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A 17-year-old Motswana boy of the Tswana ethnic group with a primary school education was brought to our psychiatric hospital with a 5-year history of tobacco smoking and delinquent behaviors. He is the first in a family of three children; both his parents are alive but separated. He lives with his mother who is of low socioeconomic status; she has a busy schedule and works full time. There is no history of mental illness or substance abuse in the family. He was observed at the age of 11 years to exhibit conduct disorder behaviors such as disobedience, stealing, truancy, and hanging out with “street kids.” He was first introduced to tobacco smoking by his friends at age 12 years. He started with a Peter Stuyvesant (nicotine content of 1.3 mg/cigarette) brand of cigarette which was initially unpleasant; however, he continued with persuasion from his friends. He gradually stepped up his use from one cigarette/day over the next 2 to 3 years to approximately 20 to 30 cigarettes per day to sustain the relaxing and stimulating effect which improved his daily performance. He admitted to craving for this substance to the extent of doing dirty jobs for people to sustain the habit and neglecting other previous forms of enjoyment, such as watching television with family members. He has had several unsuccessful attempts at controlling the amount he took in a day despite the knowledge of its harmful consequences. His longest period of abstinence was 3 months in a rehabilitation center which was approximately 3.5 years ago. He had once experimented with cannabis and alcohol, but he never enjoyed these substances and so did not continue.\nTwo months prior to his index presentation at our hospital, he progressively neglected his personal hygiene and food, became emaciated, and spent more time cigarette smoking (that is, smoking continuously); he decided to seek medical attention at this time.\nThere were no psychotic symptoms on admission, but he was very restless, irritable, and had intense craving for this substance. In addition he complained of headache and insomnia.\nHe has had no previous treatment or admission for any psychological disorder and was never on any psychotropic medication before his index presentation at our hospital. A year after he started smoking cigarettes, his mother decided to seek spiritual help when he was observed to be smoking cigarettes at the expense of other activities, pilfering, and playing truant, but there was no significant improvement. His cigarette smoking subsequently became excessive over the next 6 months and he consequently started neglecting his personal hygiene, withdrawing from family activities, and preferring to smoke cigarettes rather than eat; thus, he was becoming emaciated. As a result, his mother was advised to try a rehabilitation center. He spent 3 months in a rehabilitation center 3 years prior to his presenting at our hospital. He went through drug education, counselling, and was abstinent for only this period. He had neither psychotic nor mood symptoms before or during the period of rehabilitation, and did not experience any abnormal movement. He only complained of restlessness and tension; nevertheless, he was not placed on any medication other than multivitamins. While he was in the rehabilitation center, he was completely abstinent and his appetite and weight improved considerably. On leaving the rehabilitation center, he attended follow-up only once before he defaulted. Afterwards, he went back to smoking cigarettes and has had no period of abstinence until his index admission to our mental health facility.\nBefore he started smoking cigarettes, he was described as an easy child, quite cheerful, and an outgoing person who enjoyed the company of other children.\nA mental state examination at his index admission to our hospital revealed agitation, but there was no abnormality of speech, thought, or perception. He described his mood as fine, but objectively it was anxious.\nA physical examination revealed no significant abnormality. His blood pressure was 110/70 mmHg, pulse rate was 90 beats/minute, and his temperature was 37 °C. Investigations such as full blood count, liver function test, thyroid function test, as well as computed tomography (CT) scanning of his brain revealed no significant abnormality. Urine drug screening was negative for substances which included cannabis, cocaine, and phencyclidine, except for benzodiazepines, which was given to reduce restlessness and to improve sleep.\nThe working diagnosis made was mental and behavioral disorder due to psychoactive substance use; nicotine dependence with comorbid conduct disorder.\nThree days postadmission, he was observed to be having some abnormal involuntary movement such as occasional chewing movements, trunk twisting, and truncal tremor. During an interview he tried to conceal the involuntary movements of his hands by holding his chair with a firm grip. According to the nurses’ reports, these movements often disappeared during sleep and briefly whenever his attention was called to them. He admitted to the fact that he first experienced these movements approximately 2 years ago and has also observed their disappearance whenever he smokes. This claim was supported following some relief which he experienced with nicotine gum (Nicorette); an offer which he previously refused.\nHe was on admission for 4 weeks with scheduled sessions with a psychologist on drug counselling and education. In addition he was placed on diazepam 10 mg on the first night and twice daily for 5 days in addition to nicotine gum which was made available to him on demand.\nHis level of hygiene as well as his appetite improved approximately 2 weeks after admission in response to therapy. In addition, his abnormal movements reduced after 3 weeks on nicotine gum after which he was discharged home with the gum. He was to continue with monthly psychological sessions on an out-patient basis since there was no formal rehabilitation program in the facility. He was seen only once on follow-up during which it was noted that he did well on nicotine gum without any adverse effect. His appetite, level of hygiene, and weight were also well maintained but he then defaulted. |
The patient is a 21-year-old African American man with a past psychiatric history of schizophrenia who was transferred from the psychiatry unit to the medical floor to rule out sepsis after the development of fever and tachycardia. The patient was reported to have decompensated on account of nonadherence with his home medications resulting in frequent hospitalizations and poor functioning. As per the patient's admission records, the patient's initial labs and urine toxicology were within normal limits. The patient had been on various antipsychotics since his diagnosis with schizophrenia at the age of 19, including haloperidol, olanzapine, and risperidone, but he continued to decompensate despite adequate medication trials. The decision was made to start the patient on clozapine due to possible failure of these previous antipsychotics. Clozapine was started at 25 mg PO twice daily and titrated up to 150 mg PO twice daily over the next 12 days. His current daily dose was 300 mg when he was transferred to the telemetry unit following a sudden development of fever and tachycardia on the psychiatric inpatient floor.\nOn the medical inpatient unit, the patient was mostly selectively mute and did not appear to be in any pain, was not vomiting, and had no diarrhea and no reported loss of consciousness or seizures. His admission vitals were a temperature of 102.4 degrees Fahrenheit, BP of 115/81 mmHg, HR of 114 beats per minute, and an oxygen saturation of 97% on room air. Physical examination did not reveal any significant findings other than a mild dehydration, no skin rash, no jugular venous distension, basal crepitation or pedal edema. Cardiac auscultative findings were largely normal except for a tachycardic heart rate; apex beat was in the 5th intercostal space, midclavicular line. The patient's heart sounds, S1 and S2, were normal, no rubs, or murmurs, and no obvious gallop rhythm. His peripheral extremities were warm with a normal capillary refill.\nThe patient was given an intravenous bolus of normal saline and a stat dose of intravenous antibiotics (vancomycin and meropenem), and full workup including 2 sets of blood cultures, urine analysis, and a chest radiograph was ordered. His complete blood count (CBC) revealed a normal leukocyte count of 7000/µl with elevated eosinophils of 500 (reference 0.0–400, see for trend) and normal platelet count. He had an elevated erythrocyte sedimentation rate (ESR) of 26 (reference 0–15 mm/Hour) and CRP was 147.4 mg/dl (reference 0.0–4.9 mg/dl).\nIn view of the patient's current clozapine use, a presumptive diagnosis of myocarditis was made and troponin I was requested which turns out to be markedly increased, 1.12 ng/dl (reference: 0.00–0.05 ng/dl). His NT-pro B-type natriuretic peptide (BNP), lactic acid, and creatine kinase levels were normal. His electrocardiogram (EKG) showed sinus tachycardia without specific ST-T changes ( below). His chest radiograph was unremarkable. Urinalysis and urine toxicology were negative. Initial transthoracic echocardiogram (TTE) revealed a left ventricular systolic dysfunction with apical hypokinesis (ejection fraction 45%) and mild tricuspid regurgitation. Coronary angiogram showed patent coronaries; ventilation/perfusion scan resulted as low probability for pulmonary embolism.\nClozapine was discontinued on admission to the medical unit. Subsequently, the patient's fever and tachycardia resolved. Troponin I trended down (lowest being 0.22 ng/ml). Eosinophil count initially increased but later normalized as shown in . Repeat transthoracic echo after one week of discontinuing clozapine revealed normal left ventricular systolic function with mild apical hypokinesis (ejection fraction of 60–65%). The patient was clinically stable throughout the hospital course. The psychiatry consult liaison team started the patient on aripiprazole which was well tolerated by the patient without any side effects. The patient later underwent an uneventful discharge to the community outpatient clinic. |
An obese 33-year-old male patient with no significant past medical history presented to the emergency room (ER) complaining of left-leg pain after a recent COVID-19 infection. He had tested positive nearly three weeks earlier and had remained asymptomatic, not requiring hospitalization. Repeat testing on admission via antigen and polymerase chain reaction (PCR) was negative. He developed acute onset severe pain and swelling in the left leg and foot nearly one week before presentation, which progressed to numbness. He did not seek medical attention previously until the current presentation when his pain became unbearable. Five days before arriving at the ER, he also had a motor loss of the toes and ankle. The patient denied any coughing, had no shortness of breath or chest pain. The patient was afebrile and vital signs were stable on presentation. On physical exam, the patient had positive Homan’s sign and palpable cord of the left lower extremity with minimal swelling. The right and left dorsalis pedis (DP) and posterior tibial (PT) pulses were palpable. The popliteal pulses were palpable on the right side and noted to be monophasic on the left. The femoral pulses were palpable bilaterally. The left foot was noted to be cool in temperature with diminished sensation at the level of the ankle. The patient also had a foot drop, was unable to flex the ankle, minimal toe flexion/extension, and early mottling of the skin was noted. The rest of the physical exam was within normal limits.\nUltrasound of the left lower extremity showed evidence of acute deep venous thrombosis in the popliteal (partial) and gastrocnemius (nearly occlusive) veins. Subcutaneous edema and rouleaux flow were seen throughout the extremity. Nearly occlusive arterial thromboses were also discovered throughout the distal femoral, popliteal, posterior tibial, anterior tibial, and peroneal arteries with very low flow velocities to absent flow overall (Figure ). More proximally, triphasic waveforms were observed with moderately reduced velocities through the common femoral, deep femoral, proximal, and mid-femoral arteries. Heparin infusion was immediately started. Vascular surgery was consulted, and the patient was taken to the operating room for an open thrombectomy of the superficial femoral artery, popliteal, anterior tibial, posterior tibial, and peroneal arteries under general anesthesia. Heparin infusion was maintained throughout the procedure and the patient was also heparinized using 100 U/kg heparin which circulated for three minutes before the activated clotting time (ACT) was measured. The ACT was maintained between 250-300 throughout the procedure. Despite appropriate anticoagulation, he had recurrent thromboses. The posterior tibial artery lost signal within a few minutes of closing and was reoccluded. These tibial vessels were subsequently reopened, and he underwent repeat thrombectomy. After the re-thrombectomy, the patient developed signs and symptoms of impending respiratory failure with oxygen saturations dropping down to the low 70s despite a 100% fraction of inspired oxygen (FiO2) and tachycardia. As such, the patient was intubated. The posterior tibial artery was reoccluded, but there was a signal in the dorsalis pedis. However, because the patient was deemed to be in danger of significant decompensation, a third thrombectomy was not attempted.\nPost-operatively, the patient developed worsening respiratory failure, increased work of breathing, and apparent ST elevation on the monitor. EKG confirmed an inferior ST segment elevation myocardial infarction (STEMI) with reciprocal anterior ST depression (Figure ). Unfortunately, the doppler signal of the anterior tibial artery was also lost around the same time. He was taken emergently to the cardiac catheterization lab and was deemed unstable for return to the OR for another attempt at tibial thrombectomy.\nIn the cardiac catheterization lab, he was found to have triple vessel disease; percutaneous coronary intervention was attempted but was unsuccessful. The ejection fraction based on the left ventriculogram was 20%. He experienced atrial flutter during the procedure requiring chemical cardioversion with amiodarone. He was noted to have a possible left apical and right mural thrombus both of which were confirmed on a subsequent echocardiogram. His left foot remained cold and pulseless. Patient remained on a heparin gutta (gtt) (heparin infusion 25,000 units in 500 mL 0.45% NaCl continuous at 0-30 units/kg/hr, titrated per protocol while monitoring activated partial thromboplastin time [aPTT]). Clopidogrel (Plavix) 300 mg per os (PO) was administered once after the patient sustained a STEMI and then continued at 75 mg PO daily thereafter. The patient demonstrated signs of heparin resistance as he could not reach goal aPTT despite maximal heparin gtt with a mean activated partial thromboplastin time of 55.7 seconds and an average anti-Xa assay of 0.24 IU/mL. Argatroban infusion was initiated at 2 mcg/kg/min and aPTT level within 24 hours of initiating argatroban was 114.8 seconds, achieving the therapeutic range indicated for anticoagulation. His left foot was not deemed salvageable and given his poor overall condition, ongoing hypercoagulability, and mortality risk, a guillotine amputation of the left foot just proximal to the ankle was performed. No arterial inflow was present. An acute clot was extracted from the posterior tibial artery with the restoration of pulsatile inflow. The clot was also extracted from the anterior tibial artery with the return of weak inflow.\nFour days following the STEMI, the patient developed pulseless ventricular tachycardia and was successfully resuscitated and started on amiodarone. While he remained on mechanical ventilation, he required intermittent pressor therapy for undifferentiated shock. Three days later, the patient was successfully extubated and transferred out of the ICU and began to work with physical therapy. One week later, the patient developed recurrent acute hypoxemic respiratory failure, requiring re-intubation, and he was transferred back to the ICU. Anticoagulation with warfarin was initiated after bridging with fondaparinux. Three days later, the patient was extubated and then three days thereafter, he again went into acute respiratory distress, requiring BiPAP. Despite attempts at non-invasive ventilation using BiPAP, he became somnolent and required intubation, and transition to full mechanical ventilatory support was altered and he was intubated. During the peri-intubation period, the patient lost pulse and went into pulseless electrical activity and advanced cardiac life support (ACLS) protocol was initiated. Thirty minutes of ACLS was completed and a cardiac ultrasound thereafter showed no cardiac movement with the presence of a ventricular thrombus. The patient was pronounced dead.\nHematology-oncology was consulted during the hospitalization to investigate potential underlying etiologies of the patient’s hypercoagulability, given his young age and unusual clotting symptoms. Further lab workup to investigate causes of hypercoagulopathy included antiphospholipid antibodies, anticardiolipin antibodies, beta 2 microglobulin antibody, lupus anticoagulant, and factor II DNA analysis that all resulted negative. Flow cytometry testing for paroxysmal nocturnal hemoglobinuria was also collected and the results were negative. Janus Kinase 2 (JAK2) kinase mutation looking for evidence of polycythemia vera or other myeloproliferative disorders was also negative. Other hypercoagulable syndromes more related to venous clotting, specifically with factor V Leiden, prothrombin gene mutation, protein C deficiency, protein S deficiency, and antithrombin III deficiency were worked up (although it was expected that the antithrombin III level was not reliable, as the patient remained on heparin in the setting of acute clotting) and no test came back positive. Screening for underlying connective tissue disorders/rheumatologic disorders was conducted inclusive of the antinuclear antibody (ANA), rheumatoid factor, and serum protein electrophoresis (SPEP) with quantitative immunoglobulins. This extensive workup for hypercoagulability, while the patient was hospitalized, was non-diagnostic, suggesting COVID-19 syndrome of hypercoagulability as the most probable etiology in the post-acute infection setting.\nThe patient also notably had elevated blood glucose levels during his hospitalization ranging in the 200s. An A1C was then obtained and resulted to be 12.0%. Though the patient had not been formally diagnosed with diabetes, his hemoglobin A1c (HbA1C) and elevated blood glucose readings in the hospital confirmed the diagnosis of type 2 diabetes. His blood glucose levels were controlled in the inpatient setting with sliding scale insulin. |
A 44-year-old African American man presented at an outside hospital with history of neck pain and left arm pain in a nondermatomal distribution associated with left hand numbness/tingling and left-sided weakness for a couple of months. Examination revealed presence of subtle left sided hemiparesis (4+/5 on Medical Research Council (MRC) grade) and considering a diagnosis of cervical spondylosis, a plain MRI of cervical spine was ordered which revealed presence of moderate cervical stenosis associated with T2 signal changes with no significant focal compression and he was treated conservatively. He however had progression of symptoms over the next few weeks due to which he was referred to our institution. Examination revealed presence of worsening weakness involving the left side (3/5) with brisk reflexes in bilateral upper and lower extremities. Sensory exam showed no gross dermatomal sensory deficits with presence of Hoffman's reflex. These neurologic findings prompted us to repeat an MRI with contrast enhancement due to presence of signal changes on the MRI without significant compression and disconcordance between clinical examination and imaging findings. MRI revealed presence of an approximately 1.5 cm patchy enhancement involving the left half of the cervical spinal cord at C4 level with presence of T2 signal changes spanning three to four segments in the cervical spine along with presence of moderate to severe spinal canal stenosis [Figures and ]. In light of the clinical symptoms and neuroimaging abnormalities, the diagnosis of spondylotic compressive myelopathy was questioned and a differential diagnosis of a neoplasm (astrocytoma/ependymoma), inflammatory, ischemic, and demyelinating lesions was entertained. Initial laboratory workup including lumbar puncture revealed that the patient had a mildly elevated protein level (43.5 mg/dl), a normal immunoglobulin (Ig)G/albumin CSF ratio (0.2), negative oligoclonal bands, and no malignant cells on CSF cytology studies. His CSF also demonstrated 110 red blood cells and 15 white blood cells per ml with 90% lymphocytes. Quantiferon gold tuberculosis (TB) test, aerobic, anaerobic, fungal, and TB cultures were all negative making infection an unlikely diagnosis. Erythrocyte sedimentation rate and C-reactive protein were slightly elevated with values being 19 (N: 0-17 mm/h) and 17 (N: 0.0-8 mg/dl). He was started on pulse dose of steroids with a likely diagnosis of myelitis and his clinical examination improved with improvement in motor strength to 4+/5 and he could ambulate better. However, while the steroids were being tapered, he had recurrence of symptoms with worsening weakness (3/5). The steroids were restarted, but because it was not possible to make a definitive diagnosis based on laboratory studies, in the face of neurological worsening on tapering steroids, despite the risks of an intramedullary biopsy, this was thought to be the best option for diagnosis. A C3 through C6 laminoplasty and excisional biopsy of the C4 intramedullary lesion was performed to address the cervical stenosis and biopsy the intramedullary lesion []. Intraoperatively, the cord appeared normal except that it was quite swollen laterally on the left-hand side at C4 level and a dorsal root entry zone myelotomy was performed and abnormal tissue was immediately encountered which was quite distinct from the normal spinal cord tissue. This was sent for frozen section, which revealed gliosis versus neoplasm. Given the fact that this could be neoplastic tissue, further dissection was then carried out and a dissectible plane was found separate from normal spinal cord and a gross total resection could be achieved. The patient initially had worsening of his strength on left side and became essentially hemiplegic, but started improving gradually. Final pathology demonstrated non-necrotizing granulomatous disease consistent with sarcoidosis []. After the diagnosis was confirmed, an MRI of the brain [] and CT of the chest abdomen and pelvis were done to rule out any other site of involvement which demonstrated slightly, but nonsignificant mediastinal and retroperitoneal lymph nodes. Serum and CSF angiotensin converting enzyme (ACE) levels performed were within normal limits. He was subsequently treated with pulse dose of intravenous (IV) methylprednisolone, methotrexate, and induction infliximab (chimeric monoclonal antibody against tumor necrosis factor (TNF)-α) therapy and was discharged home with significant improvement in his motor strength. He remained in clinical follow-up with rheumatologist and neurologist and was treated on an outpatient basis with prednisolone 60 mg/day for 6 months along with methotrexate and infliximab. At his last follow-up at 9 months, he was on tapering dose of prednisone with continued weekly oral methotrexate and eight weekly maintenance infliximab therapy. He maintained neurological improvement in his motor strength except residual left ankle dorsiflexion weakness required an ankle foot orthosis and could ambulate independently with occasional use of walker for stability. |
A 58-year-old man presented with productive cough and fever. His medical history was significant for hepatitis C and a maternal family history of colon cancer. The patient had no past history of cancer or surgery. He was an ex-smoker (40 pack/year), and worked as a screenwriter and photographer. He had no history of asbestos exposure. He was initially treated with antibiotics, and his symptoms were resolved. However, due to persistent abnormal chest X-ray findings, a CT scan of the chest was carried out revealing a 5 cm × 4 cm paraspinal mass in the upper right chest, which was also intensely hypermetabolic on a corresponding positron emission tomography scan without evidence of lymph node metastasis. No pleural effusion was detected []. A radiologic differential diagnosis included a posterior mediastinal neurogenic tumor and a metastatic carcinoma. Because the mass was located adjacent to the esophagus, an esophagogastroscopy was arranged to rule out esophageal cancer, and this was normal. A magnetic resonance imaging of the brain and a bone scan were negative. Laboratory studies were all within the normal range. The mass was aspirated under CT guidance using coaxial technique and a 22-gauge needle. Air-dried and alcohol fixed smears were stained with Romanowsky and Papanicolaou method. A cell block was prepared from sample rinsed in saline, using the histogel method. Rapid on-site assessment provided by a cytopathologist was recorded as an adequate sample showing an epithelioid neoplasm.\nThe smears showed a hypercellular specimen consisting of loosely cohesive “lobules” of heavily vacuolated epithelioid cells displayed against a background of myxoid material, which was highlighted on Field's and Giemsa stained direct smears, suggesting the possibility of chordoma []. The vacuoles in the cells were filled with the same myxoid material seen in the background [] and were negative for mucicarmine stain. Occasional cells with intracytoplasmic vacuoles displacing their nuclei to the periphery resembling signet-ring cells were also seen within the lobules, expanding the differential diagnosis to include the possibility of adenocarcinoma []. Individual microcysts were fused, resulting in secondary cystic dilatation. The epithelioid cells showed moderate to marked nuclear pleomorphism out of keeping with chordoma, hyperchromatic nuclei, prominent nucleoli, a dense chromatin pattern, and abundant cytoplasm. Mitotic activity was easily identified []. There was no evidence of necrosis. The working differential diagnoses included chordoma, benign adenomatoid tumor, epithelioid hemangioendothelioma, adenocarcinoma, and epithelioid MM.\nImmunohistochemical studies performed on cell block sections showed tumor cells were strongly immunoreactive for calretinin, WT-1, D2-40, cytokeratin (CK) 7, and AE1/AE3; and moderately positive for high molecular weight keratin (CK5/6), vimentin, and epithelial membrane antigen, which supported a mesothelial origin. Negative stains included thyroid transcription factor-1, Ber-EP4, carcinoembryonic antigen, S100 protein, CK20, and CDX-2, which excluded adenocarcinoma and chordoma and further supported the diagnosis of mesothelioma []. In the context of radiologic findings, a diagnosis of localized MM, microcystic (adenomatoid) variant, was made. The patient subsequently underwent right pneumonectomy. Examination of the lung found a localized, pleural-based 4.8 cm tumor located adjacent to the right upper lobe. The tumor involved parietal and visceral pleura, and focally invaded the underlying lung parenchyma and overlying chest wall soft tissue, confirming the diagnosis of MM. The patient remains disease free 29 months after the pneumonectomy. |
A 72-year-old female patient was admitted to our outpatient department complaining of back pain associated with severe neuropathic radicular pain to her both lower extremities, incomplete paraplegia at the levels of L5 and S1 and low back fistula with serous secretion since several weeks. The patient had extensive surgical and medical history in another hospital and brought us all the medical reports from her previous admissions.\nNine years before her admission to our department, she had undergone several anterior and posterior lumbar spine surgeries for L3-L5 spinal stenosis and neurologic claudication. The first operation had occurred at the age of 63 years. It was an anterior decompression and interbody fusion L3-L4, via a left-sided XLIF approach with neuromonitoring. While placing the intervertebral cage at the segment L4/L5, there was a pool of blood coming from the surgical site and the patient soon became hemodynamically unstable. The vascular surgeon on-site applied a hemostatic agent immediately along with packing and the decision to abort the posterior planned stabilization was made. Emergent angiography was performed, as the suspicion for major vascular injury arose; it showed laceration of the terminal aorta along with large expanding hematoma pressing on the lower abdominal aorta and the right common iliac injury. Following angiography, an intravascular mesh stent was successfully inserted by the interventional radiologist on site (Figure ). The patient became hemodynamically stable and repeat angiography showed no blood escape from the aorta laceration site. Immediately postoperatively, the patient complained of decreased motor strength in all muscles below the knee (L5, S1) bilaterally and severe neuropathic pain. The patient remained stable and the decision to proceed to the aborted XLIF was made. Two months after the initial L4/L5 XLIF, the surgeon proceeded to the posterior percutaneous MIS stabilization.\nThe subsequently performed CT and MRI of the thoracolumbar spine disclosed a significant spinal stenosis with myelopathy signs at the level T11-T12, so that the previous surgeons advised a wide decompression in the lower thoracic spine since it was considered a main source of the persistent lower extremities pain and neurologic deficit (Figure ).\nTherefore, a wide posterior decompression, including laminectomy and facetectomy was performed by the same surgeons at the level of T11-L3 with posterior pedicle screw fixation and fusion from T10-S1 levels (Figures -).\nOn admission to our outpatient clinic, the patient was mobilized using a wheelchair and claimed severe pain in the lower extremities. She had been in pain-relief protocol with pethidine and morphine in a private pain clinic by an experienced anaesthetist with only temporary relief. Physical examination revealed a patient with marked muscular atrophy in both lower extremities and flexion contracture in her right knee of 30 degrees associated with severe osteoarthritis. There were two draining sinuses emerging from the back over the old posterior midline surgical scar. The lateral (XLIF) scar in the left side was without signs of infection. Neurovascular examination revealed motor deficit in the lower extremities as follows: iliopsoas bilaterally 3/5; quadriceps bilaterally 3/5; foot dorsal extensors and flexors bilaterally 1/5 and 2/5 respectively. Furthermore, sensation from L1 to S2 was decreased, worse at the levels of L4-S1 bilaterally. Therefore, only minor improvement was seen compared to the situation after the multiple operations in the first institution.\nWound cultures from the sinuses were collected on admission that disclosed E. coli and intravenous antibiotics were started. A CT showed completed fusion in all instrumented segments (Figures -), but also revealed remarkable abscess formation underneath the lumbar fascia (Figure ).\nDuring her admission in our department, she underwent a posterior revision surgery from T10 to S1 including removal of the fistulae that emerged from underneath the deep lumbar fascia. Pus was draining from the subfascial area and was drained and debrided meticulously. No findings of meningocele or pseudomenigocele were disclosed elsewhere. Complete removal of the posterior spinal implants (screws, rods etc.) was performed since the fusion was completed and a chronic deep infection persisted (Figure ).\nTissue samples taken from the posterior lumbar surgical site were cultured. Tissue culture grew E. coli and Pseudomonas strains. The antibiotic scheme was adjusted and continued for a total of four weeks until the patient was discharged; oral antibiotics followed for additional two months after discharge. She remained stable during her hospitalization, repeat blood cultures were negative and the patient was finally discharged to a rehabilitation facility.\nIn the first six months following this surgery, the patient reported slow but gradual improvement of her lower extremities neuropathic pain. Thirty months following this last surgery the patient was admitted again to our outpatient clinic. She was almost pain-free and was mobilizing with leg braces for the lower extremities. The ESR was 12 mm/1st hour and CRP was 0.5, within normal limits (<0.5). |
A 54-year-old man came to the private dental clinic with complaint of difficulty in mastication and esthetical concern for his upper anterior teeth. He was a nonsmoker and was diagnosed with IgG-kappa type MM in November 2011. In the physical examination, he was diagnosed with MM. Bony metastasis was present at the time of diagnosis of the disease. A full radiographic skeletal survey showed multiple bony lesions at the ribs, femurs, and hip (Figures and ).\nPanoramic view revealed bony lytic and punch out lesions at the right side of the mandible. This patient had no history of surgery. His weight had decreased by 7 kg, following 22 months of acute intravenous injection (IV) BP treatment after the last chemotherapy treatment session. His blood pressure was 130/80, and he had a normal breathing and pulse rate. Preoperative examination of his oral mucosa revealed no evidence of pathological lesions, and overall oral hygiene was good. The patient was felt healthy and was well nourished, alert, and cooperative. After thorough clinical examination, maxillary right first premolar was found missing.\nAfter meticulous consulting sessions with the patient and discussing the advantages and disadvantages of all treatment options, he accepted to receive dental implant.\nAccording to the patient's physician, the appropriate time for the surgery relied upon the patient's regular blood cell counts. This patient did not undergo any radiotherapy phases in the entire duration of his active IV BP treatment. He underwent chemotherapy for two separate sessions. After the last session of chemotherapy, the patient received monthly infusion of 3.5 mg of the IV BP drug zoledronate (Zometa; Novartis Pharmaceuticals Corporation) for a period of 22 months (from May 2014 to March 2016). As per the physician's recommendation, C-terminal cross-linking telopeptide (CTX) examination was carried out 6 months after stopping IV BP therapy. The CTX above of more than 150 was considered to be safe, in that the CTX was 289 pg/mL.\nBefore surgery, the patient was premeditated with 2 g of amoxicillin/clavulanic acid and 50 mg of diclofenac. A root form titanium dental implant (Superline; Dentium) of 3.6 mm in diameter and 10 mm in length was inserted under local anesthesia (Figure ). The patient well-tolerated the procedure and his vital signs were regularly monitored. Postoperative medications including antibiotics (1000 mg amoxicillin/clavulanic acid twice daily for 7 days, starting on the day of surgery), an analgesic (600 mg ibuprofen as required every 6 hours), and mouthwash (0.2% chlorhexidine twice daily for 2 weeks, starting on the day after surgery) were prescribed to the patient. Postoperative course and healing were unremarkable and typical. He was instructed to resume normal oral hygiene and chewing by week six. Postsurgical cleaning protocols, including oral hygiene instructions, were implemented at weeks 1, 2, 6, and 12.\nFour months after the implant insertion, the patient returned for punch removal of the gingiva overlying the implants. After 1 week, the appropriate impression copings were connected to the fixture. Polyether (Permadyne light and regular body; ESPE, Plymouth Meeting) was injected around the transfer copings and placed inside the custom tray using the dispenser. After laboratory procedure, abutment were positioned and torqued according to the manufacture's guidelines at 30 Ncm. After the surgical and prosthetic treatments were completed on February 2017, the patient was placed on a regular follow-up for peri-implant maintenance. The patient resumed IV BP therapy on May 2017. The oral hygiene regimen was implemented for this patient in a 6-month recall. The last follow-up (12 months after prosthetic delivery) showed minimum bone loss, as compared with the X-rays taken immediately after the prosthetic delivery and the implant, and its restoration was successful. The patient was satisfied with the treatment (Figure ). |
A 43-year-old man presented with a progressive deterioration of visual function for the previous seven years. The patient had no other ocular symptoms such as nystagmus or photophobia. His past history showed stable vision of 20 / 40 since trauma to his right eye when he was approximately 14 years of age. No other systemic abnormalities or malformations were recorded. His best-corrected vision was 20 / 400 in the right eye and 20 / 20 in the left, and his intraocular pressures were 25 mmHg in the right eye and 23 mmHg in the left eye at the time of his initial visit. Under slit lamp examination, a diffuse haze composed of a flaky pattern of stroma was noted throughout the entire cornea. The right eye had decreased vision and exhibited relatively denser homogenous opacities than the left ().\nThe family members stated that corneal changes had been detected only in the patient's mother at 69 years of age, and no specific issues had arisen in any other family member or relative. The patient's father had reported no ophthalmic abnormalities before his death, and his mother had been diagnosed with diffuse corneal opacities of unknown etiology in both eyes three years previously (). She explained that she had experienced decreased vision since childhood, but these deficiencies produced no difficulties in her daily life. The patient's brother and sister had no symptoms at all and no ophthalmic or systemic abnormalities. As far as the family knew, no one in the paternal or maternal lineage or offspring of the patient had experienced any eye problems except for the patient's mother ().\nThe endothelium and Descemet's membrane of the right eye were identified as normal following slit lamp examination. No gross abnormalities, such as Haab's striae or features of posterior polymorphous corneal dystrophy, were detected in the right eye. The patient's past medical records from another hospital demonstrated that his endothelial cells of both eyes presented with a normal shape and numbers under a specular microscope about six years ago. However, endothelial cells were found as indeterminate forms using specular microscopy due to the barrier of stromal opacity at the time of our study. The endothelial cells of the left eye were counted using a Konan Noncon Robo-8400 noncontact specular microscope (Konan Medical Inc., Hyogo, Japan) as 2564 cells/m2. We assumed that the right eye would have a similar amount of endothelial cells and a relatively uniform morphologic pattern as those of the left.\nUltrasound corneal pachymetry (Humphrey Instruments Inc., San Leandro, CA, USA) revealed a central corneal thickness of 658 µm in the right eye and 632 µm in the left. The patient was suspicious for CHSD based upon clinical evidence, and he was scheduled for penetrating keratoplasty of the right eye. A corneal button was sent for light and electron microscopic analysis. There was no problem with corneal wound healing after keratoplasty, and the grafted cornea restored its transparency within two weeks. After 12 months, the corneal graft remained clear, and the patient's best-corrected visual acuity was 20 / 50 in the right eye.\nLight microscopy with hemotoxylin and eosin staining revealed a normal epithelium and uninterrupted Bowman's membrane. The stromal lamellae were separated slightly from one another, forming a relatively compact space in between the anterior and the posterior stroma (). No Descemet's membrane or endothelium was detected in the original corneal button, apparently as the result of inappropriate specimen handling. Any infiltration, vessels, inflammatory, or storage material could not be detected.\nElectron microscopy revealed a criss-crossing pattern of corneal collagen fibers with a relatively electron dense and lucent structure and collagen fibers irregular in shape and size (). Keratocytes extended widely through the zone of low filaments ().\nBlood was sampled from the patient and family members for DNA collection and analysis []. DNA sequencing analysis of the decorin gene in chromosome 12q22 was positive in both the patient and his mother. The novel mutation of a heterozygous, nucleoside substitution (c.1036T>G) point mutation in the decorin gene was detected in both patients (). Lumican and keratocan sequence variants, which are closely located within the decorin gene, did not reveal any mutations. The c.1036T>G mutation resulted in a change of amino acid sequence (p.Cys346Gly). However, no genetic mutations were detected in other family members. |
An 81-year-old Japanese woman with a 2-week history of abdominal distension presented to our hospital for assessment. The patient did not have a past history of malignancy, with only a cesarean section as a relevant feature in her history. Endoscopic examination at a previous hospital revealed the presence of early carcinomas in the stomach and distal esophagus. The patient was referred to our hospital for endoscopic resection.\nLaboratory data, as well as serum carcinoembryonic antigen, squamous cell carcinoma antigen, and cytokeratin-19 fragment levels, were close to normal limits. Endoscopic examination revealed mild granular elevated lesions, with slightly depressed irregular mucosa, extending from the anterior wall to the right wall of the distal esophagus (Fig. ). This irregular mucosa further extended from the anterior wall to the left wall, with the boundary on the oral side being unclear (Fig. ). A superficial elevated tumor-like lesion was also observed in the lower body of the stomach, with a diameter of about 10 mm (Fig. ). Based on the endoscopic biopsy specimen, this gastric lesion was diagnosed as a well-differentiated tubular adenocarcinoma. On the other hand, the preoperative biopsy specimens of the esophageal tumor showed intraepithelial tumor cells, which were isolated or in clusters, and consisted of large clear cells with atypical nuclei and prominent nucleoli. No glandular structures and no obvious intracytoplasmic mucin were observed. These histological findings were consistent with a malignant melanoma, with a pagetoid spread of invasive adenocarcinoma or squamous cell carcinoma, and Paget’s disease as a differential diagnosis. Immunohistochemically, the tumor cells diffusely stained positive for CK7 and partially for CK20, with negative staining for S100 protein and HMB-47. On the basis of these results, a diagnosis of malignant melanoma was excluded. All human mucin core proteins examined (MUC2, MUC5AC, and HIK1083) were also negative. Furthermore, p53 overexpression was observed in all tumor cells. From these results, we diagnosed the tumor as Paget’s disease or a pagetoid spread of an esophageal carcinoma. On enhanced computed tomography (CT) and [18F]-fluoro-deoxy-glucose positron emission tomography (FDG-PET)/CT imaging, no lymph node and distant metastases were identified (Fig. ). FDG uptake was observed only in the lower body of the stomach, with these lesions considered to reflect past endoscopic submucosal dissection (ESD) for early gastric cancer (Fig. ). Although we could not define the margin of the tumor, previous reports of esophageal Paget’s disease indicated a wide extension of Paget cells in the esophageal mucosa. On the basis of these findings, we planned ESD for the treatment of the gastric lesion, followed by a thoracoscopic esophagectomy (TE) and hand-assisted laparoscopic proximal gastrectomy (HALPG) for the treatment of esophagogastric Paget’s disease. Histological examination of the ESD specimen revealed a well-differentiated mucosal adenocarcinoma (11 mm × 8 mm) without lymphovascular involvement. The lateral and vertical margins of the resected tissue were free of tumor cells, and ESD was considered as a curative resection.\nTE and HALPG, with lymph node dissection, were performed at 43 days after the gastric ESD. Regional lymph nodes were dissected, with no metastatic invasion identified in the thoracic and abdominal lymph nodes. Reconstruction with a gastric tube was performed after esophagectomy, using a hand-assisted laparoscopy procedure via a post-sternal route.\nHistological examination of the surgically resected specimen was performed. Macroscopically, the mucosa of the lower thoracic and abdominal esophagus was slightly irregular and depressed, with submucosal capillary hyperplasia (Fig. ). No tumor mass or ulceration was observable in the resected material. With iodine staining, the mucosa of the lower esophagus, which was congruous with the irregular and depressed area, did not stain. Furthermore, isolated small iodine-stained foci were observed in the gastric mucosa adjacent to esophagogastric junction (Fig. ). Microscopically, these foci consisted of squamous metaplasia of the gastric mucosa. The sectioned tissues were stained with hematoxylin and eosin (HE) and periodic acid-Schiff (PAS)/Alcian blue. As well, immunohistochemical staining for CK5, CK7, CK20, CDX2, MUC2, MUC5AC, HIK1083, p53, p63, S100, and HMB-45 was performed. Microscopic examination revealed neoplastic cells, with a large atypical nucleus and pale-staining cytoplasm, in the lower part of the esophageal epithelium, occurring either singly or in clusters (Fig. ). Reserve cell hyperplasia (Fig. ) and squamous metaplasia (Fig. ) were observed in the gastric mucosa, adjacent to the esophagogastric junction, and an intraepithelial squamous cell carcinoma (SCC) was observed within the squamous metaplasia (Fig. ). Components of the intraepithelial squamous cell carcinoma were identified following the Paget cells in the esophageal squamous epithelium. Only a few Paget cells stained positively for PAS/Alcian blue. Immunohistochemically, negative staining for CK5 (Fig. ) and p63 was identified in Paget cells, with positive staining for CK7 (Fig. ). The Paget cells showed no reactivity for intestinal mucin (MUC2) and gastric foveolar mucin (MUC5AC), but a few Paget cells were positive for gastric gland mucin (HIK1083). On the other hand, the intraepithelial SCC showed positive reactivity for CK5 and p63, but no reactivity for CK7 and CK20. Overexpression of p53 was observed in both Paget cells (Fig. ) and the intraepithelial SCC. Histochemical and immunohistochemical results are summarized in Table , and schematic representation of the distribution of Paget cells and squamous cell carcinoma of the esophagogastric junction is shown in Fig. . Because there were any findings of Barrett’s esophagus neither endoscopically nor pathologically, macroscopic esophagogastric junction and pathological squamocolumnar junction were identical. Regional lymph node metastases were not identified on pathological assessment.\nAt the last follow-up, conducted 2 years and 8 months after surgery, the patient’s health status was fairly good, with no recurrence of the EMPD or carcinoma.\nEMPD was first described in a patient with urinary bladder carcinoma in 1889 []. Since this initial report, EMPD has been described in various sites of the body, most commonly the vulva, perianal region, scrotum, penis, and axilla []. EMPD is subdivided into primary and secondary types on the basis of the presence or absence of associated malignancies. Primary EMPD is thought to be derived from an underlying neoplastic transformation of the intraepidermal portion of a sweat gland, whereas secondary EMPD is caused by the intraepidermal spread of neoplastic cells, typically derived from an underlying adenocarcinoma [, ].\nEsophageal Paget’s disease is quite rare, with only a few cases having been reported [–]. Yates and Koss [] described esophageal Paget’s disease associated with a poorly differentiated squamous cell carcinoma of the distal esophagus, whereas Norihisa et al. [] reported a case of adenosquamous carcinoma of the esophagus with pagetoid extension of the adenocarcinoma component. Therefore, both of these cases were diagnosed as a pagetoid growth of an advanced esophageal carcinoma. On the other hand, Nonomura et al. [] and Matsukuma et al. [] reported esophageal Paget’s disease associated with an early underlying carcinoma, one being an intraepithelial carcinoma and the other, a minimally invasive adenocarcinoma of the esophagus. Ishihara et al. [] also reported a case of an early invasive carcinoma, which consisted of pagetoid squamous cell carcinoma in situ combined with early invasive components and choriocarcinoma at the metastatic site. Abraham et al. [] reported a close relationship between Paget cells in the esophagus and an underlying poorly differentiated adenocarcinoma in the esophagus or esophagogastric junction. From these reports, all previously reported cases of Paget’s disease of the esophagus were thought to be secondary to an underlying carcinoma, although the malignant component varied in each case. In our case, we identified an SCC component, with squamous metaplasia and reserve cell hyperplasia, in the gastric mucosa of the esophagogastric junction, which was followed by Paget cells. However, unlike typical Paget’s disease, only few Paget cells were positive for PAS/Alcian blue staining and immunohistochemically positive for gastric gland mucin, whereas a strong p53 overexpression was observed in both SCC component and Paget cells.\nReserve cells are small undifferentiated cells found as a single layer beneath the endocervical columnar epithelium. They have the capacity to transform into both endocervical columnar and squamous epithelium in the endocervix []. Reserve cell hyperplasia and epithelial dysplasia are frequently observed in the squamocolumnar junction of the cervix uteri, and squamous cell carcinoma of the cervix uteri is considered to be derived from these changes []. Reserve cell hyperplasia and squamous cell metaplasia of the gastric mucosa are rare phenomena. In 1981, Takubo [] reported the resemblance of squamous cell metaplasia to reserve cell hyperplasia in the cervix uteri and considered squamous metaplasia or reserve cell hyperplasia with atypical change as a precursor of SCC in the esophagogastric junction. However, this hypothesis has not been fully elucidated. From histological findings and immunohistochemical results in our case, we speculate that the Paget cells were derived from the squamous cell carcinoma, developing in the squamous metaplasia and reserve cell hyperplasia of the esophagogastric junction. The difference in the pattern of expression of cytokeratin and p63 might reflect the glandular differentiation of tumor cells.\nFDG-PET/CT imaging is currently accepted as the most accurate technique for exploring metastatic lesions of a solid tumor. The combination of metabolic and structural information provided by the PET and CT portions, respectively, has improved the accuracy of tumor staging, detection of recurrence, and therapeutic monitoring, having an enormous impact on patient management [, ]. In patients with EMPD, 18F-FDG PET/CT diagnosis of primary lesions is mainly dependent on the thickness of the lesions, whereas it is more sensitive for the diagnosis of lymph node and distant metastases []. In this case, thick primary lesions showed an intense uptake of 18F-FDG (SUVmax 14.9 and 7.5), whereas thin primary lesions showed only a mild 18F-FDG uptake (mean SUVmax 3.25 ± 0.24). Three of the 10 cases reported, however, showed no 18F-FDG uptake at primary site, as in our case. In 3 of these 10 cases with lymph node invasion and distant metastases of EMPD were upstaged by PET/CT, rather than conventional staging examination. To determine the appropriate treatment strategy for EMPD based on staging, PET/CT may play an important role, although some EMPD might be 18F-FDG negative.\nTraditionally, EMPD has been surgically managed, especially in the early stage of the disease. Achieving adequate margins for the primary lesions is an important factor in reducing the risk of recurrence. In patients unfit for radical surgery, radiotherapy is proposed as alternative treatment, as long as invasive disease has been excluded []. In the surgical treatment of esophageal cancer, thoracoscopic esophagectomy is generally regarded, and accepted, as a minimally invasive surgery []. Biere et al. reported on the short-term benefits of minimally invasive esophagectomy for patients with resectable esophageal cancer, with prevention of pulmonary infection being an important benefit. Furthermore, thoracoscopic esophagectomy with three-field lymphadenectomy, pursuing best loco-regional control by surgery, is a feasible and safe alternative treatment commonly performed in Japan []. Our case was diagnosed as early stage Paget’s disease of the esophagus by endoscopic, CT, and PET/CT findings. But because of the unclear and extensive proximal margin of the tumor, a thoracoscopic esophagectomy was performed to obtain a wide local excision of the EMPD. However, in the pathological diagnosis, Paget’s disease and squamous cell carcinoma were identified in the mucosal layer. Therefore, curative resection with ESD could have been possible. ESD is an effective treatment for superficial esophageal neoplasms. Funakawa et al. [] reported a success rate of 99.4% (164/165) for en bloc resection and 90.9% (150/165) for complete en bloc resection, with no instance of fatal complications. However, the reported incidence of esophageal strictures after ESD for near-circumferential or circumferential esophageal neoplasms is extremely high at 88–100% []. Post-ESD strictures seriously lower patients’ quality of life, being associated with several symptoms, including dysphagia, nausea, vomiting, weight loss, and even cachexia. In contrast, esophagogastric junction cancers have a high rate of submucosal invasion, irrespective of size, compared to non-junctional cancers []. Furthermore, the rates of positive lymphatic and/or venous invasion were remarkably higher in junctional cancers []. Therefore, when ESD is performed for near-circumferential junctional cancer as in our case, attention must be paid to the occurrence of esophageal stricture. It is important to evaluate the risk of recurrence by pathological diagnosis and to consider whether additional treatment, including surgical resection, should be performed. |
A 25-year-old Japanese female presented to our emergency department with the chief complaints of dyspnea and palpitations on exertion, starting 1 month ago. Upon arrival, physical examination revealed systolic murmur. The bedside ultrasound examination demonstrated moderate tricuspid regurgitation and possible pulmonary hypertension and the patient was hospitalized. A contrast-enhanced chest CT showed dilatation of the main PA, filled with a hypodense area with calcification adjacent to the right and left PA. The lumens of the main PA and the hilar areas of the right and left PA appeared almost obliterated by the mass; however, the mass was not attached to the pulmonary valve and did not extend into the peripheral parts of the right and left PA (Fig. ). The differential diagnosis included primary PA tumor and pulmonary thromboembolism, but we suspected it to be a PA tumor based on the radiological findings: a relatively poor contrast effect on the lesion with calcification. Lung perfusion scintigraphy revealed decreased blood flow in the whole bilateral lungs, except for the left lung upper lobe. Due to critical symptomatic obliteration of the pulmonary circulation, an emergency surgery was performed on the second day of hospitalization. Preoperative FDP D-dimer was 1.9 μg/mL, slightly higher than the normal limit (within 1 μg/mL).\nFollowing a median sternotomy and institution of cardiopulmonary bypass, deep hypothermic circulatory arrest was induced for the removal of the tumor. The longitudinal incision was made on the main PA extending into the left PA (Fig. ). A whitish shiny mass filled the lumens without any attachment to the surrounding intima, except that the tumor was attached to the intima of the left interlobar PA. The tumor was completely removed from the vessel lumen (Fig. ). Next, the longitudinal incision of the right PA behind the aorta and the superior vena cava was extended to the right interlobar PA. The neoplasm had no attachment to the intima in this area and was obliterated by the segmental branches of the right PA. The tumor was extracted and completely removed from the vessels, and the peripheral ends of the tumor demonstrated a finger-like appearance (Fig. ). After complete removal of the tumor and copious irrigations, the incisions were simply closed using 6-0 polypropylene sutures. The postoperative CT scan confirmed that no tumorous mass was left behind in the PAs.\nGross pathology showed a soft-to-hard whitish-brown tumor. Microscopically, spindle cells with marked cytological atypia proliferated with tumor osteoid formation. There were also lobular proliferations of chondroid islands composed of atypical chondroblasts (Fig. ). Based on the pathological findings as well as the results of the clinical examination that there was no possible primary tumor, it was diagnosed as a primary ISCOS of the PA.\nShe received adjuvant chemotherapy, but 5 months later, a contrast-enhanced chest CT scan showed a hyperdense lesion with calcification at the upper hilum of the right lung, indicating the recurrence of the disease. Right upper lobectomy was performed, and the resected specimen contained a neoplastic lesion with similar pathological features to the primary lesion. Intraoperatively, a pleural metastatic nodule was also found and resected, which was of the same pathological characteristics. The patient is currently being followed up in an outpatient clinic without any known complications 16 months after the initial surgery. |
An 18-year-old male patient was hospitalized because of a 1-week history of cough, fever, and shortness of breath. Both past medical history and family history were unremarkable. He was diagnosed with pneumonia, but antibiotics did not improve his condition, and he needed oxygen inhalation for respiratory distress. One week later, a cardiovascular examination revealed 2/6 diastolic murmur over the apex and a transthoracic echocardiogram revealed a left atrial mass. He was emergently referred to our hospital. A chest radiograph revealed cardiomegaly and pulmonary vascular congestion. A transthoracic echocardiogram showed a large left atrial mass occluding the mitral inflow. A thoracic computed tomography presented a left atrial mass but no other tumors elsewhere (Fig. ). Soon after admission, his condition rapidly deteriorated after massive hemoptysis to necessitate mechanical ventilation and percutaneous cardiopulmonary support. The patient underwent an emergent surgery under a putative diagnosis of left atrium myxoma. Median sternotomy, aortic-bicaval cannulation, and standard cardiopulmonary bypass were performed. Through a right interatrial groove incision, a large pedunculated hard mass occupying the left atrium was excised; the pedicle was traced to the left superior pulmonary vein. The cardiac surgeons indicated that the tumor might have originated from the left superior pulmonary vein near the left atrium and may have directly invaded the atrial wall to the junction of the right superior pulmonary vein and left atrium. Although the mass was removed as much as possible, the en bloc removal of the tumor, with both superior pulmonary veins and their corresponding pulmonary lobes and atrial wall, could not be performed.\nHistologically, the tumor comprised pleomorphic cells with bizarre nuclei and some spindle cells with blunt-ended nuclei. In addition, multinucleated giant cells and occasional coagulative necrosis (<50% in the examined area) were observed. Besides, mitotic figures were also found with a frequency of 5–7 per 10 high-power fields. The immunohistochemical staining with the proliferation marker Ki-67 revealed a proliferation index of 50%. While the tumor cells were α-smooth muscle actin, h-caldesmon, desmin, and vimentin positive, epithelial membrane antigen, keratin, CD34, and factor VIII were negative (Fig. ). Hence, the diagnosis of leiomyosarcoma was determined.\nAfter the operation, he required the assistance of percutaneous cardiopulmonary support for 5 days and mechanical ventilation for 12 days. However, the remaining tumor grew rapidly during this interval. A transesophageal echocardiography revealed a mass, measuring 1 × 1.5 cm in the left superior pulmonary vein 7 days after the operation, and the tumor grew up to occupying two-thirds of the left atrium at postoperative day 40. Because the curative en bloc excision of the tumor was impracticable, chemotherapy and combined radiation therapy (total amount of 60 Gy) were initiated at postoperative days 46 and 59, respectively.\nOne course of IFO/DOX: ifosfamide, 2.5 g/m2 × 5 days, doxorubicin, 20 mg/m2 × 2 days; 2 courses of CYVADIC: cyclophosphamide, 1,200 mg/m2 × 1 day, vincristine, 1 mg/m2 × 2 days, doxorubicin, 40 mg/m2 × 1 day, dacarbazine, 225 mg/m2 × 4 days; 1 course of MAID: ifosfamide, 2.5 g/m2 × 3 days with MESNA, doxorubicin, 20 mg/m2 × 3 days, dacarbazine, 225 mg/m2 × 3 days; and selective tumor-specific intra-arterial infusion of melphalan (50 mg) via internal thoracic artery could not achieve any response. For salvage chemotherapy, a PAX-containing regimen, ifosfamide, 1 g/m2 × 3 days, doxorubicin, 30 mg/m2 × 1 day, PAX, 140 mg/m2 × 1 day (IFO/DOX/PAX), was initiated, and it achieved dramatic tumor regression (Fig. ). The tumor almost disappeared after 2 courses with IFO/DOX/PAX. After 4 courses of IFO/DOX/PAX, we conducted a tandem PAX-based high-dose chemotherapy (HDC) with autologous peripheral blood stem cell transplantation (PBSCT); the first HDC regimen comprised ifosfamide, 3 g/m2 × 3 days and PAX, 370 mg/m2 × 1 day, and the second comprised etoposide, 300 mg/m2 × 3 days, carboplatin, 400 mg/m2 × 3 days, and PAX, 420 mg/m2 × 1 day, respectively. The patient achieved complete regression of the tumor.\nThe patient enjoyed a sustained complete remission for 2 years after the therapy, but he suffered a brain metastasis followed by bone and pulmonary metastases. No local recurrence was noted. The lesions were refractory to chemotherapy, including PAX, and he underwent palliative surgery and radiation therapy. However, he died 4 years after the onset of symptoms and an autopsy was not allowed. |
In January 2018, a 79-year-old man was referred to our genitourinary medical oncology clinic for management of his prostate adenocarcinoma metastatic to multiple bones. His case was complicated by a concurrent diagnosis of melanoma metastatic to a distant skin site, for which he had started pembrolizumab immunotherapy the week previously. His prostate cancer had originally been diagnosed in November 2011 after a transurethral resection of the prostate performed for urinary obstruction revealed Gleason score 7 prostate adenocarcinoma. In June 2015, he was found to have biopsy-proven prostate adenocarcinoma from a rib metastasis. The patient elected to defer all medical therapy and had his rib metastasis treated with radiation alone. He then had definitive radiation to the prostate in June 2016. His prostate cancer spread to additional bony sites, which were likewise treated with radiation, including radiation to the thoracic spine in July 2017 and the proximal humerus in August 2017, rather than any systemic therapy. In December 2017, he had prophylactic nipple irradiation to prevent gynecomastia in preparation for noncastrating medical therapy with single-agent bicalutamide. On meeting the patient for the first time in January 2018, we elected to continue with the plan for single-agent bicalutamide 50 mg per day, given the patient’s preference and the uncertain prognosis from his metastatic melanoma. His prostate-specific antigen (PSA) was 30.8 ng/mL at the time of treatment initiation and responded rapidly to bicalutamide, reaching a nadir of 1.1 ng/mL in September 2018 ().\nHis melanoma was diagnosed from a shave biopsy of the right superior lateral lower back in August 2015 as localized ulcerated malignant melanoma, unclassified, with nevoid features. It was invasive to at least 1.45 mm and at least Clark level IV, and it had five mitoses/mm2. He subsequently had a microstaging excision and a right back excision with a negative sentinel lymph node in the right groin. In 2017, the patient noticed a new lump on his right lower back scar in 2017. In November 2017, excisional biopsies of his right lower back and right groin both showed metastatic melanoma, as confirmed by immunohistochemistry (IHC) showing positive staining for SOX-10 and MART-1. A 7-mm lesion was also detected on his posterior scalp and was also visible on magnetic resonance imaging of his brain and metabolically active on positron emission tomography (PET)/computed tomography (CT); hence, it was diagnosed as stage IV melanoma. Mutation testing showed an atypical N581I mutation in the BRAF gene, but wild-type status at the BRAF V600 codon. His PET/CT showed extensive osteosclerotic lesions, most of which were not fluorodeoxyglucose (FDG) avid, consistent with metastatic prostate cancer. The most avid lesion in the right ischium had a maximum standardized uptake value (SUV max) of 7.2 but was biopsied and found to be metastatic prostate adenocarcinoma, as confirmed by IHC assessment that demonstrated NKX3.1 expression. He began treatment of his metastatic melanoma with pembrolizumab 200 mg intravenous every 3 weeks and received four treatments before the pembrolizumab was stopped because of the development of pneumonitis. This treatment resulted in a complete response in his melanoma as assessed by physical examination of his scalp lesion. His pneumonitis was treated with a taper of prednisone, which was reduced to physiologic dosing by August 2018.\nHowever, despite evidence of response in his melanoma by physical examination, there was concern for progression on PET/CT in June 2018, with FDG update in the descending colon/small bowel wall, perisplenic region, a mildly FDG-avid left internal iliac lymph node, and a right external iliac nodal conglomerate encasing the right ureter, 4.1 cm in diameter and with an SUV max of 11.7. By December 2018, the right pelvic mass had increased in size to 4.4 cm and in metabolic activity to SUV max 19.8 (). At this time, he was also noted to have multiple small lung nodules of unclear etiology. Because the appearance of the right pelvic mass was judged to be atypical for either prostate cancer or melanoma, it was biopsied by pelvic laparoscopy in November 2018 and was found on surgical pathology assessment to be consistent with a high-grade carcinoma with squamous features (). IHC assessment demonstrated neoplastic cells positive for p63 and GATA3, but negative for PSA and NKX3-1 expression. Urine cytology also showed atypical urothelial cells. We performed exome sequencing using the University of Michigan OncoSeq panel (MI-OncoSeq) and whole transcriptome analysis on formalin-fixed paraffin-embedded tissue from this biopsy. All patients enrolled in the MI-OncoSeq study provided written informed consent approved by the University of Michigan Institutional Review Board. Consent is inclusive of publishing information and/or images from participants (or their designate). However, results were limited because of low tumor content, estimated to be less than 10%. The variant allele fraction of mutations spanned 1% to 6%, and no copy number aberrations were detected (). Because the pelvic mass was causing pain and urinary obstruction, we elected to treat it with a platinum doublet active in urothelial carcinoma and carcinoma of unknown primary, despite not knowing the tissue of origin. In January 2019, we began carboplatin area under the curve 5 mg/mL/minute on day 1 and gemcitabine 1,000 mg/m2 on days 1 and 8 of 21-day cycles, and we completed six cycles before stopping because of progressive fatigue. The patient experienced some improvement in pain, but the size of the right pelvic mass was largely unchanged ().\nIn June 2019, while being treated only with bicalutamide, the patient was noted on CT scan as having a 1.4-cm nodule in the superficial anterior abdominal wall, which subsequently became easily palpable and caused skin erythema. This nodule, together with smaller adjacent nodules, was removed by excisional biopsy in July 2019, where surgical pathology assessment demonstrated tumor features consistent with metastatic squamous cell carcinoma (). A fresh portion of this specimen was sent for analysis using the MI-OncoSeq platform. This specimen showed a much higher tumor content of 54%, allowing the discovery of additional molecular alterations.\nResults were discussed at the University of Michigan Precision Medicine Tumor Board in September 2019. Somatic aberrations detected in the previous sample were detected in the new biopsy specimen, suggesting clonal relatedness, and additional alterations consistent with the increased tumor content were noted as well (). Most curiously, we noted a few reads of chimeric transcripts supporting a gene fusion between TMPRSS2 exon 1 and ERG exon 2, accompanied by a focal deletion located in the intergenic region between the two genes and breakpoint visible on the copy number profile ( and ). Fusions between the TMPRSS2 locus and Ets family transcription factors occur in nearly one half of prostate cancers in the United States and, to our knowledge, do not occur in other cancers. Given the presence of this pathognomonic gene fusion and the patient’s history of prostate adenocarcinoma, we concluded that his squamous cell carcinoma had arisen from his prostate cancer. To further confirm the findings, we subsequently performed IHC analysis, which showed positive ERG expression on the patient’s initial prostate transurethral resection, which was strongly positive for ERG protein (). We further performed ERG IHC assessment on the patient’s recent abdominal biopsy, which demonstrated focal and weak-to-moderate ERG protein expression, supporting a clonal phenotypic origin and evolution from the patient’s original conventional (acinar) prostatic adenocarcinoma ().\nArmed with the knowledge that this patient’s squamous cell carcinoma was either a trans-differentiated or metaplastic variant of prostate cancer, we discussed the possible therapeutic implications at this point, when the patient was taking only single-agent bicalutamide. For prostate adenocarcinoma, the addition of medical castration, likely in addition to either abiraterone and prednisone or a nonsteroidal second-generation antiandrogen, would have been a reasonable next line of therapy. However, the transcriptomics data of the MI-OncoSeq platform showed low expression of the androgen receptor and androgen responsive genes KLK2, KLK3 (PSA), TMPRSS2, ACPP, and SLC45A3 (). In keeping with these findings, his PSA level was only 3.1 ng/mL at this point. Therefore, we concluded that additional therapy targeting androgens or the androgen receptor was unlikely to be successful. Similarly, we examined markers for neuroendocrine carcinoma, the most common nonadenocarcinoma type of prostate cancer. However, expression of the neuroendocrine markers SYP, CHGA, CHGB, and NCAM1 were also low (). Therefore, we did not plan chemotherapy with a regimen such as carboplatin and etoposide, which is active against small-cell neuroendocrine carcinomas.\nWe examined the remainder of the molecular results in an effort to find alternative, clinically actionable molecular targets. We noted two alterations associated with PTEN and Akt signaling: an activating mutation in PIK3CA and a homozygous deletion in PTEN itself (). Inhibitors of mammalian target of rapamycin (mTOR) have been suggested for use in PTEN-deficient tumors. However, overall, the results for mTOR inhibitors in prostate cancer have been disappointing. Some randomized data support the use of PI3K inhibitors in metastatic castration-resistant prostate cancer. However, this was in combination with abiraterone, which made PI3K inhibitors less attractive in this case, given the patient’s near total lack of androgen signaling. Last, the homozygous deletion of CDKN2B could theoretically sensitize to CDK4/6 inhibitors. However, we decided against this option because CDK4/6 inhibitors have thus far shown disappointing results in prostate cancer. Therefore, we elected to treat with docetaxel, the most common cytotoxic chemotherapy drug for castration-resistant prostate cancer.\nAt this point, the patient’s lung nodules, which were previously indeterminate, had enlarged greatly (). We started treatment with docetaxel at 75 mg/m2 for one cycle, then decreased the dose to 60 mg/m2 because of fatigue, and completed three more cycles. We also attempted bicalutamide withdrawal for the adenocarcinoma component of his disease but resumed bicalutamide and added leuprolide a month later after his PSA continued to rise. The patient reported improvement in right groin pain shortly after initiation of docetaxel. CT completed after three cycles showed an interval decrease in the size of multiple bilateral lung nodules, and a decrease in size of his right pelvic mass, compatible with a therapeutic response ().\nIn this case, we used next-generation sequencing to determine that the patient’s squamous cell carcinoma was actually of prostate origin, because of the presence of a gene fusion between TMPRSS2 and ERG. Transcriptomic and histologic analysis showed minimal evidence of androgen receptor signaling, but it also showed a lack of evidence of neuroendocrine differentiation. Such prostate cancers without evidence of androgen receptor signaling and without neuroendocrine markers have been termed “double-negative” prostate cancers. In more recent work profiling rapid autopsy specimens, investigators identified a squamous subtype of double-negative prostate cancer present in eight of 98 patients. Squamous histology prostate cancer was reported previously but was a rare finding before the development of advanced antiandrogens. However, the detection of squamous and other nonadenocarcinoma prostate cancer subtypes has become more common since the development of abiraterone and nonsteroidal second-generation antiandrogens, possibly as a means to escape continual selective pressure against androgen signaling, a phenomenon that had been described rarely in the past. Some of these double-negative prostate cancer (DNPC) tumors seem to be driven by fibroblast growth factor (FGF) alterations, and trials of FGF inhibitors have recently begun in advanced prostate cancer. Our patient did not have an FGF abnormality. Platinum-based chemotherapy is also commonly used to treat squamous cell neoplasms. In the current case, despite having squamous differentiation, this patient had only stable disease in response to platinum-based chemotherapy.\nAfter using whole exome sequencing and RNA sequencing to identify this tumor as a squamous neoplasm of prostate origin, we elected to treat him with an agent approved for prostate cancer (docetaxel), an agent we would not have elected to use without knowing the tissue of origin. We elected not to pursue the therapies that could target molecular alterations in his tumor because of the known survival benefit of docetaxel in men with advanced prostate cancer, but therapies targeting his tumor’s molecular alterations remain options down the road if his disease progresses. In summary, this report demonstrates a case of transdifferentiation of a prostate adenocarcinoma to a DNPC tumor with squamous differentiation without evidence of an FGF alteration. Consideration should be given to docetaxel in patients with tumors of a similar phenotype. |
A 17-year-old Pakistani girl presented to our hospital with the complaints of productive cough, vomiting and high grade fever for one week. A diagnosis of acute bronchopneumonia was made on the basis of physical examination (tachypnea, basilar pulmonary crackles, fever) and postero-anterior view (PA) chest X-ray (right apical cavitation). She was admitted to the hospital and treated with intravenous antibiotics. Her sputum cultures grew Pseudomonas aeruginosa and her antibiotics were modified accordingly.\nPast medical history of the patient was significant for recurrent respiratory tract infections since childhood; many of these episodes were associated with otitis media without perforation of the tympanic membrane. She had visited multiple doctors in the past few years and had been treated for tuberculosis up to three times in the past for a total of twenty four months in addition to receiving multiple courses of antibiotics. Her sputum smears and cultures for acid fast bacilli had not been positive. Her past history was negative for signs and symptoms of malabsorption, recurrent cutaneous infections or regular nasal drip. She had a history of primary amenorrhea at the time of initial presentation to us. She weighed 41 kg and her body mass index was 19.5 kg/m2 at that time.\nAfter an uneventful discharge from the hospital for the bronchopneumonia, the patient was followed up on an out-patient basis for further workup. In view of the history of recurrent infections, the possibility of bronchiectasis secondary to a variety of underlying pathologies such as post-infection, immunodeficiency syndromes or ciliary dyskinesia disorders was considered. Cystic fibrosis was also an important consideration. There was no history of consanguineous marriage in her parents. Computed tomography scan obtained at that time didn’t show features of bronchiectasis. Her sweat chloride test was done as part of the workup. Chemical analysis of a 58 mg sweat sample from the patient showed a result of 22 mmol/L. Her blood analysis for immunoglobulins were performed next, showing a deficiency of IgA, IgG subclass 2 and 4 while her IgE and IgM levels were all normal.\nWithin the next two years, she was readmitted multiple times for severe gastroenteritis, bronchopneumonia and maxillary sinusitis. In addition to several courses of intravenous and oral antibiotics, she also received intravenous immunoglobulins (IVIG) on four separate occasions to help her cope with crisis secondary to severe systemic infections. She showed a successful resolution of the crisis after administration of intravenous immunoglobulins. The possibility of regular monthly administration of IVIG was discussed with the patient but not opted for due to financial constraints.\nAbout five years after the initial diagnosis of primary immunoglobulin deficiency was made, she presented with localized cervical lymphadenopathy and a month’s history of fever. Her laboratory tests showed anemia (hemoglobin = 9.4 g/dl), leukocytosis (total leukocyte count = 14.7 × 109/L), thrombocytosis (platelets=441 × 109/L) and a Lactate Dehydrogenase (LDH) of 404 IU/L. In view of her immunodeficiency, we immediately biopsied the cervical lymph nodes. Histopathological examination of the lymph nodes showed scattered cells with vesicular nuclei, occasionally prominent nucleoli and mitosis in the background of histiocytes, plasma cells and lymphocytes. Based on positivity of LCA, CD 20, CD 3 and CD 30 along with a proliferative index of 30-40, a provisional diagnosis of intermediate grade non-Hodgkin’s lymphoma was made. Bone marrow biopsy confirmed these findings.\nA complete radiological work-up was done using CT with contrast. It showed no mediastinal lymphadenopathy, multiple enlarged lymph nodes in the neck at levels 1, 2, 3 and 4 bilaterally along with left supraclavicular lymph nodes, bilateral enhancing axillary lymph nodes, hepatosplenomegaly, multiple large enhancing notes in peri-pancreatic, aorto-caval, celiac axis, para-aortic and mesenteric locations. She is currently receiving chemotherapy for intermediate grade non-Hodgkin’s lymphoma.\nHer last chest X-ray showed development of fibrotic changes in right upper, middle and lower lung zones as well as bronchiectatic changes in the left basilar region. This most likely occurred in association with the multiple respiratory infections the patient has had in the past. |
A 52-year-old Chinese man was admitted to the Department of Neurology at The First Hospital of Changsha on 1 August 2019. He had been continuously taking warfarin at a dosage of 3.125 mg/day since having undergone mechanical mitral valve replacement surgery 3 years previously. His most recent international normalized ratio (INR) had been measured 1 week before presentation, and the result was 2.2. Two days before admission, the patient suddenly developed low back pain with no obvious cause followed by nausea and vomiting. He was diagnosed with acute myelitis at a local hospital. The next morning, the patient developed a lack of bilateral leg strength, numbness spreading across his feet and chest, urinary incontinence, and a fever of 38.44°C. At the time of admission to our hospital, a CT scan showed no brain abnormalities. A urinary catheter was inserted, and the patient was transferred to the Department of Neurology at our hospital for further examination and diagnosis.\nUpon admission, the patient was conscious and alert with a good sense of direction. His back pain had become less severe than that experienced during the occurrence of paraplegia and numbness; however, he developed a mild headache. Physical examination showed flaccid paraparesis in both legs and an obviously rigid neck. His cranial nerves remained intact. Based on the patient’s history and neurological test results, we performed a lumbar puncture on the day of admission. The cerebrospinal fluid (CSF) was bloody at all three puncture sites; therefore, we concluded that the attempts had been unsuccessful because of puncture injury. The patient underwent a spinal CT scan, which revealed degenerative change in the lumbar spine and a Schmorl node at T9 (). However, no cauda equina or nerve root compression was observed. An urgent brain CT scan showed no abnormalities. Because the patient had a history of mechanical valve replacement surgery, magnetic resonance imaging was contraindicated. Examination of the peripheral blood showed that the INR was 1.95 and that the prothrombin time (PT) was 1.96 s. On the second day, the patient’s brain CT results suggested SAH (). We performed another lumbar puncture, and bloody CSF was retrieved again in three test tubes, thus confirming SSH (). On the third day, the patient experienced more frequent headaches, and the back of his neck grew increasingly more painful. A second brain CT scan showed a high-density area in the left posterior occipital region that was compatible with SAH (). Repeated blood tests revealed a PT of 21.3 s and INR of 1.86.\nIn view of the negative spinal CT results, we performed spinal angiography. Still, no arteriovenous malformation or other vascular abnormalities were found (). Considering the patient’s medical history and clinical manifestations, we temporarily stopped his anticoagulation treatment and administered vitamin K to reverse the anticoagulation, aminocaproic acid to induce hemostasis, and nimodipine to prevent vasospasm; we also performed CSF replacement. Continuous lumbar punctures produced fluid containing hemorrhage and yellow pigmentation (). The high-density area in the left posterior occipital region and the SAH markers were negative after 12 days of follow-up (). Therefore, the patient restarted his warfarin treatment at 1.25 mg/day. At this time point, his PT and INR were 16.5 s and 1.44, respectively. Three days later, we adjusted his warfarin dosage to 2.5 mg/day. Another 2 days later, the patient developed nasal hemorrhage with a PT of 17.3 s and INR of 1.52. Nasal endoscopy examination revealed chronic rhinitis with no other abnormalities. Therefore, we adjusted the warfarin dosage to 1.875 mg/day. Neither nasal bleeding nor cerebral or spinal hemorrhage occurred thereafter.\nThe SSH in this case was presumed to have developed as a result of the oral anticoagulant therapy based on the rise in the PT and INR. Therefore, the dosage was altered accordingly. Because the patient’s general condition was relatively weak and continuous anticoagulation treatment is more effective than sporadic treatment, we performed no surgical treatments. The patient was finally discharged 32 days after admission. Some functional improvements were observed after discharge; he became able to move himself with a standing turner and the assistance of another person instead of entirely depending on others. |
An 81-year-old female patient presented to our emergency department with acute onset of hematemesis and melena. On admission, the patient appeared to have a poor general health condition and was hemodynamically compromised. Her initial laboratory exams revealed a hemoglobin concentration of 7.7 mg/dl without leukocytosis or C-reactive protein (CRP) elevation. The patient had a history of a 6.5 cm gastrointestinal stromal tumor (GIST) of the cardia, for which she initially received downsizing treatment with imatinib 400 mg/d, followed by surgical resection of the gastroesophageal junction and reconstruction with a jejunal interposition (Merendino procedure) 4 years earlier (). Histopathological studies of the tumor revealed a T3-tumor with a positive c-Kit mutation in exon-11 and a Ki-67 proliferation rate of 15%. The risk for disease progression based on Miettinen's criteria was determined as high (size > 5 cm; mitosis rate > 5/HPF), and the patient was subsequently placed on 1st line adjuvant therapy with imatinib 400 mg/d []. After two years on 1st line treatment, the patient developed hepatic and peritoneal metastasis and was placed on sunitinib as 2nd line therapy for metastatic GIST. Treatment with a proton pump inhibitor (PPI) was suspended for an unknown reason two years prior to presentation.\nThe patient was immediately transferred to our intensive care unit, where she was intubated and received two units of packed red blood cells (pRBCs). An emergency gastroscopy was carried out, which revealed active bleeding from a vessel stump in the jejunal interposition, corresponding to a Forrest stage I b upper gastrointestinal bleed. The bleeding was successfully stopped endoscopically by local injection of adrenaline and the application of polymer powder. A CT scan of the thorax and abdomen showed no signs of active bleeding or free abdominal fluid (). The known hepatic and peritoneal metastasis were described as constant in size, but increasingly necrotic compared to a previous CT scan. Due to a renewed drop in the hemoglobin concentration during the course of the day, a repeat gastroscopy was performed. This time, it showed diffuse bleeding without a circumscribed source. As a result, we acted to stabilize the coagulopathy by transfusing the patient with 9 units of pRBCs, 6 units of fresh frozen plasma (FFPs), and 6 units of platelet concentrates. In addition, the patient received 3 g of fibrinogen and 4000 IU of PPSB®, a prothrombin complex concentrate containing the coagulation factors II, VII, X, and IX.\nOn the second day after admission, a temporary improvement in the clinical condition of the patient was observed. It was possible to extubate the patient, who was hemodynamically stable with no signs of active bleeding. A phase of atrial fibrillation was cardioverted following treatment with a beta blocker, digoxin, and amiodarone. On the third day following her admission, the patient's condition deteriorated rapidly with the occurrence of fever, gross hematuria, and decreased oxygen saturation. A delayed hemolytic transfusion reaction was suspected, and positive Rh antibodies (anti-c antibody) were detected. Clinically as well as biochemically, the patient was suffering from a hemolysis with a decline of the hemoglobin concentration to 4.8 mg/dl and an increase of lactate dehydrogenase (LDH) to 3842.0 U/l. Given the lack of a septic focus, only a marginal increase in the inflammatory parameters, and pending blood culture results, no antibiotic treatment or surgical therapy was initiated. Due to imminent respiratory failure, the patient was reintubated. Vasopressors, atropine, and crystalloid solutions were administered to treat bradycardia and shock. However, the patient died on the same evening, following an unsuccessful cardiopulmonary resuscitation.\nThe results of blood cultures taken on the day of the patient's death revealed gram-labile rods without bacterial growth after two days. The subsequent external analysis confirmed bacteremia with C. perfringens and the detection of the alpha toxin gene by polymerase chain reaction, but without any traces of the beta toxin, enterotoxin, epsilon toxin, or iota toxin. The autopsy of the patient revealed a 6 cm sized local recurrence of the GIST and multiple necrotic liver metastases. In addition, a diffuse spread of C. perfringens in multiple organs with advanced tissue lysis was histologically confirmed (Figures –). The mucosal ulcer of the jejunal interposition was located 1.5 cm distal to the esophagojejunal anastomosis, which itself was intact. Death due to a septic-toxic shock caused by C. perfringens sepsis was determined as the cause of death. A contamination of the administered blood products with C. perfringens as the source of the infection was excluded by a subsequent analysis, which was confirmed by an external laboratory. |
The patient is a 57-year-old female who underwent cardiac catheterization via the right common femoral artery two weeks prior to developing a large, symptomatic right common femoral artery pseudoaneurysm ().\nThe patient began complaining of groin pain two weeks after cardiac catheterization. She has a past medical history of aortic valve replacement secondary to aortic valve infective endocarditis, hyperlipidemia, and hypertension.\nShe underwent two attempts of ultrasound-guided thrombin injection of the pseudoaneurysm. On ultrasound, the size of the pseudoaneurysm was found to be 5 cm × 3 cm × 4.6 cm. The neck of the pseudoaneurysm was measured to be 0.8 cm long. The two attempts involved using a 21 gauge needle to administer 1000 units and 2000 units of thrombin, respectively, into the pseudoaneurysm under ultrasound guidance and with the assistance of compression. Due to the size of the aneurysmal cavity and a relatively large pseudoaneurysm neck, injections were found to be unsuccessful on follow-up ultrasound (Figures and ). It was then decided to attempt endovascular closure of the neck of the pseudoaneurysm. All risks were discussed with the patient.\nAfter identification by the attending surgeon, the patient was transferred to the procedure room table in the catheterization lab. The patient received IV sedation, and local anesthesia was used prior to ultrasound-guided percutaneous access to the left common femoral artery. During the procedure, vital signs, including blood pressure, heart rate, respiratory rate, and oxygen saturation, were monitored by an ACLS certified nurse.\nAfter a 21 gauge needle was placed into the projection of the vessel lumen, a guidewire was placed into the left iliac artery. An angiographic catheter and guidewire were used to perform selective cannulation of the contralateral right common iliac artery. Then, a 6 French long access sheath was placed to perform an angiogram. The neck of the pseudoaneurysm was visualized (), and a 0.014 guidewire was placed into the proximal portion of the neck.\nA 21 gauge needle was used to cannulate the proximal portion of the neck percutaneously from the right groin. The previously placed guidewire was used as a landmark to place the tip of the 21 gauge needle into the pseudoaneurysm. After blood return was noticed from the needle, a 0.018 guidewire was placed into the lumen of the right common femoral artery. A 6 French access sheath was placed over the guidewire. Fluoroscopy was then used to visualize the deployment of a vessel closure device (VASCADE 6 French). This was done without difficulty, and the collagen patch was positioned outside the vessel wall in the area of the pseudoaneurysm neck. Interval angiogram revealed partial occlusion of the pseudoaneurysm neck ().\nIt was then decided to place an occlusive 8 mm balloon into the lumen of the right common femoral artery to facilitate pseudoaneurysm thrombosis. The balloon was insufflated up to 8 ATM for 600 seconds. This was done twice in total. Interval angiogram then revealed complete occlusion of the pseudoaneurysm blood flow (Figures and ).\nAll wires and catheters were removed at this point, and a left common femoral artery access sheath was kept in overnight. Postoperatively, the patient had no complications, and formal ultrasound confirmed complete thrombosis of the pseudoaneurysm. The access sheath was then removed without issue. There were no ischemic complications due to balloon occlusion in the immediate postoperative period. |
Our patient is a 67-year-old Hispanic male who presented to our hospital for the chief complaint of progressive worsening of shortness of breath of 3 weeks duration and was admitted for acute respiratory distress due to interstitial lung disease of unknown etiology. His medical history includes coronary artery disease, status postpercutaneous coronary intervention in 2010, hypertension, hyperlipidemia, and diabetes mellitus type 2. He has a significant smoking history of 20 to 30 pack-years and a significant history of alcohol drinking consuming 12 cans of beer per day for 30 years. He has quit smoking and drinking for 10 to 15 years. He works as a janitor and has no significant occupational exposure to asbestos or silicone.\nSix months prior to the day of admission, the patient had complaints of dry cough for which he visited his primary care physician and was prescribed over-the-counter cough suppressants with no relief. The patient had a chest X-ray done at this time which showed mild hazy changes in bilateral lung fields (). The patient continued to have dry cough and eventually developed progressive shortness of breath with no dyspnea at rest. The patient continued to ignore his symptoms until few weeks prior to the day of admission he had significant shortness of breath to the point to which he could not walk to the bathroom in his house. Concerned of this he came to the hospital for further evaluation.\nIn the ED, the patient was brought in by his daughter and he had significant shortness of breath during ambulation which caused him to rest after every few steps. His initial SpO2 on room air was 77% and he was put on 3-litre O2 on nasal canula and his SpO2 improved to 93%. His blood pressure was 134/76 mm of hg, heart rate was 78/min, and respiratory rate was 22/min. On physical examination the patient was awake, alert and oriented, his neck was supple with no jugular venous distension, his heart sounds were audible with no murmurs or gallops, and auscultation of his chest revealed bilateral breath sounds with significant velcro rales on all the lung fields bilaterally. Abdomen was soft and nontender and the patient had no focal neurological deficits. Examination of his extremities revealed no pedal edema but grade 3 clubbing of his finger nails. The patient denied fever, chills, hemoptysis, orthopnea or paroxysmal nocturnal dyspnea, recent travel, or sick contacts.\nChest X-ray in the emergency department showed reticular and hazy markings throughout the both lungs, being worse compared to the previous chest X-ray (). A CT scan of the chest showed extensive honeycombing and bronchiectasis of both lungs which were markedly worse when compared to a CT scan done 4 years ago (). X-rays of both hands and wrists showed early inflammatory arthropathy but the patient denied any joint pain (). 2D echocardiogram showed ejection fraction of 59% with mild mitral regurgitation and no pulmonary hypertension, which was not consistent with CHF.\nConcerning his chest X-ray and CT scan findings, ILD was now the working diagnosis. The differential at this time was idiopathic versus rheumatoid arthritis. Laboratory data showed elevated erythrocyte sedimentation rate 98 (N 0–20), elevated C-reactive protein 17.4 (N ≤ 7.0), elevated rheumatoid factor 275 (N ≤ 10), and elevated cyclic citrullinated peptide >250 (N < 20). To exclude causes of falsely elevated rheumatoid factor, hepatitis C Ab was done which was negative. ANA and DsDNA were both negative.\nThe complete blood count, electrolytes, and renal and liver functions were within normal limits. Lung biopsy was avoided due to the complications of an invasive procedure.\nA diagnosis of interstitial lung disease of the usual interstitial pneumonia (UIP) variant due to rheumatoid arthritis was made. The patient was given intravenous solumedrol 40 mg TID which was tapered and changed to oral prednisone 60 mg daily upon discharge. During his hospital stay he was on nasal O2 3 litres and had episodes of desaturation on ambulation; hence he was discharged with home oxygen. He was advised to continue the rest of his medications for his comorbidities and to follow up with his primary care physician and pulmonologist as outpatient. Eventually the patient was referred to a tertiary care center for lung transplant. The patient is currently on the waiting list for his lung transplant. |
A 25-year-old man presented to our epilepsy center for evaluation of seizures. He was born at term without any developmental delays and had no risk factors for epilepsy including traumatic brain injury, brain surgery, febrile seizures, central nervous system infections, or family history of seizures and no significant past medical or psychiatric comorbidities. Three years prior to his presentation he had his first seizure. He did not remember the event, but while attending basic training in the Army, he was reportedly found in the shower confused by his fellow soldiers. There was no tongue bite or urinary incontinence, but he was disoriented afterward for much of that day. He had another episode within the same month while he was performing physical training exercises, whereby he collapsed and remained confused for hours, but no report of witnessed convulsions. An evaluation at that time was unrevealing. He had 12 episodes in the next 3 years. They were all similar, some associated with lateral tongue laceration suffered during the event. He was seizure-free for 6 months and then began to have spells at least monthly. He denied an aura or premonition preceding his seizures. His wife reported at night that he would “cry” at the onset and then appears to have clonic jerking bilaterally and symmetrically, up to 3 minutes in duration. He was reported to be distressed for a few minutes after the episodes. Brain MRI was reportedly normal and EEG abnormal, but the reports were unavailable. He had been taking levetiracetam 3000 mg daily with topiramate 50 mg daily. He had also tried valproic acid but reportedly had abnormal labatory studies so this was discontinued. At his appointment, it was determined that he would continue his current regimen of levetiracetam, and topiramate was increased to 100 mg total daily. A presumptive diagnosis of epilepsy was made upon clinical grounds though the classification included focal epilepsy localized to the frontal head region or genetic generalized epilepsy manifest as recurrent nocturnal generalized tonic-clonic seizures. At his follow up appointment, a high-resolution 3-T brain MRI was performed and was normal without intracranial abnormalities. EEG demonstrated 3–4 Hz generalized polyspike-and-wave discharges supporting a clinical diagnosis of genetic generalized epilepsy. The patient and his wife had recorded a video of his habitual seizures, which was reviewed an epileptologists (WOT). As noted in the video, he appears agitated and combative and is thrashing his extremities in a non-rhythmic and discontinuous manner with side to side head movements with eyes closed (). He and his wife were clear that this was the semiology of his typical seizure. The side to side head movements, eye closure, and discontinuous nonrhythmic hypermotor activity suggested FS . He was subsequently admitted to the epilepsy monitoring unit for LTVEM for differential diagnosis and classification of recurrent events. During the admission, EEG redemonstrated interictal generalized spike and polyspike and slow wave complexes noted previously. He had one seizure with clinical semiology suggesting a focal to bilateral tonic-clonic seizure due to head version, yet lateralized and focal seizures are known to occur in genetic generalized epilepsies . Despite the appearance of focal features, the ictal EEG demonstrated a generalized seizure onset. Immediately following a definitive diagnosis of epilepsy with electroclinical support from a electroclinical bilateral tonic-clonic seizure, he exhibited the exact same post-ictal behavior that was witnessed in clinic while reviewing the smartphone video. This behavior observed on the smartphone video was therefore able to be linked to his habitual postictal state with violent thrashing that simulated a FS (). In discussion with the patient and his wife, the difference between his seizure and a postictal state with confusion and combativeness was underscored to define a sequence of events rather than separate events. LTVEM was therefore able to establish a diagnosis of genetic genealized epilepsy despite the history suggesting focal epilepsy and the smartphone video suggesting a FS. |
The 71-year-old female was a healthy housewife with no record of medical interventions. She had a family history of cerebral cancer. August 4, 2018, marked the onset of a series of symptoms, including an altered state of consciousness, disorientation and sleepiness and no presence of fever. She first consulted a doctor in private practice and was diagnosed with transient cerebral ischemia. The onset of memory loss and the persistence of the previous symptoms led the patient to seek medical attention in a public hospital where she was admitted and blood analysis was performed. The only alteration in the basic blood panel was high blood pressure, with a value of 149/100 mmHg. Pallor was observed in the skin and integuments. Neurological examination only showed cognitive impairment with bradypsychia, disorientation in time and space and difficulty in carrying out simple calculations, with no fever or meningeal signs. Nuclear magnetic resonance imaging using gadolinium contrast (NMRI) of the brain revealed multiple bilateral cystic lesions containing varying amounts of fluid (white arrows in Fig. Ab). The lesions were detected in several brain locations: the frontal, temporal and occipital lobes (Fig. Aa-d) and in the supra- and infratentorial zones (Fig. Ba-d). Since some of the lesions were compatible with a diagnosis of colloidal vesicular phase neurocysticercosis, because the hospital did not have a stereotaxic frame and due to the multiple locations of the abscesses, the patient was submitted to a right temporal craniotomy under general anesthesia on August 25, 2018. The layers of tissue were separated, working from the skin to the brain and through the superior temporal sulcus. A cyst (without capsule) was removed from the right temporal lobe, which had a diameter of approximately 5 mm, contents with a milky not suppurative aspect and a periphery composed of soft whitish tissue (see supplementary video). A fragment of biopsy-extracted tissue was fixed in formaldehyde at 10% to be processed for histopathological examination. The surgical lesion was closed in layers from the dura to the skin.\nThe patient was discharged on September 3, 2018 with a diagnosis of probable neurocysticercosis and possible hydatid cysts. The sample was not grown in bacterial culture, and the medical ethics committee decided to perform a histopathological study and ELISA to obtain a definitive diagnosis.\nBrain biopsy tissue showed a large necrotic area with an amoeboid structure (red arrow) on the periphery of the brain tissue abscess (Fig. ). The presence of E. histolytica trophozoites in cerebral biopsy specimens was confirmed by immunohistochemistry using a rabbit polyclonal anti-E. histolytica antibody [] (Fig. a) and mouse anti-140 kDa fibronectin (FN)-binding protein (EhFNR) [] (Fig. c). Furthermore, staining with rhodamine phalloidin revealed amoebic structures rich in actin filaments that formed adhesion plaques and macropinosomes (Fig. b, yellow arrows). The rest of the brain tissue was positive for glial fibrillary acidic protein (GFAP) (Fig. d) by immunofluorescence.\nThe presence of E. histolytica in the cerebral tissue was corroborated by PCR, and an 128 bp amplicon of the E. histolytica rRNA gene (NCBI Accession number X65163.1) was cloned from cerebral tissue with the CloneJET PCR Cloning Kit (Thermo Scientific). DNA sequencing was performed in the Unit of Molecular Biology of the Institute of Cellular Physiology (National Autonomous University of Mexico) (Fig. ). Interestingly, the ELISA of the patient serum did not find IgG antibodies against E. histolytica or amoebic proteins. Absorbance data analysis showed a cutoff for the negative control of 186.38; the median for amoebic cerebral abscess patients was 111.5, a number below that of the negative control; however, the median for the positive control was 477.3 (Fig. a and b). Based on a diagnosis of amoebic brain abscess, the patient was treated with ceftriaxone (2 g IV every 12 h), metronidazole (750 mg IV every 8 h), and dexamethasone (8 mg IV every 8 h) for 4 weeks, and no antiepileptic drugs were administered. A deteriorating condition led to her readmission to the hospital on October 14, 2018, and she died four days later. |
A 12-year-old female patient was referred by a private practitioner who detected a mass of soft tissue on the palatal aspect of tooth 11. The patient had a history of alveolar cleft repair done about 1 year back. Clinical examination revealed an extensive soft tissue mass in a palatal defect of tooth 11 []. Gentle exploration revealed that besides loss of the palatal enamel there was also loss of enamel from the interproximal areas of the tooth. However, the labial surface of the tooth was intact. The tooth responded to thermal and electric pulp testing within normal limits. A periapical radiograph revealed a large irregular radiolucency in the coronal region of the tooth extending mesiodistally and slightly into the coronal radicular dentin []. A diagnosis of Class 2 external cervical resorption was made.\nGlycerol was applied to the adjacent tissues to form a protective film. Isolation was achieved using the cuff rubber dam technique. A small cotton pellet was then dipped in 90 percent trichloroacetic acid and the excess was removed by dabbing it on a piece of gauze. The cotton pellet was then applied over the resorptive tissue mass with gentle pressure for about 1 minute. The tissue mass underwent necrosis with repeated application of trichloroacetic acid which was curetted out till a sound dentinal base was revealed []. Care was taken to see that the interproximal areas of the tooth were thoroughly debrided. The cavity was then refreshed with a high speed bur and restored with glass ionomer cement [].\nTrichloroacetic acid is a chemical escharotic agent that causes coagulation necrosis and renders the resorptive tissue avascular.[] The use of trichloroacetic acid does not necessitate raising a flap to gain access to the lesion. This eliminates the possibility of active resorbing cells present in the flap from being repositioned over the repaired root surface.[] However, due to the caustic nature of the acid, certain guidelines need to be followed as outlined by Heithersay:[] a. The adjacent soft tissues should be protected with glycerol, b. A thin glycerol impregnated cotton roll should be placed into the gingival sulcus for added protection, c. The cuff rubber dam technique should be employed to prevent slippage of the acid impregnated cotton pellets into the oral cavity, d. Very small cotton pellets or mini applicators must be used and excess solution should be dampened on gauze, e. Tweezers used to carry the cotton pellets must not be used for other purposes during the procedure.\nA reduction of the microhardness in both dentin and enamel has been reported following the use of trichloroacetic acid.[] Hence, restorations that will reinforce the weakened tooth structure are recommended. Chemical adhesion to tooth structure favours glass ionomer cement as the restorative material of choice.[] Recently a ‘reverse sandwich restoration’ comprising of microfilled resin composite and resin modified glass ionomer cement has been proposed to overcome the hydrolytic instability of glass ionomer cement. The microfilled resin tends to flex with the tooth thus reducing the chances of debonding.[]\nTrichloroacetic acid etches dentin and enamel and hence, conditioning is not recommended prior to insertion of the glass ionomer cement.[] However, refreshing the tooth surface with a bur is necessary because dentin that has been treated with trichloroacetic acid is severely demineralised and is not suitable for bonding with either dentin-bonding agents or glass ionomer materials.[] |
A 61-year-old woman was seen in a clinic complaining of fever and dyspnea lasting 2 weeks. She was diagnosed with left pneumonia by computed tomography (CT) and referred to our institution. At the time of presentation, she had dyspnea and a fever over 38 °C. Her Eastern Cooperative Oncology Group (ECOG) performance status score was 2, and her Hugh-Jones classification was IV. Rhonchi were evident in the anterior chest. Laboratory studies showed an increased inflammatory response. All tumor markers were within normal limits. The chest X-ray revealed an infiltrative shadow in the lower left lung field. CT imaging showed a solid left main bronchial tumor with carinal involvement. Cartilage destruction was apparent, and the boundaries between the tumor and the esophagus and descending aorta were unclear (Fig. ). Therefore, tumor infiltration into the esophagus and descending aorta was suspected. We diagnosed her with obstructive pneumonia due to a tracheobronchial tumor. For the purposes of securing the airway, performing a tissue diagnosis and evaluating the extent of tumor progression, rigid bronchoscopy was initially performed. The tumor almost completely occluded the left main bronchus, and tumor hemorrhage was evident. By coring out the tumor, the left main bronchus was reopened, and detail of the involved area was revealed. The tumor originated from the left main stem bronchus and occupied almost the entire left main stem bronchus. Two tracheal cartilage rings above the carina and one right main stem bronchial ring distal from the carina were invaded by the tumor (Figs. and ). The pathological examination showed three typical types of histology (cribriform, tubular, solid pattern), and she was diagnosed with tracheobronchial adenoid cystic carcinoma. The rigid bronchoscopic treatment resulted in a significant improvement in the patient’s general condition and cardiopulmonary function (PS 2 → 0, H-J IV → I). Fluorodeoxyglucose-positron emission tomography (FDG-PET) showed abnormal enhancement in the tumor with a maximum standard uptake value of 5.3. At the other sites, abnormal FDG uptake was not observed. We determined that if the tumor did not infiltrate the surrounding organs, complete resection would be possible via LSP. Even if a microscopic lesion remains in the resected stump, we can expect improvement in prognosis by administering additional postoperative irradiation. Therefore, we decided to perform the surgery.\nTo evaluate the presence of out-of-wall invasion, we proceeded with the left-side operation in the right lateral decubitus position by complete VATS with three ports in a look-up setting (Fig. ). A right-sided double lumen endotracheal tube was used. Initially, the pleura was opened along the subaortic window. We observed no tumor infiltration into the left recurrent laryngeal nerve, esophagus, or descending aorta. Next, we performed a left pneumonectomy by complete VATS. The left pulmonary artery and vein were dissected into their extrapericardial sections by staplers. Subsequently, the left main stem bronchus was cut near the second carina (where the tumor had not progressed) using the stapler. A protective bag provided easy removal of the left lung from the pleural cavity without enlarging the skin incision. After that, the tracheal carina was exposed circumferentially, and the lower trachea and right main stem bronchus were identified by forceps manipulation. The left chest was closed. After exchanging for a 7.5-Fr single-lumen endotracheal tube, the surgical position and approach were switched to the left lateral decubitus position with a posterior lateral incision and a fourth intercostal thoracotomy. Low volume ventilation with small expansion of the right lung simplifies the operation. Prior identification via left thoracotomy around the carina provided easy circumferential exposure of the trachea, carina, and right main stem bronchus after dissecting the azygous vein. Then, the right main stem bronchus was dissected at the two rings distal from the carina followed by surgical field intubation using a 6.5-Fr spiral tube with a short cuff. The tracheal carina was removed after dissection of the three rings above the carina (Figs. and ). Under surgical intubation, the trachea and right main stem bronchus were anastomosed with a telescope technique using interrupted sutures with full-thickness bites and 4-0 PDS. After completing a left-side semicircle anastomosis by surgical intubation, a right-side semicircle anastomosis was performed under intermittent removal of the tube after sufficient oxygenation during one or two stiches. There was no requirement for prepared jet ventilation. The anastomotic site was wrapped with the intercostal muscle pedicles, and the operation was terminated. To avoid tension on the anatomic site, the chin was tagged to the anterior chest wall by two sutures for 2 weeks. Pathological analysis revealed no tumor component in the resected stump, and we achieved complete resection. After the operation, the patient experienced a panic attack, and hospitalization was prolonged. She improved with psychiatric intervention. She was discharged and walking independently on postoperative day 79. Unfortunately, recurrence via bone metastasis to the left humerus was observed 6 months after surgery, and palliative irradiation is underway. We are currently monitoring her progress.\nLSP is one of the most challenging operations in thoracic surgery, and surgical approaches need to be individualized. Bilateral thoracotomy and median sternotomy are often favored; [] however, as thoracoscopic surgery becomes mainstream, newer and less invasive approaches for extended surgery, such as LSP, are employed.\nCases for which LSP is indicated are generally locally advanced malignant tumors that often involve surrounding organs, and proper assessment is critical. If tumor invasion to the surrounding organs is suspected and preservation of the left lung cannot be expected upon initial diagnosis, this minimally invasive combined thoracoscopic approach has several advantages. With initial left-sided VATS, resectability can be evaluated in advance and in a less invasive manner than with thoracotomy. Confirmation of no invasion to the surrounding tissue makes left pneumonectomy beneficial. Right thoracotomy provides safety and precise anastomosis at the time of carinal reconstruction.\nAn initial right thoracotomy could be considered, but it is difficult to evaluate tumor involvement in the left thorax []. Initial right thoracotomy requires tube intubation through the narrowed left main stem bronchus with tumor invasion. It is difficult to insert a large caliber tube enough to maintain ventilation and oxygenation. In recent years, the usefulness of the clamshell approach for carinal reconstruction has been reported, [] but it has several disadvantages, such as poor visibility of the esophagus and descending aorta and the requirement of extensive detachment of respiratory muscles. The disadvantage of poor visibility is similar in anterior approaches such as the transsternal and hemi-clamshell approaches. However, our approach requires a position change, and there are also disadvantages relative to providing ventilation during airway anastomosis, which is complicated and difficult to address in an emergency. In our case, small volume ventilation from the surgical field provided precise anastomotic maneuvering. Because of the difficulty of laryngeal release, this approach is not suitable when the resection length of the trachea is relatively long. |
A 4-year 7-month-old boy and his parents were referred to the Pediatric Dentistry Postgraduate Program Clinic in June 2016, requesting dental treatment due to multiple dental caries cavities, local infectious processes, and associated pain. Two years previously, the patient had been diagnosed with early infantile GS, confirmed on the analysis of the beta-GAL both in peripheral blood leucocytes and in cultured skin fibroblasts (sequencing of the CTSA gene was not carried out). Previously, the child was insufficiently treated by a pediatric dentist, due to the child's very poor level of cooperation. Only the upper right anterior segment was treated: a pulpectomy procedure on the lateral incisor and extraction of the root remnant of the central incisor. However, the patient did not continue the treatment.\nMedical and dental history revealed that when the child was 1 year of age, his parents noticed the existence of a mild soft outpouching swelling in his lower abdomen, which progressively increased in size. The patient was evaluated at a local public hospital, and the condition was diagnosed as peritoneal ascites, together with three abdominal hernias, due to enlarged liver and spleen.\nAt the moment of the patient's first dental visit, the presence was evident of a huge abdominal growth due to ascites (). According to the treating medical team, this anomaly was unable to be surgically repaired. Because of the significant swelling, the patient had difficulty in maintaining a straightened body posture, and he could not be adequately positioned on the dental chair. In addition, the patient manifested mild mental retardation, language delay, severe bilateral hypoacusia, hepatic damage, and bilateral hydrocele (swelling in the scrotum).\nThe patient's head exhibited a squared form, coarse face, and short neck. The facial profile was markedly convex with an increased lower third, retrusive chin, protruding maxilla, closed nasolabial angle, and manifested lip incompetence (mouth permanently open) (). Intraorally, the examination showed both arches with interdental spacing, carious cavities in all primary molars, a root remnant of the upper left lateral incisor with related abscess fistula and gingival swelling, and macroglossia associated with an evident anterior open bite (). Oral hygiene was very poor, and halitosis was significant.\nThe programmed treatment plan consisted of the placement of composite restorations, pulpotomies and preformed metallic crowns, and extraction of the root remnant. Due to the greatly reduced level of cooperation exhibited by the patient (rated as Frankl's scale level I, definitely negative), it was not possible to obtain X-rays. The patient was very fearful, with clear evidence of treatment refusal, forceful crying, and extreme negativism. Therefore, it was decided to start the treatment with an oral examination, dental prophylaxis, topical fluoride-varnish applications, and the teaching of tooth brushing. Traditional behavioral management techniques, such as conditioning, desensitization, “tell-show-do,” and positive reinforcement, were persistently employed. On the other hand, the patient was unable to maintain a supine or horizontal position on the dental chair due to pain caused by the abdominal hernia. Thus, the patient was approached when he was in a 90-degree seated position, with the aid of his mother. However, all these efforts were unsuccessful. Then, it was decided to treat the patient under general anesthesia, in agreement with the parents, who signed a special informed consent document.\nThe patient was managed according to the American Academy of Pediatric Dentistry (AAPD) guidelines on sedation and general anesthesia. First, the child was sent to the pediatric anesthesiologist for a physical examination and a presurgical health and risk evaluation; respiratory, cardiovascular, and gastrointestinal systems were exhaustively assessed, and blood and urine laboratory tests were indicated; only coagulation times appeared slightly increased. The patient was classified as American Society of Anesthesiologists (ASA) physical status classification III, with lower pulmonary capacity, limited open aperture, macroglossia, and challenging airway access due to decreased diameter. The parents were instructed, through printed guidance, regarding their child's eating and drinking on the day prior to the intervention.\nThe surgical intervention was carried out in August 2016 at the university hospital. After placing routine monitors, according to the American Society of Anesthesiologists standards, general anesthesia was induced via facemask with inhaled fentanyl, lidocaine, propofol, rocuronium bromide, and sevoflurane. Supplemental local anesthesia was also provided at the site of the root-remnant extraction. The extraction site was fully sutured with fine absorbable 6-0 Dexon in order to prevent a potential hemorrhagic episode. The whole surgical procedure lasted approximately 2 hours and ensued without complications. However, the extubation procedure was not possible due to respiratory restriction, and the patient was subsequently transferred to the pediatric intensive care unit (PICU). After 4 days under pharmacological management (dexamethasone, metamizole, ephedrine, clindamycin, and midazolam), together with assisted mechanical ventilation, the extubation could finally be performed. The patient was remitted to the pediatric area, where he was maintained with oxygen nebulization; the case proceeded uneventfully thereafter. He was discharged from the hospital 2 days later.\nThe patient was evaluated at our clinic 15 days after the intervention conducted under general anesthesia. Restorations were found to be in place adequately, and the cicatrization process at the extraction site was uneventful. Then, an individualized oral preventive program was initiated, including dental hygiene practice with a fluoridated paste (1,450 ppm), topical fluoride varnish, MI Paste Plus® applications, and diet counseling. Since then, the patient has been reviewed closely, every month; at each of the visits, the previously mentioned behavior modification techniques were applied in depth. The last control appointment took place in mid-November 2017, during which an excellent oral condition was observed. Currently, the patient is considered a poor candidate for treatment with orthodontic appliances, particularly for treating his anterior open bite. In the meanwhile, the eruption process and occlusal development will be continuously assessed. |
A 10-year-old boy (height, 120 cm; weight, 20 kg) presented with an 8-year history of arteriovenous malformation (AVM) involving the right lower limb. He had been started on sclerotherapy 4 years earlier because of leg length discrepancy causing gait disturbance. However, this treatment was stopped because there was no remarkable improvement. A year before presentation, the AVM had undergone rapid expansion causing significant pain and high-output cardiac failure. Therefore, an amputation of the affected lower limb was recommended at the other hospital.\nOn admission to Kyungpook National University Hospital, an examination revealed that AVM with soft tissue hypertrophy had spread all over the right leg (). A chest X-ray showed marked cardiomegaly with increased pulmonary vascularities (). Electrocardiography showed normal sinus rhythm with right ventricular hypertrophy. Two-dimensional echocardiography showed an enlarged right atrium, right ventricle, and left ventricle, but relatively good left ventricular contractility. The pulmonary artery was also enlarged, but there was no pulmonary edema. Computed tomographic (CT) angiography of the right lower extremity revealed extensive AVM with feeding arteries from the branches of the right profunda femoris and superficial femoral arteries. The venous drainage was through the superficial femoral and deep femoral veins, and there was a marked dilatation of the pelvic vein and inferior vena cava (). The blood investigations were found to be normal.\nOne week before surgery, the patient was scheduled to receive preoperative selective embolization to reduce the size of the AVM and minimize the risk of uncontrolled intraoperative bleeding. For embolization, the radiologist performed catheterization through the left common femoral artery and installed a tourniquet over the right proximal thigh. Soon after, remarkable bradycardia developed due to a baroreceptor reflex-induced abrupt increase in the systemic vascular resistance (SVR), and this procedure was cancelled. After a thorough discussion with the plastic surgeons, orthopedic surgeons, and vascular surgeons, right hip disarticulation was considered to be the best option for improving the patient's quality of life. It was anticipated that the large feeding vessel branches of the right profunda femoris artery, superficial femoral artery, and the large veins draining the limb would be difficult to control during a hip disarticulation. To minimize the chances of torrential hemorrhage, a disarticulation was planned under cardiopulmonary bypass.\nAfter anesthetic induction, an intra-arterial catheter 22G was inserted into the left radial artery to check the invasive arterial pressure and cardiac output by using an arterial pressure waveform-derived cardiac index sensor (FloTrac; Edward Lifesciences LLC, Irvine, CA, USA) and monitor (Vigileo, Edward Lifesciences LLC). Further, a central venous catheter was positioned into the left subclavian vein.\nAfter induction, the mean arterial pressure was maintained between 60 and 80 mmHg. The cardiac index (CI) and the central venous pressure (CVP) were recorded at 10 and 18, respectively, which were considered to be high.\nAfter heparinization, the right iliac artery was cannulated using an 18 French (Fr) cannula, and a 24 Fr venous cannula was placed through the right iliac vein. Partial cardiopulmonary bypass (CPB) was commenced at a flow rate of 1,200 mL/m2/min. The patient's body was maintained at a normal temperature, and the activated clotting time was greater than 400 seconds throughout the CPB. During a partial CPB, a continuous intravenous infusion of milrinone 0.5 µg/kg/min was used to improve the right ventricle function by decreasing the pulmonary vascular resistance. After the initiation of CPB, the CI and CVP were lowered to 2.5 and 3, respectively. The amputation was performed at the level of the proximal one-third of the right femur. The CPB time was 180 minutes. After heparin neutralization using protamine, the patient was weaned off of the bypass with 0.1 µg/kg/min of norepinephrine and 0.5 µg/kg/min of milrinone. Despite the use of CPB, the blood loss was extensive, and a transfusion of 8 units of packed red cells, 6 units of fresh frozen plasma, and 5 units of cryoprecipitate was required.\nHe was extubated on the following day. The postoperative period was uneventful, and he recovered fully with no neurologic deficit. A two-dimensional echocardiography, which was performed a week after surgery, showed a significantly smaller cardiac chamber. Two months after surgery, no residual lesion was observed in a CT angiography (), and a chest X-ray was unremarkable without cardiomegaly (). |
A 67-year-old Caucasian man presented to our hospital after an accident and emergency with a history of five hours of sudden-onset lower abdominal pain. Nine months previously he had been admitted to our hospital with a stroke due to vertebral artery dissection. He developed acute urinary retention at the time, with a residual of 550 mL of urine. He was unable to sense normal bladder filling until he experienced the pain of bladder over-distension. Previous to this he had had no lower urinary tract symptoms. His urological history included an incidental finding of an 11 mm mass upon CT in June 2009 that raised clinical suspicions of a renal cell carcinoma that was under active surveillance. His other pertinent medical history included a left inguinal hernia repair in 2008 that was initiated by using a totally extra-peritoneal approach but was converted to an open repair because of pneumoperitoneum. The patient was a recent ex-smoker, had no significant family history of urological disease, and lived independently. He was taking latanoprost and prednisolone eyedrops.\nHis digital rectal examination revealed a moderately enlarged prostate, and a prostate-specific antigen test returned values within normal age-related limits. He underwent anti-coagulation with warfarin as treatment for the stroke and fitted with a long-term urinary catheter that was left on free drainage.\nFour months after he was fitted with the long-term catheter he had an episode of frank hematuria upon a routine catheter change. A cystoscopy was subsequently performed, which showed edematous urothelium but no focal lesions, as well as an open prostatic fossa. A trial without catheter was performed to determine whether his bladder function had recovered. This resulted in the patient's going back into urinary retention with abdominal pain. Re-catheterization drained 500 mL of urine. The catheter was replaced, and the patient was discharged with an out-patient appointment to discuss future management options.\nIn the interim, the patient presented to the emergency department with acute-onset lower abdominal pain. This pain was associated with diarrhea and vomiting over the preceding 24-hour period. His indwelling urinary catheter was changed without resolution of symptoms or drainage of a significant volume of urine.\nAn examination revealed that he was afebrile and cardiovascularly stable. His abdomen was non-distended but tense with guarding over the lower abdomen. Bowel sounds were heard. Urethral re-catheterization had drained 100 mL of urine with some light hematuria and debris in the catheter bag. Urine analysis showed 4+ blood, 4+ leukocytes, 1+ protein, and +ve nitrites. His blood tests showed neutrophilia (12.3 mL × 109/mL) with a raised C-reactive protein level of 67 mg/L. He was in acute renal failure with a creatinine level of 186 mmol/L (compared with 51 mmol/L three months previously). Plain X-rays showed distended small bowel loops over the central part of the abdomen with a collapsed large bowel and no focal lung lesions or subdiaphragmatic gas. A provisional diagnosis of a urinary tract infection was made, and he was admitted under the care of the physicians. He was treated with intravenous antibiotics (piperacillin/tazobactam combination) and fluid resuscitation.\nHis symptoms failed to settle over the next two days, with continued loose stool, nausea, and vomiting. His urine output was good throughout (> 60 mL/hour), and his renal function normalized. However, he had regular spikes of fever reaching 38.4°C, and his inflammatory markers were raised further. A urological opinion was sought. A consultant urologist diagnosed intra-abdominal sepsis and requested general surgical involvement. CT of the abdomen and pelvis was requested.\nCT showed small bowel obstruction with a transition point just above the dome of the bladder. The patient's bladder was abnormal and diffusely thickened with gas within it that tracked through the bladder dome and into the soft tissues superior and anterior to the bladder, where it was contained and formed several gas pockets that tracked toward the umbilicus. Extensive stranding was present around the dome of the bladder at the point of transition with the small bowel.\nThe patient was taken immediately to the surgical theater for an exploratory laparotomy. A rigid cystoscopy was first performed, which showed a large defect in the dome of the bladder with a possible fistular or urachal mouth in close proximity. Biopsies of the bladder wall were taken close to the defect in the bladder dome. Laparotomy revealed a large defect in the dome of the bladder adjacent to a thickened and abnormal possible urachal remnant (Figure ). The small bowel was dilated without any site of obstruction or bowel pathology. The bladder defect was excised with part of the wall of the bladder to allow repair. Stents, a suprapubic catheter, and two drains were placed. No obvious tumor was seen.\nA histological examination of the bladder wall showed severe transmural inflammation and necrosis predominantly outside the bladder but also involving peri-vesical adipose tissue. The urothelium was reactive but unremarkable. Acute inflammation of the urachal segment extended focally to involve the mucosa, which was lost extensively. In a single section of the bladder wall, a urothelium-lined structure was identified within the lamina propria that was surrounded by smooth muscle. This may have represented a urachal remnant. No tumor, definite urachal remnant, or underlying cause of the inflammation and necrosis was identified.\nFollowing a three-day post-operative stay in the intensive therapy unit, the patient was discharged to a general ward. His recovery was complicated by a post-operative ileus requiring total parenteral nutrition and some superficial wound dehiscence. He was then discharged to rehabilitation in a community hospital 26 days after admission and eventually fully recovered. |
A 29-year old female diagnosed with SLE for 4 years complicated with grade II lupus nephritis presented with status epilepticus. She denied a history of fever on admission, but was treated with cyclophosphamide 1 month prior for an episode of cerebral lupus. She had noticed a papule over the left deltoid region which progressed to an ulcer over 1 week. Fever was noted following several days of hospital admission and the ulcer site became painful. She had worked in paddy fields several months prior to the admission when she was in good health. However, she could not recall any precipitating injury at the affected site during working. She is a mother of two and both pregnancies were uncomplicated. She denied history of alcohol abuse or smoking.\nOn examination she was emaciated and had a GCS score of 15/15 following recovery of status epilepticus. There was no obvious lymphadenopathy. At presentation, the size of the ulcer was about a 3 cm lesion and it gradually developed in to an ulcer with a necrotic center with surrounding erythema. A tentative diagnosis of pyoderma gangrenosum was made with the appearance of the ulcer (Figure ). It gradually advanced into the underlying muscle over 3 weeks of onset despite the antibiotic treatment. Examination of the cardiovascular, respiratory systems, and the abdomen was normal.\nHer full blood count, blood picture, and other supportive investigations showed evidence of microangiopathic hemolytic anaemia, which was suggestive of thrombotic thrombocytopenic purpura which resolved following plasmapheresis. Her ESR was persistently normal. Renal functions were stable during hospital stay, so were the liver profile. Chest radiography revealed evidence of bilateral mild pleural effusions and echocardiography revealed a thin rim of pericardial effusion and good cardiac function. MRI, MRA brain showed evidence of Posterior Reversible Encephalopathy Syndrome. Repeat imaging showed resolved changes.\nA punch biopsy of the skin was done from the lesion and sent for fungal studies and histopathological studies. The direct microscopy examination revealed wide and irregular ribbon-like nonseptate hyphae with right-angle branching suggestive for Mucormycete fungi. Culture was done on Sabouraud dextrose agar with chloramphenicol (at 26°C and 37°C) yielded a white aerial mold, which covered the entire surface of the agar and came up to the lid of the culture bottles after 4 days of incubation (Figure ).\nThe lactophenol cotton blue mount of the growth revealed broad, nonseptate hyaline sterile hyphae. The slide culture test has been attempted with the hope of sporulation, however it was not successful. They only resulted in broad, nonseptate hyaline sterile hyphae without spores. Then the isolate was subcultured on to potato dextrose agar (PDA) and Rose Bengal (RB) agar for induction of sporulation. However, they yielded only sterile mycelia.\nThe isolate was inoculated on nutritionally deficient medium, tap water agar and incubated for 14 days at 37°C. It provided a hazy view of flask shaped sporangium with rhizoids in lactophenol cotton blue mount. Then floating agar method was used and it yielded characteristic flask-shaped sporangium in short sporangeophore with rhizoids after 10 days of incubation (Figure ).The sporangia had a long neck and the apex of the neck closed with a mucilaginous plug. The sporangiospores were cylindrical, with rounded ends. Those morphological features were suggestive for S. vasiformis and the isolate was identified as S. vasiformis.\nThe histopathology of the punch biopsy of the skin also reveled broad aseptate hyphae suggestive of Mucormycetes group of fungi.\nBased on the histopathological evidence of broad aseptate hyphae, suggestive of Mucormycete fungi, the patient was started on IV amphotericin B deoxycholate. Repeated surgical debridement was done and samples were sent for fungal studies. However, local application of antifungals was not included in the management. Her second tissue biopsy, which was taken during debridement after 5 days of IV amphotericin B also had similar direct microscopy findings and yielded S. vasiformis. However third tissue sample which was obtained after 10 days after IV amphotericine B deoxycholate became negative for fungal studies. Following the confirmation of sterile cultures from the subcutaneous biopsies, superficial skin grafting was done which was completely accepted from the wound site. She was treated with intravenous conventional amphotericin B for 28 days and she was asymptomatic when she was discharged from the ward. |
This is a case of 77-year-old male patient who presented for lower limbs edema and abdominal pain with diarrhea of 1-month duration.\nThe patient was an ex-smoker and nonalcoholic. His past surgical history included cholecystectomy and prostatectomy. His medical history was significant for hypertension controlled on Bisoprolol and Irbesartan, dyslipidemia treated with Atorvastatin, and a transient cerebral ischemic attack 5 months prior to presentation for which he was put on aspirin and clopidogrel. At that time, he was incidentally found to have peripheral eosinophilia of 1050 eos/mm3 (13.7% of total leukocytes) without going into further investigations. As family history, he had a brother diagnosed with Non-Hodgkin Lymphoma who died few months earlier after a prolonged hospitalization for unexplained dyspnea, attributed later on to a Strongyloides stercoralis infection detected in his bronchoalveolar lavage only one day before his death.\nHis history went back to 3 months prior to presentation when he was admitted to another hospital for dyspnea, cough, and high grade fever that started few days after inadvertent inhalation of pesticides while working in his garden. CT chest was done and showed bilateral patchy interstitial infiltrates suspicious of allergic pneumonitis (). Bronchoscopy was also done and showed normal bronchial mucosa. Bronchoalveolar lavage (BAL) analysis showed an inflammatory smear and the culture detected few Alcaligenes spp. Blood culture was negative. So patient was considered having pulmonary infection on top of allergic pneumonitis and was discharged home on levofloxacin and prednisone 1 mg/kg for 1 week to be tapered down over 3 weeks thereafter. Although his dyspnea and chest infiltrates were improving during steroids tapering, our patient developed severe diffuse pruritic skin rash that persisted for about 10 days and he started experiencing a progressively increasing epigastric discomfort associated with diarrhea. In addition, he noted an increasing bilateral lower limbs edema. After stopping steroids, his skin rash disappeared but without improvement of other symptoms.\nHis diarrhea was watery and nonmucoid accompanied sometimes by fine streaks of blood and having a variable frequency between 1 and 7 episodes per day. It was associated with moderate to severe left lower quadrant abdominal pain not related to food, as well as epigastric pain and many episodes of postprandial vomiting. He also reported a decreased PO intake and a significant weight loss of 12 kg over the last 2 months. His lower limbs edema was progressively increasing, even after stopping steroids. He had no significant dyspnea or cough and no urinary symptoms.\nOn physical examination, the patient's heart rate was 80 beats per minute, blood pressure was 110/70 mmHg, and temperature was 37°C. He was looking ill without scleral icterus or palpable cervical lymph nodes. His chest auscultation was unremarkable. His abdomen was soft with moderate epigastric and left lower quadrant tenderness and normal bowel sounds. Lower limbs examination showed severe 4+ pitting edema extending from the ankles till the knees. There were no skin rashes and the neurological exam was unremarkable.\nInitial tests showed a white blood cell count of 8200 per mm3 with 14% eosinophils, hemoglobin around 10 g/dL, MCV around 84 fL, creatinine level around 2 mg/dL, and sodium level of 127 meq/L, total serum proteins were 4.5 g/dL with albumin of 1.8 g/dL, liver enzymes were normal, and International Normalized Ratio (INR) was slightly prolonged (1.5). Direct fecal examination was done once and showed no parasites. Stools culture turned out to be negative. Chest X-ray was within normal limits. Twenty-four-hour urine collection revealed only 180 mg of proteins.\nIn view of his unexplained eosinophilia associated with diarrhea and abdominal pain, together with his history of dyspnea and skin rash that flared up while on steroids and his brother's history of strongyloidiasis, we strongly suspected an underlying strongyloides infection. Thus, we requested strongyloides serology test and upper and lower endoscopies. Upper endoscopy showed severe edematous bulboduodenitis with areas of erosions and whitish villi (Figures and ) and lower endoscopy showed multiple patchy erythematous lesions separated by areas of normal mucosa that appeared all over the colon, predominantly in the cecum, and in the ileum (Figures and ). Duodenal biopsy showed severe erosive duodenitis with eosinophilic infiltration and strongyloides larvae (Figures and ). Colonic and ileal biopsies showed severe eosinophilic inflammatory changes without parasitic detection. Serology test showed antistrongyloides antibody titer of 4.5 (normal <1.2). So patient was diagnosed to have strongyloidiasis.\nIvermectin was started at a dose of 200 mcg/kg/day. Patient's diarrhea and abdominal pain disappeared within 3 days. However, patient was still having high eosinophil count after 1 week. Since then, we extended Ivermectin course to 2 weeks until disappearance of eosinophilia. Stool test was obtained 2 weeks after initiating treatment and turned out to be negative. Albumin level was progressively increasing to 3.1 g/dL in about 1 month. |
In May, 2015, a 61-year-old right-handed woman presented at our clinic complaining of dull right posterior pain and intermittent radiating pain from the shoulder to the anterior aspect of the upper extremity with a 3-year history. She often performed repetitive tasks in the overhead position as an orchard farmer. She complained of difficulty in performing work because of the loss of muscle strength in her right upper limb while working for a prolonged time in the overhead position 6 months prior to visiting our clinic. She was diagnosed as having impingement syndrome at another clinic and was treated with physical therapy, medication, and steroid injection. However, no improvement of the symptom occurred. The patient had no trauma history or evidence of systemic diseases. The range of motion in the involved right shoulder was 180° of active forward flexion, 50° of external rotation, and T7-level internal rotation at the back. The range of motion in the uninvolved left shoulder was 180°, 85°, and T7 level, respectively. The impingement signs I and II were positive, but no signs of instability were found. The Obrien test was positive but other rotator cuff tests were negative.\nPlain radiography of the right shoulder showed a radiolucent, elliptical-shaped lesion with a well-defined margins and sclerosis of the surrounding bone (Fig. ). Cervical spine plain radiographs did not show abnormal findings. Computed tomography of the right glenoid revealed a cystic lesion with sclerotic margins measuring 25 × 20 × 20 mm in diameter in the posterosuperior border of the glenoid, but with no communication between the cyst and the glenohumeral joint (Fig. ). Magnetic resonance imaging (MRI) of the lesion demonstrated a low signal intensity on T1-weighted spine-echo images and a high signal intensity on T2-weighted spine-echo images within and around the scapular neck. The cystic lesion within the scapular neck was a multilobular lesion and protruded into the spinoglenoid notch. The suprascapular nerve was compressed by the lesion through a cortical defect in the posterosuperior area of the glenoid (Fig. ). The EMG study confirmed compression of the suprascapular nerve with reduced recruitment in supraspinatus and infraspinatrus muscles (Fig. ).\nWe decided on surgical treatment based on clinical symptoms and radiologic findings. First, with the patient under general anesthesia in the lateral decubitus position, diagnostic arthroscopy of the glenohumeral joint was performed. Severe degenerative tearing of biceps tendon was observed in the intertubercular groove portion. Meanwhile, the biceps tendon showed fraying and degeneration of the free edge of the superior labrum without detachment of the biceps anchor from the superior glenoid tubercle upon probing, hence only biceps tenotomy was performed. The glenoid cartilage and capsule in the vicinity of the affected area showed no abnormal findings. As for the intraosseous ganglion, it was considered impossible to approach from the joint and to completely decompress because it was multiply lobulated in the scapular neck. Thus, surgical exploration of the infraspinatus fossa was performed by an incision inferior to the spine of the scapular with partial detachment of the deltoid. Gentle approach through the fibers between the infraspinatus and teres minor muscle revealed a large cyst. The cyst compressed the suprascapular nerve and artery with adhesion in the spinoglenoid notch (Fig. A). Cystic lesion of 2.5 × 2.0 × 2.0 cm was removed after gentle detachment and release of the ligament (Fig. B). Histological examination revealed an intraosseous ganglion with myxoid change in the wall of the cyst (Fig. C). The infraspinatus fossa dull pain subsided immediately after surgery. No recurrence of the cystic lesion was noted on follow-up plain radiograph and MRI performed 18 months postoperatively (Fig. ). The patient was pain-free during her work activities. Shoulder external rotation strength was graded as 5 of 5. |
This is a case of a 25 years old Malay girl with learning disability and no significant past medical history, who started noticing a sacral mass since August 2015. The mass was painless and gradually increasing in size. The family members of this patient brought her to a traditional healer. They did not seek any medical treatment until late 2017. By this time, the mass over the sacrum was extremely large. Family members claimed the mass was preventing the patient from lying down flat supine. The patient was also unable to ambulate for the past 2 years. Hence, she was bedbound most of the time. It was difficult for her to sit on the wheelchair. She also felt tired to move because the mass was quite heavy. The family members claimed when the patient was lying down flat, she had to flex her hips and knees to achieve a more comfortable position. In addition, she often slept either in prone position or in supine with multiple pillows below her body. The mother also claimed over the last 2 months, the patient’s body had been getting thinner despite her physical weight was increasing due to the increase in size of the sacral mass. The patient had been passing stool and urine in pampers. There was no past medical history and no family history of cancer. Socially, the patient lived with her mother and siblings. The mother was the main care taker. Her father passed away 10 years ago because of heart attack. The patient previously attended a special needs school, but she stopped going to school since 2015 after developing the sacral mass.\nThis patient was managed in the Southern Region referral centre for Orthopaedic Oncology in Malaysia. On clinical examination in the Orthopaedic Oncology ward, the patient appeared cachexic, she had slightly pale conjunctiva, but she was not dysmorphic. Vital signs were Blood Pressure 142/90, Pulse Rate 98 beats per minute and Temperature 37 degrees Celsius. There was a large mass 40 cm × 30 cm × 20 cm over the sacrum. The mass was firm to hard in consistency and involved both buttocks and the gluteal fold (Fig. ). Dilated veins were noted under the skin overlying the sacral mass. Neurological exam of bilateral lower limb was normal. However, there was generalized wasting of all muscles over the bilateral lower limb. Anal tone was intact.\nLaboratory investigations taken were unremarkable. Computed Tomography of the Pelvis showed a large destructive sacrococcygeal mass measuring 43 cm × 38 cm × 27 cm with extension into the presacral space resulting in anterior displacement of the rectum, urinary bladder and uterus and posterior extension into the dorsal soft tissue with involvement of the gluteus, piriformis, and left erector spinae muscles (Figs. and ). Superior margin of the sacral bone involvement was up to S2. The mass was predominantly of fluid density with internal enhancing septation and calcifications which suggested primary chordoma more likely (Figs. and ). Magnetic Resonance Imaging done showed similar findings. Skeletal Survey Radiograph did not show any distant metastasis. A Trucut biopsy of the mass was done. Histopathological analysis showed tumour cells with “physaliphorous cells” positive for pancytokeratin, EMA, Vimentin and S-100 immunohistochemistry stainings with minimal mitotic figures and mild nuclear pleomorphism (Fig. ). Brachyury immunohistochemistry staining was not available in our centre. However, the clinical history, morphology of tumour on microscopy and immunohistochemistry staining available were consistent sacral chordoma.\nThe diagnosis of Sacral Chordoma was confirmed. Multidisciplinary team discussion done among Orthopaedic Oncology, General Surgery, Obstetrics and Gynaecology, Blood Bank, Anaesthetic and Plastic Surgery teams. A family conference was done. The family’s aim was for removal of the sacral mass to allow the patient lie supine on bed and sit on the wheelchair.\nSubsequently, the patient undergone Wide Resection and En Bloc Sacrectomy. The Posterior-Only Approach was used with a “Mercedes Star” 3 limbed incision. Duration of surgery was 8 h. The patient was supported with blood products transfusion during surgery. Intraoperatively, the sacral tumour had eroded the sacral bone from S2 to S5 (Figs. , and ). Sacrectomy was done at the level of S2. Sacral nerve roots S2-S5 were all infiltrated by the mass and therefore were unable to be preserved. The mass and surrounding gluteal muscles invaded by the tumour were also all resected. All resection margins were less than 1 mm from the tumour. Primary closure was done without any distant or local flap as per consultation with Plastic Surgery team. The tumour weight was 25 kg (Figs. , and ). Post operatively, the patient was monitored in Intensive Care Unit for 3 days. The patient developed neurogenic bowel and bladder post sacrectomy requiring enema and long-term urinary catheter. In addition, the post-operative course was complicated by wound breakdown and surgical site infection requiring wound debridement. Dressing was done as per local protocol until wound bed granulating well. Split Skin Graft was done about 3 months post wide resection once the tissue culture results were free of significant infection.\nThe patient also required extensive rehabilitation for transfer, ambulation and bowel and bladder care. Rehabilitation was difficult because the patient had learning disability and she had been habitually keeping her hips and knees flexed because of the sacral tumour for the past 2 years. During the last review 5 months post operatively, patient was able to sit on the wheelchair comfortably. The surgical wound was healing well with good uptake of the Split Skin Graft (Fig. ). |
A 73-year-old female patient visited the hospital due to left-sided hemiparesis. She did not have a family history of stroke and had been taking antihypertensive medication for the past 10 years and angina medication for the past 6 years. She had a chronic headache for past few years. She had frequent headache with nausea or vomiting on 15 days per month. A neurological examination was conducted, and left hemiparesis, paresthesia, and dysarthria were found (Fig. ). The muscle power of the left upper and lower limbs was Medical Research Council (MRC) grade III and the brain diffusion-weighted MRI (diffusion weighted image [DWI]) showed a right lenticulostriate artery territorial infarction. Obstruction and stenosis of the main vessel were not observed. Multiple CMBs were found in the bilateral deep gray matter and pons on GRE MRI (Fig. A). Transthoracic echocardiography was normal. Cilostazol 50 mg twice daily was administered for secondary prevention of stroke in consideration of the multiple CMBs. The muscle power of the patient's left upper and lower limbs improved to MRC grade IV on the 7th day of hospitalization so she was discharged. Outpatient follow-up examination found that the muscle power of patient's left upper and lower limbs improved to MRC grade V 1 month after discharge. However, her hypertension was not controlled. Therefore, the dose of existing hypertension medication was increased and the follow-up examination found that her blood pressure was well controlled afterward.\nThe patient presented with numbness in the left upper limb 6 months after discharge, and DWI and GRE brain MRI were performed. The newly taken DWI and GRE brain MRI were not different from previous images (Fig. B). Eight months after discharge, the patient experienced acute left hemiparesis and paresthesia with headache and she visited the emergency room within 1 hour of its onset. Neurological examination revealed that the muscle strength of the left upper and lower limbs was decreased to MRC grade IV. The blood pressure of the patient was 200/110 mm Hg when she visited the emergency room and electrocardiography did not show any abnormal findings except sinus bradycardia. The blood test was normal. The recurrence of cerebral infarction was suspected so brain MRI and DWI were performed but an acute infarction was not found. However, a new microbleed was observed in addition to previous CMBs in the right thalamus on the GRE sequence (Fig. C). The muscle power of the patient's left upper and lower limbs improved to MRC grade V from the 2nd day after admission and the patient was discharged 3 days later. After admission, the patient's blood pressure was not well controlled and she complained of headache. Therefore, the dose of previous hypertension medication was adjusted again, and the blood pressure was well controlled afterward. Outpatient follow-up found that the left paresthesia improved to normal, as well improvements with headache.\nTwo months after the occurrence of the new CMBs, the patient experience left-sided paresthesia and visited the emergency room within 2 hours of its occurrence. Neurological examination was performed on presentation and found that the muscle power of the left upper and lower limbs was normal (MRC grade V) but paresthesia, which was previously improved, and headache occurred again. Her blood pressure was 210/110 mm Hg on admission and electrocardiography and blood test results were normal. Laboratory studies and abdominal ultrasonography for evaluation of secondary hypertension were normal. Brain MRI was obtained again to confirm the recurrence of cerebral infarction. No new lesions were seen on DWI. However, it was confirmed that another new microbleed had occurred, in addition to the 2 existing CMBs in the right thalamus on GRE MRI (Fig. D). After admission, her blood pressure was too high and the dose of hypertension medication had to be adjusted again. The blood pressure was well maintained afterward. The patient's paresthesia and headache improved from the next day, and the patient was discharged 5 days later. The left-sided paresthesia began to improve from the 2nd week after discharge and she has been treated as an outpatient without recurrence of neurological symptoms. Patient was followed up for 12 months at the outpatient clinic. Blood pressure was well controlled and there was no abnormal neurological symptoms. |
A 17-year-old female patient visited the Department of Oral Medicine and Radiology with a complaint of swelling in the lower jaw that had begun 5-6 months earlier. The lesion had progressively increased in size and been painful beginning two months earlier. There was no anesthesia or paresthesia of the lower lip, chin, or jaw, and there was no history of trauma.\nOn extraoral examination, the swelling in the mandibular anterior region measured about 8 cm×5 cm extending about 4 cm from the midline bilaterally (). Superoinferiorly, it extended from the lower lip to the lower border of the mandible. The skin over the swelling and the surrounding area appeared normal and the margins were diffuse. On palpation, there was no local rise in temperature, but the swelling was tender, especially in the anterior region. Intraoral examination revealed swelling 7 cm×5 cm obliterating the buccal and lingual vestibule extending bilaterally to the buccal sulcus of the first permanent left mandibular molar and first permanent right mandibular molar and measuring about 3.5 cm from the midline bilaterally (). The expansion of the lingual cortex in the midline region was remarkable. The swelling was bony hard in consistency. The crowns of the mandibular anterior teeth were tipped mesially. The left lateral incisor, right central incisor, and right lateral incisor were grade 2 mobile. Grade 1 mobility was present in the permanent first molar in the left mandibular region and the permanent central incisor in the left mandibular region was clinically missing. The teeth were nontender on percussion. The teeth associated with the swelling - the incisors, canines, premolars and first molars of the left and right side of the mandible - gave a negative response to a vitality test. Since the expansile lesion with clinically aggressive behavior was associated with a missing tooth, a working diagnosis of ameloblastoma was considered. Other odontogenic cysts and tumors including dentigerous cyst and odontogenic keratocyst were considered in the differential diagnosis.\nThe patient was subjected to radiographic examination including panoramic and intraoral radiographs. The panoramic radiograph revealed a large radiolucent lesion of the mandible extending from the roots of the permanent first molar in the right mandibular region to the permanent first molar in the left mandibular region with well-defined corticated borders (). The lesion was associated with an impacted permanent central incisor in the left mandibular region, which appeared to be displaced towards the inferior cortex of the mandible. A few radiopaque flecks of about 1-2 mm were noted. The roots of the premolars and molars in the right and left mandibular region showed resorption and all the roots of teeth associated with the lesion showed loss of the lamina dura and widening of the periodontal ligament space. The roots were tipped distally. The lower border of the cortex showed endosteal resorption. The mandibular occlusal radiograph revealed a striking cortical expansion, especially that of the lingual cortex with dense septae in the lingual region giving a multilocular appearance (). Several radiopaque foci of about 1-2 mm were seen scattered, which were less evident in the panoramic radiograph. Cortical thinning and resorption were evident.\nThe patient was further subjected to a computed tomography (CT) examination, which demonstrated a large expansile radiolucent lesion with multiple flecks of calcification of varying sizes, which were predominantly peripherally distributed and impacted the permanent central incisor (). The remarkable lingual and buccal expansion, perforation of the lingual cortex, and dense septae in the lingual region were evident in the CT. The soft tissue density at the periphery suggestive of a capsule was also appreciable (). The dimensions of the lesion measured 5.82 cm×3.28 cm×3.25 cm (). A multiplanar three-dimensional reconstructed image showed a multilocular appearance with thick lingual septae and the position of the impacted tooth ().\nA radiographic diagnosis of adenomatoid odontogenic tumor (AOT) was arrived at considering the multiple scattered radiopaque flecks in the lesion associated with an unerupted impacted tooth and a soft tissue capsule. However, a multilocular appearance and large size in an AOT is unusual. Hence, a differential diagnosis of other multilocular mixed lesions such as calcifying odontogenic cyst and calcifying epithelial odontogenic tumor was also considered.\nThe lesion was surgically enucleated. Macroscopically, the mass was well encapsulated with cystic areas along with an embedded permanent mandibular central incisor in the tumor mass. Histopathological examination revealed sheets, ducts, and whorls of darkly staining ovoid to round epithelial cells suggestive of odontogenic epithelial cells (). The duct-like structures were lined by columnar cells. A few basophilic calcifications were also observed. Small cystic areas containing degenerated cell debris were noted in the focal areas. The supporting connective tissue stroma was loose and less cellular in nature. Based on these findings, a histopathologic diagnosis of adenomatoid odontogenic tumor was made.\nThe patient was under follow-up and had not shown any signs of recurrence six months after surgery (). |
A 14-year-old male presented to the emergency department with complaint of left lower extremity pain for 5 days. The pain was localized to the left thigh, worsening over time despite analgesic intake. Patient also complained of swelling of the thigh, difficulty in ambulation for 2 days, and numbness for 1 day. There was no history of trauma, recent surgery, medication use, or prolonged immobilization. There was no family history of clotting or bleeding disorder or venous thromboembolism. He denies any history of smoking or illicit drug use.\nPatient is a known case of type 1 diabetes mellitus diagnosed at age of 10 years, currently on insulin pump. He was diagnosed with hypertension at age 9 and is on enalapril. He was born in Jamaica, via normal spontaneous vaginal delivery at term and had shoulder dystocia at birth for which he stayed in the hospital for 10 days. A sling was applied and no other intervention was done. Patient's mother denied any other complications at birth.\nOn examination he was noted to have marked asymmetry between the two lower extremities. There was tense swelling of the left posterior thigh and the left calf, which was tender to palpation. No erythema, warmth, varicose veins, or ulcers were present. Peripheral pulses were palpable and equal bilaterally with normal neurological exam.\nHis initial laboratory results in the emergency room showed normal complete blood count, basic metabolic panel, prothrombin time, and activated partial thromboplastin time. A lower extremity ultrasound showed the left common femoral, left superficial femoral, and left popliteal vein were noncompressible and demonstrated no vascular flow, with intraluminal echogenic thrombus suggestive of deep vein thrombosis of the left lower extremity ().\nHe was admitted to the pediatric floor and started on low molecular weight (LMW) heparin and warfarin after hematology consultation. His chest X-ray was normal. A thrombophilia workup was done which showed no prothrombin gene mutation, normal levels of Factor V Leiden, antithrombin III, and protein S. Protein C was low 51.9 (normal 55–123 units IU/dL). Low protein C in the setting of a large DVT was attributed to consumption of coagulation factors. LDH, uric acid, and homocysteine level were normal. Anticardiolipin and lupus anticoagulant were normal.\nA CT of the abdomen and pelvis was done to determine the extent of the thrombosis in the pelvis. The CT showed the suprarenal IVC and the hepatic segments of the IVC were patent. There was absence of infrarenal IVC (). There was an anomalous course of the external iliac veins communicating with lumbar veins. There was heterogeneous material within the left common femoral vein and left external iliac vein and hypodensity within the left lumbar vein consistent with thrombus (). There were prominent azygous and hemiazygous veins. The left kidney was small in size and there was compensatory hypertrophy of the right kidney (). The renal veins were not thrombosed and the origin of the left renal vein was normal in caliber. There was calcification of the right adrenal gland noted consistent with prior adrenal hemorrhage, the etiology of which could not be ascertained.\nOn review of patients past medical records it was noted that as a workup of hypertension he had a CT angiogram done which demonstrated atrophic left kidney supplied by two hypoplastic renal arteries arising from the abdominal aorta. The origin of the more inferior renal artery had a short segment of stenosis (). The right kidney was normal. A DMSA renal scan done subsequently demonstrated left renal uptake of approximately 13% and right renal uptake of approximately 87%.\nThe patient was continued on low molecular weight (LMW) heparin until his international normalized ratio (INR) reached more than 2. His pain and stiffness improved and he was discharged on oral warfarin therapy. Patient and mother were made aware that he may need lifelong anticoagulation therapy. In view of the fact that the patient had venous and arterial anomalies, prior to discharge the patient received a brain MRA/MRV to look for any other vascular anomalies, which were normal. A genetic evaluation was also normal. The patient is being followed by hematology team for venous thrombosis as an outpatient and is on oral warfarin therapy with therapeutic INR. |
A 72-year-old female with a medical history of AS, diabetes mellitus type 2, chronic kidney disease stage 3, gout, colon cancer treated with resection and colostomy bag placement 18 years prior, hyperlipidemia, hypertension, and morbid obesity presented with GI bleeding evidenced by black tarry stool in her colostomy bag for 7 days. Associated symptoms included fatigue, nausea, and decreased appetite. The patient reported no vomiting, abdominal distension, or abdominal pain. She had not recently taken any nonsteroidal antiinflammatory drugs. Echocardiography 1 month prior to presentation showed aortic valve area of 1.24 cm2, aortic valve mean gradient of 39 mmHg, and aortic orifice peak velocity of 4.11 m/s, indicative of moderate to severe AS.\nThe patient was initially seen at a regional hospital where her hemoglobin (Hgb) level was as low as 6.0 g/dL. During her stay at the regional hospital, she underwent push enteroscopy, colonoscopy, tagged red blood cell (RBC) scan, and angiography. The RBC scan showed delayed images for tracer accumulation in the right colon/terminal ileum. She was transfused 2 units of packed RBCs on day 4 of hospitalization and 3 units of packed RBCs on day 6. She was transferred to our tertiary care center on day 7 of hospitalization.\nOn arrival at our hospital, the patient's vital signs were within normal limits. She was alert and oriented. Her colostomy bag was located on the right lower quadrant of the abdomen and contained black tarry stool. Erythema was visible around the colostomy site. She had an existing colectomy midline wound with a linear bandage beginning below the xiphoid process and crossing the umbilicus. Other significant abdominal findings included abdominal distension and tenderness at the periumbilical and hypogastric region on deep palpation. A large hernia protruded from the pelvic region. Cardiovascular examination was significant for systolic ejection murmur, III/VI in intensity on the Levine scale, in the aortopulmonary area. Eye examination revealed conjunctival pallor.\nOn admission, the patient's laboratory results were significant for Hgb of 8.3 g/dL and a platelet count of 96 platelets/μL. Video capsule endoscopy showed blood in her proximal small bowel, and double-balloon enteroscopy (DBE) showed jejunal angiodysplasia that was treated with argon plasma coagulation. Repeat DBE on day 3 of hospitalization at our facility showed another small jejunal angiodysplasia that was also treated with argon plasma coagulation. Her Hgb remained stable during admission. She was discharged after 3 days of hospitalization with home health to resume wound care for her abdominal wound.\nThe patient continued to have dark stools after discharge. She was readmitted to the regional hospital 10 days after discharge. Repeat complete blood count showed Hgb of 6.2 g/dL. She was transferred back to our hospital the next day after being transfused another 2 units of packed RBCs. Repeat DBE showed a 1-mm focus of active bleeding in the proximal jejunum consistent with a Dieulafoy lesion ().\nThe lesion was treated with argon plasma at 1 L/min and 25 watts. Two homeostatic clips were placed to prevent further bleeding. India ink 0.3 mL was injected to tattoo the area. The patient's Hgb remained stable at 7.9 g/dL during the postoperative observation period. After 2 days, she was discharged home. At follow-up 1 year later, she reported no GI bleeding symptoms since discharge. |
A 43-year old female (gravida 3, para 1) presented to an outside hospital with pelvic pain and vaginal bleeding in December 2012, for which she was admitted to the emergency room; following a physical examination and CT scan of the pelvis, a 20 × 10 × 15 cm pelvic mass was identified. The lesion was compressing the rectum, bladder and left ureter, which caused severe, ipsilateral hydronephrosis. The patient's medical history was significant for a supracervical hysterectomy in 2008 to address uterine fibroids; her most recent Pap smear and pelvic exam, both of which were negative for malignancy, coincided with the aforesaid hysterectomy.\nIn January 2013, the patient underwent an exploratory laparotomy, biopsy and lysis of adhesions, which revealed a 10 × 8 cm necrotic, vaginal mass with a 5 × 5 cm pedicle at the vaginal apex. Subsequently, the mass and lysis of adhesions were biopsied. Abdominally, she had a 10 × 15 cm solid mass posterior to the bladder, normal-appearing right tube and ovary; there was a large amount of omental adhesions, which were lysed. The patient received 2 units of blood prior to the surgery and received an additional 2 L of blood intra-operatively; ultimately, she tolerated the procedure well.\nPathology of the pelvic mass revealed a hypercellular lesion without significant mitotic activity, atypia or necrosis, consistent with a cellular leiomyoma. The vaginal mass was composed predominantly of non-viable/necrotic tissue and only focal viable atypical tissue was available for evaluation (a); albeit suspicious for malignancy, given the scant nature of the atypical focus (b), a definitive diagnosis of malignancy could not be rendered at that time. Consequently, in lieu of a re-biopsy, the oncology team opted for complete removal of the disease.\nThe patient continued to suffer from intractable vaginal bleeding and thus, she underwent an abdominal aortogram, selective bilateral internal iliac arteriography and embolization of the pelvic mass in January 2013. Selective left hypogastric branch vessels demonstrated significant tumor vascularity; they were catheterized and then embolized, which effectuated a substantial reduction of tumor flow. Moreover, super selective injection of one branch demonstrated active arterial extravasation; this was successfully resolved following coil embolization.\nA follow-up CT of the chest, abdomen and pelvis revealed a large thrombus in the inferior vena cava (IVC) and left iliac veins, which extended into the right atrium (); there was also evidence of enhancement, indicative of tumor thrombus or benign metastasizing leiomyomatosis. In consideration of the lesion's presence in the right atrium, cardiovascular surgery consultation was emergently recommended and an ensuing transthoracic echocardiogram was performed ().\nInterestingly, the patient's medical history was negative for any cardiac or thoracic symptomatology. She also denied any specific knowledge of having a myocardial infarction, dysrhythmias, palpitations, or cardiac murmurs. Nonetheless, the patient reported increased dyspnea in the few months preceding her hospitalization; her sitting blood pressure was 132/92 mm Hg and pulse rate was 133 beats/min.\nIn February 2013, the patient was admitted to the emergency room due to asthenia, vertigo and a urinary tract infection; she also reported moderate bleeding. The patient was febrile at 102 °F; her hematocrit was 29% and creatinine was 1.2 mg/dL. The patient was administered antibiotic therapy and transfused with 2 units of packed red blood cells to ameliorate her symptoms.\nIntra-cardiac leiomyosarcomatosis is an extremely complex and precarious condition and thus, the patient's management necessitated a multidisciplinary, formulated approach; this involved substantive pre-operative discussion among the cardiovascular, vascular, and gynecologic oncology surgeons. Since significant patient blood loss was anticipated, a comprehensive transfusion protocol was thereby instituted. Moreover, the operating room was reserved for the entire day to accommodate this multifaceted surgical procedure.\nInitially, the patient underwent cardiovascular surgery, comprising a sternotomy via a combination of central and peripheral cannulation in the right common femoral vein, extending up to the common iliac artery. The heart was arrested; cardioplegia was administered at 30-minute intervals and hypothermic circulatory arrest was performed after the head was packed in ice. Simultaneously, a right atriotomy was performed with removal of the right ventricular and atrial components of the mass; there was no tumor identified in the ventricle and/or coronary sinus.\nThe tumor was removed en bloc approximately 2 cm into the IVC; however, the mass was friable and had to be removed in discrete sections (Fig. 4), indicative of a malignant process. A Foley catheter was used as a Fogarty arterial embolectomy catheter into the IVC, of which successive passes were negative for evidence of tumor or thrombus. The right atrium was closed with 5-0 Prolene suture in a running technique; the IVC was closed and cardiopulmonary bypass was reinstituted; the aortic crossclamp was removed, allowing for cardiac resuscitation.\nThe tumor was removed en bloc approximately 2 cm into the IVC; however, the mass was friable and had to be removed in discrete sections (Fig. 4), indicative of a malignant process. A Foley catheter was used as a Fogarty arterial embolectomy catheter into the IVC, of which successive passes were negative for evidence of tumor or thrombus. The right atrium was closed with 5-0 Prolene suture in a running technique; the IVC was closed and cardiopulmonary bypass was reinstituted; the aortic crossclamp was removed, allowing for cardiac resuscitation.\nVascular surgery consultation was then indicated; thereafter, a vena cava thrombectomy, right common iliac tumor thrombectomy and left common and external iliac tumor thrombectomy were planned. Total circulatory arrest was necessary to extract the tumor from the patient's ventricle and IVC. The neoplasm's removal from the iliac system occurred in 2 stages. During total circulatory arrest, the heart and vena cava were opened. The tumor was extracted; similar to the cardiovascular surgery, the mass was incohesive and thus, removed in distinct segments; estimated blood loss was approximately 4 L.\nThe final operative component encompassed gynecologic oncology surgery. Initially, the retroperitoneum on the right side was entered. Once the vagina was identified, the posterior region was divided, entered and the rectovaginal space was developed. An ovarian cyst was visualized and subsequently removed using blunt dissection; the bladder and ureters were both mobilized. Accordingly, the pelvic mass was completely mobilized.\nOnce the lesion was completely unencumbered, the neoplasm was extracted from the pelvis. Hemostasis was appreciated although there was large volume blood loss (10 L), necessitating a massive transfusion. The patient received 34 units of packed red blood cells, 30 units of cryoprecipitate, 8 units of fresh frozen plaza, 7 units of platelets and one dose of Recombinant Factor VIIa. When the procedure was concluded, she was taken to the Cardiovascular Intensive Care Unit in stable condition.\nDespite the initial pre-operative pathology results (i.e., a cellular leiomyoma), additional evaluation of the patient's gynecologic and vascular specimens revealed a high grade leiomyosarcoma of uterine origin. At the conclusion of surgery, the patient did well; she did not suffer from any significant complications and fulfilled all appropriate recovery criteria prior to discharge, which occurred on postoperative day 18. Consequently, she began six cycles of gemcitabine (1000 mg/m2) and docetaxel (75 mg/m2) chemotherapy. |
The patient was a 42-year-old woman. She had suffered from migraine and tension-type headaches since her twenties. The migraine headache was described as pulsatile, bilateral, and on the forehead, persisting from a few hours to half a day. It occurred seven to eight times a month irrespective of menstruation and was accompanied by aura (partial deficit of the left visual field lasted approximately 10 minutes), light sensitivity, and nausea. She took oral loxoprofen 60 mg to treat the headache, on average, <15 days a month, which did not meet the standard of mediation-overuse headache. The tension-type headache was followed by muscle stiffness from the shoulders to the neck and was exacerbated by fatigue. The frequency of pain attacks was one per week. The duration was 1 or 2 days. The headache was bilaterally located, of pressing quality, was not aggravated by walking, not associated with nausea and photophobia.\nEight days before admission, the patient had engaged in farm work. During this work, she reported that grass fragments had entered her right eye while operating a mower. She experienced strong pain and a foreign body sensation but stated that there had been no bleeding or inflammation. The next morning, she reported general malaise and a persistent pulsatile headache on both sides of her forehead, accompanied by a fever of 38.5°C by the evening. The headache was accompanied by nausea and occasional vomiting; it was aggravated by turning her face downward and was not associated with photophobia and phonophobia. The effect of loxoprofen was inadequate and lasted only a few hours. The symptoms gradually worsened over the following 3 days, and the nature of the headache changed to a pain that tightened around the whole head. Nausea appeared in addition to the headache, so she presented to a nearby clinic. Head computed tomography was performed and showed no evidence of cerebral hemorrhage. She was discharged with reassurance; however, her headache gradually worsened and she consulted the clinic again 2 days later and was referred to our hospital with suspected meningitis.\nNeurological examination, laboratory data from blood and spinal fluid (Table ), and contrast-enhanced head magnetic resonance imaging (Figure A) showed neither meningitis nor any other abnormality that could explain the headache. The serum antibody of tsutsugamushi disease, which is a kind of Lyme disease, was negative. Systemic reactions including BHL, serum Ca high values, which suggest sarcoidosis, were negative. Head computed tomography (Figure B) and computed tomography angiography (Figure C) also revealed no cerebral hemorrhage, vertebral artery dissection, or cerebral aneurysm. At this time, she described the headache as 10/10 on a numeric rating scale (NRS). Intravenous infusion of 1000 mg acetaminophen over 2 days reduced the severity of the headache to an NRS of five. Although the patient reported a considerable improvement in the headache, she stated that the mild occipital pain remained. A stinging pain was described that lasted for several minutes and was mixed with a constant and background occipital pain. We considered occipital neuralgia at this point and started treatment with 400 mg of oral carbamazepine, which improved the headache to an NRS of two by the following day.\nOn the fifth day of admission, the patient reported difficulty in opening her mouth. The distance between the upper and lower incisors was 5 mm. Temporomandibular joint MRI showed no abnormality and excluded temporomandibular joint disease (Figure D). Based on the history and characteristic symptom, she was diagnosed with tetanus and treatment was started with tetanus toxoid vaccine, human tetanus immunoglobulin (3000 units), and penicillin G (12 million units). By the next day, this treatment had improved the remaining headache that encircled the whole head to an NRS of 0, but an occipital headache remained.\nDuring the subsequent disease course, the patient developed various symptoms, including facial nerve paralysis, stiffness of the tongue base, photophobia, and cardiac autonomic nervous disorder (Figure ). She developed facial nerve palsy and stiffness of the tongue base the day after the appearance of trismus. The facial nerve palsy was bilateral and peripheral. Her nasolabial grooves were equal on the both sides, but the weakness of the orbicularis oculi muscle was left-side dominant, which caused leakage from the corner of her mouth when she took fluid orally. Although the stiffness of the tongue base caused a sensation of throat obstruction, she could breathe and swallow normally. She developed dysarthria due to the trismus and weakness of orbicularis oris muscle. Photophobia appeared in the order of the left to the right side, and she experienced a loss of taste.\nAlthough most symptoms began to improve with treatment, she reported palpitations under mild exertion on the 20th day. The coefficient of variation of the R-R intervals on an electrocardiogram was 1.71% at this point, indicating autonomic dysfunction, but this improved to within the normal range 1 week later (3.14%). She was followed as an outpatient, and after 7 weeks she had regained full strength of the orbicularis oris muscle and her persistent occipital pain had improved. |
A 5-year-old previously healthy, VZV unvaccinated boy presented to our emergency department with typical varicella skin lesions which had developed 2 days prior. He had a history of fever and poor oral intake. Furthermore, he complained of pain around the left thigh and was reluctant to bear weight. The child was in a mildly reduced general condition with normal heart rate, respiratory rate and blood pressure for age. He was febrile with a temperature of 39.6°C. The cardiopulmonary examination was unremarkable. Next to multiple crusted skin lesions there was a tender and discolored area (3–5 cm) on the left buttock (). The boy refused to sit or lie on his back.\nLaboratory work-up showed a white blood cell count (WBC) of 7.2 G/L, platelets of 131 G/L and a CRP of 195 mg/L. Blood cultures were drawn and intravenous Cefuroxime and Clindamycin were started for suspected bacterial soft tissue infection. Growth of GAS from the blood culture was reported with a time to positivity of 2.6 h by the microbiology laboratory. Ultrasound showed signs of soft tissue inflammation around the painful area at the buttock. On the second day of hospitalization the patient had progressively worsening pain of the left thigh. A CT scan revealed inflammation and swelling of the gluteal muscle. Urgent surgical debridement was performed and intraoperatively necrotising fasciitis was confirmed. Tissue swabs grew GAS. Although antimicrobial treatment was started promptly, GAS was still detected in the tissue samples 48 h after initiating betalactam and lincosamide antibiotics at the first debridement. Further blood cultures were not taken at this time. As there was little improvement during the following days, an MRI was performed showing multiple abscesses in the gluteal muscle but no osseous involvement. Overall the child needed two further debridements on days 3 and 4 of hospitalization with application of a vacuum assisted closure (V.A.C.) therapy. On day 5 of hospitalization the patient presented with respiratory distress and required supplementary oxygen. He was transferred to the Pediatric Intensive Care Unit (PICU). On clinical examination a new systolic murmur was heard. Echocardiography revealed mitral valve prolapse with regurgitation. Assuming an endovascular infectious complication, a further set of blood cultures was drawn (which remained sterile) and antibiotic treatment was changed empirically to Gentamycin and Ceftriaxone. Two days later the boy's general condition deteriorated further and a second echocardiography revealed progressive prolapse of the mitral valve, assuming rupture of the chordae tendineae (). X-ray of the chest revealed pulmonary infiltrations due to mitral regurgitation (). The child was intubated and transferred to a tertiary pediatric cardiac surgery center where the mitral valve was reconstructed the next day and neo-chordae were implanted. Endocarditis was confirmed intraoperatively (small proliferative inflammatory changes of the endocardial tissue) and antibiotic treatment was adjusted to intravenous amoxicillin and continued for 4 weeks. At the day of transfer to the cardiac surgery tertiary center, CRP was 32 mg/l, WBC 15.9 G/L and the child was afebrile. The last documented laboratory findings after 4 weeks of antibiotic treatment showed a CRP <4 and WBC 3.97 G/L and a blood sedimentation rate of 28 mm/h. The wound on the buttock was successfully closed 2 weeks after placement of the V.A.C. Four and a half weeks after primary admission the patient was discharged home in good clinical condition. Cardiology follow-up 1 month later revealed good biventricular function and only mild mitral regurgitation. Screening investigations for an underlying immunodeficiency (quantitative and qualitative humoral and cellular testing and HIV screen) were unremarkable. S. pyogenes M serotyping was not done by our laboratory. |
An 85-year-old Caucasian woman presented to our hospital with right flank pain 10 years ago. She had a past medical history of type 2 diabetes mellitus and essential hypertension. She denied any history of thyroid disease and neck irradiation. She had no family history of any cancer. She was a housewife and had no history of tobacco smoking or consuming alcohol. A physical examination at the time of presentation was not significant except for right costovertebral angle tenderness. Her heart rate was 96 beats per minute and blood pressure was 155/90 mmHg. The findings of laboratory tests, which were complete blood count, liver and renal function tests, and urine analysis, were within normal range and they did not help us find the etiology of her right flank pain. Abdominal screening with computed tomography (CT) revealed a mass on her right kidney, which was considered a primary renal cell carcinoma and she underwent a right nephrectomy. Unexpectedly, PTC metastasis was diagnosed from demonstrative histopathological findings, such as positive immunoperoxidase staining for thyroglobulin (Tg). After further examinations of her thyroid and neck with ultrasonography (USG), a total thyroidectomy was performed. Pathological examination of thyroid tissue revealed a 5 cm tumor with capsular invasion and a strong positive immunoperoxidase staining of cytokeratin-19, HBME-1, and galectin-3. She was diagnosed as having metastatic PTC. Orally administered levothyroxine 75 mcg daily was initiated in addition to the metformin 1000 mg twice daily and amlodipine 10 mg daily treatments she received prior to PTC diagnosis. Postoperative serum Tg was above 300 ng/ml and anti-Tg was negative. Afterward, she was screened with unenhanced thoracic CT and skeletal scintigraphy. They revealed bilateral multiple nodules in her lungs and bone metastasis on T10 vertebra and right sacroiliac joint. Initially, 30 Gy radiotherapy was implemented to her T9–10 vertebrae for 12 days. We also started treating her with L-thyroxine to keep her thyrotropin (TSH) level below 0.1 mIU/L. After 2 months, she was treated with 200 mCi RAI for ablation. A RAI whole body scan (WBS) showed extensive RAI uptake in lungs and bones. A second 200 mCi RAI was applied 8 months after the first treatment. A post-ablative WBS showed progression. Serum Tg was still above 300 ng/ml and 200 mCi RAI administration was applied for the third time. A WBS was still displaying high radioactive activities in multiple areas of her body. Because of the existence of increased uptake, we planned a fourth RAI treatment but our patient was lost to follow-up for 2 years.\nWhen she presented again in 2015, her serum Tg was above 300 ng/ml again and a fourth 200 mCi RAI WBS of our patient was done. Unexpectedly, the WBS revealed diminished RAI uptake compared with the previous ones (Fig. ). However, a neck USG showed two solid thyroid nodules at the previous thyroid area and bilateral lung metastases were identified by thoracic CT. For the next 3 years, she was lost to follow-up, again. Finally, in February 2018, she was referred to our clinic and presented with a huge hemorrhagic draining cervical mass (Fig. ). Of interest, besides this finding, she did not have any other complaints other than a little dyspnea when lying down. Summing up all previous RAI treatments, cumulative 800 mCi RAI was given to her in the past 10 years; however, a physical examination and screening findings were not yet promising at the last follow-up (Fig. ). Eventually, considering her elderly age, harboring multiple metastases, and the absence of severe complaints, we planned radiotherapy to the giant mass on her neck. After applying radiotherapy, she was lost to follow-up again and at the end of the year her sons reported that she was dead. |
A previously healthy 42 years old male presented to our institute with history of gradually progressive and painless swelling over left calf since two months. He was a non-smoker, laborer by occupation. The patient noticed a firm swelling in calf region of left leg 5 years ago. No history of trauma or infection prior to the appearance of the mass was reported. No family history of any such swelling in the past. Patient was operated for swelling over calf region 20 years back but no records were available. There was a history of gradual increase in deformity of left foot since 3 years and the patient had started walking on toes on left side with no dorsiflexion at ankle joint.\nOn examination, there was a single, non-tender, hyperpigmented scar of size 8×3 cm over mid-calf region fixed to underlying structures. A large, well defined non-tender, firm, swelling was palpable in posterior aspect of left leg measuring about 28×8 cm extending from tendoachilles region up to 5 cm distal to popliteal fossa and medially and laterally up to border of tibia and fibula respectively. The overlying skin was normal with no discoloration and local raise of temperature. Movement of knee joint was normal. There was fixed equinus deformity of left foot (). No inflammatory signs, skin changes or adenopathies were present. No bruits were heard on auscultation. Neurovascular examination of left leg and foot was normal. Laboratory findings were within normal limits. Radiological examination revealed large soft tissue mass with linear and streak-like ossification around the left tibia. MR Angiography () showed arteriovenous malformation in left calf with multiple feeding arteries arising from popliteal, peroneal and anterior tibial artery and large draining veins draining deep into venous system of leg. The tibia and fibula marrow showed normal signal intensity.\nBecause of patient symptoms and with clinical diagnosis of a vascular malformation, a wide surgical excision of the lesion was done. Through a 25 cm longitudinal incision across the calf, posterior compartment muscles were exposed. The mass was found completely involving superficial group of posterior compartment muscles sparing the deep compartment with no attachment to periosteum or bone (). Peroneal artery and vein were found to be embedded in the lesion and thus sacrificed. Plane of dissection was between superficial and deep muscles.\nThe lesion was completely removed along with overlying cutaneous scar with wide surgical margins leaving posterior tibial artery in continuity. Intraoperative, complete dorsiflexion of foot was achieved with intact vascularity of leg. The excised specimen was very hard like bone and had to be cut longitudinally with saw (). Grossly the resected specimen showed ossified tissue covered with skin and soft tissues including muscle, tendons and adipose tissue measuring 15×7×5 cm. The cut surface of the ossified area was grey white, gritty and congested (). Microscopically, it revealed features of a vascular malformation with numerous blood vessels of variable size and shape composed of arteries and veins which were dissecting soft tissues and interstitial planes of skeletal muscle.\nMany of the vessels were thin walled with anastomosing and a sinusoidal appearance. Some of them showed fresh and organized thrombi within this vascular background, extensive osseous metaplasia characterized by mature lamellar bone formation was seen. (). The diagnosis was consistent with arterio-venous malformation with extensive osseous metaplasia. At the time of recent follow up after one year from the operation, no local recurrence of the tumor was demonstrated clinically and radiologically. No restriction of motion of ankle joint was found. Patient is presently walking with a normal gait. |
A 73-year-old female of Asian origin with a long-standing history of UC presented with the most severe and persistent flare of her disease. She had received the initial diagnosis of UC in 1997 when she developed abdominal pain and rectal bleeding with loose mucous stools and underwent a diagnostic colonoscopy with a gastroenterologist. She responded to mesalamine (Asacol) given for a period of 6 weeks, which was later discontinued by the patient.\nFor the next 12 years, she was relatively stable with standard American diet recommendations and did not exclude wheat and dairy or focused on the inclusion of particular fermented foods. The patient incorporated powdered ayurvedic and homeopathic oral treatment, which included some spices like nutmeg but did not contain any fresh or fermented products. In the winter of 2009, she experienced intermittent burning and shooting pain predominately in the left lower quadrant of the abdomen. Pain in the right lower quadrant was present often concomitantly, and on occasion, was present in the absence of the left-sided pain. Episodes of rectal bleeding and mucoid loose stools progressed over the duration of the next year. No fever or skin rashes were present at any time. Decreased appetite and overall weight loss of 7 pounds occurred within the 12 months. She was admitted at assorted facilities and underwent consultations with various gastroenterologists and other specialists, with increasing fatigue and finally, an inability to continue working.\nThe differential diagnosis included diverticulitis and tuberculosis among others, all of which were excluded. Multiple, episodic and varied therapies including corticosteroids and mesalamine were prescribed, with limited efficacy and poor tolerance. In December of 2010, her weight was 128 pounds, and she appeared pale, fatigued and chronically ill. She had not been able to function as a physician and was in constant abdominal pain with unremitting bloody diarrhea. Hemoglobin of 10.5 g/dl and mild hypokalemia of 3.2 mEq/l was seen with no elevation of the liver enzymes and normal renal function. White blood cell count was normal. Colonoscopy was performed and revealed pancolitis (fig. ) with sigmoid colonic diverticula but no evidence of diverticulitis or neoplastic changes. Mild to moderate IBD consistent with chronic UC was noted with patchy areas through the cecum, ascending, transverse, descending, and sigmoid and rectum, and some difficulty entering the ileocecal valve. The colonic mucosa revealed friability, multiple tiny ulcers and mucosal edema. Biopsies were obtained throughout the colon and confirmed UC.\nSince the patient had persistent and progressive symptoms, with worsening clinical parameters, given the failure of previous conventional therapy, the SCD was recommended and initiated using Elaine Gottschall's book as the guide []. She proceeded to completely exclude wheat, soy, barley, corn and limited rice. No other dairy products other than daily yoghurt were included. Sugar was limited to honey. No starchy vegetables were eaten and potatoes were eliminated. She ate mostly fish, lean meat, certain fruit and restricted nonstarchy vegetables.\nFollowing this highly restricted diet, within a period of 3–6 months, the patient started noticing improvement with decreased frequency as well as firmer consistency of the stools, blood in the stools was absent and abdominal pain resolved. Within 6 months, she was able to return to her normal activities and career as a physician. Weakness and fatigue dissipated, while weight remained stable, without any regain. Anemia was found to have resolved, and hemoglobin was in the normal range. She continued with strict adherence to the diet due to the remarkable recovery, with dissipation of all of her symptoms over the next 18 months.\nSubsequent colonoscopy done 2 years after starting the diet was conducted in December 2012, and findings on endoscopy showed a remarkable absence of any inflammation (fig. ). Biopsies obtained simultaneously confirmed the complete remission of UC with no inflammatory activity present. Since this time, she has noted that accidental consumption of wheat, peppers and other nonapproved SCD foods caused acute flare-ups, and the prompt elimination of these foods resulted in improvement of symptoms within a few days. She has not required hospitalization or additional therapy for UC since the institution of the diet and continues to be essentially in remission from the IBD. A few episodes of self-limited diverticulitis have been noted since. |
A 63-year-old white man presented in January 2001 with prostatic adenocarcinoma on transurethral resection of the prostate (TURP). At the time of the TURP, the patient's PSA was 3.1 ng/mL. Pathology revealed Gleason 3 + 5 in 7 of 60 chips (approximately 10% of the specimen). At the time of consultation, he had abnormal digital rectal examination findings, with a firm nodule on the right base and induration extending to the right seminal vesicles. Bone scan, computed tomography of the pelvis and chest x-ray were negative for metastatic disease. The patient was therefore staged as T3b. The patient had a family history significant for prostate cancer in his father, grandfather and 2 uncles. He was otherwise healthy.\nThe patient enrolled in a phase I-II trial evaluating combined IMRT and in situ gene therapy., , At the time of enrollment, the patient underwent a prostate biopsy revealing Gleason 3 + 4 adenocarcinoma in 4 out of 6 cores. He was treated on protocol with IMRT to the prostate and seminal vesicles, cytotoxic gene therapy with intraprostatic injection of ADV/HSV-tk, oral valacyclovir and concurrent androgen deprivation with leuprolide for 4 months. Gene therapy involved injections on days 0, 56, and 70. Each injection was followed by 14 days of valacyclovir. Androgen deprivation therapy consisted of flutamide starting on day 0 for 14 days and a 4-month injection of leuprolide on day 0. Radiation therapy started on day 58 and proceeded for 35 fractions to a total dose of 70 Gy. The patient finished treatment in May 2001. After treatment, the patient's PSA declined to 0.1. Posttreatment prostate biopsies were negative.\nThe patient had 37 months off all therapy with no evidence of disease until his PSA began to rise to 1 ng/mL in June 2004. Magnetic resonance imaging (MRI) of the pelvis in July 2004 was unremarkable and he was observed. In November 2004 he had back pain and tinnitus. PSA at this time was 3.1 ng/mL. MRI of the spine demonstrated a nodular appearance in the thecal sac and sacral spinal canal suggesting intradural metastatic disease. Lumbar puncture revealed cells consistent with adenocarcinoma. MRI of the brain suggested tiny foci of cranial leptomeningeal disease. The patient was treated with leuprolide, bicalutamide, and conventional radiation therapy to the lumbar and sacral spine. Chemotherapy with taxotere was deferred due to continued hormone sensitivity. The brain lesions decreased in size with androgen deprivation and were observed until September 2005 when the patient had seizures and difficulty swallowing. MRI done at that time revealed growth of a left sided tentorial-based lesion (), and new dural based lesions in the middle cranial fossa and right frontal parasagittal region. Spinal leptomeningeal disease was also seen diffusely with the exception of the area of prior radiation. The patient's cranial disease was treated with stereotactic radiosurgery (16 Gy to each of the 3 lesions) in November 2005. Stereotactic radiosurgery was chosen over whole brain radiation due to the absence of brain parynchymal metastasis, the desire to preserve bone marrow for systemic chemotherapy, and the ability to initiate systemic chemotherapy sooner. His neurologic symptoms resolved, and he was then treated with intrathecal cytarabine and systemic mitoxantrone.\nThe patient was admitted to the hospital in January 2006 where he was found to have disease in the left temporal lobe, pituitary, and spinal cord. He became weaker, less responsive and died 2 weeks later. Autopsy () performed the day after his death revealed 2 light tan exophytic nodules in the dura: one in the left sphenoid bone region and one near the right posterior foramen magnum. Each lesion was found to have prostatic adenocarcinoma of the ductal endometrioid type with a Gleason score 5 + 4 = 9 (). The remaining central nervous system was found to have an 8 mm lesion in the left temporal lobe (corresponding to the treated lesion) and a 9 mm lesion in the left parahippocampal region which was new. All brain lesions were leptomeningeal based. Diffuse leptomeningeal spinal disease was also apparent. No malignancy was found in the other organs of the body including the lymph nodes, bone, bone marrow, liver, or lungs. The testes were atrophic. Examination of the prostate revealed treatment effects without evidence of adenocarcinoma. |
A 62-year-old female presented for evaluation of recurrent left lower extremity swelling. Her medical history was notable for prior deep vein thrombus in the right distal lower extremity while on hormone replacement therapy (HRT). She denied the active use of HRT and tobacco use during this admission. Venous Doppler ultrasound completed in the emergency room revealed extensive thrombosis of the left lower extremity extending superiorly towards the left common iliac vein. Further imaging with ultrasound revealed compression of the left iliac vein by the right iliac artery as well as a significantly elevated reflux time of the left great saphenous vein (14.2 seconds) suggestive of MTS. The patient was taken to the operating suite and during the procedure the common iliac vein appeared normal distally, but more proximally the vein was narrowed significantly to a diameter of less than 2 mm. Prior to entering the inferior vena cava, the common iliac vein normalized. Using intravenous ultrasound, measurements were taken and a 14 x 60 mm Luminexx stent was deployed at the area of stenosis. The stent was noted to have migrated upward into the inferior vena cava and a buttressing of this stent with a 16 x 40 mm Wallstent was placed to ensure adequate apposition. Unfortunately, this caused further migration upward into the IVC and a 14 mm Atlas balloon was used to help secure the migrated IVC stent. The area of stenosis was no longer stented given this migration. Therefore, stenting of the left common iliac vein stenosis was ultimately achieved with a 14 x 80 mm Luminexx stent (). The patient was started on warfarin with heparin bridging postoperatively. Early ambulation and the routine use of elastic stockings were encouraged following the procedure. The following day the patient complained of severe abdominal pain and an abdominal x-ray revealed only two stents located in the abdomen (). A chest x-ray was obtained and revealed the initial 14 x 60 mm Luminexx stent projecting over the right atrium (). She underwent open-heart surgery for stent retrieval and had a postoperative course complicated by atrial fibrillation and recurrent left sided lower extremity DVT managed with catheter directed thrombolysis. Hypercoagulable work-up revealed homozygosity of the Factor V Leiden gene mutation. One week after discharge, she developed hypotension and lightheadedness. She presented to the emergency department and was found to have pericardial tamponade requiring blood transfusion, pericardiocentesis, and pericardial window. Anticoagulation treatment was stopped during hospital stay and not resumed upon discharge.\nThree weeks later, she had a syncopal episode secondary to a massive pulmonary embolus (PE). Imaging also revealed residual DVT in bilateral lower extremities. She underwent thrombolysis with tissue plasminogen activator and subsequently developed a thoracic hematoma. Given the residual clot burden in the bilateral lower extremity, she underwent IVC filter placement and mechanical thrombectomy. No additional stents were placed. Throughout the hospitalization the patient required multiple blood products after developing a hematoma related to recent thoracic surgery. The patient was eventually stabilized and given the Factor V Leiden mutation and life-threatening PE, she was started on rivaroxaban indefinitely. Since these events, she has been followed closely as an outpatient with no known hospitalizations related to bleeding or thrombosis. At 5-year follow-up, the patient reports that she is doing well. She is not experiencing any complications related to rivaroxaban. She does have residual postthrombotic syndrome (CEAP class 3, Villalta Score 8) well managed with daily compression stockings. |
A 50 year old female patient previously healthy has undergone an abdominal ultrasound demanded by her primary care physician when her routine checkup blood test showed a slightly elevated level of liver enzymes with no other lab abnormalities. This ultrasound showed right adrenal lesion of 9 cm of diameter. An Abdominal MRI was then done and revealed a soft tissue necrotic encapsulated mass of 10 × 9 cm of right adrenal gland origin. She was completely asymptomatic and the physical exam was strictly normal. Endocrinological evaluation was done with normal hypothalamic-pituitary-adrenal axis function and no hyper secretion of catecholamines. The patient was considered to have a non-secreting right adrenal mass for which an adrenal scan was done and showed a well encapsulated 10 × 9 × 7 cm heterogeneous right adrenal mass with areas of necrosis and calcifications without local invasion (). The decision of right laparoscopic trans peritoneal adrenalectomy was taken with the patient. The surgery was done under general anesthesia after central and arterial lines insertion, the patient was on left decubitus position. 5 trocars were inserted as follows: The first 12-mm port was inserted at the lateral border of the rectus abdominis muscle just above the level of the umbilicus to accommodate the camera. Two subcostal 11 mm ports were also placed; one in the midclavicular line and the other in the lateral border of the rectus abdominis muscle. The forth 5-mm subcostal trocar was inserted in the anterior axillary line to retract the liver and the fifth 5 mm one was inserted in the epigastrium and used specially for aspiration and irrigation. After liver retraction, the peritoneum along the lateral aspect of the IVC was incised to expose the IVC just below its intrahepatic course. The duodenum which was diverted by the mass was mobilized. Dissection was next carried inferiorly by incising the peritoneum along the lateral edge of the vena cava to the superior edge of the renal vein. Dissection of the mass was subsequently carried out with special care at the medial aspect where we found that the wall of the IVC and the renal vein were very adherent to the mass which had a lot of small vessels that were oozing during all the time of the surgery (). In addition, the mass was extended posterior to the vena cava and we could not do a medial retraction of the IVC since the tumor was adherent to it. In front of these facts, we decided to convert to open surgery by a sub-costal incision (between two trocars) that allowed us to remove the mass safely (). A drain was put in the retro peritoneum at the end of the surgery, the operative time was 200 min, the blood loss was 850 cc and no transfusion was done. The drain was removed at the second post-operative day and the patient was discharged uneventfully on the sixth day after surgery.\nHistologically, the tumor consisted of spindle cells with alternating areas of compact hypercellularity with irregular streams and without atypia or mitosis (). This tumor was completely compressing and reducing the adrenal gland that was laminated but intact without histological abnormalities (). Immunohistochemical analysis demonstrated negative CKAE1-AE3, synaptophysine and chromogranine. In contrast to these results, S-100 and CD68 (PGM1) staining were diffusely positive across the tumor (). Thus, the evidences corresponded to a benign schwannoma (). |
The patient was a 24-month-old Hispanic male who presented to our Endocrinology-Genetics Clinic for a follow-up evaluation due to his history of failure to thrive and short stature (Figs , ). He was the third child born to his parents and was delivered at 38 weeks of gestation to a 32-year-old mother via spontaneous vaginal delivery. The pregnancy was complicated by diet-controlled gestational diabetes. His birth weight was 3.3 kg (25%ile) and birth length 47 cm (7%ile), both appropriate for gestational age. He was identified with undescended testes after birth. The only postnatal issue was jaundice that required 2 days of phototherapy. Family history was significant for one older male sibling with poor weight gain beginning at age 2 years until age 5, which subsequently resolved without medical intervention. Genetic testing was not indicated on the sibling after evaluation by the genetics team. No other family history of syndromic conditions, recurrent pregnancy losses, abnormal short stature, or learning disabilities. His father’s height was 152 cm and his mother’s height 144 cm, resulting in a mid-parental height of 154.5 cm (0.1%ile). Despite recommendations for parental genetic testing, neither parent has the financial means nor health coverage to do so.\nAt 4 months of age, the patient began to display poor weight gain in absence of vomiting or diarrhea. No febrile illnesses or difficulty swallowing. He was breastfed until 8 months of age, then transitioned to regular formula without difficulty. He was also started on pureed table foods without problem. At 10 months of age he was referred to pediatric gastroenterology due to lack of appropriate weight gain. He was started on fortified milk and foods. Sweat test, CBC and electrolytes were reassuring. At 12 months of age he was followed weekly for weight checks. At 16 months of age he was admitted when noticed dropping his weight from 7.2 to 7.0 kg from the previous week, and had intensive workup for failure to thrive.\nDue to suspicion of abnormal facial features, the genetics service was consulted. On examination he appeared small for his age, but was interactive. He had hypertelorism with innercanthal distance 3.5 cm (above +2SD), down-slanting palpebral fissures, flat midface and philtrum, low set ears, upturned nose and overlapping toes. He also had a 2/6 systolic murmur. The rest of the exam was unremarkable. Transthoracic echocardiogram, plasma amino acids, urine organic acids, ammonia, lactate, thyroid stimulating hormone, free thyroxine and celiac screen were negative for abnormalities. Chromosomal microarray and karyotype was ordered, which demonstrated 47,XYY (Figs , ). The karyotype finding was incidental, as it would not explain his facial features and growth difficulties. At the follow-up clinic visit at age 18 months, his presentation was more suspicious for NS, so a NS genetic panel was ordered. The gene test was conducted via Sanger sequencing of the tyrosine phosphatase non-receptor type 11 gene (PTPN11) gene, which detected one pathogenic mutation: c.922A > G; p.Asn308Asp. The p.Asn308Asp has been reported in many patients with NS and is estimated to account for about 30% of cases []. He had subsequent evaluation for related renal, cardiac, ophthalmologic and audiological abnormalities, which were reassuring.\nWith a confirmed diagnosis of NS and in the presence of poor growth, he was evaluated by pediatric endocrinology at age 24 months. Insulin-like growth factor-1 (IGF1) and insulin-like growth factor binding protein 3 (IGFBP3) were 61 ng/mL (30–122) and 1810 ng/mL (972–4123), respectively. He was demonstrating low normal growth velocity at 8 cm/year. The option of starting growth hormone (GH) treatment was discussed, though deferred due to parent’s preference and questionable benefit to starting it at this age for growth failure. The clinical team recommended continued observation while on a high caloric diet. |
A 63-year-old Japanese woman was referred to our department because of an abnormal shadow at the left side of her chest wall on computed tomography. She had undergone total hysterectomy and radiotherapy for cervical carcinoma 4 years prior. One year after the first surgery, three metastatic lung nodules appeared at the upper lobe of her right lung, the lower lobe of her right lung, and the lower lobe of her left lung. Wedge resection for upper and lower lobe of her right lung was initially performed via three-port thoracoscopic surgery. Then, wedge resection for the lower lobe of her left lung was performed via eighth intercostal single incisional thoracoscopic surgery. After the surgery, an intrathoracic chest wall mass developed which increased in size gradually. Her gynecologist introduced her to our department for surgical resection of the mass. Her family, including her parents and two sisters, had been healthy and had no inheritable diseases. She had no symptom, drug history, tobacco smoking history, or psychosocial history, and she was a social drinker. She had not received any medications since the mass developed and until admission to our hospital. She had undergone an operation three times as mentioned above and had been a carrier of type B hepatitis.\nAfter her admission to our department, her general condition was good, and there were three operative scars at both sides of her chest and lower abdomen. Her chest sounds were clear and there was no neurological abnormality. She was 151.1 centimeters tall and weighed 49.8 kilograms. Her heart rate was 77/minute, blood pressure was 135/87 mmHg, and body temperature was 36.1 °C. The laboratory findings were white blood cells 5.25 × 103/μL, hemoglobin 12.7 g/dL, and platelets 156 × 103/μL. A liver function test revealed: albumin 4.6 g/dL, aspartate aminotransferase 15 U/L, alanine aminotransferase 13 U/L, and total bilirubin 0.3 mg/dL. A renal function test revealed blood urea nitrogen 13.6 mg/dL and creatinine 0.79 mg/dL. An electrolyte test revealed sodium 143 mEq/L, potassium 3.8 mEq/L, and chlorine 106 mEq/L. A tumor marker test revealed carcinoembryonic antigen 3.4 ng/mL and squamous cell carcinoma antigen 0.80 ng/mL. Another test revealed positive reaction to type B hepatitis surface antigen and C-reactive protein < 0.1 mg/dL. Computed tomography demonstrated a gradually increasing low-density mass measuring 2.0 × 1.8 cm in diameter (Fig. ). Magnetic resonance imaging demonstrated a low-intensity mass in T1-weighted imaging and a high-intensity mass in T2-weighted imaging (Fig. ). The mass was thought to be a singular cyst; however, this type of cyst was rare and the mass was increasing. Therefore, dissemination of cervical carcinoma could not be excluded, and surgical removal of a part or tissue of the mass was performed.\nIn the right lateral position, thoracoscopic excision of the mass was done with two ports (3 mm and 2 cm access ports) by two general thoracic surgeons (Fig. ). First the 3 mm port was set at the sixth intercostal space on the inframammary line. Most of her left lung was attached to her chest wall; therefore, the second port was set above the cyst and lysis of adhesions was done. After the lysis, the cystic mass was found adhering to the upper lobe of her left lung. The adhesion of the mass to her lung was not strong and could be separated without injury to the visceral pleura. Therefore, the mass was thought to derive from the chest wall pleura and was resected by adhesiolysis.\nThe mass was a unilocular cyst containing mucinous fluid. On microscopic examination, the cyst was lined with a single layer of cuboidal epithelium (Fig. ); immunohistochemistry showed positive staining of calretinin and D2-40 (Fig. ). Thus, the cyst was diagnosed as mesothelial cyst derived from the chest wall pleura. Five years after the surgery, our patient had no evidence of cyst or cervical carcinoma on computed tomography. |
A 2-year-old malnourished girl presented to our outpatient department with erythematous scaly plaque over left upper arm. She also had bony swellings over nose, fingers, left foot, and back for the past 1 year. The child was highly irritable and pale looking and as per the parents, suffered from intermittent low-grade fever. History revealed that the girl was delivered as a healthy baby of an apparently healthy mother in a hospital setting. She was in perfect health at birth with a normal birth weight. BCG vaccine as a part of national immunization protocol was given to the baby at the age of 6 weeks. She received other vaccines on time. As reported by the parents the vaccination was followed by development of an erythematous papule over the arm, which ulcerated after 1 month. However, the ulcer never actually healed completely in spite of various topical medications. The ulcerated lesion kept increasing in size slowly for the next 3 to 4 months; finally, developing into a large plaque of size 5 cm × 8 cm []. The lesion was painless. At around 1 year of age however, the parents noted appearance of multiple bony swellings involving fingers, foot, root of nose, and vertebral column. [Figures –] The swelling over the fingers was painful and associated with ulceration and discharge. The skin overlying foot and back swelling was relatively normal, except for mild ichthyotic changes. Throughout this period, the plaque over the arm kept on increasing in size slowly.\nApart from the skin and bone changes, the child also suffered from low-grade intermittent fever and loss of appetite. However, there was no history of chronic cough, hemoptysis; neither there was any symptoms of gastrointestinal or central nervous system involvement. There was also no history of contact in the family or neighborhood. The child had been treated with oral and intravenous antibiotics on several occasions over the past year but the symptoms persisted.\nOn examination, the child was found to be malnourished. Her body weight was 8 kg, which was around 70% of the expected weight for a child her age. She was pale, irritable, and her body temperature was 98.7 F. The plaque over the left arm was 5 cm × 8 cm in size at the time. It was erythematous, indurated, and scaly with a raised and irregular border. There was central atrophy with areas of scarring and surrounding xerotic skin. At the root of the nose, a hard swelling was seen but with no surface changes. Tender bony swellings were also seen over left middle finger and right thumb with overlying scaly, erythematous plaque. A diffuse swelling could also be felt over dorsum of left foot, which was firm and tender. Similar such swelling was seen over the upper back in midline. No lymphadenopathy was noted however, with spleen and liver apparently normal, the child was otherwise normal.\nLaboratory investigations showed normocytic normochromic anemia (Hemoglobin- 8.3 gm%), raised white blood cell count and a raised ESR. Mantoux test was done and was positive (9 mm × 10 mm). X-ray of the bones revealed lytic lesions in the involved areas [Figures and ]. USG of whole abdomen and the chest X-ray were within normal limits. ELISA for HIV was negative.\nAt this moment, in consultations with her pediatrician we had two differential diagnoses: Langerhans cell histiocytosis (LCH) or disseminated tuberculosis following BCG vaccination.\nTo establish the diagnosis, a skin biopsy was taken from the plaque and histopathology was done. Under light microscopy, tuberculoid granulomas were seen with giant cells in the dermis []. Ziehl-Neelsen stain for acid-fast bacilli was negative, and so was Periodic acid–Schiff stain for fungus. We also did the special immune-stain for CD1a. However, the immune-stain came negative ruling out LCH.\nTo avoid delay in treatment, the child was admitted and started on a trial of standard antitubercular drugs, with a provisional diagnosis of disseminated BCG infection. In the meantime, a culture was done for Mycobacterium, but it came out to be negative with no growth seen after 8 weeks. However the child responded very well to the treatment. Furthermore, to further establish the diagnosis, a polymerase chain reaction (PCR) sample was sent. The PCR showed positivity for Mycobacterium tuberculosis complex (MTC) [].\nThe case was diagnosed as disseminated tuberculosis with multiple skin and bony involvement, initiated by BCG vaccination.\nThe child was kept admitted to the department of Pediatrics and her treatment on standard antitubercular drugs were continued. Improvement was noted in her general condition too, soon after start of the treatment. The fever subsided and appetite returned to normal gradually. Cutaneous lesions as well as bone swellings started to regress. After 6 months of treatment, lesions had resolved completely with only residual scarring and deformity for which she was referred to department of Orthopedics [Figures –]. |
A 61-year-old male patient presented to the emergency room (ER) on account of a 3-month history of hemoptysis as well as a 2-week history of right upper extremity weakness and numbness.\nHemoptysis was associated with pleuritic right-sided chest pain as well as orthopnea and had been previously treated with two courses of empiric antibiotics and steroids at an outside hospital without improvement prompting his presentation to our emergency room.\nWeakness and numbness of the right upper extremity were initially associated with a painful right palmar rash which was resolved with self-administered topical corticosteroids at home.\nPast medical history was significant for untreated latent tuberculosis (TB) diagnosed about forty years prior to this presentation as well as coronary artery disease requiring stent placement twice in the past.\nOn presentation, the patient was not in acute distress but was tachycardic at 100 beats per minute, with a respiratory rate of 16 cycles per minute and an oxygen saturation of 100 percent on room air. Blood pressure was 144/87 millimeters of mercury, and temperature was 99 degrees Fahrenheit.\nOn physical examination, he was afebrile and had normal breath sounds and heart sounds without murmurs. Neurological examination was notable for reduced sensation to light but not crude touch over the right hand with reduced strength of 4/5 in that in same extremity. Laboratory studies were significant for a white blood cell count of 18,400 per microliter with 76.3 percent neutrophils, an erythrocyte sedimentation rate of 90 millimeters per hour, and a C-reactive protein level of 167 milligrams per liter.\nImaging done on admission revealed multifocal lung opacities () concerning for community-acquired multifocal pneumonia (possibly secondary to a resistant organism as patient had completed courses of cefdinir and levofloxacin at the outside hospital without resolution of his symptoms). Other considerations were for possible septic emboli of undetermined source as well as reactivated pulmonary tuberculosis given his long-standing history of latent TB with multiple positive skin purified protein derivative tests in the past.\nCT scan of the head without contrast was concerning for a possible infarct of unclear age, and a follow-up MRI revealed possible abscess collection (Figures and ).\nHe was initially placed on airborne isolation with empiric first-line antituberculosis agents (which were discontinued after 6 negative acid-fast bacilli sputum samples were obtained) as well as empiric antibiotics (vancomycin and piperacillin/tazobactam) for possible multifocal pneumonia, based on recommendations of the infectious disease consultants. Two blood cultures, obtained on admission, returned positive and grew Streptococcus intermedius sensitive to ceftriaxone, levofloxacin, tetracycline, erythromycin, clindamycin, and vancomycin. A transthoracic echocardiogram showed normal left ventricular systolic function and normal valves without regurgitations, stenosis or, vegetations.\nA subsequent transesophageal echocardiogram (TEE) revealed an 8.3 × 4.6 mm oscillating dumbbell-shaped vegetation arising from the Chiari network, close to the os of the right atrial appendage (), without evidence of valvular vegetations, insufficiency, or a patent foramen ovale.\nA diagnosis of infective endocarditis was made based on the modified Duke criteria with two separate blood cultures positive for Streptococcus intermedius, echocardiographic findings of an oscillating intracardiac mass, consistent with a vegetation, and septic pulmonary and intracranial lesions []. Medical management was chosen at the time of the diagnosis of this Chiari network endocarditis with septic emboli to the lungs and brain, with plans for repeat imaging with a transesophageal echo after six weeks of appropriate antibiotic therapy.\nAntibiotic coverage was thus narrowed and tailored to the culprit organism with ceftriaxone, and gentamycin was added for endocarditis synergy per infectious disease team recommendations. Clinical and laboratory evidences of improvement including resolution of the hemoptysis and right upper extremity weakness as well as reduction in the white blood cell count from 18,400 per microliter on admission to 6400 per microliter and in the erythrocyte sedimentation rate from 90 millimeters per hour to 28 millimeters per hour as well as the C reactive protein from 167 milligrams per liter to 0.9 milligrams per liter were documented.\nInterval reduction in the size of the lung lesions but not the brain lesions was noted after four weeks of parenteral antibiotic treatment, and neurosurgical evaluation for possible evacuation of the abscess was thus recommended. The patient was transferred to an outside hospital where those services were readily available. He had an image-guided stereotactic drainage of the abscess via a left parietal burr hole, with initial gram stain of the fluid showing gram-positive cocci, but the culture had no growth after 5 days probably because the patient had been on appropriate antibiotics for four weeks prior to the drainage procedure.\nThe patient completed six weeks of antibiotic therapy at the outside hospital and was discharged home in a stable clinical state but did not follow up as recommended. |
A 37-year-old female from Spain presented to our center in August of 2017 with complaints of chronic intractable pain in the coccyx. The patient suffered from this pain since 2009 when she sustained a coccyx fracture in a work-related slip and fall injury while working as an airline stewardess in Europe. At the time of presentation, the patient endorsed 10/10 coccyx pain on visual analog scale. She described the pain as sharp, stinging, shooting, and radiating throughout her bilateral lower extremities. Due to the injury, she was forced to quit when her pain prevented her from performing her duties. At the time of presentation, she could not sit or walk for more than 10 minutes consecutively and required special cushioning to be brought with her at all times.\nPrior to presenting to our center, she had been evaluated and treated by pain management physicians, orthopedic surgeons, and multiple urgent care clinicians in both Spain and the UK. Her past treatments in Europe included multiple coccygeal blocks, trigger point injections, epidural steroid injections, and a conventional spinal cord stimulator in 2011. The spinal cord stimulation therapy consisted of an ANS Genesis (company acquired in 2005 by St. Jude Medical, which was subsequently purchased by Abbot) spinal cord stimulator with one octode lead placed through the sacrococcygeal hiatus. This stimulator was placed in Spain in 2011 and the patient continued to use the stimulator at presentation. Stimulator treatment was previously complicated by an infection, which was treated with IV antibiotics and surgical debridement. The patient reported pain relief from the stimulator, but she was experiencing diminished relief from the stimulator over the last several years and also had inadequate coverage in her most painful region, which was the coccyx itself. She continued to have the stimulator turned on as it provided some relief, but she was still incapacitated from the pain. She was maintained on a pain medication regiment consisting of oxycodone 10 mg PO BID, dexketoprofen 25 mg PO QID, duloxetine 60 mg PO QD, trazodone 100 mg PO QD, and pregabalin 75 mg PO BID. Despite this intensive medical treatment, the patient experienced poor symptom control in addition to side effects from these medications, including constipation and drowsiness.\nThe patient presented to us seeking other potential options for pain relief, in particular a conventional radiofrequency ablation of the nerves innervating the coccyx or an endoscopic radiofrequency ablation of those nerves. Considering the patient's persistent severe coccydynia and failure of extensive conservative and interventional treatments and the chronicity of her pain, we proposed a DRG stimulator trial in September of 2017. The use of DRG stimulation for coccydynia is an off-label use; the reason we considered DRG stimulation was secondary to our highly successful experiences with DRG stimulation for both complex pelvic and rectal pain, as well as low back and SI joint pain. Our rationale for proceeding with the trial was the potential for better regional coverage versus conventional sacral nerve stimulation, similar to our experience in those cases.\nOur proposed approach was a bilateral L1 and S2 DRG stimulator trial. The patient decided to proceed with the DRG stimulator trial and underwent psychological clearance prior to the procedure. During the 7-day trial, the patient rated her pain less than 1/10 on visual analog score, improved sleep hygiene, functioned better in general, and was actually able to ambulate for approximately four miles without limitations. Prior to the trial she could not walk more than a city block without severe pain. She was able to function better in almost all her daily activities and she was able to position herself with minimal limitations and without the aid of her cushion, which she previously carried with her at all times, and claimed to have close to 100% coverage of her pain. After the trial, the patient decided to proceed with permanent lead implantation. She understood she had the option to have the procedure performed in Europe or to have it performed at our institute. After consideration, she decided to proceed with the implantation at our center. We then decided to leave her current spinal cord stimulator system in place rather than to explant the system.\nA board-certified anesthesiologist monitored the patient throughout the implant procedure. Thirty minutes prior to the procedure the patient received 2 grams of cefazolin. The patient was placed in the prone position with bolsters under the lumbar/lower thoracic region. After positioning was deemed adequate, the patient received propofol sedation. The lumbar spine and buttocks were prepped and draped in normal sterile fashion with betadine followed by DuraPrep. The L1 vertebral body was then aligned on fluoroscopy and 1.0% lidocaine mixed with 0.5% bupivacaine was used for local anesthesia. A Tuohy needle was inserted at the right side one level below the left L1 target foramen at the level of the pedicle and was then guided toward the midline at the interspace of the target level. Loss of resistance to air was achieved close to the midline. At this point, the 4-contact DRG lead (Axium™, St. Jude/Abbot, Lake Bluff, IL) was loaded into the introducer catheter with the lead tip approximately 2-3 mm outside of the introducer. The loaded introducer was then passed into the Tuohy needle. The introducer then accessed the epidural space and was directed toward the foramen. The introducer was passed through the target foramen until the middle two contacts were under the level of the pedicle. The introducer was then withdrawn to approximately 5 mm after the proximal contact while applying counterforce on the lead. A strain relief loop was created in the usual fashion []. Subsequently, the introducer was removed from the Tuohy needle and the lead was left in place. Fluoroscopy was performed to confirm no displacement of the lead had occurred. The same procedure was performed to place a lead on the right L1 DRG. Figures and depict the position of bilateral leads on the L1 level.\nAt this point the right S2 foramen was aligned under fluoroscopy. A Tuohy needle was directed into the posterior S2 foramen and its position was confirmed on fluoroscopy. The lead loaded introducer was then passed through the anterior foramen and the electrodes were maneuvered such that the final position was with 1 contact anterior to the anterior wall of the sacral vertebral body (extraforaminal), 2 contacts intrasacral, and 1 contact in the sacral epidural space. A strain relief loop was created as previously described []. The introducer was then withdrawn into the Tuohy needle with the lead left in place. In withdrawing the Tuohy needle another small loop was placed subcutaneously for additional tensile strength. The lead position was checked again in the AP and lateral position. The same procedure was performed to place a lead on the left S2 DRG. Figures and depict the position of bilateral leads on the S2 level.\nAll 4 lead positions were then checked again and found to be in good position as well as their tension loops. The leads were then secured with Tegaderm. A marking was placed on the right buttock that was 4 cm transverse in the upper outer quadrant, since the patient's ANS Genesis stimulator was implanted on the left side. 10 cc of 1.0% lidocaine mixed with 0.5% bupivacaine was used to anesthetize the incision site. An incision was made and a pocket was created. The leads were tunneled to the pocket as previously described []. The leads were connected to the pulse generator and impedances were confirmed. The incisions were irrigated with Bacitracin solution and the generator was anchored with 2.0 Ethibond. The right buttock wound was closed in layers by using 2.0 Vicryl and the skin was closed with staples. All 4 lead puncture sites were small and the leads were not visualized with manipulation of the puncture site. The lead placement puncture sites and the buttock incision were covered with Steristrips followed by gauze and Tegaderm.\nOn four-month follow-up, the patient still reports >90% pain relief from the stimulator therapy with concomitant improvements in daily functioning. The improvement in pain control allowed her to discontinue her oxycodone, which was causing her to suffer from side effects before. |
A 25-year-old male patient, a laborer by profession, reported to the outpatient department of Sardar Patel Post Graduate Institute of Dental and Medical Sciences, Lucknow, with the chief complaint of painless swelling on the left side of the face since one and a half years [].\nThe patient was apparently asymptomatic one and a half years back. Then he noticed a swelling on the left side of the face, swelling was painless in nature from its inception, and initially of a small dimension, which gradually increased in size up to the present size. The patient had consulted at another medical college for the same complaint 6 months earlier and was operated under local anesthesia. An intraoral incisional biopsy was performed after the extraction of first premolar from the left maxillary quadrant. Histopathologic report of the specimen was indicative of ameloblastoma. Past history and medical history were not relevant. He was taking no medication and had no history of known drug allergy. His physical examination revealed no abnormality other than those related to the chief complaint.\nOn extraoral examination, detectable facial asymmetry was present on the left side. Well-circumscribed, nontender, nonfluctuant, smooth surfaced swelling of hard consistency, spherical in shape and approximately 5 × 4 cm in size was present in the left maxillary region extending from midline to 5 cm anterior to the tragus. Superiorly it extended up to the infraorbital fold. Obliteration of nasolabial fold was present along with slight elevation of alar base on the left side. On superficial examination of the nostrils, the nasal floor was found to be elevated in the left nostril.\nOn intraoral examination, bicortical expansion was present in the left maxillary quadrant vestibular area extending from midline to third molar, causing complete obliteration of vestibular on the buccal side and also extending into the palatal region from the left maxillary central incisor region to the greater palatine foramen region and up to the midpalatal region. Egg shell crackling was present buccally as well as palatally [].\nVitality test revealed 11, 21, 22, 23 to be vital and 25, 26, 27 to be nonvital. Needle aspiration performed through area of fluctuance revealed yellow straw colored fluid with plenty of cholesterol crystals.\nDetailed radiographic examination (including 3-D CT scan) revealed the presence of multilocular lesion extending from left maxillary central incisor to the third molar region. Multilocularity is of honey comb appearance in the anterior part of the maxilla up to premolar, whereas posterior molar part showed soap bubble appearance []. Complete obliteration and haziness of left maxillary sinus along with involvement of lateral wall of piriform aperture was observed []. Interestingly, anterior teeth up to the canine showed mild displacement, which is suggestive of less aggressive nature, whereas premolar and molar showed extensive root resorption, which indicates more aggressive nature of the lesion. Provisionally, a diagnosis of odontogenic cyst was made.\nThe patient was operated under general anesthesia and with the help of intraoral approach and osteotomies, the lesion was thoroughly removed leaving sufficient tissue margin. Extraction of all involved teeth was done. Surgical bed was treated with freshly prepared Carnoy's solution to achieve chemical cauterization. Excised specimen was sent for histopathologic examination [].\nHistologic analysis of the surgical specimen revealed UA []. The ameloblastoma was completely surrounded by a dense fibrous capsule and lined with ameloblastic epithelium, with tall columnar basal layer, subnuclear vacuoles, reverse nuclear polarity, and central layer of edematous, stellate cells. The immediate postoperative healing was uneventful.\nPostoperative recall checkup was performed to observe recurrence for a period of 1 year in which noticeable improvement was seen clinically extraorally and intraorally [Figures and ]. The Paranasal Sinus Radiograph showed bone healing and reduction in size of radiolucency []. During the recall checkup and subsequent follow-up period, there was no evidence of recurrence and the patient showed a drastic improvement in his condition. |
Twelve-year-old boy presented with very disruptive symptoms of rhinitis with significant nasal obstruction as well as sneezing, rhinorrhoea and very disturbing nasal and ocular pruritus. These symptoms developed every year during the summer months and were persistent and severe, affecting his ability to sleep and his performance at school. His exam marks were lower in his summer examinations compared to those earlier in the year. He also felt that his nose problems were restricting his sport and social activities during the period when the weather was good; he liked playing outside. He was tested for different airborne allergens and both skin and specific IgE testing showed sensitization to grass pollen confirming grass pollen allergy. The previous years, he had been prescribed loratadine, intranasal mometasone furoate, montelukast and sodium cromoglicate eye drops, which he was taking. Despite good adherence, he continued to have poor disease control.\nGiven his continued symptoms, that were impacting on this quality of life, despite optimal pharmacotherapy, he was started on sublingual immunotherapy to grass pollen. He took the first dose in clinic and continued with the treatment at home. He initially had some local pruritus but this settled after a couple of weeks. One year into this treatment, he was already feeling some improvement and was able to reduce the medication he was taking to loratadine only.\nAllergen-specific immunotherapy (IT) is the only disease-modifying treatment for allergic rhinitis. It is able to change the natural history of this condition and to provide long-term remission [,]. It is indicated in patients over 5 years old with demonstrable IgE to clinically relevant allergens, particularly in patients where pharmacological treatment has failed to control symptoms []. Since he was having troublesome symptoms despite maximum pharmacological therapy and the symptoms were due to grass pollen exposure to which he had detectable IgE, he was a good candidate for this treatment. There are standardized extracts to grass pollen commercially available to administer via the subcutaneous or the sublingual route [,]. Although there are very few head-to-head studies comparing subcutaneous immunotherapy (SCIT) and sublingual immunotherapy (SLIT), both forms are effective if appropriately used [,]. In terms of safety, SCIT more frequently causes systemic adverse events while SLIT tends to cause more local side effects, which are usually mild and resolve with continuation of treatment [,]. Severe adverse events are commonly associated with uncontrolled asthma, high allergen exposure during therapy, concomitant diseases such as severe infections and inexperienced health care staff. Premedication with an antihistamine may decrease the rate of adverse effects []. The decision on whether to do SLIT or SCIT depends on a variety of factors, including patient’s preference about home-based versus hospital-based treatment, fear of injections, costs and concordance.[]. In children, SLIT is more widely accepted but may have lower patient adherence []. Although SLIT is given at home, the first dose should be given at the doctor’s office. This is also the opportunity to give detailed instructions about how to administer the treatment and about the precautions to be taken. Patients should be informed about possible adverse reactions and about the ways to treat them. Apart from the effectiveness in reducing symptoms and medication use, another potential advantage of allergen-specific immunotherapy is its preventative effects in reducing asthma and the development of further allergic sensitizations [-]. This is particularly important in the pediatric age groups. When clinically indicated, IT should be started early in the disease process, before significant remodelling and fixed airway obstruction has developed in the case of patients with asthma. As allergen-specific immunotherapy is the only disease-modifying treatment available for allergic rhinitis and respiratory allergy, it may be considered as a therapeutic option even before trying maximal therapy, depending on individual cases, clinical practice and finance. |
An 80-year-old female underwent a Hartmann's procedure with intraoperative radiation therapy in 2008. A metastasectomy for liver metastasis was done before the Hartmann's procedure in a separate operation. Neoadjuvant therapy included radiation therapy with a dose of 5 × 5 Gy and chemotherapy with 6 cycles of capecitabine, oxaliplatin, and bevacizumab. Since December 2009 JJ-stents were placed for ureteral stricture and functional obstruction with regularly bilateral replacement afterwards. In November 2010, extensive abscess drainage from the Douglas Cavity was needed after occluded ureteral stents with Candida glabrata infection. Furthermore she was diagnosed with Type 2 (noninsulin-dependent) diabetes mellitus and angina pectoris.\nIn January 2011, she presented at the emergency room with intermittent macroscopic hematuria. An irrigation catheter was placed and manual irrigation was continued to remove all clots out of the bladder. Laboratory findings at admission included a hemoglobin level of 7,2 mmol/L and a creatinine level of 370 μmol/L. Ultrasound of the kidney showed bilateral hydronephrosis. One day after admission a cystoscopy and ureteral stent exchange was performed in the operation room because of persistent hematuria and suspected occlusion of the ureteral stents. Removal of the right double-J catheter revealed a pulsatile arterial bleeding from the right ureteral orifice. The ureteral stent was quickly changed and the bleeding subsided. An emergency peroperative hemoglobin was 3,4 mmol/L (norm >7,5 mmol/L). The patient was stabilized and 4 Packed Cells were given at the OR. Open surgery was primarily not considered an option because of the patients extensive abdominal surgical history. At the radiologist intervention department, computed tomography angiography (CTA) was performed for further diagnosis (see ).\nAn active hemorrhage was suspected at the level of the right pyelum and clots were seen in the pyelocaliceal system. Since the patient was hemodynamically stable, it was decided to wait and an expectant policy was agreed. However, in the following night, the patient had gross hematuria again and embolisation of the right kidney was performed with two coils in the right renal artery (see ).\nAfter embolisation, the left ureteral catheter still had to be repositioned in the operating room. A retrograde ureterography showed a ureteroileal fistula (see ). A new ureteral catheter was placed and a abdominal surgeon was consulted regarding the fistula. A conservative approach was advised. Within 24 hour massive hematuria recurred. Hemoglobin level dropped despite Packed Cells transfusion. After questioning our primary diagnosis of bleeding of the right pyelum, a fistula between the (common) iliac artery and the ureter was suspected. An ureterogram failed to visualize the fistula, so did a new CT angiography. However, on clinical grounds ureteral arterial fistula was now highly suspected. An endovascular approach was chosen since open surgical repair would be very difficult in this patient.\nBefore the stent was placed an angiography of the right iliac artery failed to locate the exact position of the UAF. Under general anesthesia, a stent graft (Endurant stent type ENEW1010C80EE) was inserted via the right femoral artery and deployed at the iliac-ureteral conduct. A ureteral stent was in place to help positioning the stent graft. After placement postdilatation was done using a Reliant moulding-balloon. Intraoperative arteriography revealed no endoleakage (see ). Also in the late phase, no leakage of contrast was seen. Hematuria decreased almost instantly after the endovascular stent was placed.\nAfter endovascular stent placement life-long antiplatelet therapy with acetylsalicylic acid was started. Antibiotic treatment was given for a period of 9 days. No prophylactic antibiotic therapy was given. Three months after the endovascular stent procedure a nephrostomy tube was placed in the left kidney because of recurrent ureteral stent occlusion. Four months after embolisation and stent placement the patient is alive with a creatinine blood level of 180 μmol/L. |
A 13 year old female living in a remote rural area came to our clinic with an 8 year history of deformities in the extremities which had gradually became worse till she was unable to walk. The patient over the years had developed recurrent fractures in her legs and arms after minor falls. The family was poor and lived in a remote area far away from proper medical facilities. She was treated by local healers for her fractures which resulted in bowing of legs and arms. There were no gastrointestinal symptoms of abdominal pain or diarrhea. She was brought to the clinic carried by her father. The patient used her arms to drag herself around the house and developed fractures followed by severe bowing of her arms. She had been diagnosed with rickets and iron deficiency anemia by doctors in community hospitals and had received Vitamin D and iron supplements many times without improvement. She had never had a complete workup to find out the cause of her rickets. The patient also had failure to thrive. On examination the patient was pale, weight was 11 kg and height 97 cm (below the 3rd percentile for her age) (Figure ). She had severe bowing of her arms and legs.\nDue to the presence of anemia, failure to thrive and rickets the initial impression was malabsorption probably due to celiac disease and the laboratory work up was done accordingly.\nInitial laboratory investigations that were done are mentioned in Additional file : Table S1. X-rays of her upper and lower limbs showed diffuse osteopenia and bowing of both legs and forearms with blurring of the metaphyseal lines. It also showed dense transverse lines in tibia and ulna suggestive of looser’s zones indicative of severe rickets (Figures and ).Anti- endomysial antibodies titer was 80 (normal is negative), anti-tissue transglutaminase IgA was positive 75 U/ml (normal <2.5 U/ml) and anti-tissue transglutaminase IgG was negative. Upper endoscopy was done with small intestinal biopsy. The duodenum showed scalloping and fissuring of the small bowel suggestive of celiac disease. The histopathology report of the small intestine showed severe villous atrophy grade IV with crypt hyperplasia consistent with celiac disease. Old Marsh-Oberhuber classification: Type 3c: Total villous atrophy with completely flat mucosa and increased intraepithelial lymphocytes (Figure ).\nThe patient was started on a gluten free diet. She also was started on Vitamin D supplements, calcium and iron replacement. The patient returned for follow-up 5 months later, she was feeling better, her weight had increased to 14 kg and her height had increased to 97 cm. She had taken iron and calcium supplements for a very short period but she did continue on a gluten free diet. The family was very poor and on further questioning on their dietary habit, it lacked many of the main constituents and was very low in vitamin D for most of her life but she did live in a very sunny area and before becoming crippled she had adequate sun exposure. Her diet before diagnosis was found to consist mainly of grains and breads with little protein and after being diagnosed and receiving instructions on a gluten free diet it was changed to rice and potatoes. Laboratory investigations showed some improvement from 5 months earlier these are shown in Additional file : Table S1. The patient was seen by an orthopedic surgeon who wanted the general condition of the patient to improve before considering any surgery.\nThe patient and her family were further instructed again on a gluten free diet emphasizing the available options. She was given further iron, calcium and Vitamin D replacement, the patient was not able to come back for follow up but 4 months later the family phoned and said she had markedly improved and had started walking. |
An 80-year-old man was referred to our hospital for syncope caused by severe AS. Twelve years previously, he had undergone CABG that comprised bypass grafting of the left internal thoracic artery (LITA) to the left anterior descending coronary artery (LAD) and of the saphenous vein from the ascending aorta to circumflex branch. He had also undergone pericardiectomy for constrictive pericarditis 10 years prior to the surgery. Unfortunately, the details of the surgical procedure and findings were unknown because the surgery for pericarditis was performed at another hospital. Preoperative computed tomography indicated that the pericardium around the aorta and right-sided left atrial area were almost intact. However, severe adhesion appeared to be present from the anterior to diaphragmatic aspects of the heart. Echocardiography showed severe progressive AS with moderate aortic regurgitation. Other examination data were as follows: aortic valve area of 0.6 cm2, mean trans-aortic valvular pressure gradient of 86 mmHg, bicuspid aortic valve, and left ventricular ejection fraction of 70%. Although the patency of the LITA–LAD graft was confirmed, computed tomography and coronary arteriography showed that the saphenous vein graft was occluded. We discussed the treatment strategy (TAVR or AVR) in a “heart team.” The heart team considered TAVR not to be suitable for his deformed bicuspid aortic valve. We decided to use a right parasternal minimally invasive approach, which is optimal for performing AVR to avoid median sternotomy-related injury, especially to the patent LITA–LAD graft.\nA 7-cm right parasternal incision extending from the inferior edge of the second costal cartilage to the superior edge of the fourth costal cartilage was made (Fig. a). Both the third and fourth costal cartilages were totally excised following exposure of the second and third intercostal spaces by division of the pectoralis major muscle. The right ITA was ligated immediately inferior to the second costal cartilage and immediately superior to the fifth costal cartilage. The intercostal muscles and pleura were incised. The pericardium around the aorta was intact as estimated by computed tomography, and the adhesion around the aorta was less severe than predicted preoperatively. Pericardial stay sutures were placed, providing excellent exposure of the ascending aorta. Next, the ascending aorta was exposed and controlled (Fig. b). Cardiopulmonary bypass (CPB) using the femoral artery and vein was initiated. A left ventricular vent cannula was placed in the right superior pulmonary vein, and then the patient was cooled to 28 °C. Because of severe adhesion around the right atrium, a retrograde catheter could not be inserted. We only injected antegrade cardioplegia solution after the ascending aorta was cross-clamped. Once cardioplegic arrest was obtained, ventricular fibrillation developed. Therefore, we administered 40 meq/L potassium via the CPB to maintain a blood potassium concentration of 8 meq/L. Antegrade cold blood cardioplegia was induced intermittently every 20 min. A 19-mm Mosaic pericardial bioprosthesis (Medtronic, Minneapolis, MN, USA) was implanted (Fig. c). After the patient had been placed in the Trendelenburg position, the aorta was unclamped and de-airing was accomplished through suction on the cardioplegia aortic root needle with flooding of CO2 gas in the operative field. The aortic cross-clamping time was 83 min. A ventricular pacemaker wire was placed in the right ventricle while the CPB was running, and the heart was decompressed. The patient was smoothly separated from CPB. The operation time and CPB time were 348 and 158 min, respectively. Immediately after surgery, the absence of ischemic damage to the myocardium was confirmed based on the serum creatine kinase MB concentration and electrocardiography findings. Echocardiography also showed normal movement of the left ventricle. The postoperative course was uneventful, and the patient was discharged on postoperative day 7. |
The patient was a 35-year-old male presented to the ER with right craniofacial trauma due to an occupational injury caused by falling of a plastic pipe on his head. He was awake and aware at the time of arrival. The initial assessment revealed a GCS level of 14. Signs of traumatic injuries in the right side of his face included swollen eyelids due to trauma to the soft tissue of the right periorbital and frontal area along with right superior eyelid laceration, redness, and tenderness. The visual acuity in his right eye was almost no light perception. Right optic neuropathy was evident with a relative afferent pupillary defect (RAPD) of 4+. The eye movements of the right eye were restricted in all directions, but the other side was normal. Other examinations revealed no further abnormal findings.\nCT-Scan depicted a small focus at the level of the right Sylvian fissure in favor of a pneumocephalus and a hyperdense structure in the right orbital cavity, posterior to the globe, suggestive of a bony material (Figs. , , and ). As we were not sure about the origin and material of hyperdense structure demonstrated on CT-Scan, use of MRI was waived in order to prevent subsequent complications in case of metal object foreign body. However, initial assessments of patient’s images amplified the suspicion of skull base fracture, regarding the foci of pneumocephalus, especially at the region of the right superior orbital wall. Based on these findings, the patient was admitted to the trauma section of the neurosurgery ward and received initial necessary supportive care. Antibiotic therapy was commenced for surgery preparation and preventing probable meningitis, with Cefepime and Vancomycin. A consult with ophthalmologists was performed, and regarding their evaluation, both ophthalmologists and neurosurgeons were agreeing with choosing a craniotomy approach. The procedure was performed by using the method of “extra-dural orbitocranial approach to the anterior cranial fossa” craniotomy. After a right brow skin incision with a soft tissue dissection with four burr holes trephination, a right frontal craniotomy was performed. Then, the roof of the orbital cavity was explored. No signs of fracture were detected in the superior orbital wall. To asses the orbital cavity, a supraorbital craniotomy was carried out, and the surgical field was extended to the right orbital cavity by removing the superior orbital wall, with a diameter of 1.5 × 2.5 cm. An exploration and dissection throughout the intraorbital muscles and structures were accomplished (Figs. , ). An intraorbital foreign body was successfully (a piece of plastic pipe) removed from the orbital cavity (Fig. ). Cranioplasty was carried out by titanium mesh and bone wax with wound closure as well (Fig. ). The patient was transferred to the neurosurgery ward to receive his post-op cares and subsequent follow-ups.\nOn microbiological culture of resected specimen colonies of Staphylococcus epidermidis were isolated which was sensitive to given antibiotics.\nThe patient was febrile, thus antibiotic therapy was continued with Cefepime and Vancomycin for 7 days based on the consult performed by an infectious disease specialist. In the patient’s initial evaluation after the operation, the overall condition was good, and his GCS level was 15. Eye-movements were normal on both sides. Regarding the patient’s visual loss and its effect on his quality of life in order to treat the consequences of traumatic optic neuropathy (TON) both ophthalmologists and neurosurgeons were agreeing with the administration of intravenous methylprednisolone (IVMP) with close monitoring of the patient. The patient received 250 mg methylprednisolone intravenously every 6 h for 3 days. Despite the foreign body removal and administration of high dose IVMP, patient’s visual acuity in his right eye was merely confined to light perception and did not improve, subsequently.\nWe presume that the patient’s vision loss occurred due to direct and high impact trauma to the optic nerve based on the location of the foreign body, which was embedded in the posterior part of the globe, just beside the optic nerve (arrow heads on Figure-3).\nThe patient was discharged from hospital 2 weeks after admission with a good general condition. |
A 55-year-old gentleman, ex-smoker, presented to our hospital complaining of mild epigastric pain, regurgitation, and heartburn. On top of that, he has a long-standing history of gastroesophageal reflux disease (GERD), which was managed by proton pump inhibitors. His past medical history was significant for hypertension. He was previously diagnosed with a liver hemangioma based on abdominal ultrasound two years before the presentation. He had no relevant family history. Physical examination revealed mild epigastric tenderness with no palpable abdominal mass. Laboratory data showed no anemia but positive stool occult blood test. Tumor markers including AFP, CEA, and CA 19-9 were all within normal range. Upper GI endoscopy revealed mild esophagitis, Los Angles grade A along with Barrett's esophagus without dysplasia and a 1 cm polyp at the GEJ. A sample was sent for histopathology; the rest of the stomach and duodenum were normal. The patient did not have a previous endoscopy prior to this one.\nInfused computed tomography (CT) of the abdomen and chest showed mild GEJ thickness with no evidence of mediastinal or celiac lymphadenopathy and no signs of metastasis. It also demonstrated a large heterogeneously enhancing mass about 6 × 9.5 cm with central necrosis in the upper abdomen that appears to be originating from the gastric antrum (greater curve). The mass was highly suggestive of GIST based on CT; it was the same mass that was previously misdiagnosed as a liver hemangioma (). Endoscopic ultrasound confirmed the previous findings. However, no biopsy was attempted due to the risk of bleeding.\nHistopathological examination of the GEJ polyp revealed tubulovillous adenoma with elements of adenocarcinoma in situ. The patient was admitted with a provisional diagnosis of early-stage adenocarcinoma of GEJ along with the incidental finding of enlarging gastric GIST. A trial of endoscopic mucosal resection of GEJ polyp was attempted but failed because of the polyp location that created a technical difficulty. Therefore, the patient was taken to the operating room with a plan to perform a wedge resection of the gastric mass and a submucosal resection of GEJ polyp through the same gastric opening. We planned to use frozen section (FS) to document negative margin resection and determine the need for a formal esophagectomy. Intraoperatively; a large (10 × 7 × 6 cm), extraluminal pedunculated mass was found at the posterior wall of the greater curvature of the stomach (). Wedge resection of the gastric mass with negative margins was achieved along with a transgastric submucosal resection of the GEJ polyp. Fortunately, the FS examination of the polyp showed negative margins as well with no evidence of deep invasion. Postoperatively, the patient had a smooth course and was discharged home in a stable condition. The final pathological examination revealed a GEJ polyp around 1.7 × 1.4 × 0.6 cm. Microscopically, there was a focus of invasive adenocarcinoma involving the superficial submucosa of the polypoid lesion, negative margins, and no lymphovascular invasion (T1a NxM0). Furthermore, the gastric wall mass measured around 10 × 7 × 6 cm with a 2 × 1.5 cm stalk. Histopathology revealed encapsulated high-grade epithelioid GIST tumor with negative margins (pT3). The mitotic rate of 6/50 HPF and immunohistochemical stains were positive for DOG1 and CD34 but negative for CD117 (c-Kit) ().\nThe final diagnosis was synchronous early-stage GEJ adenocarcinoma and a high-grade gastric GIST. Therefore, the patient was started on adjuvant imatinib treatment, along with endoscopic surveillance every six months and proton pump inhibitors. |
A 21-year-old woman with a history of a biopsy-proven sporadic desmoid tumor within the posterior left thigh was referred for MRgFUS therapy. The patient had previously been treated with sulindac and celexocib therapy; however, she palpated interval enlargement and increased firmness of the mass while taking these medications. A repeat MRI was performed demonstrating interval growth of the mass which measured up to 13.5 cm in maximum dimension, increased from 11.5 cm 1 year prior. Referral was made to radiation oncology. However, there was concern for significant left ovarian radiation exposure and risk of infertility. Referral was also made to orthopedic oncology. However, the patient was advised that resection would be associated with a significant risk of recurrence and damage to the adjacent neurovascular structures within the posterior thigh, including the sciatic nerve.\nAt this time, the patient was referred for MRgFUS therapy. The tumor measured up to 24 × 8.6 × 8.5 cm in maximum dimension with pretreatment volume of approximately 730 cm3 and was associated with medial displacement of the sciatic nerve. Her symptoms at this time included limiting tolerance for sitting and difficulty with strenuous activities that relied on use of the left hamstring group.\nMRgFUS of the tumor within the thigh was performed under general anesthesia. The patient was positioned in the left lateral decubitus position in order to minimize the risk to the sciatic nerve. MRgFUS was performed with the same MRgFUS system. Because despite the rapid growth of her tumor, the patient was relatively high-functioning; only the central portion of the tumor was targeted. The procedure was performed with 38 treatment sonications. Enhanced safety measures were used as described in case 1. Total energy per sonication ranged between 1062 and 1911 J with an average of 1539 J. Each individual sonication was 20 s long. Temperature varied between 52 and 77 °C with each sonication. Thermal dose volume was 25.7 cm3. Postcontrast imaging immediately following the treatment demonstrated a relatively low non-perfused volume of the central half of the mass, which measured approximately 30% of the target or 15% of the entire mass (Table ). Review of the sonication data revealed that 20/39 treatment sonications did not definitely reach 60 °C, including 10/39 which did not clearly reach 57 °C based on the MR thermometry sequences. Overall, the average temperature was 60.8 °C following each sonication. Review of the imaging data demonstrated a subtle fascial band in the soft tissues which potentially contributed to poor heating during the treatment. Several sonications did demonstrate heating accumulating along this interface.\nThe patient returned after 6 months for a repeat treatment. The upper half of the tumor was targeted. A slight obliquity of the left lateral decubitus position was used in order to shift the location of the previously noted fascial band. The procedure was performed with the same treatment setup, and 117 treatment sonications were performed. Because the procedure tolerated the first procedure well without any evidence of a skin injury, significantly increased energy was also used compared to the prior treatment with the energy per sonication ranging between 1474 and 6026 J with an average of 3861 J. Thermal dose volume measured 74.3 cm3. There was approximately 70% non-enhancing volume within the targeted superior 1/2 of the mass (where there had been the most interval growth following the prior treatment) (Fig. ). Interestingly, despite the increased non-perfused volume, average temperature was slightly lower in this treatment with an average of 59.0 following each sonication. The patient experienced no complications following either treatment. |
A 32-year-old male was hospitalized in the parent institution in November 2016, due to general symptoms of infection accompanied by pain in the left lumbal region, when duplex collecting system of the left kidney was diagnosed. CT urography, performed during the hospitalization indicated the existence of a duplex pyelocaliceal system of the left kidney with a duplicated ureter, dilation of the pyelocaliceal system of the upper pole of the left kidney grade 4, with the kidney parenchyma reduced to 1 mm, as well as the left ureter dilated (12 mm) and curved throughout its length, with ectopic ostium in prostatic urethra ( and ).\nDuring the hospitalization, the patient was treated conservatively with a positive clinical effect. After the inflammatory parameters were stabilized and the pathogenic microorganism was eliminated from urine, the prophylactic antimicrobial therapy ensued, supplemented by further diagnostic procedures. Renal radionuclide imaging, as an integral part of nuclear medicine, provides substantial information on the actual renal function. Static kidney scintigraphy with Tc99mm (DMSA) indicated the absence of accumulation of radiopharmaceuticals in the upper third of the left kidney, except for the slightly preserved function of cortical activity in the marginal area of the upper pole of the left kidney. Dynamic scintigraphy was performed with Tc99mm (DTPA) and it indicated a lower amplitude of the renal curve above the left kidney (lower functional mass), with a relative left-kidney function of 35.3%, while the relative right-kidney function was 64.7%.The patient was surgically treated at the Urology Clinic of the University Clinical Centre of the Republic of Srpska in Banja Luka, in July 2017. Control Ultrasound examination indicated the existence of a duplex pyelocaliceal system of the left kidney with a duplicated ureter, dilation of the pyelocaliceal system of the upper pole of the left kidney grade 4, with the kidney parenchyma reduced to 1 mm, as well as the dilatation of the left ureter (). Taking into account the clinical perspective, the degree of damage to the renal parenchyma of the upper pole of the left kidney which was not functional, the indication for nephron-sparing surgery was set, that is, for the partial nephrectomy and ureterectomy. Optimal renal perfusion provided by a hydration regimen of approximately 200 mL/h or more of crystalloids overnight was beneficial. Before positioning the patient for lumbar incision, an urethrocystoscopy was performed, detecting no ectopic ureter orifice in prostatic urethra. Afterwards, JJ stent was placed through the orthotropic left orifice, in order to accurately preserve the ureter for the distal two-thirds of the left ureter. After the patient was adequately positioned, a standard left side lumbar approach was performed, which provided excellent and rapid exposure to the kidney and the hilum. Optimal renal exposure is the key to a successful outcome. We identified the renal pedicle and defined the vasculature and ureter. Then, we isolated the renal artery and placed a vascular loop. After that, we excised the hydronephrotic upper pole with sharp dissection and put suture on the edge to ligate any bleeding vessel with 3-0 absorbable sutures with in situ techniques. Then, the ureter was released with blunt and sharp dissection to the distal third of it, as far as possible from the lumbar incision, the ureter was cut and preparations of the resected upper pole of the left kidney were removed continuously from the proximal 2/3 of the ureter. After that, the aspiration of the contents of the unresected distal third of dilated left ureter was performed and ligature was placed on it. The resected surface of the upper pole, approximately max 20x20 mm, was additionally cauterized with argon, covered with the Gerota’s fascia, the drain was placed, and the lumbar incision was closed by layers. The patient had a neat post-surgery course. PH findings indicated that there was a renal parenchymal dysfunction, nephritis interstitial chronica and ureteritic chronica. A control ultrasound performed after six months showed a regular post-surgery finding for the remaining distal two thirds of the left kidney, without the accumulation of fluid in the retroperitoneal space. |
A 3-year-old boy was admitted to a pediatric hospital with a presumptive diagnosis of sepsis, after a two-week history of malaise and poor appetite and a single episode of haemoptysis the previous day. His past medical history was remarkable for a severe staphylococcal pneumonia, for which the child had been intubated and hospitalized for a month. He had been discharged from the hospital in a good clinical condition five months prior to his present admission, with residual large bullae in the left upper lobe. The child had been fully immunized for his age and had otherwise no history of recurrent infections or other clinical indication of immune deficiency.\nDuring the admission to the pediatric hospital, the child clinically deteriorated and underwent endotracheal intubation. Α left chest drain was placed in order to evacuate air and fluid from the left hemithorax, as the chest CT scan was suggestive of pneumothorax and pleural effusion (). The initial laboratory evaluation revealed a while cell count of 11.000/ml and an elevated CRP of 230 mg/L (cutoff, 5 mg/L), while the biochemical profile was normal and four sequential blood cultures eventually showed no growth.\nSubsequently, the child was referred to our tertiary care hospital for surgical management. A left posterolateral thoracotomy was performed via the 5th intercostal space. Intraoperative findings were consistent with extensive empyema deriving from the left upper lobe of the lung. Pleural fluid and splanchnic and parietal pleura samples were collected for cultures. Both lobes were decorticated and mobilized. Thorough haemostasis and aerostasis were performed, and the patient was transferred to the ICU in a stable condition. He was extubated on postoperative day 1.\nPleural fluid and pleura specimens cultured on a Sabouraud dextrose medium confirmed the diagnosis of Aspergillus empyema. A Gram stain of the empyema fluid revealed septate fungal hyphae branching at acute angles of approximately 45° (dichotomous branching), the characteristic of Aspergillus, which the microbiology lab orally communicated as Aspergillus fumigatus but subsequently reported as Aspergillus sp in writing. Blood cultures were negative. Given that Aspergillus was grown by culture of a specimen obtained by a sterile procedure from a normally sterile and clinically and radiologically abnormal site consistent with an infectious disease process, this case fulfils the criteria of a proven invasive aspergillosis []. Galactomannan assays and molecular diagnostic methods were not performed, as they are not available in our hospital.\nA thorough history review after this unexpected finding revealed that the boy had spent a three-week convalescence period at his grandparents' home after his hospitalization for staphylococcal pneumonia 5 months earlier. This home was adjacent to a chicken farm, which we assume to have been the source of heavy Aspergillus colonization of the residual pulmonary bullae due to the child's previous staphylococcal pneumonia.\nAntifungal therapy with intravenous voriconazole monotherapy was initiated postoperatively for 6 weeks. An initial dose of 8 mg/kg IV q12 hr was reduced to 5 mg/kg IV q12 hr, due to an elevation of transaminases (4 times above upper normal value). Although voriconazole blood level monitoring is desirable during the treatment of invasive Aspergillus infections, this was not available in our hospital. We therefore monitored treatment via daily clinical evaluations, serial laboratory tests twice weekly, and chest x-rays fortnightly during the child's hospital stay. Laboratory tests included a full blood count, potassium and magnesium levels, and liver function tests. Other than a residual mild elevation of transaminases (1.5 times above upper normal value), no other undesirable effect was noted. An uneventful recovery ensued, and the boy was discharged to pediatric care on an additional oral voriconazole treatment for 4 weeks (same dosage). The boy remained in an excellent clinical condition during the 1-year follow-up after the end of treatment. |
A 53-year-old woman with a more than 23-year history of chronic indigestion, reflux, abdominal pain and excessive diarrhea, and a more than 21-year history of CD presented to the clinic on December 11, 2017. The patient had no specific medical conditions within her family history. She had no prior history of alcohol consumption and she was a nonsmoker.\nThe patient first experienced symptoms of persistent diarrhea and abdominal pain in 1994. In 1997, she underwent comprehensive testing including stool cultures, gastroscopy, colonoscopy, and small bowel biopsy and numerous blood tests, which ultimately confirmed very active small bowel CD and a small patch of colitis at her terminal ilium, palpable hemorrhoids, lactase deficiency, and shallow duodenal ulcers. Thorough treatment of the duodenal ulcers and a lactose-free diet made no difference to her complaints. Stools were greater than 10 per day without medication and often 1 or 2 at night.\nCD was managed with pharmacologic therapy mesalazine (500 mg Bid Po), prednisone (75 mg Qd Po to induce remission and 5 mg Qd Po as ongoing maintenance dosage), and azathioprine (50 mg Bid Po). Although medication helped the patient to return to work and resume her daily life, the condition was not well controlled. She continued to suffer from blockages and symptoms of pain and vomiting, for which she required frequent hospitalization and in 2005 she underwent a bowel resection. Pharmacologic therapy was continued after surgery and helped to maintain symptom remission; however, the patient continued to experience blockages, accompanied symptoms of pain and vomiting, which occurred on a monthly frequency. As a result, in 2013, the patient received a second bowel resection and repair of strictures.\nFollowing surgery in 2013, pharmacologic therapy was continued to manage the patient's symptoms mesalazine (500 mg Bid Po), prednisone (increased to 100 mg Qd Po to induce remission and 5 mg Qd Po as ongoing maintenance dosage), and azathioprine (increased to 50 mg Tid Po). Due to long-term side effects of the drug, prednisone was stopped in May 2017.\nThe patient presented with chronic indigestion, reflux, abdominal pain characterized by sensation of heat, and excessive diarrhea which caused her discomfort and decreased the quality of her daily life. The symptoms were chronic and were also aggravated by stress. She experienced abdominal pain and diarrhea 5 to 6 times a day. She continued to be managed using pharmacologic therapy azathioprine (50 mg Tid Po) and mesalazine (500 mg Tid Po). At the start of treatment, in addition to her daily regular medication, she was also taking Mylanta (Infirst Healthcare Inc., Westport, CT) (magnesium hydroxide 800 mg, aluminum hydroxide-dried 800 mg), and Gastro-Stop (Aspen Pharmacare Australia Pty Ltd, Victoria, Australia) (loperamide hydrochloride 4 mg Bid Po). The therapeutic effect was nevertheless poor; reflux and indigestion were unable to be relieved, and only minimal reduction was seen in diarrhea. Medication was unable to make apparent improvement to her symptom spectrum or improve quality of life.\nThe patient received acupuncture treatment on December 11, 2017. She was treated with acupuncture at an approximate frequency of once per week for a total of 21 sessions until November 5, 2018. The acupuncture points selected in this case are generally used to treat digestive and gastrointestinal diseases. The patient was in a supine position during acupuncture treatment. After the skin at the site of needle insertion was sterilized, disposable sterilized acupuncture needles were inserted at Ququan (LV 8), Quchi (LI 11), Zhongwan (CV12), Qihai (CV6), Zusanli (ST36), and Sanyinjiao (SP6). All points were needled bilaterally except for CV12, CV6, and LV8 which was needled on the left side. Deqi (the patient's feeling of heaviness and dull aching sensation due to the needles) was obtained at all points. Needles were retained for another 20 minutes without further stimulation. On February 5, 2018, the patient was commenced on granule-form Chinese herbal medicine (CHM) formula Tong Xie Yao Fang for 2 weeks.\nDuring the intervention, the patient did not receive any further treatment from any other clinics or hospitals. In addition to receiving acupuncture treatment she continued taking her regular medications azathioprine (50 mg Tid Po) and mesalazine (500 mg Tid Po), Mylanta (magnesium hydroxide 800 mg, aluminum hydroxide-dried 800 mg), and Gastro-Stop (loperamide hydrochloride 4 mg Bid Po).\nThe therapeutic effect of acupuncture treatment was positive. Over the duration of the treatment period, the patient experienced marked improvement in her symptoms. By March 2018, the patient's symptoms were well managed; flare-ups of diarrhea, indigestion, reflux, and abdominal pain, occurred sporadically, and only due to diet-related factors. From March 2018, patient reported reduction of Gastro-Stop from 2 tablets per day to 1, reduction of abdominal pain and diarrhea from an average of 5 to 6 times a day to an average of 3 times a day. She reported that her symptoms were no longer aggravated during times of stress. She continued to receive acupuncture on a monthly basis from August 13, 2018 until November 5, 2018. At the end of the treatment period she reported 100% resolution in all of her symptoms: chronic indigestion, reflux, abdominal pain, and diarrhea.\nFurthermore, the therapeutic effect of the CHM formula Tong Xie Yao Fang was also positive. The patient reported provided immediate relief of indigestion, reflux, and abdominal pain after taking CHM. She continued to take the formula only on an as-needed basis, whenever she experienced flare-ups of indigestion, reflux, and abdominal pain caused by diet-related factors. |
A 36-year-old pregnant gravida 4 parity 1 woman at 38 weeks of gestation presented to the obstetrics clinic with right upper quadrant pain, uterine cramps, and headache. Obstetric history revealed that she had no definite follow-up or antenatal visits regarding her pregnancy. She only reported a formal clinical examination at 20 weeks of pregnancy in another clinic in which she had a pelvic examination and was told that she was progressing normally. She had a healthy term delivery 14 years ago in which Cesarean section (C/S) was employed due to fetal stress. She also revealed that two years ago she presented to the gastroenterology clinic of another medical facility due to repeated episodes of abdominal pain. The woman had been told that she had a disease involving the liver and the biliary system but she was incompliant and did not pursue her follow-up appointments because she felt better.\nHer physical examination revealed a high arterial blood pressure (160/100 mm Hg) but her other vital signs were normal. No cervical dilatation or effacement was noted in the obstetric examination; however, she had edema and abdominal distention. Uterine tocography showed regular uterine contractions. Laboratory studies showed proteinuria (+1 by stick); biochemistry showed mild to moderate anemia (Hb: 10,3 g/dL), thrombocytopenia (64.5 K/uL), and hypoalbuminemia (2.6 mg/dL). The results of the renal and liver function tests were within normal limits. She was diagnosed with preeclampsia and was started on magnesium sulfate treatment. A crossmatch was undertaken and arrangements were made for prospective blood transfusions. An emergent C/S delivery under general anesthesia was carried out and a 2700 g healthy male infant with Apgar scores of 8 and 9 at 1 min, and 5 min, respectively was delivered.\nThree liters of serous ascites was noted within the abdomen during C/S. Bleeding in the form of oozing from suture sites was detected during uterine closure. Hemostasis was maintained by additional sutures. After ascertaining that the uterine tonus was good; the abdomen was closed and a drainage catheter was left in place. Venous oozing was seen at the site of skin sutures as well. The patient was admitted to the intensive care unit for surveillance in case HELLP syndrome or disseminated intravascular coagulation (DIC) syndrome developed. During the postoperative followup the patient had 30 cc/hour continuous serohemorrhagic oozing from the abdominal drain. The patient was transfused with 1 unit of erythrocyte and the hemograms were stable. The oozing became serous during the second postoperative day and gradually decreased. Her vital signs were stable, but she had thrombocytopenia, anemia, and lymphopenia. On the 3rd postoperative day, the patient developed severe abdominal pain, abdominal distention, and fever. The drain catheter started to discharge ascites. A gastroenterology consultation was requested to determine the ascites etiology. Empirical intravenous (IV) antibiotics (cefoperazone-sulbactam) were started for possible peritonitis. The endoscopic examination revealed grade 2 esophageal varices and portal gastropathy. The patient's previous medical records were requested from the other medical facility and they showed that she had suffered from acute PVT 2 years ago. The ultrasound examination of the abdomen showed widespread ascites within the abdominal cavity, chronic portal vein thrombosis and cavernous transformation, splenomegaly, and gallbladder sludge (). Thrombotic risk profile was negative for factor V Leiden, prothrombin gene G20210A, hyperhomocysteinemia, antithrombin III deficiency, protein C or S deficiency, and antiphospholipid antibodies. Anticoagulation therapy (enoxaparin 6000 anti-Xa IU/0.6 mL/day), diuretics, sodium restriction, and propranolol (a nonselective beta-blocker) were started. The pain gradually disappeared by the third day of treatment and the ascites were under control on the 7th day of treatment. The patient was referred to the gastroenterology clinic for further follow-up and treatment. |
A 71-year-old Japanese woman complaining of epigastric pain came to Hyogo College of Medicine Hospital. Computed tomography showed an intramural cystic tumor having a maximum diameter of 70 mm in the antrum of the stomach (Fig. a). Upper gastrointestinal endoscopy showed an elevated lesion covered with normal mucosa in the gastric antrum (Fig. b), and endoscopic ultrasound-guided fine needle aspiration (EUS-FNA) biopsy and incisional biopsy were performed for the lesion. A large amount of mucinous or pus-like material was discharged from the biopsy site. Histopathological examination of the biopsy specimen only revealed abscess-like inflammatory granulation with mucus (data not shown). Both upper gastrointestinal endoscopy and computed tomography two weeks after the biopsy showed that the lesion decreased in size but remained. There was a possibility that the lesion was intramural gastric abscess of unknown etiology. However, the patient was decided to be underwent tumor resection because it could not be ruled out that the lesion was GIST with cystic change. Laparoscopic distal gastrectomy with Roux-en Y anastomosis was done. During the procedure, gastric antral wall thickening with adhesion to the omentum and transverse mesocolon was observed, but the tumor resection was completely accomplished. Lymph node dissection was not carried out. The patient has no recurrent lesion for 8 months after the surgery.\nResected tissue was fixed in 10% neutral buffered formalin. A slightly elevated lesion (45 × 40 mm) was observed in the gastric antrum (Fig. a). Cut surface of the lesion did not appear clearly cystic but did rather solid, and the lesion seemed to be present mainly in the proper muscular and subserosal layers (Fig. b). Tissues were embedded in paraffin and 3-μm-thick sections were cut. The sections were used for hematoxylin and eosin staining and IHC by detection system of BOND Polymer Refine Detection (Leica Biosystems, Wetzlar, Germany). Histology showed that the gastric intramural lesion was ectopic pancreas measuring 35 × 25 × 17 mm which was located mainly in the proper muscular and subserosal layers (Fig. a, b). The lesion contained all the components of ducts, acini and islets of Langerhans (Heinrich type I), although the acini and islets were rare components (data not shown). IHC showed that the acini were positive for trypsin and the islets were positive for chromogranin, synaptophysin and CD56 (data not shown). Inflammatory granulation with abscess was observed at the superficial portion of the lesion (data not shown).\nMoreover, the lesion contained dilated duct components with tubulo-villous epithelial proliferation (Fig. c) at the deep portion of the lesion consistent with pancreatic IPMN. The covering epithelial cells had atypical nuclei, and the nuclei were not diffusely but rather widely positive for TP53 by IHC (data not shown). Invasive proliferation of the tumor cells was not apparent. Fibrosis was found around and within the lesion. IHC showed that the tumor cells of IPMN component were MUC2- (Fig. d), MUC5AC- (Fig. e) and CDX2-positive (Fig. f) but MUC1- and MUC6-negative (data not shown). Mutational analyses using genomic DNA extracted from histological specimen revealed that the lesion had heterozygous GNAS mutation at codon 201 in exon 8 (Arg201Cys) (Fig. ) but not K-ras mutation at exon 2 and TP53 mutation at exon 5 (data not shown). Thus, the lesion was finally diagnosed as gastric ectopic pancreas accompanied by intestinal type IPMN with high grade dysplasia (non-invasive adenocarcinoma) possessing GNAS mutation (Arg201Cys). The lesion was considered to be completely resected. |
We present the case of a 13-year-old female patient, known with severe visual field loss, who referred for another opinion regarding the ophthalmological diagnosis.\nAnamnesis at presentation revealed that at the age of 9 years and 3 months, on a routine ophthalmological examination, papillary calcification and retinal hemorrhage were discovered in the left eye. At that moment, the suspicion of intracranial calcifications was raised. The patient underwent clinical neurological examination, EEG, and cerebral MRI, all of them revealing a normal aspect. The patient was also recommended fluorescein angiography, which showed papillary autofluorescence. The diagnosis established then was papillary drusen in both eyes, buried in the right eye and mixed in the left eye and the patient was recommended to keep it under observation, together with a periodical examination of the visual field.\nThe patient had had multiple examinations of the visual field over the time.\nThe first visual field examination of the right eye showed an arcuate nasal defect, in the superior nasal quadrant, sketching an aspect of nasal step, structure of the sensitivity defect that in 3 years time evolved into a quadranopsia.\nIn the left eye, the first visual field examination showed inferior nasal quadranopsia, extended superiorly with a nasal arcuate defect respecting 20° centrally, which after three years evolved into a paracentral diffuse defect with an island of central vision of 5°.\nHowever, over the time, the examination of the visual field was made with different types of machines, and no correlation of the modifications could be made objectively.\nThe patient received several different diagnoses from several different ophthalmologists, among which optic nerve drusen; papillary oedema and hamartoma have to be mentioned.\nAt presentation, the patient’s visual acuity was 20/ 20 with correction for the RE and 20/ 20 without correction for the LE, with a refraction ROD: -1 DSf<> -0.75 DCyl, 179* and ROS: +0.50 DSf<>-0.75 DCyl, 167* and a cycloplegic refraction: OD: -0.75 DSf<> -1 DCyl, 168*, OS: +0.75 DSf<> -1 DCyl, 170*.\nThe intraocular pressure was 19 mmHg GAT in the right eye and 13 mmHg GAT in the left eye.\nSlit lamp examination of the anterior segment revealed no pathological changes for both eyes, and the red-discrimination test was also normal.\nFundoscopy presented only with papillary pathological modifications.\nThe optic disc in the right eye was elevated, with relatively clear margins, pink color, and the absence of cupping. At 5 o’clock meridian, a nodular yellow mass, with irregular outline, could be noticed ().\nIn the left eye, the optic disc was also elevated, pale, of irregular outline, and the absence of cupping was noticed. Nodular, yellow, reflective protrusions, with irregular contour and brambleberry shape could be noticed ().\nThe retinal vessels, the macula, and the retinal periphery presented no pathological changes in either of the eyes.\nThe clinical examination suggested the diagnosis of optic nerve drusen in both eyes. B-scan ultrasonography and optical coherence tomography (OCT) examinations were used for the confirmation of the diagnosis.\nB-scan ultrasonography is considered the gold standard method for the detection of optic disc drusen. In this patient’s case, it showed round, hyperechoic structures, observed at the optic nerves of both eyes. The A-scan mode, which was overlapped on the structure only for the left eye, showed hyperreflectivity at the anterior side of the optic nerve, of supraretinal intensity.\nOptical coherence tomography is a useful examination in the assessment of the structure and the anatomical shape of the drusen, and in the analysis of retinal nerve fiber layer (RNFL) and GCL-IPL complex.\nFor patients under 18 years old, however, there is no normative database regarding the normal values of the analyzed parameters, therefore these analyses are useful only for patient’s follow-ups.\nThe OCT scan of the optic nerve showed a prominent aspect of the optic disc, with a lower value of average RNFL thickness in the left eye compared to the right eye ().\nMacula was structurally normal, with an asymmetry of macular thickness, thinner in the left eye, compared to the right eye ().\nThere was also an asymmetry of thickness regarding the GCL-IPL complex, which was thinner in the left eye compared to the right eye ().\nThe investigations confirmed the diagnosis of optic nerve drusen in both eyes.\nThe differential diagnosis in the case of this patient took into consideration the following pathologies:\n• Papilloedema – excluded by B-scan ultrasound;\n• The existence of an intracranial expansive process – excluded by clinical and imagistic examinations;\n• Optic nerve tumors\no Astrocytic hamartoma – the proliferation of astrocytic cells occurs above the optic disc, whereas optic disc drusen is located in the substance of the optic nerve.\no Optic nerve sheath meningioma – excluded by clinical and imagistic examinations.\n• Leber optic neuropathy – it typically presents with severe loss of central vision.\n• Infiltration of the optic nerve (leukemia, lymphoma) – excluded by normal laboratory tests.\nThe patient’s visual field examination at presentation revealed a superior nasal altitudinal scotoma at the right eye (), and at the left eye an important constriction of the visual field, with the preservation of a small 15* island of temporal paracentral vision ().\nThe patient was not recommended any treatment, but only periodical follow-up with visual field examination at every 4-6 months, and annual OCT.\nThe patient came back a year later for follow-up. At examination, there was no progression of the visual field alterations (,), but the intraocular pressure was at the superior level of the normal range, 21 mmHg GAT for the right eye and 20 mmHg GAT for the left eye.\nTherefore, the patient was recommended the treatment with a prostaglandin analogue to prevent the exacerbation of the visual field loss in order to attenuate the mechanical compression on the ganglion cells axons and to improve the blood flow to the optic nerve head. |
A 48-year-old man presented with radiating pain to lower thoracic region for two years. A physical examination was unremarkable and he had no significant past medical history. Plain radiographs of the thoracic spine revealed a lobulated geographic osteolytic lesion with a partially sclerotic border involving the left side of the T10 vertebral body, which continued up to involve the left side of the T9 vertebral body. The T9-10 disk space was narrow, suggesting disease involvement. Also observed was a permeative osteolytic lesion involving the posterior part of the left 10th rib at the costo-vertebral junction, associated with a soft tissue mass (). The radiographic findings of the permeative osteolytic lesion and involvement of more than two bones, raised the possibility of malignancy, particularly the metastatic deposit. A CT scan revealed a well-defined osteolytic lesion with cortical expansion involving the left side of the T10, which continued up through the narrow T9-10 disk, and also involved the left side of the T9 vertebral body. The lesion caused spinal cord compression and involved almost the entire T10 vertebral body, mainly the posterior portion, along with the posterior part of the left 10th rib adjacent to the costo-vertebral junction. The lesion contained multiple internal trabeculations as well as multiple scattered tiny calcifications. The soft tissue component also formed an extrapleural mass posterior to the thoracic aorta (). In this clinical setting, either infectious process, especially tuberculosis which is rather common in Thailand or metastatic deposits was suspected. As a result, tests were performed to identify primary cancer. An ultrasound of the abdomen showed a normal sized liver without evidence of a mass or intrahepatic ductal dilatation. No remarkable finding was revealed after examining the pancreas, spleen, and both kidneys. The patient's PSA level was within normal limits (1.31 ng/L) and a transurethral prostatectomy specimen revealed benign prostatic hyperplasia. A peripheral blood examination revealed the following: WBC 8.2-15 K/UL (4.8-10.8), RBC 2.9-5.2 M/µl (4.2-6.1), neutrophils 30-86% (40-74), eosinophils 23% (0-7), basophils 2% (0-1.5). Excisional biopsies performed on the T9 and T10 vertebrae revealed multiple pieces of bone tissue and grey brown soft tissue (measuring 1.5×0.9×0.4 cm in T9 and 10×5×4.5 cm in T10 in aggregate). Microscopically, the lesion showed a circumscribed lobular lesion made up of a different sized gland-like or tubular structure lined with plump cuboidal cells and occasional hop-nail projections into luminal space. In addition, tall and enlarged endothelial cells imparting so-called 'tombstone-like features' were seen projected into the lumen (). The lesion also illustrated the transition from solid cords to tubules forming lumens containing blood recapitulating vessel-formations. The immunostains of the lining cells showed strong immuno-reactivity for cytokeratin (AE1/AE3) and vascular markers CD31, CD 34, and Factor VIII-related antigen (). As a result the epithelioid hemangioma should be considered as part of the differential diagnoses. A laminectomy and spinal fusion was performed and found that the disease was still stable after three years. |
A 38-year-old man with schizophrenia presented after his second suicide attempt through an overdose with 48 tablets of burotizolam, 42 tablets of haloxazolam and 14 tablets of levomepromazine. The patient's childhood and adolescent development was normal. He was a good student and an active soccer player in high school. His social skills were standard, and he had no family history of mental illness. When he was 23 years old and a fourth year university student, he became convinced that he was being observed and he withdrew from social activities. His parents brought him to a psychiatric hospital, and he was diagnosed with schizophrenia according to DSM-IV-TR (). The prescribed medication worked well and he was able to graduate from university at 27 years old. After graduating, he worked part time in a convenience store or at a nursery for several years. He then started to work at a distribution business under a handicapped employment program. His father committed suicide 3 years before he first presented at our hospital and a friend also died from a sickness. Because his auditory hallucinations repeatedly told him that he was responsible for their deaths, he could not stop blaming himself for their passing, in spite of his mother and brother telling him that he was not responsible. He was pessimistic about his future partly because he was able to earn only a meager income. In order to increase his income, he started a second part-time job at a supermarket in addition to his distribution job. He slept less and felt the accumulation of fatigue. He started to stockpile sleeping medications and he eventually took 76 tablets of brotizolam and 30 tablets of eszopiclone. The next morning his mother found him unconscious and called an ambulance. His mother brought his empty medicine containers to the hospital. At his first presentation, his physical examinations and vital signs were normal. He appeared to be very sleepy, but he managed to speak. The emergency department doctor ordered a blood test, a chest x-ray, an electrocardiogram test, a urine toxicology test, and a computed tomography brain scan. All results were within normal range, except a positive result for benzodiazepine in his urine and a slightly elevated white blood cell count (10.92 × 103/μL). The emergency doctor enlisted a psychiatric doctor to evaluate his mental state. The patient claimed that his auditory hallucinations sounded like someone was booing in addition to radio sounds from a distance. He also claimed he was being tracked by the police. He admitted suicidal ideation and reported that he was sad because he could not die. Because his depressive symptoms occurred 4 weeks prior to his first admission, the authors carefully excluded the possibility of schizoaffective disorder and depressive disorders or bipolar disorder. However, the patient did not show manic symptom or markedly diminished interest, and his depressive thoughts seemed to ease shortly after his admission. Obviously, his mood episodes have been present for a minority of the total duration of the active and residual phases of illness; however, his memory changing delusion and auditory hallucination remains continuously. Furthermore, he showed negative symptom that he had withdrew from social activity except working. The authors diagnosed schizophrenia according to DSM 5 (). His decreased ability to discriminate between his thought and true memories as mentioned previously suggests the presence of disturbance of the self which also supports this diagnosis (). The authors prescribed risperidone 6 mg, brotizolam 0.25 mg, and eszopiclone 2 mg. Soon after the treatment started, he became calm and claimed his suicidal ideation disappeared. However, during the patient's second hospitalization, 6 months later, he admitted that he had lied. He wanted to go home quickly so he pretended to be healthy. He subsequently obtained a distribution job contract for the coming season by himself and he was supposed to be followed by a nearby clinic as a condition of his hospital discharge. He started his distribution job but he could not work regularly. Again, he wanted to earn more money so he started attending lectures to get a healthcare worker license. Consequently, his sleep time was reduced and he started to feel life was troublesome once again. He subsequently overdosed as mentioned previously. The next morning, his mother brought him to the emergency department again. She had no idea when he attempted to commit suicide but she last saw him the previous night at 10 p.m. His mother brought his empty medicine containers. His vital signs were normal, and he managed to speak. The emergency doctor conducted a blood test, a chest x-ray and a computed tomography brain scan. All the results were normal, except an elevated white blood cell count (12.16 × 103/μL), creatine kinase (429 U/L), and chloride (109 mmol/L). His mother brought with her more than 100 risperidone tablets. It became obvious that he had not taken his pills regularly. The authors thought his adherence worsened during his psychotic period and started a long acting injectable antipsychotic (LAI). Because the patient worked regularly, the authors choose an injection given once in a 4-week period. Furthermore, because several studies showed it made significant improvements in the quality of life (), the authors chose aripiprazole LAI at 400 mg. The authors also prescribed 20 mg of suvorexant per day and gradually discontinued brotizolam 0.25 mg and flunitrazepam 2 mg because the authors were concerned about a possible third suicide attempt while using benzodiazepine. Because both of the patient's admissions were associated with poor sleep, the authors examined the patient by polysomnography (PSG) and a multiple sleep latency test (MSLT) to exclude comorbid diseases such as sleep apnea syndrome or restless legs syndrome. As shown in Figure , he woke frequently during his sleep (25.6 times per hour on average as shown in Figure ) and he lived with excessive daytime sleepiness (he fell asleep within 2 min; on four out of five trials during the MSLT, as shown in Figure ). His Apnea-Hypopnea Index (AHI) was slightly elevated (5.1 times/hour), and respiratory events were not associated with significant desaturations (the minimum SpO2 was 95%). His BMI was 19.8. Malocclusion or tonsil swelling was not observed. Figure shows the patient's sleep log. The patient did not show sleep phase advance or delay. The patient's Pittsburgh Sleep Quality Index (PSQI) score was 13, while over 5 points on the PSQI represents insomnia (). Two months after his second admission, he was discharged while being prescribed suvorexant 20 mg, and chlorpromazine 25 mg per day in addition to aripiprazole LAI 400 mg per month. His Brief Psychiatric Rating Scale (BPRS) () dropped form 48 at admission to 42 at discharge. Six months after his second admission, the authors and the patient started CBT-i according to the CBT-i therapeutic manual (). The authors also referred to the four causes cited by Chiu et al. (): (a) beliefs that sleep problems cannot be changed; (b) trauma and adversity; (c) lifestyle choices and lack of motivation; (d) medication side effects and the 12 problems cited by Waite et al. (): (a) Poor sleep environment; (b) Lack of daytime activity; (c) Lack of evening activity; (d) Disrupted circadian rhythm; (e) Sleep as an escape from distressing experiences; (f) Fear of bed; (g) Nightmares; (h) Night-time awakenings; (i) Sleep disrupted by voices/paranoia; (j) Worry; (k) Neuroleptic medication side effects; and (l) Reducing hypnotics. Our CBT-i consisted of eight sessions with each session ranging from 30 to 45 min. The first two sessions were educational sessions that attempted to find disturbances such as a misunderstanding of sleep hygiene or an inadequate sleep environment. In the other six sessions the authors and the patient tried to find other targets to tackle. For instance, the patient tried eating a carbohydrate (banana) before sleep, stopped checking his watch, warmed his body before going to bed, turned off small lights in his room, changed his routine of taking a bath before eating dinner to prevent him from taking a nap after dinner, bought a blackout curtain and an air conditioner. He also tried to wake up early in order to exercise in the morning instead of doing in the middle of the night because he believed he can fall asleep soon after the exercise. The whole course of sleep and psychological tendencies are shown in Figure . The patient's BPRS dropped to 24 and his PSQI dropped to 8. His sleep time increased steadily however, at his sixth session, he claimed that he could not sleep at night and he felt a strong sense of sleepiness during the day. His mental health care team consisted of two physician groups; with one group treating his psychiatric symptoms and the other group (the authors) treating his sleep abnormality. The first physician group increased the patient's chlorpromazine from 25 to 37.5 mg. The authors, as the second physician group treating the patient's sleep abnormality, discussed reducing the patient's chlorpromazine with the first physician group because the authors believed that his sleep troubles were not caused by a difficulty in falling asleep but by the dosage of chlorpromazine being too high for the patient's current ability to fall asleep which was gradually being strengthened by CBT-i. At the seventh session, the authors encountered another misunderstanding of the patient in which the authors believed the patient's headaches were being caused by a lack of sleep, while the patient used chlorpromazine as a painkiller. The authors prescribed acetaminophen 400 mg as a painkiller, and stopped the administration of chlorpromazine. At the eighth session, the patient claimed that he had almost no trouble sleeping except when he forgets to take suvorexant. |
An 81-year-old Japanese male visited our hospital with chief complaints of a palpable mass and dull pain in the left upper quadrant, loss of appetite, and weight loss of 5 kg within two months. He started noticing the mass in the left upper quadrant and the other symptoms in late July 2017. He was admitted to our hospital for detailed examinations and treatment in August 2017.\nHe had high blood pressure and chronic kidney disease. He had a clear sensorium. His body temperature was 36.7 °C. He showed no yellowing of the bulbar conjunctiva, palpebral conjunctival pallor, or abnormal findings in the skin and intraoral mucosa. There was a palpable elastic, soft mass in the left upper quadrant. Although he felt a dull pain in that area, there was no obvious tenderness. There were no palpable superficial lymph nodes nor abnormalities in the extremities. His laboratory findings on admission are shown in Table .\nBecause the results of biochemical tests indicated renal damage, plain abdominal computed tomography (CT) was performed. An irregular tumor of approximately 130 mm × 120 mm × 80 mm in size was observed in the left upper quadrant, which corresponds to the transverse colon. No intestinal distention was observed on the oral side of the tumor. Moreover, the tumor was in close contact with the pancreatic body and tail, and the gastric corpus greater curvature, suggesting invasion into nearby organs. Also, mildly enlarged lymph nodes were observed at the periphery of the tumor (Fig. a and b).\nThe total colonoscopy (TCS) performed six days after his first visit revealed a tumor with a circumferential ulcer covered with a thick slough in the splenic flexure of the transverse colon. Moreover, the marked thickening and inflammatory changes of the surrounding mucosa made it difficult for the endoscope to pass through, although the lesion had not yet developed into an intestinal obstruction (Fig. a and b). Histopathological analysis of several specimens of the tumor was performed, but the findings at that time were only erosion of the mucosa with moderate inflammatory cell infiltration and regenerative changes in the mucosal epithelium. Although a definitive diagnosis was not yet made at that time, we recommended an exploratory laparotomy because of intestinal stenosis. However, he requested a second opinion. While undergoing tests to obtain a second opinion from another hospital, he became aware that the palpable mass decreased in size. Furthermore, a follow-up CT performed after he obtained a second opinion (36 days after the first CT) showed that the tumor had regressed spontaneously and the swelling of small lymph nodes around the tumor had disappeared (Fig. c and d). Therefore, TCS was reperformed 41 days after his first visit to our hospital. The tumor had decreased in size and the inflammatory changes in the surrounding mucosa tended to improve; however, tightening of the surrounding mucosa due to scarring (Fig. a) and the continuous narrowing of the intestine over a length of approximately 30 mm were observed (Fig. b). Histopathological analysis of a biopsy specimen of the periphery of the tumor showed widespread erosion of the mucosa and the formation of granulation tissue with marked infiltration of inflammatory cells consisting of small lymphocytes, plasma cells, histiocytes, and medium-size atypical nucleated cells in the mucosal tissue. Some of the B-lymphocyte antigen CD20-positive B cells (CD20-positive B cells) identified by immunohistochemical analysis were also found to be positive for Epstein–Barr virus (EBV)-encoded small RNA (EBER)-1 by in situ hybridization (ISH), suggesting the high possibility of EBV − positive mucocutaneous ulcer (EBV-MCU) (Fig. a, b, and c). Forty-eight days after his first visit, while he was being prepared exploratory laparotomy, he started to suffer from constipation and intermittent abdominal pain. Because plain abdominal CT revealed intestinal distention on the oral side of the narrowed area in the transverse colon, the patient was diagnosed as having intestinal obstruction and underwent decompression by transanal ileus tube insertion (Fig. e and f). Therefore, although the definitive diagnosis was not yet confirmed histopathologically, transverse colon segmental resection was performed with the patient’s fully informed consent. The resected specimen showed an ulcer of 35 mm × 25 mm in size with narrowing of the intestine (Fig. d). The histopathological analysis of the specimen revealed marked inflammatory cell infiltration and fibrosis in all layers of the colon wall. Most of the infiltrating cells were lymphocytes and plasma cells. Also, Hodgkin and Reed–Sternberg (HRS)-like multinucleated large B cells were found scattered (Fig. e and f). A large proportion of CD20-positive B cells identified by immunohistochemical analysis were also found to be positive for EBER-1 by ISH, similarly to the postoperative immunohistochemistry test. No apparent clonal growth of lymphocytes was shown by the flow cytometry of the resected specimen. No dividing cells were identified by G-banding differential staining. Taking these findings together, he was finally diagnosed as having EBV-MCU. No recurrence was observed 20 months after the surgery. |
A 72-year-old male patient with stomach cancer and S-phase colon cancer received ileostomy along with gastrectomy and proctocolectomy for cancer removal, followed by concentrated observation treatment in the intensive care unit, during which, dyspnea occurred suddenly. After intubation and artificial venting by a respirator, respiration-related symptoms were improved and spontaneous respiration became possible after removing the respirator. However, dysphagia occurred, and he was admitted by the department rehabilitation medicine in the present hospital for comprehensive rehabilitation treatment. Although the patient did not have a past history of high blood pressure or diabetes, he had a history of drinking alcohol 4 times a week and smoking for 40 pack years, and was taking warfarin due to atrial fibrillation. He had a history of receiving percutaneous transluminal coronary angioplasty due to angina pectoris. According to a physical exam, no particular finding was observed other than weakness of the whole body.\nThe patient had received a continuous nutrition supply through total parenteral nutrition for more than 2 months since the first onset, and changed nutrition supply to tube feeding through nasogastric tubing after being hospitalized by the present hospital, followed by continued exercise promoting tongue's posterior movement and laryngeal elevation through occupational therapy. After that, VFSS was conducted to analyze the possibility of oral nutrition, during which, a large quantity of remnant epiglottis vallecula was observed without, however, a finding for aspiration so that nasogastric tubing was removed and oral nutrition was attempted through a compensation technique. Since then, however, there was a complaint of continued dysphagia during eating, and esophagogastroduodenoscope (EGD) examination was conducted through a consultation with the division of gastroenterology for a detailed cause analysis. From the EGD examination, no finding of mechanical closure of esophagus or stomach was observed. For a more accurate diagnosis, esophageal pressure manometry was conducted, which indicated normal findings for both the length of the upper and lower esophagus sphincter muscles or the resting pressure, as well as coordination of the esophagus during swallowing and fluid changes. Following that, VFSS was conducted again and a comparative analysis with the previous study images was made. The result of which led to a judgment that epiglottis was not bent back toward posterior inferior so that foods did not pass to the esophagus, Hence, an intervention was conducted where the epiglottis was physically stretched and spread in the direction of posterior inferior, using a urethral catheter. Intervention involved first implementation of the swallowing test, positioning a 16 F urethral catheter in the epiglottis vallecula, and subsequently expanding the balloon, as well as stretching and spreading of the epiglottis for 1 minute using about 5 mL of a contrast medium for balloon expansion; followed by rest for 10 seconds, which were repeated for a total of 3 times for the treatment (). Thereafter, swallowing test was again conducted to make judgment on the treatment effects (, ).\nSince then, an improvement in dysphagia symptoms was indicated with the ability of eating semisolid foods, and stretching and spreading treatment of the epiglottis was continued with progress observation. In addition, the use of a urethral catheter was accompanied by re-implementation of VFSS once a week. As a result, improvement was made to the extent of being able to eat solid foods, allowing discharge from the hospital. |
In May 2011, a 34-year-old male was treated for an ACL rupture using a hamstring graft fixation associated with a partial internal meniscectomy. The hamstring grafts were fixated using a transfixation system in the femur and a biodegradable screw in the proximal tibia. The patient’s post-operative course was uneventful, and he returned to sports without further difficulties. In July 2014 (3 years and 6 months following the initial operation), a tibial cyst suddenly presented and was first treated conservatively, including physical therapy and non- steroidal anti-inflammatory drugs, until it became symptomatic. There were no signs of clinical or laboratory infection. Magnetic resonance imaging (MRI) showed a 10 mm x 25 mm cyst lesion filled with liquid (). In November 2014, an open excisional biopsy and primary closure surgery were performed at a different medical center. The material was sent to a pathology laboratory and resulted in a “ganglion cyst.” 2 months after surgery, a painful mass recurred over the anteromedial proximal tibia measuring approximately 10 mm x 25 mm. A gelatinous substance was suctioned from the mass, in a sterile environment, consistent with a recurrent ganglion cyst. 40 days following this event, the cyst had reappeared and measured approximately 50 mm χ 40 mm (). At that time, the patient was referred to our hospital.\nThe physical examination revealed a stable knee and a complete range of motion. An approximately 50 mm χ 40 mm palpable mass was evident at the anteromedial proximal tibia. MRI images were consistent with a homogeneous, fluid-filled cyst with a connection toward the tibial tunnel ().\nOn April 2015, a second open resection and an exploratory arthroscopy were performed. The cyst was approached through the previous skin incision. The mass was meticulously dissected, with care not to injure the cyst or its stalk. After the cyst was isolated from the surrounding soft tissue, it was brought back to its original placing at the tibial tunnel. The cyst and stalk were then excised altogether. Once removed, the tunnel showed no evidence of communication with the joint and the walls showed signs of sclerosis. Walls were debrided with a rongeur and curette and filled with bone plugs extracted from the lateral femoral condyle. Graft was impacted, and fascia and subcutaneous tissue were sutured. The pathology report revealed a fibrous tissue capsule compatible with a synovial cyst ().\nThe patient remained asymptomatic for 3 months, but when he returned to sport activities, a painful palpable mass was evident again in the same site. Like previous episodes, no clinical or laboratory parameters of infection were found. The X-ray and MRI revealed a new cyst recurrence, with an increase in the tunnel size compared to the previous episode. Bone blocks were evident within the cyst (). A third surgical intervention was performed. After the cyst was isolated from the surrounding soft tissue, the three bone plugs were found inside the tunnel and extracted, and the tunnel walls were filled with fibrous tissue. A proper debridement was performed with a curette, and the space was filled using a cancellous allograft and a cortical allograft table (). The last follow-up at 18 months postoperative has shown the patient asymptomatic, practicing sports regularly, and from an iconographic point of view (), a good integration of the bone graft both at the cancellous and cortical side. As shown in the MRI images, the ACL has still survived with good signal and without any modification since the first surgery. |
A 21-year-old Ghanaian man presented initially with a 6-year history of progressively worsening pain and swelling in both knee and wrist joints, which moderately affected his activities of daily living. He reported episodes of fever and chills in the past, although these were absent at the time of presentation. He had polyuria, polydipsia, and nocturia but he did not have weight loss, headaches, or loss of vision.\nHe had profuse diaphoresis particularly of his face, hands, and feet but did not have any other symptoms of hyperthyroidism. He had noticed an increase in the size of his hands and feet and a change in his facial appearance which were his main concerns. He had been treated with analgesics in the past, which only transiently relieved his pain.\nThere was no past medical history of diabetes or sickle cell disease. He had been diagnosed as having chronic hepatitis B infection 4 years prior to seeing us but was not on any treatment. There is no family history of diabetes, sickle cell disease, or a presentation similar to his.\nHe is the second of three children of his parents who are both alive; no sibling has any stigmata of PDP. His father has three other children with another woman who have no stigmata of PDP. His mother has one surviving sibling with four children of whom none have stigmata of PDP. His other maternal cousins also do not have any stigmata of PDP.\nHis illness has taken a psychological toll on him because he has been unable to continue his education after secondary school although he excelled in his examinations and got a scholarship to the university. He is usually at home indoors, because of people’s comments about his appearance when he goes out. His older sister has had two suitors renege on their promise to marry her on meeting him for fear the disorder could be familial and be transmitted to their offspring.\nAn examination revealed a young man with coarse facial features, hyperhidrosis, cutis verticis gyrata (Fig. ), pectus excavatum, doughy palms, spade like hands and feet (Fig. ), digital clubbing (Fig. ), and pitting pedal edema at his ankles with profusely diaphoretic hands and feet. There was no cyanosis, jaundice, skin rash, or any stigmata of chronic liver disease. He had visual field defects in the superior temporal quadrant bilaterally on confrontation, mild wasting and weakness of proximal muscles, and an antalgic gait. His cardiorespiratory and abdominal examinations were normal.\nSignificant musculoskeletal findings included massive effusions of both knees with striae of the overlying skin (Fig. ) associated with limited range of movement. There was also evidence of bone expansion at his wrist joints without soft tissue swelling, tenderness, or warmth. There was reduced flexion and extension as well as crepitus at his wrist joints. He also had enlarged proximal interphalangeal (PIP) joints bilaterally with a good handgrip.\nLaboratory tests revealed mild normocytic normochromic anemia with hemoglobin of 10.9 g/dl. However, the following tests were within normal limits: erythrocyte sedimentation rate (ESR), fasting plasma glucose at 5.0 mmol/l, serum insulin-like growth factor 1 (IGF1), liver, renal, thyroid function tests, and serum corrected calcium of 2.32 mmol/L. His serum albumin level was 33 g/L (35–50 g/L). Preliminary investigations for a rheumatological condition such as rheumatoid factor, anticyclic citrullinated peptide (anti-CCP), antinuclear antibody (ANF), and creatinine kinase (CK) were all normal. A chest X-ray, echocardiogram, abdominal ultrasound, pelvic ultrasound, and magnetic resonance imaging (MRI) of his brain were also normal with no pituitary lesion seen; these findings ruled out rheumatological diseases, cardiopulmonary diseases, or acromegaly from a pituitary adenoma as a cause of the clinical features. He has financial constraints as the family is unwilling to support him because he refused to seek alternative treatment.\nArthrocentesis done under aseptic conditions yielded approximately 700 ml of straw colored, normal viscosity aspirate per knee joint. There was residual effusion after this therapeutic and diagnostic aspiration. Gram stain, culture, cytology, cell count, and analysis for crystals were normal with no bacterial growth.\nX-rays of his lower limbs showed periosteal thickening of the medial cortices of both femurs with sparing of the lateral cortices (Fig. ). There was uninterrupted thickening of the periosteum of both lateral and medial cortices of his tibia and fibula (Fig. ). Effusions of both knee joints were noted. The X-rays of his wrist joints, radius, and ulna showed diffuse bilateral symmetric periosteal thickening with marginal irregularities of both ulnae and medial aspects of both radial shafts (Fig. ). There was expansion of the ulna shafts with flaring of both distal radii and a suggestion of cortical thickening in the ulna aspects of the second to fourth digits of both hands (Fig. ).\nThe effusion accumulated rapidly within a week. He was initiated on prednisolone 40 mg daily, which was reduced by 10 mg per week over 6 weeks. He was also given diclofenac 75 mg twice a day and omeprazole 20 mg twice a day over a month. Physiotherapy was started with active and active-assisted exercises of both upper and lower limbs. A bone biopsy was considered but was not done; bone scans or genetic testing were not done either. Three weeks after admission, he was discharged on prednisolone 10 mg which he took until week 4 and was weaned off by week 6. His pain improved but did not resolve completely and he was walking unaided and performing tasks of daily living better than when he was admitted. He is currently on celecoxib 100–200 mg pro re nata (PRN; as needed) and physiotherapy.\nAt a review, 3 weeks after discharge, with his father, we noticed his father had clubbing of his fingers (Fig. ). There were no other symptoms and signs of pulmonary disease or hypertrophic osteoarthropathy in his father. Genetic testing was considered then but this was not available in our hospital and our patient’s father declined the offer to screen him for cardiopulmonary disease with X-rays. The time course of our patient’s illness is shown in Fig. . |
A 46 years old man with end-stage hypertrophic cardiomyopathy and electrical storm underwent urgent orthotopic heart transplantation: the donor was a 54 years old woman, known for diabetes, nicotine consumption, morbid obesity, combined ventilation disorder with restriction due to obesity hypoventilation syndrome and suspected chronic obstructive pulmonary disease, and history of thrombophilia (activated protein C resistance) with recurrent deep vein thrombosis and pulmonary embolism in cerebral death due to brain hemorrhage. Pre-transplant cardiac workup showed a 90% stenosis in the middle right coronary artery (Fig. ), with normal LVEF, and no segmental wall-motion abnormalities or valvulopathy.\nThe technically uneventful transplant was completed with a venous coronary artery bypass graft (CABG) on the right coronary artery (RCA), with a total ischemic time of 191 min. After cross-clamp removal and appropriate induction therapy with methylprednisolone 500 mg IV, the heart showed severe global biventricular failure with severe functional mitral regurgitation. In the absence of preformed donor specific HLA antibodies in favor of an acute humoral rejection, primary graft failure was suspected, and mechanical hemodynamic support was immediately initiated with a central veno-arterial extracorporeal membrane oxygenation (ECMO) and intra-aortic balloon pump (IABP), and high dose of cathecolamines (Noradrenaline up to 30 mcg/min) A relatively low troponin release was observed during the first 24 h post-operative (peak at 2386 ng/l), favoring the hypothesis of myocardial stunning over necrosis.\nA cardiac tamponade on post-operative day 1 led to surgical revision. The intra-operative status was noteworthy for an occlusion of the venous CABG on the RCA. A coronary angiogram was urgently performed in attempt to treat the stenosis in the native vessel. Surprisingly, only a < 50% stenosis could be seen the mid RCA (Fig. ). It was then noticed that the angiogram performed in the donor had not been preceded by the administration of nitroglycerine, which retrospectively spoke for a severe localized vasospasm of the mid RCA at the site of an atherosclerotic plaque. No further intervention was performed and the ECMO could finally be weaned on day 9, after full recovery of the LV function and moderate persistent RV dysfunction.\nIn stable phase, during his fourth post-transplant week at the intermediate care unit, the patient developed sustained ventricular tachycardia at rest, with a heart rate of 150 bpm and no associated hemodynamic instability or even symptoms. Rapid cardioversion was easily achieved with a single administration of 2 mg magnesium sulfate IV. Nevertheless, the immediate post-cardioversion 12-lead ECG and echocardiography respectively showed severe ST-segment elevation in the inferior leads (Fig. and ) with inferior and inferolateral hypokinesia (Additional files , and ). Urgent cardiac catheterization showed a severe localized coronary vasospasm in the proximal RCA (Fig. ), which was rapidly reversed after intracoronary injection of 1 mg isosorbide dinitrate. The ECG and echocardiography quickly normalized after the acute event, without consecutive elevation of troponins. An endomyocardial biopsy excluded an acute cellular or humoral rejection. The patient was treated with diltiazem without further episodes of arrhythmias or ST-segment changes during his hospital stay.\nInterestingly, a few days before this coronary vasospasm, the patient complained from recurrent abdominal pain followed by melena. A colonoscopy showed ulcerations in the distal ileum, correlated with reversible signs of bowel ischemia in two consecutive CT scans, without evidence of occlusion or embolization in the mesenteric vessels. We could speculate that systemic factors in the recipient might favor vasospastic events. Because of a previously reported case of segmental mesenteric ischemia related to mycophenolate mofetil [], this drug was replaced by azathioprine without any further abdominal pain or bleeding episodes. |
A 26-year-old man presented with complaints of blurred vision in his right eye of 1-week duration following blunt ocular trauma. He gave a history of injury sustained to the right side of the face near the cheek and right forehead 10 days before presentation. He was a pillion rider in the motorcycle and due to sudden break application; his face collided with a protruding log loaded in the vehicle which was moving in front of his motorbike. He had two lacerations one near the corner of right eyebrow near the forehead, and one on the skin over the right zygomatic region and they were sutured as first aid measure in local hospital after ruling out other faciomaxillary injuries by specialists there. He gave a history of swelling and inability to open his right eyelid for initial 3 days following injury and history of noticing defective vision in RE on the 4th day on opening the eyelid once the swelling subsided.\nOn examination, the uncorrected visual acuity (UCVA) in his right eye was 20/120 improving to 20/60 with +2DS/−2DC at 40° correction. K reading as measured by autokeratometer and refractometer did not show significant corneal astigmatism. The intraocular pressure in the right eye was 14 mmhg. Cornea showed few pigment deposits on the endothelium, and the rest of the layers were within normal limits. Anterior chamber (AC) was deep and showed cellular reaction of 1+ grade with few pigment dispersions. Lens showed a dense posterior subcapsular cataract [] with an oval defect in the posterior capsule which was confirmed with the help of an anterior segment optical coherence tomography (Visante, Carl Zeiss) []. Gonioscopy and detailed peripheral retinal examination with scleral indentation were done as it was a case of trauma and were within normal limits. Examination of the left eye was within normal limits, and the unaided visual acuity was 20/20.\nThe occupation of the patient, visual expectations, and motivation to remain spectacle free in the future were discussed and considered and after all the risks duly explained to him, the patient was taken up for cataract removal with extended focal length IOL implantation [] after control of inflammation and after waiting for a period of 4 weeks from the time of injury for better fibrosis of PCR edges so that fear of extension of PCR is lesser and In the bag IOL placement can be achieved after a good biometry. Axial length was measured by immersion biometry (24.07 mm) and optical biometry, and K reading was obtained from optical biometer (K1 41.77D/8.08 mm at 55°, K2 42.03D/8.03 mm at 145°, ACD 4.33 mm) and manual keratometer. IOL power calculation was done using SRK T formula, and the appropriate IOL power (SYMFONY +22.0 D) was selected for implantation. A superotemporal triplanar clear corneal incision measuring 2.8 mm was made using a keratome. The side port was made 2 clock hours anticlockwise from the main port, and the AC was entered. The anterior capsule was stained using trypan blue and a 5.5 mm continuous curvilinear capsulorhexis was made using a cystotome. The lens material was removed using high vacuum low flow rate when preexisting PC rupture was clearly viewed, viscoelastic, 2% hydroxypropyl methylcellulose was injected through the side port, and the irrigation-aspiration probe was removed from main port. A trocar AC maintainer was fixed in the AC. Trocar AC maintainer was not placed in the beginning on purpose as it could interfere with rhexis and if turned on, saline flow through it into AC could increase the hydrostatic pressure in AC which could cause further damage to the weak posterior capsule. It was placed as a measure to maintain AC when anterior vitrectomy was commenced. At 0.5 mm from the limbus, an obliquely angled sclerotomy incision was framed; after conjunctival displacement, the trocar was introduced at a 45° angle to the sclera, parallel to the limbus. The trocar was then turned 90° perpendicular to the limbus and directed toward the AC, so the trocar enters the AC in front of the iris tissue. The cannula was flushed to the surface of the sclera, and the trocar was withdrawn, leaving the cannula in place. The infusion line was then attached to the hub of the cannula, and the infusion turned on. The remaining cortex and lens material were removed after anterior vitrectomy using a vitrectomy cutter [].[] As the vitreous disturbance was minimal and the operating surgeon was sure of no residual vitreous in AC after vitrectomy by observing a round pupil and air bubble test in AC, intracameral triamcinolone injection was not done at the end of anterior vitrectomy.\nA single piece extended focal length IOL (Symfony IOL, AMO) was implanted in the bag and centered. Care was taken to place the haptic perpendicular to the PCR. After the removal of the AC maintainer, the main wound and the side port were closed with a single 10-0 nylon suture. The eye had minimal AC reaction and well-secured wound on postoperative day 1 and day 3, the sutures at the main and side port were removed under sterile aseptic precautions. On postoperative day 7, UCVA was 20/20, with near visual acuity of N8 and a well-centered IOL was in situ. The patient remained comfortable throughout the postoperative period. At 6 months of follow-up, the patient visual axis clarity was maintained, no IOL deposits were present which would hamper vision, no evidence of posterior synechiae formation was observed. On follow-up at 12 months, the patient was comfortable with all daily activities including driving with no significant glare or haloes, with normal binocular single vision, the unaided visual acuity was 20/20, and N8 [] and no IOL decentration [] or pseudophakodonesis. |
The patient was a 71-year-old male diagnosed with renal AL amyloid nephrotic syndrome in March of 2007 and underwent a stem cell transplant in December of 2007, obtained an organ response with urinary protein falling from 10.5 g/24 h to 1.5 g/24 h. The patient developed congestive heart failure in July of 2013 and underwent an endomyocardial biopsy that demonstrated amyloid. Proteomic typing demonstrated that this patient had TTR cardiac amyloid, and genetic studies demonstrated the TTR gene to be wild-type, so-called senile cardiac amyloidosis. He died at the age of 79 of progressive heart failure 39 months following the diagnosis of TTR cardiac amyloidosis. Comment: This patient had two types of amyloidosis. He had AL amyloidosis successfully treated and had not relapsed after 9.5 years but subsequently developed age-related cardiac amyloidosis that could have easily been misdiagnosed as relapsing AL if cardiac biopsy and proteomic analysis had not been done.\nOver 15 years ago, it was common to identify amyloid in a patient with a monoclonal gammopathy and assume that this was AL type. However, in 81 patients with TTR amyloidosis, an M protein was found in 20 of the 81 and an abnormal free light chain ratio in 8 of the 81. A second study of wild-type TTR amyloidosis also demonstrated a monoclonal protein in 25% of patients. Finally, even when AL is diagnosed with proteomic analysis, this does not indicate whether the amyloidosis is localized or systemic. Attention must be given, particularly to those patients who present with amyloid in a skin biopsy, bladder biopsy, laryngeal biopsy, or at the edge of a colonic ulcer or polyp, that the amyloid may be a localized AL amyloidosis that requires no intervention.\nMany specialists, when encountering a patient with biopsy of an organ containing amyloid, refer to a cancer care provider uncertain of the type of amyloidosis. The first step for all biopsied tissues, shown in an algorithm (Fig. ), would be mass spectroscopic analysis. In patients with AL amyloidosis, measurement of bone marrow plasma cells and FISH genetics, as would be done in multiple myeloma patients, are indicated. For staging purposes, one needs to know the NT-proBNP, troponin, and the difference between the involved and uninvolved immunoglobulin free light chain. If not already done, echocardiography or magnetic resonance imaging of the heart is required since the extent of cardiac involvement is important for prognosis. For patients with light chain amyloidosis in the absence of symptoms, the role of routine skeletal imaging, as is done in multiple myeloma, is not well defined due to a lack of high quality evidence.\nIf ATTR is identified by mass spectroscopic analysis, this patient should have presented with peripheral neuropathy or cardiomyopathy. The next step in evaluation would be pyrophosphate scanning of the heart (Fig. ). A strong positive scan would suggest that the amyloid is of TTR origin. Any patient with TTR amyloid should have gene sequencing of the TTR gene to distinguish wild-type TTR, as is seen in senile cardiac amyloidosis, from the very rare mutations of TTR that lead to inherited amyloidosis. Since familial amyloidosis is not treated with chemotherapy, these patients should be referred for genetic counseling, consideration of liver transplant, diflunisal or doxycycline therapy, or one of the expanded access programs for agents that suppress translation of liver TTR messenger RNA into the fully-formed TTR protein. Patients with wild-type TTR amyloidosis are usually over the age of 70, 90% are men, and half have carpal tunnel syndrome. Currently, there is no standard of therapy. Although the evidence is weak, trials of diflunisal and doxycycline should be considered (rationale discussed below).\nStaging of AL amyloidosis is based on a four-point system where one point is assigned for a DFLC > 18 mg/dL, a cardiac troponin T > 0.025 mcg/L, or an NT-proBNP ≥ 1800 ng/L. This provides a staging system of I, II, III, IV based on the number of points assigned (0, 1, 2 or 3). The staging system has been validated in multiple datasets, including patients treated with stem cell transplantation, patients on clinical trials, and non-transplant patients treated with standard chemotherapy. Other effective staging systems include a European staging system where Mayo 2004 stage 3 was sub-classified into 3 sub-stages using systolic blood pressure and NT-proBNP at 100 mm Hg and 8500 ng/mL, respectively and a model based on the number of involved organs, creating a 4-stage model (1 organ, 2 organs, 3 organs, 4 or more organs; organ model).\nThe first successful treatment for AL amyloidosis was melphalan and prednisone introduced in 1972. Autologous stem cell transplantation was reported in 1996. High-dose dexamethasone was introduced in 1997. Melphalan and dexamethasone was reported in 2004. There have been multiple reports on the use of thalidomide, lenalidomide, and pomalidomide, as well as combinations of IMIDs with alkylating agents, but IMIDs are poorly tolerated in patients, particularly those with cardiac AL amyloidosis. The first step in assessing therapy for an AL amyloid patient, as shown in an algorithm (Fig. ), is determination of their eligibility for stem cell transplantation. Using transplantation in AL amyloid is theoretically better than it is for multiple myeloma. Unlike multiple myeloma, the tumor mass being treated is less with a median of approximately 10% plasma cells at diagnosis and a median dFLC of only 24 mg/dL. Unfavorable genetics, seen in nearly a quarter of patients with multiple myeloma [such as 1q+, t(4;14), and −17p] are present in <5% of patients with light chain amyloidosis. The proliferative rate of plasma cells is lower in AL amyloidosis patients, suggesting that once a response is obtained, it is likely to be more durable than is seen in multiple myeloma. In fact, in the pre-novel agent era, ten-year survival of patients with AL amyloidosis undergoing stem cell transplantation was 43%. A prospective randomized trial of melphalan and dexamethasone with stem cell transplant also favored stem cell transplantation, although the comparator arm did not contain novel agents. With careful patient selection, the therapy-related mortality has been reduced to approximately 2%. Patients that do not achieve greater than a VGPR can have bortezomib-based consolidation post-transplant, which significantly upgrades treatment response post-transplant. A prospective randomized trial demonstrated an improved survival outcome with bortezomib-dexamethasone prior to stem cell transplant. The current policy at Mayo Clinic is to give induction chemotherapy for patients who have >10% plasma cells prior to proceeding to stem cell transplant (Fig. ).\nEven with the strong preference for autologous stem cell transplant, no more than 25% of newly diagnosed patients are eligible by virtue of age, renal function, and extent of cardiac failure. The remaining 75–80% are candidates for chemotherapy. Melphalan and dexamethasone demonstrates impressive survival in patients that are capable of receiving full-dose therapy with a median survival of just less than 8 years. There have been reports of cyclophosphamide-thalidomide-dexamethasone, lenalidomide-dexamethasone, melphalan-dexamethasone-lenalidomide, cyclophosphamide-lenalidomide-dexamethasone, but none of these are currently used in the Mayo Clinic algorithm due to toxicity and the preference for bortezomib. It should be noted that lenalidomide raises the NT-proBNP in AL patients. CyBorD or VCD (cyclophosphamide-bortezomib-dexamethasone) was first reported to be effective in 2012. In the original iteration, cyclophosphamide was given orally weekly, dexamethasone orally weekly, and bortezomib subcutaneously weekly. In this original trial, 17 patients were treated, 10 with symptomatic cardiac involvement with a 94% response rate and 71% complete response rate with an additional 3 patients who were previously deemed ineligible for stem cell transplant to become eligible. These results were validated in over 230 patients with AL amyloidosis, demonstrating a median survival in excess of six years, with all patients surviving in stage 1 disease and a median survival of less than one year in stage 4 disease. Survival was dependent on response depth, with patients achieving a VGPR or better having the best outcome. Achievement of a VGPR is used in the algorithm to determine whether second-line therapy should be considered. In using bortezomib-based therapy, one needs to be aware that response rate is poor in patients with t(11;14), a genetic abnormality seen in nearly 50% of patients with AL amyloidosis. The presence of t(11;14) should lead one to strongly consider stem cell transplantation over bortezomib, since this genetic abnormality does not have an unfavorable impact in transplanted patients. Predictors of early death after therapy initiation include the Mayo stage and greater than two organs involved. The value of cyclophosphamide when combined with bortezomib remains unproven.\nDaratumumab, approved for the treatment of relapsed multiple myeloma as a single agent as well as in combination with lenalidomide or bortezomib, clearly shows activity in the treatment of patients with AL amyloidosis and appears to have a low-toxicity profile. In 2017, 24 patients with light chain amyloidosis were reported, and only 5 failed to achieve a PR or better; 9 of the 24 achieved a complete response. ClinicalTrials.gov lists two phase 2 trials assessing daratumumab in the treatment of AL amyloidosis (NCT02841033 and NCT02816476). The combination of VCd and daratumumab is also recruiting as a phase 3 trial (NCT03201965).\nBecause of the high prevalence of t(11;14) in AL amyloidosis patients, Venetoclax, which has activity in multiple myeloma, particularly in those with the t(11;14), would be a natural candidate for the treatment of AL amyloidosis. It is given orally three days a week and does not appear to have cardiac toxicity. There is a phase 1 trial underway in patients ClinicalTrials.gov (NCT03000660).\nCarfilzomib, the second-generation proteasome inhibitor, has been tested. A high incidence of cardiac involvement with AL amyloid makes it a challenging agent to use. Traditional pre- and post-hydration can aggravate patients predisposed to congestive heart failure. Carfilzomib is associated with cardiotoxicity in nearly 10% of patients. A review of Medicare admissions presented at the American Society of Hematology showed that carfilzomib-treated patients had a higher risk of hospitalization. Hematologic responses have been reported, but its potential cardiotoxicity may be a barrier for wider implementation of this agent. Ixazomib has been the subject of a phase 2 trial with manageable toxicity and no cardiorespiratory toxicity (NCT01659658). A phase 3 trial of ixazomib-dexamethasone vs. physician-selected standard of care is underway (NCT01864018).\nDiflunisal plays no role in the treatment of AL amyloidosis but may play a role in the treatment of wild-type and mutant TTR amyloidosis by preventing destabilization of the TTR tetramer. A phase 3 trial demonstrated benefit in patients with mutant TTR neuropathy. Given its efficacy, it is a consideration off label for patients with wild-type TTR amyloid and TTR cardiac amyloid.\nDoxycycline has been used in patients with both AL and TTR amyloidosis with cardiac involvement. In vitro, doxycycline appears to disaggregate formed fibrils. A trial from Mayo Clinic demonstrated that patients who achieved a hematologic response to stem cell transplant had a significantly longer overall survival post stem cell transplantation when given doxycycline compared to those receiving penicillin. In a second study, which was case control, 26 patients receiving doxycycline were matched to 50 controls. The response rate was significantly higher in the doxycycline compared to controls, and the 12-month survival was 84 vs. 58%. Although there is no high-quality evidence and it has not been validated in a prospective randomized trial, doxycycline is a consideration if no other therapies are feasible.\nAlthough chemotherapy can effectively reduce the light chain burden and disrupt further deposition of AL amyloid, it does nothing for resident amyloid in tissues. Three monoclonal antibodies are undergoing studies now in patients with light chain amyloidosis that have derived maximal benefit from chemotherapy but have persistent organ dysfunction. The NEOD antibody was administered to a total of 69 patients. Among 14 cardiac evaluable, there were 8 responders. Among 15 renal evaluable, there were 9 responders. The manufacturer discontinued the development of NEOD001 for AL Amyloidosis because the Phase 2b PRONTO study did not meet its primary or secondary endpoints. In addition the Phase 3 VITAL study was discontinued based on futility analysis. The murine monoclonal antibody, 11-1F4, recognizes an amyloid-associated conformational epitope. In 26 patients, 8 were evaluable for organ response and 5 achieved this. No toxicity >grade 3 was recognized. This trial is ongoing. The third antibody approach is targeting serum amyloid P component, which has the potential to disaggregate the amyloid fibril. Pretreatment with Miridesap depletes serum amyloid P so that the antibody dezamizumab can access amyloid in tissues. This antibody may be applicable to all forms of amyloid, not just AL or TTR. It has been demonstrated to reduce the stiffness of the liver, and SAP scanning has shown regression of deposits. Amyloid fibril targeted therapy with monoclonal antibodies is promising for the management of all forms of amyloidosis. Dissolution of amyloid fibrils can improve organ function.\nIn AL amyloidosis, selected patients may successfully undergo renal or cardiac transplantation to assist with organ recovery. For patients that have single-organ involvement and control of the plasma cell proliferative process, organ transplantation may be considered. Stem cell transplantation can be safely performed in patients with dialysis-dependent renal failure. Failure to achieve a complete response is no longer considered a contraindication to organ transplantation because of the increased availability of therapeutic options and direct organ donor programs. Once the patient has an established complete response, consideration of renal transplantation may be undertaken. Cardiac transplantation has also been performed in patients with AL amyloidosis. However, most patients with advanced cardiac AL amyloidosis are not candidates for high-dose therapy and may tolerate standard-dose chemotherapy poorly. In these patients, it may be appropriate to do cardiac allografting and then follow with autologous stem cell transplantation. Long-term survivorship has been reported in highly selected patients who fulfill the criteria of deep hematologic response and single-organ involvement. Lenalidomide therapy is best avoided in organ transplant recipients that are considered for post organ transplant chemotherapy. |
A 11-year-old boy presented with a three-month history of recurrent pain on the right knee with squatting, jumping and swimming breaststroke style. He did not report any trauma. In the last several years, he also complained about recurrent painless “clunks” on both knees especially during squatting. He used to practice martial arts, but he had to stop because of the pain. At physical examination both knees were not swollen and showed a complete and painless range of motion. A “clunk” was audible and it was visible and palpable during active and passive motion. McMurray test was negative. Left knee scored fair and right knee scored poor according to Ikeuchi scale []. X-rays showed squaring of the lateral femoral condyle and hypoplasia of the lateral tibial spine bilaterally (Figure ). MRI revealed bilateral incomplete discoid lateral meniscus with normal medial menisci and open physes (Figure ).\nTo relieve pain and restore function, arthroscopic partial resection of the lateral meniscus of the right knee was performed by the senior author, who is trained in pediatric knee arthroscopy, leaving a functional residual rim of 8 mm (Figure ). Physical therapy was begun immediately with isometric exercises, partial to total weight bearing was allowed as tolerated. The postoperative course was uneventful, after 2 months the patient returned to sports activities without any restriction and was followed-up clinically at 1, 2, 3, 6 and 12 months after surgery and then yearly.\nTwenty-nine months after surgery the patient returned to our clinic for a non-scheduled follow-up visit complaining about the same symptoms as before surgery, again only on the right knee. The onset of the symptoms was subtle and the patient did not report any trauma. In the meantime, he was going through a growth spurt and he had grown about 15 cm since the first surgery. MRI of the right knee showed an incomplete discoid lateral meniscus, with a different signal intensity compared with the original one, and open physis (Figure ). Arthroscopy of the right knee was done again by the same surgeon, confirming the discoid re-growth of the lateral meniscus, with a horizontal tear in the posterior horn. Partial resection was performed again into a functional residual rim of 8 mm (Figure ). After surgery the patient reported complete relief of symptoms. Physical therapy was begun immediately with the same protocol. The patient returned to sports activities without any restriction after 3 months.\nWe are still following-up the patient. At the time this manuscript was submitted he was 15 years old and 18 months had been elapsed since the second operation, and reportedly doing well.\nThere are several issues to consider in the case presented. Why did the lateral meniscus re-grow after surgery? Why did it return to its original incomplete discoid shape? Why was the patient symptomatic only on the right side?\nMenisci in children have an increased vascularity and cellularity that are progressively lost with aging. They can be found throughout the inner parts of the menisci in patients aged 10 to 11 years []. Furthermore, during the growth spurt there may be some influence of growth and maturation of all tissues, including menisci. To the best of our knowledge there are no reports in literature about the vascularization of the inner part of discoid lateral meniscus in children, but we assume it is similar to a normal meniscus of the same age. During the 29 months that elapsed between first and second arthroscopy, our patient had undergone significant physical growth which may have had an impact on meniscal regeneration. One may argue that the surgeon did not resect enough of the meniscus during first arthroscopy. Surgeons treating meniscal lesions in children are concerned about removing too much tissue, because this could promote degenerative osteoarthritis. On the other hand, the aim of surgery in discoid meniscus is to restore its crescent shape. In our patient, the resection performed during the first operation was judged adequate (Figure ) by the performing surgeon who is trained in pediatric knee arthroscopy, also demonstrated by the lack of symptoms referred by the patient during very active sport activities sustained in the period of 29 months between the first and the second arthroscopy.\nThe growth of the patient involves all structures of the knee and likely the lateral menisci. Normally the proportion and the shape of menisci are maintained from the fetal phase to adult age [], but in our patient after surgery the right lateral meniscus re-created the previous condition of an incomplete discoid shape, as this would be its natural shape.\nThere is still debate about the etiology of discoid meniscus. Smillie [] first proposed that this condition is the persistence of the normal stage during fetal development. However, most of the authors believe it is anomalous also during prenatal development, and arises through variant morphogenesis [,]. On the other hand, comparative data favor a phylogenetic origin because it represents, at least in some cases, the persistence of an ancestral character []. We believe that the re-growth of the discoid lateral meniscus in our patient favors the hypothesis of variant morphogenesis. In consideration of this condition, it is also often associated to other musculoskeletal abnormalities [].\nAlso the left lateral meniscus was discoid-shaped, but the patient did not report any complaints on that side. In fact, stable discoid menisci are often an incidental finding and commonly asymptomatic []. |
A previously healthy 35-year-old Hispanic man with a remote history of mild performance anxiety in late adolescence presented to our family medicine residency clinic to establish and seek care for acute onset of anxiety. The patient was a manager at a large manufacturing firm and had received a master’s degree. At the time of presentation, he was married with two children. He had no family history of mental illness and was not taking prescription medications. At his initial visit at the clinic, he reported that 9 days prior, he had taken one dose of “molly” while at a gathering with friends. The friend who had supplied the drug stated that it was “pure crystal MDMA.” According to the patient, this was his first lifetime use of MDMA. He had also consumed several alcoholic drinks that night, reportedly reaching the level of intoxication. He described having a “fine” experience with the drug and returned to his normal baseline for the next 2 days. On the third day after ingesting MDMA, he began to experience an increase in worry and agitation; he reported having panicked thoughts and development of palpitations, blurry vision, flushing, increased thirst, and insomnia. He stated that these symptoms increased over the coming days, prompting him to seek medical care. Regarding substance use history, the patient reported occasional social alcohol use since his early 20s, rarely to excess. He had used cannabis several times while in college (ages 18–22) and found that this precipitated anxiety and therefore he did not continue using it regularly. He denied any regular use of other illicit substances.\nOn the initial day that the patient met with a medical provider in the clinic, he reported a score of 20 (maximum score of 21) on the Generalized Anxiety Disorder 7-item scale [], an anxiety screening and rating tool commonly used in primary care offices. This score was consistent with a severe level of anxiety. The patient was prescribed buspirone, a serotonin 1A receptor (5-HT1A) receptor agonist, with a plan to uptitrate to 15 mg twice daily over the coming weeks. The patient was also referred to the clinic’s behavioral health service for adjunctive treatment and was promptly seen by a behavioral health consultant for their first session the following day. This initial visit involved an assessment of his biopsychosocial history and mood, a functional analysis of his anxiety symptoms, and a collaborative discussion regarding his treatment goals. Using interventions informed by cognitive behavioral therapy, the patient and the behavioral health consultant aimed to increase his coping skills and management of his anxiety symptoms and to improve his overall quality of life (e.g., reduce distress, increase enjoyment at home, and increase productivity at work).\nThe patient was seen for follow-up every 7–10 days by his PCP for the next month (see Table ). Simultaneously, he received behavioral health treatment each week following his first month of medical treatment in the family medicine clinic. He then established a therapeutic relationship with a counselor outside the clinic, where they reportedly engaged in talk therapy weekly. The patient reported only a slight improvement in his anxiety and panic symptoms despite the therapeutic dose buspirone; therefore, he was prescribed a selective serotonin reuptake inhibitor (SSRI) and a benzodiazepine and was referred to the psychiatry department for additional consultation. The consulting psychiatrist was concerned for MDMA-induced anxiety disorder and recommended discontinuation of buspirone and initiation of low-dose sertraline with slow uptitration. The patient benefited from behavioral health treatment specifically aimed at enhancing understanding and controlling the sympathetic nervous system (i.e., cognitive behavioral modeling, psychoeducation on the cycle of panic, and relaxation skill training). Behavioral health treatment was especially important as he awaited the clinical effect of his psychoactive medications.\nOngoing evaluation by the PCP, a consulting psychiatrist, and the behavioral health consultant supported a diagnosis of substance-induced anxiety disorder. He experienced persistent anxiety (reporting daily worry, panic, racing heart, dizziness, restlessness, and catastrophic thinking), and all of his symptoms developed shortly after ingesting a single dose of MDMA. His symptoms caused him significant distress and impairment in his employment as well as his family life. The patient denied clinically significant anxiety directly prior to taking MDMA; his only history of anxiety was performance anxiety many years prior. Therefore, he did not meet criteria for panic disorder or generalized anxiety disorder, because his symptom onset followed substance ingestion. Simultaneously, the patient reported transdiagnostic depressive symptoms, including hopelessness, fatigue, maladaptive thinking, and low mood. These symptoms, which also began following the patient’s use of MDMA, were etiologically attributed to his anxious physiological symptoms and thoughts, in particular the catastrophic and generalized worries that this one-time drug use had “ruined” his life. Consequently, his symptoms appeared to be explained by the substance-induced anxiety, as opposed to representing a discrete depressive disorder.\nThe patient initially tolerated the sertraline well and experienced a relatively rapid improvement in anxiety symptoms while taking 25 mg daily. After 8 days of the 25-mg dose, the dose was increased to 37.5 mg. After 2 days at this dose, the patient developed abrupt onset of suicidal ideation with a resurgence of anxiety and panic symptoms. Given the gravity of these new symptoms, the PCP and behavioral health consultant worked together and with the patient to devise a plan for ongoing care. He was able to see the behavioral health consultant for an urgent visit. The dose of sertraline was reduced to 25 mg, and plans were made for intensive outpatient mental health treatment at a nearby hospital.\nWhile awaiting entrance into that program, his suicidal ideation and anxiety abated. As his symptoms improved, the behavioral health consultant supplemented sympathetic nervous system training with thought identification and cognitive retraining. These interventions served to address his reported catastrophic and demoralizing appraisals following the use of MDMA (e.g., “I am a terrible person for taking that Molly,” and “I have ruined my life forever”). He saw a second psychiatrist for additional recommendations. They concurred with the diagnosis of substance-induced anxiety disorder and the prescribed SSRI treatment. Eventually, the dose of sertraline was slowly increased to 50 mg with continued improvement in all symptoms and no further resurgence of suicidal ideation. The patient’s anxiety and panic were not well controlled until approximately 2.5 months after ingesting MDMA. At 6 months following his presentation, he was doing well with a plan to slowly taper the sertraline. He expressed gratitude for an interdisciplinary team approach and the unique benefits of skills training in tandem with psychopharmacological treatment. |
A 29-year-old Chinese male was admitted to our emergency room presenting with severe pain in the lower right limb, nausea, and vomiting. The patient had a medical history of poliomyelitis. No home medications were taken. Magnetic resonance imaging in local hospital was suggestive of pathological vertebral fracture of T12 and L5. Investigations on admission showed calcium 3.86 mmol/L, serum creatinine 314 μmol/L, urea 21.63 mmol/L and the rest are shown in Table . General status: medium nutrition; clear minded, answering correctly, cooperation during examination. A physical examination revealed the dry skin, tenderness of spinal and surrounding soft tissues. There were no abnormal skin manifestations throughout the body. The patient was diagnosed with the high calcium crisis. We treated the patient with fluid infusion, furosemide, and calcitonin in the emergency. Then we invited the endocrinologist and the hematologist for the consultation. We conducted specialized tests and bone marrow biopsy on him. The laboratory test results are shown in Table . Soon afterwards the patient suffered from recurrent hypercalcemia.\nPET-CT scan was performed in this patient to identify the etiology of multiple bone lesions. PET-CT scan of local hospital revealed high metabolic signal in the upper rectum and multiple bone hypermetabolism lesions throughout the body. Considering the patient's symptoms, physical examination, laboratory tests, and imaging studies, the patient was suspected of bone metastasis of rectal cancer.\nDuring the process of waiting for the results of the bone marrow biopsy, he was accompanied with descendent muscle power of left lower limb and constipation. Physical examination showed limited thoracolumbar activity, tenderness and percussion pain of T8, hypoesthesia below the level of the costal margin, muscle strength II for left lower limb, and muscle strength 0 for right lower limb due to poliomyelitis. The patient was re-examined for the thoracic MRI, and MRI of the thoracic spine disclosed abnormal tissue extending posteriorly in the epidural space displacing the spinal cord (Fig. ). Preoperative preparation of a patient with posterior decompression surgery includes a CBC count, typing and crossmatching of blood, and clotting studies. Laboratory tests suggested that the patient was generally in poor condition. Investigations showed hemoglobin 74 g/L, hematocrit 21%, platelet 67 × 109/L, serum kalium 3.2 mmol/L, calcium 3.29 mmol/L, serum creatinine 179 μmol/L, and urea 11.31 mmol/L. The patient underwent posterior decompression, partial tumor resection, bone cement reconstruction and internal fixation in the emergency room. The surgeons found that the patient's cancellous bone was black during surgery. We considered that the patient might be thought to have a malignant melanoma. The patient was taken to the intensive care unit after surgery.\nAfter transferring to the orthopaedic ward, this patient needed large quantities of platelets as part of treatment with inexplicably decreasing platelets. We had to use a lot of calcitonin to control his refractory hypercalcemia. Besides, we used zoledronic acid injection as a therapeutic alternative in the pain relief for him until his renal function recovered. The patient's hypercalcemia was effectively controlled. The results of bone marrow biopsy (Fig. ) in posterior hematology showed that some bone and bone marrow tissues were infiltrated by a large number of heteromorphic cells. The immunohistochemical stainings showed Melan-A (+), HMB45 (+), s-100 (+), Vimentin (+), and AE1/AE3 (−). Subsequently, metastatic malignant melanoma of T8 was proved by pathology (Fig. ). The muscular strength of left lower limbs had completely recovered. The thoracic X-ray indicated that the internal fixation position was suitable (Fig. ). The patient ultimately went to the oncology department for further treatment. |
A 59-year-old female with a past medical history of obesity (body mass index 51 kg/m2), autoimmune hepatitis, and osteoporosis presented to the emergency department (ED) complaining of right calf pain and swelling. She had no history of previous venous thromboembolic disease. The patient stated that the pain started after watching television for eight continuous hours. The following day, she noted persistent right calf pain. However, she was particularly engaged in national convention coverage and watched television continuously for approximately eight more hours. She recalls that she did not take any breaks from watching the convention; in fact she states she only moved from the chair once to go to the bathroom. After two days of mild throbbing pain and swelling, she decided to have family members drive her to the ED. After obtaining a history from the patient, she disclosed that she was having occasional dizziness and dyspnea on exertion.\nThe patient has a history of immune hepatitis which had been stable for years, treated with Imuran. Her surveillance liver function tests have been within normal limits for a while and she did not need adjustments of her medications. Her other medical history included hiatal hernia, sleep apnea requiring nighttime continuous positive airway pressure (CPAP) machine, and osteoporosis. She had no previous surgeries other than a left wrist surgery 20 years previously. She never smoked and she does not drink alcohol. The family history was notable for Paget's Disease. She denied any family history of thromboembolism, bleeding, or clotting disorders. Other than Imuran and Fosamax, the patient did not take any other medications.\nInitial vital signs showed blood pressure of 115/70 torr, heart rate of 125 beats per minute (bpm), respiratory rate of 18 breaths per minute, and temperature of 97.1 F, with oxygen saturation of 96% on room air. Her pain score was 5/10 and she was anxious. On physical exam, the patient appeared mildly anxious with obvious swelling of her right calf. There was moderate right calf tenderness with +1 pitting edema. Extremity pulses were normal bilaterally. On cardiac examination, there were no murmurs. Breath sounds were diminished bilaterally. Diagnostic studies revealed a significantly elevated d-dimer at 13.28 ug/ml, glucose of 131 mg/dL, BUN of 21 mg/dL, troponin of < 0.02 ng/dL, b-type natriuretic peptide (BNP) of 39 pg/mL, and arterial pH of 7.47 and PaO2 of 74 on room air (RA). Liver function tests were normal, with an alanine aminotransferase (ALT) of 18 units/L and an aspartate aminotransferase (AST) of 25 units/L, consistent with good control of her autoimmune hepatitis. Her international normalized ratio (INR) was 1.0. Ultrasound revealed occlusive thrombus to right popliteal and right posterior tibial vein (see ). A Computed Tomography Angiography (CTA) of the chest was positive for bilateral pulmonary emboli (see ): specifically right upper lobe, right middle lobe, and left lower lobe segmental thrombi. After two liters of intravenous (IV) 0.9% normal saline, her heart rate came down to 91 bpm. Anticoagulation was initiated in the ER with IV heparin. She had a 2D echocardiogram that revealed mild right ventricular dysfunction, mild tricuspid regurgitation, and an elevated pulmonary artery pressure of 25–30 mmHg at rest. The pulmonary/critical team was consulted and given that the patient had normal troponin, BNP, and oxygenation on RA, thrombolytics were withheld. Additionally, the patient's tachycardia improved with IV fluids.\nIt is uncertain, however, whether the evidence of mild right heart strain was acutely due to the pulmonary emboli or if these findings were chronic and due to the patient's body habitus and sleep apnea. Her general stability and response to IV fluids would suggest the latter.\nThe patient was hemodynamically stable upon leaving the emergency department for the Intensive Care Unit (ICU). She was transitioned over to a novel anticoagulant rivaroxaban the following day (hospital day number 1) and was discharged home three days later without complications. |
A 65-year-old woman with gallbladder cancer was referred to our hospital for surgery. The laboratory examination revealed obstructive jaundice and cholangitis. Computed tomography (CT) showed gallbladder cancer involving the hepatic hilum, including the portal bifurcation. Preoperative cholangitis developed several times, and the endoscopic biliary stent was exchanged three times. The indocyanine green clearance was 0.113. The estimated volume of the future liver remnant was 507 mL and 31%. Percutaneous transhepatic portal embolization of the right portal vein was performed. Two months later, right hepatectomy, extrahepatic duct resection, and portal vein resection were performed (Fig. ). The left hepatic artery (LHA) was carefully exfoliated to the threshold of the hepatic parenchyma, but the bifurcation of the LHA to the segment 2 artery (A2) plus the segment 3 artery (A3) and segment 4 artery (A4) was not dissected; the tissue surrounding the LHA was difficult to dissect due to the inflammation wrought by preoperative cholangitis. Histological examination of the tumor showed moderately differentiated adenocarcinoma (pathological T4bN1M0, stage IV according to the Union for International Cancer Control classification of malignant tumors, 7th edition []).\nPostoperative blood examination showed slight elevation of liver enzymes and total bilirubin, and the patient had an uneventful postoperative course without liver failure or bile leakage. Screening CT on postoperative day (POD) 6 revealed a pseudoaneurysm of the LHA with a diameter of 6 mm (Fig. ). Angiography showed that the sac-like pseudoaneurysm was located on the bifurcation of the LHA to A2 plus A3 and A4 (Fig. ). Stent placement in the LHA or selective embolization of the pseudoaneurysm was considered for treatment. However, it seemed difficult to place the arterial stent because the LHA was too narrow and the pseudoaneurysm was located very close to the arterial bifurcation. We also hesitated to perform selective embolization because of the higher risk of migration of embolus material to the LHA. Therefore, we carefully followed up the pseudoaneurysm. However, CT on POD 15 showed enlargement of the pseudoaneurysm to a diameter of 10 mm; therefore, we decided to embolize the pseudoaneurysm to prevent rupture (Fig. ). As a cautionary measure, portal vein arterialization (arterioportal shunting) was planned to maintain the oxygen level of the remnant liver, even if the LHA was occluded by migration of the embolus material. The arterioportal shunt was constructed by anastomosing the ileocecal artery and vein under general anesthesia on POD 15 (Fig. ). Next day (POD 16), embolization of the pseudoaneurysm was successfully performed by selective injection of liquid thrombin without occlusion of the LHA (Fig. a). The postoperative blood data were within normal limits. Refractory ascites (3 L/day) developed thereafter, and portal hypertension was suspected as the major cause of the uncontrollable ascites. Twenty-one days later (POD 37), re-angiography confirmed complete embolization of the pseudoaneurysm and the patency of the LHA (Fig. b). Coil embolization of the arterioportal shunt was then successfully performed. The ascites was rapidly resolved and the patient was discharged on POD 45. |
A 36-year-old woman with 21 weeks of pregnancy was admitted to our hospital for a left renal tumor, which was incidentally detected by ultrasonography in a routine pregnancy examination. Ultrasound showed a confounding echo mass in the middle part of the left kidney, 7.9 cm in size, uneven internal echo, and clear blood flow signal inside. Computed tomography (CT) was not performed, as she was pregnant. Abdominal magnetic resonance imaging (MRI) showed a round mass in the middle part of the left kidney with a maximum diameter of 8.3 cm (). The signal is heterogeneous, with some fluid visible inside the mass. Since angiomyolipoma usually shows hyperechoic rather than confounding echo in ultrasound, renal cancer was considered. The patient denied lower back pain, hematuria, fever, frequency of urination, urgency, pain, and other discomforts. Past medical history was unremarkable. The patient gave birth to a healthy girl 5 years ago. Personal history and family history were not remarkable. After admission, there were no abnormalities in vital signs, blood pressure was 130/80 mmHg, blood routine and biochemical examinations were within the normal range (hemoglobin was 114 g/L, serum creatinine was 47 μmol/L, and potassium was 3.7 mmol/L). Physical examination: There was no tenderness or muscle tension in the abdomen, and the mass was not touched.\nA multidisciplinary team including urologists, gynecologists, pediatrists, anesthesiologists, and radiologists was responsible for the decision making to help the patient and her baby. Considering that the patient is only 36 years old, her strong desire to remove the tumor as well as retain the kidney, and the relatively indolent nature of the RCC, retroperitoneal laparoscopic partial nephrectomy was performed by an experienced surgeon after the risk was explained and informed consent was signed.\nDuring the procedure, the patient was placed in the lateral flank position and underwent general anesthesia with endotracheal intubation. The procedure was performed through a retroperitoneal approach, and the retroperitoneal cavity was formed by blunt dissection and balloon dilation from a small incision located 2 cm above the iliac crest of the midaxillary line. After the establishment of the retroperitoneal space, four trocars were inserted on the left waist between the superior edge of the iliac spine and the inferior border of the rib. The tumor was removed completely, and renal reconstruction was then achieved with a 1/0 self-retaining barbed suture (V-Loc). Although maternal hemodynamic parameters were maintained stable and end-tidal CO2 was monitored below 35 mmHg, pneumoperitoneum pressure was strictly controlled below 12 mmHg to reduce maternal hypercapnia and fetal acidosis throughout the surgery. The operation time was 100 min with a warm ischemia time of 28 min and an estimated blood loss of 150 ml. The patient recovered uneventfully after the operation and was discharged within a week after the surgery. Blood hemoglobin was decreased postoperatively [95 g/L on postoperative day (POD) 1, 99 g/L on POD3] and back to normal on POD7 (121 g/L), while serum creatinine levels were normal throughout the perioperative period (66 μmol/L on POD1, 61 μmol/L on POD3, and 60 μmol/L on POD7). Obstetrics and gynecology consultation monitored the fetus before and throughout the operation.\nThe pathology report revealed an 8.2-cm clear RCC, Fuhrman grade 2, with negative surgical margins (). According to the TNM classification system, it is classified as pT2aN0M0. During the 38th gestational week, a healthy male infant was born. We followed our patient every half year after surgery. Blood hemoglobin, serum creatinine, and thorax–abdominal–pelvic CT scan showed normochromic, normal renal function, and no sign of local recurrence or metastases. After 46 months of follow-up, the patient's baby is in good health and does not have any developmental birth defects. The whole treatment process is shown in . |
The patient is a 71-year old man of Swedish ethnicity without family history of thyroid related diseases. Previous medical conditions include paroxysmal atrial fibrillations, hypertension, a cerebrovascular lesion and malignant melanoma. In 2018, the patient was hospitalized for a minor trauma, and a CT scan of the thorax fortuitously visualized a thyroid lesion, measuring 50 mm. The patient was clinically euthyroid. A cytological fine needle aspiration (FNA) biopsy was performed, and the diagnosis was consistent with a follicular neoplasm, Bethesda IV, with a low proliferation count of 2% as determined by a cytological Ki-67 index. Following a retrospective evaluation, subsets of cells displayed suggestive nuclear marginalization, but no clear-cut signet ring cell appearance was noted (Fig. a). The patient was referred to our department, and ultrasonographic examination of the neck revealed a 42 mm, partly cystic nodule in the caudal aspects of the left thyroid lobe. The patient underwent a diagnostic thyroidal lobectomy in September the same year.\nThe left thyroid lobe measured 70 × 50 × 30 mm and displayed a weight of 50 g. At gross examination, a demarcated and encapsulated lesion measuring 38 × 30 × 36 mm with a tan cut surface, focal hemorrhages and a central cystic clearing of 25 mm was observed (Fig. b). Histological examination revealed a circumscribed lesion consisting of sparsely to densely cellular areas against a background of a fibrous and hemorrhagic stroma. The cells were growing in a predominant micro-follicular pattern, and exhibited enlarged, oval to irregularly shaped nuclei with a finely dispersed chromatin and prominent nucleolus. No nuclear features suggestive of papillary thyroid carcinoma were seen. In the majority of cells, the cytoplasm was observed with a balloon-like vacuolized dilation with an accompanied marginalization of the nucleus, corresponding to signet ring cell morphology (Fig. c). No mucinous deposits in the surrounding stroma were seen. Tumor necrosis was not present, and the mitotic count was not elevated. Several areas with capsular invasion were noted, but no focus with vascular invasion was observed (Fig. d).\nThe tumor cells were positive for cytokeratin MNF116, cytokeratin 7, TTF1, PAX8 and thyroglobulin (Fig. e-g, Table ). A subset of the vacuoles stained positive for thyroglobulin but were negative for periodic-acid-schiff (PAS) and PAS-diastase stains (Fig. h). MUC5Ac was seen with focal and weak positive staining, but in similar intensities as the surrounding normal thyroid tissues. The tumor cells were negative for cytokeratin 20, CDX2, calcitonin, PTH, MUC2, MUC4, MUC6 and mucicarmine. The Ki-67-index was 4%. Differential diagnoses such as medullary thyroid carcinoma, metastatic signet ring cell carcinoma of the GI tract, parathyroid carcinoma, primary mucinous carcinoma and mammary analog secretory carcinoma were ruled out.\nThe diagnosis was consistent with a minimally invasive follicular thyroid carcinoma with signet ring cell morphology according to the WHO 2017 classification of endocrine tumors []. The tumor was excised with negative margins, and no extrathyroidal extension was seen. The pTNM stage was pT2Nx (Table ). Cytological re-investigation of the preoperative FNA biopsy material did pinpoint scarce subsets of tumor cells exhibiting a tendency of nuclear marginalization, but noticeably no clear-cut signet ring cell phenotypes.\nUsing next-generation sequencing (NGS) analysis, no somatic hotspot mutations were found among the 22 genes analyzed, and the tumor was wildtype for both positions C228 and C250 of the TERT promoter. However, two fairly common intronic single nucleotide polymorphisms (SNPs) were detected, one in DDR2 and one in SMAD4, both predicted to be non-deleterious using a panel of in silico prediction software (Table ). Moreover, using real-time PCR, no ETV6-NTRK3 fusion transcripts were detected (data not shown).\nThe patient was discussed at a tumor board conference and was planned for a right-sided completion lobectomy and subsequently radioiodine ablation (RAI) with a total dose of 1,1 G-Becquerel (GBq). The right thyroid lobe displayed a physiological C cell hyperplasia, but no tumors. |
A previously healthy 60-year-old male was referred to the outpatient clinic due to atrial fibrillation. The patient reported pain in the lower left leg for 3 weeks followed by right-sided chest pain and dyspnea for 2 weeks. Transthoracic echocardiography (TTE) revealed a dilated right atrium (RA) with a large longitudinal thrombus (1–1.5 cm × 15–20 cm) fluctuating through the tricuspid valve (). The patient was stable and had no signs of right or left ventricular strain. Treatment with rivaroxaban 15 mg × 2 was initiated, and he was admitted to our center with suspected multilevel VTE: deep venous thrombosis (DVT), RA thrombus, and acute pulmonary embolism (PE). Computed tomography confirmed PE in the lower right pulmonary artery with associated pleural effusion. TTE and transesophageal echocardiography (TEE) confirmed the RA thrombus. Ultrasound revealed a large DVT in the left femoral vein stretching from the popliteal to the iliac vein. The patient was switched from rivaroxaban to unfractionated heparin (UFH) 5000 IE bolus followed by infusion starting at 1000 IE/hour and monitored by APTT. APPT remained in the lower range (maximum 77) treatment despite increasing doses of UFH to a maximum dose of 1900 IE/hour. After 3 days of UFH treatment, there was no regression of RA thrombus on TTE. The thrombus appeared to be attached in a thin fibrotic pedicle to the area between the superior vena cava and RA (). No persistent foramen ovale or atrial septal defect was found. Due to the large size and thin attachment, the risk of a possibly fatal PE was considered significant. As there were no regression in thrombus despite 7 days of anticoagulation treatment, it was decided to refer the patient for catheter-based embolectomy using the AngioVac system.\nPreprocedural planning included a new ultrasound of the lower extremities that confirmed regression of thrombus in the lower veins bilaterally. This allowed for a femoral venous-venous access. The procedure was performed in a hybrid suite with a multidisciplinary team from interventional cardiology and thoracic surgery enabling fast conversion to extracorporeal circulation and surgical embolectomy if needed. The patient was placed in general anesthesia, and the procedure was guided by fluoroscopy and continuous TEE. A 26F dry-seal sheath (Gore Medical®) was placed in the right femoral vein to accommodate the AngioVac cannula and an 18F reinfusion cannula in the left femoral vein. A venous sheath was placed in the left external jugular vein to allow for conversion to a jugular approach, insertion of an adjunctive catheter, or a temporary v. cava filter if needed. Furthermore, a 6F sheath was placed in the right femoral artery allowing easy conversion to venous-arterial bypass.\nThe catheter was placed in the inferior vena cava. The funnel-shaped tip was then opened, and the centrifugal pump started. Using a flow of 3.5 L/min, the catheter was slowly moved towards the RA, and part of the thrombus was sucked into the tip. The solid thrombus occluded the catheter and stopped the flow completely. With the vacuum maintained, the occluded catheter was removed from the patient, and the thrombus was removed from the catheter (). The catheter was reintroduced to the RA, and this time thrombus material was sucked out and into the filter (). A small thrombus of 5 × 8 mm remained attached despite significant suction (). Sheaths were removed and venous access closed by percutaneous suture and the arterial access by Angio-Seal®. The thrombus fragments removed by the procedure measured a total of 15 × 1 cm and consisted of heterogeneous solid older thrombus material (\n), which was confirmed by the pathologist after the procedure.\nThe patient recovered well after the procedure. He was treated with low molecular weight heparin (7500 IEx2) and was discharged 7 days postprocedure to follow-up in the outpatient PE clinic. |
A 52-year-old male was admitted to the outpatient clinic of the department of internal medicine with the complaints of progressively increasing dyspnea and swelling of the body during the last three months. The patient had variceal enlargements of the veins from the time of birth and his left leg was thicker than the right one, but he did not have a certain diagnosis. The family history was negative. The pathological findings on physical examination at the time of diagnosis were diffuse edema in the body, decreased lung sounds at the right basal site, increased diameter and decreased length of the left leg compared with the right one, diffuse variceal enlargements, and a few hemangiomatosis lesions on the left leg (). The pathological laboratory findings were as follows: serum albumin: 2.2 g/dL, total cholesterol: 216 mg/dL, LDL cholesterol: 152 mg/dL, creatinine: 1.23 mg/dL, and proteinuria: 7.6 g/day. Urine sediment was inactive. The abdominal ultrasonography revealed a cystic lesion of 7 × 4.5 cm diameters in the liver with thin septations and dense content in some areas; splenomegaly (133 mm), a solid lesion resembling hemangioma measured 3 × 2.5 cm at the lower pole of the spleen; and multiple anechoic cysts measured at most 2 cm at the upper pole of the spleen. The sizes of the kidneys were normal, while the echogenicity was increased. There were one cortical cyst (2.5 cm) in the upper pole of the right kidney and two cysts (the bigger one measured 6 cm in diameter) in the upper pole of the left kidney. Dynamic magnetic resonance imaging of the abdomen with intravenous contrast material showed a cystic lesion measured 53 × 47 mm with peripheral capsular contrast involvement in the segment 4a-7 of the liver and nodular lesions consistent with hemangiomas in segments 7-8 and 4A of the liver. There were also splenomegaly (136 mm), heterogeneity of the splenic parenchyma, and multiple lesions resembling hemangiomas measuring 25 mm at most in the spleen. There were simple cortical cysts in the kidneys, one in the upper pole of the right kidney (27 mm) and two in the upper pole of the left kidney (the bigger one measuring 6 mm). The radiologists reported bilateral pleural effusion reaching 15 mm of thickness on the right side and AV malformation on the left posterolateral thigh that fills the mesorectum and hypertrophy of the soft tissues of the proximal left lower extremity.\nHe was diagnosed to have KTWS putting together the hemihypertrophy, diffuse variceal enlargements of the veins, and AV malformations detected radiologically. Gastroscopic examination was normal, while colonoscopy revealed diffuse blue-purple variceal enlargements on the rectal mucosa (hemangioma) and a polyp in the rectum with a diameter of 1 cm. The rectal mucosa was bluish purple from the 10th cm to 20th cm (hemangioma) ().\nHe was transferred to the nephrology clinic for evaluation of the cause of nephrotic syndrome. Paleness of the temporal regions and increased deepness of the optic hollow were detected at eye examination. Hepatitis serology, antineutrophil cytoplasmic antibody, and antinuclear antibody were negative. Complement levels were within normal limits. Renal biopsy was performed to determine the cause of nephrotic syndrome. Of the 13 glomeruli detected, five were globally sclerotic while another five had segmental sclerosis. There was prominent mesangial enlargement in other glomeruli together with patchy atrophy of tubuli, interstitial fibrosis, mild mononuclear cellular infiltration, and thickened arteriolar walls (). No accumulation was detected with examination by immune fluorescence techniques. Electron microscopic examination was not available. With these findings, he was diagnosed as focal segmental sclerosis (FSGS). He was started on oral methylprednisolone at the dosage of 1 mg/kg and began to be followed up in the nephrology outpatient clinic. It was learned that he was admitted to the emergency clinic of another hospital due to profuse rectal bleeding at the end of the third week of steroid treatment. The steroid treatment was terminated at that time. Proteinuria was measured as 5.2 g/day and serum creatinine was 2.1 mg/dL. He is still under follow-up with conservative treatment. |
An 8-year-old girl, studying in second grade was brought by parents with complaints of fear of vomiting and feeling nauseated since about seven and half months. Around 20 days before the starting of symptoms, child had episode of acute and severe abdominal pain, high grade fever with 3 bouts of vomiting with nausea for a day. She was diagnosed as having acute appendicitis by a surgeon and was operated subsequently. Within around 10 days after operation, patient started having fear of similar episode of vomiting with repeated remembrance of the episode. She complained of feeling nauseated with excessive salivation and gastric regurgitation. The treating doctor did not find anything significant and was treated symptomatically. Parents were reassured about the symptoms. She started attending her classes but gradually her complaints increased. She had constant thoughts of feeling nauseated. She started eating less, avoiding outside food which she used to ask for previously. She would worry about the pungent smell of vomitus in toilet and ask mother to clean it frequently. The fear increased slowly to the extent that, she started avoiding playing with other children in a fear that they will avoid her and tease her if she vomited in front of them. She avoided school for the same reason and thought that teachers will have bad impression about her if she vomits in the classroom. Meanwhile, parents asked their close relatives to console her. But symptoms went on increasing and she started refusing to use a lift, travel in bus, going to park, market places, etc., Fear became generalized and patient started worrying that her parent may suffer vomiting, she would request parents not to go outside, not to travel in bus or use lifts. Her father was working in a different city and job required frequent traveling. She had persistent fear that he may suffer vomiting as he eats outside food and there is no one to take care of him. She would call him repeatedly on phone and ask to change his job. She also developed reduced and non-refreshing sleep with constant thoughts/worries about vomiting at night with complaints of nausea and regurgitation after having her dinner. History of occasional nocturnal enuresis was also present during this period.\nShe was referred for a psychiatric consultation. She refused separate interview of parents because of the fear that they will hide the illness from her. She elaborated all the complaints and said “I feel nauseated even when I hear a word ‘vomitus’ or ‘vomiting’ or if I see anybody vomiting”. She elaborated the incidence when she vomited after witnessing the same in the neighborhood. Besides this, there was no history of depressive or obsessive-compulsive features or eating disorder and no symptoms suggestive of other phobias. Past history was not significant. There was significant family history and both of her parents are suffering from anxiety disorder and taking regular treatment from a psychiatrist. Birth and developmental history did not reveal any significant abnormality. She was good in academics.\nOn mental status examination, patient described her mood as anxious with appropriate affect. In thought, there was preoccupation about the worries of having nausea and vomiting along with number of questions e.g., whether I will get better; Do I have some severe illness; Will your medicines have side effect of vomiting, etc., She was diagnosed as a case of Specific Phobia of Vomiting i.e., Emetophobia.\nAs it was very difficult to involve the child in counseling or psychotherapy because of severe anxiety, she was prescribed tablet Clobazam 5 mg in divided doses and Cap Fluoxetine 10 mg. She was admitted to a child unit to reassure her as she was not willing to take medicines due to fear of side effects. After a week, she and her parents perceived mild improvement in anxiety and she was somewhat comfortable. On further follow-up, child was taught relaxation and started on Graded Exposure therapy along with the medications. She was exposed to the materials or activities related to vomiting. First, she was asked to read hand written article which contained the word ‘vomitus/vomiting’ (multiple times) as many times as possible. After about a week, she was asked to witness the action of vomiting by parents which they were pretending, followed by behavior as if vomiting has caused no trouble and anyone can suffer it for a short duration. After around 15 days, she was advised to attend school with a facility to go to rest room whenever she has thoughts of vomiting followed by feeling of nausea. She used the rest room only for initial 2 days after which she was as regular to the classes as before the start of illness. She was asked to play with other children only for 15 minutes to begin with. This time was increased slowly from 15 minutes to 1 hour. When she didn’t have even a single vomiting during this period, she started accepting the fact that it was an irrational fear and that she can achieve a mastery over it. Slowly, she was exposed to the activities that can induce vomiting like smelling the toilet, spinning around, etc., She had nausea and she hesitated to do it initially, but with intermittent counseling and relaxation and frequently doing above activities, she could face the feeling of nausea with less fear than before. In view of severity of symptoms and family history of anxiety disorders in parents, patient was advised to continue medications. |
The patient is a 63-year-old Caucasian man. He is 1.61 meters tall and weighs 66 kilograms. After working as a car mechanic for 36 years, he had been receiving disability benefits for 11 years. He was working part-time as a caretaker averaging 10 hours per week until two and a half years ago. At the age of 35, the patient began having bouts of severe back pain approximately twice a year. When these episodes occurred, he took non-steroidal anti-inflammatory drugs for three to four weeks for pain relief. At the age of 40, lumbar spondylolisthesis was diagnosed by radiography. At the age of 50, he suddenly developed severe right hip pain. He suffered from substantial arthrosis on the right side, which was treated with a total hip replacement one year later.\nThree years ago, he began to develop neurological symptoms in both hands. Pain and loss of function of his fingers prevented him from working as a caretaker. The pain radiated from his neck bilaterally down to his fingers and was described as parasthesia-like in nature. He also complained of weakness in his hands. Left hand digit flexion was classified as J1 and right hand as J4. Digit extension was classified as J4 on the left and J2 on the right and abduction on the left was classified as J0 and on the right as J1. The patient also had difficulty walking (Nurick 4, EMS 10/18) as he had to support himself using his surroundings in order to stand upright and was unable to walk unassisted. He was referred to a neurologist by his general practitioner who in turn referred him to a neurosurgeon. Radiographs (Figure ) magnetic resonance imaging (Figure ) and computed tomography (CT) revealed a spondylolisthesis between C7 and T1. Using the Meyerding classification [], which was initially developed for grading the degree of lumbar spondylolisthesis, the patient would have been diagnosed with a cervico-thoracic spondylolisthesis of the second or third degree. The spondylolisthesis, measured using the method developed by Kawasaki et al. [], was 13 mm. In view of the special nature of the case, a collaborative treatment between neurosurgeons and orthopedic surgeons was favored and subsequently implemented.\nThe surgical management was performed as follows:\nThe patient was placed in the supine position. The intervertebral disk at C7-T1 was exposed using blunt dissection. The disk was then removed to the point of the ligamentum flavum. A subsequent resection of the lateral parts of the intervertebral discs significantly mobilized the spondylolisthesis.\nThe wound was closed and the patient was rotated to the prone position. First, the dislocation between vertebras C7 and T1 was reduced while positioning the head.\nSubsequently, the lateral masses were prepared from a dorsal approach between C5 and T3. Then, lateral mass-screws were inserted into C5 and C6. We had noticed considerable laxity between C6 and C7. In addition, C5 and C6 were naturally fused and we decided to include them in the instrumentation. There was also a rigid displacement between C7 and T1.\nBicortical screws were then inserted into the transverse processes of T2 and T3. These were inserted into at least two segments from both sides in divergent directions. The length of these screws was 10 to 12 mm, with a diameter of 3.2 mm.\nThis was followed by a laminectomy. Since the roots of C7 and C8 were exposed, the lateral masses of C7 and C8 had to be resected. Longitudinal rods were placed. Proper reduction in lordosis and the preservation of a 5 mm intervertebral space between C7 and T1 were confirmed by radiograph. Set screws were used to fix the instrumentation in the desired position. Chips of cortical and cancellous bone were placed lateral to the longitudinal rods.\nThe dorsal wound was then closed. The patient was again rotated to the supine position to reopen the ventral wound. Now, instead of the previously seen displacement, a large gap was visible between C7 and T1. The endplates between C7 and T1 were milled and the ligamentum flavum was resected using punches. Then, the spinal canal was exposed completely, using a Caspar opener.\nSubsequently, a Harms basket, filled with autograft bone chips, was inserted into the intervertebral space. Three drains were placed and the wound was closed. For prophylactic infection control, the patient was perioperatively given intravenous 1.5 g cefuroxime twice a day for the next four days. Intraoperative and postoperative radiographs (Figure and ) were taken to confirm correct placement of the instrumentation.\nFollowing the operation, the patient was transferred to the intensive care unit. His vital signs were stable enough for him to be transferred to the general postoperative recovery ward on the fourth postoperative day. Eleven days after surgery, the patient left the hospital and entered an orthopedic and neurologic rehabilitation program.\nThe pain and parasthesias in his fingers resolved after the operation. Two months postoperatively, his ability to walk had noticeably improved after completing his rehabilitation program (Nurick 3).\nToday, two years postoperatively, the patient is able to walk without assistance (Nurick 2). Flexion of the fingers on his left hand was graded as J3 and as J5 on the right hand. Extension of the fingers on his left hand was graded as J4 and as J2 on the right. Abduction was graded as J4 for his left hand and as J2 for his right hand (EMS 14/18). |
In January 2008, a 61-year-old man with a history notable for diabetes mellitus (DM), autonomic neuropathy, diffuse brain atrophy, optic nerve atrophy (OA), and profound amnesia was referred to us to establish neurologic care. The patient carried a diagnosis of multiple system atrophy- cerebellar type (MSAc), principally because of severe cerebellar and brainstem atrophy on MRI.\nThe patient's early history was remarkable only for childhood bedwetting and urinary urgency as a young adult. He was otherwise well during this time and was a talented athlete who completed college and practiced as an accountant. In his early 20s, he developed bladder dysfunction of unclear etiology requiring intermittent straight catheterization, as well as erectile dysfunction.\nAt age 33, he was diagnosed with DM, presumed to be type 1, and began treatment with insulin therapy. Although there is no biochemical data available from the time of his original diagnosis, recent testing demonstrated a random C-peptide level of 0.6 ng/mL (reference range 0.9 to 4.3 ng/mL) at a time when his blood glucose was 83 mg/dL. He takes an average of 24 units of insulin per day, and has had good glycemic control with hemoglobin A1c measurements ranging between 6.5 and 7.2% over the last several years. He has had no evidence of retinopathy, or other microvascular or macrovascular complications. He had polyuria and polydipsia at the time of his initial DM diagnosis, but these symptoms resolved once he initiated insulin therapy.\nThe patient began dressing in strange colors in his 30s, and color blindness was ultimately diagnosed in his 40s. At age 53, the patient presented for a routine screening ophthalmology exam and was discovered to have bilateral OA with preserved vision. Brain MRI at that time revealed severe atrophy of the cerebellar hemispheres and vermis, pons, and middle cerebellar peduncles as well as moderate cerebral atrophy; a more recent study at age 61 showed these findings as well as more severe cerebral atrophy (Figure ). Despite these radiographic findings, the patient and his wife reported no gait instability or upper extremity incoordination.\nDuring his late 50s, the patient's neurologic status deteriorated. Formal neuropsychological evaluation revealed profound anterograde amnesia, with additional impairments in cognitive flexibility, executive function, naming, and high order visual processing skills. Attention span, mental tracking, verbal abstract reasoning, complex auditory instructions, and visual spatial functions were preserved. From a psychiatric perspective, he developed symptoms of depression, which responded to treatment with sertraline.\nIn parallel with the decline in his memory, the patient also developed progressive autonomic neuropathy, with gastroparesis and severe postural hypotension. The autonomic dysfunction exceeded what might be expected from his diabetes mellitus, given his good glycemic control and the absence of other diabetic complications. His bladder dysfunction worsened and he required suprapubic catheter placement at the age of 61. Due to his multiple functional deficits, the patient became unable to work and is now completely reliant upon his wife for care.\nRegarding his family history, the patient was born to Ashkenazi Jewish parents and there was no parental consanguinity. His mother died from melanoma, and his father died from multiple strokes and a myocardial infarction. He has two adult daughters, one of whom has attention deficit hyperactivity disorder (ADHD) and Tourette syndrome, while the other suffers from chronic urinary tract infections. His maternal grandmother had type 2 DM, and a maternal first cousin had type 1 DM. No other close relatives have suffered from endocrine, psychiatric, or neurologic disease.\nOn physical examination, he appeared generally medically well. He weighed 79 kilograms and was 178 cm tall, yielding a body mass index of 25. Postural hypotension was evident with systolic blood pressure falling from 150 to 95 after one minute of standing, though asymptomatic. Funduscopic examination revealed optic atrophy bilaterally with no sign of diabetic retinopathy. Visual acuity was 20/40 in each eye. Pupil responses to light and accommodation were normal. Eye movements were normal with the exception of saccadic intrusion into horizontal smooth pursuit. Clinical examination revealed high tone hearing loss bilaterally. Audiometry demonstrated moderate sensorineural hearing loss in the high frequencies on the left, and mild sensorineural hearing loss in the mid-frequencies on the right sloping to a severe loss in the high frequencies (Figure ). Word recognition was excellent in both ears; 98% on the right and 96% on the left. Muscle tone in the extremities was normal, bulk was intact, and strength was full. There was no evidence of dysmetria with finger-to-nose and heel-to-shin testing, and gait was slow but stable. His affect was flat and he was passive throughout the interview, speaking only when spoken to. He was not oriented to time or place. He could repeat four words, but could not learn them despite multiple attempts. He was unable to provide information concerning major current political or national news. He could, however, recall sizable fragments of remote memory from his college years.\nThe absence of the cerebellar motor syndrome and the presence of a profound amnestic syndrome on examination called the patient's diagnosis of MSAc into question [], and we undertook re-evaluation of his case to explore alternate diagnoses. His laboratory work-up revealed an undetectable thiamine level, a surprising finding given his normal diet and the absence of alcohol abuse. We ascribed his amnestic disorder to presumed long-standing thiamine deficiency, but repletion produced minimal clinical impact. The involvement of multiple systems suggested the possibility of a mitochondrial disorder. Genetic testing for OPA1, MELAS, MERFF, LHON and NARP were negative, however analysis of mitochondrial DNA (mtDNA) from a muscle biopsy sample by both Southern blotting and PCR analysis revealed multiple heteroplasmic deletions. Biochemical testing revealed a minor defect in complex I of the electron transport chain. COX and SDH staining of the muscle biopsy specimen were unremarkable, and the mitochondria appeared grossly normal on electron microscopic examination. Occasional central vacuoles and tubular aggregates were seen in the myocytes, which were felt to be consistent with a mild non-specific myopathy.\nGiven the diagnostic uncertainty and concern for a mitochondrial disorder, the patient was enrolled in the mitochondrial disease registry at Massachusetts General Hospital. As part of this program, a sample of the patient's DNA from whole blood underwent targeted exome ("MitoExome") sequencing. Mitochondrial DNA and the exons of 1,600 nuclear genes either encoding mitochondrial proteins or implicated in Mendelian disorders with multi-system phenotypes were targeted using hybrid selection []. Amplified targets were sequenced on the Illumina GAIIx platform. Rare, protein-modifying variants found to be homozygous or potentially compound heterozygous were prioritized (Figure ), revealing an X-linked functional polymorphism c.937G > T (p.D313Y) in GLA that is not considered pathogenic [] and a homozygous c.1672C > T (p.R558C) missense mutation in exon 8 of WFS1 that has previously been reported in a patient with Wolfram syndrome []. No heteroplasmic mtDNA deletions were detected in whole blood. The patient's WFS1 mutation was verified through Sanger sequencing in a CLIA-certified laboratory, though not without complications; the initial report came back negative and only after requested follow-up was the homozygous mutation detected, thereby confirming the diagnosis of Wolfram syndrome. |
A 59-year-old woman was admitted to the emergency room of a local hospital with the sudden onset of severe chest pain radiating to her back. She had a history of hypertension and a cerebrovascular accident. At the time of presentation, she had a drowsy mental status. The cardiac enzymes were elevated on baseline laboratory testing. A chest film showed mediastinal widening (). The initial electrocardiogram (ECG) showed a normal sinus rhythm without significant ST-T changes (). An emergent chest CT scan was performed under the suspicion of an acute aortic dissection, which showed an acute Stanford type A aortic dissection (). The patient was then transferred to our institution for repair of the aortic dissection. She was hemodynamically unstable.\nEmergent ascending aortic replacement surgery using a graft was performed with the patient under general anesthesia using a median sternotomy. Upon opening the pericardium, a hemopericardium was noted. The aortic root was incised, and an intimal tear was identified just above the sinus of Valsalva. The dissection had not extended to the orifice of the left coronary artery. We carried out an ascending aortic replacement with a 28-mm Hemashield® graft. Systemic circulation was then restarted. ST segment elevation was observed on the ECG monitor immediately postoperatively. Sedation and mechanical ventilation were maintained, and she was transferred from the operating room to the intensive care unit (ICU).\nIn the ICU her blood pressure and cardiac output remained low in spite of sufficient inotropic support. An ECG showed ST segment elevation in leads II, III, and aVF, and in the precordial leads, suggesting broad myocardial ischemia (). In addition, transthoracic echocardiography showed regional wall motion abnormalities in the territories of the left anterior descending artery (LAD) and left circumflex artery (LCx), and moderately decreased LV systolic function. These results suggest coronary artery malperfusion, probably caused by progression of the aortic dissection into the left coronary artery. Accordingly, emergent coronary angiography was performed 90 minutes postoperatively.\nCoronary angiography revealed no significant luminal narrowing in the right coronary artery, but almost complete collapse of the lumen of the LAD (). After forceful contrast injection into the LAD, the collapsed lumen was reopened, but it subsequently recollapsed without forceful contrast injection. A similar finding was observed in the LCx (). We reasoned that this life-threatening coronary artery occlusion was caused by pulsatile compression of the false lumen of the left coronary artery dissection. A zotarolimus-eluting stent was deployed in the mid-portion of the LAD and a bare metal stent (Tsunami®, 3.5×30 mm) was deployed in the proximal portion of the LAD. Three bare metal stents (Driver®, 3.0×30 mm; Tsunami®, 3.0×30 mm; and Driver®, 3.0×18 mm) were successfully deployed from the distal portion to the proximal portion of the LCx. However, coronary blood flow was not improved. Thus, direct stenting at the left main stem, and a bare metal stent (Driver®, 3.5×18 mm) was successfully deployed. The final angiogram of the left coronary artery showed Thrombolysis In Myocardial Infarction (TIMI) flow grade 3 in the LAD and LCx.\nFollow-up coronary angiography was performed 45 days after percutaneous coronary intervention (PCI) because the patient remained unstable. Dyspnea was New York Heart Association (NYHA) class III/IV and follow-up two-dimensional echocardiogram (2D-UCG) revealed a severe decrease in LV systolic function. Follow-up coronary angiogram showed significant in-stent restenosis at the proximal portion of LAD (). An intravascular ultrasound (IVUS) study showed the remaining coronary artery dissection in the diagonal branch of the LAD (). Repeat balloon angioplasty using a 4.0×20 mm balloon (Apollo®) was performed at the site of in-stent restenosis. The final angiogram of the LCA showed TIMI flow grade 3 in the LAD and LCx. Her clinical course following the repeat PCI was stable and uneventful. The patient was discharged from hospital 51 days after the surgical repair. A follow-up coronary angiogram was performed 8 months after the PCI and showed no significant in-stent restenosis (). |
A male patient aged 37 years visited the local hospital and planned to undergo botulinum toxin injection to relieve spasticity and dystonia of his left upper limb 3 years after subarachnoid hemorrhage. His past medical history revealed the fact that he had been affected by dystonia and spasticity in his left upper limb, especially the hand, secondary to tuberculous meningitis at the age of 3. The patient reported that for decades his left upper limb muscle strength was normal, however, it decreased to fair grade after the subarachnoid hemorrhage with worsening of dystonic and spastic symptom.\nThe degree of spasticity before the treatment was Modified Ashworth Scale (MAS) 2 in upper arm flexor muscles. The patient received a total of 200 U of onabotulinum toxin A (Botox): 100 U each into the left biceps brachii muscle and the brachialis muscle to relieve spasticity. Guiding techniques such as the ultrasound or electromyography were not used, but no complications were noted during injection. Electrical stimulation therapy was applied to the treated muscle, and the patient stretched his arm repeatedly to improve the range of motion. He performed exercises of the arm and shoulders at least 3 hours daily at a higher intensity than usual. During the exercise, there was no discomfort, and later, he increased exercise intensity. However, 3 days later, progressive edema and pain occurred in the left upper limb and he was transferred to our hospital the next day. He had no history of trauma except the stretching exercise, with no history of previous cardiovascular or other hemorrhagic diseases. He did not take drugs that affecting blood coagulation tendency. There were no known drug allergies. The thrombophilia profile was negative except for the mildly elevated D-dimer concentration (2.2 μg/mL) ().\nThe strength of the left shoulder flexor and extensor muscle at the time of visiting our clinic was fair grade (manual muscle test, 3/5). The spasticity of the upper arm flexor muscle was identified as MAS 1+. Physical examination revealed edema, heat and tenderness of the left upper extremity (). No sign of a local infection or tenderness was observed in the area of BoNT-A injection conducted 4 days back. The circumferences measured bilaterally at 5 cm above medial epicondyle were 33.5 cm on right and 37.6 cm on left, respectively. Given the patient’s symptoms, DVT was suspected, and thus, Doppler ultrasonography was performed. The results revealed the presence of DVT at the lower region of the left brachial and axillary veins (). In addition, venous computed tomography (CT) angiography was conducted to identify the distribution of thrombosis. Thus, the thrombus was observed from the lower region of internal jugular vein including the brachiocephalic and the axillary veins ().\nThe patient was placed in a sling to immobilize the arm and anticoagulation therapy was initiated with rivaroxaban (Xarelto; 15 mg twice daily per oral). After 1 week, compressive therapy was combined using compression bandage with icepack to reduce febrile sensation and edema. The edema in the upper extremity improved with time and the pain with febrile sensation disappeared.\nAt the 2-week follow-up, the patient had no pain or swelling. CT performed one month later revealed the resolution of filling defect with only small residual thrombosis in the brachiocephalic vein (). To reduce the risk of recurrence of DVT, rivaroxaban (Xarelto) was continued at the dosage of 20 mg once daily for 6 months. |
A 57 year old man presented to the clinic with a chief complaint of vague left sided abdominal pain for two weeks. One year earlier he had been admitted on two separate occasions for left shoulder pain with significant tenderness over the bicipital groove, lateral border of the scapula, and sternocleidomastoid. The patient had survived a mine explosion in 1967 while serving in the Vietnam War resulting in surgical asplenia. Physical examination at the time of presentation was unchanged from previous admissions. CBC revealed a decreased RBC count (4.47 cells/L) with a borderline low hemoglobin level (14.5 gm/dL) and a slightly elevated MCV (98.1 fL). Fecal occult blood study was positive.\nA colonoscopy was performed under IV sedation with 25 mg of meperidine and 2 mg of midazolam. Colonoscopy revealed a large number of diverticula in the sigmoid and descending colon. The scope was negotiated up to the splenic flexure at which point the lumen was no longer visualized. The patient was turned supine and to the right lateral decubitus position. Despite these maneuvers the colonoscope could not be advanced past the splenic flexure. The scope was withdrawn and the injected air was removed.\nWithin 24 hours of colonoscopy the patient presented to the emergency department with complaints of abdominal distension, epigastric pain, nausea, and dyspnea. A CT scan of the abdomen was interpreted as normal. The patient was discharged with analgesics. Two days later he returned with similar complaints. A second CT scan was read as normal. The patient was again discharged. Four days post colonoscopy the patient was admitted to the hospital due to worsening pain and dyspnea. He had not had passed flatus or stool since the colonoscopy. Physical examination now revealed a tachycardic, diaphoretic man in respiratory distress with a distended abdomen and faint bowel sounds. Laboratory analysis revealed the following at the time of admission: urine positive for protein, WBC's, and RBC's; serum WBC 11.3 cells/L; RBC 4.12 cells/L; Hgb 13.1 gm/dL; HCT 39.4%; MCV 96.6 fL; PLT 306 K; neutrophils 51.3%; monocytes 9.9%; glucose 140 mg/dL; BUN 54 mg/dL; Cr 4.4 mg/dL; Na 133 mEq/L; K 3.6 mEq/L; Cl 97 mEq/L; CO2 17 mEq/L; Ca 8 mEq/L; cardiac enzymes CK 213 U/L; CK-MB 0 U/L; troponins 0 U/L; Mb 124.9 ng/ml; pH 7.42; pCO2 24 mmHg; pO2 71 mmHg; HCO3 15.6 mmol/L; O2-sat 78% on room air, 98% on 4 L. Abdominal imaging revealed distended right and transverse segments of the colon without gas in the left side of the colon or free air under the diaphragm (Figure ). Chest x-ray showed infiltrates in the left lower lung. A CT scan revealed a large amount of air and fluid in the left hemithorax causing a shift of the mediastinum to the right. Soft tissue density was also noted on the left side of the diaphragm (Figure ). A chest tube was placed on the left side and 800 ml of foul smelling fluid was drained and sent for culture. Follow-up imaging revealed that the lung field had reexpanded to 75% and the patient's shortness of breath had improved. Analysis of the pleural fluid revealed gram positive cocci in pairs - later shown to be enterococcus and an alpha strep species.\nThe patient was treated for sepsis. He was given a 1 L bolus of lactated ringer's solution and maintained on D5 in normal saline at 200 ml/hour. Acute renal failure secondary to sepsis led to a metabolic acidosis. A CT scan of the abdomen without contrast revealed herniation of the stomach and splenic flexure of the colon through the left diaphragm with extensive inflammatory changes in the area of the splenic flexure. Marked thickening of the colonic wall suggested incarceration. Exploratory laparotomy revealed that the splenic flexure had herniated through a defect in the posterolateral portion of the left diaphragm. Six inches of strangulated bowel was removed with adjoining mesentery. The defect in the diaphragm was closed and a cecostomy was created. The patient was treated with vancomycin and gentamicin.\nThe patient developed hypoxia soon after leaving the operating room. An EKG revealed ST segment elevation in the lateral leads. Seven days after admission the patient expired. |
A 73-year-old male presented to Urology Specialists of the Lehigh Valley in October 2010 with a right renal pelvis filling defect, potentially a urothelial carcinoma. The lesion was detected by CT scan (Figure A) performed for unrelated reasons and had not been visible on prior CT scans.\nThe patient had smoked for 20 years but had stopped smoking approximately 10 years prior. He previously had non-small cell lung cancer that was treated with radiation and chemotherapy in 2001–2002 and was in remission. In 2001–2002 he had a coronary artery bypass graft and an abdominal aortic aneurysm repaired. The patient was asymptomatic from these conditions at the time of presentation.\nA physical examination was normal. The laboratory values were within normal limits. The patient had no urinary complaints. Urine cytology and cystoscopy were negative. Right retrograde pyelogram disclosed a complete ureteral duplication. Complete ureteropyeloscopy was not possible due to the narrow ureters. Retrograde pyelogram of the lower pole was performed and was normal. It was not possible to perform a retrograde pyelogram of the upper pole unit because the ureter was only about 1 mm in diameter, where a normal ureter is 3–4 mm in diameter. The instruments used in our practice are sized and scaled for a normal ureter and not for this small ancillary ureter. An attempted pyelogram was unsuccessful as the contrast did not fill the ureter or renal pelvis.\nApproximately 6-months following initial urological evaluation, CT scan confirmed the presence of the mass which now appeared larger (Figure B). These findings were consistent with urothelial carcinoma of the renal pelvis, although urine cytology was again negative.\nPrior to initiating more invasive diagnostic methods, a real-time PCR-based genetic assay was used to determine if the patient’s urine contained DNA that carried FGFR3 mutations in exons 7, 10, or 15 []. This assay has 99.9% specificity for urothelial carcinoma. A mutation was detected in exon 10 (Y375C) of FGFR3, indicating a high probability (94.7% PPV) that the patient had urothelial carcinoma.\nThe patient underwent right nephroureterectomy. The arterial anatomy precluded an upper pole nephroureterectomy. The tumor involved the renal pelvis of the upper pole collecting system. Upon cut sections, the kidney exhibited an ill-defined partially raised, partially nodular tan-pink dense focus, located in the renal pelvis of the upper pole, which measured 1.5 cm greatest dimension. This focal area appeared limited to the upper pole renal pelvis/calyx and abutted but did not involve kidney parenchyma or peripelvic fat. Due to autolysis, tumor grade was somewhat difficult to provide definitively. However, the pathologist favored a designation of low grade urothelial carcinoma (WHO 2004). No lamina propria, renal parenchyma or peri-nephric fat involvement was identified such that the tumor stage was Ta,N0,M0. Tumor tissue obtained from the archival paraffin block was found, using quantitative PCR, to have an exon 10 (Y375C) mutation, which is consistent with the tumor being the source of the mutant DNA found in the urine.\nSince the nephroureterectomy, the patient has been monitored for recurrent cancer. We performed a postoperative CertNDx test in March 2012, 7 months after the nephroureterectomy, which was negative for the presence of FGFR3 mutant DNA. In addition following the uncomplicated postoperative course, the patient had surveillance cystoscopies in November 2011 and February 2012, both of which were negative. As part of the continuing follow-up, the patient will undergo surveillance cystoscopy several times per year for the foreseeable future. In view of the negative CertNDx test, upper tract imaging has not yet been performed. The left kidney has not been examined as it was normal at the time of the most recent CT scan (June 2011). |
An 11-year-old boy was referred to the maxillofacial unit of Sulaimany Teaching Hospital, Iraq with midline facial destruction. The patient stated that about 6 months prior he had fallen and suffered a nasal fracture and a septal hematoma, and then underwent surgery for reduction of the fractured nasal bone with hematoma drainage under general anesthesia. He had a complete recovery after one month. However, 3 months after the traumatic event, an ulcer like a site of an insect bite () appeared and did not heal for 2 weeks, gradually increasing in size (). As the lesion enlarged, his nose became blocked with a purulent discharge, leading to a diagnosis of chronic sinusitis.\nOn admission to our hospital unit, destruction of the entire midface was apparent (). He had fever, headache, and appetite loss; disfiguring erosion of the nose; conjunctivitis; and also swelling of the bilateral periorbital, eyelids, and lower part of the nose. There were no intraoral lesions. The regional lymph nodes were not enlarged. The chest was also normal clinically and radiologically. A computed tomography (CT) scan of the face and paranasal sinuses revealed an irregular enhancing lesion in the affected region of the nose extending both nasal cavities and the ethmoid sinus with erosion and perforation of the nasal septum. The brain parenchyma was normal.\nIntravenous fluids and antibiotics were given and during cleaning & debridement of the wound a biopsy was taken. Daily irrigation of the wound was started. The patient was not anemic, was HIV-seronegative and did not have syphilis. There was leukocytosis and lymphocytosis, and a culture of the purulent discharge from the lesion grew fungal hypha, so he was given Amphotericin-B 1 mg/kg/day. The biopsy of the lesion showed mucoid material mixed with a fibrinopurulent exudate, with no evidence of malignancy. A second biopsy showed nonspecific inflammation and then a third biopsy was performed and an atypical lymphocytic infiltrate was found, suggesting malignancy (). Immunohistochemistry analysis of the biopsy specimen was strongly positive for cytoplasmic CD3, P53, and CD56. All of these features confirmed the diagnosis of ENK/TCL-nasal type with a T immunophenotype (). Staging was performed by a medical oncologist through a complete blood count and film, ESR, lactate dehydrogenase (LDH), and a CT scan of the brain, neck, chest, and abdomen, also bone marrow aspiration and biopsy with CSF cytology were performed. PET scanning was not available. The patient was staged with a localized destructive lesion with no metastasis associated with a high LDH.\nChemotherapy was started using an adriamycin and L-asparginase containing regimen (UKALL 2003 protocol) because this type of non-Hodgkin lymphoma (NHL) usually responds well to such chemotherapy with cranial prophylaxis. At the end of the induction phase of treatment, he entered a very good partial remission ().\nDuring the consolidation phase, he developed sagittal vein thrombosis and febrile neutropenia as a complication of chemotherapy. Chemotherapy was stopped for a short period and supportive treatment started with a very good response. However, after a week he developed a progressive lesion. Chemotherapy was restarted with concomitant radiotherapy, again with a partial response (). The patient began preparation for a stem cell transplantation but unfortunately died because of a pulmonary embolism, most probably due to a side effect of L-asparginase, which causes coagulopathy, although it had been stopped and he was on low molecular weight heparin at the time. |
A 40-year-old male presented to the outpatient clinic of the tertiary care hospital with complaints of cough, expectoration, hemoptysis, and fever off and on particularly in the evenings. He had been treated for pulmonary tuberculosis previously in the year 2009 and subsequently in the year 2012 following its remission. He was on oral and inhalational steroids for several years for wheeze-like symptoms. He had sought consultation and had been admitted in other hospitals several times for similar complaints. The patient did not have any other comorbid conditions. He was a welder by occupation and so exposure to fumes and fine metallic dust particles was noted as a significant factor in the clinical history. Physical examination of the respiratory system revealed bilateral coarse crepitations. Examination of other systems did not reveal any contributory findings. Chest radiograph and routine blood workup were undertaken. Chest X-ray revealed bilateral midzone and lower zone consolidation (). With a diagnosis of bilateral bronchiectasis, he was admitted to the hospital for further evaluation and to investigate the status of pulmonary tuberculosis in the light of hemoptysis.\nThe patient was initially started on intravenous piperacillin/tazobactam for empiric treatment of community-acquired secondary pulmonary infection. Despite the antibiotic, the patient had sustained decrease in oxygen saturation leading to deterioration in pulmonary function over the next few days. With impending respiratory failure, he was shifted to the Intensive Care Unit (ICU). The antibiotic was escalated to meropenem due to his deteriorating clinical condition. Blood and urine cultures were sterile, and 20% acid-fast staining of sputum and respiratory secretion was also negative. Sputum was sent for bacterial culture. The culture plates initially had scanty growth of normal flora, but on Gram stain there were few branching Gram-positive bacilli observed which was suggestive of Nocardia (). In view of this, modified acid-fast staining with 1% acid was performed on the smear, and it revealed plenty of weakly acid-fast branching slender and filamentous bacilli characteristic of Nocardia (). The culture media on further incubation of 72 hours yielded dry chalky white colonies (). Gram's stain and acid-fast stain of these colonies confirmed them as Nocardia. For species identification, 16S rRNA gene sequencing was undertaken. BLAST search of the sequence was done using the taxonomy browser of the National Center for Biotechnology Information (NCBI). The 662 bp of the sequence revealed a 100% match with Nocardia cyriacigeorgica. The sequence has been submitted to GenBank with accession number MK641487.\nNocardia cyriacigeorgica belongs to Nocardia asteroides complex (vi). This species was first described in 2001, and strains of N. cyriacigeorgica have since been recovered as the etiologic agent of human infection in Western Europe, Greece, Turkey, Japan, Thailand, and Canada []. Most cases of infection have occurred in the context of HIV-related or iatrogenic immune suppression. Pulmonary nocardiosis caused by Nocardia cyriacigeorgica in patients with Mycobacterium avium complex lung disease has been described before []. It has also been identified as the causative agent of an anterior mediastinal abscess in a patient with preexisting lung disease [] and the aetiological agent of native valve endocarditis in a patient with chronic obstructive pulmonary disease (COPD) [].\nIn addition to sulfonamide susceptibility, they are generally susceptible to broad-spectrum cephalosporins, amikacin, imipenem, and linezolid but resistant to penicillin, clarithromycin, and ciprofloxacin. It has been reported in the literature that serious life-threatening infections caused by Nocardia cyriacigeorgica are controlled well with dual therapy []. In view of the species identification, the patient was started on injection imipenem and oral trimethoprim sulphamethoxazole. The patient began to improve clinically with this therapy. Oxygen saturation levels improved, fever declined, and the patient was shifted out of the Intensive Care Unit. Subsequently, with sustained improvement, he was discharged from the hospital in good health with the advice to continue oral cotrimoxazole for six months. The patient continues to remain relapse free. |
In June 2011, a 56-year-old male was referred to our department by head and neck surgeon in order to improve his upper denture retention and stability. The patient was diagnosed with a squamous cell carcinoma of the maxillary gingiva (T4N0M0) in May 2005 and underwent an extended left maxillectomy, an anterior and middle cranial base resection, a left ophthalmectomy, and a flap reconstruction using the rectus abdominis muscle were performed. On physical examination, a recessed deformation on the left side of his face could be seen because of the left ophthalmectomy. The function of the left levator palpebrae muscle was eliminated to the level of a slight elevation by using the frontal muscle. A metal plate was anchored to the inferior wall of orbit. The left ethmoid bone, inferior nasal turbinate, the maxilla, alisphenoid, medial and lateral pterygoid muscle were already excised during the mesh titanium plate reconstruction of the anterior wall from the maxillary orbital region. Intraorally, the left maxilla had been excised from the midline, with the rectus abdominis muscle flap sutured directly to the soft palate. The peripheral mucous membrane around the left upper lip was already scarred, without the oral vestibule, and the flap margin had moved along with the surrounding soft tissue. The 70 × 50 mm flap was sagging from its weight and was in contact with the mandibular molars, reducing the volume of the oral cavity unless dentures were worn. The maxilla was removed from the midline to the maxillary tuberosity, while the mandible was removed from the anterior border of the ramus to the coronoid process. Dead space was eliminated because the abdominal rectus muscle was placed from the anterior cranial base to the oral cavity during reconstruction (Fig. ). No expiratory leakage or food reflux was observed, and the rhinopharyngeal closure was maintained. Prior to performing surgery, there was no tumor recurrence or metastasis. The patient had a mouth opening of 43 mm, which we judged operable and then conducted the flap reduction and elevation under general anesthesia in Dec 2008. Informed consent was obtained from the patient’s parents prior to study initiation, and all procedures were performed in accordance with the Declaration of Helsinki.\nSurgical reconstruction was performed as follows:An incision was made from the buccal side of the sutured edge (scar) in the abdominal rectus muscle flap (Fig. ). We can conduct a vestibular extension at the same time by incising this position. The adipose tissue was peeled from the buccal side to slightly beyond the skin flap center while maintaining approximately 5 mm thickness. The adipose tissue was reduced using a radio knife (8 g) (Fig. ). When we reduce fat tissue, we must avoid perforating of the skin. The skin was incised directly above the zygomatic bone, with tissue separation (avoiding exposure of the plate) to enable easy visibility of the zygomatic bone. Subsequently, the subcutaneous tissue was peeled from the zygomatic bone to the oral cavity for tunneling. Three mini QUICKANCHOR® (Depuy Mitek Surgical Products, Inc. Raynham, MA, USA) anchors were placed in the zygomatic bone, and anchor sutures were drawn through the subcutaneous tissue to lift the skin flap. A modeling compound was used to shape the margin of the celluloid splint (Fig. ). The advantage of flap suspension using Mitek anchors is the simple operability, less anchor positioning limitation, and easier length adjustment of the thread for suspension, which lead to easier fixation of soft tissue without slackness as well as clinically sufficient strength for fixation of ligament and tissue. On the other hand, less than 4 mm thickness of the cortical bone for suture anchor fixation causes insufficient fixation, therefore, determining placing position on the bone for fixation is necessary. Consequently, due to the versatility, the position that is considered optimal for stronger fixation and more efficient suspension can be selected as the anchor placing position, while the periosteum, corium, and scar tissue that are thought the most suitable for maintaining the strength can be chosen for the suture thread. Regarding the anchor placing position in this case, we determined 3 positions on the zygomatic bone and sutured flap corium taking into consideration a complete maxillectomy had been completed, which resulted in being able to lift the flap outward and upward.\nPostoperatively, the color of the skin flap was normal without congestion or necrosis. The celluloid splint was removed 10 days after the surgery with no infection or necrosis observed in the skin flap. We can find only fat, scar tissue, not carcinoma in the reduced fat tissure. At 3 months postoperatively, epithelialization and scarring were observed on the border of the skin flap and buccal mucosa, with no wound opening. Next, a denture that was stabilized to the right residual teeth with a clasp made. This prosthesis had two double Akers cast clasps unilaterally to retain the prosthesis by the four remaining molars. The major connector used anteria paratal plate. The patient was quite satisfied to be able to masticate, form an alimentary bolus, and swallow without any teeth falling out. No re-sagging of the skin flap or wound infection was observed at 3 years postoperatively. Patient follow-up will be continued at our department (Fig. ). |
A 54-year-old woman (gravida 0, para 0) was transferred to our department with an extensively distended abdominal wall and leg pain. Regular menstruation started at age 14, and she experienced menopause at age 48. She had no history of regular hospitalizations. Over the past few years, she had noticed a gradual progression of abdominal bloating, but she had not decided to go to the hospital. Finally, when it became difficult for her to walk by herself, she went to a nearby hospital and was transferred to our department.\nHer vital signs were stable; however, her abdomen was markedly distended from the cardiac fossa to the lower abdomen, making it difficult for her to stand by herself (). Marked pitting edema was found in both legs.\nContrast-enhanced computed tomography showed that the tumor occupied the whole abdominal cavity (38 cm × 40 cm × 48 cm), and both kidneys were being pressed significantly dorsally (). Most of the tumor was uniform, and its density was like that of subcutaneous fat. There were no hypervascular lesions, and the right ovarian artery and vein flowed into the tumor (). No obvious venous thrombosis was detected; however, pleural effusion was detected in the right thoracic region (). The tumor was too large to obtain useful information from magnetic resonance imaging.\nBlood test results showed that the CA125 value was slightly elevated, and there was a marked increase of estradiol and a marked suppression of luteinizing hormone and follicle-stimulating hormone levels (), which indicated a benign ovarian solid fibroma or thecoma with Meigs syndrome.\nWe planned to surgically remove the right adnexa, but because of concerns about potentially severe complications, we organized a multidisciplinary team of general surgeons, anesthetists, radiation oncologists, and plastic surgeons to plan the treatment course.\nWe placed two surgical beds side by side for the operation. During the laparotomy, the patient was placed in the left lateral decubitus position to maintain hemodynamic stability and because the tumor was assumed to be of right ovarian origin (). With the help of general surgeons, we confirmed that there were no adhesions between the tumor and the abdominal wall, and the surface of the tumor was smooth (). We confirmed that the right ovarian artery and vein truly flowed into the tumor (). Her uterine and left adnexa were intact. We cut both vessels, the right fallopian tube, and the ovarian intrinsic ligament and successfully removed the right adnexa. The tumor weighed 36 kg. Because the subcutaneous fascia and skin were markedly stretched by the tumor, a plastic surgeon trimmed the excess fascia and skin and reformed the umbilicus. During the operation, the patient's vital signs were fairly stable. The amount of intraoperative blood loss was 420 mL, and the operation time was 4 hours and 17 minutes.\nThe patient was then extubated and moved to the intensive care unit for recovery. There were no signs of major complications, and she was moved to the general ward on the 1st postoperative day. A chest radiograph on the fourth postoperative day showed a marked decrease in the right pleural effusion (). The postoperative course was generally favorable, and the patient was discharged on the 7th postoperative day.\nA pathological examination showed that the tumor was macroscopically nearly white, but there were no obvious necrotic lesions (). Microscopically, the tumor was composed of thin spindle cells in a whorled arrangement, but nuclear atypia and mitosis were not observed, and the fibroma diagnosis was confirmed (Figures and ).\nOn the 29th postoperative day, the patient visited the outpatient, and the wound was observed to be healing well. A blood test performed 7 months after the surgery confirmed that her hormonal status had returned to the menopausal status (), and she did not show any complaints. |
A one year and four months old male child presented with preaxial polydactyly of the right foot and dysplastic tibia associated with shortening and varus deformity in the right leg and foot. On examination the child was found to have normal mental and physical milestones. Obstetric history of the mother revealed no previous history of abortion. No history of any previous pregnancy. She was a primigravida with the first child being the present one with no siblings. The child was born from a full term pregnancy with caesarean for pregnancy induced hypertension. There was no history of consanguineous marriage in the family. On examination the child had a varus deformity in the right leg with a shortening of 5cm (). The right leg as maintained in an attitude of flexion at the knee. Extension was possible actively with grade 3+ power in the right knee. Active flexion was possible up to 100 degrees. Complete range of movements possible at the hip however the ankle was fixed in a rigid equinovarus position. No instability was associated at the knee or ankle. Radiographs relevealed a trapezoid tibia with preaxial polydactyl (, ). At the time of presentation the child was 1 year 3 months but unable to walk. Since the other milestones both physical and mental had progressed well, the child’s inability to walk was attributed to the deformity in the left foot and tibia associated with shortening. Other associated anomalies included a preaxial polydactyly at the right hand with an additional right thumb. The child had an undescended testis on the left side with an absent kidney on the right side as well as no testes on the right side.\nProblem faced by the child at the time of presentation were mainly: shortening, severe varus deformity of the tibia and foot which were not passively correctible, preaxial polydactyly causing inability to wear footwear and also giving the foot a grotesque cosmetic deformity. Aim of surgery at this stage was to provide the child with a plantigrade foot, improve cosmosis and enable child to wear footwear.\nSurgical procedure: Surgery was performed under general anesthesia with intubation. Surgery involved two stages. The first part was removal of the preaxial polydactyly in the foot. This was performed with a racquet shaped incision in which the toes were removed with the metatarsals. This procedure did not include excision of the duplicated talus. Thus 2 metatarsals and 2 sets of phalanges were excised. The wound was then closed over the medial aspect. The second part of the surgery was correction of the varus deformity in the trapezoid tibia. This varus deformity was corrected by a lateral incision over the leg on the most prominent part of the tibia. This was also marked by a small dimple in the skin. The tibia was dissected out subperiostialy. Two guide wires were used to mark out a lateral closed wedge osteotomy. A fibular osteotomy was done with excision of 1 cm of fibula to allow correction to occur at the osteotomy site. Correction was achieved with a lateral closed wedge osteotomy held in place with a pair of K wires. Closure of the wound was done. Cast maintained for a period of 2 months till the osteotomy site healed completely. K wires removed at 4 weeks of cast change when check x-ray showed good healing at osteotomy site. Post operatively the child was given a supportive clam shell brace extending up to the thigh with a shoe raise. This facilitated the child’s ability to walk and run. It also was expected to maintain the correction achieved.\nAt 2 years follow up there was recurrence of varus deformity (, , ). There was overgrowth of the fibula with prominence of the fibular head. However the child was walking and running with help of orthosis and parents refused to undergo corrective surgery. The patient was lost to follow and finally was traced back 5 years after corrective surgery. At this time the tibia vara had increased with ankle inversion and overgrowth of fibula, however ankle dorsiflexion was 90° and plantar flexion was 30°. There was a limb length discrepancy of 9 cm, however the child was able to walk and run with shoe raise (, , ). Knee quadriceps was grade 5 with no flexion deformity and full range of knee movements. At present again the child’s parents are not ready for corrective surgeries but promise to keep regular follow up.\nContemplated surgeries for the future are a repeat osteotomy of the tibia and epiphysiodesis of the fibular head to prevent further growth at the fibula from causing recurrence of the deformity. |
A 21-year-old woman was consulted in February 2015 for bleeding gingival enlargement evolving for 12 months. She complained of esthetics, discomfort, and difficulties of plaque control. According to medical history, the patient had received a kidney transplantation 2 years earlier (2013). She has been administrating a daily immune suppressor treatment based on cyclosporin A 125 mg, prednisolone 5 mg, and mycophenolate mofetil 500 mg per day as a prophylaxis against organ transplant rejection.\nThe patient had a very poor oral plaque control; the plaque index PI [] and gingival index GI scores [] were high which were, respectively, 2 and 2.75.\nThe clinical examination revealed an erythematous, edematous gingival overgrowth localized at the buccal and lingual side of the anterior teeth. The gingival overgrowth appeared as localized nodular enlargement of the interdental papilla (Figures –).\nThe amount of the gingival overgrowth was obtained according to the GO score of Seymour et al. [].\nA GO score was assigned to each buccal and lingual interdental papilla (gingival unit) of the six anterior upper and lower teeth. Then the sum of the horizontal and the vertical enlargement components was made.\nThe first component measured the degree of gingival thickening (horizontal enlargement) labially and lingually by means of a three-point scale (0 = normal width, 1 = thickening up to 2 mm, and 2 = thickening of more than 2 mm). The second component measured the extent of encroachment (vertical enlargement) of the gingival tissues on the labial and lingual aspects of adjacent tooth crown; it ranged from 0 to 3 (from no clinical evidence of overgrowth to an overgrowth covering three-fourths of the tooth crown). Likewise, a total of 20 papillae are examined, presenting a potential maximum GO score of 100, which could be expressed as a percentage [].\nThe gingival overgrowth is considered as clinically significant if the GO score is ≥30% [].\nIn the present case report, the GO score was 30.5%, so that it was classified as clinically significant gingival overgrowth.\nA suitable probing revealed deep pockets with negative recessions, due to the gingival overgrowth (indicating coverage of clinical crowns ≥ 2 mm). Underlying calculus was localized mainly at the anterior teeth. The pocket values and clinical attachment loss varied from 5 to 7 mm and from 2 to 3 mm, respectively.\nX-ray examination showed a marginal (coronal third) horizontal alveolar bone loss which was more pronounced at the lower incisors (). So the patient had a periodontitis beside the gingival enlargement.\nThe final diagnosis was CsA-induced gingival overgrowth with underlying localized moderate periodontitis stage II grade B. The periodontitis was classified according to the new classification system of periodontal diseases and conditions from the American Academy of Periodontology and the European Federation of Periodontology 2018 [] (Tables and ).\nThe management strategy consisted of a nonsurgical periodontal therapy based, initially, on oral hygiene instruction. On the second-time round, a full-mouth scaling and root planning were performed a week later as well as polishing of all the rough dental surfaces. Extraction of the remaining root of tooth #26 was done at the same appointment.\nThe treatment was conducted under appropriate antibiotic prophylaxis based on amoxicillin plus clavulanic acid 1 g (intraoral) 2 times per day for 8 days as suggested by the patient's nephrologist. The antibiotic prophylaxis was performed in order to cover the infectious risk related to the systemic health status.\nTwo months after the periodontal treatment (hygienic phase), the clinical evaluation showed a successful regression of the inflammation and improvement of periodontal parameters. We have noted a reduction of pockets' depth and plaque and gingival index scores which become, respectively, PI: 0.5 and GI: 0.8.\nThus, a supportive therapy was established including the reinforcement of oral hygiene instruction and full-mouth scaling every 2 months. The whole treatment resulted in the total disappearance of gingival overgrowth without any surgical procedure. The last clinical and X-ray evaluation after 2 years of regular follow-up shows the good stability of the results (Figures –). |
A 60-year-old woman presented with severe headache and visual loss in the left eye for 2 days. Initially having the headache at the left temporal region and around the left eye, she had developed the visual loss in the left eye after a few hours. The patient denied having pain on eye movement, fever, jaw claudication, or weight loss. She also reported no history of autoimmune diseases or recent trauma.\nThe patient went to her primary care hospital. A computed tomography (CT) scan of the orbit revealed a left orbital-apex mass adhering to the left superior rectus and medial rectus muscles and a right orbital apex mass []. She was diagnosed as having an orbital pseudotumor and was referred to our hospital for further management. Her visual acuity in the right eye was 20/40 and counting fingers in the left eye. An eye examination found a relative afferent pupillary defect as well as a mild limitation of the lateral rectus movement in the left eye. There was no lid swelling or proptosis, and the fundus and disc appeared normal. We observed that the patient also had a blue–green soft nodule on her left cheek []. We reviewed her CT scan and noticed a homogeneous lesion on her left cheek []. Consequently, we thought the cheek lesion might be a hemangioma related to her orbital lesions. We requested magnetic resonance imaging (MRI) of the brain and orbit.\nThe MRI scans revealed an ill-defined intraconal mass at the medial portion of the left orbit causing a lateral pressure effect on the left optic nerve. The mass had an iso-to-low signal intensity (SI) on T1W, a low SI on T2W, and peripheral patchy enhancement. The mass involved part of the left superior oblique and left medial rectus muscles. However, part of the central portion showed a particularly low SI on T2W without enhancement, which was suspicious of a hemorrhagic component. Moreover, there was another small, lobulated, intraconal nodule at the right orbital apex that had a low SI on T1W and a high SI on T2W with homogeneous enhancement. It was located just lateral to the right optic nerve without intraocular muscle involvement [].\nA neurosurgeon was consulted for tissue diagnosis and management of the lesion in the left orbit. The patient underwent left craniotomy and orbitotomy with the aid of CT navigation. The finding was a pink, ill-defined, soft, sticky, and easily bleeding mass at the medial region of the left orbital apex. There were some old blood clots and a few large blood vessels supplying the mass. The mass adhered to the left medial rectus muscle, the left superior oblique muscle, and the optic nerve. Tumor removal was performed. The pathology showed collapsed, thin-walled, vascular channels associated with a dilated area containing organized thrombus, all of which were compatible with a hemangioma with an intralesional hemorrhage []. The patient was diagnosed as having a CVM with an intralesional hemorrhage at the left orbital apex. Two days after the surgery, her vision improved from counting fingers to 20/500 in the left eye. The best-corrected visual acuity of the left eye 20/50 was achieved 1 month postoperatively, and there was no pain nor any limitation of the patient's eye movement. She attended all follow-up sessions. Two years after the procedure, her visual acuity was 20/25 in both the eyes. An MRI scan at that time revealed no change in the CVM in the right eye and no residual tumor in the left eye. |
A 64-year-old right handed male with a university degree in arts presented to the neurology service with the chief medical complaint of behavioral changes slowly progressing over the course of the past seven years. Initially the patient experienced an insidious onset of decline in work productivity and gradually stopped working within the space of a year. Meanwhile, his family also noticed a short-term memory deficit primarily evidenced by difficulty remembering messages he was supposed to give to his wife, as well as not being able to name some specific objects. In the ensuing years the symptoms kept worsening while new behavioral and motor changes such as apathy, irritability, aggressiveness, delusional thoughts, psychomotor and gait slowing were contributing to progressive cognitive impairment. There were also reports of paroxysmal events characterized by self-limited episodes of experiencing unpleasant smells that lasted for seconds to a few minutes.\nThe patient had consulted several physicians during the course of the disease. He was diagnosed with bipolar disorder by a psychiatrist with the report of accelerated thinking at the time, and was treated with olanzapine and valproate without any significant improvement. A neurosurgeon diagnosed normal pressure hydrocephalus and performed a ventriculoperitoneal shunt with no apparent symptomatic relief.\nAt a later stage, he presented to the Neurology Department of the University of São Paulo with the main complaint of worsening delusional thoughts. The patient stated that his wife had been substituted by a perfect copy of herself, that the house he was living in only resembled his original property, and the city's most famous avenue had been duplicated in two identical copies.\nPast medical history was relevant for Pulmonary Abscess, Hypertension, Depression, Diabetes and former tobacco and alcohol abuse. He had an unremarkable family history. Prescribed medications were Carbamazepine, Olanzapine, Sertraline and Clonazepam.\nNeurological examination was remarkable for a cognitive impairment characterized by dysexecutive syndrome (inappropriate digit span, low fluency verbal test, impairment of abstract thinking and problem solving, inadequate clock drawing test), psychomotor slowing and inappropriate behavior. The Mini-Mental State Examination test score was 26 out of 30 (dropped 1 point in spatial orientation and 3 in recall). Glabellar and palmomental primitive reflexes were markedly present as well as inhibitory paratonia, demonstrating frontal release signs.\nBased on initial impressions, the clinical presentation was attributed to LE (short-term memory impairment, temporal lobe seizures and behavioral abnormalities) of protracted course associated with a delusional misidentification syndrome (Capgras Syndrome concomitant to Reduplicative Paramnesia).\nThe patient was then admitted to the neurology ward for extensive investigation. General laboratory tests were unremarkable, serology for common infectious diseases were negative (HIV, Syphilis, Lyme, Cytomegalovirus, Herpes Simplex), Antinuclear Antibodies (ANA) were positive in high titers (1:2560) but the remaining rheumatologic panel was unrevealing (AntiSm, Anti-Ro, Anti-La, Anti-dsDNA). Brain Magnetic Resonance Imaging (MRI) revealed high signal intensity on T2/ FLAIR in the left temporal pole and left mesial temporal region. Cerebral spinal fluid (CSF) was relevant for moderate lymphocytic pleocytosis (85 cells/mm3), elevated protein levels (116mg/dl), normal glucose levels (56 mg/dl), negative flow cytometry for malignant cells, and negative infectious markers (cultures for bacteria and fungi, Syphilis, Tuberculosis, Herpes Simplex, Varicella Zoster, Cytomegalovirus, Epstein Barr Virus). Positron Emission Tomography (PET) with fluorodeoxyglucose (FDG) disclosed hypermetabolism in the left mesial temporal region and peri-insular cortex, as well as severe and diffuse hypometabolism in frontal, parietal and lateral temporal cortices. Electroencephalography showed diffuse slow waves (theta and delta) without epileptiform activity.\nWhile the aforementioned initial work-up was being performed, the patient was started empirically on acyclovir, ampicillin and fluconazole for 14 days. Following the negative results for infectious agents associated with the clinical picture, temporal lobe abnormalities on advanced neuroimaging studies and poor response to antimicrobials, the hypothetical diagnosis of Autoimmune LE was strengthened. The patient received methylprednisolone 1 gram daily for five days without significant improvement and investigation for a paraneoplastic syndrome was continued. Tests for autoantibodies associated with neurological paraneoplastic syndromes in serum and CSF were negative (Anti-Hu, Anti-Ri, Anti-Yo, Anti-Ma2, Anti-NMDAR, Anti-VGKC, Anti-GAD, Anti-TPO, Anti-TG). Computed Tomography (CT) of the neck, thorax, abdomen and pelvis disclosed no significant findings. Ultrasound of the testicles was also normal. However, whole-body FDG-PET revealed an anomalous increase in glycolytic metabolism in cervical external inguinal and iliac portacaval lymph nodes. A cervical lymph node biopsy was performed but anatomopathological study showed nonspecific neutrophilic inflammatory reaction and absence of signs suggestive of malignancy. The patient was then discharged for clinical follow-up scheduled over the next few months.\nTwo months following previous hospital admission, the patient exhibited progressive worsening of cognitive and behavioral symptoms and therefore another work-up for occult malignancy was undertaken. The repeat whole-body CT scan disclosed enlarged mediastinal, hilar, cardiophrenic and axillary lymph nodes. The hypothesis of lymphoproliferative disease was proposed and the patient was admitted to the hematology ward for fine-needle aspiration of the axillary lymph node. Papanicolaou and Giemsa-stained cytology slides, and the cell block preparation from the sample material, showed morphologic features of a large cell lymphoma: intermediate-to-large sized cells, nuclei of different sizes and shapes, clumping artifact of naked nuclei, frequent mitosis and apoptotic bodies. Immunophenotyping showed a B-cell phenotype with a high Ki-67 labelling index (). The tumor cells were negative for CD 3, CD 30 and pan-cytokeratin AE1/AE3. In light of these immunohistochemical results and morphologic features, the diagnosis of diffuse large B-cell lymphoma was reached. After the procedure, the patient acquired a nosocomial respiratory infection followed by septic shock and evolved to death. |
A 22-year-old Caucasian female, nulligravida, presented to our institute (a tertiary referral center) complaining of a slowly growing painful mass at the right lateral neck. Past medical history included a resected desmoid tumor with free surgical margins from the same region six months ago in another center (). No other comorbidities were reported. Her family history included mother with systemic lupus erythematosus. Physical examination revealed a hard, tender, palpable mass over the upper half of the right SCM, painful head rotation, and right upper extremity extension but no other sensory deficits or motion restrictions.\nMRI revealed an enhancing mass at the cephalic third of the SCM, in close contact with the right IJV, with no signs of vessel infiltration (). No pathologic cervical lymph nodes were detected by MRI and ultrasound tomography.\nGiven her past medical history, imaging findings, and clinical presentation, the patient was scheduled two months later for surgical excision of the tumor recurrence under general anesthesia. Access to the surgical field was via an oblique right lateral neck incision. The neoplasm was found to originate from the upper portion of the SCM, extending to the parapharyngeal space, and infiltrating the SAN (). A wide excision was performed, including the upper two-thirds of the SCM, the tumor extension to the prestyloid parapharyngeal space, the stylohyoid muscle, and part of the styloid process. The completely thrombosed ipsilateral IJV was ligated and excised. Intraoperatively, it was deemed impossible to dissect the SAN free from the neoplasm and so it had to be sacrificed. However, remaining length of the nerve was satisfactory, and a microsurgical end-to-end anastomosis was performed (). A close suction drain was placed, and the wound was closed in layers. Patient recovery from the operating room was without any incidents.\nThe patient was discharged on the second postoperative day in good condition. The range of right upper extremity extension was limited, and the patient was referred for physiotherapy.\nMicroscopically, the tumor consisted of fascicles of uniform elongated fibroblast-like cells, surrounded and separated by abundant collagen, with no cell-to-cell contact. Neoplastic cells had sharply defined nuclei with one or more delicate nucleoli and poorly defined cell borders often merging with the extracellular collagen. Regenerative multinucleated skeletal muscle cells were found in the periphery of the lesion. Mitotic activity was typically low (2 mitoses per 10 HPFs) without atypical mitoses. Immunohistochemically, neoplastic cells stained vimentin (), smooth muscle actin (), and desmin () and were negative for CD34. β-Catenin nuclear staining was also present (). The index of proliferation Ki-67 was 1-2%. Focally close excision margins were noted at the parapharyngeal border of the biopsy specimen.\nOn the 3-month postoperative follow-up, no clinical signs of tumor recurrence were noted, and the right upper extremity mobility was satisfactory, indicating successful anastomosis of the SAN. Unfortunately, on the 6-month follow-up, local pain and swelling indicated new tumor recurrence which was confirmed by MRI. The case of our patient was brought to the Oncology Board. Unanimously, it was agreed that a wait-and-see policy was not a sound option and some kind of treatment should be administered since the tumor recurred within six months. Based on imaging findings, excellent performance status of the patient, and our experience as a tertiary referral center on head and neck surgery, excision of the new tumor recurrence was considered as the primary treatment modality. RT was also recommended, but given its long-term side-effects and the proximity of neural structures to the tumor bed, it was considered as an alternative option. Cytotoxic agents, tyrosine kinase inhibitors, and hormonal therapy were considered but discarded, given the reproductive age of our patient and the absence of contraindications for surgery or RT. The patient declined the option of further surgery but elected for RT and received 54 Gy of external beam RT over six weeks. Treatment was well tolerated. After the completion of RT, complete clinical remission of the disease was noted. No evidence of recurrence has been detected on clinical evaluation and imaging studies after twelve months of follow-up. |
A 24-year-old male with HA was admitted to our department with pain in multiple joints on May 23, 2011. The patient had a medical history of hemophilia A since the age of 3 and was intermittently treated with factor VIII. During these years, he sequentially developed left knee, left elbow, left hip, and right knee joint pain and swelling with limited activity and was soon diagnosed as HA. Initially, the joint manifestations could be largely relieved by factor VIII replacement therapy. Factor VIII inhibitor screening remained negative. Later, factor replacement therapy failed to achieve satisfactory effects, so in 2002 and 2006, he received left elbow synovectomy and left total hip arthroplasty, separately. In the subsequent years, the patient still suffered from the recurrent episodes of left elbow and bilateral knee joints hemorrhage, pain, and swelling. In recent 2 years, the frequency of joint hemorrhage had increased to approximately 2 times a week and only slightly relieved after factor VIII replacement therapy. Currently, the activity of those joints was limited to various degrees. Other medical history involved 2 cerebral hemorrhages 18 and 15 years ago, separately.\nOn physical examination, significant tenderness was noted in the left elbow joint with limited pronation and decreased grip strength. The preoperative Mayo elbow performance score (MEPS)[ was 55 for the left elbow. Moreover, knee valgus (left 20° and right 15°) was noted, and hyperextension, hyperflexion, and positive grinding test results were noted in both knee joints with a swollen and warm right knee. The preoperative Hospital for Special Surgery (HSS) knee scores[ were 58 for the left knee and 65 for the right knee.\nBilateral knee joints and left elbow joint exhibit advanced arthropathy on radiographs (Figs. A and 2A). These joints present narrowing of joint space, erosions of the articular facets, and bone deformation to various degrees.\nOur diagnosis was hemophilia A and HA of the left elbow joint, both knee joints, and left hip joint. The patient received left elbow synovectomy and left total hip arthroplasty, but the condition continued to deteriorate over time with worsening of the left elbow and both knee joints. Taking all of these factors into account, surgical methods were our top priority, and simultaneous total multi-joint replacement was indicated. Due to the complicated joint lesions and medical conditions, our preparations for this arthroplasty were far more sufficient than usual. Given that arthroplasty for patients with hemophilia A, particularly the simultaneous replacement of multiple joints, is challenging, the patient and his family were informed in detail of the possible benefits and risks of the surgery. We performed a full musculoskeletal assessment and thorough medical evaluation beforehand. Blood products were prepared for possible bleeding events. Then, our team performed bilateral total knee arthroplasty (Zimmer NexGen) and left total elbow arthroplasty (Zimmer) under tightly regulated factor VIII replacement therapy. Antibiotic prophylaxis was administered 30 minutes prior to surgery, and an additional dose was administered once during the operation. Local hemorrhage was carefully controlled to prevent secondary joint damage. Approximately 1800 mL blood was lost during the entire surgery. The patient received 900 mL blood by autotransfusion and 4 units of red blood cells plus 800 mL fresh frozen plasma by intraoperative infusion. During surgery, we observed hemarthrosis and villous synovial hypertrophy at the joints, and severe erosion of the articular surface and various degrees of bone deformation were noted. These findings confirmed the preoperative diagnosis and preoperative assessments. After surgery, hemostasis management, such as compressive bandage, factor VIII infusion, and rigorous monitoring of coagulation indicators, was performed. An early rehabilitation program was applied to achieve improved regain of function.\nWe managed factor VIII replacement therapy during perioperative period under the guidance of hematologists. On the day of surgery, 3000 U/12 h (the body weight of this patient is 63 kg) factor VIII (ADVATE) was administered intravenously followed by 2000 U/12 h on postoperative days 1 to 3 (POD 1–3). Then, on POD 4 to 6, a dose of 1500 U/12 h was administered followed by 1000 U/12 h over the following 6 weeks. Factor VIII inhibitor remained negative in perioperative tests.\nAt the follow-up, the patient's joints functioned well. The MEPS of the left elbow was 85, and the HSS score of knee joints were 71 (left) and 81 (right). On radiographs (3 months and 5 years after operation), the arthropathy of bilateral knee joints and left elbow joint was significantly relieved (Figs. B,C and 2B,C). |
A 21-year-old Hispanic male presented initially with increased pain in the middle back that radiated to both legs. A thorough neurologic exam was otherwise normal and a complete review of systems was negative. An magnetic resonance imaging (MRI) scan of the lumbar spine without contrast showed a well-defined lesion extending from the middle of the L1 vertebrae to the top of the L3 vertebrae as shown in . A laminectomy of the inferior portion of L1, all of L2, and the superior portion of the L3 lamina was performed. Upon opening the dura, unencapsulated tumor was found. Superficial tumor was removed and a deep dissection was performed revealing a deep tumor capsule that was removed in its entirety. Intraoperative pathology confirmed the diagnosis of myxopapillary ependymoma. Deep to the encapsulated portion, further unencapsulated tumor was found surrounding several nerve roots. A careful dissection was performed with intermittent, but not prolonged, firing of the gastrocnemius and anal sphincter noted on free-run electromyography (EMG). All visible tumor was eventually removed and a gross total resection (GTR) was presumed. Further histologic analysis showed no mitotic figures and no necrosis in the sample. After an uncomplicated post-operative course, the patient was discharged from the hospital on post-operative day 2.\nGiven that the piecemeal rather than en bloc GTR increased our concern for microscopic residual tumor, as well as the reported benefits of radiotherapy for MPE (discussed below), the patient was offered adjuvant radiotherapy. He was prescribed a total of 52 Gy in 26 fractions, using a dose painting approach in which the clinical target volume (CTV, defined as the postoperative cavity/pre-operative cranial-caudal extent of tumor) was prescribed 52 Gy in 26 fractions, and the planning target volume (PTV, defined as the CTV plus a 2 cm margin which encompassed the thecal sac from L1 to L3) was prescribed 49.4 Gy in 26 fractions. Radiotherapy was planned and delivered with the Tomotherapy® system (Accuray Inc., Sunnyvale, CA, USA) which allows the planning and delivery of intensity modulated radiotherapy (IMRT) via a helical delivery of megavoltage (MV) energy radiation, akin to a standard computed tomography (CT) scanner expect that therapeutic megavoltage radiation is delivered as opposed to kilovoltage diagnostic radiation, using a hydraulically controlled collimator to achieve modulation of the beam. This system also allows a MV CT scan to be performed prior to treatment to optimize accuracy of patient setup. The external beam radiotherapy (EBRT) was completed within 3 months following the initial surgery. Follow-up MRI scans of the lumbosacral spine were obtained 1, 6, 10, and 14 months postoperative. No scans showed any sign of recurrent or metastatic disease.\nNineteen months after the initial operation, the patient presented for routine follow-up with no complaints, a negative review of systems, and no abnormal physical exam findings. Spinal MRI with contrast showed the development of an enhancing lesion at the S1-S2 level at the tip of the thecal sac consistent with drop metastases; also noted was stable appearance of a linear enhancing lesion at the L2-L3 level as shown in . The last spinal MRI was five months prior and showed no evidence of this lesion. This new lesion developed far inferior to the previous radiation field.\nThe patient underwent a lumbosacral laminectomy from L5-S2. Following removal of the lamina between L5-S2 and the ligamentum flavum between L5 and S1, a firm tumor nodule was palpated between S1 and S2. An attempt to dissect the tumor was made, however, the tumor capsule had significant arachnoid adhesions involving multiple sacral nerve roots. This complicated the resection. Alternative angles of dissection were pursued, however sacral nerve adhesions were again found. The tumor was debulked, however, the capsule was unable to be removed due unacceptably high levels of intraoperative free-run EMG activity in the sphincter muscle. The dura was closed with visual tumor left behind. Pathology showed small bland cells forming perivascular pseudorosettes with intervening myxoid material, shown in . The morphology was similar when compared to previous resection material and determined to be consistent with recurrence. A Ki-67 stain showed a tumor proliferative index of 4-9 percent. The patient remained in the hospital for three days and at the time of discharge had no neurological deficits.\nOne month following the operation, the patient started his second course of EBRT; at that time, he felt well, with absolutely no symptoms and no neurological deficits on physical examination. He was again treated with Tomotherapy®; the CTV was prescribed a dose of 54.0 Gy in 27 fractions, while the PTV was prescribed a dose of 50.5 Gy. The PTV extended from inferior lumbar region to the superior two-thirds of the sacrum, with the superior extent of the PTV at the middle of the L4 vertebral body. IMRT was used to minimize dose to nearby sacral nerve roots that could potentially result in bladder incontinence, impotence, or bowel incontinence. During EBRT he developed nausea, as an expected complication, that was treated with prochlorperazine. Otherwise treatment was well tolerated and he completed as planned.\nFive months following the completion of radiotherapy, the patient followed up with radiation oncology. The patient had no complaints and a negative review of systems, including no bowel or bladder incontinence reported. A physical exam showed no abnormalities. An MRI with contrast noted the initial laminectomy at L2-L3 was unchanged, with a linear intradural enhancement seen consistent with MRI taken prior to surgery and radiotherapy. Fatty marrow changes were seen in lumbar vertebrae and attributed to post-radiation change. Evidence of the L5-S2 laminectomy was noted with an irregular heterogeneous enhancement seen at the surgical site. No definite residual mass was seen at the S1-S2 level. The patient is now over 48 months since initial diagnosis and 27 months since his second surgery and has no radiological or symptomatic evidence of tumor progression on continued follow-up. |
A 4-month-old female infant presented to the Strabismus and Pediatric Ophthalmology Center in Tianjin Medical University Eye Hospital with sudden burst of a pink neoplasm in the right cornea and blepharospasm for one day. Previously, the patient had already been diagnosed with corneal dermoid in another hospital on postnatal day 7. She could fix and follow small toys with her left eye while patched the right eye, but cried loudly when the left eye was covered. A brownish-black hemispherical neoplasm (diameter, 4.5 mm) was observed in the center of the right cornea (Fig. ) with surrounding stromatic edema and extremely flat anterior chamber. In addition, a mild ciliary injection was observed in the right eye, with a much larger cornea (diameter, 12.0 mm). The anterior synechia of the iris was obviously beneath the lesion of the cornea, while the other internal structures of the right eye were not clearly visualized. The cornea of the left eye (diameter, 11.0 mm) was clear and no abnormality was found. Color Doppler ultrasonography was performed for the right eye under sedation, which revealed that the eyeball was intact, while a crumby lesion that linked the cornea and the iris was observed in front of the crystalline lens; however, the vitreous cavity was clear and no abnormality was found in the posterior segment (Fig. ).\nThe infant was the second child delivered normally by the mother at full term. General physical examination of the infant revealed no other noticeable abnormality. However, the mother had a history of repeated upper respiratory tract infection during the pregnancy.\nTobramycin eye drops were used four times a day to prevent infection in the right eye of the infant after admission. The corneal neoplasm in the right eye turned red on the next day (Fig. ); however, the volume of the lesion was apparently unchanged. The infant calmed down, and the symptoms of eyelid irritation disappeared. Initially, the baby was suspected to be suffering from corneal perforation, Peters’ abnormality, and congenital glaucoma. A surgical exploration on the right eye was performed under general anesthesia on day 4 after admission. During the operation, a red, firm, solid mass with dilated small vessels was found on the surface (Fig. ). No weakening or perforation was observed in the cornea. The protuberant part of the mass was excised, revealing the wound with a boundary that clearly differentiated it from the surrounding corneal tissues. The residual mass had a spiral-shaped presentation, while no distinct pigment tissue was found (Fig. ). Anterior chamber paracentesis was performed at 11 o'clock position of the limbus, and only a little aqueous fluid flowed out. Considering the possibility of pupillary block caused by anterior synechia, peripheral iridotomy was also performed. TobraDex eye ointment was applied to the eye, followed by eye patching. The mass was sent for pathological examination postoperatively.\nConventional hematoxylin & eosin staining revealed multilayers of well-differentiated mature squamous epithelia on the surface of the mass; however, the cells on basal layer were well arranged, without atypia. Numerous fibroblast-like cells were observed, with a small amount of mature collagen fibers and blood vessels (Figs. and ). The tumor cells were spindle-shaped, and arranged irregularly. These cells were eosinophilic and full of cytoplasm, and the nuclei were oval or fusiform, and lightly dyed without obvious atypia or mitosis. Some cells showed slender cytoplasmic protuberances that connected with collagen fibers. In addition, scattered brown pigment particles were observed among the tumor cells. Immunohistochemical staining showed strong expression of vimentin and smooth muscle actin (SMA) in the tumor cells, while desmin was only partially expressed; however, no sign of S-100 protein or CD34 expression was found in these cells. In contrast, for vascular endothelial cells in the tumor tissues, CD34 was found to be positively expressed (Figs. ). Therefore, the pathological diagnosis for the lesion was myofibroblastoma in the cornea of the right eye. The parents were well informed and the baby was taken back to have a check every 3 months. At the 12-month follow-up, a scar was found in the cornea of the right eye, while the diameter of the cornea was not increased, and the intraocular pressure was normal (Fig. ). Color Doppler ultrasonography and magnetic resonance imaging (MRI) were performed for the right eye, which showed that the mass was restricted but connected with the cornea and the iris; the back boundary of the mass was in front of the crystalline lens, and no growth of the mass was observed (Figs. and ). |
A 36-year-old woman (height, 147 cm; weight, 50 kg) with CIPA was scheduled for revision of left total hip arthroplasty. She was diagnosed as having CIPA because of recurrent episodes of unexplained fever, anhidrosis, burns, and bone fractures after birth. She had previously undergone 7 operations for spinal deformity and 1 operation of total hip arthroplasty in both the left and right sides. Although lack of general diaphoresis and thermal nociception were observed, the patient performed body surface cooling at her own discretion when she felt she was at a risk of hyperthermia, and her body temperature was kept approximately 36°C. No signs of mental retardation or orthostatic hypotension were observed. No abnormality was detected on chest radiographs and electrocardiograms. Blood biochemistry revealed no abnormality except mild anemia indicated by a hemoglobin level of 10.6 g/dl.\nNo premedication was administered. After the patient was brought into the operating room, routine monitoring and measurement of the bispectral index (BIS) were started. Body temperature was measured at 3 different sites (urinary bladder, esophagus, and precordial skin) and controlled by a hot-air-type heater. Propofol was administered at an effect-site concentration of 4 μg/ml by target-controlled infusion. After muscle relaxation had been achieved by administration of 50 mg of rocuronium, the trachea was intubated. Immediately after endotracheal intubation, systolic blood pressure increased from 130 to 145 mmHg, and heart rate increased from 60 to 95 beats per minute (bpm). Two minutes later, systolic blood pressure had decreased to 125 mmHg. Propofol was continuously infused intravenously at a target concentration of 2 to 4 μg/ml () and BIS levels were maintained between 40 and 60. After an arterial catheter had been placed, her position was changed from the supine to right lateral position. Surgery was then started.\nSince no circulatory change associated with pain occurred during surgery, opioids were not administered. Regarding hemodynamics, when 600 ml of blood was rapidly lost within 20 minutes, blood pressure decreased from 113/66 to 93/55 mmHg and heart rate increased from 55 to 70 bpm ( a). Similarly, when 850 ml of blood was lost within 30 minutes, systolic blood pressure decreased from 108/65 to 95/60 mmHg and heart rate increased from 66 to 74 bpm ( b). Administration of 0.1 mg of phenylephrine increased blood pressure from 87/55 to 117/76 mmHg and decreased heart rate from 70 to 65 bpm ( c).\nThe operative time was 6 hours and 49 minutes, and the duration of anesthesia was 8 hours and 41 minutes. The volume of blood loss was 3350 ml. Blood transfusion was performed with 1600 ml of preoperatively donated autologous blood, 900 ml of salvaged blood, and 720 ml of fresh frozen plasma. Intraoperative body temperature was controlled and kept between 36.0°C and 36.9°C at all 3 measurement points. After surgery had been completed, the patient was returned to the supine position and she was extubated. Since she did not complain of any pain after the surgery, no analgesic was administered. She was discharged at 6 weeks after the operation.\nBlood samples were collected 3 times: before anesthesia induction, after the start of surgery, and at the end of surgery. The levels of catecholamine fractions and cortisol were measured. Norepinephrine levels were below the normal range at all time points, and the levels of epinephrine and cortisol were within the normal ranges at all time points (). |
In 2013, an 11-year-old Japanese boy was referred to our department for painless bone expansion in the right maxillary alveolus, delayed eruption of the permanent second molar teeth, and altered occlusion. He had no significant medical or family history. A panoramic X-ray showed a unilocular cystic lesion in the right maxilla containing a calcified large mass associated with an impacted tooth (Fig. ). Computed tomography showed a cystic lesion of size 3.6×3.1×2.7 cm that included calcified structures (Fig. ). A horizontal view showed right maxillary bone expansion (Fig. ).\nIn 2013, the patient underwent tumor extirpation combined with impacted tooth extraction. The incisional line was started from the labial mucosa in the right maxillary central and lateral incisor area. It extended to the gingiva in the right maxillary lateral incisor and canine area by arch-like incision, and to the gingiva of the right maxillary second molar by crestal incision with distal releasing incision. The goal of this procedure was to make a mucoperiosteal flap from the lower border of the pyriform aperture, vertically to the infraorbital foramen and surrounding areas, and horizontally to the lower border of the zygomatic bone. The infraorbital neurovascular bundles were preserved. Upon opening of the sinus from a thin plate of bone in the canine fossa and surrounding areas in the anterior wall of the right maxilla (the same level as the lower border of the pyriform aperture), bone-like hard tissues that were strongly adhered to the maxilla were found. When these tissues were separated from the surrounding areas and removed using a fissure bar, a solid, bone-like, hard odontogenic tumor (similar to a complex odontoma) was found to have occupied almost the whole sinus. The mass was too large to remove from the opening.\nFor complete removal of the mass including the tumor capsule, which was adhered to the surrounding bone, the tumor was divided into several pieces using a fissure bar (Fig. ). There was an unerupted permanent tooth in the posterior part of the maxillary sinus anterior wall directly above the tumor resection site. This tooth appeared to have been pushed up by the tumor. It deviated from the dental arch and was included in the tumor body. This made preservation difficult, and the tooth was extracted (Fig. ). A part of the root apex of the right maxillary first molar protruded through the tumor resection site, and conservative treatment was applied because of the patient’s age. There was no tooth germ of the unerupted second molar in the tumor resection cavity. There was access between the sinus and the tumor resection cavity, but there were no signs of maxillary sinusitis, which allowed use of conservative treatment. After hemostasis was confirmed, the incision was stitched closed. After the tumor extirpation, the wound was sutured with VICRYL absorbable stitches (Ethicon, Somerville, NJ, USA). Examination of the surgical specimen showed that the lesion consisted of various hard tissues, including a tooth-like structure (Fig. ). A histological examination indicated the presence of a mixture of dentin and enamel with a radial structure (Fig. ). Fibrous tissues were observed between the hard tissues, which suggested mild mononuclear cell infiltration. Furthermore, the hard tissues were covered by fibrous tissues, and odontogenic epithelial-like cell structures were externally elongated from the inside to the outer boundary of the hard tissues. A palisade arrangement of cylindrical cells was seen in the margin of the odontogenic epithelial-like cell structures, and stellate cells had proliferated in the alveolar structures (Fig. ). Cellular atypism was unremarkable, and there were few Ki-67-positive cells. These features confirmed the diagnosis of an OA. The histopathological diagnosis was OA.\nNo recurrence was noted at 27 months after the operation. The patient has undergone postoperative occlusal guidance and functional orthodontic treatment, and his postoperative condition is excellent. |
A 32-year-old man visited the outpatient clinic for left knee pain and swelling that occurred after falling on the stairs. On physical examination, there was lateral joint line tenderness, and 40 cc of bloody discharge was aspirated by hemarthrosis. The patient was a courier driver, and he had no history of alcohol or tobacco use. There were no underlying diseases such as hypertension or diabetes. The patient's height was 180 cm, his weight was 118 kg, and his body mass index (BMI) was 36.4, which was class III obesity.[ On magnetic resonance imaging, a lateral meniscus flap tear was observed, and surgery was scheduled. The operation was performed with tourniquet inflation up to 300 mm Hg under general anesthesia. The patient's obesity was so severe that it was not easy to secure the joint space, and the operation took longer than expected. Tourniquet time was 62 minutes and total operation time was 80 minutes. A complex meniscal tear with horizontal and radial tears from the mid body to the posterior horn was observed (Fig. ), and repair was performed after marginal debridement using both inside-out and all-inside techniques (Fig. ). The patient had no comorbidities other than high BMI, no vascular diseases, and did not take antithrombotic drugs or hormones. None of his family members had a history of VTE. After surgery, a long leg splint was applied, and a nonweight bearing position was maintained. Straight leg-raising exercises were performed from the day after surgery to strengthen the quadriceps muscle. Similar to other arthroscopy patients, thromboprophylaxis medications were not administered. The patient was scheduled to be discharged on the second day after surgery, but due to personal reasons, the discharge was changed to day 6. The patient remained in the hospital without any specific symptoms until day 4 after surgery.\nOn day 5 postoperative, the patient complained of dyspnea, chest discomfort, and nausea abruptly after standing, and these symptoms were not alleviated after returning to bed. His temperature was 36.7°C, heart rate 95 beats per minute, respiratory rate 20 breaths per minute, blood pressure 80/50 mm Hg, and oxygen saturation (SaO2) 100%. On electrocardiography, there was sinus rhythm but also ST segment elevation on anterior leads. Echocardiogram was performed and showed no significant abnormal signs. On laboratory results, there was increase in fibrinogen and d-dimer, antithrombin III, and fibrinogen degradation production, while cardiac markers were within normal range.\nThe patient had symptoms related to PTE but did not show DVT symptoms such as calf tenderness, swelling, or Homan's sign. On DVT and PTE computed tomography, there were multifocal PTEs in the distal portion of the main and segmental branches of both pulmonary arteries (Fig. ). There were focal DVTs of the left deep femoral vein, as well as small DVTs in the left popliteal and calf veins (Fig. ). We immediately referred the patient to the respiratory internal medicine and vascular surgery department for management. After 3 days of low-molecular-weight heparin 1 mg/kg every 12 hours, treatment was changed to an oral drug, Pradaxa (dabigatran, Boehringer Ingelheim GmbH, Ingelheim, Germany) 150 mg bid and used continuously for 6 months.\nThere were no DVT findings on DVT sonography at 3 and 6 months postoperative. There were no PTE findings on DVT and PTE CT at 6 months postoperative. The patient has not complained of symptoms related to PTE or DVT at 6 months after the operation, has returned to work, and is living without discomfort. |
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