text
stringlengths 746
31k
|
|---|
A 9-day-old boy presented with a history of increased work of breathing and cyanosis. He was born at 40 weeks gestation via vacuum extraction for fetal distress. His birth weight was 3.0 kg with normal Apgars and did not require any resuscitation. Meconium-stained liquor was noted at delivery. He was discharged home at 48 h of age. Antenatal ultrasound at 22 weeks of gestation demonstrated hyper-echoic changes in the thorax and abdomen which did not progress throughout pregnancy. At presentation to the hospital, he was in moderate respiratory distress and was commenced initially on continuous positive airway pressure, but he required mechanical ventilation for respiratory deterioration in the 2nd week of life. He had a normal white cell count and C-reactive protein. Blood cultures were negative. CMV was detected by polymerase chain reaction (PCR) in urine and blood, and in endotracheal aspirate samples. In addition, stored blood samples (from newborn screen) taken on day 2 of life were also positive for CMV by PCR. CMV immunoglobulin M antibody was also positive. A head ultrasound demonstrated diffuse peri-ventricular calcification. A chest computed tomography (CT) scan was performed [Figure –]. Flexible bronchoscopy and echocardiography were normal.\nDue to an ongoing requirement for mechanical ventilation associated with left mediastinal shift and lung compression from an overinflated right middle lobe (RML), the child had a RML lobectomy [].\nPathology revealed a bronchocele with an 11-mm mucus plug [] in a sub-segmental bronchus of the RML. Although bronchi were seen to arise from the cyst and communicate with the distal lung causing marked over-inflation, no direct continuity was identified between the bronchocele and proximal bronchi. Cytomegalovirus inclusions with minimal surrounding inflammation were noted on microscopy of the peripheral lung.\nAfter excision of the RML, the patient was extubated and gradually weaned off oxygen. However, following anesthesia for a central line placement at 1 month of age for a 6-week course of ganciclovir for cCMV infection, he developed further respiratory distress. A repeat CT scan demonstrated persistent hyperinflation of the residual right lung, especially the right lower lobe. Instead of further lobectomy with permanent loss of lung mass, right lung volume reduction surgery was performed. There was subsequent marked clinical improvement and he was discharged home aged 3½ months and continues to thrive with no respiratory distress. |
A 54-year-old man with a clinical diagnosis of herpetic keratitis had undergone penetrating keratoplasty in the left eye 6 years previously for recurrent keratouveitis, which resolved after periodic treatment with ACV ointment and a topical steroid. The patient had ocular pain and redness in his left eye and periodically received topical antibiotics and a steroid for 1 month; however, the symptoms gradually worsened despite treatment, and he was referred to our clinic. The best-corrected visual acuity in the affected eye was 20/2,000 and the intraocular pressure was 10 mm Hg. Slit-lamp examination showed a small abscess with corneal erosion in the peripheral donor cornea that manifested as a suture abscess with corneal infiltrates, mild ciliary injection, and no anterior chamber inflammation (day 0; fig. ). The sensitivity of the left cornea decreased to 20 mm compared with 60 mm in the right eye. The right eye was normal. The suture at the focus was removed and wide corneal scraping was performed for cytopathologic examination and culturing to detect pathogenic microorganisms such as bacteria, fungus, or Acanthamoeba. Real-time PCR analysis was performed to detect human herpes viruses (HHVs; HSV type 1 or 2, varicella zoster virus, Epstein-Barr virus, cytomegalovirus, and HHV-6, −7, and −8) [, ]. Only Candida albicans was identified by culturing.\nThe patient was diagnosed with fungal keratitis and treated with topical 0.2% fluconazole hourly and 1.5% topical levofloxacin 3 times/day for 2 weeks. The ocular pain gradually decreased and the lesions slowly improved (day 14; fig. ). However, the lesion recurred and increased, showing a similar clinical appearance despite the same antifungal treatment (day 21; fig. ). Because of the unresponsiveness to the antifungal agent, a second corneal scraping was obtained to repeat the same microbiologic examinations. Light microscopy and the cultures were negative for pathogens including C. albicans. The PCR results were positive only for HSV-1 DNA (3.4 × 104 copies/sample). Based on these positive PCR results for HSV-1 DNA and the past clinical background, the patient was suspected of having HSV keratitis and was treated with 3% topical ACV ointment 5 times/day and 0.5% topical levofloxacin 3 times/day for 2 weeks. However, the necrotizing lesions did not improve (days 28, 35; fig. , respectively). In the third scraping, only HSV-1 DNA (5.7 × 104 copies/sample) was detected.\nACV as a specific anti-HSV agent generally can improve the herpetic keratitis along with a substantial decrease in the HSV DNA copy numbers compared with before treatment; however, the HSV viral load in the current case did not decrease as a result of ACV treatment, and the only detected pathogen was HSV, indicating that the HSV detected in these lesions might be ACV resistant. Although this necrotizing focus was atypical of the clinical appearance of ACV-resistant HSV keratitis reported previously [, ], we suspected that this focus was induced by ACV-resistant HSV based on this diagnostic concept in addition to negative results for other pathogens including C. albicans. We substituted topical 1% trifluorothymidine (TFT) solution, which was reported to be effective for ACV-resistant HSV keratitis [, ]. The ocular pain gradually decreased, and the lesions slowly improved. Real-time PCR of the epithelial scraping obtained 2 weeks after the start of TFT therapy did not detect HSV-1 DNA (day 49; fig. ), and by day 70, the keratitis had healed with corneal scarring (fig. ). There has been no recurrence at 1 year. |
A 22 year old man had tuberculous adenitis in the left side of his neck; this softened and was aspirated. The aspirated pus showed tubercle bacilli. Four years later, he developed a generalized enlargement of lymph-nodes, affecting the cervical, axillary, and inguinal group of lymph nodes; a node removed for biopsy showed noncaseating epithelioid-cell tubercles. The spleen was easily palpable. After one year, he developed iridocyclitis in the right eye. A chest radiograph showed bilateral hilar lymph node enlargement, with diffuse fine mottling mainly in the middle zones of both lungs. A tuberculin test gave a moderate reaction to 100 t.u. Over the next six months, all these manifestations gradually subsided, the lymph nodes and the spleen were no longer palpable, the eye was free from inflammatory changes, and the chest radiograph was clear. He remained quite well, when a lymph node swelling appeared again in the left side of the neck. The skin now reacted to 10 t.u. with an area of induration 20 × 20 mm. He was treated with isoniazid and p-aminosalicylic acid (P.A.S.). The lymph node softened and sterile pus was aspirated from it; after this the adenitis subsided completely, and the patient has remained well since then.[]\nAn 18 year old woman was observed at a chest clinic for four years as a contact of her husband, who had been found to be suffering from pulmonary tuberculosis. The chest radiograph of the woman remained clear, but their son born during this time was found to have skin sensitivity to tuberculin at the age of one year. The woman was first seen at the Brompton Hospital in January 1956, because a small area of faint mottling had been found in the upper zone of the right lung in a chest radiograph. Sputum examination at this time produced tubercle bacilli on culture. In May 1956, she was admitted to hospital. Her skin reacted to 10 t.u. Tubercle bacilli was again found on culture and this time from a gastric lavage specimen. Treatment with isoniazid and P.A.S. was started, but the lung shadows slowly and steadily spread. She was readmitted in May 1958; the skin now failed to react even to 1000 t.u. Liver biopsy showed noncaseating tubercles. Prednisolone was added to the antitubercular drugs in June 1958, which resulted in rapid clearing of the radiographic shadows. However, after the prednisolone was gradually withdrawn and stopped in July 1959, she started to feel tired; and in October 1959, a radiograph showed some recurrence of the abnormal shadows.[]\nIn this case the sequence of events is striking; there was a steady and uninterrupted progression from exposure to tubercular infection, through the development of a localized lung lesion with tuberculin sensitivity and tubercle bacilli in the sputum, to a state typical of sarcoidosis, clinically, histologically, and in response to treatment. |
A 53-year-old African American male smoker with a history of hypertension presents with sharp epigastric pain extending to the lower abdomen, lower extremity swelling, shooting pain down the right arm, and black stools. Initial laboratories showed normal prothrombin time, international normalized ratio, hemoglobin, and hematocrit. Chest X-ray shows right perihilar mass with right pleural effusion []. Amylase and lipase levels are slightly elevated. A nasal gastric tube is guaiac negative, whereas rectal examination is stool guaiac positive.\nBronchoscopy for right hilar adenopathy shows narrowed airway, external compression of the anterior right upper lung, and erythematous right middle lung. The right upper and middle lobe biopsies and bronchoalveolar lavage are negative for malignancy. Mediastinal biopsy of 2R station mass showed that the sclerotic tissue is possible for amyloid. The scattered lymphocytes show no evidence of clonality on CD20 and CD3 immunostaining. The CT scan showed thickening of the parietal pleura and mediastinal mass with cuffing of the pulmonary artery and main stem bronchus []. To categorize the type of amyloid, Congo red staining with and without permanganate was ordered. Abdominal fat and bone marrow specimens displayed Congo red negative for amyloid. Sclerotic tissue from the mediastinal mass was positive for Congo red with and without permanganate digestion, leading to the initial diagnosis of amyloidosis []. Resistance of amyloid to the use of permanganate digestion would indicate an origin from a hematopoietic malignancy and light chain excess. Flow cytometric evaluation of mediastinal mass reveals predominantly T-cells with few polyclonal B-cells and no aberrant immunophenotype. Positron emission tomography scan shows uptake in right supraclavicular, paratracheal, and hilar region. Further serum protein testing reveals moderately increased gamma fraction. Light chain assay showed elevated kappa and lambda light chains. Serum protein electrophoresis and urine protein show no monoclonal spike, though there is diffuse polyclonal gammopathy. Diagnosis of AL amyloidosis of mediastinal nodes is made. |
A 38-year-old man visited our hospital complaining of anterior chest pain. He had no significant medical or family history, and the vital signs were stable. Ischemic events were not observed in electrocardiography, but chest X-ray and computed tomography (CT) showed a cystic lesion (6.0 × 7.0 × 10.0 cm) in the anterior mediastinum (Fig. a). Although the cystic capsule demonstrated contrast enhancement, its fluid component had low radiation absorbance. Based on these findings, we suspected the mass to be a thymic cyst. Blood tests indicated the presence of inflammation (white blood cell count 11,200/μL and C-reactive protein 3.38 mg/dL).\nTwo days after hospitalization, the patient developed dyspnea and his chest pain worsened. Subsequent chest CT showed that the cystic lesion had become inhomogeneous and the radiation absorbance of the cyst’s fluid component had increased (Fig. b). The cyst wall became thickened, and bilateral effusion was observed. Blood tests indicated that hemoglobin levels had decreased from 15.8 to 12.8 g/dL, and levels of inflammatory markers had increased, with the fever exceeding 38.5 °C. Needle aspiration biopsy and tumor wall biopsy with a small skin incision were performed; however, we could not obtain a diagnosis. One week after admission, general condition and laboratory data of the patient gradually improved. A chest CT on day 13 showed that the tumor had become small in size with a thickened wall (Fig. c). The effusion on the right side had decreased and that on the left side had disappeared.\nThe patient had recovered enough to undergo surgery; the tumor was resected by sternotomy on day 18. The tumor was found to be encased in a smooth, yellow, and elastic coat. The tumor was densely adhered to the junction of the left brachiocephalic vein and superior vena cava, and it was required to detach the tumor from the dense adhesion site carefully. The right phrenic nerve was preserved, and the right pleural effusion was serous. The tumor and thymic tissue were resected en bloc. The operative time was 288 min, and the estimated blood loss was 521 mL. The resected tumor was covered with a thick, fibrous capsule, and the lumen was filled with necrotic tissue and hemorrhagic material (Fig. a, b). The postoperative course was uneventful, and he was discharged on day 26.\nThe pathological findings showed a fibrotic cyst wall; the cyst was filled with necrotic tissue. The slight proliferation of lymphocytes was confirmed in the necrotic tissue and around the cyst wall (Fig. a, b). The tumor was diagnosed as type B1 cystic thymoma (Fig. c). As the tumor did not appear to have spread beyond the capsule, it was determined to be at Masaoka stage I. Nevertheless, the dense adherence of the tumor to its surrounding tissue indicated the possibility of invasion, and postoperative radiotherapy (50 Gy) was administered.\nTwo years after the surgery, recurrent metastasis of the tumor was found on the right pleura and the left upper lobe of the lung. The patient was treated with chemotherapy, radiotherapy, and local resection. The patient remains alive 12 years after the first surgery. Following an analysis of the tissue obtained from the resected recurrent tumor, the pathological diagnosis was changed to type B3 thymoma. |
The patient was a 41-year-old woman, gravida 0. She had notable medical history. Laparoscopic right salpingo-oophorectomy and left cystectomy were performed for bilateral ovarian endometriomas, which were both pathologically diagnosed as benign. After surgery, she underwent regular outpatient treatment with dienogest. Six months later, she presented with left lower abdominal pain and expressive aphasia. A 7 cm diameter cyst had formed in the left ovary, with a solid ingredient and surrounding ascites. Contrast-enhanced computed tomography (CECT) revealed peritoneal dissemination, multiple lymph node metastases, liver metastasis, pulmonary embolism, and deep venous thrombosis of the lower limbs. Brain magnetic resonance imaging (MRI) revealed that infarctions occurred at multiple locations in the bilateral cerebral hemisphere centered on the left frontal lobe and in the right cerebellar hemisphere. She was diagnosed with advanced ovarian cancer, accompanied by Trousseau's syndrome. She was hospitalized (Day 0) and received 10,000 units of heparin per day intravenously. On Day 11, she developed a left visual field deficit due to occlusion of the left retinal arterial bifurcation. On Day 17, she had vertigo and vomiting. Brain MRI showed new infarctions of the cerebellar vermis, left caudate nucleus head, and cerebral subcortex. On Day 26, the first chemotherapy was administered (paclitaxel 175 mg/m2 and carboplatin AUC5). On Day 29, a blood transfusion was performed for anemia due to digestive tract bleeding. On Day 30, she had chest pain. Myocardial infarction was suspected from ST elevation on electrocardiogram and hypokinesis from the anterior wall to the apex on echocardiography. Stent treatment must be combined with antiplatelet therapy, which could not be performed with the administration of heparin in the presence of gastrointestinal bleeding. Instead, she was administered an increased dose of heparin (20000 units per day) and isosorbide dinitrate. On Day 35, paralysis of the right upper and lower limbs appeared. Brain MRI showed occlusion of the left middle cerebral artery. On Day 49, the second chemotherapy was administered (paclitaxel 175 mg and carboplatin AUC5). On Day 66, she died due to multiple organ failure with no improvement of thrombotic symptoms.\nAn autopsy was performed. The results were as follows. A 12 × 8 cm solid mass was found in the left ovary, and it was identified as an endometrioid carcinoma G2 (Figures and ). Ovarian cancer directly invaded the uterus, bladder, rectum, sigmoid colon, small intestine, retroperitoneum, and left ureter. Metastases were found in the liver, spleen, lung, retroperitoneal, and perigastric lymph nodes. Severe cancerous peritonitis and cancerous pleurisy were found with bloody ascites (4000 ml) and bloody pleural effusion (left 400 ml, right 1000 ml). There was also the presence of a pulmonary embolism; a fibrin thrombus occluded the pulmonary artery in the left hilar region and a small thrombus in part of the right pulmonary artery (). In the heart, a 2.5 cm old chronic infarction with massive thrombus in the left ventricular apex was identified, and thromboembolism and recanalization in the anterior descending artery were noted (). In relation to the kidney, infarct in 2 × 1 cm size at the lower pole of the right kidney was present. There were three venous thromboses identified: 11 cm long and 9 cm long fibrin clots filling the left and right common iliac veins, respectively, and there was also a 5 mm diameter thrombus in the portal vein (). Multiple paraneoplastic thrombosis, in addition to severe cancerous peritonitis and pleurisy with abundant pleural effusion and ascites due to the development of ovarian cancer, leads to patient death. |
A 65-year-old woman was admitted to the ICU with acute respiratory distress and circulation insufficiency. Besides a history of Waldenstrom’s macroglobulinemia that had not required active treatment, she had no history of health problems, infections or recent hospitalisations. She was a lifelong non-smoker, lived in a rural home with her husband, and handled firewood for home heating. Four days prior to admission the patient noted fever, chills, dyspnoea with dry cough and diarrhoea. On the day of admission, these symptoms were more severe, and an ambulance had been called because of syncope. Her ability to oxygenate deteriorated progressively during the first hospital day, and she was intubated and mechanically ventilated.\nChest X-ray on admission showed bilateral diffuse lung infiltrates and signs of interstitial oedema. Large bilateral pleural effusions were noted, and >1000 ml were drained. Echocardiographic examination identified normal left ventricular wall motion, and no signs of structural abnormalities or of pulmonary hypertension. Thin-cut CT images of the lungs on the third ICU day showed diffuse bilateral alveolar and interstitial infiltrates with dependent consolidation (Fig. ). The clinical course during the first seven days was dominated by respiratory insufficiency requiring maximal ventilatory support with high levels of inspired oxygen, as well as circulatory shock requiring treatment with vasopressor and inotropic infusions. Other important clinical aspects included coagulopathy with diffusely spread petechiae, progression of renal failure with anuria requiring dialysis, and elevated levels of LDH (Table ). She was treated presumptively for bacterial pneumonia and sepsis with a series of broad spectrum antibiotics and corticosteroids, without apparent response.\nHantavirus infection was verified with the detection of PUUV RNA in plasma (630,000 copies/ml) on the day of admission, while IgM and IgG were negative. Seroconversion with positive IgM and IgG occurred two and seven days later, respectively. Consecutive plasma samples were analysed for PUUV RNA with declining viral copy numbers until negative 16 days post onset of disease (data not shown). PUUV RNA was found in bronchoalveolar lavage fluid (11,000 copies/ml) nine days after onset of disease. Bacterial cultures were all negative. The patient remained ventilator-dependent for 13 days, but was finally extubated. She developed critical illness myopathy and needed six weeks in-hospital rehabilitation. At follow-up six months later, she complained of muscle ache during exercise and lowered general fitness, but was steadily improving. |
A 56-year-old male presented to the emergency department (ED) with significant substernal chest pain starting 30 minutes prior to arrival. The patient was immediately brought back to an exam room after an electrocardiogram (ECG) was performed and was seen by a provider within 10 minutes of registration (Figure ).\nThe initial ECG revealed atrial fibrillation with a rapid ventricular response, rate of 147, with minimal ST depression within the lateral leads but was without apparent ST-segment elevation. On initial assessment, the patient had point-of-care labs immediately drawn (a basic metabolic panel and troponin), and a chest X-ray performed to evaluate for a possible aortic dissection which revealed no gross abnormalities (Figure ).\nWith a non-diagnostic chest X-ray alternative diagnoses were pursued. The ultrasound fellow in the department was consulted for an immediate cardiac ultrasound for evaluation of right heart strain secondary to pulmonary embolism. During the bedside cardiac ultrasound, the patient experienced ventricular fibrillation (Video ), and CPR was immediately started.\nThe ACLS algorithm was followed for pulseless ventricular fibrillation, and the patient received multiple rounds of epinephrine, 450 mg of amiodarone (300 mg and then 150 mg), and three conventional defibrillations with increasing joules at 150 J, 200 J, and 200 J (the departmental defibrillators are biphasic and have a maximum output of 200 J). The patient continued with ventricular fibrillation throughout the ACLS algorithm, and the decision was made to attempt DSD. The patient had a second set of pads applied in the anterior-posterior orientation in addition to the conventional right upper chest and left lateral chest with successful conversion of the ventricular fibrillation. The patient was additionally given Lidocaine, 100 mg, due to a wide-complex tachycardia and apparent non-responsiveness to the previously given amiodarone (Figure ). An improvement was noted after the use of Lidocaine, and a Lidocaine drip was started.\nOnce the patient was stabilized, he was taken for computed tomography (CT) imaging to further evaluate for the possibility of a pulmonary embolism. In the CT room, he developed bradycardia and subsequently lost his pulse. CPR was again started, the patient was given atropine, and return of spontaneous circulation (ROSC) was achieved shortly after. The CT scan did not reveal any evidence of aortic dissection or pulmonary embolism and a repeat ECG was performed which showed a persistent wide complex tachycardia with no obvious ST-segment changes. Due to the morphology of the QRS complexes and length of resuscitation time from initial arrest (nearing 90 minutes), tissue plasminogen activator (tPA) was used as a thrombolytic for what was presumed to be a large vessel occlusion myocardial infarction. Hundred milligram of tPA was administered (50 mg as a bolus and 50 mg as a drip given over 60 minutes) with an apparent reperfusion rhythm followed by a "normal" appearing sinus tachycardia. Another ECG was repeated which revealed sinus tachycardia, at a rate of 114, now with ST-segment elevations present in aVR, V1, V2, V3, and V4 with depressions in leads II, III, and aVF (Figure ).\nGiven the patient's persistent elevations despite thrombolytic therapy, interventional cardiology was consulted, and the patient was transferred to a tertiary care facility for cardiac catheterization revealing a thrombotic occlusion in the proximal left anterior descending coronary artery.\nAfter transfer to the tertiary care facility for cardiac catheterization, the patient developed cardiogenic shock. The patient was started on ionotropic medications with no improvement, and he was placed on venous-arterial extracorporeal membrane oxygenation (ECMO) therapy (~20 hours after his cardiac arrest). Before initiation of ECMO, the patient was awake, alert, and following simple commands (although still intubated). Unfortunately, despite ECMO support, his cardiac function did not improve, and the patient was not a candidate for cardiac transplantation. Seventeen days after the patient's initial presentation to the ED, the family decided to withdraw care. The patient was extubated, had ECMO discontinued, and time of death was documented shortly after. |
An otherwise healthy 30-year-old woman presented with a five-year history of syncopal episodes, moderate to severe headaches, intermittent diplopia, vertigo, and tinnitus. No focal neurological deficits were noted on examination. CT scan of the head showed a cystic lesion in the pineal region extending into the posterior third ventricle and causing significant mass effect on the midbrain, superior cerebellar vermis, and thalamus. MRI of the brain () demonstrated a 3.7 × 2.2 × 2.7 cm cystic pineal lesion with no enhancement of the cyst wall except for a thin septation seen posteriorly and mild hydrocephalus.\nThe patient underwent a stereotactic right occipital craniotomy with complete resection of the cystic pineal mass via a transtentorial interhemispheric approach. The procedure was performed under general anesthesia with the patient positioned in the prone position. The surrounding neurovascular structures were identified and carefully preserved including the right basal vein of Rosenthal, right and left internal cerebral veins, vein of Galen, and precentral cerebellar vein. No brain retractors were used during the procedure, and no notable complications were encountered during surgery. Histopathological analysis was consistent with a benign glial cyst of the pineal gland.\nPostoperatively, the patient awoke from the surgery, was alert and appropriately oriented, and followed commands briskly. In the postanesthesia care unit, she complained of a mild headache but otherwise had a normal neurological examination. However, six hours later, she developed severe dysconjugate gaze resulting in diplopia. She had slightly outward and downward deviation of both eyes, with the left side worse than the right, concerning for bilateral pupil-sparing third nerve deficits. Her remaining neurological examination was otherwise normal. An urgent CT scan was obtained; no intracranial hemorrhage was noted, but there was considerable pneumocephalus in the right lateral ventricle. In addition, the interpeduncular and prepontine cisterns were entirely filled with air (). Routine postoperative MRI, done the next morning, confirmed complete excision of the complex pineal cyst with decompression of the third ventricle without evidence of hemorrhage, FLAIR hyperintensity, or diffusion restriction in the tectal plate ().\nAlthough tectal tumors are often associated with postoperative Parinaud's syndrome, given the patient's otherwise normal light perception, accommodation on convergence, and overall lack of pupillary dysfunction, Parinaud's syndrome was excluded. One week later, a CT scan showed resolving pneumocephalus. Likewise, the patient also had improved ophthalmoplegia with near complete normalization of her left eye movements, although partial oculomotor nerve palsy was still noted on the right side. Follow-up CT scan 2 weeks later demonstrated complete resolution of the pneumocephalus (). The patient's oculomotor nerve palsy also improved considerably with complete resolution in both eyes noted at the 3-month postoperative follow-up visit. She remained neurologically intact without evidence of recurrence of the cystic mass on MRI 3 years after surgery. |
A 47-year-old man was referred to our hospital after a fall impact from a height of 6 m. On admission, the patient was awake and reported abdominal and thoracic pain. During clinical evaluation, he presented a cardiac arrest due to ventricular fibrillation that required four cardiac defibrillations, intubation, and mechanical ventilation. The patient recovered sinus rhythm but again presented hemodynamic instability with bilateral lung hypoventilation at auscultation. Tension pneumothorax was suspected and thoracic tubes were inserted into both sides of the chest. Episodes of ventricular tachycardia were treated with amiodarone and a complete atrioventricular block with a transitory pacemaker. A radiograph of the chest showed inferior left and right costal fractures, and free pelvic and abdominal liquid was observed by abdominal ultrasound. An exploratory laparotomy was conducted, proceeding to splenectomy due to spleen rupture. The electrocardiogram showed a 1-mm ST segment elevation in lateral leads with associated right bundle branch block [].\nThe patient was admitted to the Intensive Care Unit. After 24 hours, he presented sudden hemodynamic deterioration with associated ventricular tachycardia. Pneumothorax recurrence was ruled out. Echocardiography demonstrated severe left ventricular dysfunction (ejection fraction 30%) with anteroseptal akinesia, and apical aneurysm without valve regurgitation, aortic dissection, or pericardial effusion. Upon insertion of a Swan-Ganz catheter, it was determined that the patient had a low cardiac index, elevated systemic vascular resistance, and high wedge capillary pressure. Serum creatine-phosphokinase reached 7233 IU/l with an MB fraction of 284 IU/l.\nThe patient’s progress was slow, but satisfactory. Catecholamines were withdrawn after 15 days, although an echocardiogram showed no improvement in ventricular function. The patient was discharged to a hospitalization room on the 43rd day after admission, and sent home 15 days later.\nFour years after the accident, the patient is in New York Heart Association functional class II/IV and is undergoing treatment with beta blockers and angiotensin-converting enzyme inhibitors. Echocardiogram shows moderate left ventricular dysfunction (ejection fraction 37%) with persistent anteroseptal akinesia and apical aneurysm []. The treadmill test is clinically and electrocardiographically negative. |
We report the case of a 75 year old woman who presented in 2004 with treatment refractory bipolar depression. She was admitted to hospital for the first time after a suicide attempt in 1996. After being insufficiently responsive to multiple psychopharmacological strategies, including add-on and augmentation therapies, she underwent a first course of ECT in 1997. For recurrent episodes, she also received ECT in 2001, 2003 and 2004. Ten sessions of monthly maintenance ECT (right unilateral) were administered in 2003 and 2004, only leading to subsequent continuous deterioration of cognitive function without having a pronounced antidepressant effect. In 2001, she experienced her only hypomanic episode after administration of the tricyclic nortriptyline (100 mg/d). At this time, she was diagnosed as having bipolar III disorder according to a broader bipolar spectrum concept [], but according to DSMV [], her illness would now be classified as Bipolar II disorder. The patient had a family history for depression and bipolar disorder.\nIn 2004 she was prescribed tianeptine and pregabalin as a presumed mood stabilizer []. Shortly afterwards, she made a second suicide attempt. She subsequently had venlafaxine (150 mg/d) and lamotrigine (200 mg/d) implemented. After more than three months on this medication without noticeable change, she was then admitted to our specialized outpatient clinic for mood disorders in Innsbruck, Austria. She presented with residual depressive symptoms such as residual low mood and anxiety, fatigue, lack of energy, motor retardation and cognitive impairment. She was disabled to such a degree that she was not even able to dress appropriately and fulfilled stringent criteria for treatment of refractory bipolar depression [, ]. Because of insufficient response to previous mood stabilizer treatment, bupropion (300 mg/d) was added to the ongoing medication. From there onwards, the patient improved continuously. After 6 weeks, she fulfilled criteria for symptomatic remission [], minor subsyndromal symptoms vanished over the next year and she remained well for four years (end of follow up and referral back to community treatment), without experiencing a depressive relapse or a switch into hypomania. |
A 36-year-old male survived a severe traffic accident but lost his right leg, bilateral testicles and a large area of genital skin, including the foreskin and scrotal skin. Additionally, the penile urethra was damaged, resulting in a urethral defect 6 cm in length, and the meatus had descended to the penoscrotal junction.\nThe patient strongly desired to perform standing urination; therefore, we performed a three-stage procedure to repair his penis. In the first stage, skin saving measures and coverage of the skin loss were the most important treatments. Free skin grafts and pedicle flaps were transposed to repair the skin defects. The nude penile shaft was buried beneath the skin of the left anteromedial thigh (Fig. a).\nTwelve months later, the patient underwent the second-stage procedure for penile release and urethral plate expansion (Fig. b). In this stage, the penis was released from the left thigh and was fully covered with skin and subcutaneous fat. The size of the penile dorsal skin was designed to be large enough to wrap the corpus cavernosum and residual urethral plate. Considering the shrinkage of the residual urethral plate, a lingual mucosal graft [] was harvested to expand the urethral plate. The neourethral plate was designed to be as large as possible due to the expected 20% shrinkage of the oral graft []. A protective tie-over dressing was placed to reduce the chance of hematoma collecting under the graft. No focal graft contracture occurred requiring an additional operation to patch the graft, and no donor site complications were observed at the follow-up evaluation (Additional file ).\nAt 6 months after the second-stage surgery, a third stage was performed for urethroplasty. In this stage, the patient underwent a urethroplasty procedure utilizing the preset flap and the neourethral plate with a standard Thiersch-Duplay technique (Fig. c) (Additional file ). The neourethra was tabularized with 2-layer running subepithelial 6–0 Vicryl sutures. Adequate dissection of the new foreskin, excision of a part of the subcutaneous adipose tissue and Z-plasty led to tension free coverage of the corpus cavernosum and neourethra (Fig. d) (Additional file ). The 12-Fr catheter was removed on postoperative day (POD) 21, and no fistula was observed after the urethral catheter was removed.\nAt the 2-year follow-up evaluation after the repair, the patient voided satisfactorily (Additional files and ). The maximal flow rates (MFRs) were 27.8 ml/s, 23.3 ml/s, and 22.2 ml/s with no postvoiding residual urine after the third-stage operation and at the 12-month and 24-month follow-up evaluations, respectively. No edema, infection, hemorrhage, or cicatricial retraction were observed. The patient reported penile erectile function and the ability to perform intercourse without penile curvature. A mild reduction of penile hardness and sensitivity were reported during the 2-year follow-up visit. However, his IIEF-5 scores were 22 and 23 at the 12-month and 24-month follow-up evaluations, respectively, as demonstrated by nocturnal penile tumescence (NPT) during postoperative year 2. |
A 69-year-old man presented with a solitary nodule on his chest that has been first noticed 20 days prior. This nodule had increased dramatically in size over the previous week with mild tenderness. He had been diagnosed with duodenal GIST metastasizing to the liver when he visited the emergency room with hematochezia three years previously. At that time, he underwent a subtotal stomach preserving pancreaticoduodenectomy with liver wedge resection. After surgery, he was given a daily oral dose of the tyrosine kinase inhibitor imatinib (400 mg) as an adjuvant therapy.\nAt the current admission, a skin examination revealed a 15×15 mm, firm, skin-colored, round-shaped nodule on his chest (). As skin metastases as well as other cystic diseases were suspected, an excisional biopsy was performed. The subsequent histopathologic examination revealed a well-demarcated subcutaneous tumor nodule. The tumor was mainly composed of atypical spindle and epithelioid type cells with various degrees of cytologic atypia. Multiple mitoses were also observed (). Immunohistochemistry revealed positivity for c-kit (CD117), DOG-1 and negativity for smooth muscle actin, S-100, and CD34 (). Additional molecular genetic analysis demonstrated a deletion mutation in exon 11 of the KIT gene. The histopathological features of the nodule were consistent with a GIST.\nFollowing the biopsy, chest computed tomography was performed to look for any remnant soft tissue tumors. However, no abnormal lesion was observed within the excised site. After four weeks later, a brain magnetic resonance imaging of follow work-up revealed multiple metastases at the orbital left superior rectus muscle and occipital scalp. Under the diagnosis of imatinib-resistant GISTs, a second-line therapy with sunitinib was tried. After six weeks later, his chest nodule was completely improved. Further work-up at six month follow-up, computed tomography of head, chest and abdomen revealed decreased mass in left superior rectus muscle and no change of the cutaneous lesion, implicating the stable disease state. |
A 70-year-old Caucasian man with a history of right hemi-colectomy one year earlier (due to adenocarcinoma of the right colon) was admitted to our hospital with abdominal pain and unexplained weight loss. His laboratory values, X-rays, and computed tomography (CT) were not indicative of any distinctive pathology. Therefore, the general surgeons decided to proceed with an exploratory laparotomy, based on the patient's recent hemi-colectomy and the high clinical suspicion of a metachronous metastatic insult of the pancreas.\nA metastatic tumor was identified in the uncinate process of the pancreas. During the dissection and preparation, the SMV involvement was identified on its anterior surface superiorly to the confluence of the middle colic vein at the level of the transverse mesocolon. No involvement of the superior mesenteric artery was identified. When it was decided that the tumor could be resected with a sufficient macroscopic margin, a duodenopancreatectomy was performed. Sufficient resection with healthy margins was documented by intra-operative histology. The tumor adhered only to the SMV, with the latter caudally divided at the point where the SMV emerged.\nAccordingly, a right mid-thigh incision was performed, and an adequate SFV segment up to the junction with the profunda femoris vein was harvested. The duration from the vein preparation and harvest to skin closure was 15 to 20 minutes. During the venous reconstruction, a solution of 5000 U of heparin was delivered locally through the SMV. No valvulotomy was performed. The pancreatic head resection was immediately followed by the construction of a proximal anastomosis between a non-reversed SFV segment 3 cm to 4 cm in length and the central stump of the SMV in an end-to-end fashion (Figure ). The peripheral anastomosis was created in a similar fashion. The duration of the creation of each anastomosis was 10 minutes. Intra-operatively, the patency of the reconstruction was confirmed by a continuous wave Doppler signal. The operation was completed with the creation of pancreatojejunostomy and a new ileotransversostomy.\nThe patient's post-operative instructions included the administration of a prophylactic dose of low-molecular-weight heparin, limb elevation, and application of compression stockings (class II). During the immediate post-operative and follow-up phase (six months), only mild edema of the leg was marked. The SFV inter-position graft showed good patency (Figure ) on color duplex ultrasonography. |
A 49-year-old woman required urgent osteosynthesis of a periprothetic femur fracture after trauma to the left hip. Due to long standing (~48 y) rheumatoid arthritis the patient was immunosuppressed with corticosteroids and adalimumab and had underwent multiple joint replacements since her childhood. At the third postoperative day after osteosynthesis of the fractured femur she suffered from large bilateral pulmonary embolism at the orthopedic patient-department. Two days later septic shock had developed, apparently from a necrotizing fasciitis of the leg. The perioperative antibiotic treatment with clindamycin was extended empirically with cefeprime and fosfomycine. A whole-body scan was performed which revealed free gas in the retroperitoneum as a sign of a covered perforated diverticulitis (Fig. ). Due to increased systemic infection signs (CRP, elevated WBC, PTC) and life-threatening patient's condition a multidisciplinary decision was made to first treat the necrotizing fasciitis. Immediate debridement of the necrotic tissue, including the subcutaneous tissue to the fascia of the leg, was performed by plastic surgeons (Fig. ). Postoperatively multiple organ dysfunction developed, including acute lung failure, the patient required veno-venous extracorporeal membrane oxygenation (vvECMO).\nAs anticoagulation was required for vvECMO surgical treatment of the abdominal focus was excluded. A CT-guided drainage of the intra-abdominal abscess was performed after stabilization the patient within 2 days, the drained fluid revealed pus. Interestingly, microbiological testing of the soft tissue debridement showed Enterococcus faecium and Escherichia coli being the causative pathogens of the necrotizing fasciitis.\nAfter stabilization and ECMO removal, the patient had to undergo hemicolectomy with an ileostomy due to a now perforated caecum at the 20th postoperative day. Several days later using a negative pressure therapy system abdominal closure was performed.\nDuring the following postoperative days infect parameters decreased and the patient was extubated.\nMore than 7 weeks later on the ICU an infection of the osteosynthesis was suspected due to increasing infection signs and lack of an abdominal focus. Several functions and revisions of the retention around the hip and the osteosynthesis were performed. Despite a continuous antifungal therapy since the 14th postoperative day (using first fluconazole and later echinocandines) microbiological testing revealed infection with Candida albicans. Because of resistance to antifungal therapy, several bouts of sepsis and massive impaired healing due to immunosuppression over decades, disarticulation of the lower extremity was performed by orthopedic surgeons after 2-month ICU stay. Thereafter the patient stabilized slowly and was discharged from ICU a month later. After another 2 months and a total of 5 months in hospital the patient was discharged finally back home. |
A 77-year-old man attended our services with exertional dyspnoea secondary to aortic valve stenosis. He received an orthotopic heart transplantation (HTx) in 1994 for idiopathic dilated cardiomyopathy (DCM). Unfortunately, we have no records of the patient's transplant operative data given the fact that his procedure was done 23 years ago. He remained asymptomatic during follow-up except for paroxysmal atrial flutter for which he received a single chamber pacemaker in 2008 and later, atrial flutter ablation in 2010. Patient was adherent to his medication regimen and did not show any signs of transplant rejection on several cardiac biopsies. His post-transplant cardiovascular risk factors included systemic hypertension, dyslipidaemia, and stable stage 4 chronic renal dysfunction (eGFR 23 mL/min/1.73 m2). Serial transthoracic echocardiography (TTE) performed in our institution showed progressive degenerative aortic valve disease.\nAt presentation, his TTE showed degenerative bicuspid aortic valve with fusion of the right and left coronary cusps by an incomplete raphe. The appearance of the valve was consistent with severe aortic stenosis which was confirmed by hemodynamic Doppler assessment that revealed a peak gradient of 65 mm Hg, aortic valve area of 0.9 cm2 derived from the continuity equation and a dimensionless velocity index (DVI) of 0.24. Left ventricular function was normal with an ejection fraction (EF) of 59% by Simpson's method. Further evaluation of the aortic valve and aorto-iliac anatomy was pursued by a Multi-detector computed tomography (MDCT). It confirmed the morphology of a heavily calcific BAV, the absence of associated aortopathy, and suitability for transfemoral approach. The maximal aortic annulus dimension was measured as 25 mm with an aortic root diameter of 32 mm at the level of the sinuses of Valsalva. Coronary angiography was performed to screen for cardiac allograft vasculopathy (CAV) which did not show any evidence of obstructive coronary disease.\nIn addition, he was noted on admission to be bradycardic with episodes of second-degree mobitz type 2 atrio-ventricular (AV) heart block. Electrophysiology service was consulted and decided the need to upgrade his pacemaker to a dual-chamber system following the TAVI procedure.\nHis case was discussed at the Heart Valve Team meeting with a consensus that TAVI would be the optimal intervention strategy being a high-risk surgical candidate with a Society of Thoracic Surgery (STS) predicted risk of 30 days mortality of 7.035%.\nThe TAVI procedure was performed according to the standard local TAVI protocol. Vascular access was obtained with ultrasound guidance under local anesthesia and conscious sedation. Heparin (6000 units) was given intraoperatively to achieve an activated clotting time (ACT) greater than 250 seconds. A balloon expandable 29 mm Edwards Sapien 3 transcatheter heart valve (Edwards Lifesciences, Irvine, CA, USA) was advanced via the right femoral artery through the calcified, transplanted native aortic valve without prior balloon aortic valvuloplasty. Final positioning was confirmed by fluoroscopic guidance. Under rapid ventricular pacing, by temporary pacing wire via the left femoral vein, expansion of the prosthesis over the stenotic valve was accomplished with excellent results and no immediate complications. The total amount of contrast used was 60 mL and subsequent renal function tests were stable. His pacemaker was electively upgraded to a dual-chamber system the following day as planned earlier due to pre-existing high degree heart block. Pre-discharge TTE revealed a well-positioned aortic valve prosthesis with a peak and mean trans-prosthesis gradients of 14 mm Hg and 12 mm Hg respectively. There was no evidence of valvular or paravalvular regurgitation on color flow Doppler and the LV systolic function remained normal.\nPatient showed immediate symptomatic and hemodynamic improvement and was discharged from hospital 48 hours post index procedure. He was maintained on his regular medication including the immunosuppressive therapy. At the routine 1-month clinic follow-up the patient was doing well and did not report any symptoms with no limitation of his physical activity (NYHA 1). |
JK is a 35-year-old male with precursor T-lymphoblastic leukemia diagnosed in 2001 with a bone marrow blast immunophenotype of CD2+CD7+CD3+ cells with aberrant expression of CD13 and negative staining for TdT and myeloperoxidase. His karyotypic analysis was indicative of a 4;11 translocation involving the MLL gene at 11q23. He was induced and underwent allogeneic stem cell transplantation (SCT) from his HLA-identical fraternal twin brother in April 2002. He was in remission with limited skin chronic graft-vs.-host disease until January 2003, when he relapsed and was treated with ICE chemotherapy followed by a donor lymphocyte infusion. He remained in remission until February 2005, when he developed nodular violacious skin lesions which on biopsy revealed T-cells consistent with his original leukemia. Full restaging including bone marrow biopsy and cerebrospinal fluid analysis were negative, indicating an isolated skin recurrence. Re-induction therapy was initiated with cyclophosphamide and gemcitabine but was complicated by significant myelosuppression and renal insufficiency. He received a brief course of systemic retinoid therapy with bexarotene and spot electron beam irradiation for symptomatic improvement of nodular disease on his face with rapid recurrence at the completion of radiation. He then was treated with nelarabine in February 2006 and responded but developed worsening renal insufficiency.\nHe quickly developed recurrent nodular tumors over his brow, around his right ear, on his chest, and on his back and chest []. On restaging in October 2006, the patient had no evidence of lymphadenopathy or involvement of liver or spleen by CT scan. A bone marrow biopsy revealed relapse of known precursor-T lymphoblastic leukemia involving 40 percent of the marrow. The cells were CD2+ CD7+ CD34+ HLA-DR+ CD3-. Flow cytometry of the blood was negative for blasts with only occasional reactive lymphocytes. At that time, his leukocyte count was 2.0 with 64 percent neutrophils and 35 percent lymphocytes, the hematocrit was 24.5 and platelets were 52 x 10³/dl. He initiated therapy with clofarabine at 10 mg/m2 weekly for three consecutive weeks every 28 days. Treatment schedule and toxicities are shown in Table 1. There was no hepatic toxicity, and only mild fluctuations of the creatinine were noted. Treatment was held on the third week of the first two cycles due to neutropenia.\nAfter two cycles of clofarabine, the patient’s lesions regressed significantly as shown in . Cycle 3 was delayed due to a hospitalization for herpetic esophagitis, which resolved with acyclovir therapy. He remains on weekly low-dose clofarabine with ongoing response after three months. His platelet count has been stable at 99,000/mm³. An unrelated donor has been identified, and the patient will undergo a second allogeneic stem cell transplant. |
A 14-year-old boy visited the ear, nose, and throat (ENT) outpatient department of our center, with a history of left-sided nasal obstruction gradually progressive over a period of 1 year, with recurrent history of associated rhinorrhea. There was no history of epistaxis or any other ENT complaints, and the patient’s past medical history and family history were insignificant.\nOn anterior rhinoscopy, a single polypoidal mass was seen filling the left nasal cavity extending up to the vestibule. The mass was firm in consistency, insensitive to touch and pain, and did not bleed upon touch. General and systemic examinations and an examination of the rest of the ENT were all within normal limits. A contrast-enhanced computed tomography (CT) scan showed a homogenous soft tissue lesion measuring 44×68×12 mm in the left nasal cavity, extending posteriorly into the nasopharynx ().\nThe mass extended superiorly into the left ethmoid air cells up to the cribriform plate with its thinning and breach. The rest of the sinuses was clear. On contrast study, there was heterogeneous enhancement. Based on the CT findings of the anterior skull base breach, gadolinium-enhanced magnetic resonance imaging (MRI) was performed to rule out intracranial extension, and revealed small sub-centimeter focus posteriorly without any significant intracranial extension ().\nRigid endoscopy was carried out and the mass was seen attached to the anterior part of the nasal septum. A punch biopsy was taken, which presented as an inflammatory polyp.\nThe patient was referred for standard endoscopic sinus surgery under general anesthetic after providing informed consent. The mass was removed endoscopically, and was seen to be extending intracranially but extradurally. Complete resection of the tumor was achieved and while managing the tumor in the region of the cribriform plate, there was an obvious CSF leak. The site of leakage was identified and closed using an underlay technique with septal cartilage, fascia lata, and tissue glue. The intra-operative blood loss was minimal.The post-operative recovery period was uneventful. Histopathology of the excised specimen showed the tumor mass lined by pseudostratified columnar epithelium with squamous metaplasia. The subepithelial tissue was composed of loose myxoid areas with mature adipose tissues and foci of cartilage. Foci of neuroepithelial cells occupying more than four low-power fields were seen. Grade 3 immature teratoma was given as final diagnosis (-).\nAdjuvant chemotherapy was started based on the histological grading, with four cycles of bleomycin, etoposide, and cisplatin. A regular follow-up for a period of 2 years showed no signs of recurrence. |
A 24-year-old fit-and-healthy ex-army officer presented with a two-day history of a cold, numb, and painful left lower leg; he had been doing vigorous exercises two days prior to admission. Over the past few months, the patient had experienced similar worsening leg pain after running long distances. Apart from smoking (5 pack years), the patient had no other significant cardiovascular risk factors.\nPhysical examination revealed a regular heart rate of 60 beats per minute and a blood pressure of 120/80 mm Hg. There was no palpable abdominal aortic aneurysm. Examination of the right leg was unremarkable. On the left side, there were normal palpable femoral and popliteal pulses, but no palpable distal pulses. The left foot also appeared paler; however, motor and sensory functions were intact.\nAn angiogram revealed a thrombotic occlusion of the proximal half of the popliteal artery and a small embolus in the mid-peroneal artery (). Intraarterial thrombolysis (Alteplase) was commenced. A 24-hour followup angiogram showed a reduction in the size of the thrombus; however, there was still a stricture at the midpopliteal artery with an irregularity of the wall. The stricture was accentuated with the foot in dorsiflexion and plantar flexion. At 48 hours, the angiogram demonstrated that the thrombus had largely resolved; however, the stricture was still present. The site of stenosis was angioplastied which resulted in a marked improvement in blood flow.\nAn MRI scan was subsequently performed and showed the medial head of the gastrocnemius muscle going between the popliteal artery and vein where it inserted in a more lateral position (). Having excluded bilateral disease on the MRI, the patient underwent surgery-division of the medial head of gastrocnemius with autogenous saphenous vein interposition graft. A postoperative duplex scan showed that the vein graft was patent with pulsatile signals. The patient's recovery was uneventful and he was discharged 3 weeks after hospitalisation. |
Over 9 years ago, a 59-year-old Asian man was referred to our office by his primary care physician with a history of extensive daily hives consisting of severe itching for the past 3 to 4 months. While his skin rash was aggravated by stress and cold weather, there was no association with any foods or medications. The only unusual aspect of his past medical history was a microinvasive thymoma involving the capsule, which was diagnosed 2 years prior to his appointment at our office. Before treatment of the thymoma, his white cell and absolute lymphocyte counts were within normal limits; however, his CD4+ and CD8+ counts were not measured prior to surgery. Six weeks following the thymectomy to remove the tumor, he received mediastinal radiation of 62 gray. His rash began approximately 2 weeks after his thymectomy. Two months following the completion of chemotherapy, he sought care. While his immune function had not been specifically evaluated prior to his thymectomy and radiation, his medical history was negative for any known immune disorders, and he indicated no previous symptoms for immune disorders. Furthermore, his family history was negative for autoimmune disorders. The physical examination on his initial visit was only significant for extensive urticarial rash on his trunk and both extremities with no angioedema.\nTwo months after the radiation was delivered, our initial laboratory work-up was significant for a depressed absolute lymphocyte count of 465 cells/mcL (normal values, nml: 850 to 3900 cells/mcL). The combination of his low absolute lymphocyte count and non-allergic urticaria prompted further laboratory evaluation of a complete blood count differential, CD4+ and CD8+ counts, thyroid-stimulating hormone (TSH), and thyroid autoantibodies. We diagnosed him as having chronic idiopathic urticaria (CIU) and prescribed fexofenadine 180mg once daily before noon and doxepin 50mg every evening at bedtime.\nA subsequent follow-up visit a month later revealed a severe CD4+ lymphocytopenia of 75/mm3 (10.9%; nml 490 to 1740/mm3, 30 to 61%) with CD8+ cell count at 336/mm3 (49%; nml 180 to 1170/mm3, 12 to 42%); however, his TSH, thyroid peroxidase, and thyroglobulin antibodies were within normal limits. He tested negative for human immunodeficiency virus. Although his immunoglobulin levels were unremarkable, he failed to respond to 11 of 12 serotypes of the polysaccharide pneumococcal vaccine. To prevent opportunistic infections, we prescribed him Bactrim® (trimethoprim-sulfamethoxazole) double strength once daily prophylaxis. Over the next few weeks, his urticaria improved between 40 and 50%, albeit he continued to experience a daily rash and frequent itching.\nFor 2 years after his first appointment at our office, he was followed every 4 weeks with close monitoring for any opportunistic infections and every 2 to 3 months with laboratory evaluation for CD4+ and CD8+ counts. Fifteen months following his thymectomy, he developed a severe case of shingles on his trunk and left arm, for which he was treated with Famvir® (famciclovir) 500mg twice daily and Zovirax® (acyclovir) cream twice daily. He continued to have severe, persistent CD4+ lymphocytopenia, reaching a maximum of 130 cells/mm3 (nml: 490 to 1740/mm3, 30 to 61%) over the course of 2 years post-thymectomy (Table ).\nOne year later and a total of 3 years after his thymectomy, his yearly positron emission tomography/computed tomography (PET/CT) scan revealed a small posteriorly located right apical lung nodule with mild metabolic activity. A needle biopsy of the nodule was inconclusive. However, a PET/CT scan a year later showed that the mass had increased by 3mm. As a result, he received a right thoracoscopy and wedge resection of the nodule in his right lung, a total of 47 months since his thymectomy. Analysis of the nodule revealed that it was benign, yet it was inflammatory in nature with granulomatous features.\nIn the following 3 years since the lung resection, we monitored him with a physical examination every 2 to 3 months and a laboratory work-up every 4 to 7 months. He continued to complain of hives consistent with CIU. During this time, he maintained his drug plan of doxepin 50mg every evening at bedtime, fexofenadine 180mg once daily before noon, and Bactrim® (trimethoprim-sulfamethoxazole) double strength once daily prophylaxis. As in the months before, he experienced CD4+ lymphocytopenia, wavering between approximately 130/mm3 and 160/mm3. During the 3 years preceding his last visit, he experienced no recurrent sinopulmonary or opportunistic infections for 3 years while maintaining Bactrim® (trimethoprim-sulfamethoxazole) prophylaxis. This allowed for discontinuation of the prophylaxis treatment, contingent on close monitoring of his health and resumption of Bactrim® (trimethoprim-sulfamethoxazole) if symptoms occurred. His last laboratory work-up at our office, approximately 85 months after his thymectomy, revealed an absolute lymphocyte count of 956 cells/mcL, absolute CD3+/CD4+ of 164/mm3 (16%), and absolute CD3+/CD8+ of 257/mm3 (25%): nml 850 to 3900 cells/mcL; 490 to 1740/mm3, 30 to 61%; 180 to 1170/mm3, 12 to 42%, respectively (See Figures and ). |
Diana (a pseudonym) is a young woman of 25 years old that reached the Eating Disorders Centre, Division of Endocrine and Metabolic Diseases, San Luca Hospital in Milan, following a dramatic weight loss. Diana reached the Centre with a BMI of 16.06 kg/m2 reporting several disruptions in her eating patterns and several distressful alterations in her body image perception. As reported in the clinical history, Diana’s first eating related crisis was dated back 2 years before her current admission, with a subtle episode when she started a diet to lose some weight after health issues related to her thyroid. During that period, Diana was located abroad for work and – under moderate stress – she began a restrictive diet with a low caloric intake that brought her to lose 10 kg in 6 months. Diana’s weight remained constant in the following months but she developed an obsessive attention to the caloric intake along with intrusive thoughts regarding her weight and regarding specific types of foods. Diana also reported body-related image distortions such as overvaluation of her weight, mirror and body checking, and avoidance of body exposure. Moreover, during the crises, she reported frequent crying spells observing her body in front of a mirror.\nIn the last year, Diana reported a stressful situation at the University that heightened her psychological symptoms. Following these new difficulties, Diana re-enacted the restrictive conducts, reducing the caloric intake with a consequent weight loss of 4 kg in a month. In the period before the admission, the restrictive conduits were accompanied by self-induced vomit and daily binge episodes.\nDiana matched all the DSM-5 criteria for a diagnosis of AN, binge-purge subtype. Compatible with the diagnosis, Diana presented distortions in her body perception and obsessive thoughts regarding her weight and her body image; for these reasons, she was considered as an optimal candidate for the interoceptive assessment.\nAt the begin of the rehabilitative protocol, Diana’s blood panels showed no signs of metabolic distress, with values in normal ranges. At her admission, Diana’s thyroid levels were within normal range and they remained within the normal range during the curse of the treatment. Endocrinologist suggested a chronic autoimmune normal-functioning condition. The psychiatric assessment indicated mood alterations toward a depressive condition accompanied by severe sleep difficulties and insomnia.\nThe rehabilitative program was composed of a multidisciplinary approach that included several experts in different fields: endocrinology, psychiatry, psychology, and nutrition. The specialists collaborated in an outpatients service tailored to the specific users’ needs. The rehabilitative program could extend from two to four cycles of treatment. Diana followed a two-cycle rehabilitative protocol with a frequency of 3 sessions a week for a total of 37 sessions. The protocol was composed of psychological intervention with group psychotherapy and individual sessions focused upon a psyco-corporal therapy approach (body-oriented psychotherapy). Psychological intervention was accompanied by psychiatric and pharmacological support (citalopram and mirtazapine), to moderate Diana’s mood alterations. The rehabilitative protocol was integrated with alimentary education sessions provided by the nutritionist. Additionally, the protocol was also accompanied by a nutritional program with fixed meals (both in quantity and composition) that Diana consumed under supervision. Scheduled assessment sessions ensured an adequate monitoring of the progress.\nFrom the beginning, Diana showed a deep insight regarding her condition. Nonetheless, from her first session, Diana showed severe difficulties in following the assigned rehabilitative diet due to obsessive thoughts connected to her body weight and to certain types of food. In the following weeks, Diana improved her adherence to the recovery protocol with a better ability to follow the changes in the diet both on quantitative both on the qualitative level (e.g., types of foods consumed). Diana reached a BMI of 19.00 kg/m2 at the end of her second cycle of rehabilitative treatment. Considering the noticeable improvements regarding her eating behaviors and her general clinical condition, Diana was dismissed from the Centre and continued her program following only monthly assessments accompanied by individual psychotherapy. |
A 16-year-old white male with past medical history of hidradenitis suppurativa presented with three days of fever and abdominal pain and an episode of syncope to an outside hospital emergency department. His symptoms began with fever, and right lower quadrant abdominal pain began the next day. He presented to the emergency department on the third day of illness and was admitted. On hospital day 1, computed tomography of his abdomen revealed a low-lying cecum and peri-rectal inflammation. He was evaluated by general surgery and underwent a laparoscopic appendectomy with pathology confirmatory for acute appendicitis. Post-operatively, he remained persistently febrile. On hospital day 6, he developed hypotension, requiring transfer to pediatric intensive care unit and vasopressors. On hospital day 7, he was transferred to the local tertiary-care children’s hospital pediatric intensive care unit on dopamine and milrinone. Laboratory results were consistent with myocarditis, and an echocardiogram demonstrated diffuse coronary dilatation (Table ). Physical examination on arrival to the tertiary care intensive care unit revealed a grade III/VI systolic ejection murmur over the lower left sternal border, a gallop, and tenderness to palpation in the right lower quadrant without guarding. He was empirically started on broad-spectrum antibiotics, including doxycycline for concern for possible rickettsial disease; all except doxycycline were discontinued with negative blood cultures and a negative test for microbial cell-free DNA in the blood. Doxycycline was continued empirically given prevalence of Rocky Mountain Spotted Fever in the area. Due to the echocardiographic findings of diffuse coronary dilation, he was discussed with cardiology with concern for atypical Kawasaki disease. He was treated with intravenous immunoglobulin (IVIG) and aspirin on hospital day 7 (day 9 of fevers) with rapid defervescence and improvement in his blood pressures. Following IVIG completion, he became afebrile and abdominal pain also resolved by the following morning. Cardiac labs including troponin, brain natriuretic peptide, and electrocardiogram were trended until normalization occurred, at which point he was discharged home on aspirin therapy. A SARS-CoV-2 PCR was performed after transfer (hospital day 8) and was negative, and SARS-CoV-2 serologies were not performed during his admission. This patient was admitted prior to the official CDC definition of MIS-C requiring current or recent SARS-CoV-2 infection, but local experts felt his presentation was consistent with the then-current case definition for Pediatric Inflammatory Multisystem Syndrome or MIS-C. |
The study was approved by the ethics committees of the participating hospitals and institutes, and in accordance with the principles stated in the Declaration of Helsinki, and written informed consent was obtained from the patient.\nA 42-year-old, left-hand-dominant female presented in the emergency department after being involved in a high-velocity road traffic crash. The patient was hemodynamically stabilized in the emergency department. Initial assessment revealed that she had contusion and swelling over the anterior aspect of the chest that extended up to the shoulders. At admission, the patient was taking shallow breaths and presented with pain during breathing, which was labored. The neurologic status and vascular status of the bilateral upper extremity were normal. Palpation revealed a palpable bony defect at the left acromion. A computed tomography scan of the thorax revealed a bilateral hemopneumothorax. The radiographs showed fractures in the bilateral middle third of the clavicle and AC joint dislocation in the left shoulder (Fig. ). Given the nature of the injury, a decision to perform an operative stabilization was made. An incision in the skin of 15 to 16 cm in length was made from the AC joint to the medial end of the left clavicle. The soft tissues were incised and muscles were subperiosteally erased to expose the superior surface of the AC joint and the clavicle. Complete disruption of the AC and coracoclavicular (CC) ligaments was found, and the deltotrapezial fascia was stripped from its attachment to the distal clavicle. To stabilize the AC joint, we selected a 5-hole locking hook plate and placed it under the acromion and the AC joint. Another 6-hole truncated anatomic locking reconstruction plate was used to fix the fracture of the middle third of the left clavicle (Fig. ). Contralateral surgery was performed at the same time. A similar approach was used to expose the clavicular fracture. A 6-cm incision was made over the superior aspect of the clavicle, centered over the fracture site. The subcutaneous tissue was incised and muscles subperiosteally erased. After achieving an anatomic reduction, an 8-hole locking compression plate was used to fix the fracture. Standard postoperative care was followed. Both shoulders were kept in a sling to ease pain. Postoperative radiographs revealed anatomical reduction of the fractures and stable reconstruction of both fractures and the AC joint (Fig. ). Standard radiographs showed that the bilateral fractures had healed well after 1 year (Fig. ). Clinically, at the 1-year follow-up, the patient had excellent range of motion and functional outcomes. |
A 19-year-old male patient complained of shoulder pain with no trauma history. He reported that the pain started about 6 months before, with progressive worsening. Pain was present in elevation and abduction, especially above 90°. The pain caused him to interrupt his physical activities, although he did not notice worsening during bodybuilding.\nA winged scapula was identified in physical exam, with scapulothoracic grade III dyskinesia, according to Kibler et al. []. He presented infraspinatus atrophy, complete range of motion, preserved upper limb strength, and discrete paraesthesia at the region of the medial border of the right scapula, with no other signs. There were no clinical signs suggestive of rotator cuff injury or glenohumeral instability ().\nThe imaging exams did not show significant changes. Shoulder MRI showed no rotator cuff lesion, labral lesions, cysts, or other soft tissue involvement. The cervical spine MRI did not show cervical discopathy or syringomyelia. Electroneuromyography with evoked potential of the scapular girdle evidenced diffuse axonal involvement of the long thoracic nerve, without other alterations.\nThe patient was then referred to the physiotherapy service, where he initiated a program of shoulder girdle rehabilitation focused on analgesia and passive mobilization. During ten weeks, he remained under the care of physiotherapists twice a week, but he did not notice an improvement in the pain. When he returned to the orthopedic clinic, he was informed about the possibility of surgical treatment.\nThe patient insisted on conservative treatment. We recommended strengthening of the shoulder girdle and swimming. During three months, he practiced swimming three times a week under the guidance of a physical education professional with experience in athlete training. In order to strengthen the periscapular muscles, he tried to practice the four classic styles of swimming, using floats in the lower limbs and increasing the demand on the upper limbs. Progressively, he noticed an improvement in his pain.\nThe swimming program consists of a 60-minute pool training three times a week, with increasing distances. The front crawl, breaststroke, and backstroke were alternated during training. The main set was a target mile, split in 200 m lengths with 1-minute rest (in a 25 m pool) and alternating strokes.\nHe returned after 90 days, free of pain. He presented dynamic stabilization of the scapula during elevation, and dyskinesia was no longer perceived. The force remained unchanged, but atrophy was no longer identified. The patient was satisfied with the progress made and was encouraged to stay in the muscle strengthening program in aquatic activities (). |
A 19-year-old unbooked primigravida at 15 week period of amenorrhea presented with lower abdominal pain and giddiness. The present pregnancy was a result of spontaneous conception with married life of 8 months. She had a history of slight bleeding per vaginum and lower abdomen pain at 12 weeks when a transabdominal ultrasound was done by a technician and reported normal, for which the report was not available now. On examination, she had a pulse rate of 116 beats per minute and blood pressure of 90/60 mmHg of right upper limb. The abdomen was tender and uterus was deviated to left side corresponding to the size of a 20 week pregnancy. The cervix was firm, 2.5 cm long, posterior and the cervical os was closed. A speculum examination did not reveal any cervical or vaginal pathology. No vaginal bleeding was noted.\nA transabdominal ultrasound scan was done and revealed two live fetuses, one live fetus with placenta was surrounded by momentum and the other live fetus with no surrounding myometrium and placenta was seen. Gestational age corresponded to about 16 weeks and free fluid was seen in the pelvis and Morrison’s pouch. Her haemoglobin was 9.0 g/dl, platelet count was 220x109 L, and the clotting profile was normal. Ruptured tubal (cornual) ectopic pregnancy with an intrauterine pregnancy, twin pregnancy in bicornuate uterus and twin pregnancy occupying the unicornuate uterus and its associated rudimentary horn were considered as differential diagnosis.\nAn emergency laparotomy was performed immediately with simultaneous ongoing resuscitation. Intraoperative findings revealed a unicornuate uterus of 16 weeks gestation with intact left rudimentary horn pregnancy of around 16 weeks. A vessel running superficially over the rudimentary horn had been torn, probably due to expansion of the horn (). Around 1L of haemoperitoneum was drained. Non communicating rudimentary horn was attached to the main uterus with a fibro muscular band which was then excised. Both the ovaries and the Fallopian tubes were normal. The intrauterine pregnancy was left untouched.\nThree units of packed cell blood transfusion were given intraoperatively. The intrauterine pregnancy was supported with progesterone and uterine relaxants given intraoperatively and progesterone was continued up to 4 weeks postoperatively. The postoperative period was uneventful. The patient went into spontaneous labor at 37 weeks of gestation and delivered a healthy baby boy weighing 2.8 kg. There were no postnatal maternal and neonatal complications. On histopathological examination sectioning showed a fetus with a crown-rump length of 122 mm. Microscopy Sections showed normal villi within a thickened smooth muscle cavity. Few endometrial glands and stroma were seen within the muscle layer. The findings were consistent with rudimentary horn pregnancy (). Consent from the patient was taken for publication of case report.\nDifferential diagnosis\n• Ruptured tubal (cornual) ectopic pregnancy with an intrauterine pregnancy\n• Twin pregnancy in bicornuate uterus\n• Twin pregnancy occupying the unicornuate uterus and its associated rudimentary horn. |
A 51-year-old male weighing 131 kilograms (kg) presented to the emergency department (ED) via ambulance with altered mental status and slurred speech after undergoing cervical epidural injection with two milliliters (mL) of 2% lidocaine (40 milligrams [mg]) under fluoroscopic guidance in an ambulatory setting. He became unresponsive during the injection with subsequent brief convulsive activity for which he was given 2 mg of midazolam. Emergency medical services was called and found him obtunded with shallow breathing and low oxygen saturations requiring ventilation assistance. On arrival to the ED his breathing was spontaneous and erratic with low oxygen saturations. He remained somnolent with slurred speech, unable to answer questions appropriately or follow commands. Preparations were made for intubation given altered mental status and low oxygen saturations; however, oxygen saturations and mental status improved within the first 10 minutes of arrival and ultimately intubation was not required.\nOn cardiopulmonary monitor he was noted to have an irregularly irregular heart rhythm. Electrocardiogram showed atrial fibrillation with a rate of 82 beats per minute. Hemodynamically he was stable. He converted to normal sinus rhythm 20 minutes later. He reported no history of atrial fibrillation. Within 60 minutes of ED arrival the patient’s mental status was back to baseline without recollection of the events that had occurred after the start of the procedure. He only had chest wall pain, possibly from sternal rub or from any bystander chest compressions that may have been performed when he became unresponsive. Imaging studies obtained included the following: chest radiograph, computed tomography (CT) of the head, CT angiogram of the head and neck, and CT of the chest with intravenous contrast. No pertinent imaging abnormalities were identified. Serum/plasma levels of lidocaine and its primary active metabolite, monoethylglycinexylidide (MEGX) were obtained 15 minutes after patient arrival. Both levels returned undetectable. The patient was observed overnight in the hospital and remained asymptomatic and without any further dysrhythmia. He was discharged home the following day on aspirin 325 mg daily and with a referral to outpatient cardiology. |
A 9-year-old Malay girl was incidentally found to be cyanotic when she presented to a health clinic for acute food poisoning. She was well prior to this and there was no history of reduced effort tolerance, syncopal attack or chest pain. No history of recent drug ingestion was noted. The parents noticed that she had bluish discolouration of the lips and fingernails since the age of 6 years old but did not seek any treatment as she was asymptomatic. Antenatal history was uneventful and she was born term with birth weight of 3 kg. Both her parents were non-consanguineous and she was the youngest out of 4 siblings. Her father and second brother also had cyanosis but were otherwise well while her mother and the other two siblings were normal (Figure 1).\nClinically, she was alert and cheerful. She had cyanosis and her SpO2 on room air was 60-65 %. Otherwise, she was not tachycardic or tachypnoeic and her blood pressure was normal. She was thriving with her growth parameters at the 50th percentile on the growth chart. Examination of the cardiovascular system revealed normal first and second heart sounds with no murmur heard. Echocardiogram done revealed normal intracardiac anatomy and function. Other systems were unremarkable.\nFamily study was performed on the individuals with cyanosis (Figure 2). The venous blood samples were collected and showed distinct dark brown colour from the affected family members as opposed to normal colour from the healthy control and unaffected mother (Figure 3). A drop of patient's venous blood was placed onto filter paper with the exposure of atmospheric oxygen for 10 minutes. The blood's colour remained as dark brown because the ferric iron (Fe3+) in metHb was unable to carry oxygen despite oxygenation. In contrast, a drop of healthy control's venous blood turned to bright red after exposure of atmospheric oxygen (Figure 4) due to conversion of deoxygenated Hb to oxygenated Hb.\nThe patient's full blood picture was normal but showed microcytic hypochromic erythrocytes in her father and brother. Patient and her father had slightly elevated of serum total bilirubin (30 µmlo/L and 38 µmol/L respectively) but the brother's result was normal (20 µmol/L). Blood gas analysis displayed raised metHb levels (Patient: 13.7 %, Father: 11.3 %, Brother: 11.9 %). Hb electrophoresis at alkaline pH showed abnormal band in between HbA2 and HbS (Figure 5) while at acidic pH showed abnormal band in between HbA and HbS (Figure 6). Capillary electrophoresis (CE) of Hb showed variant Hb (Patient: 5.3 %, Father: 4.1 %, Brother: 3.7 %) at zone 4. High-performance liquid chromatography (HPLC) of Hb demonstrated an unknown peak at retention time of 4.84 min with the levels of 20 % in patient (Figure 7) and 16.7 % in brother but no result for father due to insufficient sample. Besides, there was slightly raised of HbA2 in three of them (Patient: HPLC 4.3 %, CE 4.7 %; Father: CE 4.2 %; Brother: HPLC 4.1 %, CE 4.4 %). The HbF level was also slightly elevated in them (Patient: HPLC 1.9 %, CE 1.5 %; Father: CE 1.3 %; Brother: HPLC 1.9 %, CE 1.8 %). Deoxyribonucleic acid (DNA) analysis of deletional α thalassemia by multiplex polymerase chain reaction (PCR) showed αα/αα in patient but αα/-α3.7 in her father and brother. β gene sequencing confirmed a point mutation of CAC>TAC on codon 92 in one of the β genes in three of them (Figure 8). The final diagnosis in the patient was heterozygous Hb-M Hyde Park. Her father and brother were diagnosed as heterozygous Hb-M Hyde Park with concomitant heterozygous α+ thalassemia trait. Genetic counselling was given to the affected family members. No specific treatment is required although cyanosis was present, the patients were relatively asymptomatic. |
A 20-year-old woman was admitted to the ophthalmology department with progressive bilateral upper eyelid swelling for 6 months. She had no other symptoms related to her eyes. A physical examination revealed dry mouth and nasal congestion. She had a history of triamcinolone (Nasacort) nasal spray usage for nasal congestion for nine months. Her family history was unremarkable. Her best corrected visual acuity was 10/10 in both eyes. The only pathologic finding identified through slit-lamp biomicroscopy was the presence of bilateral, symmetrical, solid, lobular masses in the lateral upper eyelids at the location of the lacrimal glands (). There was no proptosis. The patient’s dilated fundus examination was unremarkable. Intraocular pressure was measured as 16 mmHg in both eyes. Pupillary response to light and eye movements was normal. The result of a Schirmer test without anaesthesia was 1 mm/5 minutes in both eyes.\nSkin examination revealed subcutaneous nodules in the scalp. Upon systemic examination, the bilateral parotid and submandibular glands appeared swollen (). Magnetic resonance imaging (MRI) of the orbit revealed involvement of the superior eyelids and the anterior orbit and bilateral symmetrical diffuse enlargement of the lacrimal glands with an isointense signal intensity relative to muscle on T1-weighted images and a hypointense signal intensity on T2-weighted images (). On MRI, the maximum and minimum thicknesses of the lacrimal glands were 11 mm and 7 mm, respectively. Parotid and submandibular glands were evaluated with ultrasound and MRI. Neck ultrasonography showed heterogeneous and hypoechoic areas in the parotid and submandibular glands bilaterally. MRI of the neck showed bilateral cervical lymph nodes of pathological size and bilateral enlargement of the parotid and submandibular glands with a heterogeneous appearance. For definitive diagnosis, a lacrimal gland biopsy was taken from the orbital lobe using an upper lid crease incision. Microscopic examination showed discrete non-necrotising granulomas (). Acid fast bacilli were not identified by Ehrlich-Ziehl-Neelsen staining. Lymphoma was not considered in the differential diagnosis because of the absence of numerous atypical lymphocytes. The biopsy findings were consistent with sarcoidosis.\nThe patient was referred to the chest disease department for pulmonary involvement. Laboratory examination showed an elevated angiotensin converting enzyme level of 63 U/L. Blood and urine calcium levels were within normal limits. The tuberculin skin test result was anergic. A chest x-ray demonstrated bilateral hilar enlargement. A thoracic computer tomography revealed bilateral hilar, subcarinal, and aortopulmonary lymphadenopathies as well as perilymphatic and peribronchovascular nodules in both lungs. Pulmonary function test results (maximal expiratory flows with spirometry and diffusion capacity test) were normal. No treatment was recommended for the pulmonary involvement.\nDue to the enlarged lacrimal glands and the eyelid and anterior orbital involvement affecting the patient’s visual capacity, oral methylprednisolone 0.5 mg/kg/day was prescribed. Symptomatic improvement soon became evident, and at the 21st day of treatment the steroid dose was reduced to 4 mg/2 weeks. The patient was treated with tapered dose steroids for nine months, and no relapse was observed at the first year follow-up (). After the treatment, the Schirmer test result without anaesthesia was 4 mm/5 minutes in both eyes. |
A 43-year-old Indian lady presented with itchy rash with distinct indurated margins extending across her anterior chest, abdomen and parts of her neck. The affected skin was teetered to the underlying structures with some crusting over both breasts (Fig. ). The rash had started from the right infra-mammary region and had gradually spread to this entire area over a period of ∼2 years. There was no history of weight loss, fever or breast lump. She did not have diabetes mellitus or immunodeficiency. She was treated by general practitioners and dermatologists over this period with multiple oral and topical antibiotics and steroids, with no relief. Even topical antifungals and unknown indigenous emollients had been applied to her skin (which is quite a common practice in rural India) over this time. She also gave history of progressive spreading of erythema along with change of color and oozing for last 3–4 months. No definite mass was palpable in her breasts, but axillary lymph nodes were palpable on the right side. General and systemic examination showed evidence of pleural effusion on the right side. Her routine blood examinations were normal. We advised punch skin biopsies, which proved inconclusive.\nFull-thickness skin biopsies from multiple sites were taken for histological exam and reviewed at multiple centers (Fig. ). They showed clusters of pleomorphic malignant cells invading the papillary dermis, lymphatic channels and spreading in-between the collagen bundles with positive immunostaining for cytokeratin 7, estrogen receptor (ER), gross cystic disease fluid protein 15 (GCDFP-15) and AE1/AE3 (Figs –). Contrast enhanced CT scan (CECT) chest and abdomen showed moderate right-sided pleural effusion and suspicious mass in the right breast with multiple bony metastases (Figs and ). Examination of the pleural fluid showed a hemorrhagic effusion with plenty of pleomorphic cells suggestive of adenocarcinoma. Based on radiological findings and histopathological evidence of metastasis, she was diagnosed as Breast Cancer with metastasis. Chemotherapy with Danorubicin and Etopocide along with supportive therapy including Zolundronic acid was started as palliative treatment after oncology revision. Unfortunately, she expired after her third chemotherapy cycle. |
An 18-year-old male presented to our institution in 2014 with headaches and vomiting for two weeks. A magnetic resonance image (MRI) of his brain showed a complex extra-axial dumbbell-shaped lesion with the epicenter in the left Meckel’s cave, extending anteriorly to the cavernous sinus and the cerebellopontine (CP) angle posteriorly with mass effect over the brainstem. He underwent a left retromastoid craniectomy and decompression of left CP angle lesion elsewhere. The histopathology was suggestive of malignant melanoma, and he was referred to our institution for further management.\nHis general physical examination revealed a deep gray-blue nevus over the left upper eyelid, extending to the frontal and temporal region. He had dysarthria, left upper motor neuron facial nerve palsy, and right hemiparesis with Grade 4 power in his right upper and lower limbs. The biopsy of the nevus over his left eyelid was reported as superficial, and the deep dermal dendritic melanocytosis with histological features was suggestive of a blue nevus.\nThe MRI of his brain showed a large contrast-enhanced extra-axial mass with solid and cystic components measuring 4 cm x 2 cm x 3 cm in the left cavernous sinus extending through the Meckel’s cave into the posterior fossa (Figure ). A whole-body positron emission tomography-computed tomography (PET-CT) scan confirmed no extracranial disease. He underwent a left temporal craniotomy and zygomatic osteotomy, and we took an interdural middle cranial fossa approach for the radical excision of the tumor.\nPerioperatively, we noted the blue nevus on the left side of the forehead in the ophthalmic distribution of the trigeminal nerve. The pigmentation extended into the subcutaneous tissue and galea. The diploe of the temporal bone was also pigmented. The entire temporal dural convexity was pigmented completely black as were the dural root sleeves of the trigeminal nerve and the lateral and medial walls of the cavernous sinus. The tumor was localized in the cavernous sinus and had a well-defined capsule surrounding the divisions of the fifth cranial nerve. It extended into the posterior fossa through Meckel’s cave. The tumor was completely removed via the cavernous sinus through an interdural approach.\nThe surgical specimen revealed a tumor composed of sheets of moderately large polygonal cells with markedly pleomorphic nuclei with evidence of mitotic activity with foci of necrosis, and occasional cells with intracytoplasmic melanin (Figure ). We also saw small segments of nerve containing ganglion cells with perineural deposits of melanin. The tumor cells showed diffuse positivity for S100 protein and Melan A. Occasional cells were positive for human melanin black (HMB)-45. The ki67/mib-1 was 20% to 25%.\nGiven the coexistent skin lesion reported as a blue nevus, neurocutaneous melanoma was considered as the provisional diagnosis. The postoperative hyperacute MRI showed no residual tumor. His symptoms gradually resolved after surgery. He received postoperative intensity modulated radiotherapy to the tumor bed (4950 cGy in 22 fractions to the planning target volume with a biologically effective dose [BED] of 60.39 Gy and an equivalent dose in 2 Gy fractions [EQD2] of 50.32). He was closely monitored during the follow-up period.\nHe presented again about 20 months later with recurrent symptoms of headaches for two months and diplopia and vomiting for two days. On examination, sensations over the V1, V2, and V3 dermatomes were reduced on the left side. There was masseter and temporalis muscle wasting on the left side with impaired blinking in both eyes. His spino-motor system and higher mental functions were found to be normal.\nA lobulated heterogenous signal intensity mass lesion was seen in the left CP angle and Meckel’s cave. The mass is predominantly isointense and weighted T1, and T2 images were hypointense (Figure ). Various other similar intensity lesions were seen along the left tentorium suggestive of recurrent meningeal carcinomatosis.\nThe brain MRI with contrast showed a recurrent mass in the left Meckel’s cave extending into the CP angle compressing the brainstem. Another lesion of a similar nature was seen in the lateral aspect of the cerebellum. There was evidence of thickening and abnormal enhancement of the adjacent pachymeninges and leptomeninges suggesting disease recurrence with leptomeningeal spread. He was further evaluated with a CT of his thorax and abdomen which ruled out extracranial disease.\nHe underwent a left retromastoid suboccipital re-exploration and subtotal excision of the tumor. A postoperative CT scan of his brain showed no residual disease. However, the patient died five months after the second surgery. |
An 18 year old woman was referred to our outpatient clinic of Endocrinology, University-Hospital of Naples Federico II because of hypothyroidism due to Hashimoto's thyroiditis. Blood samples showed high levels of thyroperoxidase and thyroglobulin antibodies and normal calcitonin serum levels. The patient was euthyroid with normal serum levels of thyroid-stimulating hormone (TSH), free triiodothyronine (FT3), and free thyroxine (FT4) during replacement therapy with L-T4. At physical examination, a palpable nodule of ~2 cm in size was detected in the isthmus of the thyroid. There were no palpable cervical lymph-nodes. An US evaluation confirmed an isolated lesion located in the isthmus, showing an isoechoic solid nodule with smooth margins; its size was 18 × 13 × 6 mm with intra and perilesional vascularity (Figure ). Therefore, a FNA was performed and cytological results revealed a TIR3A lesion. The cytological specimen showed an increased cellularity with some microfollicular structures in the background of scant colloid (Figure ). Thus, we assessed the risk factors associated with the isolated TIR 3A nodule of our patient. According to the ATA guidelines we repeated the FNA which confirmed the same result (TIR3A). The second US (after 6 months) showed that there were no clear signs suggesting malignancy such as microcalcifications or taller than wide-shaped nodules. However, we found a small hypoechoic cranial component in the nodule with blurred margins and elastography revealed an increased stiffness in this cranial component. No nodules were detected in the contralateral lobes by US; cervical lymph nodes were normal. Among the possible risk factors, our patient referred a familial history of thyroid cancer. Her mother was submitted to total thyroidectomy for a follicular variant of PTC twenty years ago; our subsequent evaluation showed that she was disease free at the moment.\nOn this basis, we decided that a surgical treatment was indicated for our patient and assessed the risk/benefit of total thyroidectomy vs. isthmusectomy. |
A 79-year-old man was admitted to our emergency room complaining fatigue, generalized weakness, nausea, and worsening of usual diplopia, following an episode of bronchitis treated with cephalosporins. Moreover, he received flu vaccination a few weeks before the onset.\nMG was diagnosed 8 years earlier after the onset of lid ptosis and head drop (class IIA according to the MGFA classification). Antibodies against acetylcholine receptor (AChR) and ryanodine receptor (RyR) were detected, but chest CT scan was negative for thymoma. So far, clinical symptoms had always been well-controlled by pyridostigmine, azathioprine, and low doses of steroids. Last neurological examination, performed 2 months earlier, revealed only mild diplopia on left lateral gaze after prolonged fixation.\nThe patient also suffered from a mild iatrogenic chronic sensorimotor axonal polyneuropathy due to chemotherapy administered after surgical resection of colon cancer; he also underwent ablation of two metastatic lesions in the liver, but the subsequent oncological follow-up was reported negative.\nOn admission, neurological examination revealed diplopia on lateral gaze, limitation in upward gaze, mild ptosis of the left eye after prolonged fixation, uncertainties at finger-to-nose test, mild proximal limb muscles fatigability, and absence of knee and Achilles reflexes. Brain CT scan and chest X-rays were negative.\nA putative diagnosis of worsening of myasthenia gravis was made and the patient was hospitalized due to concerns of respiratory failure, considering the age and the recent infection. Absence of lower limbs deep tendon reflexes was initially ascribed to the polyneuropathy. On admission, taking into account the mild presenting symptoms and the absence of respiratory involvement, Prednisone and Azathioprine dosages were increased (respectively from 7.5 to 12.5 and from 50 to 75 mg), withholding standard treatments for MG exacerbation, such as intravenous immunoglobulin or plasmapheresis.\nIn the first days of hospitalization, the patient developed progressive worsening of ocular movement abnormalities with horizontal and vertical gaze limitation, mild fluctuating diplopia in primary and lateral gaze, nystagmus on left lateral gaze, limb ataxia, and wide-based gait with multi-directional sways during Romberg maneuver. Additional findings included partial ptosis of the left eye, hands tingling, mild proximal weakness in lower limb, dysarthria, and facial asymmetry; nausea and episodes of vomiting persisted. While ophthalmoparesis could be compatible with MG, other clinical features suggested a different etiology.\nDespite the fact that one of the most common presentations of MG is represented by ocular symptoms, acute bilateral ophthalmoparesis can be also attributed to various etiologies ().\nBlood tests were unremarkable, except for mild hypercholesterolemia and increase of inflammatory indexes (C-reactive protein 0.71 mg/dl—normal value <0.5 mg/dl; erythrocyte sedimentation rate 35—normal value <20). Thyroid function, serum folic acid, and vitamin B12 dosages were normal. Antibodies against AChR and GQ1b were dosed.\nElectromyography, performed after 5 days from the symptom onset, revealed mildly increased latency of the compound muscle action potential (CMAP) of the right facial nerve and moderate chronic neurogenic abnormalities in the muscles innervated by the right L5 and the right C5–C6 nerve roots; right tibial and right ulnar nerve F-wave latency was normal. Repetitive nerve stimulation did not show a decremental response.\nBrain MRI revealed only mild chronic cerebrovascular disease and mild cortical and subcortical atrophy, without signs of acute cerebral lesions or Wernicke's encephalopathy ().\nClinical symptoms worsened up to complete external ophthalmoplegia and inability to walk unsupported with almost complete disappearance of upper limb reflexes. Another electromyography was repeated 3 days later, displaying a predominantly sensory polyradiculoneuropathy, characterized by increased facial nerve latency and absence of sural, ulnar, and radial sensory nerve action potentials (SNAP) (); ulnar nerve F-wave seemed not clearly detectable.\nCerebrospinal fluid (CSF) analysis, including virological investigations, was performed 6 days after symptom onset and resulted unremarkable, without albuminocytological dissociation (cells <1/mmc, proteins 24 mg/dl). Serum and CSF oligoclonal banding were absent.\nOncological screening, including neoplastic markers and full-body CT scan with contrast, performed due to the medical history of the subject, was negative for malignancies.\nThe workup suggested a diagnosis of acute polyradiculoneuropathy; thus, the patient was treated with five sessions of plasmapheresis, leading to stabilization of the clinical features and subsequent slow mild clinical improvement, especially of limb ataxia and, at a lesser extent, of gait ataxia and diplopia. Nausea and episodes of vomiting decreased too.\nAntibodies against ganglioside GQ1b turned out to be positive at high titer on serum (IgM 1/2560 and IgG 1/5120; cut-off <1/640), confirming the diagnosis of Miller-Fisher syndrome (MFS). Antibodies against AChR were positive but lower compared to the last known titer (36.3 pmol/ml → 7.2 pmol/ml; normal values < 0.5 pmol/ml).\nAt discharge, the patient still presented severe ophthalmoparesis (only minimal ocular movements were possible), exhaustible left palpebral ptosis, facial asymmetry, gait ataxia (need for external support, maintenance of Romberg with multi-directional swinging with closed eyes), and slight weakness in proximal lower limb muscles, and brachioradialis reflex reappeared, though greatly reduced.\nThe patient underwent a cycle of physiotherapy and rehabilitation. After 2 months, without further therapy modifications, he was able to walk independently and the ophthalmoparesis markedly improved. Clinical evaluation showed mild convergence strabismus in primary position, mild limitation in horizontal and upward gaze, diplopia after 15 s on left lateral gaze, mild ptosis in the left eye after exercise, presence of the biceps and patellar reflexes, absence of limb or gait ataxia. Last electromyography showed a slightly prolonged ulnar F wave and persistence of the axonal sensory polyneuropathy. |
A 19-year-old girl presented with complaints of three episodes which mimic seizures during sleep over the past 3 months, first episode was characterized by loss of consciousness, tonic-clonic movements of both upper and lower limb, upward rolling of eyeballs, and tongue bite with postictal confusion lasting for 10 minutes, and the subsequent episodes were characterized by tonic-clonic movements of both upper and lower limbs and chanting “om namashivaya,” followed by unresponsiveness lasting for 10 to 15 minutes. Patient would sleep after these episodes and did not have any memories of those episodes. Then, one morning while sleeping she developed myoclonic jerks and screamed out of her bed with acute confusion, psychomotor agitation, and irrelevant talk which lasted for three days and was then brought to psychiatry OPD. There was no history suggestive of fever, headache, vomiting, and focal neurological deficits during this period. Physical examination was unremarkable. On examination, patient was restless, disoriented, producing abnormal clicking sound, and not obeying verbal commands. Patient was admitted to psychiatric ward for diagnostic clarification and further management. Patient was started on oral benzodiazepines and her behaviour was closely monitored. Her sleep and communication remained poor and she required assistance for maintaining her personal hygiene. Routine lab examinations were within normal limits. Her EEG recording showed normal study, and ultrasound abdomen and MRI brain plain and contrast were reported to be normal. Over the next couple of days, she was noticed to be pacing around aimlessly and started exhibiting abnormal behaviours such as dancing and crawling like snake. These behaviours varied over the days and she developed posturing, echopraxia, echolalia, and ambivalence subsequently. For these symptoms patient was started on injectable lorazepam 6 mg per day in three divided doses. Since patient's status remained the same after few days, she was started with oral olanzapine 5 mg/day which was gradually increased to 15 mg/day. Meanwhile, patient was evaluated for the possibility of infective etiology, which was ruled out by neurophysician. The CSF analysis showed normal cell count, protein, and glucose levels. Thereafter patient was evaluated for autoimmune encephalopathies. On investigation, patient had high serum anti-TPO antibodies of 1261.4 U/mL (normal < 60) with euthyroid status and negative for other autoimmune encephalopathies including antibodies for voltage gated potassium channel, which supported a suspicion of Hashimoto's encephalopathy. Therefore, again neurophysician consultation was sought and started on methyl prednisolone 750 mg/day intravenously for 5 days, followed by oral prednisolone 45 mg/day. Thereafter, patient started showing significant improvement clinically. Corticosteroids were gradually tapered over a period of 4 months and her antipsychotic medications were tapered off. On follow-up, patient recovered symptomatically and started functioning well. |
A fifty-six-year-old nulligravid woman was admitted to the emergency service of a community hospital with shortness of breath and mild chest pain. The clinical workup revealed deep vein thrombosis in her right leg and bilateral massive PTE. As the abdominal sections on the spiral computerized tomography (CT) scan revealed a giant pelvic mass of ovarian origin with septa, solid component, and ascites, she was referred to our hospital's gynecologic oncology department after initial anticoagulant treatment with unfractionated intravenous (IV) heparin. Her initial examination was remarkable for pelvic mass up to the level of umbilicus and mild orthopnea. In the repeated abdominal CT scan, a 165 × 130 × 90 mm solid cystic mass probably originated from the left ovary, ascites, and splenic infarcts were seen (). Her CA-125 value was 23000 U/mL, fibrinogen was 795 mg/dL, and D-Dimer was 20 mg/dL. After consultation with our pulmonology department, she was scheduled for surgery under enoxaparin 0.8 mL b.i.d.\nTwo days before the planned day of surgery, the patient described numbness on one side of her face. The patient was examined by a neurologist and a cranial CT scan was found to be normal. In the night before surgery, the patient developed sudden aphasia and dizziness. In the cranial diffusion MRI, there were multiple lesions at the border zones and there was a huge acute infarct at right temporal zone. She was started on IV heparin treatment immediately after the diagnosis. Transesophageal echocardiogram (TEE) showed 7 × 2 mm vegetation on the mitral cusp. Despite IV heparin treatment for almost 48 hours, her neurological examination did not improve and got worsened. The patient became lethargic and she started to have episodic seizures. After an urgent bedside consultation with the neurology department and having informed consent from the patient, she was taken to the operation room and underwent hysterectomy with bilateral salpingo-oophorectomy and infracolic omentectomy under anticoagulation treatment with full dose IV heparin (). After tumor resection, her neurological symptoms dissolved gradually with ongoing anticoagulant treatment.\nPathology result was synchronous stage IA, grade 2, endometrioid endometrial adenocarcinoma and stage IC grade 2 endometrioid ovarian adenocarcinoma. She received six cycles of platinum based adjuvant chemotherapy. At one-year follow-up, her abdominal CT scan showed no evidence of disease and her aphasia almost disappeared with speech therapy. |
A 31-year-old male patient presented to a tertiary eye center in Western India with complaint of gradual painless decreasing vision in both eyes, predominantly in the right eye, for the past 2 years. The patient was previously diagnosed elsewhere with vasculitis before 2 years and was treated for the same with oral steroids, of which no details were available. The patient discontinued the treatment after 2 months by himself and was on no treatment since then. Best-corrected visual acuity in the right and left eyes were 6/36, N12 and 6/9, N6, respectively. IOP was 14 mmHg in both eyes. The anterior segment was unremarkable. Dilated fundus evaluation [] showed areas of peripapillary retinal pigment epithelium (RPE) atrophy along with peripheral bony spicule pigmentation in both eyes. Multicolor imaging [] modality highlighted the areas of atrophy. The infrared reflectance channel [] revealed the areas of atrophy, while the green and blue reflectance channels [], which draw attention to the superficial retinal lesions, were relatively silent. Fundus autofluorescence (FAF) [] of the right eye showed a hyperautofluorescent patch with a distinct margin surrounding the disc and involving the posterior pole, whereas the left eye showed a hyperautofluorescent patch with a distinct margin mainly surrounding the disc while sparing the macula. The IR-AF channel [] in both eyes highlighted the boundaries of the hyperautofluorescent patch and revealed multiple dark spicules nasal, inferior and superior to the disc. The spectral domain optical coherence tomography (SD-OCT) [] showed foveal thinning in the right eye along with the loss of external limiting membrane (ELM) and ellipsoid zone in the parafoveal region in both eyes, along with the presence of multiple hyperreflective foci in the outer retina and inner choroid. Fundus fluorescence angiography showed window defects with no leaks, and indocyanine green angiography showed no abnormality. The Humphrey visual field 30-2 showed an enlarged blind spot and temporal scotoma in both eyes, not respecting the horizontal meridian. Both eyes full-field electroretinographic (ERG) showed reduced photopic and scotopic response, right eye more than the left eye. With the above multimodal imaging signatures, a diagnosis of both eyes AZOOR was made more definitively. The patient was referred to a physician for steroid clearance for commencing further treatment. |
Mr. V., a 48-year-old right-handed man diagnosed to have alcohol dependence syndrome with alcohol-induced psychotic disorder presented to us in October 2013 with persistent auditory verbal hallucinations for nearly 3 years with only partial improvement with adequate trial of multiple antipsychotics. He was diagnosed with psoriasis by a dermatologist elsewhere and was on topical treatment since 15 years. Plaque type psoriatic lesions were present on the scalp, especially in the left temporo-parietal region. Patient's psychopathology was assessed using auditory hallucinations subscale (AHS) of Psychotic Symptom Rating Scales (PSYRATS)[] and the score was 35. In view of persistent auditory hallucinations and considering the risk benefit ratio, the option of tDCS as an add-on treatment along with antipsychotics was considered.\nThe patient as well as his primary caregiver was provided with adequate information regarding the procedure, and a video of the tDCS procedure was also shown. tDCS procedures were done using a standard equipment (Neuroconn DC Stimulator Plus, ) as per established guidelines with stringent safety measures.[] The anode was placed with the middle of the electrode over a point midway between F3 and FP1 (left dorsolateral prefrontal cortex) and the cathode located over a point midway between T3 and P3 (left temporo-parietal junction). The stimulation level was set at 2 mA for 20 minutes. The sessions were conducted twice a day (separated by at least 3 hours) on 5 consecutive days.[] At the end of each session, a structured questionnaire was used to assess for any potential adverse effects.[] In addition to this, the skin under the electrodes was examined for any lesion after each session.\nAfter second day, patient started reporting improvement in symptoms. He appreciated a significant decrease in duration and frequency of auditory hallucinations. Repeat AHS score on day 5, at the end of 10th session was 25. Subjectively, the patient reported significant improvement in the distress due to hallucinations. Assessment of adverse effect revealed only tingling sensation (restricted to the time of electrode application) which was rated as mild and tolerable by the patient. There was no erythema or burns at the electrode site. |
An 18-year-old male presented to our institution in 2014 with headaches and vomiting for two weeks. A magnetic resonance image (MRI) of his brain showed a complex extra-axial dumbbell-shaped lesion with the epicenter in the left Meckel’s cave, extending anteriorly to the cavernous sinus and the cerebellopontine (CP) angle posteriorly with mass effect over the brainstem. He underwent a left retromastoid craniectomy and decompression of left CP angle lesion elsewhere. The histopathology was suggestive of malignant melanoma, and he was referred to our institution for further management.\nHis general physical examination revealed a deep gray-blue nevus over the left upper eyelid, extending to the frontal and temporal region. He had dysarthria, left upper motor neuron facial nerve palsy, and right hemiparesis with Grade 4 power in his right upper and lower limbs. The biopsy of the nevus over his left eyelid was reported as superficial, and the deep dermal dendritic melanocytosis with histological features was suggestive of a blue nevus.\nThe MRI of his brain showed a large contrast-enhanced extra-axial mass with solid and cystic components measuring 4 cm x 2 cm x 3 cm in the left cavernous sinus extending through the Meckel’s cave into the posterior fossa (Figure ). A whole-body positron emission tomography-computed tomography (PET-CT) scan confirmed no extracranial disease. He underwent a left temporal craniotomy and zygomatic osteotomy, and we took an interdural middle cranial fossa approach for the radical excision of the tumor.\nPerioperatively, we noted the blue nevus on the left side of the forehead in the ophthalmic distribution of the trigeminal nerve. The pigmentation extended into the subcutaneous tissue and galea. The diploe of the temporal bone was also pigmented. The entire temporal dural convexity was pigmented completely black as were the dural root sleeves of the trigeminal nerve and the lateral and medial walls of the cavernous sinus. The tumor was localized in the cavernous sinus and had a well-defined capsule surrounding the divisions of the fifth cranial nerve. It extended into the posterior fossa through Meckel’s cave. The tumor was completely removed via the cavernous sinus through an interdural approach.\nThe surgical specimen revealed a tumor composed of sheets of moderately large polygonal cells with markedly pleomorphic nuclei with evidence of mitotic activity with foci of necrosis, and occasional cells with intracytoplasmic melanin (Figure ). We also saw small segments of nerve containing ganglion cells with perineural deposits of melanin. The tumor cells showed diffuse positivity for S100 protein and Melan A. Occasional cells were positive for human melanin black (HMB)-45. The ki67/mib-1 was 20% to 25%.\nGiven the coexistent skin lesion reported as a blue nevus, neurocutaneous melanoma was considered as the provisional diagnosis. The postoperative hyperacute MRI showed no residual tumor. His symptoms gradually resolved after surgery. He received postoperative intensity modulated radiotherapy to the tumor bed (4950 cGy in 22 fractions to the planning target volume with a biologically effective dose [BED] of 60.39 Gy and an equivalent dose in 2 Gy fractions [EQD2] of 50.32). He was closely monitored during the follow-up period.\nHe presented again about 20 months later with recurrent symptoms of headaches for two months and diplopia and vomiting for two days. On examination, sensations over the V1, V2, and V3 dermatomes were reduced on the left side. There was masseter and temporalis muscle wasting on the left side with impaired blinking in both eyes. His spino-motor system and higher mental functions were found to be normal.\nA lobulated heterogenous signal intensity mass lesion was seen in the left CP angle and Meckel’s cave. The mass is predominantly isointense and weighted T1, and T2 images were hypointense (Figure ). Various other similar intensity lesions were seen along the left tentorium suggestive of recurrent meningeal carcinomatosis.\nThe brain MRI with contrast showed a recurrent mass in the left Meckel’s cave extending into the CP angle compressing the brainstem. Another lesion of a similar nature was seen in the lateral aspect of the cerebellum. There was evidence of thickening and abnormal enhancement of the adjacent pachymeninges and leptomeninges suggesting disease recurrence with leptomeningeal spread. He was further evaluated with a CT of his thorax and abdomen which ruled out extracranial disease.\nHe underwent a left retromastoid suboccipital re-exploration and subtotal excision of the tumor. A postoperative CT scan of his brain showed no residual disease. However, the patient died five months after the second surgery. |
A 31-year-old woman, gravida 2 para 1, presented for a prenatal ultrasonographic examination at 36 gestational weeks owing to a suspicion of a fetal thoracic wall defect. Her personal history revealed a spontaneous abortion and no consanguinity. She underwent routine ultrasonographic examinations at 13, 22, and 30 gestational weeks at a regional hospital; however, at 35 gestational weeks, ultrasonography revealed an abnormal fetal thoracic wall.\nPrenatal ultrasonography revealed a fetal thoracoabdominal wall defect with partial displacement of the left ventricle and the liver associated with rotation and elongation of the heart and a high index of clinical suspicion for intracardiac malformations such as tricuspid atresia, a ventricular septal defect, and pulmonary artery hypoplasia (Figures –).\nBased on the aforementioned findings, she was admitted to the Obstetrics and Gynecology Clinic in Târgu Mure at 39 gestational weeks, where she underwent a cesarean section. The male newborn weighed 3,100 g with an APGAR score of 7. Clinically, he demonstrated a superior abdominal wall defect, a partial extrathoracic displacement of the heart, and a partially herniated liver (these structures being covered by a very thin skin layer), and also a diastasis of the sagittal suture (Figure ). The newborn was intubated, and we applied a saline-soaked gauze pad on the thoracoabdominal and cranial defects to maintain humidity.\nPostnatal echocardiography confirmed the prenatal diagnosis and also showed a partial extrathoracic and extra-abdominal displacement of the heart and liver, a large ventricular septal defect, great arteries originating from the left ventricle with the aorta situated anteriorly, a posterior deviation of the outlet septum causing severe subpulmonary stenosis, hypoplasia of the pulmonary artery, and a large hourglass-shaped left ventricle secondary to narrowing of the heart at the level of its extrathoracic displacement.\nWe also performed thoracoabdominal CT-angiography, which showed complex cardiac malformations consisting of large ventricular and atrial septal defects, an increased left ventricular volume, with apical extrathoracic aneurysmal dilatation below the xiphoid process at the level of the abdominal midline, hypoplasia of the right ventricle, and a reduced caliber of the pulmonary trunk artery. Abdominal CT revealed partial transparietal herniation of the left hepatic lobe adjacent to a left ventricular diverticulum, and an increase in the size of the right adrenal gland with hyperdense contents suggesting an adrenal hematoma. Cranial CT revealed a diastasis of the sagittal suture causing subcutaneous herniation of the venous sagittal sinus.\nFollowing admission to the Neonatal Intensive Care Unit, the newborn was administered ampicillin and amikacin, fluconazole, prostaglandin E, and phenobarbital (because he presented with multiple seizures), and also received daily dressing changes. During the first week of life, he showed multiple episodes of bradycardia and low oxygen saturation despite undergoing orotracheal intubation; therefore, surgical intervention was postponed until he was hemodynamically stable. He underwent surgical intervention at 14 days of age, consisting in the replacement of the heart inside the thorax via a systemico-pulmonary shunt procedure, with vascular prosthesis, the ligature of both persistent arterial canal and pulmonary artery trunk, and repair of the diaphragm defect. The abdominal wall defect was also sutured, but the thorax remained open. The surgical procedure was performed in extracorporeal circulation, and lasted 4 h and 15 min.\nPostoperatively, the newborn developed multiple episodes of tachyarrhythmia and low cardiac output suggesting an inability of the heart to adjust to the intrathoracic pressure. Unfortunately, the newborn died 5 h postoperatively secondary to progressive hemodynamic deterioration, metabolic acidosis, and hypoxia. |
A 46-year-old male patient was admitted to the general surgery ward of our hospital in October 2019 with an abdominal mass. He had no signs of fever, nausea, vomiting, abdominal distension, abdominal pain, urgency, or heavy weight. He had no previous history of abdominal surgery and his physical examination was normal. In laboratory tests, his white blood cells and platelets were 6.39 × 109/L and 263 × 109/L, respectively, and digestive tract tumor markers were within the normal range. Abdominal computed tomography (CT) revealed a round soft-tissue density shadow measuring about 3.3 mm with a smooth edge in the pelvic cavity at the bottom of the bladder. A circular calcification and small round fat mass were also observed, but were less obvious. A contrast-enhanced scan revealed slight delayed contrast-enhancement in the lesion area (). Based on CT examination, the lesion was suspected to be a teratoma.\nAbdominal exploratory laparoscopy was carried out after a complete preoperative examination and provision of signed surgical consent. A pure white, elastic, egg-shaped mass, completely free from the pelvic cavity, diagnosed as a GPLB, was detected in front of the rectum (). The GPLB was removed, and measured approximately 45 mm in diameter (). Following laparoscopic incision, a calcified core was observed in the GPLB, with a diameter of about 15 mm, and the surrounding tissues tended to be more concentric (). A careful assessment of the patient’s previous medical history showed that he had started to complain of bladder irritation about 20 years previously. Histologically, the lesion appeared to be well-circumscribed, with an obvious hyalinized fibrosclerotic center. The middle was composed mainly of adipose tissue, which was partially necrotic, and the periphery comprised wrapped fibrous tissue characterized by significant hyaline degeneration and calcification. Moreover, the lesion was paucicellular, containing bundles of spindled fibroblasts embedded in a collagenous stroma (). The patient felt reasonably well after laparoscopic surgery and was discharged from hospital 3 days later. His symptoms of urinary frequency improved during the 1-month follow-up period.\nThe authors would like to thank the patient for allowing them to publish this case report and for the use of the images taken during his hospital admission. |
A 64-year-old White female with history of stage I squamous cell carcinoma of the right middle lung, renal transplant secondary to membranous glomerulonephritis, history of previous VTE, hypertension, chronic obstructive pulmonary disease, and stage four chronic kidney disease presented to the emergency department (ED) for treatment of deep venous thrombosis (DVT). The patient had been sent by her pulmonologist after obtaining outpatient, lower-extremity venous Doppler ultrasounds earlier that day. The patient had been recently hospitalized for an episode of pneumonia and discharged two weeks prior during which her warfarin had been discontinued for unclear reasons; her history of stage I (T1a, N0) squamous cell cancer of the lung had been only minimally addressed during this admission. The patient had not had a positron emission tomography to assess her tumor staging in nearly 10 months. Additionally, her most recent oncology notes from six months prior following two treatments of stereotactic ablative radiotherapy demonstrated a stable computed tomography (CT) of the thorax and recommended surveillance CT in six months. However, a CT of the abdomen obtained three weeks prior to her ED visit to assess for urinary pathology showed a nonspecific 1.9-centimeter (cm) hypodensity of the liver, potentially concerning for metastatic disease.\nOn the day of her ED evaluation, she endorsed right lower leg swelling without redness and right leg pain causing difficulty with ambulation. She denied weakness or sensory loss, bladder or bowel dysfunction, headache, fever, chest pain, dyspnea, and all other review of systems. The patient’s presenting vital signs were grossly normal as she was afebrile (36.2° Celsius) with a heart rate of 81 beats per minute, respiratory rate of 16 breaths per minute, blood pressure of 136/82 millimeters of mercury (mm Hg), and an oxygen saturation of 97% on room air. The patient’s physical examination was remarkable for mild tenderness in the posterior aspect of the right upper, middle, and lower leg, with intact distal neurovascular status. There was no overlying erythema or edema. The rest of her physical examination was grossly normal, including a neurologic examination without any deficits.\nThe patient’s laboratory workup was remarkable for a creatinine of 2.07 milligrams per deciliter (mg/dL) (normal range 0.57–1.00 mg/dL) and estimated glomerular filtration rate of 25 (normal >58), elevated leukocyte count of 13.2 thousand (K)/microliter (μL) (normal range 3.4–10.8 K/ μL), platelet count of 96 K/μL (normal range 150–379), prothrombin time of 13 seconds (normal range 9.1–12.0), international normalized ratio (INR) of 1.26 (normal range 0.80–1.20), and partial thromboplastin time of 27.6 seconds (normal range 24.4–31.4). Her lower-extremity venous Doppler studies, reviewed upon arrival in the ED, demonstrated acute deep venous occlusive disease of the bilateral peroneal veins and the right common femoral vein in addition to acute superficial occlusion of the right greater saphenous vein.\nGiven the patient’s prior history of VTE, previous renal transplant, and current findings of bilateral DVT, both the vascular surgery and transplant services were consulted; both recommended initiation of intravenous heparin infusion for full anticoagulation treatment. Heparin bolus and drip were initiated. The hospitalist was consulted to admit the patient, agreed with the plan for therapeutic heparin infusion, and noted the patient would now require lifelong anticoagulation given that this was her second episode of VTE. The hematology/oncology service was consulted, but did not evaluate the patient the day of admission. The patient had a non-contrast CT of the thorax performed shortly after initiation of heparin to evaluate for persistent pneumonia. This study demonstrated an enlarging hepatic lesion consistent with metastatic disease that had increased in diameter from 1.9 cm to 2.4 cm over the prior three weeks.\nSix hours after admission, the patient developed a headache. Two hours later she subsequently developed lethargy and confusion, which progressed over minutes to obtundation. The patient was tachypneic, possessed anisocoria, and was hypertensive to a systolic blood pressure of 200 mm Hg. The hospitalist discontinued the heparin drip, called for a code intubation, ordered protamine, and transferred the patient to the intensive care unit. A non-contrast CT head was performed to evaluate for suspected intracranial hemorrhage (ICH). Her CT demonstrated a large right parietal/temporal/occipital hemorrhage and a right subdural hematoma accompanied by 1.8 cm right-to-left midline shift, uncal herniation, and contralateral brainstem compression ( and ). The radiologist did not address potential metastatic etiology of her bleed.\nThe neurosurgery service was consulted and a craniotomy was offered to the patient’s family but was declined after being counseled on the patient’s likely “poor prognosis” even after intervention. Instead, the patient’s family opted to pursue comfort measures. The patient was terminally extubated later that day and shortly thereafter died. |
A 29-year-old never smoker male patient was referred to the Pulmonary Medicine Outpatient Clinic for evaluation of possible drug resistant TB. The patient had received more than 1 year of anti-TB medications with no symptomatic improvement. Patient history and records were reviewed.\nTwo years ago, the patient developed insidious onset right sided pleuritic chest pain associated with a dry cough. It was associated with on and off fever with evening rise of temperature. There was a history of intermittent wheezing without any seasonal worsening and patient had noted 3–4 episodes of streaky hemoptysis. There was no history of anorexia or weight loss. The patient was evaluated at a local health care facility wherein based on the findings of a right sided chest radiographic opacity and thoracic ultrasound demonstrating mild right side pleural effusion, a possibility of pleuro-pulmonary TB was considered, and four-drug anti-TB treatment (directly observed treatment regimen) with first-line drugs was initiated. The patient was reassessed after initial regimen, but there was no radiological response. Sputum smear examination for acid-fast bacilli was negative on multiple occasions. Despite 12 months of regular treatment, there was no improvement in symptoms and cough persisted. The patient was initiated on treatment with an intensified anti-TB regimen (Cat II drugs administered on daily basis for 9 months) along with streptomycin and referred to our center.\nGeneral physical examination was normal. On chest examination, crackles were audible in the right infrascapular area, and breath sounds were reduced in the lower right hemithorax. Routine blood investigations were normal. Sputum cytology was negative for malignant cells. A thoracic computed tomography (CT) scan followed by flexible bronchoscopy was planned.\nContrast-enhanced CT thorax demonstrated a mass lesion measuring 5 cm × 7.5 cm × 4.5 cm in relation to the bronchus intermedius causing its significant luminal compromise with resultant atelectasis and bronchiectatic changes in middle lobe and lower lobe of the right lung [Figure and ]. No significant mediastinal/axillary lymphadenopathy or pleural effusion was noted. Findings were suggestive of a primary endobronchial mass with parenchymal extension with post obstructive pneumonitis changes. Flexible fiberoptic bronchoscopy showed a lobulated endobronchial growth in proximal right intermediate bronchus completely occluding the middle and lower lobe []. Endobronchial biopsy showed a malignant neoplasm comprising squamoid cells and mucin-secreting cells showing mild to moderate cytological atypia. Few mucin-secreting cells were seen lining glandular structures and foci of extracellular mucin were noted []. Occasional mitotic figure was seen, and necrosis was absent. Immunohistochemistry revealed CK5 and CK7 positivity, whereas, CK-20, S-100, and SMA were negative. A diagnosis of MEC (low grade) was given. Positron emission tomography-CT scan showed no significant uptake apart from the right lung mass. The patient underwent right middle and lower lobectomy and his postoperative period was uneventful. The final histopathology report was consistent with the result of the bronchoscopic biopsy. Follow-up bronchoscopy performed after 1 year showed an intact suture line with no tumor recurrence. |
The patient was a 54-year-old female who was admitted to hospital for management of hemodialysis related hypotension and treatment of a 6.5 cm, stage 4 decubitus ulceration of the skin and soft tissues around the coccyx. Her past medical history was remarkable for multiple comorbidities including stage 5 chronic kidney disease (end-stage renal disease), secondary hyperparathyroidism with associated renal osteodystrophy with lytic bone lesions, hypertension, chronic obstructive pulmonary disease, pulmonary hypertension, diabetes mellitus type II, paranoid schizophrenia, recurrent gastrointestinal bleeding, prior aortic valve endocarditis and regurgitation, prior complex endometrial hyperplasia without atypia, prior ischemic stroke, and prior deep venous thromboses. During her hospitalization, she was noted to have developed lower extremity skin changes with angulated retiform purpura of the upper lateral legs and worsening ulcerations with overlying scale crusts of the skin of the lower legs and thighs. Dermatology consultation was requested, and a clinical diagnosis of “favor cutaneous calciphylaxis” was rendered. A skin punch biopsy from the left leg confirmed the diagnosis of calciphylaxis with histologic sections demonstrating atrophic epidermis with early changes of necrosis with overlying parakeratosis and serum crust. Numerous intravascular thrombi with associated extravasated erythrocytes and areas of ischemic necrosis were noted, and calcifications were confirmed both intrinsic to the walls of small blood vessels and within necrotic connective tissue ().\nA right breast mass with induration, erythema, mild pain, and a discolored area of skin encompassing the nipple-areola complex was also discovered on physical examination (). No associated axillary or supraclavicular lymphadenopathy was identified at physical examination. A breast imaging consultation was requested. Color flow and real-time ultrasound examination of the right breast was performed, revealing a 6.8 × 4.8 × 2.1 cm lesion at 10 o'clock posterior depth, 4 cm from the nipple (). This lesion was hypoechoic, showed no intrinsic vascularity, and was associated with the surrounding edema. The ultrasound findings correlated with the area of the patient's pain and cutaneous changes. The lesion was ultrasonographically labeled as a suspicious abnormality, BI-RADS 4, with a differential diagnosis of phlegmon (solid mass of inflamed connective tissue) versus malignancy versus calciphylaxis, and a surgical consultation was recommended. Surgical consultation resulted in a differential diagnosis of mammary calciphylaxis versus abscess versus malignancy. Because malignancy could not be entirely excluded, an ultrasound-guided core biopsy was performed. The breast core biopsy specimen consisted of two cylindrical portions of rubbery, tan tissue measuring 3.1 × 0.4 × 0.2 cm in aggregate. On histologic examination, a few millimeters of viable, nonneoplastic breast parenchyma with ducts, adipose tissue, and fibrous tissue could be identified at one tip of each core. The remainder of the core biopsy tissue (approximately 90% of the specimen) consisted of expanses of necrosis with no identifiable intrinsic epithelial structures, extravasated erythrocytes, and a few scattered neutrophils ().\nNo in situ epithelial proliferation or invasive carcinoma was histologically identified in the cores. With the differential diagnosis of ischemic necrosis versus tumor necrosis, ancillary immunohistochemical testing was performed. A cytokeratin 7 study highlighted a rare ghosted terminal ductal lobular unit (TDLU) within an expanse of necrosis and showed no evidence of sheet-like infiltrating neoplastic cells (). Similarly, a CD31 study highlighted residual ghosted capillary-sized vascular channels (). While frank calcific changes could not be identified in the breast cores by either hematoxylin and eosin stain or Von Kossa stain, the histologic pattern of extensive ischemic necrosis was felt compatible with the clinical setting of systemic calciphylaxis involving the substance of the right breast, and the immunohistochemical studies helped to further exclude an entirely necrotic malignancy. X-ray mammography of the breasts was not conducted at the time of the work-up of the necrotic breast mass, as the patient was debilitated/not able to stand. If mammography had been performed, a diffuse pattern of small vessel calcifications might have been of value in further supporting the diagnosis of calciphylaxis. Of note, a thoracic computed tomography study had been recently previously performed (for other reasons), and vascular calcifications were in retrospect noted within the substance of the right breast, additionally supporting the diagnosis of mammary calciphylaxis ().\nThe combined imaging, surgical consultation, core biopsy, and pathological work-up in this patient allowed for exclusion of the differential diagnosis of malignancy, and the patient was spared an unnecessary oncologic resection. The patient's calciphylaxis was treated with sodium thiosulfate. The patient died seven months after evaluation of her breast disease. Her cause of death was multifactorial including multiorgan decline associated with multiple comorbidities including renal failure and systemic calciphylaxis. Exclusion of the differential diagnosis of a large invasive breast carcinoma allowed her clinical team to avoid an unnecessary major surgery and any associated potential adverse effects on length and quality of life. |
A 43-year-old female with a past medical history of severe allergy-induced asthma and chronic nasal drip presented to the clinic with worsening cough and chest tightness for 10 days and was treated for bronchitis with steroids and antibiotics. She then presented to the emergency department with severe and acutely worsening shortness of breath, sudden onset pleuritic chest pain, and sharp radiating pain between both shoulder blades with deep inspiration. At time of presentation, the patient was afebrile with vital signs within the normal limits. Lab work was insignificant with negative leukocyte count and negative cardiac enzymes. A chest X-ray demonstrated an abnormal right cardiomediastinal silhouette with large opacity over the right mediastinum adjacent to the right atrial border. A follow-up CT scan revealed a large right-sided mass adjacent to the right atrium and extending into the right chest measuring 5.1 cm × 9 cm × 4.3 cm (). Her last imaging study was a fluoroscopy study 10 years ago that showed no indications for a mediastinal mass. An echocardiogram revealed a normal ejection fraction (55–59%), no wall motion abnormalities, and a cyst near the right atrium. The patient had continued pleuritic chest pain and difficulty breathing and the decision was made to perform video-assisted thoracoscopic surgery (VATS) for pericardial cyst removal. The patient underwent general anesthesia with a 37 French left-sided double-lumen tube. Standard ASA monitors were applied. Two large-bore peripheral IVs and an arterial line were placed for continuous blood pressure monitoring. Intraoperatively, a large cystic lesion was adherent to the pericardium (). There was no solid component and no obvious communication with the pericardium. Part of the cyst wall was left on the phrenic nerve to preserve it. The patient tolerated the procedure well, had no postoperative complications, and was discharged home on postoperative day number two. The final pathology report revealed benign, acute inflammatory pericardial cyst. |
45-year-old male initially consulted because of sinusitis with multiple palpable thyroid nodules on examination. He had no hypothyroid or hyperthyroid symptoms or significant radiation exposure to the neck. The family has no history of thyroidal illness but a close relative has colonic cancer. Baseline ultrasound revealed normal thyroid glands with multiple nodules: On the right thyroid was a small 0.58 cm ovoid solid mass (); and a big 3.08 x 2.82 x 2.11 cm ovoid cystic mass (); while on the left thyroid there was a small 0.21 cm ovoid cyst (). Thyroid function tests were normal, and patient was started on levothyroxine suppression therapy.\nOn follow up, the cystic mass decreased in size until 19 months when the ovoid cyst seen on the right thyroid increased in size by about 2% and now appeared as a welldefined cyst with no vascularity or calcifications. At this time, fine needle aspiration biopsy was done revealing blood and colloid. He underwent right thyroidectomy and the specimens were sent for both frozen and permanent sections. Grossly, the specimen on cut sections showed a cystic cavity measuring 3.2 cm in diameter and at the upper pole, a note or a reddish-brown nodule measuring 0.5 cm in greatest dimension.\nMicroscopically, the reddish nodule is composed of randomly oriented papillae with fibrovascular cores (). On higher magnification, the nodule showed papillae lined by cuboidal cells showing round to oval overlapping nuclei with finely dispersed optically clear chromatin, inconspicuous nucleoli and ample cytoplasm. Furthermore, some tumor cells have prominent grooves and occasional pseudoinclusions ().\nThe cystic cavity, on the other hand, is surrounded by tissues compose of variable sized dilated follicles with flattened to hyperplastic epithelium forming papillae projections into the lumen (). The cells lining the papillary projections were noted to show occasional optical clearing () thus the pathologist requested for Hector Battifora Mesothelial-1 (HBME-1). The HBME-1 immunostain showed a diffuse membranous staining of the tumor cells ().\nThe patient underwent completion thyroidectomy, and the histopathology results of the left thyroid showed nodular goiter with interstitial fibrosis. Four weeks post operation, the patient received high dose radioactive iodine therapy. Whole body scan taken 1 week after radiation therapy revealed no evidence of radioavid foci aside from the thyroid bed and patient was categorized as Stage 2 (T2N0M0). |
A 14-year-old boy with CF (CFTR genotype Phe508del/Phe508del) was referred for lung transplant assessment. He was diagnosed with CF as a 3 month old infant having presented with recurrent pneumonia and malabsorption. His forced expiratory volume in 1 s (FEV1) was 0.8 L (39% predicted) and there was a severe problem with collapse and consolidation of his entire right lung (Fig. ). He completed 395 m with lowest oxygen saturations of 92% during a 6 min walk test in room air. His lung function had progressively reduced over the previous 4 years with chronic collapse of the right lung evident on chest radiographs for the last 2 years. He was experiencing significant morbidity in association with these problems including a continuous requirement for intravenous antibiotics over the preceding 12 months, limited exercise tolerance necessitating home tuition and overall poor quality of life. As a consequence his left lung was hyper-expanded but notably had only mild bronchiectasis on a recent high-resolution computed tomography scan (Fig. ). Pan-resistant Pseudomonas aeruginosa and Stenotrophomonas maltophilia were commonly isolated from his sputum along with Aspergillus terreus. Non-tuberculous mycobacteria nor Mycobacterium tuberculosis had ever been cultured from respiratory samples.\nThe boy also had substantial gastrointestinal and nutritional problems. He had undergone a Nissen’s fundoplication around a year previously at his home centre to try and improve problems with gastro-oesophageal reflux. However he had continued to experience distressing symptoms of nausea, retching and vomiting, particularly in association with gastrostomy feeds, that limited his nutritional intake post-fundoplication. At referral his weight at 26.6 kg and height at 1.39 m, were both significantly below the 0.4th centiles for his age.\nAn inpatient assessment was arranged in our centre during which a trial of stopping intravenous antibiotics led to rapid signs of sepsis. His debilitating gastrointestinal problems were also clearly evident and he was also reviewed by a Consultant Paediatric Gastroenterologist. His abdominal symptoms were felt to be suggestive of gastroparesis or delayed gastric emptying and visceral hypersensitivity. He was started on gabapentin for visceral hypersensitivity and plans were made for a further admission for a trial of jejunal feeding using an amino acid feed to further manage symptoms and improve nutritional status.\nIn parallel careful multidisciplinary discussions were held and although relatively high risk it was felt that a right pneumonectomy could be a beneficial intervention to remove a chronic sump of infection and improve his current status as a strategy to delay the need for active listing for lung transplantation. It was confirmed that implantation of a single donor lung, rather than bilateral lung transplantation, was the only viable option at any stage in his case due to chronic remodelling that had occurred of the right hemithorax with markedly reduced volume compared to the left. This was discussed fully with the patient and his family and a plan was agreed to improve his nutrition as far as possible prior to performing a pneumonectomy.\nHe was subsequently re-admitted and a jejunal extension was added to his gastrostomy and a flexible bronchosocopy performed. The bronchoscopy revealed normal left-sided bronchial anatomy and on the right a tracheal bronchus with mucoid plugs obstructing all major bronchi. Bronchoalveolar lavage fluid grew S. maltophilia, A. Terreus and Staphylococcus aureus. Continuous jejunal feeding (Elemental E208, Nutricia) was introduced and led to a rapid gastrointestinal symptomatic improvement with much less retching and vomiting.\nFollowing three weeks of jejunal feeding, during which time he gained 2.4 kg, the pneumonectomy was performed. The operation was surgically uneventful, he was extubated within 24 h and was discharged from intensive care to the ward on the first post-operative day. Amikacin, piperacillin/tazobactam, moxifloxacin and posaconazole were used to provide targeted antimicrobial cover. His subsequent course was smooth with rapid improvement in chest symptoms and successful withdrawal of intravenous antibiotics. His gastrointestinal symptoms also continued to improve and he gained a further 1 kg prior to discharge home three weeks later.\nIn the 2 years following surgery he has been followed up by his local centre. There has been a dramatic improvement in quality of life, evidenced by good school attendance, physical activity and that he has only required admission to hospital for one course of intravenous antibiotics. Importantly his lung function has increased substantially to around 65–70% predicted FEV1 and he has gained a further 5 kg in weight with now both height and weight following the same centile. Figure shows a chest radiograph around 6 months post-pneumonectomy. |
A 75-year-old African American female with stage 4 chronic kidney disease presented with a 3-day history of atypical chest pain and dyspnea. She had a long standing history of hypertension. At presentation, she was hypertensive with blood pressure of 180/100 mm Hg. The electrocardiogram ordered showed sinus rhythm (heart rate: 85 beats/min), ST depression, and deep T wave abnormality (). Initial troponin I level was 1.5 ng/mL, and she was diagnosed with non-ST segment elevation myocardial infarction. She was started on aspirin, clopidogrel, heparin, and beta-blockers and underwent coronary angiography. The angiogram showed nonobstructive mild coronary artery disease.\nLeft ventriculogram was done and showed a hyperdynamic midportion of the ventricle with a large aneurysmal dyskinetic sac with stasis of contrast (Figures and ). Given her acute coronary syndrome-like presentation, it was suspected that she had possible Takotsubo cardiomyopathy (apical ballooning) and was admitted for further evaluation.\nShe underwent transthoracic echocardiogram the next day, and the noncontrast image shown in displayed moderate left ventricular hypertrophy including asymmetric septal hypertrophy but poor visualization of the apex and no definite dyskinetic cavity as shown on the left ventricular angiogram. However, to define the apex better, echocardiographic contrast was utilized and the contrast images clearly demonstrated midventricular narrowing, a hyperdynamic zone, and apical aneurysmal zone similar to coronary angiogram (). There was flow acceleration demonstrable with paradoxic Doppler flow between the mid cavity narrowing and the apical aneurysmal zone ().\nBased on the constellation of findings, she was diagnosed with midventricular HCM with apical aneurysm formation. She underwent cardiac magnetic resonance imaging (MRI) with gadolinium contrast that confirmed the diagnosis and further illustrated concomitant outflow tract obstruction and significant septal hypertrophy with moderate to severe secondary mitral regurgitation (Figures and ). During her hospital course, she had multiple bouts of nonsustained ventricular tachycardia. She subsequently underwent implantable cardioverter defibrillator placement and was initiated on warfarin for stroke prevention. |
A 19-year-old Caucasian female presented to us with bilateral lower limb ulcers. She reported a scratch on her left ankle 3 months earlier that worsened over time into an ulcer, in spite of antibiotic treatment. A week later, new lesions appeared on the left leg and similar ones were seen on her right leg. The patient denied fever, weight loss, or other signs or symptoms of systemic illness. Four years earlier she had been admitted at another hospital with transaminasemia and jaundice and was diagnosed with autoimmune hepatitis based on serological (ANA and ASMA) positivity and compatible histopathological features, in the absence of viral markers. Treatment with prednisolone and azathioprine brought the disease into remission. The patient was on 5 mg prednisolone upon presentation.\nOn admission, the patient was afebrile, bearing purulent, painful ulcers in both legs (Fig. ). Lab results showed the inflammation markers just exceeding the upper normal limits (Table ). Transaminases were within a normal range, while anti-nuclear antibodies (ANA) were positive at a titer of 1/320 and anti-smooth muscle antibodies (ASMA) were positive at a low titer (1/80). Cryoglobulin test was negative. The lesions were cultured for bacteria and Mycobacterium tuberculosis, and empiric therapy was started with clindamycin and moxifloxacin. Magnetic Resonance Imaging (MRI) of the region of ulcers in both legs revealed diffuse subcutaneous oedema and subcutaneous nodular lesions on the dorsal surface of the feet. With a working diagnosis of pyoderma gangrenosum, a skin biopsy was acquired, her previous medication of azathioprine was reintroduced at 150 mg, while the steroids were increased from 5 to 20 mg prednisolone, daily. The patient was discharged pending the pathology and bacteriology results.\nShe returned a week later with arthritis of both ankles and worsening of the ulcers (Fig. ). Further cultures were again negative. The biopsy was interpreted as being compatible with pyoderma gangrenosum (Fig. , ), hence prednisolone 1 mg/kg was started, azathioprine was switched to cyclosporine at 150 mg that was further increased to 250 mg daily, and methotrexate 10 mg/week was added to the regimen. Given the rare combination of pyoderma gangrenosum with autoimmune hepatitis, upper and lower endoscopies, as well as upper abdominal MRI and Magnetic Resonance Cholangio-pancreatography (MRCP) were done to exclude more common associated diseases. All of the investigations were negative. A review of the initial liver biopsies confirmed the diagnosis of autoimmune hepatitis, showing dense portal and periportal lymphocytic and plasmacytic infiltrates, as well as mild periportal fibrosis. The patient was again discharged, with slow tapering of the steroids.\nOn follow up a month later she was feeling well, with no ankle swelling, and with all ulcers healing satisfactorily (Fig. ). Six months hence she was on 4 mg methylprednisolone, 100 mg cyclosporine, and 7.5 mg methotrexate, with normal liver enzymes, and with the ulcers nearly healed (Fig. ). Cyclosporine was discontinued at 8 months, and a year later the patients was on 4 mg methylprednisolone and 7.5 mg methotrexate, with further improvement and complete healing of the ulcers (Fig. ).\nAutoimmune hepatitis is a chronic self-perpetuating inflammatory disease occurring in all ages and races []. Besides its diverse presentation and heterogeneity of the clinical features, AIH is characterized biochemically by elevated transaminases, histologically by interface hepatitis, and serologically by increased levels of immunoglobulin G (IgG) and autoantibodies, in the absence of viral markers []. Based on the autoantibody profile, two types of AIH are recognized: type 1 (AIH-1), positive for ANA and/or anti-smooth muscle antibody (SMA), and occurring at any age, and type 2 (AIH-2), positive for anti-liver-kidney microsomal antibody (anti-LKM) or for anti-liver cytosol type-1 antibody (anti-LC-1), with a peak incidence in children and adolescents [–]. AIH generally responds to immunosuppressive treatment, but if left untreated usually progresses to liver failure requiring transplantation [].\nExtra-hepatic disorders, mainly autoimmune conditions, are common in autoimmune hepatitis and occur in all stages of liver disease, including ulcerative colitis, Crohn’s disease, vasculitis, arthritis, thyroiditis, diabetes mellitus, autoimmune hemolytic anemia, glomerulonephritis, fibrosing alveolitis, systemic lupus erythematosus, coeliac disease, sicca syndrome, vitiligo, or lymphoproliferative syndromes [, ].\nOn the other hand, PG is associated with a variety of mainly autoimmune diseases in 50–70 % of cases, with inflammatory bowel disease (IBD) topping the list at 10–15 % []. However, there is a dearth of data on the association of PG with AIH, as a search of the English-language literature unearthed only fifteen other cases [].\nOur patient had AIH-1, as the majority of reported cases when the type of AIH was identified, although AIH-2 may be underestimated []. Our patient’s gender, the age at diagnosis of AIH, and the interval to the subsequent onset of PG concur with those of the other reported cases, as does the development of PG during a quiescent stage of the AIH. Our patient remained in remission subsequently, even with the use of potentially hepatotoxic agents. Although a fulminant presentation of AIH has been proposed as a possible risk factor for the subsequent development of PG [], our patient’s hepatitis course was not severe, emphasizing our poor understanding of the pathogenesis of PG in relation to AIH. Finally, pathergy, although rare [], is a hallmark of PG, and our patient’s first appearance of an ulcer was at a previously “scratched” area, raising the distinct possibility of such event. |
A 43-year-old, right-handed woman presented with complaints of pain and discomfort in her right shoulder. She had no history of previous injury or minor problems with her shoulder. The symptoms had begun after labor related to institutional food service for 1½ years. She had occasionally experienced a catching sensation and aggravated pain in the shoulder with labor activity. Symptoms were not alleviated by rest or non-steroidal anti-inflammatory drugs. Physical examination revealed positive findings for Neer's sign and Hawkins impingement test, Speed test and O’Brien's test. Patient's rotator cuff muscle strength was normal and no musculature atrophy was observed. The active range of motion (ROM) of the shoulder joint was mildly restricted during flexion, abduction and internal rotation, but passive ROM showed full range. The laboratory investigations including erythrocyte sedimentation rate and serology showed no significant results. Plain radiograph of shoulder demonstrated multiple rounds and ring like calcifications at the right glenohumeral joint with entheophyte at greater tuberosity of right humeral head []. Magnetic resonance imaging (MRI) of the shoulder showed a fluid-filled paralabral ganglion cyst that originated at the posterior superior labrum, forming a large cystic mass located at suprascapular and spinolgenoid notch around the spine of scapula [Figure and ]. The cyst originated at a tear of the superior labrum and extended to the posterior aspect of biceps long head origin [Figure and ]. The axial MRI also revealed fatty mass, which showed iso-signal intensity to the subcutaneous fat on all sequences, under intermuscular space located between anterolateral cortex of the humeral head and anterior belly of the deltoid muscle []. Another encapsulated mass was found in intermuscular space between infraspinatus and the deltoid muscle []. Abundant villous projection on the medial portion of the mass was located with multiple rings like or round low intensities on all pulse sequences. It showed background low signal intensity on T1-weighted image and high signal intensity on T2-weighted image, representing calcification arising from chondroid matrix [Figure and ]. Arthroscopy revealed a type II SLAP lesion with mild synovitis, but the articular cartilage of the humeral head and glenoid was intact. The detached posterior-superior labrum was fixed with sutures by insertion of two metal anchors. Patient subsequently underwent a separate incision laterally around the acromion and medially along the lateral one-third of the spine of the scapula. The origin of the deltoid was detached from the acromion and from the exposed part of the spine of the scapula. We retrieved LA and lipoma respectively. Lipoma size was 1.8 cm × 2.2 cm × 1.7 cm. LA size was 7.1 cm × 2.8 cm × 2.6 cm in the form of encapsulated mass. Opening the capsule revealed villous projection of fatty synovial tissue associated with central large whitish cartilaginous nodules attached to villous synovium []. Histologic examination demonstrated that diffuse papillary proliferation of the synovium with near total replacement of subsynovial tissue into mature fat tissue. Extensive area of osteochondral metaplasia in villous fat tissue was also seen [Figures and ].\nPost-operatively, the arm was placed at the side in a sling for 3 weeks. Passive motion including external rotation of the shoulder and ROM of the elbow were started immediately. This was followed by a home-based rehabilitation program of progressive ROM. Strengthening exercises for the rotator cuff, scapular stabilizers and deltoid were started 6 weeks post-operatively. She achieved full recovery in her affected shoulder within 3 months of surgery. At 2-month follow-up, the ultrasonogram demonstrated complete removal of LA, lipoma and cyst. She was asymptomatic and showed no recurrence of calcification on plain radiographs at a final follow-up 3 years after surgery. |
A 74-year-old male patient was referred to our hospital for the treatment of a right atrial tumor. He had experienced the sudden onset of dyspnea and had gone to another hospital. There, transthoracic echocardiography revealed the right atrial tumor. After his transfer to our hospital, transthoracic echocardiography was performed again. The right atrial tumor, which adhered to the interatrial septum, had a tail-like surface projection. The tumor projection was mobile and prolapsed into the right ventricle during diastole (Fig. ). In addition, the right cardiac cavities were dilated and the estimated right ventricle pressure was 63 mmHg, which suggested the presence of moderate pulmonary hypertension. Subsequently, computed tomography (CT) showed that the left pulmonary artery was occluded by a large embolus (Fig. ). Because the embolus formed acute angles with the vessel wall, acute pulmonary embolism was highly suspected. We performed an emergency surgery for the removal of both the right atrial tumor and the embolus in the left pulmonary artery.\nIn the supine position, a median sternotomy was made. Cardiopulmonary bypass was established by ascending aortic and bicaval cannulation without inducing hypothermic circulatory arrest. When the right atrium was opened, we observed a gelatinous and irregular shaped tumor with a multipapillary surface (Fig. ). Because the tumor was fragile and its attachment could not be confirmed as it was, the majority of the tumor was crushed and the remaining part, which adhered to the fossa ovalis, was resected with the interatrial septum. The defect of the interatrial septum was closed by an autologous pericardial patch. Finally, the main pulmonary artery was opened and the embolus, which was wedged into the left pulmonary artery, was removed (Fig. ). Histopathological examination showed that both the right atrial tumor and the pulmonary embolus were myxoma. Postoperative course was uneventful and recurrence of the tumor was not observed at 2 years postoperatively. |
We report the case of a 49-year-old man, with unremarkable past medical and family history but with an 80 pack-years of smoking. He was admitted in the Surgery Department in June 2020 for an acute intestinal obstruction revealed by an abdominal pain with vomiting. An abdominal computed tomography scan (CT scan) was performed in emergency and concluded to an intussusception upstream of a well-limited tumor with no sign of intestinal distress.\nThe patient was operated in emergency. The intraoperative findings showed a jejunojejunal intussusception located 1 meter from the duodenojejunal angle related to a well-limited 3 cm tumor. A resection of 10 cm of the intestine including the mass was performed with an end-to-end anastomosis. Pathologic examination revealed a pT2 undifferentiated carcinoma with a sarcomatoid component involving all layers of the jejunum and expressing only cytokeratin 7. Cytokeratin 20, CD34, thyroid transcription factor-1, CD117 (c-kit,) and HMB45 were all negative ().\nA subsequent thoracic CT scan was performed to complete the extension report, which showed a polylobed mass extending to the three lobes of the right lung measuring 6 cm, with right interbronchial lymph nodes (). No further evident metastases were revealed. A fibroscopy showed an inflammatory intersegmental spur of the right lobe; biopsy was negative. Transparietal biopsy was difficult to perform. The patient was operated; intraoperatively, there was a large extension of the mass of the right lung in the fissure making arterial dissection at this level impossible so a lobectomy could not be performed. The patient had a pneumonectomy with lymph node dissection. Postoperative recovery was eventful in the patient.\nHistological examination revealed a combined lung tumor appearance with a predominant component (80%) consisting of a small cell neuroendocrine carcinoma associated with a solid adenocarcinomatous component, with massive infiltration of the lung, rupture of the visceral pleura, and extension to parietal fat tissue but with free surgical margin at this level and without sarcomatoid component. Vascular invasion and spread through air spaces were also noted ().\nLymph dissection revealed one involved lymph node among the 23 examined. Immunohistochemistry showed a positivity of the small cell component for CD56 and chromogranin.\nAfter review of the 2 tumors, the pathologist concluded to a jejunal metastasis of a pulmonary combined small cell carcinoma and adenocarcinoma.\nThe patient was diagnosed with combined lung cancer stage IV, and the decision was to perform postoperative chemotherapy with cisplatin 30 mg/m2 per day (D) at days 1, 2, and 3 associated with etoposide 80 mg/m2 per day at D1, D2, and D3 and Navelbine 30 mg/m2 per D at D1 every 21 days + granulocyte colony-stimulating factor (G-CSF) [D1 = D21]. The patient achieved 4 courses of chemotherapy with good tolerability and is currently in remission. |
A 14-year-old boy visited the ear, nose, and throat (ENT) outpatient department of our center, with a history of left-sided nasal obstruction gradually progressive over a period of 1 year, with recurrent history of associated rhinorrhea. There was no history of epistaxis or any other ENT complaints, and the patient’s past medical history and family history were insignificant.\nOn anterior rhinoscopy, a single polypoidal mass was seen filling the left nasal cavity extending up to the vestibule. The mass was firm in consistency, insensitive to touch and pain, and did not bleed upon touch. General and systemic examinations and an examination of the rest of the ENT were all within normal limits. A contrast-enhanced computed tomography (CT) scan showed a homogenous soft tissue lesion measuring 44×68×12 mm in the left nasal cavity, extending posteriorly into the nasopharynx ().\nThe mass extended superiorly into the left ethmoid air cells up to the cribriform plate with its thinning and breach. The rest of the sinuses was clear. On contrast study, there was heterogeneous enhancement. Based on the CT findings of the anterior skull base breach, gadolinium-enhanced magnetic resonance imaging (MRI) was performed to rule out intracranial extension, and revealed small sub-centimeter focus posteriorly without any significant intracranial extension ().\nRigid endoscopy was carried out and the mass was seen attached to the anterior part of the nasal septum. A punch biopsy was taken, which presented as an inflammatory polyp.\nThe patient was referred for standard endoscopic sinus surgery under general anesthetic after providing informed consent. The mass was removed endoscopically, and was seen to be extending intracranially but extradurally. Complete resection of the tumor was achieved and while managing the tumor in the region of the cribriform plate, there was an obvious CSF leak. The site of leakage was identified and closed using an underlay technique with septal cartilage, fascia lata, and tissue glue. The intra-operative blood loss was minimal.The post-operative recovery period was uneventful. Histopathology of the excised specimen showed the tumor mass lined by pseudostratified columnar epithelium with squamous metaplasia. The subepithelial tissue was composed of loose myxoid areas with mature adipose tissues and foci of cartilage. Foci of neuroepithelial cells occupying more than four low-power fields were seen. Grade 3 immature teratoma was given as final diagnosis (-).\nAdjuvant chemotherapy was started based on the histological grading, with four cycles of bleomycin, etoposide, and cisplatin. A regular follow-up for a period of 2 years showed no signs of recurrence. |
A 32 year old female Cameroonian gravida 4 para 3 at 34 weeks of gestation presented to the labour and delivery unit of Mbalmayo district hospital with 8 h history of severe generalized headache, expressive aphasia and right sided paralysis in an afebrile context. This was associated with blurred vision but no convulsions. There was no epigastric pain and no difficulty breathing and no history of trauma or fall. For this current pregnancy, antenatal care (ANC) was started at 18 weeks with a booking blood pressure of 100/70 mmHg. She did four ANCs and all were uneventful. During her routine four ANCs here blood pressure was always less than 140/90 mmHg and her urine dipsticks done during the four ANCs were all negative for proteinuria. She refused neurological symptoms such as headache during pregnancy. She has a history of gestational hypertension in her third pregnancy. There was no family history of chronic hypertension, diabetes and chronic kidney diseases. On examination she was afebrile with a blood pressure of 182/126 mmHg and pulse of 112beats/minute. Neurological examination revealed Glasgow coma score of 13/15, right sided hemiparesis and expressive Broca’s aphasia, no signs of meningeal irritation. The abdomen was distended by a gravid uterus with a fundal height of 35 cm, foetus in a longitudinal lie and cephalic presentation. The cervix was long, posterior, soft and closed with a station of − 1. We had a working diagnosis of severe pre-eclampsia complicated by stroke. Shown on Table are laboratory investigations done and their results.\nAn emergency obstetric ultrasound showed a life foetus with an estimated foetal weight of 2300 g at 33 weeks of gestation. Emergency cerebral non contrast-CT scan showed a 3.2 cm hyperdense region in the left parietal lobe with surrounding hypodensity due to clot retraction as shown on Fig. . Emergency management by the obstetrician consisted of MgSO4 using the Pritchard protocol [], which consisted of 14 g loading dose then 5 g maintenance every 6 h until 24 h after caeserean section; bethamethasone 12 mg intramuscular and reduction of blood pressure with nicardipine 5 mg/h. Four hours later an emergency caesarean section was done by the obstetrician under spinal anaesthesia and it let to the extraction of a life female with APGAR 8 and 10 at the 1st and 5th minute respectively and weight 2200 g. The management after caesarean section consisted of hospitalization in the intensive care unit with nicardipine titrated in an electric syringe at 2.5 mg/hour, ceftriaxone 2 g intravenous, Paractamol 1 g 8 hourly, and ringers lactate 6 hourly for 24 h. Post-operative management was done by a multidisciplinary team including a neurologist, cardiologist, intensive care physician, obstetrician, neonatologist and physiotherapist. On postoperative day 2 she was transferred from the intensive care unit to the maternity where she spends five additional days on nicardipine slow release 50 mg 12 hourly and paracetamol 1 g 8hourly and was later release after the ten days on nicardipine 50 mg daily and daily physiotherapy. Six weeks during routine postpartum visit the blood pressure was normal and patient was no longer aphasic and shet has regained the muscle strength partially. The baby was hospitalised in the neonatal unit for 10 days and discharged alongside the mother. |
A 24-year-old female patient with a VP shunt who was admitted to our rehabilitation hospital was referred for distal catheter externalization. The patient was diagnosed with traumatic subarachnoid hemorrhage and subdural hemorrhage at another hospital. She underwent bilateral craniectomy, cranioplasty, and VPS. The patient was bed ridden (E4M4Vt on the Glasgow Coma Scale) and was admitted to our rehabilitation hospital for PEG (Percutaneous Endoscopic Gastrostomy) tube change. The patient had high fever, vomiting, and abdominal tenderness after the PEG tube change. Peritonitis was diagnosed, caused by extensive contamination of the peritoneum due to leakage through the PEG tube. Surgery for peritonitis was carried out and for this purpose, shunt externalization was performed at the clavicle level.\nPeritonitis was resolved after approximately eight weeks of antibiotic use, but the general surgeon expressed concerns about placing the distal catheter in the peritoneum due to adhesion of peritoneum and inflammation. After discussion, we decided to place the distal catheter into the pleural cavity. The patient underwent a ventriculopleural shunt operation in consultation with the thoracic surgeon and had no specific problems for 3 months. Eventually, pleural effusion was observed caused by the development of pneumonia. Pneumonia and pleural effusion were treated with antibiotics and PCD (Percutaneous Catheter Drainage), but effusion and pneumonia reoccurred after PCD removal. In this patient, the pleura was not appropriate for placement of the distal catheter, and the atrium was finally determined to be a suitable location. In consultation with a vascular general surgeon, surgery was performed in a hybrid operating room.\nThe surgery used the existing proximal catheter and valve (Codman Hakim programmable valve; Codman/Johnson & Johnson, Raynham, MA, USA). Only the distal catheter was replaced. Under ultrasound guidance, the path of the right jugular vein was drawn. In the path of the jugular, a small incision was made about 2 cm above the right clavicle, and the shunt catheter was tunneled into the incision. The jugular vein puncture was performed beside the tunneled catheter with an 18-gauge Seldinger needle under ultrasound guidance. A 0.035-in flexible guide wire was introduced into the vein and the needle was withdrawn over the wire. 6-Fr peel-away sheath was advanced into the vein along the wire. Under fluoroscopic guidance, the catheter was cut to a length of 14 cm so that it could be positioned approximately at the atrium mid-level. The dilator and guide wire were removed, the shunt distal catheter was passed down the sheath, cut to a length of 10 cm, and placed back into the sheath. After confirming that the catheter was properly positioned by fluoroscopy, the peel-away sheath was removed.\nAfter successful surgery, considering the bed ridden state of the patient, rivaroxaban 10 mg was used to prevent thromboembolic events. The patient was followed-up for two years after VAS placement without significant problems. |
An 83-year-old woman presented with a growing solid right frontal scalp lesion over the past month that had not been present two months prior. Her past medical history was significant for diagnosis of a right frontal anaplastic astrocytoma, resected 18 years earlier, followed by adjuvant temozolomide and external radiation therapy (60 Gy in 30 fractions). She also underwent complete resection of stage IA lung adenocarcinoma four years prior. On examination, she was neurologically intact and cognitively at her baseline of mild dementia.\nMagnetic resonance imaging (MRI) of her brain demonstrated a bilobed homogeneously enhancing right frontal scalp, measuring up to 4.5 cm, with 2.8 cm of intracranial extension (). There were also expected encephalomalacic changes of the right frontal lobe with ex vacuo dilation of the frontal horn of the right lateral ventricle from prior astrocytoma resection. The differential diagnosis was felt to include a primary skin or soft tissue neoplasm, systemic metastasis, meningioma, or recurrence of a high-grade glioma with extracranial invasion. After consultation with neuro-oncology, surgical intervention was recommended to pursue a tissue-based diagnosis.\nThe tumor was gross totally resected via a right frontal craniectomy with mesh cranioplasty to replace the bony defect, followed by complex scalp closure that involved rotation of a vascularized forehead flap and inset of a harvested split-thickness skin graft from the thigh. Pathologic review of the specimen revealed a densely cellular spindle cell malignancy composed of highly pleomorphic cells in a partly fascicular or storiform pattern with areas of necrosis (Figures and ). The Ki-67 index was >75% (), and p53 nuclear expression was observed in >90% of cells (). Further immunohistochemical stains for vimentin were strongly positive, while those for S100, GFAP, EMA, and panCK were negative. Together these findings were suggestive of a high-grade pleomorphic sarcoma, French Federation of Cancer Centers Sarcoma Group (FNCLCC) grade 3. The patient recovered from surgery uneventfully. Her family declined further treatment, given her baseline poor performance status and age.\nA targeted cancer gene panel (Oncomine Comprehensive Assay v3, Thermo Fisher Scientific, Waltham, MA, USA) was performed on the surgical specimen and peripheral blood, the latter serving as a normal, germline control specimen. This assay examines tumor DNA for mutations and/or amplifications in 146 cancer-related genes, as well as tumor RNA for the presence of gene fusion transcripts involving 44 oncogenic driver genes. This assay revealed somatic variants within the tumor, predicted to be deleterious based on SIFT [] and PolyPhen [] prediction algorithms, of KIT (V603D) and TP53 (Y220C), as well as 7 copy number amplifications of PDGFRA and KIT ().\nThese results were cross-referenced with The Cancer Genome Atlas (TCGA) sarcoma cohort [], comprising 206 samples, including 44 cases of UPS. There were four total KIT variants predicted to be deleterious in this database in three patients, comprising two cases of leiomyosarcomas (patient 1: R804Q; patient 2: W557Gfs∗18, Q556Rfs∗8) and one malignant peripheral nerve sheath tumor (C906R). The KIT V603D mutation observed in our patient was located in the protein tyrosine kinase domain and plotted alongside data from the TCGA database with MutationMapper [, ] (). TP53 mutations were reported in 69 (33.5%) patients in the TCGA sarcoma database, including 18 (26.1%) cases of UPS. Regarding copy number alterations, the TCGA database reported three cases of sarcomas with copy number amplifications in KIT, comprising two UPS and one myxofibrosarcoma. Notably, these three comprised the majority of the four total cases in the database that harbored PDGFRA copy number amplification with the remaining case also being UPS. |
A 41-year-old male was admitted to the co-occurring inpatient unit at the Sheppard Pratt Health System, Baltimore, Maryland, USA in April 2013. The presenting problem was two suicide attempts that he states were due to command auditory hallucinations from the devil. The family found the patient as he was attempting to strangle himself with a sheet. He again attempted to commit suicide while in the emergency department by trying to suffocate himself with a pillow. He reported delusions of being sent from God for a mission, stating, ‘I am feeling God's presence, I’m trying to save the world, I believe that it is my time to die.’ He also had auditory hallucinations stating that ‘God and the devil speak to me and tell me I need to leave the Earth.’ There were no obvious mood symptoms at the time of presentation. He was on no psychiatric medications at the time of admission and did not have an outpatient psychiatrist. His wife stated that his symptoms had been worsening over the previous few weeks and his hallucinations appeared to occur more frequently at night. She stated that during the day he made bizarre and hyper-religious statements. He was drinking alcohol, consuming six to eight beers per night, four times per week.\nHis highest level of education is a high school diploma. He is employed full time with the public works department. He currently lives with his wife and children.\nThe patient had one previous psychiatric admission in 2009 prior to this presentation. At that time, he presented with predominantly manic symptoms with psychosis; he was started on valproic acid and quetiapine at that time, which was discontinued after a few months by the patient due to poor insight. The patient was diagnosed with bipolar disorder I with psychotic features at that time. There is no family history of psychiatric disorders.\nA medical work up was completed and he was found to have elevated LDL and total Cholesterol with low HDL. Thyroid-stimulating hormone (TSH) was found to be high but T3 and T4 were within normal limits. He also had an elevated Alanine transaminase (ALT). Rapid plasma reagin (RPR) was negative and glucose, electrolytes, blood urea nitrogen, and creatinine were all within the normal limits. A medicine consult was done for hyperlipidemia and hypertension for which he was started on simvastatin 20 mg daily and lisinopril 20 mg daily. The working diagnosis for this patient was schizophrenia. Aripiprazole was started and was gradually increased to 30 mg PO daily; aripiprazole was chosen due to the patient's obesity and metabolic syndrome.\nAfter a few days, the patient became increasingly confused and disoriented; the ammonia level was ordered as well as the basic metabolic panel, both of which were within normal limits. The patient's confusion continued to worsen and the patient had a fall, he was sent to the ER for an evaluation of altered mental status and elevated blood pressure. Head CT scan was performed that showed no abnormalities. No medical cause of the altered mental status could be determined. The patient was medically cleared and returned to the inpatient unit.\nThe patient's wife told the treating psychiatrist that he was treated for lyme disease in 2006. At the time of diagnosis, the patient was treated with a 3-week course of doxycycline after which the lyme disease symptoms resolved. A lyme antibody enzyme immunoassay was ordered which returned positive for IgG and IgM band p23. A confirmatory Western blot assay for IgG and an indirect immunofluorescence assay for lyme IgM were both subsequently performed and were positive. It was determined by the internist that no antibiotic treatment was necessary now as he had been treated with a three week course of doxycycline 7 years prior and there were no signs of active Borreliaburgdorferi (Bb) infection such as rash, arthralgia, or recent tick bites.\nThe patient was getting only approximately four hours of sleep per night and was started on zolpidem 10 mg by mouth at bedtime. The patient continued to suffer from insomnia so the dose was increased from 10 to 15 mg and then finally to 20 mg.\nDuring the third week of inpatient treatment, several days after being on aripiprazole 30 mg, psychotic symptoms began to improve. His auditory hallucinations improved; however, he was still experiencing some paranoia. During this time, he began to develop manic symptoms, which included dancing for hours at a time on the inpatient ward, increased sexual arousal and inappropriate sexual statements and behavior with female staff and patients on the unit, increased energy and decreased need for sleep. With the addition of the mood symptoms, the diagnosis was changed to schizoaffective disorder, bipolar type as he had met DSM-IV-TR criteria of 2 weeks of psychotic symptoms independent of mood symptoms, which developed during the third week of hospitalization.\nThe patient was started on divalproex 500 mg by mouth at bedtime which was increased to 750 mg on day two and he was discharged on day three. Therefore, we were unable to get a divalproex level. Divalproex was chosen over other mood stabilizers because the patient and his wife reported a good response to divalproex when he had exhibited manic symptoms 4 years prior.\nOn the combination of aripiprazole 30 mg daily and divalproex 750 mg at bedtime the patient showed improvement in both psychotic symptoms and mood symptoms. At the time of discharge the patient denied any auditory hallucinations or suicidal ideation. His mood symptoms had improved, with some hypomanic symptoms still remaining. |
A 49-year-old female presented to the oncologic surgery service for right hepatectomy and wedge resection of segment 3 of the left lateral liver to remove four right hepatic lobe and one left hepatic lobe colon cancer metastases. Her past medical history was significant for sigmoid adenocarcinoma status after low anterior resection and four cycles of FOLFOX chemotherapy (leucovorin, 5-fluorouracil, and oxaliplatin) administered via a port-a-cath. Her course was complicated by development of a port-a-cath associated thrombus comprised of two parts spanning a total length of 8 cm, with extension from the left brachiocephalic vein along the SVC into the RA and RA appendage (). Secondary to the thrombus, the patient developed two episodes of SVC syndrome with facial and neck swelling as well as shortness of breath. The first episode at time of diagnosis was managed with discontinuation of her oral contraceptive pill and intravenous heparin with transition to subcutaneous enoxaparin (1.5 mg/kg once daily), a low-molecular-weight heparin (LMWH), in the outpatient setting. Initially, the port-a-cath was scheduled to be removed, but given concerns from interventional radiology in regard to reinsertion of a CVC in the presence of an extensive SVC thrombus and decrease of thrombus burden with therapeutic anticoagulation, the port-a-cath was left in place. During the second episode, which occurred about three months after initial SVC thrombus diagnosis, the patient was admitted for evaluation of possible catheter-based extraction therapies. On further review of her imaging studies and consideration of the clot appearance and time from initial discovery, the interventional cardiology service felt that, due to clot chronicity, an extraction therapy would not be feasible. The recommendation was made to continue anticoagulation and proceed with surgery after inferior vena cava filter placement. Her surgery was scheduled six months after initial discovery of the port-a-cath associated clot. The patient's anticoagulation management was based on recent guidelines published in 2012 []. LMWH was chosen over vitamin K antagonists since clinical trials have shown improved outcomes in patients with solid tumors treated with this regimen [–].\nA discussion was held with the patient regarding the risks of massive pulmonary embolism and possible therapies. The patient voiced her wish to remain full code and asked for resuscitative efforts to be carried out in the setting of a massive pulmonary embolism. On the day of surgery, a perfusionist and a cardiothoracic surgery team were on stand-by. A perfusion pump was positioned outside of the operating room to allow rapid access to cardiopulmonary bypass capabilities. Arterial access via a 20G catheter was obtained in the right radial artery prior to induction. Anesthesia was induced using a standard induction regimen of midazolam (2 mg) in the preoperative area, followed by fentanyl (100 mcg), propofol (200 mg), and rocuronium (40 mg) via a 20G peripheral intravenous (PIV) catheter in the right upper extremity. No significant lag in medication onset of effect was noted. Bag-mask ventilation was easily achieved. A cuffed 7.0 endotracheal tube was inserted using a MAC 3 blade. Anesthesia was maintained with a volatile agent (sevoflurane) and intermittent fentanyl boluses. After induction, large-bore central venous access was obtained via the right femoral vein under ultrasound guidance to provide means of vasopressor, fluid, and blood product administration. A transesophageal echocardiography (TEE) probe was inserted and images of the right heart thrombus were obtained. The probe was left in place and the thrombus position was periodically checked to confirm the absence of dislodgement. Echocardiography was also used to assess the patient's heart during any signs of hemodynamic alterations. The exam focused on presence of the thrombus, right ventricular systolic function, right ventricular cavity dilation, presence of new regional wall motion abnormalities, occurrence of new tricuspid insufficiency, and position of the ventricular septum. The surgery was carried out in the reverse Trendelenburg position and the patient's eyes and head were monitored every 20 minutes for evidence of swelling. We aimed at limiting intravenous fluids while maintaining adequate intravascular volume and tissue perfusion. Fluid management was guided by stroke-volume variation obtained from a FloTrac/VigileoTM monitor (Edwards Lifescience Corp., Irvine, CA). A consistent increase of stroke-volume variation above 12% for five minutes was used as a trigger for a 250 cc albumin 5% bolus. The surgery was uneventful and well tolerated by the patient. Procedure time from patient arrival in the operating room to transfer of the patient who is awake to the postoperative anesthesia care unit was 405 minutes. Estimated blood loss was 400 cc. A total of 750 cc of 5% albumin and 1800 cc of Lactated Ringer's solution were given. Intermittent monitoring of the RA thrombus showed no changes and the patient remained hemodynamically stable. After recovery in the postanesthesia care unit, a 20G PIV catheter was inserted in the lower extremity and both femoral CVCs were removed to reduce the risk of clot formation. The patient's enoxaparin was restarted on postoperative day #6 and she was discharged on postoperative day #7. |
The patient was a 72-year-old man with a history of coronary atherosclerosis and anterior myocardial infarction who underwent a coronary artery bypass graft in 2001. He had in total three grafts: left internal mammary artery (LIMA) to left anterior descending artery, saphenous vein to the right coronary artery, and saphenous vein to ramus intermedius. He presented to the emergency department in February of 2020 with a three-day history of left shoulder pain and a one-day history of left arm tingling. His vital signs at triage were notable for a pulse of 94 beats per minute and blood pressure of 132/94 mmHg. His ECG demonstrated a paced ventricular rhythm at a rate of 111 beats per minute (Figure ). He denied any associated chest pain or neurologic symptoms.\nHis past medical history included Hurthle cell cancer of the thyroid, which was treated with a thyroidectomy in 2015, followed by radiation to the thyroid bed, neck, and mediastinal nodes in 2017. His history also included ischemic cardiomyopathy with anterior and apical wall motion abnormalities, left ventricular ejection fraction of 20-25%, and ventricular tachycardia (VT) storm, for which a cardiac resynchronization therapy defibrillator (CRT-D) was placed for secondary prevention. Regarding his defibrillator, he previously experienced a lead fracture and lead replacement. He subsequently developed a left ventricular (LV) thrombus, found on echocardiogram 11 months before presentation, which was treated with warfarin. A repeat echocardiogram three months before presentation showed resolution of the LV thrombus. His cardiologist advised him to stop warfarin at this time. He was maintained on dofetilide for VT storm prevention.\nEleven days before presentation, he had a run of VT which was successfully terminated with one round of anti-tachycardia pacing by his CRT-D. His electrophysiology device nurse subsequently reviewed his defibrillator and also noted a 9.2% burden of atrial tachycardia-atrial fibrillation (AT-AF). These episodes were attributed to a flu-like illness the patient was experiencing, and a note was made in the patient chart to discuss restarting anticoagulation with the patient given his new AT-AF.\nWhen roomed in the emergency department, his systolic blood pressure taken in his left arm decreased to approximately 95/60 mmHg without any change in consciousness or symptomatology; the blood pressure in his right arm was similar to his initial measurement at triage. His left radial pulse was absent. Soon after this discovery, his pulse rose to 170-180 beats per minute, which prompted his CRT-D to provide a shock. Pacemaker interrogation confirmed VT. He was sent for emergent CT angiography to assess for aortic dissection due to the discrepancy in the upper extremity blood pressures. The CT (Figure ) demonstrated an occluded mid-left subclavian artery without opacification of the left vertebral artery. The LIMA was not well visualized.\nAortic dissection or aneurysm was not observed. He was admitted to the cardiology intensive care unit with vascular surgery consultation for acute limb ischemia. He was started on a heparin drip for subclavian arterial thrombosis causing myocardial ischemia and started on lidocaine for ischemia-mediated VT; notably, his troponin rose from 0 ng/ml to 1.78 ng/ml (normal <0.05 ng/ml) five hours after presentation. Coronary catheterization noted chronic total occlusion of the left anterior descending artery with collaterals, a patent right coronary artery vein graft, and proximal occlusion of the left subclavian artery with an inability to visualize or engage the LIMA. Runoff of contrast into the left arm demonstrated low flow in the radial artery, but there were collateral arteries from other vessels, suggesting a chronic occlusion. No intervention was performed during the catheterization. After admission, the medical team discussed the goals of care with the patient. He wished to avoid further surgical or procedural interventions. He enrolled in hospice, and his CRT-D was shut off. Later that day, he expired from VT cardiac arrest noted on telemetry. |
An 83-year-old female with a past medical history of rheumatoid arthritis (on DMARD's), asthma, depression, gastroesophageal reflux disease (GERD), and lumbar spondylosis, as well as a past surgical history of right posterior total hip arthroplasty (1999), bilateral total knee arthroplasties (2003, 2012), and right shoulder hemiarthroplasty (2010), presented with five days of right hip pain and inability to ambulate after bending down. In the emergency department, initial radiographs revealed a right posterior hip dislocation, as well as chronic appearing fractures of the right greater trochanter and left inferior public rami (). Her right lower extremity was shortened, internally rotated, and adducted. A propofol-induced conscious sedation was performed by the emergency physician and closed reduction was attempted by an experienced orthopaedic resident. The reduction maneuver involved hip flexion, traction, adduction, and internal rotation followed by external rotation and abduction. After three attempts, post reduction radiographs were significant for a right inferior obturator hip dislocation (). The patient tolerated the procedure and was neurovascularly intact distal to her hip. Computed tomography (CT) was performed, which confirmed a persistently dislocated femoral head with intrapelvic migration through the right obturator foramen (Figures and ). Having failed three attempts at closed reduction, the patient was taken to the operating room for open reduction and revision arthroplasty.\nUsing a posterolateral approach, the femoral head was found to be locked inferior and posterior to the acetabulum. Manual traction was utilized to successfully extricate the femoral component from within the obturator ring. Both the femoral and acetabular components were stable; however, a large amount of posterior wear was noted on the liner, which was exchanged for a constrained component. A greater trochanteric hook plate with cerclage cables was then utilized for the fixation of the greater trochanteric fragment (). Excellent stability with a full range of motion was noted.\nPostoperatively, the patient was weight bearing as tolerated, with standard posterior hip precautions including an abduction pillow. Aspirin 325 mg BID was used for deep vein thrombosis (DVT) prophylaxis. Although the patient initially did very well, she developed urosepsis six months after the index procedure, leading to an acute right periprosthetic septic hip with Proteus mirabilis. Radiographs showed greater trochanteric escape from the hook plate (). She then underwent irrigation and debridement with greater trochanter excision and hook plate removal (). The patient was discharged with 6 weeks of ceftriaxone antibiotics via a peripherally inserted central catheter and has since been doing well with no further dislocations. |
A 65-year-old male was referred for evaluation of chronic pain over his pacemaker (PPM) site. He had a history of chronic obstructive lung disease, diabetes mellitus, and aortic stenosis previously treated with a bioprosthetic aortic valve two years prior. His post-operative course was complicated by complete heart block requiring a dual-chamber PPM implanted on the right due to a persistent left superior vena cava (SVC) draining into the coronary sinus. Upon follow-up, he reported persistent discomfort at the PPM site exacerbated by positional changes and movement of the right shoulder. He also reported device migration and rotation within the pocket, with an ability to flip the device around the X and Z axes []. On examination, the device site had no signs of active infection. The generator was palpable and easily rotated within the CIED pocket around the single suture, with reproducible pain during generator movement. Given the significant impact of symptoms on his quality of life and possibility of an indolent infection, the patient presented to the electrophysiology laboratory for extraction of the existing PPM system and re-implantation on the contralateral side.\nIntra-operatively, the device was found to be anchored to the pectoral muscle with no clear evidence of pocket infection. The generator was mobile and easily movable around both the X and Z axes within the pocket. The leads and generator were freed up and extracted from the vasculature with simple traction. After the patient was re-prepped and the operators re-scrubbed, a new dual-chamber PPM system was implanted on the left side via the left axillary vein and persistent left SVC (Figure ). Prior to insertion in the pocket, the generator was placed in a CanGaroo® envelope (Aziyo Biologics Inc., Silver Spring, MD, USA), which had first been soaked in an antibiotic solution containing neomycin and polymyxin B. The device and envelope were then anchored to the pectoral muscle by a three-point fixation to prevent all movement within the pocket (Figure , ). Post-operatively, the patient’s right-sided discomfort immediately abated, and there has been no device movement or significant symptoms related to the left-sided PPM system over a six-week follow-up period. |
A 28-year-old healthy woman with unremarkable medical history except for mild hypothyreosis developed sudden painless left-sided foot drop during her first pregnancy at 16 weeks of gestation. Lumbar nerve root compression was excluded by MRI. Electroneurographic and electromyographic examination 6 weeks after symptom onset revealed an isolated axonal lesion of the sciatic nerve with predominant affection of the peroneal portion. There was no history of trauma. Family history was negative for neurofibromatosis type 1, hereditary motor and sensory neuropathy or other neuromuscular diseases. She was diagnosed as sciatic nerve palsy of unknown origin and was recommended for physiotherapy (strengthening exercises to the left tibialis anterior muscle). Paresis persisted during the further course of her pregnancy. Additional neurologic symptoms did not occur. Sensory deficits were absent. She had an uneventful Caesarean delivery at 40 gestational weeks and gave birth to a healthy girl. Thorough neurologic investigation was performed three weeks later. Follow-up MRI of the lumbar spine was again normal. Routine laboratory parameters were unremarkable. Cerebrospinal fluid examination including immunologic and infectiologic parameters was within normal limits except for a slightly increased protein level (730.4 mg/l). Inflammatory neuropathy was assumed. However, application of intravenous immunoglobulins (IVIG) for 3 days had no beneficial effect at this time. The patient got bracing for her left leg and further physiotherapy was prescribed.\nFollow-up examination one year later showed ongoing weakness of the left foot (grade 2/5) and toe extension (grade 3/5) as well as ankle eversion (grade 2/5). Electroneurography demonstrated stable findings with prolonged distal motor latency of the tibialis and peroneus nerve and marked reduction of amplitudes in the peroneus nerve. A causal relation between paresis and pregnancy was considered highly unlikely at that point in time.\nThree years after the first presentation at the time of her second pregnancy she reported that the residual paresis of her left leg had gradually worsened again since the 8th week of gestation. Moreover, she had experienced slight weakness of foot extension in the other leg as well. Upon admission at 28 gestational weeks, neurological examination revealed complete palsy of left foot and toe extension as well as ankle eversion and slight weakness of ankle inversion and plantar flexion (grade 4/5). The right leg now also showed paresis of foot and toe extension (grade 4+/5). Sensation was normal. The patient did not report any pain. Motor nerve conduction studies confirmed deterioration with conduction now being absent in the left peroneal nerve. Detailed history taking disclosed a relationship between intermediate worsening of the paresis and the menstrual cycle (deterioration 2–3 days prior to menstruation). MRI of the pelvis (performed without contrast agent because of pregnancy) revealed bilateral fusiform irregular expansion of the sciatic nerves with separation of single nerve fascicles and hyperintensity on T2-weighted images (Fig. ). Compression of the nerves by other anatomical structures could be excluded. Findings were considered compatible with bilateral intraneural perineurioma. To rule out other differential diagnoses numerous laboratory exams were performed including CA-125 and Human Epididymis Protein 4 (HE4) as markers for active endometriosis or ovarial tumors as well as anti-ganglioside and glutamic acid decarboxylase (GAD) autoantibodies indicating immune-mediated neuropathy. Results were unremarkable. Repeated cerebrospinal fluid examination with flow cytometry was normal. Protein level was now within normal limits.\nBecause therapeutic options during pregnancy were limited and an immunological etiology was still considered, intravenous steroid therapy with 1000 mg methylprednisolone was administered for three consecutive days. It had no beneficial effect. Four weeks later the patient was additionally treated with a dose of 120 g of IVIG over 4 days. After that she reported slight improvement in gait. Standing on tip-toe was again possible. Because of that, IVIG therapy was repeated at the same dose immediately after the uneventful Caesarean section, which was performed at 38 gestational weeks.\nOn follow-up examination four weeks postpartum, sciatic nerve palsy had improved up to the degree of the residual paresis after her first pregnancy. Right-sided foot drop had resolved completely. Another MRI scan of the pelvis, now performed with contrast agent, showed a stable extent of the bilateral lesions. Uptake of contrast agent was not seen. We suggested performing a nerve biopsy to clarify the entity of the lesion and recommended another clinical, radiological and electrophysiological follow-up examination at three months to the patient. However, she refused any further diagnostics because she was content with her current state. |
A 58-year-old Japanese man fell from a ladder and sustained a left acetabular fracture. His injury was managed conservatively by a previous physician and he was able to walk without pain. He developed left coxalgia six months after the injury, and was unable to walk when he visited our institution, one year after the onset of pain. He had a past history of hepatic cirrhosis due to hepatitis C and had undergone a living liver transplantation 12 years prior to the current admission. He had consumed no alcohol since the liver transplantation and had no history of corticosteroid therapy.\nPlain radiography and computed tomography (CT) images obtained at his first visit to our institution showed a fused acetabular fracture and collapsed left femoral head (Figure ). Magnetic resonance (MR) imaging demonstrated a low-intensity area on T1-weighted images consistent with the collapsed area (Figure ). Fat-suppressed T2-weighted images demonstrated a diffuse region of high intensity in the proximal and medial portions of his femoral head. The initial images obtained at the time of injury showed fractures in the acetabular roof and inner wall of his acetabulum without hip dislocation, and an approximate 2mm step-off was observed on the articular surface of the acetabular roof (Figure ). The acetabular fracture was classified as an anterior column-posterior hemitransverse fracture according to the Judet-Letournel classification system []. There was also a fracture on the medial articular surface of his femoral head.\nRetrospective revaluation of the plain radiographs and CT images revealed that the weight-bearing area of his femoral head had progressively collapsed, with residual displacement of the acetabular fracture (Figure ). Dual X-ray absorptiometry showed that our patient’s bone mineral density was 0.657g/cm2 in the unaffected right femoral neck, which was 76% of the young adult mean, indicating the presence of osteopenia. Our patient underwent left total hip arthroplasty for advanced osteoarthritis associated with the collapse of his femoral head. The resected femoral head exhibited a flattened widespread surface with a flap of articular cartilage and subchondral bone, and the cut section demonstrated a subchondral fracture line parallel to the articular surface (Figure A). Histological examination demonstrated repair tissue consisting of marked fracture callus and vascular rich granulation tissue on both sides of the fracture line (Figure B). There was no evidence of antecedent osteonecrosis. Based on these histopathologic findings, we determined that the collapsed lesion was caused by a subchondral fracture of his femoral head resulting from acetabular fracture. |
A 28-year-old woman was sent to our ward by her family for the reason of being in low mood and suffering insomnia all night. We were informed that the patient had been addicted to network gambling with no obvious predisposing causes since the beginning of 2018. In August 2018, she began to be in depressed mood, and unwilling to communicate with other people. The patient always stayed up participating in online gambling, later she even stole her relatives’ credit cards, borrowed money from colleagues, or through mobile applications, but she still worked fine. In the next 6 months, the patient's condition got worse: she could not help gambling, and felt more anxious after her family found this secret. With the accumulation of the debt, her guilt got worse. However, she still could not kick the habit, and treated network gambling as a way to paralyze herself. The pace of her life began to become chaotic: she always cried all day and fear that other family members would abandon her, she refused to go outside or meet anyone, it seemed hard for her to deal with housework or take care of the children. After a fierce quarrel with her husband, the lady claimed that she did not want to live anymore though later there's no specific action. The family then felt it necessary to take her for systemic treatment and she scored 35 on the 17-item Hamilton Depression Rating Scale (HAMD-17). According to patient's history of present illness, what we considered the initial diagnosis is severe depressive episode without psychotic symptoms (ICD-10 F32.2). Venlafaxine, lorazepam, and buspirone were used for the relief of depression symptoms and the alleviation of her anxiety.\nAt the beginning we were confused and tried to find out if there were any psychogenic causes that might lead to her obsession with online gambling, a period of medical history caused our special attention: the lady claimed that she was diagnosed as Parkinson disease 5 years ago for the reason of left limb tremor, and kept taking piribedil (100 mg/d) since then, the effect was fairly ideal. By the way, we learned by further inquiry that the patient felt overexcited and satisfied when she gambled online, she knew it was not correct but it just impossible to resist the temptation. Every time she lost, the patient would feel upset and regretful, and might become irritable. She eventually lost her job, and the relationship with her husband was almost broken, which let her fall in deep despair. After careful consideration and analysis, we decide to revise the diagnosis as follows: severe depressive episode without psychotic symptoms (ICD-10 F32.2); mental and behavioral disorders due to multiple drug use and use of other psychoactive substances (ICD-10 F19). Considering the patient still in depressed mood accompanied by limb tremor symptoms and reeling gait (motor examination with the Unified Parkinson's Disease Rating Scale [UPDRS] revealed 18 scores), we made some adjustments on the medication: piribedil was discontinued with this hospitalization accordingly, venlafaxine was eventually replaced by bupropion, which the latter proved to be more tolerable, and benzhexol was added to control PD symptoms. We also consulted a neurological doctor, and were advised to add selegiline as a supplement. Three weeks later, the patient showed significant improvement in mood (HAMD-17: 11), and the PD symptoms were relieved (UPDRS motor: 7), she was no more obsessed in online gambling, and was discharged after careful assessment. During the 1-year follow-up, we learned that there was no recurrence of depressive episode or online gambling, the patient's family told us that she found a new job and her PD symptoms had been well-controlled during the past year. |
This is a 42-year-old African American female who had an incidental finding of a new 17-mm pancreatic tail cystic lesion found on a CT scan during workup for abdominal pain. Patient was lost to follow-up, until a repeat CT scan 1 year later demonstrated a stable low attenuation, 15 mm × 11 mm pancreatic tail cyst (\n). She complained of decreased appetite and intermittent epigastric pain over the last year. She was referred for EUS with FNA for further evaluation of the cyst. Her history is significant for diabetes mellitus, human immunodeficiency (well-controlled), alcohol and intermittent substance usage (marijuana and cocaine), recent ventral hernia repair, and family history significant only for breast and lung cancer. She has no significant tobacco usage history. No prior episodes of pancreatitis, known pancreatic disorder, or prior intervention. Exam is otherwise unremarkable, without palpable mass, jaundice, or tenderness to palpation. The patient underwent an EUS which found a complex cystic lesion in the pancreatic tail and an abnormal lymph node in the peripancreatic region (\n). The pancreatic lesion had high-risk features, demonstrating both cystic and atypical solid components, measuring 27 mm × 9 mm, and abutting the splenic vessels near the hilum without invasion and a 27 mm × 11 mm enlarged peripancreatic lymph node. Both were sampled by FNA. Approximately 5 mL of pancreatic cystic fluid was obtained which appeared cloudy, blood tinged, and viscous. Fluid analysis demonstrated CEA level of 5,327.7 ng/mL, amylase of 335 U/L, and glucose of 69 mg/dL. Cytology demonstrated benign appearing squamous cells and a few atypical, degenerated cells. Lymph node findings were benign. Serum CA 19–9 was low at <3 U/L.\nGiven these high-risk findings the patient underwent distal pancreatectomy and splenectomy. Intraoperative findings included no evidence of distant metastatic disease, no worrisome lymphadenopathy, and a lesion in the pancreatic tail without invasions into surrounding tissues. Pathological evaluation demonstrated IPAS with associated benign epithelial-lined mucinous cyst, without in situ or invasive carcinoma identified. The cyst lining shows squamoid and apocrine features. No goblet cells are identified. Immunohistochemistry shows positive staining for CEA in the cyst lining (\n). Twelve benign lymph nodes negative for carcinoma and negative margins. The patient did well postoperatively and was discharged on postoperative day 6. At outpatient postoperative visit, she continued to do well and had no ongoing issues with abdominal pain. |
A 65-year-old man was referred by the otolaryngology department to our outpatient clinic due to sudden swelling and mild pain around the right eye. On examination, the patient exhibited what appeared to be severe edema encompassing the upper and lower lids of the right eye (). Crepitus was clearly audible on palpation of the eyelids. An attempt to open the lids was unsuccessful. Visual acuity and intraocular pressure could not be measured due to extreme lid swelling. The patient reported that he had undergone transnasal endoscopic nasal polypectomy through the right nostril 2 days earlier. He said he had been instructed not to cough or strain after the endoscopic nasal surgery and the sudden swelling occurred immediately after severe coughing and straining. We suspected that the sinus wall was weakened due to his endoscopic surgery and the increased pressure caused by straining had forced air in the nose into the periorbital area. B-mode ultrasonography showed trapped air in the periorbital area ().\nConsidering the patient’s anxiety, the severity of periorbital emphysema, inability to conduct a full ophthalmologic examination, and the risk of complications such as compressive optic neuropathy, the patient was re-evaluated for a surgical intervention. After consultation, it was decided to evacuate the air using a 21 gauge needle inserted in the subcutaneous tissue of the upper and lower lids. In sterile conditions, the eye area was cleaned with 10% povidone-iodine. A 21-gauge needle was passed through the skin and subcutaneous tissue of the upper and lower lids parallel to the tarsus about 1.5 cm from the lid margin. Evacuation of subcutaneous air was evident from a significant reduction in lid swelling during the procedure (). The patient’s vital signs were stable and the procedure was concluded. He was discharged with systemic antibiotics (cefuroxime axetil 500 mg twice daily) and moxifloxacin drops four times daily.\nOn follow-up examination the next day, the periorbital emphysema was substantially reduced and the globe could be examined (, ). He had full visual acuity in both eyes; intraocular pressure was 17 mmHg in the right eye and 16 mmHg in the left eye. Dilated fundus examination was normal. No restriction in eye movements was observed. Follow-up examinations at 1 week and 1 month revealed no pathological findings. |
A 14-month-old Arab boy whose parents were first-degree cousins was referred to our pediatric ward with a history of frequent severe chest infections, chronic diarrhea and failure to thrive. This family lost two children at the age of 6 and 8 months due to SCID. The patient was found to be lymphopenic and further investigations confirmed severe combined immunodeficiency with the first sign being fever at 1 month of age. The cause of his immunodeficiency was suspected to be ADA deficiency. He also had a Mycobacterium intracellulare infection and was suspected of having cytomegalovirus (CMV) gastroenteritis. He was irritable, in compensated sepsis with respiratory distress and his abdomen was soft with no palpable hepatosplenomegaly. He had a fine skin rash with no lymphadenopathy and his BCG vaccination site showed a non-infected old scar. The rest of his physical exam was normal. His past medical history revealed recurrent severe infections, especially chest infections. He had had at least four severe episodes of lower respiratory tract infection with bronchospasm. Almost all of these episodes needed admission to hospital and treatment with intravenous antibiotics. History of the index case also included diarrhea with loose stools 4 to 5 times daily. At 1 month of age, he developed a bacterial infection easily cured with a course of antibiotics. Investigations revealed mild hydro-uretero-nephrosis and no evidence of vesico-ureteric reflux. Past surgical history included a left inguinal hernia repair. Flow cytometry (FCM) analysis was performed in order to quantify the number of B- T-, and NK-cells. FCM results showed near absences of lymphocytes with only 101 cells per μl (2% of white blood cells). The lymphocyte subsets were 88% T cells with a CD4 to CD8 ratio of 3; 5% B-cells and 7% NK-cells. Absence of the common γ chain (CD132) which is associated with X-linked SCID was not evaluated. However, unlike our patient, X-linked SCID patients characteristically have a T-B+NK-phenotype which is different from our patient who has a T-B-NK-phenotype. The latter phenotype is seen in ADA deficiency [] and hence prompted our evaluation and study of the ADA gene mutation.\nIn order to assess the mutation causing SCID in this family, genomic DNA was amplified and the entire coding region and the exon-intron boundaries of the ADA gene were sequenced. The primers used to amplify all 12 exons of the ADA gene are summarized in Table . Briefly, ADA sequences were amplified from 100 to 200ng of DNA using specific primers (5μMdNTP (5mM), PCR buffer 10×, and one unit of expanded long Taq polymerase (Roche). Polymerase chain reaction (PCR) products were purified using a Qiagen purification kit and then assessed with a capillary electrophoresis bio-analyzer using the DNA 7500 chip. The purified PCR products were sequenced on an ABI 3130xI Genetic Analyzer using forward and reverse primers listed in Table .\nPredictions of the tolerance of the protein to the mutation were assessed using SIFT (Sorting Intolerant From Tolerant) programs (http://blocks.fhcrc.org/sift/SIFT.html) and Protean (Protein Structure Prediction and Annotation; LASERGENE V.6 software DNASTAR, Inc., Madison, WI, USA). Protean helps to predict and display patterns, secondary structural characteristics and physiochemical properties (hydropathy index and flexibility prediction). The study has been reviewed by the Evidence Based Medicine and Research center of this institution.\nAfter sequencing the entire ADA gene, we detected a single nucleotide substitution (c.847G>A) in exon 9 of this gene (Figure ). This nucleotide substitution resulted in the replacement of Arginine (Basic hydrophilic AA) with Glutamine (Neutral AA) at codon 282 (p.Arg282>Gln) thus altering the hydropathy index from 0.48 to 0.37. Protean predicted a change in the amino acid structure and this may affect the function. The mutation was located in the active domain of the protein, which extends from codon 8 to 346, thus it was expected to affect the deaminase activity of the enzyme. SIFT predicted that the AA change at this location could not be tolerated, and thus it is highly likely that it will have an effect on the protein structure and/or function. This sequence change was not detected in 50 unrelated controls of similar ethnicity. Based on the above findings, we strongly believe that this sequence change is probably pathogenic. |
A 34-year-old woman underwent left lower lobectomy for a pulmonary carcinoid tumor (pT1bN0M0-stage IA). Postoperatively, there was no pulmonary fistula or bronchial stump fistula, and her clinical course was favorable. She had been doing well for 8 years after completing therapy until 42 years of age when she visited a clinic with the chief complaints of fever and sputum. Chest plain radiography showed left-sided pneumonia, for which antibiotic treatment was initiated. Although the blood test result showed improvement of inflammatory markers, chest plain radiography showed no improvement in pneumonia; therefore, she was referred to our hospital.\nChest computed tomography (CT) showed a tumorous lesion nearly obstructing the bronchial lumen and the extension of pneumonia into the residual left lung (Fig. ). Recurrence of the bronchial stump was suspected based on her medical history. Subsequently, flexible bronchoscopy was performed and showed the presence of a mass, a fibrous suture material, that was completely obstructing the left second carina. Results of the biopsy revealed only fiber without evidence of malignancy (Fig. a). The sputum, blood, granuloma, and biopsy fiber cultures were negative.\nConsidering the risk of hemoptysis and bronchial stump fistula, the suture material obstructing the bronchial lumen was removed using a flexible bronchoscope with the patient under general anesthesia 1 week later (Fig. b). Little granulation tissue was observed at the site of the removal. Although there was some minor oozing of blood from the same site, hemostasis was achieved with argon plasma coagulation therapy. The procedure was completed without removing the small amount of granulation tissue because the bronchial lumen opened after removal of the suture material.\nAccording to a copy of the 2010 operating report, the bronchial stump was sutured with five stitches using an absorbable monofilament suture (4–0 polydioxanone suture [PDS]). However, the left lower bronchus stump had hypertonicity. To decrease the tension at the suture site, a 4–0 PDS attached to the Teflon pledget (CROWN JUN, size 6 mm × 10 mm) with two needles was placed in the central part of the stump. This procedure and our bronchoscopic findings indicated that the bronchial obstruction was secondary to the endobronchial migration of the Teflon pledget that had eroded through the bronchial wall.\nAt 1 month after removal, bronchoscopy showed pedunculated granulation tissue, the biopsy result showed no malignant findings, and the bronchial lumen was still open (Fig. c). At 4 months after removal, CT showed disappearance of the tumorous lesion protruding into the bronchial lumen and disappearance of pneumonia (Fig. ).\nThe patient’s clinical course after the procedure was favorable. At 1 year after Teflon pledget removal, there were no recurrences of the pulmonary carcinoid tumor or obstructive pneumonia. |
A 56-year-old woman underwent abdominal computed tomography (CT) because of febrile jaundice. The CT scan revealed a mass (29 mm × 20 mm) in the head of the pancreas with circumferential infiltration of the SMV and dilatation of the biliary and pancreatic ducts. There was no metastasis.\nAn echo-endoscopy with retrograde catheterization was realized with stenting of the biliary duct. This exam affirmed the diagnosis of locally advanced PA. Neoadjuvant therapy was planned before surgical revaluation. The patient received neoadjuvant chemotherapy with 6 cycles of FOLFIRINOX followed by radio-chemotherapy at 45 Gy over 5 wk associated with LV5-FU2 chemotherapy. The revaluation CT performed after neoadjuvant therapy revealed SMV thrombosis but no PV thrombosis and no contact with the tumor (Figure ). There was no ar-gument for a tumor origin of thrombosis, it was not enhanced by contrast product. There were some collaterals vessels from SMV to the Inferior Mesenteric Venous (IMV). A multidisciplinary tumor board decided on surgical resection, and PD was planned.\nOn exploration, there was no evidence of metastasis or peritoneal nodularity. We first approached the superior mesenteric artery to be sure of the resectability of the tumor. The intraoperative frozen-section analysis result of the superior mesenteric artery margins was negative. After dissection, we found a point of tumor contact with the SMV. There was SMV thrombosis, but the PV and splenomesaraic confluence were tumorfree. PD combined with SMV resection was performed to obtain a negative surgical margin. We mechanically sectioned the distal extremity of the SMV and selectively ligated the ileum and jejunum veins under the tumor. No reconstruction of this venous axis was realized after confirming, by a clamping test, adequate PV, splenic, and left gastric venous flow and the absence of bowel ischemia. We performed a Child reconstruction with pancreatojejunostomy and external pancreatic duct stenting and drainage (Figure ). Surgery lasted 10 hours. There was less bleeding, and no transfusion. We inked the tumor margins to differentiate areas of venous, arterial and posterior margin resection. The pathological diagnosis was PA with poor differentiation, lymph node metastasis (2N+/5), vascular and perineural invasion, and SMV wall infiltration, ypT3N1M0. All resection margins were tumor-free.\nDuring the postoperative course, the patient developed isolated chylous ascites that disappeared spontaneously in a few weeks. Control CT after surgery showed an aspect of aspecific colitis with edema in the mesenteric structures of the colon. The patient was released from the hospital after fifteen days. A multidisciplinary tumor board decided there were no indications for adjuvant therapy because of clinical and nutritional state of patient. Subsequently, the patient experienced metastatic evolution with hepatic and pulmonary lesions at 6 mo. Unfortunately, the patient died of metastatic progression, 15 mo after the surgery, with no evidence of local recurrence. |
A 66-year-old man underwent abdominoperineal resection of the rectum for advanced rectal cancer after preoperative chemoradiotherapy. During the operation, the root of the inferior mesenteric artery (IMA) was not ligated. The IMA was tagged and preserved, separating the nervous and lymphatic tissues from the root to a site just peripheral of the confluence of the left colic artery (LCA), then the superior.rectal artery (SRA) was ligated (). On day 3 post surgery, the patient experienced epigastric pain and vomited a large amount of bile-stained fluid. Plain abdominal roentgenograms showed marked gaseous distension of the upper small bowel. Under upper endoscopy, a decompression tube was placed at the upper jejunum 30 cm distal to the ligament of Treitz (). Because the third portion of the duodenum was bent caudally, the decompression tube could not be passed more distally. By day 5 post surgery, symptoms associated with ileus had disappeared. On the seventh postoperative day, the patient was awakened by epigastric pain, immediately followed by copious coffee-grounds diarrhea from the end colostomy. Although anemia and edema of the eyelids were present, the patient's general appearance was good. Upper endoscopy demonstrated a large amount of fresh blood in the stomach and a longuitudinal ulcerative lesion having a visible pulsative vessel in the base of the third portion of the duodenum (). Because of the severe pulsation and intermittent but spurting bleeding, hemostasis under endoscopy could not be performed. To identify the origin of bleeding, an emergency computed tomography (CT) was performed. Surprisingly, on arterial-phase CT revealed that the marking clip placed at the third portion of the duodenum was very close to the stump of the SRA (, arrow). This finding implied that the source of bleeding was the stump of the SRA. Thirty minutes after the emergency CT, the patient vomited a large amount of fresh blood and became hemodynamically unstable. Immediately after fluids resuscitation and transfusion with 4 packed RBC and FFP, the patient was transferred to the angiography room. Emergency angiography revealed active projectile bleeding from the stump of the SRA (). The stump of the SRA was in direct communication with the third portion of the duodenum (, arrow). Extraluminal hemorrhage was not identified. The length of the proximal portion of the IMA was considered to be sufficient for embolization. The stump of the SRA was obliterated using microcoils (TORNADO) between the root of the IMA and the tip of the ligation distal to the LCA (). Coil embolization was successful for achieving hemostasis. During the next 24 hours, the patient underwent fluid resuscitation and blood transfusion including 4 packs of RBC and FFP. Rebleeding did not develop after coil embolization. By the 10th day after coil embolization, symptomatic improvement and hemodynamically stable status without dopamine were achieved. On the 14th day after coil embolization, upper endoscopy revealed only the flexion of the third portion of the duodenum (). CT showed no sign of intraabdominal hemorrhage (). Edema and mild ischemic change of the end colostomy were identified as due to obstruction of the LCA arising from coil embolization. A diet was given from the 15th day after coil embolization. The clinical course was uneventful and the patient was discharged on the 40th postoperative day.\nOne of the rare points in the present case is the site of bleeding. Delayed postoperative hemorrhage in colorectal surgery has rarely been reported. All reports, including Japanese case reports, have demonstrated that the usual source of hemorrhage is a pelvirectal space associated with pseudoaneurysm of the ramification of the iliac artery and that the mechanism for formation of pseudoaneurysm was violation or exposure of the tunica adventitia of these vessels caused by lymph node dissection or postoperative anastomotic leakage [–]. In the present case, the source of hemorrhage was identified at the stump of the SRA. Although postpancreatectomy hemorrhage often occurs via active bleeding from the stump of the GDA, closely associated with anastomotic leakage at the pancreatojejunostomy [], our search of PUBMED showed no previous reports describing delayed hemorrhage from the stump of the SRA after colorectal surgery. In addition, a characteristic of this uncommon complication is that bleeding from the stump of the SRA was directly linked with the duodenum, leading to intraluminal hemorrhage without expansion into the abdominal cavity. Here we investigate the mechanism of this uncommon complication with a main focus on factors associated with surgical procedures in the present case. First, during lymph node dissection, the IMA was preserved and skeletonized from its base to its tributary (the peripheral side of the root of the LCA). The stump of the SRA was located approximately 4 cm distal to the base of the IMA (). Second, through the excision of the mesocolon, the peritoneum was resected from the infraduodenal portion to the bifurcation of the iliac artery, exposing the anterior aspect of the aorta, resulting in thebroad range of peritoneal defect. The peritoneal defect was repaired with an interrupted suture using 3-0 absorbable sutures. Because the transverse defect was quite broad, the suture line of peritoneal reconstruction yielded robust tension and contraction of the adjacent organs. Accordingly, the third portion of the duodenum was displaced downward (). Third, during the operation, an end colostomy was constructed with the sigmoid colon. During the maneuver of the left colon, the splenic flexure was not mobilized. Therefore, elevation of the end colostomy toward the abdominal wall yielded spasiticity of the mesenteric root of the left colon, including the stump of the SRA, leading to rotation of the stump of the SRA toward the cephalad portion very close to the anterior aspect of the duodenum (). Fourth, unfortunately, the patient developed palalytic ileus at the 3rd postoperative day. The flexion of the duodenum made it difficult to place the decompression tube distal to the ligament of Treitz. We infer that a strong force to the third portion of the duodenum during the insertion of the decompression tube violated the duodenal wall, and the stump of the SRA ().\nIn the present case, the patient developed delayed postoperative hemorrhage 4 days after placement of the decompression tube for postoperative ileus. Although we could not identify the formation of pseudoaneurysm on the emergency CT or angiography, it is assumed that exposure of the tunica adventitia of the IMA and contact between the decompression tube and the stump of the SRA caused a pseudoaneurysm of the stump. |
A 79-year-old Korean woman was referred to our hospital for an incidentally detected subepithelial lesion in the stomach. Her medical history and alcohol intake, smoking history, and recent drug use were unremarkable. A physical examination did not reveal significant abnormalities. The routine laboratory tests conducted at the time of referral to our hospital were within the normal ranges.Abdominal computed tomography (CT) showed a well-defined, intramural, heterogeneous mass lesion in the gastric body. The mass was oval-shaped and exhibited an enhanced pattern after contrast medium injection. In addition, no enlarged lymph nodes or distant metastasis in other organs around the stomach were observed (Figure ).In an endoscopic examination of the upper gastrointestinal tract, we observed that the greater curvature of the upper body was covered with relatively normal mucosa. Additionally, a subepithelial lesion approximately 2.5cm in length was observed bulging into the lumen (Figure ). Using endoscopic ultrasonography (EUS), we observed a round mass of approximately 18mm×12mm in size that originated from the submucosal layer. Within this mass, focal lesions with anechoic foci that appeared to comprise the cystic portion were observed, along with an inhomogeneous pattern (Figures A and B). On the basis of these combined examination results, the possibility that the lesion was a tumor of mesenchymal origin with malignant potential was explained to the patient and a decision for surgical treatment was made. With the patient under general anesthesia, a laparoscopic wedge resection of the gastric subepithelial lesion was performed. A macroscopic examination revealed a mixed cystic and solid submucosal mass (45mm×22mm×15mm) filled with mucinous material (Figure ).\nMicroscopically, broad interdigitating bundles of smooth muscle were present between the ductal collections. Some of the ducts were dilated and lined with tall columnar epithelium featuring regular, basally oriented nuclei. Also some of them were surrounded by branched glands lined with mucus-secreting cells (Figure ). According to cytologic immunophenotyping, the lesion was consistent with a smooth muscle stromal and epithelial tumor (smooth muscle actin-positive) (Figure ). The stromal component revealed a low proliferative index (Ki-67 protein immunoexpression, <2%).\nThe patient did not develop any noticeable complications following the operation. Oral intake was initiated on the third post-operative day, and the patient was discharged from the hospital on the sixth post-operative day. Currently, the patient’s progress is being monitored in the outpatient clinic. |
A 53-year-old female presented to our Emergency Department (ED) in January 2021 with a six-day history of nausea, vomiting, diarrhea, and myalgias. Her relevant past medical history included liver transplant in 2010 due to alcoholic cirrhosis, hypertension, hypothyroidism, anxiety, and chronic kidney disease. She also reported that she had been diagnosed with and treated for COVID-19 infection three months prior to the current ED visit in October 2020. She was hospitalized at that time for encephalopathy due to her COVID-19 infection and was treated with remdesivir and convalescent plasma. No virus serotyping was done on this admission. She recovered and was discharged from the hospital after a seven-day course that did not involve admission to the intensive care unit or require any significant supplemental oxygen therapy beyond standard nasal cannula. She received a negative COVID-19 result approximately one month after discharge from the hospital in November 2020 and reported a full recovery in the interim. Her immunosuppression regimen was tacrolimus 1 mg twice daily, and her graft function since transplantation was stable with normal results on outpatient laboratory and radiographic monitoring.\nDuring the present ED encounter (January 2021), she was stable from a hemodynamic and respiratory perspective with normal vital signs. Physical examination revealed no acute abnormalities, including normal lung examination. She received a positive COVID-19 result (SARS-CoV-2 Rapid PCR kit, Roche Diagnostics, Rotkreuz, Switzerland). The remainder of her laboratory workup revealed no significant derangements other than mild baseline renal insufficiency with a creatinine of 1.28 mg/dL.\nHer nausea and vomiting were not intractable, and after consultation with the hospitalist service, no reason was identified for inpatient management, especially in light of lack of severe symptoms or pulmonary involvement. She was discharged from the ED and referred to our outpatient service for monoclonal antibody infusion therapy and was also instructed to follow up with her primary care and transplant providers. |
A 66-year-old woman presented to our hospital with severe bilateral hand clumsiness, gait disturbance, and nuchal pain. She had undergone hemodialysis for 40 years due to glomerulonephritis. A fusion surgery had been performed in her lumbar spine due to DSA 8 years earlier. The patient's bilateral hand clumsiness and gait had gradually deteriorated in the month prior to her presentation at our hospital. She had also experienced severe nuchal pain for the past 3 months. A neurological exam revealed that deep tendon reflexes in both upper extremities were markedly increased. The patellar tendon reflexes were also markedly increased bilaterally. Both Achilles tendon reflexes were decreased, probably due to the previous lumbar spine lesion. Manual muscle testing revealed generalized weakness (grade 4/5) throughout the extremities. Sensation was impaired below the upper cervical area. She had severe hand clumsiness and was barely able to walk due to severe spasticity of the lower extremities. She also reported severe nuchal pain. Based on the neurological findings, we concluded she had myelopathy below the upper cervical level. Her Japanese Orthopedics Association (JOA) score for cervical myelopathy was 1 out of a maximum score of 14 (3 points from the JOA total score of 17 is deducted for patients undergoing hemodialysis because of the difficulty in evaluating their bladder function) [].\nSagittal computed tomography (CT) at the atlanto-occipital joints levels showed bone cysts and posterior subluxation of the bilateral joints (). Sagittal CT at the midline level showed the clivus located posterior to the odontoid process, suggesting posterior subluxation of the atlanto-occipital joints. DSA changes were also observed in the lower cervical spine (). Magnetic resonance imaging (MRI) showed spinal canal stenosis at both the upper and lower cervical levels ().\nWe performed posterior Oc-C7 fixation, C1 posterior arch resection, and C3-C7 laminoplasty. A block of iliac bone graft was placed between Oc and C2. Bone graft was also placed between C3 and C7. Postoperative radiography showed a good alignment of the cervical spine (). A solid bone union, an expanded spinal canal, and reduction of the clivus () were observed on a postoperative CT 14 months after the surgery. Eighteen months after surgery, the patient's postoperative JOA score was 7 points and her nuchal pain had disappeared.\nThe patient was fully informed that her data would be submitted for publication, and she gave her consent. |
Our patient is a 54-year-old female with a past medical history of hypothyroidism and very severe obesity (BMI 48 kg/m2). She underwent laparoscopic gastric sleeve surgery in the year 2012. Results were non-satisfactory in terms of weight loss with a difference of 6 kg/m2 in BMI post-procedure. So after six years, she underwent a laparoscopic biliopancreatic diversion with a duodenal switch. She had an uneventful postoperative recovery period. An upper gastrointestinal (GI) study contrast post-procedure did not reveal any evidence of obstruction or leak. The patient was discharged home two days after the procedure. A few days later, she started experiencing three episodes of nausea with brown-colored vomitus. She was found to be septic, with a heart rate of 110 beats per minute and temperature of 100.2oF. Her white blood cells count was 12/mm3.The source of infection was presumed to be intraabdominal considering her symptoms. Computed tomography (CT) of the abdomen and pelvis showed mildly dilated proximal small bowel loops. The patient was started on empiric antibiotic therapy with ceftriaxone 1 gm intravenous (IV) daily and metronidazole 500 mg IV every eight hours. Symptoms did not improve, so she was taken back to the operating room for diagnostic laparoscopy. Partial small bowel obstruction was noted along with ischemia of a segment of the ileum that was part of the duodenoileostomy due to mesenteric dissection. She underwent an open revision of the small bowel anastomosis with resection and anastomosis for the obstruction revision of the duodenoileostomy. Her hospital stay post-surgery remained uneventful. Diet was advanced gradually throughout the hospital course and a week later, the patient was discharged home with outpatient follow-up. Three weeks after that procedure, she noticed a productive cough with thick, yellow, foul-smelling phlegm and shortness of breath. She saw her primary care physician. A chest X-ray performed showed a right lung infiltrate with a right-sided pleural effusion. She was started on treatment with augmentin 500 mg/125 mg every eight hours. Her symptoms became worse so she came to the emergency room. Her vitals showed blood pressure 129/79 mmHg, heart rate 86 beats per minute, respiratory rate 20 breaths per minute, and temperature 98.6oF. Pulse oxygen saturation was 97% on room air. Mild leukocytosis was evident (white blood cells count 11.4/mm3 with no bands or left shift). A chest CT showed loculated, right-sided hydropneumothorax with almost total collapse of the right lung (Figure ).\nThere was a fistulous connection evident, extending from the surgical anastomosis in the stomach/bowel in the right upper quadrant through the right hemidiaphragm to the right hemithorax. These CT scan findings were new as compared to a CT scan obtained for this patient six months prior to the duodenal switch when she presented to the emergency department for non-specific left-sided chest pain. To analyze the anatomy of the fistula further, an upper gastrointestinal fluoroscopic contrast study was performed that showed a large fistula from the distal stomach prior to the duodenal bulb opening to the right pleural cavity (Figure ).\nConsultations from gastroenterology and cardiothoracic surgery teams were obtained. Chest tube drains were placed with the plan of eventually performing a video-assisted thoracoscopic surgical decortication. Post-procedure CT showed patent chest tubes draining the right pleural cavity. The drained fluid was exudative in nature as per Light’s criteria (fluid lactate dehydrogenase > 12,000 u/L and total protein ratio = 0.7) and culture from the right lung empyema grew Escherichia coli, Klebsiella pneumoniae, Pseudomonas aeruginosa, and Candida albicans. An infectious disease consultation was placed at this time. The patient was started on levofloxacin 750 mg IV daily for two weeks as per the sensitivity result obtained for Escherichia coli, Klebsiella pneumoniae, and Pseudomonas aeruginosa. Micafungin 100 mg IV daily was started for the infection with Candida albicans. This was later switched to Diflucan 400 mg IV daily for a total of two weeks. Repeat cultures from the draining fluid were negative toward the end of the second week.\nFor treatment of the fistula, the patient was transferred to another facility for esophagogastroduodenoscopy (EGD) and possible clipping of the fistula due to the unavailability of that particular service in our hospital. As a result, there was a delay of 16 days from admission to the treatment of the fistula. When the EGD was performed, it showed that there was no anastomotic leak from the previous surgery. No evidence of any stricture was identified at the previous anastomosis. A small fistulous tract was noted in the distal part of the antrum likely secondary to ulcer formation that was noted in very close proximation to the fistula tract. An endoscopic clipping was performed. A post-procedure contrast study performed on the same day revealed complete closure of the fistulous opening. The patient was transferred back to our facility after the procedure. An upper GI contrast study performed two days later showed residual leakage from the distal stomach to the right upper quadrant. A repeat EGD was performed along with fulguration of a fistulous opening with argon beam coagulation and repeat orthoscopic clip application with complete obliteration of the fistula tract. This was confirmed by an upper gastrointestinal contrast study showing no persistent fistulous communication between the post-bulbar duodenum and pleural space (Figure ).\nAfter confirmation of fistula obliteration, a video-assisted thoracoscopic surgery was performed followed by the washout of the right pleural space with the placement of a right-sided chest tube. The patient was discharged home after the procedure and has been followed by multidisciplinary teams on an outpatient basis. |
A 63-year-old male was referred to Mayo Clinic for CNS symptoms of left-sided arm weakness and leg weakness, which started 6 months prior. Magnetic Resonance Imaging (MRI) of the brain with contrast revealed a homogeneously enhancing right, frontal lobe mass, which was biopsy positive for DLBCL with MYD88 L265P alteration detected by PCR. He subsequently completed 4 cycles of high dose systemic methotrexate, rituximab and temozolomide. Otherwise, he had no previous ocular history or ocular medications. He had a medical history of benign prostatic hypertrophy and deep venous thrombosis thought to be secondary to DLBCL.\nBy the time he presented to us, he described a 2-year history of floaters and haze in the right eye. According to the patient, testing had been performed in the community to rule out VRL, which was negative. The authors did not have access to detailed results of these investigations. The reason for referral had been for an increase in floaters in the right eye and new onset of similar symptoms in the left eye. There was no associated pain, redness or photophobia.\nOn examination, his vision was count fingers (CF) in the right eye and 20/25—in the left eye. The intraocular pressure (IOP) was 12 mmHg in each eye. On slit lamp examination, he was found to be phakic, with 3+ cells in the anterior vitreous of both eyes. Bilaterally, there were 0.5+ cells (high power field) in the anterior chamber and trace flare as well as fine keratic precipitates inferiorly on the endothelium. Posterior segment dilated examination revealed a hazy vitreous with no view in the right eye, and a slight haze in the left eye. There were no clinically visible lesions in the choroid or retina of the left eye. B-scan ultrasound confirmed the pathology was limited to the vitreous. MRI of the brain did not show new lesions. Given his clinical presentation and history, a presumed diagnosis of VRL was made and the patient was consented for a pars plana vitrectomy of the right eye with intraoperative injection of 400 mcg/0.1 cc of methotrexate. The left eye was treated medically with alternating rituximab 1 mg/0.1 cc and methotrexate 400 mcg/0.1 cc intravitreal injections. The vitreous biopsy confirmed VRL which was CD20+, MYD88 L265P PCR+ and ki-67 markedly positive.\nHe continued to receive alternating rituximab 1 mg/0.1 cc and methotrexate 400 mcg/0.1 cc intravitreal injections in both eyes weekly for a total of 8 injections and underwent systemic stem cell transplantation. Six months post-operatively, he was doing well with a corrected visual acuity of 20/50- right eye and 20/40- left eye. Anterior chamber and anterior vitreous showed faint cells with a clear view of the fundus with no haze. Mild nuclear sclerotic (NS) changes were noted in both eyes, with mild posterior subcapsular (PSC) changes in the right eye.\nTen months post-operatively, he returned with a 6-week history of blurring of vision worse in the right than in the left eye. His acuity measured counting fingers in the right eye and 20/30 in the left eye, with a dense posterior subcapsular cataract in addition to mild nuclear sclerosis. He had 1+ cells in the anterior chamber and 4+ haze of the vitreous. Given his drop in visual acuity with the progression of cataract in the setting of recurrence of vitreous haze, phacoemulsification was scheduled to get a better view for fundus evaluation. One week later, patient underwent uneventful phacoemulsification with posterior chamber intraocular lens implantation in the right eye, and an aqueous sample was obtained to rule out VRL recurrence. His post-operative visual acuity was 20/40 and a significant haze remained in the right eye. Examination revealed persistent anterior vitreous opacification and cells posterior to the IOL which were well-demonstrated on ASOCT (Figs. , ).\nHe was again scheduled for right pars plana vitrectomy, vitreous biopsy and intravitreal methotrexate injection. The goal was to clear the anterior vitreous which had remained behind the natural lens at the time of the initial vitrectomy. Subsequent biopsy results confirmed that the cells were positive for CD20, MYD88 L265P alteration and Ki-67 immunostaining (which showed high proliferation rate > 90%). Three weeks after his second vitrectomy, his vision was 20/100 with 2+ vitreous cell and mild haze, and the ASOCT of the anterior segment showed that the posterior capsule was still present and that there was resolution of the anterior vitreous cells and opacification (Figs. , ). Four months post-operatively, his visual acuity improved to 20/40 + 1 with a mild epiretinal membrane on macula OCT. |
A 24-year-old man was referred by a primary-care physician to our orthopedic department because of a 4-year history of non-traumatic ulnar-sided pain in the right wrist. The patient was a smoker and worked as a carpenter. He had no other medical conditions and did not use medications. He had no family history of any neurological disease. Physical examination revealed normal findings with no signs of carpal instability or distal radioulnar joint disorders. Tests of sensation and muscle strength were normal. A plain X-ray (antero-posterior and lateral views) of the wrist was normal. Magnetic resonance imaging (MRI) of the right wrist showed edema in the triangular fibrocartilage complex (TFCC). A wrist arthroscopy was done during which a TFCC tear was repaired. An above-elbow cast was applied. One week after the surgery the patient felt pain, described as a burning sensation, in the proximal forearm and noticed that he could not actively flex his right thumb’s IP joint. The pain disappeared after a day. Physical examination of the hand showed total loss of the thumb’s active IP flexion but no other abnormalities.\nMRI did not show any abnormalities involving the FPL. EMG done 2 weeks after the onset of paralysis showed delayed insertion activity in the FPL suggesting possible AIN lesion. A repeat EMG, 2 weeks later, could not confirm AIN lesion, but the examiners reported difficulties in locating the FPL due to the arm cast. At 5 weeks after onset, no improvement had occurred and the treating surgeon decided to proceed to surgery on suspicion of tendon rupture. During surgical exploration, the FPL tendon was found to be intact; exploration and decompression of the AIN was then performed with no abnormalities found.\nA repeat EMG, 6 months after onset, showed denervation activity in the FPL indicating severe axonal loss to the FPL with no reinnervation, grade-2 fibrillation potentials (graded 0–4), and absent motor unit potentials. At 6 months after AIN decompression, no improvement in the thumb’s IP flexion had occurred. A tendon transfer using the flexor digitorum superficialis (FDS) of the ring finger was performed. Physical examination 14 months after onset showed strong active flexion in the right thumb’s IP joint and no other AIN-related symptoms. However, the patient complained of recurrent swelling and pain in the palm and ring finger and subsequently underwent surgery with excision of the remaining part of the FDS, synovectomy and FDP tenolysis.\nSix years after the right-sided episode, the patient presented with symptoms in his left arm. He reported that he had felt pain in the left arm followed by loss of active flexion in the left thumb’s IP joint. Physical examination of the patient’s left hand showed total paralysis of the FPL but normal strength of the index finger and middle finger FDP and thenar muscles. EMG showed denervation activity in the FPL and PQ with no voluntary activity, findings that were interpreted as AIN lesion; all other muscles were normal and NCS of the median and ulnar nerves were normal. The pain gradually subsided. At 9 months after onset, the patient was examined by a hand surgeon at another hospital. The surgeon recorded presence of total FPL paralysis and scheduled the patient for AIN decompression. However, 15 months after onset of paralysis, the patient regained active IP flexion. On examination immediately before the planned surgery, the surgeon found good FPL strength and canceled the surgery. The patient has full strong active flexion and extension in the IP joints of both thumbs (). He was able to return to work as a carpenter but works currently as a truck driver for employment-related non-medical reasons. |
The patient was a 65-year-old man (177 cm, 78 kg). He had a history of right upper lobectomy for adenocarcinoma in the right upper lobe 3 years prior. He was admitted to our hospital for VATS (Video Assisted Thoracic Surgery) S6 segmentectomy for the recurrence cancer. He had no other past history of note, and had no medication before hospitalization. He smoked 1 pack of cigarette per day for 45 years. Preoperative laboratory test showed no abnormality. Preoperative electrocardiogram showed arterial fibrillation for the first time, and intravenous unfractionated heparin infusion started after the hospitalization. Heparin infusion was stopped 6 h before operation.\nVATS S6 segmentectomy was successfully performed with the patient in the left lateral position. Anesthesia was maintained with sevoflurane (1.0–1.5 %) and remifentanil with left one-lung ventilation. After the chest closure, the patient was repositioned to the supine and we stopped sevoflurane administration. Before emergence from anesthesia, massive bleeding started suddenly from the drainage tube placed in the right thorax. The patient’s systolic blood pressure decreased to 30 mmHg and end-tidal CO2 (EtCO2) also decreased from 40 to 10 mmHg. The patient was immediately placed in the head-down position, his head cooled with the ice pack for the cerebral protection, a hemodialysis catheter inserted from his right internal jugular vein for the purpose of rapid transfusion. After the rapid transfusion of crystalloids, hetastarch, and blood products along with inotrope infusions (dopamine and norepinephrine), his systolic blood pressure increased to 60 mmHg but he was hemodynamically unstable. Right pulmonary artery rupture was suspected. Surgeon decided there was urgent need to complete hemostasis and only in the lateral position should the culprit artery be accessible. Then the patient was placed in the left lateral position again for the open chest hemostasis. Left one-lung ventilation was started again, and then his right chest was re-opened.\nAs soon as thoracotomy, his systolic blood pressure fell to 50 mmHg followed by the ventricular fibrillation (VF). The patient’s body temperature was 36.9 °C. Defibrillation (biphasic, 200J) was immediately delivered, but electrocardiogram (ECG) showed asystole and we started CPR. The patient was firmly fixed in the left lateral position and immediate conversion to the supine position for chest compression was impossible. Direct heart compression seemed infeasible because of firmly adhesive right lung and mediastinum. Extracorporeal CPR seemed also infeasible because of firmly fixed lateral positioning. So chest compression by two surgeons started with the patient in the lateral position (Fig. ). One surgeon stood in front of the patient and placed his both palms on patient’s sternum, another surgeon placed his both palms on the patient’s mid-thoracic spine from his back, and chest compression was performed from both sides simultaneously at approximately 100 times per minute. During chest compression, the patient’s arterial pressure waveform appeared sinusoidal in tune with chest compression with systolic value about 35–50 mmHg, and diastolic value about 25–35 mmHg. EtCO2 was 5–20 mmHg. One-lung ventilation was returned to two-lung ventilation. Pulse check was performed every 2 min during CPR and ECG showed asystole every time, and then chest compression by two practitioners was restarted after intravenous bolus infusion of 1 mg epinephrine. The culprit of bleeding was right main pulmonary artery. We also used an auto-transfusion system so as to conserve blood transfusion. After the anastomosis and hemostasis of culprit right pulmonary artery, the waveforms of ECG changed from asystole to VF, and two times of defibrillation (biphasic, 200J) were delivered, which was effective. ECG waveform converted to sinus rhythm and the patient’s pulse became palpable, so we stopped CPR. CPR time was 25 min. During the reminder of the procedure the patient was hemodynamically stable under the high dose of inotrope infusion (epinephrine, norepinephrine, and dopamine). After the final check of hemostasis the patient’s chest was closed and the operation finished. The overview of resuscitation is shown in the Fig. . The patient received 2520 ml of packed red blood cells, 1200 ml of fresh frozen plasma, 200 ml of platelet and 2600 ml of intraoperative blood salvage, in addition to 5350 ml of fluid administration. At the end of surgery, the patient’s body temperature was 35.7 °C. He showed bilateral mydriasis and loss of light reflex.\nThe patient was transferred to ICU intubated and ventilated. All the sedatives were stopped for the neurological evaluation. Three hours after the operation, bilateral light reflex appeared. Approximately 6 h after the operation, the patient regained conscious and responded to verbal commands. No apparent limb paralysis was observed. The patient’s body temperature was kept around 36.0 °C. On the second postoperative day he was extubated. His Glasgow Coma Scale (GCS) score was E4V5M6 at the time of extubation. He was re-intubated on the 5th day of operation due to the deterioration of oxygenation, and underwent tracheostomy on the 7th day of operation. He was enrolled in a pulmonary rehabilitation program, and was successfully weaned from artificial ventilation on the 36th day of operation. His tracheostomy hole healed itself and closed during hospitalization. He was discharged from our hospital on the 60th day of operation without any cardiac and neurological complication. No head CT or MRI scan was performed after the surgery because the patient showed no neurological abnormality. |
A 34 year old Saudi male was diagnosed to have LCH in Damascus, Syria in March 1999. He presented with 6 months history of an occipital mass causing bony destruction and bilateral cervical lymphadenopathy. After receiving 8 cycles of cylophosphomide, vinblastine and prednisone, he had regression of the occipital mass and disappearance of the cervical lymph nodes. Five months later, the patient presented to the medical oncologists at King Faisal Specialist Hospital and Research Centre (KFSH&RC) in Riyadh with progression of his disease in the form of extensive bony involvement. After receiving 2 courses of vinblastine and prednisone in addition to radiotherapy to skull, right parotid, right femur and pelvis, the disease became under control. In February 2002, the patient developed nodular lung lesions and cervical as well as inguinal lymphadenopathy. After confirming relapse of LCH, he received 8 more cycles of prednisone and etoposide, following which the second complete remission (CR) was achieved. On 29/7/2003; the patient had a localized relapse of his LCH as he presented with a new lesion behind the right ear which subsided after receiving 4 cycles of etoposide and prednisone. On 6/1/2004, this lesion increased in size so 2 more cycles of etoposide and prednisone were administered, following which the lesion disappeared. On 27/7/2004, the patient was found to have the third relapse as a new mass appeared in the right external auditory meatus that disappeared after receiving localized radiotherapy. On 6/9/2004, the patient presented with a localized relapse in the form of a tiny swelling involving the right frontal skull bone. An accidental blunt trauma caused rupture of the lesion which healed with scars. On 28/2/2005; the patient was admitted to the leukemia unit at KFSH&RC with low grade pyrexia and anemic symptoms for 2 weeks. Physical examination revealed: pallor, tiny inguinal lymphadenopathy and 2 small dark fleshy lesions, one on the forehead and one in the groin. The chest was clear and cardiovascular examination revealed no murmurs or added heart sounds. There was no abdominal tenderness or palpable organomegaly and neurological examination revealed no abnormality. Full blood count (FBC) showed: WBC: 16.3 × 109/L, Hb: 54 g/L and PLT: 40 × 109/L. Blood film revealed 21% blast cells and dysplastic changes. Bone marrow biopsy (BMB) showed a cellular marrow with 85% myeloblasts without any cytogenetic abnormablity. The renal and hepatic profiles were all within normal limits. After establishing the diagnoses of: therapy-related myelodysplastic syndrome (MDS) transforming into acute myeloid leukaemia (AML) and minimal residual LCH, the patient was commenced on an ICE induction course of chemotherapy composed of idarubicin, cytosine arabinoside and etoposide. Following this treatment, the patient achieved the first CR of his acute leukemia (AL). Meanwhile, an HLA identical sibling donor for allogeneic hematopoietic stem cell transplant (HSCT) was identified. On admission to the HSCT unit on 23/4/2005, the patient was asymptomatic and his physical examination revealed no new abnormality. Blood counts, renal and hepatic profiles were all within normal limits. A pre-allograft BMB showed no evidence of leukemia. The patient received a conditioning protocol composed of busulphan and cyclophosphamide. He was given fluconozole, acyclovir and bactrim as infection prophylaxis and methtrexate and cyclosporine as graft versus host disease (GVHD) prophylaxis. On 3/5/2005; the patient received his allograft without any complication. In the early post-HSCT period, the patient developed grade I mucositis treated with intravenous (IV) morphine infusion and one febrile neutropenic episode treated empirically with IV cefepime. No cytomegalovirus infection, acute GVHD, venoocclusive disease of the liver or hemorhagic cystitis were encountered. The patient engrafted his leucocytes on day +19 HSCT and his platelets on day +12 HSCT. After having a successful allograft, the patient was discharged on day +25 HSCT on cyclosporine, zantac and prophylactic antimicrobials. Thereafter, the patient had regular follow up at the HSCT out patient clinic. One year post-HSCT; he developed chronic GVHD of skin, nails, mouth, eyes and liver. Initially he was treated with prednisone 1 mg/kg/day but as his chronic GVHD became reactivated 5 months later, mycophenolate mofetil and extracorporal photophoresis were given. After achieving a good response to the measures taken, the immunosuppressive therapy was gradually tapered. Then the patient continued to have his regular follow up at the HSCT clinic and no new complication was encountered. |
A 20-year-old male with diabetes mellitus type 1 and a known personal history of CMTX1 presented to our emergency department with acute-onset dysarthria, tongue deviation, left facial weakness, and left hand numbness developing over the course of about 3 h. He described poor sleep, slight nausea, and mildly elevated blood glucose (183 mg/dl on home testing) in the hours prior to symptom onset. He noted no recent fevers, travel, or strenuous physical exercise. By the time of presentation, his numbness had been improving. On examination, the vital signs were normal. Physical exam findings included a lingual dysarthria and subtle left facial weakness in an upper motor neuron pattern. There was normal strength in all extremities except for ankle dorsiflexion graded at 4-/5, which appeared to be his baseline. There was subjectively decreased sensation in the left upper extremity, primarily in the medial forearm, but not in any specific peripheral nerve distribution. Reflexes were diminished in the upper extremities and absent in the lower extremities bilaterally. The intrinsic muscles of the feet appeared atrophic, with hammer toes and high arches. Plantar reflex was absent bilaterally. Serum electrolytes, renal function, liver function tests, complete blood count with differential, erythrocyte sedimentation rate, and C-reactive protein were all normal. MRI of the brain showed symmetric, nonenhancing areas of restricted diffusion in the corona radiata bilaterally, also seen on T2/fluid-attenuated inversion recovery (FLAIR) sequences (fig. ), without edema or mass effect. Intracranial MR angiography was normal.\nA review of the patient's pediatric records revealed that he had experienced two prior episodes of unilateral weakness at ages 13 and 14 years, separated by 10 months. The first episode involved the left side and the later episode the right. Both were of sudden onset but gradual evolution over the course of hours to their peak severity, and each resolved completely over the course of several days. At the time of the first episode, the patient was admitted to the hospital and evaluated with cerebrospinal fluid (CSF) studies and brain MRI. His CSF showed no evidence of infection and was negative for oligoclonal bands, intrathecal immunoglobulin synthesis, and other markers of inflammation. MRI of the brain at that time demonstrated abnormalities in T2/FLAIR and diffusion-weighted MRI sequences in the bilateral centrum semiovale, right parietal lobe, and splenium of the corpus callosum without gadolinium enhancement (fig. ), similar to but more widespread than in the most recent presentation. No immediately precipitating event could be identified including vaccination, infection, or travel. He was initially diagnosed with acute disseminated encephalomyelitis (ADEM) and treated with methylprednisolone. A follow-up MRI 3 months after the initial presentation had demonstrated nearly complete resolution of the lesions (fig. ), and MR spectroscopy obtained 9 months after the initial event was unremarkable.\nThe second episode consisted of right-sided weakness and ataxia and resulted in another hospital admission with repeated imaging. MRI of the brain at this time demonstrated large, nonenhancing T2/FLAIR hyperintensities in the bilateral centrum semiovale, the splenium of the corpus callosum, the left greater than right corticospinal tracts, and the left greater than right cerebellar peduncle (fig. ). The CSF was again bland. A tentative diagnosis of recurrent ADEM was made, and treatment with steroids was provided. The patient again improved quickly and had recovered to his baseline at a 6-month outpatient follow-up.\nFurther evaluation continued in the outpatient setting, with symptoms of peripheral neuropathy becoming apparent. Nerve conduction studies and electromyography demonstrated low amplitude sensory and motor responses with sensory conduction velocities in the 38- to 46-m/s range and motor conduction velocities in the 37- to 54-m/s range. Distal latencies and F-waves were also variably prolonged. The findings were suggestive of a mild-to-moderate sensorimotor polyneuropathy with mixed axonal and demyelinating features. A detailed pedigree of other affected family members revealed that the patient's mother, maternal grandfather, maternal aunt, and a male first cousin (son of the affected aunt) also have neuropathy, although none reported stroke-like episodes. About 2 years after his initial presentation, genetic testing confirmed a T467G (Leu156Arg) hemizygous disease-associated mutation in the gene for Cx2 (GJB1).\nFour years after his initial presentation, after about 3 years free of episodes, a fourth brain MRI was obtained to evaluate the progression of the extensive white matter lesions seen at the time of the second event (fig. ). This study showed a small nonenhancing area of T2/FLAIR hyperintensity in the left cerebellar peduncle, with the previously seen signal in the right cerebellar peduncle, centrum semiovale, and splenium of the corpus callosum all resolved. Three years later, at the time of his most recent episode, the T2/FLAIR hyperintensity in the left cerebellar peduncle had also resolved (fig. ). |
A 61-year-old white Caucasian man with history of KTWS presented with seizures. Our patient had been diagnosed with KTWS at the age of seven after an episode of rectal bleeding. Upon neurological examination, our patient was able to follow commands and move all extremities, and exhibited mild left drift. Left upper and lower extremity hypertrophy, left foot, leg and ear gigantism and left-sided abdominal capillary hemangiomas were noted upon physical examination (Figure A, B, C). A head computerized tomography (CT) scan without contrast was obtained, showing a hypodense lesion with peripheral bleeding in the anteromedial right frontal lobe (Figure ). Cranial magnetic resonance imaging (MRI) showed a heterogeneous lesion in the cingulate gyrus, with peripheral and central areas of T1 hyperintensity and layering T2 hypointensity consistent with the hemorrhage. There was minimal rim enhancement along the inferior margin of the hemorrhage (Figure A, B, C, D). A right parasagittal frontal craniotomy was performed with an interhemispheric approach. A hemorrhagic mass was identified and operative microscopic impression was consistent with malignant intrinsic brain tumor. Although there was no extraordinarily excessive bleeding more than usually seen in high-grade gliomas during resection of the mass, as we resected the mass and reached relatively normal-looking white matter, we encountered more bleeding from the white matter. We had a hard time controlling the bleeding with bipolar electrocautery and finally were able to stop the bleeding with surgicel and gelfoam. Platelets and plasma were transfused during surgery and during the postoperative period. Postoperative cranial CT and MRI scans showed intraparenchymal hemorrhage centered within the medial right frontal lobe (Figure A, B). There was no increase in hematoma size in consecutive CT scans. Our patient did not develop any additional neurologic deficit in his postoperative course. Our patient had rectal bleeding and the colonoscopic data showed bleeding in the distal colon and mid-sigmoid colon. In the surrounding mesentery were numerous nodular and tubular sections of soft tissue with density likely to represent enlarged vasculature and vascular malformations in this area. The process was described to be possibly related to the patient’s KTWS and the marked colonic wall thickening was possibly related to varices and vascular malformations, although it was nonspecific by imaging. Our patient was followed up and treated in line with the recommendations of the hematology and gastroenterology clinics, and he was eventually discharged after his general situation improved. Histopathology was reported as a grade IV astrocytoma. Our patient refused to have any adjunctive treatment and eventually died five months after the surgery due to the progression of his intracranial disease. |
A 55-year-old male patient, known to have a 3-cm hydatid cyst disease of the right lobe of the liver for 3 years was admitted to the emergency department of other peripheral hospital complaining of severe upper abdominal pain of 4-h duration. The pain had lasted for 4 h, started abruptly, and was described as diffuse and sharp. He also suffered from nausea, recurrent vomiting, and general weakness. The patient denied any trauma to the chest or abdomen. In addition, the patient’s background included a history of tobacco smoking, hypertriglyceridemia, and hypercholesterolemia.\nOn physical examination upon his admission, the patient’s vital signs were abnormal, with tachycardia of 125 beats/min and blood pressure of 100/60 mm Hg. An abdominal examination revealed upper abdominal diffuse tenderness with guarding. No abdominal mass was palpated. Digital rectal examination was normal. A complete blood count showed increased white blood cells of 18,000 × 109/L, with 16% band neutrophils. Liver and kidney function tests were within normal limits. A computed tomography (CT) scan of the abdomen and pelvis revealed a 5-cm hypodense cystic mass in segment 6 of the liver and an additional 10-cm polycystic mass in the mesentery of the small intestine with moderate amount of free fluid in the abdomen and pelvis (). The patient was diagnosed with spontaneous intraperitoneal rupture of hepatic hydatid cyst with dissemination into the small-bowel mesentery, and he was transferred to our facility and admitted to the intensive care unit (ICU). Due to unavailability of operating room, conservative management by nil per os (NPO), rigorous intravenous fluids, noradrenaline and anthelminthic treatment by albendazole was initiated until an operating theater become available for surgical management. Few hours following his admission, the patient’s hemodynamic status improved significantly, and he was weaned from noradrenaline support, thus, emergency surgery was cancelled. Four days later, the patient was discharged home in stable condition after ensuing resumption in his oral intake, with recommendation for continuation of oral albendazole (400 mg/twice daily) management for at least 6 weeks.\nA follow-up abdominopelvic CT scan 4 weeks later showed the same findings of right hepatic lobe cyst of 5 cm, multicystic mass of 10 cm at small-bowel mesentery, and a new small cystic mass of 3 cm at the right lower quadrant of the abdomen (). Eight weeks later, the patient was admitted to our surgical department electively in stable condition for laparoscopic resection of the mesenteric cysts and pericystectomy of the hepatic cyst. He was asymptomatic and his physical exam was unremarkable. During the patient’s hospitalization he underwent a laparoscopic surgery in which a 10-cm echinococcal cyst which consisted of a daughter cyst was identified in the abdomen, wrapped in omentum and adhered to the small intestine along with small cyst of 3 cm in diameter at the right lower abdominal cavity. In addition, another echinococcal cyst adhered to the omentum was identified in segment 6 of the liver. A partial pericystectomy of the hydatid cyst in the liver with omentoplasty was performed, following careful cyst aspiration and injection of hypertonic (15%) saline (), along with complete cystectomy of the lesions located in the small-intestine mesentery and right lower quadrant. His post-operative period was uneventful. The patient was discharged home on post-operative day 4, and prescribed albendazole for 1 month. No recurrence or additional pathology was detected on CT of the abdomen and pelvis at the 3-, 6-, and 12-month follow-ups. |
Our patient was a 57-year-old male who complained of weakness and pain in the lower extremities, as well as urinary retention. He had undergone transnasal surgery for ACTH-producing pituitary tumor in 1998. He subsequently experienced repeated episodes of residual tumor growth and underwent multiple sessions of tumor resection and radiotherapy. He developed urinary bladder dysfunction and pain/weakness in the lower extremities without a known cause. With gradual worsening of symptoms, the patient presented to our department on referral in 2009. On admission the physical examination revealed that the femoral nerve stretch test was positive only on the right side, and the straight leg-raising test was positive at 10 degrees for both legs. In the manual muscle test, reduced muscle strength was observed in the left gastrocnemius muscle and left extensor hallucis longus muscle, and a marked decrease in perception was noted in the L4, L5, and S1 regions on both sides. A urethral catheter was in place due to urinary retention. Neurological findings suggested damage to the cauda equina at L4 and lower levels. ACTH level was high at 356.8 pg/mL (). On magnetic resonance imaging (MRI), the signal intensity of the lesion was intermediate on T1-weighted images, low to intermediate on T2-weighted images and intermediate with partially high-intensity areas on short-inversion-time inversion recovery images. On a gadolinium-enhanced image, a neoplastic lesion was observed, whose content was slightly and irregularly enhanced by the contrast medium (). Given a diagnosis of cauda equina syndrome caused by a tumor in the cauda equina, laminectomy at L3-S2 followed by tumor removal was performed. The tumor was identified as an elastic, hard and clearly bordered mass entangled in several cauda equina nerves and encapsulated by a thin membrane. The tumor was detached from the nerves and as much of it was removed as possible. Two tumor masses were excised ().\nOn histopathology, H&E staining showed proliferation of glandular tissue, with little nuclear atypia and no mitosis. On immunostaining, the mindbomb homolog 1 (MIB-1) index was determined to be less than 3%, and tumor cells were strongly stained for ACTH. As the pathological findings was the same as that from the initial surgery, the tumor was diagnosed as distant metastasis of the pituitary adenocarcinoma (). After tumor removal, the increased ACTH level observed preoperatively was normalized (59.6 pg/mL) (). Two years after surgery, although the patient was still experiencing voiding difficulty, the weakness/pain in the lower extremities had disappeared. The patient has had a favorable postoperative course with no local recurrence (). He is being followed closely due to the possibility of new distant metastases with rising levels of ACTH. |
The patient was a 39-year-old woman with a secondary education. She was an only child who had never worked and was living with her family. Since childhood, she had been painfully shy, withdrawn, and easily embarrassed. In school, she avoided contact with her peers due to emotional problems. Her mother played a dominant role in her life, and her parents chose to perform all her duties for her. The patient described herself as completely helpless, incompetent, and subordinate to others. She claimed she was not able to perform the simplest household tasks. The patient was in an informal relationship for several years, but decided not to live with her partner or to formalize the relationship as she did not feel mature enough.\nThe patient had been treated for a few years as a psychiatric outpatient with depressive and anxiety disorders. She reported treatment with citalopram and sulpiride in the prior 6 months. The patient reported sadness, anxiety, apathy, fatigue, and poor functioning, and, due to lack of response to treatment, she was referred to the psychiatric ward. On admission, she was conscious, with a depressive mood and psychomotor slowness. She complained of apathy, lack of motivation, chronic fatigue, weakness, poor physical-exercise tolerance, and deterioration of cognitive functions. In addition, she reported repeatedly occurring palpitations, dizziness, and fainting. In the patient’s opinion, her functioning had been significantly deteriorating for several years. Her first Hamilton Depression Rating Scale (HDRS-17) assessment was 17 points. The severity of depressive symptoms was moderate according to the 10th revision of the International Classification of Diseases criteria. She had broken up with her partner, had become idle at home, could not make simple decisions without consulting her mother and did not leave the house alone. Moreover, she had broken off contact with a few friends and spent her time mostly in the company of her mother.\nAlthough she admitted having had “problems with blood” in the past and was referred to a hematologist, she decided not to undergo the diagnostic process. In the physical examination, skin and conjunctiva pallor were observed, as was tachycardia of 110–120 beats/minute. The results of the neurological examination were normal. A blood cell count showed microcytic anemia: red blood cell count (RBC) 4.2 million cells/mcL, hemoglobin 5.9 g/dL, hematocrit 23.6%, mean corpuscular volume 53 μm3, and iron deficiency 3.4 μmol/L. Thyroid function, vitamin B12, and glucose were normal.\nThe patient was transferred to the internal diseases department, where CD was diagnosed: anti-tissue transglutaminase antibodies were positive (immunoglobulin A =4,04, immunoglobulin G =0,37) and a duodenal biopsy showed increased intraepithelial lymphocytosis, crypt hyperplasia, and villous atrophy (intraepithelial lymphocyte count >40; Marsh 3b). A gluten-free diet and intramuscular iron supplementation were administered, and the patient continued treatment in the psychiatric ward. Magnetic resonance imaging (MRI) of the head showed bilateral, hemispheric white matter, mainly subcortical single uncharacteristic small focus with high signal in T2 and FLAIR sequences without intensification after contrast administration – vascular changes against atherosclerosis, coagulation disorders, or inflammation of blood are possible reasons for this. In addition, symmetric, supratentorial cortical atrophy was seen ().\nSertraline treatment (50 mg/day) was started and blood counts were observed to normalize, as did the mental state and activity of the patient. She began to take care of her appearance and participate in therapeutic activities in hospital. Her interpersonal relationships and functioning also improved.\nTwo neuropsychological assessments were performed – the first just after CD diagnosis and second after 3 months, with the patient in a stable mental state and without anemia. The following tests were used: Wechsler Adult Intelligence Scale – revised, Benton Visual Retention Test, Trail Making Test, Clock Drawing Test, d2 Test, The Rey Complex Figure, Ruff Figural Fluency Test, and the Minnesota Multiphasic Personality Inventory. In the first assessment, impairment of perceptual organization was found. The patient’s global level of intellectual functioning was found to be average (IQ =100). Personality disorders with dependent and avoidant features were described. In the second examination, significant improvements in cognitive functioning (attention and psychomotor speed) were observed. Depressive and anxiety symptoms were persistent but not severe enough to meet the diagnostic criteria for depressive or anxiety disorders. Finally, organic personality disorder was diagnosed.\nSignificant improvements were observed in mental state (HDRS-17 =5 points) and RBC count normalization (RBC 4.42 million cells/mcL, hemoglobin 11.9 g/dL, hematocrit 37.6%, mean corpuscular volume 83 μm3). After discharge from the psychiatric ward, she was referred to a rehabilitation center for individuals with psychiatric disorders, where the patient quickly acclimatized, established relationships with other residents, and met a partner. Progressive improvement in everyday functioning was observed, and the patient was discharged home after a few months’ stay. She still lives with her parents but has taken a job as a cleaner. On her own initiative, she has started a training course to get better and more-interesting employment. |
A 71-year-old woman presented with a three-week history of worsening shortness of breath and dysphagia. Past medical history was significant for hypothyroidism with long term thyroid replacement therapy, COPD, GERD, and hyperlipidemia. Outside hospital records revealed a 2.6 cm left parotid mass and markedly enlarged thyroid gland with circumferential narrowing of the trachea and extensive substernal extension. The patient had been treated there with intravenous steroids with respiratory status improvement.\nPhysical examination revealed middle ear aerated bilaterally, no purulent secretions of the nose, and unremarkable throat exam. A markedly enlarged diffuse thyroid mass was noted extending below the clavicles. CT images () revealed a diffuse thyroid mass extending substernally with tracheal luminal compression to 7 mm, a left necrotic 2.6 cm parotid mass extending into the deep lobe, multiple pulmonary nodules, a pancreatic head mass, and possible serosal implants along the transverse colon. Overall, the findings were concerning for metastatic disease.\nUltrasound-guided fine needle aspiration was obtained from parotid and thyroid masses with preparation of a cell block from parotid mass material as well. Aspirate smears from thyroid and parotid masses appeared similar, composed of poorly differentiated cytologically malignant cells present in dyshesive groups and singly, having enlarged, vesicular nuclei with a thin rim of inconspicuous cytoplasm (Figures , , and ). Background necrosis and groups of infiltrating neutrophils were present. Within the thyroid aspirate, several groups of more cohesive cells were noted with abundant eosinophilic granular cytoplasm and round, regular nuclei, consistent with Hurthle cells (). In other areas, atypical cells formed tridimensional groups suggestive of possible thyroid follicle formation.\nFlow cytometric immunophenotyping was performed on aspirate samples from the thyroid and parotid lesions. Samples were suboptimal, of low viability with limited events available for examination and therefore inconclusive, with 88% of cells failing to express lymphoid marker CD45. However, a small population of CD19+ CD20+ CD5− CD10− CD23− sIg kappa+ cells was detected. The specimen was interpreted as having a minute cellular population suspicious for involvement by a B-cell non-Hodgkin lymphoma involving 1% of the sample.\nCell block specimen from the parotid aspirate was quantitatively limited and contained cytologically malignant single cells in occasional aggregates remarkable for enlarged, vesicular nuclei with prominent nucleoli and scant cytoplasm in a necrotic background with red blood cells and scattered lymphoid cells (). IHC of malignant cells was interpreted as positive for pancytokeratin and PAX8 and negative for TTF-1, CD20, and CD3 (Figures , , and ). The diagnosis of poorly differentiated malignant neoplasm, favor carcinoma, was rendered. Anaplastic thyroid carcinoma was a consideration. Given the clinical presence of pancreatic and lung nodules, it was felt that a neuroendocrine carcinoma was unlikely but not excluded. Additional biopsy material was requested for precise classification.\nOwing to the clinical need for airway relief, an isthmusectomy and nodal tissue sampling was performed yielding multiple portions of pink-tan fibrotic tissue weighing 45 grams and measuring 6.5 cm in greatest aggregate dimension. No grossly recognizable thyroid parenchyma was identified. Microscopic sections revealed thyroid, skeletal muscle, and adipose tissue extensively infiltrated by a high grade malignant neoplasm composed of mononuclear cells with atypical, round to ovoid nuclei, vesicular chromatin, and prominent nucleoli ().\nBrisk mitotic activity and apoptosis were present. Broad areas of confluent tumor necrosis were apparent. A few small islands of recognizable thyroid follicular epithelium with Hurthle cell change were entrapped within the mass and focally associated with neoplastic cells. Malignant cells were immunoreactive with CD45, CD20, PAX5, and PAX8 but failed to express pancytokeratin, CAM5.2, chromogranin, or synaptophysin (Figures , , and ). Rearrangement of MYC gene and t(8; 14) was detected by FISH without rearrangement of BCL2 or BCL6. Ki-67 proliferation rate was greater than 80%. EBV in situ hybridization was negative. The diagnosis of high grade CD20+ large B-cell lymphoma consistent with diffuse large B-cell lymphoma (DLBCL) was made. |
Patient CS, a single 60-year-old male presenting with a history of generalized anxiety with panic, major depressive disorder, and excessive guilt, was referred from a county hospital to a tertiary psychiatric facility for clarification of diagnosis and a more comprehensive assessment. His sister, and the family physician that had been following the patient for the past 4 years, helped provide collateral history. His family noted that he was born with a large head. He had a history of meningitis at the age of 9 or 10 after which it is thought that he developed a non-communicating hydrocephalus. His past psychiatric diagnoses included major depressive disorder, generalized anxiety disorder with panic, personality disorder, and “borderline intelligence.” He had several admissions to a psychiatric ward over the past 3 years for low mood and had been trialed on numerous psychotropic medications (citalopram, lithium carbonate, risperidone, olanzapine, quetiapine, paliperidone, clomipramine, clonazepam, lorazepam) with little effect or benefit. At the time of admission, he did not smoke, drink alcohol, or take illicit drugs. His past medical history was significant for hypothyroidism corrected with the use of thyroxine, bowel resections secondary to possible malignant changes, fatty liver with lobar resection secondary to liver cancer and nephrolithiasis.\nHe was born and raised in Europe until the age of 5, when he immigrated to Canada, and is bilingual. His family reported that he had always had a large head, micropenis, central obesity and short stature. He had a history of being bullied for “looking like a girl” and being different. At school his peers were physically aggressive, hitting him on his head. Born the youngest of seven siblings, he was raised by his parents and lived under their care into adulthood, until both parents passed away—his father had Diabetes Miletus and his mother had a brain tumor. Thereafter, he was taken care of by his sister. He had an older brother who also passed away secondary to a brain malignancy. One brother has dyslipidemia, and two sisters and one brother are healthy. He had no employment history and as a child had always struggled in school, completing a vocational stream of education until grade 10. Socially, he was active in a band for a few years (plays guitar well) and sang in a church choir. However, he never lived independently, and had no romantic relationships.\nInitial assessment revealed that he was a poor historian unable to give an accurate timeline of events. He often expressed fears that he was going to die. He suffered from delusions of guilt that he had caused the deaths of family members. His conversation was repetitive, he repeatedly asked the same questions and restated his fear of dying despite several reassurances. He had no history of self-harm or suicide attempts. On physical examination, he had a wide stance waddling gait, slow movements, limited arm swing and masked facies. He was noted to have enlarged head circumference (62.5 cm) and limited insight into his illness and the need for treatment. His clinical presentation prompted examination with magnetic resonance imagining (MRI) of the brain and formal neuropsychological testing.\nA sagittal T1, axial T2, axial T2 FLAIR and diffusion-weighted images were acquired throughout the brain. Findings indicated a long-standing overt ventriculomegaly, likely due to aqueductal stenosis, with bilateral gross dilation of the lateral and third ventricles, with a small aqueduct and fourth ventricle, with significant thinning of the corpus callosum and overlying cerebral cortex. Vascular flow-voids at the base of the brain were normal and there were no mass lesions, significant sulcal effacement, downward tonsillar herniation or restricted diffusion observed.\nManual segmentation of gray and white matter and cerebrospinal fluid (CSF; Figure ) of high-resolution T1 weighted MRI images was completed with Freeviewer in FSL (Jenkinson et al., ). Automatic segmentation of a comparison group of sex and age matched healthy controls (HCs; one aged 60, three aged 55 years, Table ) was completed with the FreeSurfer () recon tool. The participant’s volumes were converted to Z scores for comparison. Compared to similarly aged control participants, the patient had extremely large ventricular volume (821,452 mm3, Z = 161), reduced white (333,606 mm3, Z = −2.655) and gray (432,184 mm3, Z = −3.07) matter volume, and within normal range total intracranial volume (1,587,242 mm3, Z = 0.57) see Table and Figure .\nThe patient’s neurological exam was unremarkable.\nThe Wechsler Adult Intelligence Scale (WAIS-III; Wechsler, ) revealed a borderline IQ of 79, with a verbal IQ of 88, non-verbal performance IQ of 74, poor working memory IQ of 71, verbal comprehension IQ of 93, and visual-spatial IQ of 80. The patient had difficulty completing tasks requiring working memory, which was in the 3rd percentile, and processing speed was extremely slow (in the 1st percentile). Hopkins Auditory Verbal Learning Test (Brandt, ) indicated severe memory impairment, with initial memory for only a few items, no significant recall between administrations, and inability to recall any information after a brief delay. Rey-Osterrieth Complex Figure Task (Osterrieth, ; Rey et al., ) performance indicated impaired visual spatial and working memory abilities with more attention to small details, missing elements and less attention to the overall image. The Stroop test (Stroop, ) indicated impaired executive function, scoring below the 1st percentile, with a severe inability to suppress automatic responses. |
Our patient is a 30-year-old Ghanaian female who was an unrestrained backseat passenger in a saloon car that was involved in a head-on collision. The patient lost consciousness that lasted for about an hour after the accident. At presentation at the emergency department of the hospital, she had a Glasgow coma score (GCS) of 15/15. The patient sustained frontal scalp hematoma and multiple lacerations on the left lower limb. Her left lower limb was shortened, flexed at the hip, adducted, and internally rotated. Computerized tomography (CT) scan of the brain was normal, and a pelvic X-ray showed posterior dislocation of the left hip associated with femoral head fracture (Figure ). A diagnosed of posterior dislocation of the left hip (Pipkin type 1) was made.\nAn emergent closed reduction under general anesthesia was done within 20 minutes of presentation to the emergency department, but about 3 hours from the time of the injury. There was no associated neurovascular deficit before or after the reduction. Following the reduction, the hip was found to be relatively unstable. Postreduction pelvic X-ray showed an incongruent and widened hip joint (Figure ). A CT scan of the pelvis with 3D reconstruction showed a large femoral head fragment inferior to the fovea centralis that was not anatomically reduced (Figure ). An open anatomical reduction and internal fixation using safe surgical hip dislocation as described by Ganz was done 4 days after the initial. The delay was as a result of unavailability of Herbert screws at the time of presentation.\nThe patient was placed in the right decubitus position and the incision centered over the left greater trochanter (GT), extended 5 cm above and 7 cm below the trochanter. This was followed by splitting of the fascia lata. The leg was internally rotated, bringing the posterior border of the gluteus medius into focus. An incision extending from the posterosuperior margin of the GT to the posterior border of the ridge of the vastus lateralis was done. An oscillating saw was then used to osteotomized the GT (thickness of about 1.5 cm) along the line described above. The GT together with the attached vastus lateralis was mobilized anteriorly after releasing it along the posterior border to the midportion of the gluteus maximus tendon. The vastus lateralis and intermedius were elevated from the lateral and anterior aspect of the femur with the leg flexed and externally rotated. The posterior border of the gluteus medius was retracted anterosuperiorly to reveal the piriformis tendon. The inferior margin of the gluteus minimus was then gently dissected from the piriformis and the joint capsule. The flap involving the gluteus minimus was retracted anterosuperiorly, and with further flexion and external rotation of the hip, the capsule was visualized. A T-shaped anterior capsulotomy was done. The hip was dislocated by flexion and external rotation of the leg. This allowed inspection of the femoral head and acetabulum.\nIntraoperatively, the fragment was found to be viable (viability of the femoral head was confirmed by observing bleeding from the fragment following perforation using a 1.6 mm Kirschner wire); hence, anatomical reduction was done followed by fixation of the fragment using two 2.7 mm subchondral headless cannulated screws (Herbert screws) on the posterio-inferior aspect of the head (Figure ). The labrum was found on inspection to be torn and was repaired using Vicryl 2 suture. The capsule was closed with Vicryl 2. The greater trochanter was fixed using two 3.5 mm cortical screws (Figure ).\nPostoperatively, the patient was allowed to touch weight bearing on crutches for 8 weeks followed by full weight bearing. She was put on 25 mg indomethacin (trice daily for a month) as a prophylaxis against heterotopic ossification. At 1-year follow-up, she had a painless hip with a full range of motion and there was no evidence of AVN of the femoral head (Figure ) or heterotopic ossification. |
A 28-year-old Japanese woman was diagnosed with Sjögren syndrome and systemic lupus erythematosus at the Department of Dermatology of our hospital in 2006, and oral treatment with 20mg of prednisolone was initiated. She felt right coxalgia with no inducer in 2007, and was diagnosed with ION of the right femoral head at our department, but the pain was transient and remitted. Periodic follow-up was continued thereafter, but pain in her right hip joint over the gluteal region started upon sitting for a prolonged time in November 2011. Because the pain gradually aggravated and she became unable to walk, she revisited our department in August of 2012.\nAt her revisit to our department, she felt right coxalgia accompanied by dysbasia, and antalgic claudication was noted. Mild tenderness was noted in the Scarpa triangle, and internal rotation was slightly limited in the range of motion of her right hip joint. The anterior impingement sign was positive but the Patrick sign was negative. Based on the modified Harris hip score (HHS), the score of pain on her right side was 10, and the total score was 20. Plain radiography of her bilateral hip joints demonstrated no collapse of the femoral head. The cross-over sign was positive, and the center-edge (CE) and sharp angles were 29° and 54°, respectively, showing mild acetabular dysplasia and pincer femoroacetabular impingement (FAI; Figure \n). Computed tomography of her hip joint showed that the α angle was 50°, and an osseous change suggesting a cam lesion was not noted in the femoral neck. No irregular joint surface was noted (Figure \n). T1-weighted imaging of magnetic resonance imaging (MRI) showed the band sign, which is the characteristic MRI finding of ION of the femoral head. The MRI findings also demonstrated that the patient had type B of the femoral head according to the Nishii et al. classification and stage 1 of the femoral head according to the Association Research Circulation Osseous classification\n[,]. On MRI T2 short-tau inversion recovery a high intensity was noted in the acetabular labrum, but no bone marrow edema or hydrarthrosis suggesting collapse was present in the necrotic region of the femoral head (Figure \n). A xylocaine test was performed on admission. When 3mL of xylocaine was injected into her right hip joint under fluoroscopy, right coxalgia was alleviated but not completely resolved on the following day, and long-distance walking was difficult due to residual pain while walking.\nBased on the findings that severe coxalgia-inducing dysbasia had developed, but the range of necrosis of the femoral head was narrow, inducing no collapse, the anterior impingement sign was positive, the xylocaine test was positive, and a finding suggesting acetabular labral tear was noted on MRI, the patient was diagnosed with labral tear complicating ION of the femoral head. Although mild acetabular dysplasia was present, because the CE angle was greater than 20° and tear and instability of the acetabular labrum were noted on arthroscopy, we performed labral repair with hip arthroscopy in September 2012.With the patient in a supine position, her lower leg was distracted using an operating table with a distraction system. An anterolateral portal was prepared under fluoroscopy, and arthroscopy was initiated. The anterior labrum was not only sagged like a hammock but also accompanied by cartilage delamination, showing the features of labral tear. A mid-anterior portal was prepared without transecting the articular capsule, and two stiches of suture were applied to the acetabular labrum using an anchor suture. No treatment for a pincer or cam lesion was applied. After suture, the fixability of the acetabular labrum was evaluated using a probe, and it was favorable without abnormal mobility. After sufficient irrigation, the skin incision was subcutaneously sutured and surgery was completed (Figure \n).Active exercise of her right joint started on the day following surgery, and 0.5 and full weight bearing were permitted at 2 and 3 weeks after surgery, respectively. No pain while walking was noted on the final follow-up at 1 year after surgery; she has resumed normal daily activities. No narrowing of the joint space or collapse of the femoral head was noted on plain radiography of her bilateral hip joints at the final follow-up (Figure \n), and the modified HHS had improved to 85 from 20 before surgery. |
A 56-year old female, a homemaker, of body mass index of 23.2 presented to us as a diagnosed case of primary osteoarthritis of the left knee. It was grade 3 osteoarthritis as per the Kellgren-Lawrence Scale. She had received an intra-articular injection of a high molecular weight hyaluronic acid 2 years back which transiently improved pain symptoms. At the end of 1 year from the date of that injection, she received 4 injections of platelet rich plasma (PRP) a month apart each. The last PRP injection was 8 months back. The patient did not have any relief in pain after the PRP injections regimen administered. Throughout the course of the intervention, some prescribed exercises were being performed including strengthening of quadriceps and hamstrings, and stretching of the hamstrings. She was also taking precautionary measures in the activities of daily living. There was, however, very little relief in symptoms. An ultrasound of the knee joint was performed to look for structural changes.[ Distal femoral cartilage thickness at the mid-point of 2 femoral condyles, synovial vascularity, structure of the medial and lateral menisci (echogenicity of cartilage and extrusion from bony margins) were noted by ultrasound. Prior to the intervention, the distal femoral cartilage thickness was 3.94 mm, there were minimal signs of synovial vascularity as seen by color doppler. Both the medial and lateral meniscal cartilages were hypoechogenic. 52% of total width of the medial meniscal cartilage was extruding from the bony margin, whereas 34% of the lateral meniscal cartilage was extruding from the bony margin. In view of inadequate response after 8 months of the last PRP injection, intra-articular injection of adalimumab was planned after taking written informed consent and clearance from the ethics committee at All India Institute of Medical Sciences (AIIMS), New Delhi.\nAn intra-articular injection of 10 mg of Adalimumab was given under ultrasonography-guidance. The procedure was uneventful and the patient did not have any transient discomfort or complications following injection adalimumab. This was ascertained by asking during the period of observation where the patient was requested to stay back for a few hours after the procedure and subsequently also asked during the first follow-up. The patient was put on Tablet Paracetamol 650 mg as per need as rescue medication and post adalimumab injection pill count was on an average 2 tablets per week.\nShe was evaluated using the 11-point visual analog scale (VAS) for pain intensity[ and knee injury & osteoarthritis outcome score (KOOS).[ The patient was followed up at 1 month, 3 months, and at 6 months for VAS and KOOS. Ultrasonographic examination was repeated at the end of 12 weeks and 6 months (refer to Table ). Pre- and post-intervention ultrasonographic findings did not show any change despite significant improvement in symptoms (refer to Fig. ). VAS reduced from 8 (pre-treatment) to 3 at the 1 month follow-up, remained at 3 at the 3 months follow-up and became 4 at the 6 months follow-up. The patient reported that she had noticeable reduction in pain beginning approximately 2 weeks from the date of injection. This was asked at the time of the first follow-up. Total KOOS improved from 32.20 (pre-treatment) to 61.20 at the 1 month follow-up, 60.90 at the 3 months follow-up and 57.50 at the 6 months follow-up (refer to Fig. ). The patient is under routine care in our OPD and has not complained of any deterioration in symptoms A formal evaluation of VAS, KOOS, and ultrasound examination was however not done after 6 months. |
A four-year-old boy presented with a four-month history of recurrent left ear blood and pus discharge, otalgia and fevers. He attended his general practitioner (GP) three times and Paediatric Accident & Emergency 13 times where he received oral, topical and intravenous antibiotics for presumed otitis media and externa. He had no relevant family history. He was eventually referred to the otolaryngology department after 19 months and was listed for an examination under anaesthesia of and excisional biopsy of a suspicious aural polyp 2 weeks after presentation to the otolaryngology department team. Intra-operatively, a large lesion extending from the middle ear through the tympanic membrane and into the external auditory canal was noted which was incompletely resected as only tissue lateral to the tympanic membrane was resected. The lesion was found to be highly vascular.\nHistopathological findings were in keeping with embryonal rhabdomyosarcoma, botryoid subtype. This rare diagnosis required a second opinion from the Histology Department at the Royal Marsden Hospital. Immunochemical staining revealed sheets of rounded tumour cells with scant cytoplasm and inconspicuous nucleoli, which were distinguished by the formation of polypoid and grapelike tumour masses. Malignant cells in an abundant myxoid stroma were observed. Staining was positive for desmin and muscle-specific actin.\nMagnetic resonance imaging (MRI) of the head was performed within two weeks of resection of the tumour, which demonstrated absence of invasion into adjacent organs. Staging chest MRI showed no evidence of metastases and PET scan showed no loco-regional spread or distal metastasis. Bone marrow trephine and CSF were negative. The patient’s haemoglobin levels were borderline anaemic but all routine blood tests were otherwise within normal limits.\nAt 5 weeks after initial presentation he was started on nine cycles of IVA chemotherapy: ifosfamine (3 g/m\n2 on days 1 and 2); vincristine (1.5 mg/m\n2 weekly during the first 7 weeks, then only on day 1 of each cycle); and Dactinomycin (at 1.5 mg/m\n2 on day 1) in three weekly cycles with concomitant radiotherapy.\nTwo weeks subsequent to his first chemotherapy dose he was admitted with neutropenic sepsis and also presented with a House-Brackmann II-III facial nerve palsy but no other middle ear complications. He was started on paediatric doses of intravenous Piperacillin / tazobactam and gentamicin for 5 days as an inpatient prior to being discharged on a paediatric oral dose of ciprofloxacin for the remainder of his chemotherapy course. The facial nerve palsy incompletely resolved to a House-Brackmann I-II with a 2-week course of 3 mg dexamethasone twice daily. He is being followed up on the following schedule: 3–4 months in the first 2–3 years, then twice a year up to the fifth year. Disease free follow-up is 18 months. |
A 60-year-old man in good health visited our rehabilitation clinic complaining of left calf pain. He visited our clinic 10 days after the sudden onset of pain at the left medial aspect of the posterior calf during rigorous steep mountain climbing. In his words, he felt that the onset of left calf pain was like "being hit by a 100-ton train". Under the impression of the possible rupture of the left medial head of the gastrocnemius muscle, US examination was prescribed.\nWith the patient in the prone position, US examination was performed by a clinician who was well trained in using soft tissue ultrasound. The SONOS 4500 (Philips Medical Systems, Andover, MA, USA) US machine and S12 5-12 MHz real-time linear-array transducer (Philips Medical Systems) were used to examine the patient. After careful examination, bilateral symmetrical sonographic findings of the calf muscles were noted without evidence of muscle ruptures. Roentgenogram of the left lower limb did not reveal any evidence of bony fractures.\nThe patient returned to the clinic one week later complaining that the pain in his left calf area persisted and could be further aggravated by tiptoeing and weight bearing maneuvers. Again, US examination in the prone position did not reveal any abnormal sonographic findings.\nAfter two normal sonographic findings in the prone position, the examiner tried a different approach. The patient was placed in the supine position with his knees flexed at 90 degrees (Figure ). The transducer was then placed pointing upwards to examine the muscles. An area of well-defined anechoic fluid collection with hypoechoic surroundings was noted (see Figure ). Under US guidance, a 21-gauge needle was inserted into the fluid collection area and 15 ml of serosanguinous fluid was aspirated (Figure ). Dramatic pain relief was noted after aspiration. An elastic stocking was applied to his left calf area after aspiration and follow-up two weeks later did not reveal further fluid accumulations. |
A 51-year-old, gravida 1, para 1, Japanese female complained of abnormal genital bleeding for two months and presented to a clinic. An ovarian tumor was found during abdominal computed tomography (CT), and so the patient was referred to our hospital. The abnormal genital bleeding had stopped when she visited our hospital. An ultrasound scan of her right ovary revealed a swollen region of 7 cm in diameter, which contained multiple cysts, and the uterine endometrium was 9-mm-thick. Cervical cytology and an endometrial biopsy produced normal findings.\nOn magnetic resonance imaging (MRI), an ovarian tumor, which measured 7 cm in diameter and contained multiple cysts, was detected, and a large part of the tumor exhibited high signal intensity on T1-weighted imaging and low signal intensity on T2-weighted imaging. No solid components were detected (). We decided to perform a laparoscopic right salpingo-oophorectomy. The patient’s medical history included endometriosis from the age of 25 without specific therapy and subarachnoid hemorrhaging due to the rupturing of an aneurysm at the age of 43. The patient was diagnosed with hydrocephalus after she underwent surgery for the subarachnoid hemorrhaging, and an LP shunt was inserted. Her medical history also included kidney stones, schizophrenia, hypertension, and diabetes mellitus at the age of 50. We confirmed the route of the LP shunt on a CT scan, which had been conducted at another clinic. It revealed that the LP shunt had been placed from her left flank to Douglas’ pouch (). Under general anesthesia, laparoscopic right adnexectomy was performed. A 12-mm trocar was inserted at the umbilicus, and three 5-mm trocars were inserted 3 cm inside the right and left upper anterior iliac crests and on the midline of the lower abdomen. The abdominal pressure was set at 8 mmHg. The ovarian tumor was located in Douglas’ pouch and had adhered to the back of the uterus. Also, the head of the shunt tube was located in Douglas’ pouch and was an obstacle to the operation. We temporarily shifted the head of the shunt tube from Douglas’ pouch to the vesicouterine pouch to prevent damage to the shunt and ensure that the operation could be conducted smoothly (). The operation time was 2 h and 11 min, and the total volume of intraoperative blood loss was 50 ml. The patient’s postoperative course was uneventful, and she was discharged on postoperative day 3. The histological diagnosis was an endometriotic cyst. The patient was examined at 1 month after the surgery at our hospital’s outpatient clinic, and no adverse events were observed. She was followed-up at the outpatient clinic of a general practitioner. |
The patient was a 74-year-old man who was examined for the major complaint of swelling in the right neck. His medical history included pneumonia and sensorineural hearing loss, but no family history of note was elicited. He had smoked 40 cigarettes a day until 32 years old. He had first noted swelling of the right neck 5 years earlier, and had been referred to our department in April 2016 after noticing a growing tendency. Pharyngolaryngeal endoscopy had revealed swelling of the lateral wall on the right side of the oropharynx. On cervicothoracic contrast-enhanced computerized tomography (CT), a mass with a maximum diameter of 24 mm was noted in the lateral wall of the right oropharynx, but no infiltration into the parapharyngeal space or epiglottis was seen. Swelling was also observed in the right upper and middle deep neck lymph nodes and the right node of Rouviere. In blood biochemistry, a squamous cell carcinoma-related antigen was elevated to 2.8 ng/mL. Biopsy of the right oropharynx lateral wall revealed p40-and p16-positive squamous cell carcinoma. The diagnosis was T2N2bM0 stage IVA oropharyngeal carcinoma of the right lateral wall. The treatment plan was to manage the disease through induction chemotherapy with TPF. As induction chemotherapy, CDDP and DOC were both administered at 60 mg/m2 on day 1 and 5-FU at 600 mg/m2 from day 1 to day 5. Daily urine volume was ≥3,000 mL. Although bodyweight decreased day by day from day 4, compared to before the start of chemotherapy, no deterioration in patient condition had been seen; so, we kept the patient under observation with particular attention to vital signs. On day 8, neutrophil count had dropped to 2250/μL and blood pressure fell to 70/50 mmHg. However, as no fever was evident, febrile neutropenia was ruled out. As fluid balance continued to be negative each day, we conducted fluid replacement for extracellular fluids to prevent dehydration. The diarrhea that appeared was considered to be drug-induced colitis due to 5-FU, and symptomatic treatment was initiated. On day 9, he showed a fever of 38.0°C, and neutrophil count had decreased to 212/μL. Febrile neutropenia was diagnosed, and administration of cefepime (CFPM), an antibacterial agent, and a granulocyte colony-stimulating factor (G-CSF) agent was commenced. However, 3 h later, the patient lost consciousness and blood pressure fell to 50/40 mmHg. Septic shock was diagnosed, and he was transferred to the Intensive Care Unit (ICU). Treatment of the septic shock according to early goal-directed therapy was combined with continuous hemodiafiltration and polymyxin B-immobilized fiber column hemoperfusion. As nausea and marked abdominal distension were present, contrast-enhanced CT of the abdomen was conducted (Figures and ). While a decrease in contrast effect was observed in the small intestine wall, no prominent thrombosis of the mesenteric artery or veins was observed, so NOMI was considered. In consultation with our gastrointestinal surgery department, conservative therapy was considered problematic, and the decision was made to conduct emergency surgery. Partial resection of the small intestine was performed and an ileostomy was created. Numerous ischemic locations were seen in the small intestine, and about 1 m of the intestine was resected (). No intestinal perforation or intraperitoneal contamination was observed. Postoperative pathological examination showed necrosis in the intestinal wall but no organic blockage or blood clots in the mesenteric artery.\nOn day 2 after surgery, the shock abated. On day 12, the patient was returned to the general ward from the ICU. Contrast-enhanced CT of the neck on postoperative day 15 showed partial response of the oropharyngeal carcinoma. As additional chemotherapy was considered problematic, treatment with cetuximab was conducted in combination with radiotherapy. Both the primary cancer and neck lymph node lesions subsequently disappeared. After half a year, the ileostomy was closed off. In the 9 months following the completion of treatment, no recurrence or metastasis was observed. |
Patient B was a 37-year old male of Turkish descent referred for immunological investigation by the treating nephrologists because of IgM deficiency. Asymptomatic renal insufficiency was detected at the age of 28 years when a cirrhosis of the left kidney and mild hydronephrosis of the right kidney were found. Serum creatinine was 3.2 mg/dl (normal range 0.6–1.2 mg/dl), proteinuria was 2.5 g/d. He reported no increased susceptibility to infections, and his chronic renal insufficiency caused only mild clinical symptoms (development of fatigue and tachycardia upon physical strain).\nThe mRNAs encoding the membrane-bound and secreted immunoglobulin heavy chains are produced from identical primary transcripts, which are differently processed at their 3′ ends. Regulation of membrane-bound vs. secreted forms of the immunoglobulin heavy chains depends on the competition of 2 mutual cleavage polyadenylation sites (pAs/pAm) (). In mice targeted deletion of the mu heavy chain cleavage polyadenylation site pAs leads to deficiency of secreted IgM with intact expression of surface IgM and normal secretion of other immunoglobulin isotypes (). Therefore, we sequenced mu heavy chain gene including the polyadenylation sites in both patients with sIgMD and found no alterations (data not shown). Both patients' B cells were able to express precursor, secreted and membrane IgM mRNA (Figure ). Furthermore protein expression of monomeric and native pentameric IgM (Figure ) and surface expression of IgM on the B cell membrane (data not shown) was comparable to healthy controls.\nTo elucidate the genetic basis of the patients' selective IgM deficiency we used a targeted resequencing approach to sequence potential candidate genes. In both patients, we identified defects within the intrinsic B-cell receptor signaling pathway. Patient A harbored a c615G > T missense mutation in exon 8 in the tyrosine kinase BTK. The G > T transition resulted in a glutamic acid to aspartic acid substitution at position 205 within the highly conserved proline-rich (PRR) region located at the C-terminus of the TEC homology (TH) domain (Figures ). Proline rich regions are involved in protein-protein interactions, including interactions with G proteins and intramolecular association with the SH3 domain (). Mutations within the proline rich regions have been shown to abolish SH3 domain binding and result in functional impairment of BTK, pointing toward a potential biologic relevance of the BTK mutation found in patient A (). |
A 36-year-old woman had an invasive pancreatic neuroendocrine tumor removed by means of body and distal pancreatectomy, splenectomy, partial gastrectomy, and transversal colectomy. One-year later, multiple liver metastases were detected in both lobes. At that moment, she had chronic malnutrition despite adequate pancreatic enzyme supplementation and a Trousseau syndrome was also diagnosed. Chronic malnutrition was attributed to a combination of pancreatic insufficiency and a potential hormone-related paraneoplastic syndrome. Systemic chemotherapy with 5-fluorouracil and streptozotocin followed by transarterial bland embolization were performed, and an objective durable remission was achieved. Seven years later, liver progression was detected, restricted mostly to the right lobe. Her performance status was ECOG 1 but she had a BMI of 13.7 kg/m2 due to worsened chronic malnutrition. A left pleural effusion was also observed but no malignant cells were detected on fluid cytology. A right-lobe transarterial radioembolization (TARE) was uneventfully performed. The lung shunt fraction in the macroaggregated albumin scan performed during the TARE workup was 6.4%. The response to TARE was short lived and 9 months later liver disease progressed. The multidisciplinary team recommendation was to start Sorafenib as a special indication under informed consent instead of Sunitinib due to her profound asthenia. The dose used was progressively increased from 400 mg to 600 mg daily with good tolerability and no side effects. Two months later a thoracic CT showed a small pleural effusion in left side and ground glass in left lower lobe. Four months after initiating Sorafenib an abdominal and thoracic CT showed a lung cavity in the left upper lobe (Figure ). The patient had no respiratory symptoms.\nA bronchoscopy was performed with no macroscopic findings. No malignant cells were observed on cytology of a bronchioalveolar lavage (BAL) and microbiologic cultures were negative. Sorafenib was discontinued after 4 months of treatment. Repeated CT scans performed one and three month after discontinuing Sorafenib showed a reduction in the size of the pneumatocele (Figure ). Sorafenib was not reintroduced and the patient died 4 years after the pneumatocele was diagnosed due to tumor progression. |
An 86-year-old Japanese male with a history of prostate cancer and cerebral infarction presented to our urology outpatient clinic. He was taking an oral anticoagulant (100 mg of cilostazol) once a day. He received external beam radiation therapy (EBRT) by means of a 4-field technique. A cumulative dose of 60 Gy in 30 fractions was delivered over a period of 5 weeks. There was no neoadjuvant and adjuvant maximum androgen blockade or chemotherapy (prostate specific antigen 8.7, Gleason score 4 + 4, cT2a) in 2001. Neither recurrence nor metastasis was detected in the following 11-year period. In the follow-up period, his PSA level was about 0.10 ng/dl.\nThe patient presented to a local outpatient clinic with the chief complaint of intermittent gross hematuria that had lasted for 2 months. Bladder irrigation was performed, and his urine became clear. However, 5 days later, he presented to our hospital complaining of gross hematuria and clot retention.\nHe did not have lower urinary tract symptoms, fever, nausea, chills, flank pain, or weight loss. However, lower abdominal distention was noted at this time. On physical examination, his eyes were anemic, but otherwise, the examination was unremarkable. Laboratory data showed marked anemia with a hemoglobin level of 7.1 mg/dl. Other data, including liver function tests and coagulation studies, were within normal limits. Abdominal ultrasonography showed clots in the bladder. He was immediately admitted to our hospital and taken off cilostazol. After insertion of a transurethral catheter, bladder irrigation was performed to remove the clots. Continuous bladder irrigation was then started, and 4 units of component blood transfusion were administered. The findings suggested the presence of bladder cancer and radiation cystitis or stone-related disease as a differential diagnosis. Cystoscopic examination was performed to determine the cause of the hematuria and revealed irregularity of the mucosa on the posterior wall and a papillary tumor with active bleeding on the left side of the posterior wall. MRI revealed non-muscle invasive bladder cancer (fig. ).\nWe performed transurethral resection of the bladder tumor (TURBT). A nodular tumor was found on the posterior wall (fig. ). The trigon, neck and two lesions in the posterior wall were reddish, which was compatible with radiation-induced cystitis. Bilateral orifices were not involved and had clear efflux of urine. There were no other notable lesions. The tumor along the posterior wall and the reddish lesion were resected and coagulated. Urine cytology was negative for bladder cancer before and after TURBT. Pathological diagnosis revealed urothelial carcinoma, G2, pTa (fig. ).\nAfter TURBT, the patient's gross hematuria resolved. The Foley catheter was removed on postoperative day 6. The patient was discharged and cilostazol administration was resumed. He is still being followed-up and there has been no recurrence of the hematuria or bladder cancer in the 12 months since TURBT. |
The patient is a premenarchal, 6-year-old female who presented to the emergency department (ED) with her mother because of mild discomfort with urination and “pimples” causing pain in the vaginal area. The patient was previously healthy and denied increased urinary frequency or urgency, vaginal bleeding, vaginal discharge, malaise, and fever. The patient and her mother denied inappropriate contact or touching. On physical examination, the patient was comfortable, smiling, and playful. The external pelvic examination was notable for multiple raised lesions on the labia minora and erythema of the external genitalia. No vesicles or vaginal discharge were observed. At the ED, a clinical diagnosis of genital warts was made.\nSocial Work and the Department of Child Protection and Permanency were contacted. The patient and her mother were referred to a state-designated child protection center that provides crisis intervention and child abuse assessments. At the state-designated child protection center, a team of trained professionals conducted an evaluation and was able to ascertain a history of abuse from the patient by an adult, male family member living in the household. The center conducted a thorough physical examination and infection screening.\nTwo months after initial presentation and evaluation at the child protection center, the patient's symptoms worsened secondary to an increase in the size of the lesion. The patient was able to urinate but unable to sleep at night secondary to pain and irritation caused by rubbing. On examination, the patient had warts in the vestibule that carpeted the space between the labia minora and fourchette, obliterated the vaginal introitus, and appeared to obscure the urethra.\nThe patient then underwent an exam under anesthesia (EUA) and excision of vaginal lesions, as seen in , in the lithotomy position by pediatric surgery and the gynecological team. Direct visualization of the area, without use of a hysteroscope, did not reveal any gross internal vaginal lesions. A sterile urinary catheter was placed. The condylomas were removed using smooth pickups and Metzenbaum scissors with careful visualization of the urethra, as in . First, a 2 cm area of condyloma at the inferior portion of the vaginal introitus was removed. A second 2-3 cm lesion around the urethral meatus and third small lesion of the right labia minor were excised. Hemostasis was achieved with pressure and Surgiflo at the excision sites. A Vaginal ThinPrep Pap Test was performed and resulted in HPV 18 positive and low grade squamous intraepithelial lesion (LSIL) including cellular changes associated with HPV and cervical intraepithelial neoplasia I (CIN I). The surgical pathology consisted of red-tan, glistening, soft tissue that measured 1.2 × 1 × 0.4 cm when aggregated and was determined to be condyloma acuminatum. The patient was awakened from anesthesia and brought to the recovery room in stable condition.\nAt the postoperative follow-up visit, the mother and patient reported a smooth recovery with minimal pain. Exam of the surgical site in the supine frog-leg position showed that it was well healed with minimal residual disease. The patient was instructed to follow up with gynecology every 6 months and with pediatric surgery as needed. Given this patient falls outside CDC guidelines for vaccination and her pathology results, we plan to recommend HPV vaccination at the patient's next visit [, ]. |
A three-year-old male bear (bear-02), which was managed by the reintroduction program of ABB, was rescued from a traffic accident on the May 11, 2018 (bear-02 moved to the mountains after the collision with a bus on the 5th of May and we were able to capture him on the 11th of May). When captured, the animal weighed 110 kg and seemed to have a fracture of the left humerus. This bear was transferred to the same veterinary team and a non-reducible comminuted fracture of the left humerus was confirmed radiographically (Fig. a). Blood examinations revealed increased white blood cells, AST, and C-reactive protein. On the 17th of May (12 days after the accident), preoperative radiographs of both the injured and the contralateral humerus were obtained. From these radiographs, a plate of the appropriate length was selected in an attempt to span the entire length of the humerus. Immobilization and monitoring of vital signs were followed by the same procedures used for bear-01. Bear-02 was placed in a supine position and we approached laterally for the surgery. A longitudinal skin incision was made from the center of the deltoid insertion to the lateral epicondyle, and the lateral head of the triceps was exposed by the insertion of the brachial fascia. The humerus was exposed by elevation of the brachialis and triceps from the lateral intramuscular septum. We tried to remove a bone fragment that was lodged in the deep medial head of the triceps and repair the alignment of the humerus; however, it was impossible because of the exuberant granulations and muscular contraction. Thus, we only cut the sharp edge of the broken humerus using an electric surgical saw (BH 100S, IMEDICOM, Gunpo, South Korea) without removal of the bone fragment and then we repaired the alignment of the humerus. Then, a 10 holes’ 5.0 locking compression plate (LCP; APIS 157–18,110, TDM, Inc., Gwangju, South Korea) with 10 locking head screws (32 mm, 1; 34 mm, 1; 36 mm, 3; 38 mm, 1; 40 mm, 2; 48 mm, 2) and a 10 holes’ 4.0 LCP (APIS 194–10,310, TDM, Inc., Gwangju, South Korea) with 5 locking head screws (26 mm, 36 mm, 38 mm, 40 mm and 42 mm) were used for double-plate fixation (anterior and lateral surfaces of the humerus), respectively (Fig. ). In addition, autologous bone chips (the pieces cut from the edge of fractured humerus by surgical saw were crushed in a mortar), synthetic hydroxyapatite, and recombinant human bone morphogenetic protein-2 (rhBMP-2; NOVISIS®, CGBIO, Inc., Seungnam, South Korea) were mixed according to the manufacturer’s manual and it was filled in the bone defect areas. The muscles and soft tissue were sutured continuously with 2–0 polyglyconate (Covidien Maxon sutures, Covidien, Dublin, Ireland) and the skin was closed with a skin stapler (Appose ULC 35 W, Medtronic, Minneapolis, MN, USA). Total surgery time was 405 min and the duration of anesthesia was 479 min. All parameters for anesthetic evaluation during the surgery were within normal ranges (mean respiratory rate, 13.5 ± 2.1 breaths/min; mean heart rate, 78.6 ± 25.6 beats/min; mean rectal temperature, 36.4 ± 0.5 °C; mean blood pressure, 113.1 ± 23.8 mmHg; mean SpO2, 97.9 ± 4.5%; mean ETCO2, 35.1 ± 4.7%). Medication during and after the surgery and the post-operative management were the same as those used for bear-01, except as indicated below. Postoperatively, bear-02 recovered in a metal holding cage (220 × 80 × 120 cm) for 48 days and radiographs were acquired on the 21st, 34th, and 48th days after the surgery (Fig. ). During this period, we confirmed the formation of a callus and an increasing density of the fracture line. Thus, on the 5th of July (48 days after the surgery), we moved bear-02 to the indoor room (3 × 4 × 3 m) for light exercise, where it recovered for 26 days. While staying in the indoor room, we acquired radiographs (on the 62nd day after the surgery) and confirmed complete healing of the fracture areas (Fig. ). Bear-02 showed no abnormal walking, and we determined that the bear needed more free and vigorous exercise. Consequently, on the 2nd of August (74 days after surgery), we moved the animal to the outdoor enclosure in the forest for rehabilitation, and the animal stayed there another 25 days. During its stay there, the bear walked up and down the slope naturally and climbed up and down a tree easily (Fig. c). Additionally, the bear’s behavior was evaluated in the same way by the same observers for bear-01, and bear-02 showed similar behaviors as bear-01 (active human avoidance, does not try to get through the electric fence to enter the inside where the food is (Fig. b) after imprinting of the electric fence). Thus, on the 27th of August, 2018 (99 days after the surgery), we released it, after fitting a radio transmitter (M3620, ATS, Isanti, MN, USA) into Mt. Sudo, Kyoungbuk province; post-release monitoring and analysis were performed as that for bear-01. During the study, we obtained 465 locations and mean DMD, 95% MCP, 95 and 50% kernel home ranges for the first 30 days after releasing were 2.9 ± 2.1 km, 36.9 km2, 170.6 km2, and 40.5 km2, respectively (Table ). Additionally, those in autumn 2018 were 1.9 ± 1.7 km, 106.7 km2, 215.8 km2, and 59.2 km2, respectively (Table ), and bear-02 hibernated from the 27th of December 2018 until the 3rd of March 2019. During hibernation, we visited at its den site by radio-tracking and immobilized the bear there using a dart gun to replace the transmitter because of the battery’s abnormal exhaustion, and its weight was 143 kg. The mean DMD, seasonal, and annual home ranges in 2019 are shown in Table , and when bear-02 was captured, on the 27th of February 2020, during the 2nd hibernation after returning to nature, its weight was 165 kg. The veterinary examination including blood chemistry and CBC in those two captures found no abnormal findings. |
A 71-year-old retired lawyer who was a known diabetic, hypertensive, heavy smoker with coronary artery disease, renal failure, and benign prostate hypertrophy (on tamsulosin) had a chronically infected sternal wound with an indwelling catheter after coronary artery bypass surgery 6 months before presentation to the eye clinic. Repeated medical attempts at sterilizing the sternal wound failed, with accompanying irreversible antibiotic nephropathy. He presented with severe visual loss to counting fingers with dense nuclear sclerosis and posterior subcapsular cataract bilaterally. The patient accepted the risks of postoperative infection as previously detailed by the infectious diseases team. The patient underwent phacoemulsification of the right eye under topical anesthesia with xylocaine gel and without instillation of topical povidone iodine (because of dry eye, risk of epithelial toxicity, and loss of clarity during surgery)., Special attention was paid to creating elongated, three-plane, self-sealing limbal tracts. The patient did not receive intracameral antibiotics or oral antibiotics because of recent antibiotic nephrotoxicity. The eye patch was placed for 1 hour and removed to allow topical therapy. He was put on topical moxifloxacin and a combination of netilmicin sulfate 0.3% with dexamethasone phosphate 0.1% drops. The drops were administered hourly on the day of surgery with taper thereafter, as in the first case. Vision in the right eye recovered to 6/6. One month later, the patient underwent phacoemulsification of the left eye with 4.5 mm anterior capsulorhexis. The foldable implant was placed in the bag under balanced salt irrigation. Excess pressure was exerted at 6 o’clock (in order to engage the superior haptic) in a thinned out capsular bag, leading to localized capsular rupture with no vitreous loss. The implant was centered intraoperatively and slowly started decentering inferiorly. He received the same topical regimen as for the right eye. Two months later, a secondary anterior chamber intraocular lens was implanted with the help of viscoelastic material (under topical anesthesia with xylocaine gel and without topical povidone iodine). Upon aspiration of the viscoelastic material, no vitreous was noted in the anterior chamber. Suturing of the three-plane, temporal 6 mm limbal incision was done with 10-0 nylon, ensuring a tight wound. The same regimen of topical drops allowed good visual recovery with no signs of inflammation on close observation (examination every 2 days) in the early postoperative period. Six weeks after the last surgery, uncorrected visual acuity was 6/12 in the left eye. |
A 65-year-old Chinese male resident of Guatemala presented with a 5-month history of distal symmetric arthritis and generalized fatigue. The patient described an insidious onset of pain, persistent stiffness, and joint swelling affecting the metacarpophalangeal and proximal interphalangeal joints, shoulders, knees, ankles, and feet in a symmetric fashion. This was associated with night sweats and chills but no fever. He endorsed weight loss yet denied any loss of appetite or change in diet. The patient initially self-administered oral acetaminophen and nonsteroidal anti-inflammatories with minimal improvement. Laboratory investigations of his constitutional symptoms were largely unremarkable. There was no anemia or leukocytosis on complete blood count with serum creatinine, serum electrolytes, and serum lactate dehydrogenase being within reference range. No bacterial growth was detected from blood cultures drawn. Further workup including colonoscopy and CT abdomen did not identify any other underlying etiology for his symptoms. He was evaluated by several rheumatologists with serology being negative for rheumatoid factor (RF). He was subsequently treated with low-dose prednisone with no improvement. The patient was maintained on oral hydroxychloroquine with no improvement as well.\nAround two months prior to presentation in Guatemala, the patient had a fever up to 39°C associated with headache and neck and back pain which resolved spontaneously. This occurred soon after a mosquito bite. He had a concurrent transient skin rash over the medial thigh that resolved (around) three days after the mosquito bite. He was evaluated and investigated by an infectious disease physician and was found to be positive for chikungunya IgM.\nOn evaluation at our institution the patient had bilateral symmetric synovial swelling of the metacarpophalangeal and proximal interphalangeal joints together with mild wrist and ankle swelling with overlying warmth but no erythema. Joint pain was reproducible with knee flexion and radiocarpal joint mobilization in all directions of movement. Cardiorespiratory examination was otherwise benign and no focal neurologic deficits were elicited.\nLaboratory studies showed microcytic anemia with a hemoglobin of 10.2 g/dL (13.5–17.5 g/dL), hematocrit 32.0% (38.8–50.0%), and low MCV of 65.9 fL (81.2–95.1 fL). His serum ferritin was high at 2732 mcg/L (24–336 mcg/L) with an erythrocyte sedimentation rate at 74 mm/hr (0–22 mm/hr) and C-reactive protein 138.5 mg/L (<7.0 mg/L). Immunologic testing was negative for rheumatoid factor, anticyclic citrullinated peptide (anti-CCP) antibodies, and antinuclear antibodies.\nThe patient's presentation was congruent with a symmetric inflammatory arthritis mimicking a clinical presentation of seronegative rheumatic arthritis. |
A 47-year-old woman presented to our clinic and complained of a left upper eyelid lesion that had increased slowly in size over the past three years. The lesion was 1.0 cm in size. It was round shaped, circumscribed elevated and had brown pigmented color (Figure 1 ). The appearance was typical of a seborrheic keratosis. Her visual acuity and eyelid movements were normal.\nThe procedure is performed under local anesthesia with intravenous sedation and magnification. Upper eyelid tumor is marked with 2 mm margin. A line is drawn on the eyelid at the level of the lid crease. Then, the advancement flap of the anterior lamella is outlined with two Burow’s triangles marked for excision, one triangle medial or lateral to the defect and the second diagonal to the first, above the lid crease (Figure 2 ). An incision is then made through the skin and the subcutaneous tissue of the lesion. The lesion was excised with a 2 mm free margin. The triangles’ boundaries are cut with a scalpel, dissected, and mobilized with blunt scissors (Figure 3A ). The subcutaneous tissue at the edges of the defect is undermined in the subdermal plane to minimize the tension at the suture lines. An advancement flap of the skin and orbicularis of the upper eyelid was undermined, elevated, and advanced inferiorly over the defect (Figure 3B ). Interrupted buried 6/0 nylon sutures are used to approximate the dermis and subcutaneous tissue and close the defect completely (Figure 4 ). Topical antibiotic ointment is applied twice daily for 7 days. The sutures are removed in 10 days. Histopathological examination of the tumor revealed seborrheic keratosis and confirmed that the margin was free of tumor. The patient has been followed up for six months with no evidence of recurrence and has no concerns with eyelid function. Moreover, this treatment produces good aesthetic results (Figure 5 ) and increased patient satisfaction. |
A 66-year-old female patient with a history of bilateral lower limb lymphedema reported the aggravation of the condition over the years, reaching stage III (elephantiasis). The patient was sent to the Godoy Clinic and reported having undergone several treatments throughout her life as well as several episodes of erysipelas. She did not marry due to the lymphedema and complained of the frequent occurrence of strangers staring at her leg, which upset her. The physical examination confirmed elephantiasis. The circumference of the left lower limb was 106 cm. Her body weight was 106 kilograms, height was 160 cm, and the body mass index (BMI) was 41.6 kg/m2 ().\nThe patient was submitted to intensive treatment for three weeks, which led to a 21 kg reduction in weight and 66 cm reduction in leg circumference ().\nIntensive treatment with the Godoy Method consisted of eight hours per day of mechanical lymphatic drainage, 15 minutes of simultaneous cervical lymphatic therapy, and hand-crafted compression stockings made from grosgrain fabric. Mechanical lymphatic therapy consisted of an electromechanical device that performs plantar flexion and extension. After three weeks of intensive therapy, the patient continued treatment at home using the compression stockings. At the follow-up evaluation, the patient was submitted to electrical bioimpedance analysis as well as circumference measurements and volumetry. The bioimpedance analysis revealed a pattern of normality, with the reduction in lymphedema. Ten years after treatment, the patient has maintained the results with the compression stockings. In occupational therapy throughout this period, the patient has been encouraged to perform activities that she has always wanted to do to improve her wellbeing. She took up belly dancing, followed by tap dancing. She reports that these activities changed her life and she is very happy for being able to realize her dream of dancing, which is an activity that she began at the age of 76 years. The study was approving Ethical Committee of Medicine School of Sao Jose do Rio Preto# 2.929.115. |
A 25-year-old right-handed Ethiopian man presented with a 2-year history of generalized weakness and wasting of his face, hands and feet. He often complained of stiffness and had difficulty in releasing his grip, as following a hand shake. He also has slow and difficult swallowing, and excessive daytime sleepiness. There was no history of fever, neck stiffness, ear discharge, or trauma. He had been on treatment for idiopathic generalized epilepsy (IGE) for over 15 years, and was admitted for an episode of severe pneumonia in the preceding month. His family history is positive for DM in his mother and younger brother, and IGE in his elder brother. There was no past history of diabetes, hypertension, pulmonary tuberculosis, syphilis, alcohol or tobacco intake, or other substance abuse.\nHe was thin built and without anemia, jaundice, or cyanosis. His cortical functions were normal. His speech was nasal. His face was long and narrow with hollowed cheeks and sagging jaw, and frontal baldness. His masseter, pterygoid and temporalis muscles were weak bilaterally. He had no cataract. Intrinsic muscles of his hand, muscles of his distal forearm, and ankle dorsiflexors were moderately weak and atrophied on both sides. There were clinical hand grip and percussion myotonia. His superficial and muscle stretch reflexes were normal. His primary and cortical sensations were normal. His gait was high stepping. The result of examination of his other system organs was normal.\nThe results of his routine hematologic and chemistry laboratory tests were normal. His serum fasting blood glucose, follicle-stimulating hormone and luteinizing hormone levels were normal. His serum muscle enzymes and a routine electroencephalogram were normal. A needle electromyography showed insertional classic myotonic discharges. A nerve conduction study showed mild axonal sensorimotor polyneuropathy.\nA muscle biopsy showed marked increase of internalized nuclei (arrayed in chains in longitudinal section), severely atrophic muscle fibers with pyknotic nuclear clumps, muscle fiber necrosis and regeneration of isolated muscle fibers, architectural changes such as sarcoplasmic masses and ring fibers, and a preferential atrophy of type I fibers (Figure ).\nHe was subsequently discharged after he improved after pneumonia and his seizures were controlled with 300mg of phenytoin per day. |
Subsets and Splits
No community queries yet
The top public SQL queries from the community will appear here once available.