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The 26-year-old Thai male was born to a family without a history of hereditary disease or short stature. He developed multiple draining sinuses from his oral cavity and lower jaw since age 18. The patient had been repeatedly treated with oral antibiotics and local wound care at his community hospital for 4 years. He had painless progressive bilateral visual loss since age 9. Upon unsuccessful treatment of infection, he was referred to the state hospital where he was found to have pathological fracture of both tibias after a minor injury. Skeletal X-ray also showed abnormal bone density. He was finally referred to our hospital after an unsuccessful 3-year course of intravenous antibiotics and multiple surgical procedures of his jaw. Upon arrival, the patient was found to have an enlarged mandible with multiple cutaneous submandibular fistulas, palpable condyles, and exposed necrotic bone at the lower alveolar ridge. His visual impairment had progressed to retaining only light perception in both eyes.\nPhysical inspection of the patient demonstrated a man with short stature (130 cm height; less than 3rd percentile) with facial dysmorphism including bitemporal narrowing, bilateral exotropia, and exophthalmos. Hypermobility of proximal interphalangeal joints of both hands and bilateral bow legs were noted. Ophthalmological examination revealed exophthalmos of 27 mm for right eye and 29 mm for left eye measured with Hertel exophthalmometer. Limited extraocular movement of both eyes especially on upward gaze (5–10 degrees) was observed. Bilateral pale optic disc consistent with optic atrophy was noted on dilated fundoscopic examination. Otorhinolaryngological examination revealed lateralization to the right from Weber test, superior bone conduction versus air conduction of sound from Rinne test on both sides, pure tone audiometry masking level of 40 dB on the right ear and 32 dB on the left ear, and 100% unaided recognition score speech audiometry in both ears which overall suggested a presence of bilateral conductive hearing loss. X-ray imaging of the skull in AP and lateral view, mandible panoramic view, and extremity bone survey demonstrated dense sclerotic change of all bones (illustrated in Figure ). Further CT scan of the head and neck revealed diffuse cortical thickening and dense sclerotic change of bony calvarium, visualized facial bones, cervicothoracic spine and bony thoraxes, hypoplasia of maxillary bone and maxillary sinus, and severe stenosis of skull base canal including internal auditory meatus, bilateral orbital apices and optic canals. Initial laboratory investigation revealed mostly normal results: complete blood count was Hb 13 g/dl (12.7–16.9 g/dl), white blood cell count 8,000 cells/μl (4,500–11,300 cells/μl) and platelet count 189,000/μl (160,000–356,000/μl), BUN 6.1 mg/dl (6–20 mg/dl), serum creatinine 0.52 mg/dl (0.67–1.17 mg/dl), total calcium 9.1 mg/dl (8.6–10.0 mg/dl), phosphorus 2.8 mg/dl (2.5–4.5 mg/dl) and high PTH level at 82.7 pg/ml (15.0–65.0 pg/ml). Serum electrolyte, liver function test, thyroid function test, and urinalysis were in normal range. Bone turnover biomarkers were osteocalcin (N-mid) 17.90 ng/ml (24–70 ng/ml), beta-crosslaps 0.059 ng/ml (0.016–0.0548 for male age 30–50 year), and **P1NP 20.90 ng/ml.\nOver the next 6 months, the patient underwent five surgical debridements with tooth extraction and 40 courses of hyperbaric chamber treatment. Tissue samples (mandible, tooth, and skin) were sent for pathological examination which revealed chronic osteomyelitis. Aerobic and anaerobic mycobacterial and fungal cultures revealed oral microbiota (Proteus mirabilis, Citrobacter koseri, Enterococcus\nfaecalis, Bifidobacterium spp., Parvimonas vicar, and later methicillin-resistant Staphylococcus aureus). Ciprofloxacin 400 mg every 12 hr and Clindamycin 600 mg three times daily were prescribed and discontinued after a consecutive normalization of C-reactive protein over 6-month period (from 9.88 to 1.29 to 1.09 mg/L). The patient remained antibiotic free for a year up to the current follow up. His visual impairment has been clinically stable with an active follow-up plan annually with ophthalmologist. His lymphocyte subpopulation test after a year free of antibiotic was CD4+ Cell 23.46% (24.1%–50.70%), Absolute CD4+ T cell count 712 cells/μl (470–1,404 cells/μl), CD8+ Cell 34.15% (17.10%–44.60%), Absolute CD8+ T cell count 1,036 cells/μl (360–1,250 cells/μl), CD4+/CD8+ ratio 0.69 (0.65–2.49), CD3+ Cell 58.84% (46.20%–82.70%), Absolute CD3+ T cell count 1,786 cells/μl (960–2,430 cells/μl), CD19+ 27.01% (7.70%–25.40%), and Absolute B cell count 820 cells/μl (140–660 cells/μl).
A 68-year-old man who lived in Venezuela for the last four decades presented to our clinic with inexplicably incremental renal and hepatic failure with an obviously reduced general and nutritional condition for further diagnostic and therapy. Due to severely reduced creatinine-clearance (MDRD = 14 mL/min), he was scheduled for continuous ambulatory peritoneal dialysis (CAPD) both to drain his up to six litre nonmalignant, persistent hydroperitoneum as well as for dialysis. Patient's history was inconspicuous apart from a single vessel coronary heart disease that had lead to an acute myocardial infarction (AMI) interventionally treated by implantation of a bare metal stent into the LAD three years ago. One-month post-AMI, the patient complained of progressive abdominal heaviness and pressure as well as shortness of breath, which was nebulously explained by hepatic failure due to thienopyridine treatment. In contrast to the assumed hepatic cirrhosis, multiple abdominal ultrasound studies did not reveal cirrhotic hepatic tissue texture as well as excluded a veno-occlusive Budd Chiari disease. Shortly before the admission to our hospital echocardiography study was conducted externally with reduced acoustic windows to exclude an underlying cardiac disease and showed a moderately reduced left ventricular function, a mild aortic and mitral regurgitation as well as anterior hypo- to akinesia with potential apical adhesions. These findings were in far contrast to a holosystolic harsh loud murmur accompanied by a thrill being present in the third and fourth left intercostal space. For further clarification of morphology, function, the extent of myocardial scar, and exclusion of constrictive pericarditis, a gadolinium contrast enhanced and cine MRI was conducted. Cine short axis, two- and four-chamber MRI imaging showed a dilated right and left ventricle with an almost severely reduced left and right ventricular function (LV ejection fraction = 35%), a pronounced apical post-AMI aneurysm with transmurally infarcted myocardial tissue () as thin as 1.5 mm together with a moderate to severe mitral and tricuspid regurgitation. Short axis imaging () revealed a hemodynamically highly significant 12 mm large apical interventricular septal defect (IVSD) with an MRI estimated regurgitation fraction of 52%. Therefore, having come to the diagnosis of a post-AMI ventricular IVSD, we consequently conducted a left and right heart transseptal catheterisation. Heart X-ray confirmed MRI results and revealed a left to right ventricular shunt of almost 63%, a severe LAD in-stent restenosis, and a severe mitral regurgitation. Despite the administration of more than 180 mL of X-ray contrast agent, patient's renal function was preserved due to an intensified CAPD regime. Heart surgery was performed where the apical aneurysm was excised, the mitral valve was reconstructed, the IVSD was closed and the subtotally in-stent occluded LAD was bypassed with an internal mammaria coronary artery bypass graft. Post-surgery, the ascites were significantly reduced. CAPD therapy could be terminated since the renal function gradually improved (MDRD = 25 ml/min).\nThe overall incidence of post-AMI IVSD is hard to assess because clinical and autopsy series differ considerably []. A large autopsy study in 1989 suggests that the incidence of myocardial interventricular rupture has increased since the late 1960s, with a rate of 31 per cent among necropsied cases []. The prior use of corticosteroids or nonsteroidal anti-inflammatory agents has been implicated as predisposing to rupture as a result of impaired healing. Conversely, the early use of thrombolytic therapy appears to reduce the incidence of cardiac rupture [], an effect that is responsible in part for improved survival with effective thrombolysis. The size of the defect determines the magnitude of the left to right shunt and the extent of hemodynamic deterioration []. The likelihood of survival depends on the degree of impairment of ventricular function and the size of the defect []. Recently a non-ischemic surgical repair was described but was not suitable in this patient due to the complex situation this newer approach without aortic occlusion, systemic hypothermia and cardiolplegic arrest.\nIn our case, due to right-sided heart failure with increased right atrial pressure and tricuspid regurgitation, subsequent congestive hepatomegaly associated ascites was extensively treated with diuretics and consequently led to hepatorenal syndrome. Although echocardiography might not always suggest IVSD due to reduced acoustic windows, simple and inexpensive auscultation is almost pathognomonic. An IVSD is characterized by the appearance of a new harsh, loud holosystolic murmur at the lower left sternal border and is usually accompanied by a thrill. Although biventricular failure generally ensues within hours to days, in our case the patient astonishingly survived more than three years with accretive signs of hepatic and renal failure. Operative intervention is mostly successful and should not be delayed in patients with a correctable lesion [].\nOur case report has two important issues. To our knowledge, for the first time we report successfully practiced CAPD catheter drainage of hydroperitoneum due to congestive liver and renal failure in combination with CAPD hemodialysis. Secondly, simple auscultation of the heart lead to the diagnosis of IVSD that, if correctly performed earlier, could have greatly relieved the patient's symptoms, his reduced physical state, and his commencing hepatic and renal failure. Furthermore cardiac TEE or MRI as not invasive and radiation-free methods should be considered in case of limited acoustic windows for echocardiography to exclude an IVSD.
Here we report a 48-year-old male case of EAML of the kidney which is a relatively newly described renal neoplasm and is closely related to the more common classic AML of the kidney and perivascular epithelioid cell neoplasm of extra-renal sites [].\nThe ethical committee of our institute gave us permission for the current publication. The patient gave informed consent and is aware of this case report.\nThe patient arrived at our institute, complaining of severe pleuritic chest pain for approximately three months. He was not a smoker and did not consume any illicit drug or alcohol. He had never experienced urinary problems. His past medical history was unremarkable. He had no history of previous surgery.\nOn physical examination, a huge abdominal mass was palpated in the left flank. Incredibly, he did not feel this enormous mass earlier which may suggest the rapid growth of the lesion.\nThere were no abnormal findings in laboratory studies (Including complete blood count, urine analysis and stool examination) except for a slightly elevated Erythrocyte Sedimentation Rate (ESR). Renal and liver function tests were within normal limits. He was admitted for further diagnostic evaluations. The chest Computed Tomography scan (CT-scan) revealed a massive pleural effusion in the left hemithorax. Abdominopelvic CT-scan showed two infrarenal heterogeneous masses arising from the medial pole of the left kidney with significantly increased vascularity. Both masses contained adipose tissue, which was suggestive of either AML or a well-differentiated liposarcoma ().\nPurified Protein Derivatives (PPD) skin test and cytopathologic analysis of pleural fluid were done in order to rule out tuberculosis and malignancy respectively. The aspirated fluid only contained inflammatory materials.\nThen, he underwent a radical left nephrectomy which is the treatment of choice for huge AML of the kidney based on the literature. Surgery was performed by an experienced urologist, under general anesthesia, and via a midline incision. After exploring the abdominal cavity, two huge masses attached to the middle pole of the left kidney were observed (). Massive intra-operative bleeding led us to infuse one unit of homologous cross-matched packed cells. Masses were measuring 32228 cm and 210.5 cm, with lobulated surfaces and covered by a thin capsule. On cut sections, both masses contained soft, creamy yellow tissue comprising a growing adipose tissue. The smaller mass was separately located into perinephric fat while the greater one, was invaded renal sinus fat. After the operation, he was admitted to the Intensive Care Unit for 4 days and then to the urology ward for a week. The post-operative period was uneventful and the scar healed perfectly.\nThe specimen was sent for histopathologic evaluations. The larger mass contained necrotic tissue and atypical epithelioid cells with the mitotic rate of 0–1 IN 10 HPF. The atypical mitotic figure was not identified. These findings completed the gross characteristics to confirm the diagnosis of EAML, possibly associated with tuberous sclerosis. ()\nLastly, by the consult of an expert dermatologist, the association with Tuberous Sclerosis Complex (TSC) which presents with multi-system progressive tumors, intractable epilepsy, and mental retardation, was ruled out. He had no skin lesion suggestive of sclerotic changes or a history of neurological manifestations of TSCs.\nNo specific concurrent treatment was applied for him except antibiotic (1 g of Cefazolin every 6 h) and analgesia (when required) for two weeks postoperatively. He was under our close observation during his stay at the hospital. Renal Function Test and Complete blood count were evaluated every other month. His abdominal pain was completely relieved after the surgery. At a two-year follow-up by CT-scan. There has been neither metastasis nor recurrence during the 24-month period since resection ().
We present the case of a 30-year-old Nigerian male who was brought to the Surgical Emergency Department of the Lagos State University Teaching Hospital Ikeja 22 hours after he had inserted a constricting ring over his penis. He had developed a painful penile shaft swelling distal to the ring with suprapubic pain and swelling secondary to acute urinary retention. There was associated urethral bleeding.\nThere had been failed attempts at removing the ring by self and the resulting severe pain drew the attention of his relatives who brought him to the emergency room.\nHe had a history of a psychiatric illness and the patient claimed he was under a spell and had heard a voice that instructed him to insert a ring over his penis. He denied using the ring to sustain erection and claimed it was his first time of inserting a ring over his penis.\nThe patient had a history of deterioration in personal and general performance with underachievement dating back to 7 years prior to presentation when he voluntarily dropped out of the university and had done nothing tangible thereafter.\nTwo weeks prior to presentation, the patient's relatives had noticed some unusual behavior in him characterized by talking to self and rubbing salt over his body and the patient claimed he was being chased by unseen people.\nHe had a history of alcohol, cigarette, and cannabis abuse for about 15 years.\nOn examination, he was in acute urinary retention with a tender suprapubic distention up to the level of the umbilicus.\nThere was a thick constricting ring at the root of his penis. There was a markedly swollen oedematous penis distal to the ring with marked reduction in sensation over the penis and glans ().\nWe made a diagnosis of Constrictive Penile Injury (Bhat Grade III) with acute urinary retention [].\nHe had a suprapubic cystostomy done to relieve the acute urinary retention as a urethral catheterization was impossible.\nAttempts were made to remove the constricting ring by the use of aspiration, application of cold compress, and lubrication initially and later by the use of the string method.\nFollowing failed attempts at removing the device with these different manipulations and unsuccessful attempt at cutting with the manual saws available in the hospital coupled with the fact that the patient appeared to have imminent penile gangrene, a decision was made to call the fire service for a power driven saw.\nThe ring was successfully removed by cutting it at two different points () with a power driven arc saw () under conscious sedation at the emergency room.\nThermal injury was prevented by intermittent cooling with ice packs and injury to underlying tissue was prevented by insinuating a pair of artery forceps between the penis and the ring ().\nDressing of the resulting penile skin ulceration was done and the plastic surgery team was invited for possible additional wound care.\nThe patient was also reviewed by the psychiatric team who made a diagnosis of schizophrenia and commenced the patient on haloperidol. He was to be followed up on an outpatient basis in the psychiatry clinic.\nThe patient reported normal nocturnal erections while on admission. Further evaluation of the suspected urethral injury with urethrogram and a urethroscopy was planned but this was declined by the patient who opted to retain his suprapubic catheter.\nThe patient also declined any additional wound care by the plastic surgery team and the wound was healing satisfactorily by secondary intention as at 2 weeks after the initial presentation ().\nHe subsequently defaulted from care.
An 86 year old Caucasian lady presented to the Emergency Department (ED) of a tertiary referral teaching hospital with sudden and persisting loss of vision in her right eye over eight hours. The ED team reported that a hyphaema was present with ‘bleeding through the pupil’. The patient described reduced vision after waking that morning, which progressed during the day. She reported severe pain (6/10) and aching in the right eye, which extended ipsilaterally down to her neck and was associated with dry retching every 30 min. She denied any previous similar episodes.\nShe was on Warfarin for recurrent pulmonary emboli and had recently been prescribed intravenous Ceftriaxone and subsequent oral Cefaclor for cellulitis of her right leg. Her general health had been complicated by a cerebrovascular accident 30 years earlier following a ventriculoperitoneal shunt revision originally performed for pseudotumour cerebri. She had treated hypothyroidism and hypertension.\nHer right visual acuity was light perception and left was 6/9. The right pupil response to light was sluggish, but due to her long-standing Parinaud’s syndrome secondary to the stroke, pupillary assessment was challenging. However, there was no evidence of a relative afferent pupil defect, nor indeed of an indirect relative afferent pupil defect. In the right eye there was a 1.6 mm hyphaema. Her IOP was 55 mmHg, with slight corneal microcystic oedema. There was no evidence of pupillary block and her anterior chamber angles were open at grade 2. There was no evidence of primary uveal melanoma. The left eye was normal, except for a small area of temporal foveal atrophy.\nB-scan ultrasound was normal with no evidence of vitreous haemorrhage or mass lesions identified. An iris fluorescein angiogram was contemplated and would have supported a more definitive diagnosis of iris microhaemangioma but was deemed clinically unnecessary at the time. A computed tomography angiogram of the brain, conducted in ED to investigate the patient’s symptoms, with a view to excluding internal carotid artery stenosis, was also normal. Full blood count, liver function tests, blood sugar level and HbA1C were normal. Coagulation studies revealed a supratherapeutic INR of 3.9 and electrolyte analysis revealed elevated serum potassium of 5.9 mEq/L, both of which were deemed iatrogenic secondary to her recent oral antibiotic use.\nA 23-gauge needle anterior chamber paracentesis was performed temporally. The intraocular pressure was lowered to 29 mmHg, and statim dilatation was carried out with guttae (G.) Tropicamide 1 %. As the pupillary diameter increased, clot retraction occurred with clearing of the visual axis, immediate improvement in right eye visual acuity to 6/60, and demonstration of the ipsilateral IVTS (Fig. ). At this point, the IVTS in the left eye also became evident. Right fundus examination demonstrated a normal optic nerve head with a cup:disc ratio of 0.2, and with a small area of central foveal atrophy.\nThe patient was commenced on hourly G. Prednisolone Acetate 1 %, G. Atropine 1 % twice daily, and a combination of Brinzolamide, Timolol, Latanoprost and Brimonidine. With the advice of the Haematologists, she was administered 1 mg of Vitamin K intravenously in order to normalise her INR. With advice from the Nephrologists, 30 g of Resonium was administered orally to reduce her serum potassium.\nHer hyphaema resolved completely, and after 48 h her right visual acuity had improved to 6/12. Subsequent scanning laser polarimetry of the retinal nerve fibre layer and automated achromatic perimetry testing were within normal limits.\nGiven the absence of any significant trauma and lack of systemic associations, the patient’s spontaneous hyphaema was attributed to her IVTs with supratherapeutic INR as a predisposing factor. Her recent oral cephalosporin usage for lower limb cellulitis was implicated as causal for her high INR. It is known that these antibiotics decrease the absorption and alter the metabolism of vitamin K, thus augmenting the effects of Warfarin. Haematology review deemed her risk of further clotting episodes to be too high to stop warfarinisation. Counselling was given to the patient on the association of an increased, and potentially life-threatening INR, and propensity for further IVT bleeding.
The patient was a 69 year-old caucasian male with recently diagnosed diabetes and a history of non-disabling stroke several years before. There was no record of hypertension, hypercholesterolemia, tobacco use or previously known coronary artery disease. Importantly, he was not taking any cardiovascular medication, including ASA.\nThe patient first presented to the emergency department of a referral hospital complaining of lower chest pain and vomiting. The ECG showed no signs of acute ischemia and, as biomarkers of myocardial necrosis tested negative, the patient was discharged with no further evaluation. During the next days, chest pain persisted and, on day five after the initial symptoms, he went back to the emergency. At that time the ECG showed inferior pathological Q waves, slight (~1 mm) ST-segment elevation and biphasic T waves on the inferior leads and a test for cardiac troponin I was positive. The patient was admitted with the diagnosis of subacute inferior myocardial infarction with recurrent angina and anti-thrombotic and anti-ischemic medications (including low molecular weight heparin and GP IIb/IIIa inhibitors) were started. Due to the persistence of chest pain the patient was referred for urgent coronary catheterization, which was performed at our institution on day five after symptom onset. Angiography showed a critical stenosis of the right coronary artery with TIMI 2 grade flow, with no other significant coronary lesions. An angioplasty procedure with deployment of a drug-eluting stent was successfully undertaken and the patient transferred to the CCU for routine monitoring.\nOn day seven after the first chest pain episode, clinicians were surprised by a new and persistent 4 to 5 mm ST-segment elevation affecting leads V1 to V5, I and aVL (Figure ). The patient's clinical status remained remarkably stable as he experienced no recurrent chest pain, heart sounds could be eared clearly, there were no murmurs or bruits and blood pressure was in a somewhat expected range (~120/80 mmHg), considering that pressure lowering drugs had been newly introduced in incremental dosage. Serial evaluation of biomarkers of myocardial necrosis showed no increase relative to earlier post-PCI values, but white cell counts and CRP levels were both slightly elevated. At this point, a bedside transthoracic echocardiogram (TTE) was performed, showing a global small-to-moderate echodense pericardial effusion, somewhat larger in the posterior and inferior aspects of the heart, with no signs of tamponade (Figure and ). There were no regional wall motion abnormalities of the anterior wall and, in addition to basal inferior-wall akinesis, a canalicular tract from endo to pericardium was seen along the interface between the necrotic and the normal contracting myocardium (Figure , , , ). Power-Doppler evaluation additionally suggested an abnormal blood leak across the inferior LV wall (Figure , ) and, on the basis of these findings, a LVFWR was suspected. While the transoesophageal echocardiogram with intravenous echocontrast brought no further input, cardiac MRI images (Figure ) corroborated the TTE findings and reinforced the diagnostic suspicion of LVFWR, leading to urgent surgery. After pericardiotomy and cloth evacuation there was a significant increase in the systemic blood pressure, suggesting that tamponade might have been impending. The myocardial tear was identified and successfully repaired with a tephlon band supported suture technique. Recovery was uneventful allowing hospital discharge 5 days after the operation. Two years after the event the patient is still alive and leading a normal life.\nAs previously mentioned, mechanical complications of acute MI, including LVFWR, apparently tend to become less frequent in day-to-day practice, at least in part due to the our growing ability to deliver safe and effective reperfusion therapies (both pharmacological and mechanical) to a wide range of MI patients.\nThe time frame for the occurrence of LVFWR may vary widely. In the pre-thrombolytic era incidence peaked between days 5 and 7 after the MI, but rupture has been reported to occur as late as one month or even beyond [-].\nTraditionally, factors considered to increase the risk of LVFWR would include advanced age (6th decade or later), female gender, hypertension without left ventricular hypertrophy, delayed or no reperfusion, the anterior location of the AMI, no prior angina, a first myocardial infarction, poor collateral circulation to the infarct related area, use of NSAIDs or steroids during the acute phase, and high serum levels of C-reactive protein [,,].\nAlthough cardiac rupture following AMI cannot be explained by any single factor, in this particular case, variables predicting the anticipated risk of cardiac rupture were related mainly to treatment delay and patient's age. Gender differences regarding the outcome after AMI have been well established, and even in the direct PCI (d-PCI) era, female sex has still been reported to be an independent predictor of LV rupture [,].\nDespite being theoretically more probable in the inferior-lateral wall, it seems that the fact that anterior infarcts are more common, renders anterior wall ruptures more frequent []. However, a thorough literature review showed that, in the specific case of subacute LV wall rupture, inferior infarctions seem to be involved in the majority of the cases [-]. It has been stated that this might be due to the fact that patients with anterior wall ruptures may be less protected because blood tends to accumulate and to form adherent cloths in the posterior-inferior wall [].\nDespite age and general clinical status would have made this patient eligible for on site reperfusion therapy, absence or delay of timely reperfusion (owing to late diagnosis) was perhaps the major risk factor for LVFWR. The reported decrease in the incidence of MI-related cardiac rupture in the thrombolytic and subsequently in the d-PCI era is relatively consistent. Regarding the absolute risk of mechanical complications, there is general agreement in that any reperfusion is better than no reperfusion. However, perhaps particularly in elderly patients, the relation between the use and the timing of thrombolytic treatment (which is the most widely used reperfusion strategy) and the risk of LV rupture, has been matter of concern [,]. This is due to the fact that up to 30% of MI patients arrive to the hospital later than the optimal time-frame for thrombolysis to be potentially beneficial []. Although still controversial, there is evidence to suggest that, contrary to data provided by previous reports and post-hoc analysis of pivotal clinical trials [,], neither thrombolysis itself nor the time delay to thrombolytic treatment actually seem to increase the absolute risk of LVFWR. In the LATE trial [], Becker et al. found no significant differences in the incidence of LVFWR in patients treated with a rt-PA based regimen within the 6 to 12 hour period after symptom onset and those randomized to the active treatment arm between 12 and 24 hours. However, there was a significant interaction between the assignment to active treatment and the time of rupture occurrence, as thrombolysis appeared to accelerate rupture events, typically to within 24 h after treatment []. Several possible mechanisms underlying this paradoxical effect of fibrinolysis have been proposed, such as extension of myocardial hemorrhage, weakening and dissection of the necrotizing zone [], diminishing of the myocardial collagen content [], and digestion of collagen by collagenases and plasmin [-]. Whether or not d-PCI would have similar effects has been recently examined in a retrospective analysis of a single centre registry of 1250 patients treated with d-PCI. In the 12 patients who had LV rupture (including free wall rupture and VSD), this complication occurred somewhat later than with thrombolysis, but earlier than that reported for non-reperfused patients []. The relative advantages of PCI versus lytics in this high risk group of patients have been evaluated in the SENIOR-PAMI trial []. In this yet unpublished study, 483 patients aged ≥ 70 years old were randomized to primary PCI or thrombolysis; despite a small difference favoring PCI, it failed to significantly reduce the 30-day mortality rate (10% vs 13%), thus suggesting that the incidence of fatal mechanical complications could have been quite similar. However, as the overall reduction in the incidence of the composite endpoint of death, MI or stroke favored PCI over thrombolysis (11.6 vs 18%; p = 0.05), this study might have been underpowered to evaluated the benefits of PCI in isolated hard endpoints such as MI-related death.\nWhen the acute form of LVFWR occurs, it usually results in an abrupt haemodynamic collapse with cardiac tamponade and electromechanical dissociation. Death ensues in a matter of minutes to hours in the large majority of cases, as cardiopulmonary resuscitation maneuvers are uniformly unsuccessful.\nLess frequently, in up to one third of the cases, the rupture can be sealed by the epicardium or by a haematoma on the epicardial surface of the heart, forming a "LV diverticulum" or contained myocardial rupture. This situation represents a subacute pathologic condition standing somewhere between free rupture into the pericardial cavity and formation of a pseudoaneurysm [,-]. This much less spectacular scenario – gradual or "oozing type" rupture – may evolve over hours or even days, and presents mainly with pericardial effusion related signs and symptoms.\nMyocardial free wall rupture should be suspected in patients with recent MI who have recurrent or persistent chest pain, sometimes of the pericardial type, haemodynamic instability, syncope (resulting from transient electromechanical dissociation), and pericardial tamponade. New ST segment changes ("saddle shaped ST-segment elevation") may be the chief clinical manifestations [,]. In fact, electrocardiographic findings in LV rupture patients may be related to its type and severity. Electromechanical dissociation (with a diagnostic accuracy that reaches 97%) and bradycardia are features of the acute variety, while new ST-elevation in the affected leads or persistent non-inversion of T-waves may suggest the less noisy "stuttering" type of rupture [,]. In this setting, interventions that can dramatically change prognosis can be employed, as long as an accurate diagnosis can be timely established. Clinical course depends mainly on the rate of bleeding and the compliance of the pericardial sac. Signs of restricted ventricular filling may be absent if the effusion develops slowly enough and bleeding ultimately subsides [,,,].\nIn a scenario of relatively low threshold for clinical suspicion, the unexpected ECG changes were the key to the diagnosis. Otherwise, patient was only to be exposed to the natural history of the disease which, at this point, may be rather unpredictable [-]. In our institution, the risk stratification protocol after an acute MI includes an echocardiographic examination. However, unless a complicated clinical course ensues, it is performed only after the patient has stepped down to the ward. Thus, no additional investigations were to be made at that time.\nIn those who are haemodynamically unstable, which was not the case of our patient, right heart catheterization will usually provide useful information and may help in the differential diagnosis with other life threatening complications, such as VSD. In the typical patient, right atrial pressure will be comparable to pulmonary capillary wedge pressure [].\nEmergency pericardiocentesis has the potential for the identification of haemopericardium and relief of cardiac tamponade. Despite rarely seen in the acute MI setting, cardiac tamponade may be caused by serous or serohaemorrhagic pericardial effusions; also, the risk of chamber puncture and the theoretical possibility of "thrombus displacement" and "decompression" of the contained rupture, can, not only hamper the diagnostic accuracy of pericardiocentesis, but also make it potentially harmful. Given these considerations, we strongly feel that this procedure should not be "routinely" used as a diagnostic tool and should be kept for situations of absolute need for tamponade relief [].\nIf a mechanical complication is suspected, emergency bedside transthoracic and/or contrasted transesophageal echocardiograms are considered the gold standard diagnostic tools [].\nPericardial effusion is the most common finding, usually with echodense intrapericardial echoes. The absence of pericardial effusion in a patient with AMI excludes the diagnosis of myocardial rupture, but its presence as an isolated finding in this context does not definitively confirm the diagnosis. Right atrial and right ventricular wall compression as well as Doppler signs of a compromised ventricular filling, can also be identified by 2D echocardiography. Direct signs of rupture like a myocardial tear, as in this case, will be seen only occasionally [,]. In a prospective study involving 1247 MI patients (33 with subacute LV rupture), the presence of cardiac tamponade, pericardial effusion greater than 5 mm, high density intrapericardial echoes or right atrial or right ventricular wall compression had a high diagnostic sensitivity (≥ 70%) and specificity (≥ 90%). Despite data reporting on high positive predictive values of intrapericardial echoes and echocardiographic signs of tamponade alone, still the number of false-positive findings for every single variable may be relatively high (>20%) [,]. However, when combined with syncope, in the appropriate clinical setting, their diagnostic accuracy may reach 100% [].\nIn our case, Doppler examination suggested an abnormal intramyocardial tract, but could not definitely demonstrate active bleeding into the pericardium. The detection of blood flow at the site of rupture may not be feasible in many cases, as the myocardial tear is most often anfractuous and sometimes covered by thrombi and thus blood flow velocities may be low. Despite the potential ability of contrast echocardiography to decrease the number of false-positive diagnoses [-] – by showing leakage of contrast from the left ventricle into the pericardial effusion – it was of no help in our patient.\nThe role of new imaging techniques in this setting, such as cardiac MRI, although promising, remains observational and anecdotic [-]. Trials assessing the relative value of echocardiography and high resolution CT scans or cardiac MRI are limited not only by clinical, but also by obvious ethical and logistic issues. The wide availability of ultrasound makes this technique "difficult to beat" in the clinical ground, as the expensive technology and expertise needed for cardiac MDCT or MRI imaging are not promptly available in the majority of the hospitals, even in those where cardiac surgery is promptly available. Nevertheless, we should emphasize the high grade of concordance between echocardiographic and MRI images (Figure and Figure ). Although MRI had, in our case, a paramount importance in the establishment of the diagnosis and in the decision to proceed to surgical treatment, standard and/or contrast enhanced echocardiograms, in expert hands, will generally be trusted as the ultimate diagnostic tools.\nDespite cases of a fairly good long term survival following a conservative approach have been described [,], there is general agreement in that surgery provides the only potentially definitive treatment option and that the diagnosis of subacute LVFWR usually requires a surgical decision []. However, the finding that patients presenting with LV pseudoaneurisms might have survived to subacute forms of LV rupture (with only mild hypotension or asymptomatic pericardial effusions) may argue against the absolute need for surgery, suggesting that a conservative management can be an acceptable choice in carefully selected patients, namely those at high surgical risk.\nOne prospective study reported a 44% survival rate among MI patients with confirmed or strongly suspected LVFWR who survived resuscitation maneuvers after electromechanical dissociation (EMD) or presented only with hypotension without EMD [] and were treated conservatively. However, in this study there wasn't a surgically treated group suitable for comparison and the possibility of other causes of cardiac tamponade could not be definitely ruled out. Medical management included pericardiocentesis as needed, prolonged bed rest and strict control of LV pressure (preferably with beta blockers) and avoidance of obstipation. Blinc et al., in a retrospective analysis, reported much poorer results with a survival rate of only 10% []. Intra-aortic balloon pumping has also been employed effectively in unstable patients unresponsive to inotropic agents and fluid replacement [] but some have found its use to be debatable, unless persistent ischemia and/or LV pump failure also ensues [,].\nThe very high surgical risk, which can be unacceptable if the procedure is to end up as "blank" sternotomy, is the major drawback posed to surgeons. Thus, all efforts should be made to confirm the diagnosis in order to reduce the number of false positives. The goals of surgery are to stop bleeding, to relieve cardiac tamponade and to prevent a second rupture. When possible, off-pump sutureless techniques using biocompatible glues and patches to cover the necrotic/ruptured area are increasingly being preferred to infarctectomy and direct myocardial suture, and are thought to yield better results [,,,]. However, some reports have suggested that inferior-lateral ruptures – as in the case of our patient – may be adequately treated with direct suture. Coronary artery bypass grafting is also indicated as needed. Emergency coronary angiography in order to determine which coronary arteries to bypass is warranted in the subacute setting, although the possibility of proceeding directly to surgery and perform empirically based bypassing of all of the major epicardial coronary arteries as also been described [].\nDespite high perioperative mortality rates (33 to 55%), a rather well preserved post-procedure left ventricular function, as well as a fairly good functional long term prognosis are increasingly being reported [,-].
A 49-year-old Japanese man whose gloved hand was caught between a gas cylinder and a concrete floor was taken to our hospital by ambulance. His right middle finger had been amputated in the distal interphalangeal (DIP) joint region, and his right ring finger was connected only by nerve and blood vessel bundles, showing a compound fracture of the distal phalanx (Figures and ). Our institute’s approach in cases of trauma is to inject tetanus toxoid and human anti-tetanus immunoglobulin (TIG) if the wound is dirty. In this case, no tetanus toxoid was injected since there was no soil contamination. The bone was comminuted, and the crushing was found to be severe, but replantation was considered appropriate, and replantation of the middle finger and osteosynthesis of the distal phalanx of the ring finger were performed on the day that our patient was injured.\nSurgery was performed under axillary block anesthesia. After irrigation with 500mL of warm saline, the DIP joint of the middle finger was fixed, and the ulnar-side finger artery and dorsal cutaneous vein were anastomosed. In the ring finger, the distal phalanx was reduced and fixed. Minimal debridement was applied to only a part of the skin.\nOur patient was admitted for observation. There were no infectious signs in his hand. His middle finger was successfully replanted, but his fingertip was partially necrotized because of crushing (Figure ), and so additional reconstruction with a reverse digital arterial flap was performed 15 days after injury. The wound of his ring finger healed completely 18 days after the injury. No particular symptoms developed and there was no problem with the condition of the flap, but aggravation of lower back pain, trismus, and convulsion suddenly occurred 21 days after the injury (Figure ). The wound of his middle finger was immediately inspected, and discharge of a whitish turbid exudate from the region around the flap was noted. The wound was opened and irrigated with a large volume of saline. No bacterium was detected on exudate culture, and isolation or identification was not possible. On the basis of the clinical symptoms, tetanus was diagnosed and treatment was initiated. TIG (6000 units) was intravenously administered on the day of onset, and 6000 units of TIG and 0.5mL of intramuscular tetanus toxoid were administered the following day. We administered treatment with penicillin antibiotics. However, the convulsions did not remit and, in fact, slowly became aggravated. Thus, tracheal intubation was performed, and our patient underwent artificial respiratory management. Anticonvulsant and sedative were concomitantly administered, but convulsion was readily induced by light stimulation, such as irrigation of the wound. The frequency and intensity of convulsive seizures started to decrease slightly at about 10 days after onset, and a tapering of the intravenous anticonvulsant injection was initiated. Our patient was weaned from the ventilator 12 days after onset. The distal phalanx fracture of his ring finger healed 6 weeks after the injury. Conservative treatment of the open wound of his middle finger was continued, and the wound healed 8 weeks after the injury. The fingertip morphology of his middle finger was relatively favorable, but owing to rest for tetanus treatment, rehabilitation could not be performed, and joint contracture remained in his right middle and ring fingers. No systemic problem occurred afterward, and our patient was discharged 12 weeks after the injury.
A 45-year-old, deaf and dumb male patient of low socioeconomic strata was admitted with a history of easy fatigability and breathlessness on less than ordinary activities (New York Heart Association functional class-III/IV). He was a known case of chronic rheumatic heart disease; on further workup, he was found to have severe mitral stenosis with an area of 0.9 cm2, enlarged left atrium with clot in the left atrial appendage and moderate aortic regurgitation in atrial fibrillation. The patient was taken up for preoperative optimization with digoxin, diuretics and heparin and later posted for double valve replacement. On further enquiring, it was found that the patient was deaf and dumb since birth and was working as a motor mechanic. The parents of the patient were healthy with no hearing or speech defect and had five children, three sons and two daughters. Among them, two sons and one daughter were deaf and dumb congenitally while the rest had normal hearing and speech functions. The patients’ wife and son had normal hearing and speech functions. The preoperative visit focused on educating and interacting with the patient and his wife. Due to the poor educational background of patient's wife and other relatives, a sign language specialist was appointed to communicate as well as train the patient. The patient was explained about the surgical procedure and anticipated postoperative course, and taught to express pain by showing the visual analog scale (VAS).\nThe formal preanesthetic check-up revealed no significant co-morbidities. On the day of surgery, the patient was briefed about the procedure and the postoperative course in the presence of his wife and family members. In the operating room, a 16 gauge intravenous cannula and femoral arterial catheter were secured under local anesthesia. Central venous catheter was inserted after induction of general anesthesia. The patient was monitored according to the American Society of Anaesthesiologist standards. The patient was induced with midazolam and fentanyl; trachea was intubated with an 8 mm cuffed endotracheal tube after administration of vecuronium bromide and was put on mechanical ventilation with a mixture of 50% oxygen in air. Anesthesia was maintained with isoflurane and intermittent boluses of fentanyl and vecuronium bromide. Heparin was administered, aorto-bicaval cannulation was done and after achieving an activated clotting time (ACT) over 480 s cardiopulmonary bypass (CPB) was instituted. On CPB, a pulsatile flow was maintained, and the mean blood pressure was maintained between 65 and 75 mm of Hg. Mitral valve was replaced through left atrial approach with a 29 mm mechanical valve (St. Jude Medical Inc. Minnesota, USA) and aortic valve was replaced with 21 mm mechanical valve (TTK Chitra, Chennai, India). The patient was weaned of CPB without any difficulty. Meticulous hemostasis was done, and heparin was neutralized with protamine to normalize ACT. Two units of platelet concentrate were transfused after coming off CPB as per institutional protocol. Two chest tubes were placed, one in the mediastinum and the other in the pericardium. The chest was closed, and the patient was transferred to the intensive care unit and put on ventilator with stable hemodynamics. The immediate postoperative course was uneventful; the patient was extubated after 6 h. Postoperative analgesia was maintained with continuous infusion of fentanyl at 20 μg/h for first 24 h along with intravenous tramadol hydrochloride 75 mg tds. After extubation, the intensity of pain was assessed by VAS. After 24 h, pain was managed by intravenous tramadol and paracetamol to keep the VAS under 5. Gradually, the catheters and drain tubes were removed. Oral medications and feeding were started, the patient was mobilized and shifted to ward. The family members were allowed to visit frequently and interact with the patient. The patient was discharged on the 6th postoperative day with proper follow-up advice.
Three years before initial presentation, a 19 year-old female experienced the first of seven spontaneous pneumothorax events. By that time, three first trimester miscarriages had occurred (etiology unknown) and she had already undergone an uncomplicated term vaginal delivery of a healthy male infant. The patient did not use alcohol but had a four pack-year smoking history; she had stopped smoking 10d before her first pneumothorax. In the sixth week of her fifth pregnancy, she "felt sharp right-sided chest pain" radiating posteriorly accompanied by right arm paraesthesia and dyspnea. This developed while driving her car home. There was no history of trauma, coughing or sneezing episodes. She was brought to the emergency room where she was admitted with the diagnosis of right pneumothorax and a chest tube was placed. Good re-expansion was noted on chest x-ray and the patient was discharged home 2d later.\nApproximately two weeks later, a second pneumothorax occurred, this time following a prolonged "vomiting spell" secondary to hyperemesis of pregnancy. Evaluation in the emergency room identified a recurrent right pneumothorax. The patient's pulmonary symptoms were less pronounced and it was not considered large enough on chest x-ray to warrant treatment with a chest tube.\nA third small right pneumothorax developed at the 10th gestational week that responded well to conservative management and, again, no chest tube was required.\nHowever at ~19 weeks' gestation, the patient sustained a fourth pneumothorax with symptoms similar to that of the first. Chest x-ray revealed approximately 50% collapse of the right lung; she agreed to referral for definitive surgical management. Thoracoscopic excision of right apical lung blebs and mechanical pleurodesis proceeded without complication. The remainder of pregnancy was unremarkable and she was delivered (vaginally) of a viable female infant at term. Of note, the infant was diagnosed with postaxial polydactyly of both hands and one foot. Speech therapy identified "limited vocabulary for ag" and developmental delay was diagnosed. A normal karyotype was confirmed in the infant.\nAt age 21 the patient presented for prenatal care of her sixth pregnancy. She had resumed smoking following her penultimate delivery, but had discontinued cigarettes seven months before this conception. Based on her miscarriage history, additional testing was undertaken during antenatal screening and the patient was found to have protein S deficiency and be heterozygous both for MTHFR and prothrombin G20210A genes. Perinatal consultation determined that anticoagulation therapy was unnecessary based on these findings. Other prenatal laboratory tests and cervical cytology were normal. At approximately five weeks' gestation, the patient experienced "sharp left chest pain" and a spontaneous left pneumothorax was diagnosed by chest radiograph. Her previous four pneumothoraces involving the contralateral (right) hemithorax were noted. With supportive care her condition improved and lung re-expansion was achieved without chest tube placement. The patient was discharged home after three days.\nFor her sixth pneumothorax, she was readmitted to hospital one week later with similar symptoms and left pneumothorax was again identified on chest x-ray. Seven days of supportive care was followed by clinical improvement and radiographically confirmed resolution of the pneumothorax; the patient was discharged from hospital in good condition.\nThirteen days later, the patient described another episode of "extreme left-sided chest pain". Left pneumothorax was found on chest x-ray (50% collapse of the left lung). A 20 French chest tube was placed under intravenous sedation (midazolam HCl 2 mg) and lung re-expansion to <5% pneumothorax was achieved. Her hospital course during this seventh pneumothorax was unremarkable except for a mild intercurrent pneumonia (Tmax38.2°C) that responded well to intravenous antibiotics. The patient was discharged home in good condition 19 days later.\nAt 16 weeks' gestation the patient was admitted to hospital for mini-thoracotomy and thoracoscopically directed mechanical pleurodesis. Apical bleb disease was not prominent, and no obvious source of leak was identified. Recovery was uneventful and complete re-expansion of the lung was achieved.\nShe experienced no further chest pain and the remainder of her pregnancy was uncomplicated. At 34 5/7 weeks' gestation the patient underwent a spontaneous vaginal delivery of a viable male infant (weight 2336 g, Apgars 9/9). Given her tendency to develop pneumothoraces in pregnancy, the patient requested permanent surgical sterilization and laparoscopic bilateral tubal ligation was performed 10 weeks later. The progression of recurrent pneumothoraces and their treatment during the two pregnancies is depicted in Figure . Significant chest x-ray findings observed during the two pregnancies are summarized in Table .
A 65-year-old man presented to the emergency department (ED) after a computed tomography (CT) guided lung biopsy by interventional radiology with an acute cerebral air embolism. Prior to presentation, the patient had experienced progressive dyspnea for the prior few months and had an outpatient CT that revealed a lung mass. The patient subsequently presented to the interventional radiology suite for a CT guided lung biopsy, which later revealed adenocarcinoma. He received Versed and fentanyl for the procedure but remained alert and conversive during the procedure.\nShortly after the procedure, the patient became unresponsive. The rapid response team was activated immediately, but prior to their arrival, the patient became more alert. Upon assessment, the patient was noted to be aphasic, with left hemipareiss. A head CT was done and revealed right middle cerebral artery watershed area air embolism and hypodensity consistent with acute infarct ( and ). The chest CT showed no evidence of air embolism in the thoracic vasculature, but demonstrated a right pneumothroax, and a chest tube was inserted. The patient was not oriented to self, time, and place, but could follow simple commands intermittently. At that point, which was roughly about 30 minutes after the initial onset of symptoms, the patient was transported to the ED.\nUpon initial assessment in the ED, the patient had the following vital signs: temperature of 99.4°F, pulse of 86, respiratory rate of 18, and blood pressure of 120/91. The blood glucose obtained by finger stick was 149. The patient was hemodynamically stable, alert, speaking a few words in a confused manner, and was not following simple commands. Physical exam revealed bilateral breath sounds, with slightly decreased breath sounds on the right and a right-sided pigtail catheter visibly in place. On neurological exam, the patient was noted to be flaccid in the left arm, with 0/5 in motor strength and not responding to noxious stimuli. He had 3/5 in muscle strength on the left lower extremity and was responding sluggishly to noxious stimuli.\nThroughout his assessment, the patient was placed in Trendelenburg position while receiving 100% oxygen via nonrebreather mask. Hyperbaric oxygen treatment was entertained during evaluation of the patient. However, the patient presented with a concomitant pneumothorax, which is a contraindication that could be exacerbated by hyperbaric treatment. In addition, although the patient was stable upon presentation, the patient presented acutely following air embolism introduced into the vasculature and needed to be in a closely monitored setting, such as in the ED, that was prepared for resuscitation.\nWe, therefore, proceeded with the decision to intubate the patient and began inducing therapeutic hypothermia for neuroprotection. We used a commercial cooling device, and the target temperature was set at 31° to 33°C with the intention of maintaining the patient's temperature at 33°C for 24 hours. The patient was also given boluses of 4 mg lorazepam and 10 mg vecuronium and started on a titratable midazolam drip to prevent shivering and maintain sedation. The patient was maintained on therapeutic hypothermia for 24 hours in the surgical intensive care unit, and the patient was extubated on hospital day 2.\nUpon initial assessment following extubation, the patient was alert, oriented, and exhibited 2/5 muscle strength in the left upper extremity and 3/5 muscle strength in the left lower extremity, which was an improvement from the left upper extremity muscle strength of 0/5 on initial presentation to the ED. The patient began physical therapy daily and continued to show improvement neurologically. A repeat head CT showed resolution of air emboli on hospital day 4, with evolving right parietal-occipital hypodensity. On hospital day 5, the patient was assessed to have 4/5 in muscle strength in left upper and lower extremities, and left lower extremity muscle strength improved to 5/5 on hospital day 6. With continued effort in encouragement of out-of-bed activities and physical therapy, patient's left upper extremity muscle strength improved to 5/5 on hospital day 8. Overall, the patient made a full recovery neurologically and was later discharged on hospital day 21. The delay in discharge was mainly due to the patient developing Clostridium difficile infection.
The patient is a 35-year-old man and a petroleum engineer. He was doing very well with no significant previous medical history of note. He had a history of contact with a COVID-19-positive campmate. There was no history of travel to tropical countries, no family history of heart block or sudden death, neither a previous history of jaundice nor a history of skin rashes. He sought medical advice four days before his referral to our cardiac center because of headache and fever. He was admitted into the coronary care unit into a single negative pressure room and under strict droplet isolation precaution measures. Clinical evaluation revealed a temperature of 38°C, which subsided with one dose of antipyretic. Otherwise, he had stable vital signs and hemodynamics. His oxygen saturation was 98% on room air. His body weight was 85 kg, with a height of 170 cm (body mass index, 29.4 kg/m2). He was found to have severe bradycardia with a heart rate of 33 beats per minute (BPM), with otherwise healthy vital signs and cardiac examination results. He had symptoms of COVID-19-fever and headache. Before initiation of hydroxychloroquine the patient has baseline ECG, which was normal and screened for glucose 6-phosphate dehydrogenase deficiency and it was normal. He was treated with a course of hydroxychloroquine 400 mg orally for the first dose, then 200 mg twice daily for seven days. He also received levofloxacin 200 mg orally for five days and vitamin C 500 mg orally twice daily. On the third day after admission, he developed a skin rash and diarrhea, but both conditions subsided spontaneously. Serial laboratory tests, including a complete blood count and blood differential counts, serum electrolytes, liver function test, renal function test, lipid profile, and arterial blood gas, were within reference ranges. His coagulation profile and cardiac enzymes were both within reference ranges during the first day of admission. Liver functions increased at five days of admission due to possible hydroxychloroquine side effect. Acute phase reactants showed mildly increased C-reactive protein of 2.27 mg/dl (reference range of 0-0.8 mg/dl), erythrocyte sedimentation rate of 42 mm/h, and ferritin level of 525 ng/ml (reference range of 30-400 ng/ml), with healthy low-density lipoprotein (LDL) in the absence of leukocytosis. Arterial blood gas confirmed neither absence of acidosis nor any other acid-base imbalance disorders. Three serial tests of COVID-19 were positive in the first 21 days. Laboratory investigations were performed, as shown in Table .\nA chest x-ray revealed normal bronchovascular markings with free costophrenic angles (Figure ). Serial electrocardiograms with Holter monitoring and telemetry records revealed second-degree atrioventricular conduction block (AVB; Mobitz type 2), which progressed to complete AVB. His ventricular rate fluctuated between 32 and 42 BPM with evidence of sinus node dysfunction and left bundle branch block (Figures , ). A temporary pacemaker was implanted immediately to support circulation (Figure ). There were trials to examine the intrinsic heart rate and evaluate his conduction system status. Evaluation of intrinsic rate after five days of admission revealed scattered normally conducted sinus beats, which was interpreted as a possible recovery of the cardiac conduction system (Figure ). Cardiac catheterization revealed healthy coronary arteries (Figure ). As there is no clear-cut reference period in the current medical literature for the maximum time before implanting a permanent pacing system in a COVID-19-based heart block, we planned for a three-week waiting time. This is one week more than our reference waiting time after an atrioventricular (AV) block post cardiac surgery. After 18 days, the temporary system site was inflamed, causing pain and distress. The team decided to implant a permanent dual-chamber system on the same day (Figure ). During the third month after pacemaker implantation, the patient was still having complete AV block and was considered a stage four dependency (pacemaker-dependent).
A 42-year-old female patient reported with a chief complaint of pain in the right mandibular back tooth region for 3 days. Medical history of the patient was noncontributory. On clinical examination, the right mandibular first molar presented with mild attrition. Cervical abfraction was noticed for teeth 44, 45, and 46 []. There was a deep disto-occlusal carious lesion in relation to tooth 17, and teeth 36 and 21 were missing. Dental history revealed that the patient visited a dentist 8 years ago with a complaint of severe pain in relation to tooth 36 for which the tooth was extracted. The patient does not remember the cause for loss of tooth 21 as the tooth was missing for many years for which she was wearing a removable partial denture. There was no history of any orthodontic treatment. Intraoral periapical radiograph of the mandibular right posterior region revealed extensive external resorption of the mesial root of tooth 46 []. Upon cold test (RC Ice; Prime Dental Products Pvt. Ltd., Mumbai, India) and electric pulp testing (EPT) (Parkell Electronics Division, Farmingdale, NY, USA), tooth 46 gave an exaggerated painful response. EPT reading for tooth 46 was 6 (early response); for tooth 47, it was 25, and as the contralateral tooth was missing, tooth 37 was tested which responded at 28. A probing depth of 2–4 mm was recorded, and the clinical attachment of the gingiva was considered to be normal with no mobility. There was no swelling, discharge, or sinus opening in relation to tooth 46. The periodontal sulcus was probed using a standard periodontal probe. Hematological investigations including complete blood count as well as calcium, phosphorus, and alkaline phosphatase were within the normal range, so endocrine diseases such as hyperparathyroidism, hypoparathyroidism, hypophosphatemia, hyperphosphatemia, and Paget's disease were ruled out. The patient was informed about the questionable prognosis of tooth 46 due to resorption of mesial root, and written informed consent was taken. Provisional diagnosis of irreversible pulpitis was made, and to relieve the patient from pain, emergency endodontic treatment was planned.\nAfter administration of local anesthesia (2% lignocaine with 1:80,000 adrenaline), access opening was done under rubber dam isolation. Three root canal orifices were located (mesiobuccal [MB], mesiolingual [ML], and distal [D]) []. Working length was determined using radiographs (Ingle's method) and confirmed with an apex locator (Root ZXII, Morita, Tokyo, Japan). MB and ML canals were measuring only 4 mm. Cleaning and shaping was done for distal root with ISO 2% taper files up to size 40 (MANI Inc., Tochigi-Ken, Japan). MB and ML canals were enlarged till #3 GG drills (MANI Inc., Tochigi-Ken, Japan). Irrigation was done using 3% sodium hypochlorite solution (Prime Dental Products Pvt. Ltd., Maharashtra, India) and 17% EDTA (Prime Dental Product Pvt. Ltd., Mumbai, India). Final rinsing of the canal was performed using 2% chlorhexidine digluconate (Neelkanth Healthcare Pvt. Ltd., Rajasthan, India). Then, the canals were dried with paper points (Prime Dental Products Pvt. Ltd., Maharashtra, India), and a calcium hydroxide dressing was placed (Ultracal; Optident, Skipton, UK). To rule out the possibility of resorption involving other teeth, an orthopantomogram was taken which confirmed localized idiopathic apical resorption (LIAR) involving tooth 46 []. After 1 week, temporary restoration was removed and canals were cleaned and dried. The distal canal was obturated by lateral compaction of gutta-percha (Maillefer, Dentsply) and AH Plus resin sealer (Maillefer, Dentsply). The mineral trioxide aggregate (MTA) cement (ProRoot MTA; Dentsply Tulsa Dental, Tulsa, OK) was mixed according to the manufacturer's instructions and placed into the MB and ML canals using amalgam carrier and condensed vertically with hand pluggers (Maillefer, Dentsply) []. The tooth was then restored with a posterior composite resin core (Filtek Z250 3M ESPE, A2 shade/USA) followed by a full-coverage porcelain crown in the subsequent visit. Five-year follow-up revealed satisfactory result as the tooth was completely asymptomatic clinically with no mobility, and radiographically, there was no evidence of further furcal breakdown and resorption [].
A 78-year-old male with multiple comorbidities, including hypertension, hyperlipidemia, and type II diabetes mellitus, presented to our emergency setting with complaints of recurrent bouts of abdominal pain and fluctuating fevers for the previous two weeks. The patient reported that the pain is a new manifestation of a previously dull aching pain that had waxed and waned over the last decade. His description alluded to a pain that was sharp and intermittent with localization in the right upper quadrant. He could not attribute the intermittent nature of his predicament to any aggravating or relieving influences. The pain was associated with fluctuating low-grade fevers (99°F-100°F), anorexia, and an associated 13-pound weight loss, which culminated in a visit to our clinical setup.\nFurther interrogation disclosed that the patient underwent a laparoscopic cholecystectomy in 2003. The ensuing year was relatively pain-free but was followed by recurrent bouts of right upper quadrant pain, albeit less upsetting than his current presentation. He was subsequently diagnosed in 2005 with gallstone spillage. The patient chose conservative treatment for his abdominal pain, rather than invasive interventions, which included the administration of acetaminophen and non-steroidal anti-inflammatory drugs (NSAIDs). This treatment modality was sufficient for the duration of a decade. He presented to another medical facility with similar complaints of fever and abdominal pain in 2016. A computed tomography (CT) scan of his abdomen disclosed the presence of a necrotic phlegmon, which was subjected to aspiration. Its composition included a combination of fibrous material, granulation tissue, and inflammatory infiltrate. The aspiration provided considerable relief of symptoms and he was discharged on a gabapentin prescription that was well-tolerated and produced sustained amelioration of his pain, with only occasional wavering with respect to his baseline.\nThe initial assessment showed an elderly gentleman, who was alert and well-orientated but under considerable distress due to the abdominal pain and accompanying chills. He had a fever of 104°F, a heart rate of 120 beats per minute, a blood pressure of 95/70 mm Hg, and a respiratory rate of 19 per minute. An abdominal exam revealed a non-protuberant, soft, and tender abdomen with marked sensitivity in the right upper quadrant. He had perceptible bowel sounds, an absence of dullness on percussion, and a clear rectal vault. Pertinent initial laboratory investigations included an elevated white blood cell (WBC) count of 16,900/µL, C-reactive protein (CRP) of 6.5 mg/dL, and a random blood glucose (RBG) of 280 mg/dL. The patient subsequently underwent a whole body CT scan, which revealed a large 19-cm sub-diaphragmatic, right retroperitoneal abscess, which was inferior and posterior to the right hepatic lobe (Figure ).\nIn lieu of these findings, the patient was admitted and started on a combination of intravenous fluids, intravenous (IV) vancomycin and piperacillin-tazobactam due to an underlying suspicion of sepsis secondary to a hepatic and/or perihepatic liver abscess caused by a lack of gallstone retrieval following his cholecystectomy. He was subsequently subjected to a percutaneous CT-guided drain placement, which allowed for the evacuation of approximately 700 mL of grossly purulent material and provided prompt pain relief. The fluid sample was sent for a gram stain, culture, and a bilirubin assay. The gram stain of the abscess fluid revealed branching gram-positive rods concerning for Actinomyces, Nocardia, and Streptomyces; therefore, the patient remained on IV vancomycin and piperacillin-tazobactam, with the addition of trimethoprim-sulfamethoxazole (TMP-SMX) to the antibiotic regimen. Remarkably, the culture growth was positive for Propionibacterium and ampicillin-sulbactam was added to the list of antibiotics. Two days later, the patient was shifted to the intensive care unit (ICU) following unrelenting fever and persistent tachycardia, even after his abdominal drain placement was supplemented with vigorous antibiotic and antipyretic therapy. His ICU stay was complicated by episodes of dyspnea, tachypnea, and pleuritic chest pain, while a chest auscultation unveiled a decrease in breath sounds at the right basal region. A repeat CT scan confirmed the reduction in the size of the abscess and showed a new right-sided pleural effusion, which explained the patient’s breathing difficulties (Figure ).\nThe patient underwent an ultrasound-guided chest tube placement, which evacuated 10 mL of purulent fluid, followed by two doses of lytic therapy with tissue plasminogen activator (tPA) via the catheter. The following morning, he described an aggravation in his pleuritic chest pain, and an episode of shortness of breath, whereby, the oxygen saturation dipped to 90%. A new chest CT scan was ordered, which showed an interval increase in the right basilar opacity with a moderately sized pleural effusion (Figure ).\nHe was subsequently upgraded to a larger catheter via a CT-guided approach that evacuated a total of 900 mL of purulosanguinos fluid. The patient tolerated subsequent lytic therapies well and showed vast clinical improvement following this procedure, with a reduction in dyspnea, pleuritic chest pain, and fever, as well as a down-trending of his inflammatory markers.\nA repeat CT scan was performed on the 10th day of admission, which revealed a near-complete resolution of his right-sided pleural effusion, and a decrease in his right-sided retrohepatic intrabdominal abscess (Figure ).\nThe chest drain was removed and the patient was subsequently discharged with a transhepatic drainage catheter, daily intravenous ampicillin-sulbactam, and acetaminophen, as needed for pain control. The patient was shifted to oral amoxicillin-clavulanate a month after the resolution of his pain, fever, and stabilization of inflammatory markers. The transhepatic percutaneous drain was left in place in order to allow for the formation of a chronic drainage tract, with hopes of localizing the perpetrating gallstones at its base.\nTwo months after discharge, the patient underwent a procedure for upsizing the drain in order to accommodate for a choledochoscope into the abscess cavity and the maturing sinus tract. He subsequently underwent an abscess cavity endoscopy, whereby a catheter and scope were advanced into the cavity for exploration. An abscess catheter study was performed through the existing catheter and showed no filling defects, after which the catheter was removed and an endoscope was inserted for direct visualization of the main cavity, as well as the two “fingers” branching out of the abscess cavity. Two small stones were expelled after flushing the main cavity multiple times. Following the expulsion of the gallstones, a replacement catheter was advanced into the cavity and a second catheter study was performed to rule out the possibility of any other stones. The patient tolerated this intervention well and had no further drainage from the intra-abdominal drain.\nFollowing a lack of drain output and resolution of symptoms after his last endoscopic procedure a month ago, the patient's intra-abdominal drain was removed. The patient is currently stable and is being followed as an outpatient to date.
Our patient is a 15-year-old girl born in Sweden after 40 weeks gestation as the third of four siblings from Assyrian consanguineous parents originating from Iraq. Contact with the national health system was sparse until the age of 5 years, when she presented with sensorineural hearing impairment and developmental delay. After application of bilateral hearing aids her development accelerated in all domains. In retrospect her parents reported frequent loss of balance as a toddler. Our patient was referred from her school physician to a child neurologist at the age of 7 years and 8 months due to her toe-walking gait. Except for her Achilles tendons being tight, almost spastic, no other neurological abnormality was noted. Brain imaging at the age of 8 years showed a central lesion in the mesencephalon, from the nucleus ruber dorsocaudally down to the cerebellar peduncles. A magnetic resonance imaging (MRI) scan of her spine was normal. After physiotherapy and orthoses her gait improved, but her motor skills were still abnormal for her age. At the age of 12 years she showed bilateral muscle weakness on her peroneal muscles with absence of peripheral reflexes. Neurography and electromyography showed sensorimotor polyneuropathy and chronic neurogenic changes in her leg muscles. An MRI scan of the brain was repeated showing the same lesion as described at the age of 8 years (Fig. ). At the age of 13 she presented cognitive delay, impaired gross and fine motor skills, and tremor. At this point, a neurometabolic disease was considered. At the age of 14 she presented learning difficulties and obvious generalized muscle weakness. Her fingers are extremely flexible, her feet are in plan valgus position and she has problems with her balance. At the age of 15 she shows no signs of puberty. Growth is also delayed with a skeletal age of 10.7 at chronological age of 14. Hormonal tests have shown nonfunctioning ovaries. She has no retinal changes and normal optic nerves. One of the younger sisters presents some learning difficulties.\nBlood metabolites were analyzed twice when our patient was 13 years (Table ). Her plasma levels of C26:0 were moderately increased resulting in an increased C26:0/C22:0 ratio. The C24:0/C22:0 ratio was borderline normal. Her phytanic and pristanic acid levels were significantly increased at both sampling occasions. Her erythrocyte plasmalogen levels were normal. Because of the abnormal VLCFA and phytanic and pristanic acid levels further peroxisomal studies in fibroblasts were performed. Remarkably, her VLCFAs and DHAPAT activity in cultured fibroblasts were normal (Table ).\nImmunofluorescence microscopy analysis using antibodies raised against catalase, a peroxisomal matrix protein, did show abnormal peroxisomal staining but not in all cells. When cultured at 37 °C most cells revealed a normal peroxisomal staining, but in some cells a markedly reduced number of peroxisomes was observed. Culturing patient fibroblasts at 40 °C for 2 weeks resulted in a complete absence of peroxisomal staining with catalase immunofluorescence microscopy analysis, indicating the lack of import-competent peroxisomes at this elevated temperature (Fig. ). These results showed that our patient suffered from a Zellweger spectrum defect.\nMutation analysis was performed by using a custom-made next generation sequencing (NGS) gene panel (SureSelectQXT, Agilent Technologies, Santa Clara, CA, USA). The panel targets coding exons of 21 genes described to be involved in peroxisomal disorders including the 13 PEX genes (+/- 25 bases, according to RefSeq database and assembly Feb. 2009 (GRCh37/hg19)). Variants of interest were filtered according to allele frequency, exonic/splice site location and autosomal recessive or X-linked pattern of inheritance. NGS analysis identified only one variant of potential clinical significance, namely a homozygous mutation (c.530 T > G (p.Leu177Arg) (NM_153818.1)) in the PEX10 gene. This variant is not present in HGMD® Professional database (Biobase, Qiagen®, Redwood City, CA, USA) or ClinVar [], but has a very low allele frequency in the normal population according to 1000 genome database [], is classified as probably damaging by PolyPhen and deleterious by SIFT and affects a highly conserved amino acid. The result was verified by Sanger sequencing and targeted sequencing on the parents showed the expected segregation pattern (Fig. ). To confirm the PEX10 defect in the patient we performed complementation studies at 40 °C by co-transfection of wild-type PEX10 and PTS1 (peroxisome targeting sequence 1)-tagged green fluorescent protein (eGFP-SKL) in the patient’s fibroblasts. Three days after transfection there was restoration of PTS-1 protein import, confirming that PEX10 is responsible for the peroxisomal dysfunction in our patient (data not shown).
A 40-year-old woman presented with a painless movement restriction of both shoulder joints, complicating activities in daily life such as personal hygiene and lifting her child.\nOne year ago, 5 days postpartum, respiratory insufficiency developed. She was admitted to the ICU and diagnosed with metastasized choriocarcinoma (lungs, liver, and kidney). Curative chemotherapy was started. She developed ARDS, further complicated by multiple organ failure, critical illness polyneuropathy, and bowel perforations, necessitating mechanical ventilation, alternating prone, and supine positions for several months for a better ventilation of the lungs. After 3 months, she was discharged and rehabilitation was initiated.\nOn examination, there was a global atrophy of shoulder musculature, with a fixed position of both shoulders at 20° of abduction and 45° of internal rotation. Shoulder movement was exclusively scapulothoracic. Active abduction was 60° bilaterally, and anteflexion was 45° in the right shoulder and 90° in the left shoulder (). No neurovascular deficits were present.\nX-rays of both shoulder joints showed an identical osseous mass between the humerus and scapula (). Magnetic resonance imaging (MRI) () and three-dimensional reconstruction computed tomography images () showed complete bony bridges, located in the teres minor muscles. Also, isolated ossifications in the subscapularis muscles and avascular necrosis (AVN) of both humeral heads were demonstrated. The AVN of the humeral heads was thought to be a consequence of the corticosteroid therapy at the ICU or, less likely, changes in vascularization due to compression or traction by the bony bridges.\nSurgical resections of the osseous bridges via posterior approaches in 2 separate sessions were planned, starting with the left, nondominant side (). Five months later, her right shoulder was operated in the same manner.\nA posterior vertical incision was made from the posterolateral edge of the acromion in the direction of the axilla. After dissecting the subcutis and fascia, the posterior part of the deltoid muscle was mobilized. A large ossification appeared, which coursed the route of the teres minor muscle. A release of the triceps muscle was performed to gain full insight into the ossification. The native scapula was identified and dissection continued to the posterior side of the humerus, craniolateral to the axillary foramen. The bony bridge between the humerus and scapula was completely freed. A vertical osteotomy was performed along the lateral margin of the scapula, using an osteotome. The radial nerve coursed flush behind the ossification and was carefully protected while removing the bone, sometimes necessitating the use of a punch (). Nearly complete resection of the bony bridge was achieved without nerve damage, which improved the abduction immediately in contrast to rotation, which showed no improvement. The absence of rotation was thought to result from a frozen shoulder, since the ossification of the subscapularis muscle did not connect with surrounding bones, as seen on the MRI. After gentle manipulation, full rotation could be achieved. The shoulder joint was infiltrated with a corticosteroid and a local anesthetic, and the deep and superficial layers were closed with soluble sutures. Postoperative treatment was functional without any movement restrictions, guided by pain and under the supervision of a physiotherapist. We prescribed a 2-week course of a nonsteroidal anti-inflammatory drug (NSAID; diclofenac 2dd 75 mg) to prevent recurrence of heterotopic ossifications.\nAt follow-up visits, the patient demonstrated a significant improvement of shoulder function with 160° of abduction bilaterally, of which 90° glenohumeral motion, 90° of internal rotation and 10° of external rotation. She was able to take care of her hygiene and lift her child again (). Strength of the rotator cuff was graded 5/5 when evaluated with the Medical Research Council Scale, and no postoperative complications, pain, or recurrence of HOs were noted on 1-year follow-up X-rays (). The AVN of the humeral heads was managed conservatively due to lack of symptoms.
A 26-year-old male without any significant past medical history initially presented to an outlying facility for being struck by lightning while storm chasing. According to bystanders, he was standing on a concrete pylon when the lightning struck, and he was thrown an unknown distance from the pylon. He was next seen at the side of a bystander’s vehicle partially clothed and confused (). He was taken to the nearest emergency department (ED) immediately.\nAccording to the medical record at the outlying ED, he arrived neurologically intact with stable vital signs. After receiving pain medication and 3 L of normal saline, he was transferred to a Level 1 trauma center via ambulance. On arrival, he was awake and alert with complaints of muscle cramping, bilateral ear pain, and amnesia to the actual event.\nHis initial vital signs were within normal limits and he was neurologically intact. He was found to have mild bilateral otorrhea with bilateral tympanic membrane ruptures. He also had superficial partial thickness cutaneous linear burns that extended from the sternal notch down the anterior chest and abdomen in the midline (), splitting to travel down the medial aspect of each thigh and calf, ending at the medial malleoli bilaterally (). It was determined that this burn was approximately 13% of his body surface area. The remainder of his physical examination was normal with no other evidence of traumatic injury.\nInitial laboratory values were drawn and were unremarkable with the exception of an elevated creatine kinase (CK). An electrocardiogram was obtained and demonstrated normal sinus rhythm with a right bundle branch block. A chest X-ray showed no acute cardiopulmonary disease. Computed tomography (CT) scan of the head revealed no acute intracranial process; however, there was a small amount of fluid in the left mastoid air cells and middle ear without clear evidence for temporal bone fracture. CT of the facial bones, cervical spine, thoracic spine, and lumbar spine were negative for acute fracture. CT angiogram of the chest showed ground glass opacities in the bilateral lung apices consistent with pulmonary edema ().\nThe patient received 3 L of normal saline at outlying facility and was continued on maintenance fluids calculated by the Parkland formula on arrival to the ED at the Level 1 trauma center. A Foley catheter was placed for accurate measurement of urine output. Additionally, he was given intravenous pain medication and ciprofloxacin otic drops in his bilateral ear canals. He was admitted to the hospital for observation on the trauma service with an otorhinolaryngology (ORL) consult.\nOnce admitted, maintenance fluids were continued and his laboratory values were monitored closely. ORL recommended dry ear precautions and suggested follow-up for audiogram in 4 to 6 weeks. Wound care evaluated the patient and dressed his anterior chest and abdominal burns with silver sulfadiazine. His CK was monitored closely and results are listed in . Urine output stayed above 1 mL/kg/h. During his hospital stay, he did have several episodes of severe muscle cramping. He did receive morphine, phenergan gel, and zofran as needed throughout his stay. He was discharged on hospital day 2 with his pain well-controlled and was given follow-up for burn care and his hearing loss.\nThe patient did follow-up with ORL and had to undergo tympanoplasty of both ears and sustained permanent hearing loss. He also followed-up with cardiology and his bundle branch block had resolved completely. According to the patient, his burns healed fairly quickly; however, the lower portion of his abdomen does still have some significant scarring. At 10 weeks after sustaining the lightning strike, the patient reported some hearing loss and memory disturbances, as well as psychological stress and anxiety associated with the event.
A 59-year-old paraplegic male presented to the emergency department with progressive prolapse of the bladder through his SPC site. He had a gunshot wound in 1990, which resulted in spinal cord injury and paralysis below T8, and in 2006, he underwent SPC to manage neurogenic bladder.\nOn presentation, physical examination revealed malodorous and necrotic appearing bladder mucosa protruding through the SPC site. Patient had associated diffuse abdominal pain but denied any fevers, flank pain, hematuria, increase or decrease in urinary output.\nPatient consented to a cystectomy with an ileal conduit. A cystoscopy was performed prior to the procedure that revealed swelling and necrosis around the prolapsed bladder tissue. Multiple diverticula were noted, however, no stones or masses were appreciated.\nThe surgery was performed as a combined procedure by both the urology and the general surgery team without any complications. All of the necrotic tissue surrounding the prolapsed area were debrided until healthy tissue was encountered. The fascia was closed, however, the skin was left open due to the state of the prolapsed bladder through the skin. Packing was adequately placed with a wound vacuum assisted closure (VAC) over it. Patient was then transferred to the post anesthesia care unit in stable condition.\nThe histopathology of the bladder revealed stage IIIA (T3b) invasive and poorly differentiated urothelial cell carcinoma (Fig. ) with areas of mullerian and squamous cell carcinoma features (Fig. ). Histology also showed areas of necrosis and acute inflammatory changes.\nSix days after the operation, when changing the midline wound VAC dressing, bowel evisceration was noted at the lower aspects of the wound. Patient was taken back into the operating room that evening. The midline fascia was readily separated and remaining abdominal sutures were gently divided. Upon immediate inspection, the patient was noted to have necrotic fascial edges and subcutaneous tissue. Subsequently, using a combination of sharp dissection and electrocautery, the abdominal wall subcutaneous tissue was debrided. After successful debridement to attain healthy tissue margins, mesh was used to repair the fascial defect, as the fascia could not be re-approximated in a circumferential manner. After this was completed, the subcutaneous tissues were thoroughly irrigated and a new VAC dressing was placed. The abdominal tissue was sent to pathology and histology showed necrosis and microabscess formation.\nTwo days following the debridement and evisceration repair, the patient decompensated and a rapid response was alerted. At that time, the patient was febrile, tachycardic, hypotensive, short of breath and had altered mentation. He was intubated and started on fluids and antibiotics for treatment of acute respiratory failure secondary to septic shock.\nPatient was brought back to the operating room for further debridement due to possible necrotizing skin infection. Necrotic mesh was removed and after adequate tissue debridement, an open abdomen negative pressure therapy system (ABTHERA) was placed over the abdomen.\nPatient subsequently returned to the operating room on two additional occasions for further debridement secondary to continued necrosis of the abdominal wall. He remained intubated, sedated and on multiple pressors and broad-spectrum antibiotics.\nUnfortunately the patient continued to decompensate and remained hypotensive with multi-system organ failure. Escalation of care was refused and only supportive care was continued.
This case involves a 60-year-old male with a history significant for benign prostatic hyperplasia, hypertension, and insulin-dependent diabetes who presented in July 2017 with diabetic ketoacidosis and Fournier’s gangrene. The patient’s treatment course for Fournier’s gangrene subsequently consisted of multiple operative debridements, an intensive care unit (ICU) admission, and ultimately a penectomy in July 2017 (Figure ). He continued his post-discharge follow-up at an outside hospital for recuperative care as he became homeless during this time. He received wound care with home healthcare and continued to undergo a follow-up in the outpatient clinic at the urology and plastic and reconstructive surgery departments, where he discussed his desire to undergo penile reconstruction. After discussing all treatment options as well as the risks and benefits of the surgery, the patient agreed to move forward with surgical reconstruction. The patient obtained consent for a free flap procedure, and plans were discussed to proceed with a radial forearm reconstruction of his penis.\nThis procedure involved phallus and neourethra construction utilizing a single radial forearm free flap. First, a 12-cm circumferential circle was marked and dissected out at the planned penis insertion site. Next, two branches of the dorsal penile nerve were carefully isolated and dissected out along with the left deep inferior epigastric and vena comitans that provided approximately 8 cm of pedicle length. An 8-cm segment of the great saphenous vein was also dissected out and transposed to the inferior epigastric vessels to assist with the flap anastomosis. The recipient vessels and nerves were now defined and attention was turned to harvesting the radial forearm free flap. The radial forearm free flap was lifted in the subfascial plane, while special attention was given to preserving the cephalic vein, the basilic vein, and the radial sensory nerve. The medial and lateral antebrachial cutaneous nerves were then isolated, and the flap was fashioned into a neophallus and urethra prior to vessel and nerve ligation. Once completed, the nerves and vessels were ligated, the flap was transferred to the groin for microsurgery, and the radial forearm donor site was covered with Integra (Integra LifeSciences, Plainsboro, NJ). The radial artery was anastomosed with the left deep inferior epigastric artery, two vena comitans were coupled to the greater saphenous vein, and two nerves were coapted to the dorsal penile nerve stump. The procedure was concluded and the patient was transferred to the ICU in stable condition. Postoperatively, the patient developed a 1 x 1.5-cm2 area of distal flap tip necrosis that resolved following conservative treatment with daily topical Silvadene. The patients remained in the ICU postoperatively for close flap monitoring and nutritional optimization, and he was discharged 14 days following the procedure. The postoperative course was complicated by a flap and donor-site infection requiring debridement of both sites with subsequent resolution of the infection. The patient is pending anastomosis of his neourethra to his native urethral stump by the urology department. The patient currently has a catheter in place for a urinary function that will be removed only after the neourethral anastomosis is complete. Should the patient desire the ability to maintain an erection for sexual activity, he would require an additional surgery for penile prosthesis placement. The patient has reported preserved sensation in the phallus and expressed satisfaction with his result.
A 4-year-old boy on PD due to end-stage kidney disease resulting from bilateral hypoplastic kidneys, was admitted to our hospital with the complaints of fever, abdominal pain, and cloudy peritoneal effluent on PD, 1 day after biting and accidentally opening the PD catheter while in the bath. He was planned to receive living related KT from his father.\nHis vital sign was the following: temperature of 37.0 °C, blood pressure of 96/48 mmHg, pulse of 144 beats per minute. On physical examination, he appeared fine and his extremities were not cold. There was no abdominal tenderness or other signs of peritoneal irritation. The catheter exit site was clear. Laboratory examination at admission showed the following: white blood cell count, 8180/μL; C-reactive protein, 3.17 mg/dL; and dialysate cell count, 775 /μL with 74% polymorphonuclear leukocytes. Although the peritoneal fluid culture was negative, he was clinically diagnosed with bacterial peritonitis and started on intraperitoneal vancomycin and ceftazidime. His condition improved promptly after admission, and his white blood cell count in the PD fluid returned to normal on day 7 after hospitalization. He was discharged after completing the 2-week antibiotic therapy.\nHe was readmitted due to fever 37 days after the discharge. His vital signs were as follows: temperature, 38.3 °C; blood pressure, 102/56 mmHg; and pulse, 112 beats/min. He had no abdominal pain, and the catheter exit site was clear. Abdominal computed tomography showed no evidence of encapsulating peritoneal sclerosis or abscess. However, due to a dialysate cell count of 1160/μL accompanied with persistent fever, the patient was started on intraperitoneal vancomycin and ceftazidime on day 5 after readmission, with consideration of relapse of bacterial peritonitis.\nAlthough the bacterial and viral cultures of peritoneal fluid and blood culture were negative, the mycobacterial culture of peritoneal fluid became positive on day 9 after readmission. Interferon gamma release assay for tuberculosis and tuberculin test were negative, and atypical mycobacteria were suspected; therefore, the antibiotics were changed to clarithromycin, ciprofloxacin, and meropenem, considering rapid growing mycobacteria. The PD catheter was removed on day 19 after readmission, and hemodialysis was initiated using a cuffed 18-gauge catheter inserted in the internal jugular vein. Finally, M avium was identified on day 30, and we diagnosed him with MAC peritonitis that occurred on PD. The antibiotic therapy was changed to clarithromycin (5 mg/kg/d), ethambutol (20 mg/kg alternate-day treatment), and rifampicin (10 mg/kg/d) (Fig. ). The patient's fever gradually improved, finally resolving in 1 month.\nThe 1-year anti-mycobacterial therapy was completed without any adverse events. We decided the plan of >6-month observation period after the treatment completion to confirm no recurrence of MAC peritonitis before proceeding to KT. He eventually received ABO-compatible living-donor KT from his father 8 months after the completion of anti-mycobacterial therapy. His post-transplant immunosuppressive regimen comprised methylprednisolone (mPSL), tacrolimus (Tac), and mycophenolate mofetil (MMF) (Fig. ). His renal function was stable with a creatinine-estimated glomerular rate of 56.0 mL/min/m2 and no recurrence of MAC peritonitis at last follow-up 2 years after the KT.
A 16-year-old female patient was admitted to the emergency unit complaining of a pulsatile, frontal headache over the last 12 hours accompanied by nausea with photo- and phonophobia. The symptoms evolved with diplopia, difficulty in performing adduction of the right eye, and dysarthria; imbalance started subtly about 1 hour after the onset of pain. The patient reported that at the beginning of the symptoms she presented partial loss of vision on the lateral field of the right eye, scotomas, and blurry vision, which lasted about 30 minutes, with spontaneous resolution. She denied fever or any other neurological complaint, or the use of oral contraceptives. She took dipyrone before going to the emergency department. Her medical history included the diagnosis of migraine that started with the menarche at the age of 10 years, when she began presenting premenstrual migraine of variable intensity with visual aura, with predominant laterality also variable. The previous aura was characterized from scotomas, blurred vision, tunnel vision, and partial loss of vision, which was always reversible, with a maximum duration of 60 minutes. The patient did not remember having presented symptoms like diplopia or ataxia during previous events.\nThe physical examination revealed tachycardia, blood pressure of 150/80 mmHg, and a normal temperature. The neurologic examination revealed a wakeful, vigilant, and cooperative patient. Visual acuity was normal and without alterations on the field of vision; her pupils were isochoric and the direct response, the consensual response, and the accommodation of the pupils were normal. Paresis of the right eye when looking to the left was present (), as well as diplopia, and a slow saccadic movement of the left eye in abduction, with horizontal nystagmus with the preservation of ocular convergence. Other cranial nerves presented normal function. Strength, sensitivity, and deep reflexes were preserved and symmetric. At the examination of station when the patient’s feet were close together, she swayed backward, which was slightly worsened when she closed her eyes. Her gait was ataxic and she had a fall tendency to the left. Diadochokinesis, appendicular movement speed, and the finger-to-nose test were normal, but the heel-shin test was dysmetric at the left side. Other systems showed no abnormalities.\nNo improvement in the neurologic examination was noted after the patient was medicated with metoclopramide, ketoprofen, and dexamethasone; however, the pain and nausea did cease. The patient was hospitalized and submitted to a thorough etiological investigation.\nThe cerebral computed tomography (CT) and the angiotomography were normal. On the second day of hospitalization, a partial improvement of the symptoms was noted, but the diplopia remained steady. The cerebral magnetic resonance imaging (MRI) showed a focus of diffusional restriction in the paramedian right dorsal portion of the midbrain, which was consistent with the topography of the ipsilateral medial longitudinal fasciculus, without significant expansive effect, exhibiting hyperintense focus in T2 and fluid-attenuated inversion recovery (FLAIR), which did not show impregnation by the contrast medium (). The cerebral () and cervical MRI angiography and the cerebrospinal fluid analysis with protein electrophoresis were normal. The electrocardiogram (ECG), echocardiogram, and Holter ECG were normal. Biochemical analysis and thyroid function tests were normal. Antinuclear antibodies (ANA) was positive 1/640 exhibiting a fine nuclear dot pattern. However, antibodies anti-SS-B/LA, anti-SS-A/Ro, anti-SM, anti-double strain DNA, anti-neutrophil cytoplasmic antibody, and lupus anticoagulant tests were negative. Complement fractions C3 and C4 were normal. Anti-HIV, HBsAg, and anti-hepatitis C virus were negative. Acute phase proteins, serum lactate, and muscle enzymes were normal. The serum dosage of protein C, homocysteine, and antithrombin III tests were normal. The search for factor V Leiden was negative.\nThus, the clinical features, the imaging examinations, and the thorough investigation were consistent with the diagnosis of cerebral infarction without any risk factor other than migraine. The patient was prescribed salicylates and propranolol with gradual improvement. She was referred to an outpatient clinic for follow-up.
A 59-year-old female patient presented to a plastic surgery clinic with a lump on her right medial thigh. She noticed the lump eight months ago and it was gradually increasing in size. It was painless initially; however, the lump gradually became tender. The patient was otherwise fit and well with no co-existing morbidities. Closer examination of the right thigh revealed a high consistency mass, with reduced mobility. There was no right inguinal lymphadenopathy or lymph nodes enlargement.\nLaboratory blood tests were unremarkable. An MRI scan was requested to further assess the mass, which was irregular but well-defined in the medial compartment of the thigh, measuring 8.2 x 6.6 x 4.3 cm in size. The mass showed an intermediate signal on both T1 and T2-weighted imaging, appearing hyperintense compared to the adjacent muscular tissue, which also persisted on fat-suppressed imaging. The mass invaded the intramuscular fat planes and caused compression and displacement of the adductor muscles. There was no evidence of intra-muscular invasion. Normal cortical outline and medullary signal intensity of the femur were seen in the right thigh. There was no evidence of bone contusion, marrow oedema, fracture line, or cortical discontinuity. Other muscles of the thigh had a normal outline and signal intensity with no evidence of focal or diffuse oedema. Neurovascular structures were unremarkable. Overall, MRI findings were suggestive of soft tissue neoplasm, with a possibility of a neurogenic tumour. A wide excisional biopsy was then performed to further assess the tissue histologically by the pathologist and confirm the diagnosis. The removed mass measuring 8.5 x 6.5 x 5.4 cm and is shown in Figure . The mass had a smooth outer surface and a soft consistency. The cut surface showed a homogenous tan-white appearance with some slit-like spaces and occasional haemorrhagic spots. Multiple sections were processed for histopathological examination from different planes.\nHistopathology of the mass revealed a tumour arranged in sheets and fascicles composed of round to oval cells along with variably sized adipocytes (Figure ). Numerous interspersed lipoblasts with indented nuclei were also seen. Moreover, severe nuclear atypia was noted including bizarre cells (Figure and Figure ). An area of necrosis was seen with a few areas, which showed malignant and fibrous histiocytoma-like features. Furthermore, a few thin-walled dilated and congested blood vessels were also noted. Also, brisk mitosis was noted (35-38 per 10 HPF) (Figure ). Immunohistochemical staining (IHC) was also performed and the tumour cells were diffusely positive for vimentin and focally positive for S-100; while negative for creatine kinase (CK), smooth muscle antigen (SMA), desmin, CD34 and MyoD1. Overall, the pathological findings are all suggestive features of a high-grade sarcoma, favouring the epithelioid variant of PLS.\nThe patient was also referred to the Department of Nuclear Medicine & Molecular Imaging for post-surgical restaging and assessment for possible metastases using 18F-fluorodeoxyglucose positron emission tomography-computed tomography (18F-FDG PET-CT) scan. The abdominopelvic section showed the liver measuring within normal limits; however, the scan revealed an ill-defined hypermetabolic hypodense lesion seen involving segment VI measuring approximately 2.8 x 1.8 cm suggestive of hepatic metastases with concurrent fatty liver. The scan was also remarkable for the musculoskeletal system, revealing multiple hypermetabolic osseous lesions involving the skull base, right iliac bone, and few vertebrae (predominantly T7-L1); which was suggestive of skeletal metastases. A non-hypermetabolic pulmonary nodule in the right lung field was also detected; it was considered to be likely benign, but interval scanning is suggested to monitor further progress. Finally, there was also evidence of diffuse subtle hypermetabolism at the site of surgery which is suggestive of postsurgical inflammatory sequelae; however, microscopic residual disease cannot be completely ruled out. These multi-organ lesions were due to be biopsied to examine their immunohistochemical findings to confirm metastatic lesions of primary pleiomorphic liposarcoma. However, the patient did not attend the follow-up appointments.
A 44-year-old man presented to his primary care provider for a right proximal clavicular mass and enlarging neck for six months that he attributed to an injury from Jujitsu. The patient endorsed mild pain in the area but denied dysphagia, dysphonia, choking, or shortness of breath. The patient reported 20 lbs of weight loss. He denied hypoesthesia or motor deficits. On physical examination, a firm 8 cm mass was fixed to his right clavicle. There was palpable thyromegaly, the right lobe more prominent than the left, but there was no cervical lymphadenopathy and no significant motor or sensory deficits. Initial workup with an X-ray of his right clavicle revealed a large soft tissue density mass extended to the midline of the right proximal clavicle. A subsequent soft tissue neck ultrasound confirmed a 5.4 × 3.6 cm mass extending from the thyroid with features of increased vascularity and calcification extending from the thyroid (). CT of the neck showed extension of the mass into the adjacent sternoclavicular junction with osteolysis of the middle third of the clavicle and the superior aspect of the sternum body (). Due to suspicion of thyroid malignancy versus osteosarcoma, fine-needle aspiration of the mass was completed that showed a cohesive nest of neoplastic cells, and the nuclei were enlarged with pleomorphism. Focal calcification was noted, but there was no evidence of colloid or macrophages on multiple passes. Immunohistochemical stains were performed on the cell block, and the neoplastic cells were immunoreactive for TTF-1, PAX8, CK7, and thyroglobulin, and they were negative for CK20, calcitonin, synaptophysin, or chromogranin (). The overall findings supported the diagnosis of papillary thyroid carcinoma. To assess the extent of the mass for total thyroidectomy, a chest CT scan with contrast confirmed marked enlargement of the right thyroid gland, measuring 5.3 × 7 × 4.9 cm, with invasion into the right proximal clavicle, adjacent strap muscles, and first rib as well as tracheal deviation and extension into the mediastinum.\nThe oral and maxillofacial surgery team performed a composite resection of the tumor, including a segmental osteotomy of approximately two-thirds of the medial clavicle. In continuity with the suprasternal and clavicular portion of the mass, the cardiothoracic surgery team performed a sternotomy to access and resect the substernal component, dissecting it off the first rib and manubrium without a segmental osteotomy. The great vessels were dissected and preserved with dissection of the mass off the superior mediastinum and thoracic inlet. The maxillofacial surgery team continued cephalad to perform a total thyroidectomy. Left levels 2–4, right levels 2–5, and bilateral central compartment selective neck dissections were completed. The mass was then delivered en bloc. The right sternocleidomastoid and strap muscles were sacrificed due to tumor involvement, but all other structures were dissected and preserved, including bilateral recurrent laryngeal nerves and the brachial plexus ().\nPostsurgically, the patient's serum calcium was low 7.9 mg/dL with simultaneously low PTH 9 pg/mL and low 25-hydroxyvitamin D 16.8 ng/mL. Thyroglobulin was markedly high at 15655.0 ng/mL (confirmed on dilution), and thyroglobulin antibody <1.0 IU/mL. Pathological examination of the right thyroid and clavicle showed PTC with extrathyroidal extension and clavicle involvement (staged pT4a pN0) with margins and lymph nodes negative for carcinoma (). The tumor showed a predominantly solid pattern with areas of the follicular pattern, but there were no cribriform areas identified. Immunohistochemical stain for beta-catenin showed no evidence of nuclear staining, which is not compatible with the morular pattern of papillary thyroid carcinoma. Next-generation sequencing revealed KRAS Q61 R mutation, and the following mutations were not detected: BRAF, HRAS, TP53, PTEN, TERT, RET, NTRK, and PPARg. The left thyroid showed benign pathology. Due to the perceived need for treatment with radioiodine therapy, the patient was not discharged home on levothyroxine, but was given supplemental calcium and vitamin D with subsequent follow-up with endocrinology.\nPostoperatively, the patient's course was complicated by a large expanding left neck hematoma that developed after a fall at home. The patient was readmitted and underwent an emergent hematoma evacuation without further incidence. He was able to follow up with endocrinology with laboratory studies at that time showing serum calcium was 8.6 mg/dL, TSH > 150.00 mIU/L, and free T4 0.2 ng/dL. He was started on calcitriol 0.5 mcg daily), vitamin D 50,000 units weekly, and calcium 1000 mg 4 times daily. Levothyroxine was held at this time with a plan for radioactive iodine treatment. On follow-up, an iodine-123 whole-body scan noted increased uptake over the lower lumbar spine that was suspicious for skeletal metastasis. A positron emission tomography (PET) scan confirmed a high fluorodeoxyglucose (FDG) avid lytic lesion along the posterior element of S2 with a maximum standardized uptake value (SUV) of 13.32. Magnetic resonance imaging (MRI) also revealed an enhancing sacral mass measuring 3.4 cm × 3.3 cm × 2.7 cm at the level of posterior elements of S1 extending to the sacral canal, causing severe sacral canal stenosis. There was a mass effect upon the traversing bilateral S2 nerve roots. These findings were consistent with metastatic disease.
An 81-year-old man was admitted from a skilled nursing facility (SNF) due to severe generalized fatigue, elevated creatine kinase (CK) levels above 2000 U/L, and elevated creatinine of 1.6 mg/dL. His medical history was significant for coronary artery disease with cardiac stent placement two months before admission. His history was also significant for diabetes, hypertension, herniated lumbar disc-related back pain, and dysphagia.\nThe patient was in a normal state of health two months before admission and used to play golf three times per week. According to his family, following his cardiac stent placement two months ago at an outside facility, his condition worsened. He developed proximal muscle weakness, generalized deconditioning, dysphagia, and he sustained multiple falls. The patient was admitted to our facility one week ago with shortness of breath. He was admitted and subsequently treated with antibiotics due to suspicion of aspiration pneumonia. During that hospitalization, we conducted an esophagogastroduodenoscopy as a workup of dysphagia with dilatation of the esophagus. His liver enzymes were also found to be elevated, and his gallbladder was distended in the absence of a gallstone. His liver function test results were thought to be elevated due to rosuvastatin, and the medication was stopped. The patient was discharged to rehabilitation after treatment of aspiration pneumonia. He was also on a dexamethasone tapering dose for his chronic back pain and shortness of breath.\nAt the SNF, the patient could not participate in therapy due to muscle weakness and could not eat solid foods because of progressive dysphagia. He was readmitted for generalized fatigue and elevated CK and creatinine levels, as noted. Diffuse muscle weakness strength (Grades 3 to 4/5 in his lower extremities) was noted. His straight leg raising test was positive bilaterally. His laboratory workup was significant for elevated erythrocyte sedimentation rate (28 mm/h), aldolase levels (19 U/L), and CK levels (2315 U/L). The initial differential diagnosis included rhabdomyolysis, dermatomyositis, polymyositis, steroid-induced myopathy, and statin-induced myopathy. He was started on intravenous (IV) hydration.\nConsidering his muscle weakness and elevated CK levels, a rheumatologist was consulted. The patient underwent a workup, including myositis panel, extractable nuclear antigen antibodies panel, anti-double-stranded DNA antibody test, anti-histidyl-transfer ribonucleic acid synthetase antibody test, and anti-3-hydroxy-3-methylglutaryl-coenzyme A (anti-HMG-CoA) reductase antibody test. All test results were negative except his anti-HMG-CoA reductase antibody levels (28.7 U/mL), raising high suspicion of necrotizing autoimmune myositis. The patient’s statin was halted one week prior during a recent hospitalization. A muscle biopsy showed many randomly scattered necrotic fibers and some underlying phagocytosis but no vasculitis or focal endometrial fibrosis (Figures , ). No endometrial or chronic perivascular inflammation was found, which confirmed the diagnosis of statin-induced necrotizing autoimmune myositis (SINAM). The patient was initially started on IVIG (25 mg daily) based on body weight for three days, followed by hydrocortisone (100 mg every eight hours) and mycophenolate mofetil (500 mg twice daily). He continued to have progressive dysphagia that worsened to the point that he had difficulty managing his secretions. The hospital course was complicated by recurrent aspiration pneumonia and thrombocytopenia. Due to his condition and multiple comorbidities, the family decided on hospice care. The patient was taken off mycophenolate mofetil and discharged to hospice care.
A 55-year-old gentleman, ex-smoker, presented to our hospital complaining of mild epigastric pain, regurgitation, and heartburn. On top of that, he has a long-standing history of gastroesophageal reflux disease (GERD), which was managed by proton pump inhibitors. His past medical history was significant for hypertension. He was previously diagnosed with a liver hemangioma based on abdominal ultrasound two years before the presentation. He had no relevant family history. Physical examination revealed mild epigastric tenderness with no palpable abdominal mass. Laboratory data showed no anemia but positive stool occult blood test. Tumor markers including AFP, CEA, and CA 19-9 were all within normal range. Upper GI endoscopy revealed mild esophagitis, Los Angles grade A along with Barrett's esophagus without dysplasia and a 1 cm polyp at the GEJ. A sample was sent for histopathology; the rest of the stomach and duodenum were normal. The patient did not have a previous endoscopy prior to this one.\nInfused computed tomography (CT) of the abdomen and chest showed mild GEJ thickness with no evidence of mediastinal or celiac lymphadenopathy and no signs of metastasis. It also demonstrated a large heterogeneously enhancing mass about 6 × 9.5 cm with central necrosis in the upper abdomen that appears to be originating from the gastric antrum (greater curve). The mass was highly suggestive of GIST based on CT; it was the same mass that was previously misdiagnosed as a liver hemangioma (). Endoscopic ultrasound confirmed the previous findings. However, no biopsy was attempted due to the risk of bleeding.\nHistopathological examination of the GEJ polyp revealed tubulovillous adenoma with elements of adenocarcinoma in situ. The patient was admitted with a provisional diagnosis of early-stage adenocarcinoma of GEJ along with the incidental finding of enlarging gastric GIST. A trial of endoscopic mucosal resection of GEJ polyp was attempted but failed because of the polyp location that created a technical difficulty. Therefore, the patient was taken to the operating room with a plan to perform a wedge resection of the gastric mass and a submucosal resection of GEJ polyp through the same gastric opening. We planned to use frozen section (FS) to document negative margin resection and determine the need for a formal esophagectomy. Intraoperatively; a large (10 × 7 × 6 cm), extraluminal pedunculated mass was found at the posterior wall of the greater curvature of the stomach (). Wedge resection of the gastric mass with negative margins was achieved along with a transgastric submucosal resection of the GEJ polyp. Fortunately, the FS examination of the polyp showed negative margins as well with no evidence of deep invasion. Postoperatively, the patient had a smooth course and was discharged home in a stable condition. The final pathological examination revealed a GEJ polyp around 1.7 × 1.4 × 0.6 cm. Microscopically, there was a focus of invasive adenocarcinoma involving the superficial submucosa of the polypoid lesion, negative margins, and no lymphovascular invasion (T1a NxM0). Furthermore, the gastric wall mass measured around 10 × 7 × 6 cm with a 2 × 1.5 cm stalk. Histopathology revealed encapsulated high-grade epithelioid GIST tumor with negative margins (pT3). The mitotic rate of 6/50 HPF and immunohistochemical stains were positive for DOG1 and CD34 but negative for CD117 (c-Kit) ().\nThe final diagnosis was synchronous early-stage GEJ adenocarcinoma and a high-grade gastric GIST. Therefore, the patient was started on adjuvant imatinib treatment, along with endoscopic surveillance every six months and proton pump inhibitors.
This patient was a generally healthy 62-year-old male with a left lobe complex nodule within a nontoxic multinodular goiter that had been enlarging for approximately 3 years. In 2015, the patient had a FNAB reported as benign, BC II. Because of continued growth, he had a second FNA biopsy approximately six months later reported as a Hürthle cell neoplasm or suspicious for a Hürthle cell neoplasm, BC IV with Oncocytic / Hürthle cells dispersed mostly singly and in small fragments in a background of lysed blood. CKAE1/AE3, TTF-1, and thyroglobulin immunostains were positive (). Molecular testing with ThyroSeq® v2 revealed an absence of gene mutations or fusions but overexpression of the MET gene with an uncertain increased risk of malignancy. After repeat ultrasound imaging, the nodule had grown from 4.9 to 6.0 cm over the course of 1 year. He was euthyroid with negative anti-thyroid antibodies. There was no family history of thyroid cancer or known radiation exposures in his youth. He had no obstructive symptoms despite the size of the mass and denied shortness of breath, dysphagia, neck pain, neck pressure, or recent voice changes. His weight had been stable and appetite good. His past medical history was significant for a retinal detachment, hypertension, and inguinal hernia with a surgical history limited to eye surgery and hernia repair. He denied tobacco or alcohol use. On exam, the patient had an enlarged, firm thyroid gland with the left thyroid lobe causing significant tracheal deviation to the right. A neck CT scan demonstrated a markedly enlarged left thyroid lobe (7.2 cm in sagittal height) causing significant rightward tracheal deviation, minimal tracheal compression, and slight early substernal extension (). He had multiple opinions from both endocrinologists and surgeons with various recommendations from left thyroid lobectomy to total thyroidectomy. The patient had initially contemplated a hemithyroidectomy due to concerns for voice impairment that could impact his occupation as an attorney.\nAfter a second surgical consultation, he elected to have another, more advanced molecular test performed on the same FNAB specimen. The ThyroSeq® v3 test has been designed to improve the performance of its previous version, ThyroSeq v2, specifically with respect to Hürthle cell tumors. This has been achieved by expanding the number of gene markers analyzed for mutations and gene fusions and particularly by incorporating the analysis of copy number alterations (CNAs), which are common in Hürthle cell cancers. ThyroSeq® v3 test results in this case showed CNAs involving multiple chromosomes with the pattern of genome haploidization which predicted a much greater probability that the left lobe nodule represented a Hürthle cell malignancy rather than Hürthle cell metaplasia or an adenoma. Based on the additional information provided by ThyroSeq® v3, in July, 2017, the patient elected a total thyroidectomy. At surgery, the overlying strap muscles were superficially adherent to the thyroid capsule on the left with a suspicion of minimal extrathyroidal extension of the tumor and a layer of muscle was left attached to the specimen. There were no paratracheal lymph nodes. He did require single gland parathyroid autotransplantation. Postoperatively, his parathyroid hormone and calcium levels were within normal limits. On final surgical pathology, an encapsulated 7 cm Hürthle cell carcinoma with 5 foci of angioinvasion was found along with foci of capsular invasion, without extrathyroidal extension (). A second opinion was sought and the reviewing pathologist reported 4 foci of capsular invasion and 3 foci of vascular invasion. The number of foci of vascular invasion was prognostically important and prompted more aggressive treatment and follow-up.\nOne month postoperatively, thyroglobulin was 308 ng/mL. A small thyroid remnant with 2.4% uptake in the surgical bed was found on I-131 whole body scan. An FDG-PET scan was negative for any activity in the thyroidectomy bed or for distant metastatic disease; therefore he was given 30 mCi of radioactive iodine to ablate the remnant. At this time, his thyroglobulin had decreased from 308 to 8.71 ng/mL. His postablation, I-131 whole body scan showed ablation of the thyroid remnant and no evidence of metastatic disease. By 10/27/2017, the thyroglobulin had decreased further to 0.2 ng/mL with no detectable thyroglobulin antibodies and a TSH of 0.09 uIU/ml indicating a favorable early response to initial treatment.
The patient is a 15-day-old dizygotic twin girl born via uncomplicated vaginal delivery. She was referred to our institution as a result of findings of ventriculomegaly noted on prenatal screening ultrasonography. The cause of the hydrocephalus was unknown at that time. On examination, the patient had a soft but full anterior fontanelle, along with dilated scalp veins. The head circumference was greater than the 97th percentile for gestational age. No focal neurologic deficits were appreciated on examination. Postnatal cranial ultrasonography revealed progressive hydrocephalus as well as a midline echogenic mass in the posterior fossa with mass effect on the cerebellum. Magnetic resonance imaging (MRI) was obtained, which revealed a very large dural-based extraaxial mass along the dorsal aspect of the posterior fossa []. The mass was well-circumscribed and heterogeneous, but mostly T1 isointense and T2 hypointense with flow voids and evidence of previous hemorrhage within it. Avid contrast enhancement was seen. There was marked mass effect on the cerebellum, fourth ventricle, and brainstem with resultant obstructive hydrocephalus and evidence of transependymal flow. The differential diagnoses of an intracranial vascular lesion in this 15-day-old infant included hemangioma, hemangioblastoma, vascular malformation, and other neonatal tumor types, such as soft-tissue sarcoma.[] In addition, meningioma could not initially be definitively excluded because of the dural attachment.\nOwing to the compressive nature of the lesion and the progressive hydrocephalus, the infant was taken to the operating room for resection of the posterior fossa lesion. Prior to the resection, an external ventricular drain (EVD) was placed in the occipital horn of the right lateral ventricle with care to avoid the egress of cerebral spinal fluid until the tumor was resected. A suboccipital craniectomy and C1 laminectomy were performed. The lesion appeared extremely vascular and clearly emanated from the dura without intraaxial involvement. Because of the patient's size and the low circulating blood volume, minimizing blood loss was imperative. Blood products were on standby. Care was taken not to breach the venous system as the mass was circumferentially dissected away from the surrounding tentorium and brain parenchyma. Cavitron ultrasonic aspiration and bipolar cautery were used to reduce the blood supply to the tumor externally while it was debulked internally. Following resection of the lesion, a large dural defect remained. A dural graft was used to close the defect with the additional support of a large piece of non-suturable DuraGen (Integra Life Sciences, Plainsboro, New Jersey) and Tisseel (Baxter Healthcare, Deerfield, Illinois) because the paper thin nature of the patient's dura made watertight closure challenging.\nBecause of our patient's small body habitus (2.7 kg), minimizing hemorrhage and maintaining intravascular volume were of utmost importance. In sum, throughout the duration of the case, our patient received 160 ml of lactated Ringer's solution, 90 ml of packed red blood cells, 50 cc of fresh frozen plasma, 40 ml of platelets, and 10 ml of cryoprecipitate. Despite efforts taken to reduce volume loss, the estimated blood loss was 150 ml, whereas the patient's estimated total circulating blood volume was only 230 ml and urine output was 50 ml.\nPostoperative imaging revealed gross total resection of the mass and significant decompression of the brainstem and cerebellum []. The immediate postoperative course was complicated by seizures and thrombosis of the right transverse sinus, for which therapy with levetiracetam and Lovenox (Sanofi-Aventis, Bridgewater, New Jersey) was started. Initially, intracranial pressures were normal and a several-day trial of EVD clamping was successful, allowing the removal of the EVD. Unfortunately, during the follow-up period, the patient developed a persistent cerebrospinal fluid (CSF) leak, enlarging head circumference, and enlarging ventricular size. Infection was excluded by CSF sampling. Ultimately, spinal fluid diversion with ventriculoperitoneal shunt placement was required.\nThe pathology report of the lesion showed positive staining of 20% for MIB-1, a marker for actively proliferating cells. Stains for glucose transporter 1 (GLUT1) and CD31 were also positive, indicating that the lesion was an infantile hemangioma.[]\nAt the time of the most recent office evaluation 4 months since her operation and 6 weeks from shunt placement, the patient had completed her course of anticoagulation therapy with follow-up imaging demonstrating patency of all venous sinuses. There has been no recurrence of the mass. She remains on antiepileptic medications for seizure prophylaxis but has not had seizure activity. The patient continues to meet her developmental milestones in subsequent outpatient follow up visits.
A 26 year old Kenyan male presented with a 1-month history of fever. The fever was intermittent, often at night ranging from 38.3 to 40.2 °C, with accompanying prodromal chills and sweats. There was reported unintentional weight loss of 3 kg over a 3 month period. He reported a transient productive cough at the beginning of his illness that subsequently resolved. His medical history did not reveal any allergies, occupational exposure to airway irritants, and did not include asthma, TB or human immunodeficiency virus (HIV) infection. He denied any history of recent significant travel to areas of endemic malaria or arboviral infections. He did not report any bites or stings, had no history of rash and had no pets. He had no sick contacts nor had he handled any animal remains or waste. He had no musculoskeletal complaints, urinary or gastrointestinal symptoms.\nA month prior to his presentation at our tertiary referral hospital, he had been admitted to a smaller outside facility with the same symptoms. Investigations done in that facility included a chest radiograph that was normal, sputum smear that was negative for acid-fast-bacilli (AFB) and a negative HIV 4th generation enzyme linked immunosorbent assay (ELISA). He presented to our facility due to worsening of his condition, with increasing frequency of his febrile episodes.\nOn admission, his physical examination revealed a young man in fair general condition, and of good nutritional status. He was febrile at 40 °C, had tachycardia and normal blood pressure. He had no pallor, icterus, lymph node enlargement or rash. There was no tenderness over his sinuses, and the rest of his head, ear, eye, nose and throat exam was normal. He was not in respiratory distress, his chest was found to be symmetric with normal vesicular breath sounds. Cardiovascular examination did not reveal any murmurs and he had no tenderness nor organomegaly on abdominal examination. His neck was supple and he had no focal neurologic signs. There were no tender or swollen joints.\nThe complete blood count (CBC), showed leukopenia of 2.53 × 109 cells/L (neutrophils 1.87 × 109 cells/L, lymphocytes 0.536 × 109 cells/L) with a microcytic hypochromic anaemia of 9.43 g/dL (Mean Corpuscular Volume 74.7 fL) and a thrombocytosis of 717 × 109 platelets/L. The C-reactive protein was elevated at 137.7 mg/L (reference <5.0), erythrocyte sedimentation rate 52 mm/h (reference 1–15) and serum ferritin 911.6 ng/mL (reference 34–310). Renal and liver function tests were normal. Successive blood, urine and stool cultures yielded no bacterial growth. MTB was not detected in sputum Ziehl–Neelsen (ZN) smears and GeneXpert MTB/RIF tests performed in our facility. A repeat chest radiograph was normal. At this point, the patient was put on 1 g Paracetamol thrice daily for its antipyretic effect, as further tests investigating possible foci of infection were underway. However, the fevers continued to persist.\nSerological tests for HIV, hepatitis B and C, Salmonella, Brucella, Malaria blood smears and antigen tests were all negative. Fungal blood cultures were negative. He had a normal transthoracic echocardiogram. Connective tissue screening including antinuclear antibodies, rheumatoid factor, extractable nuclear antigens (dsDNA, Sm, Rib-P, U1RNP, Ro, La, CENP, Scl-70, PM-Scl, Fibrillarin, RNA Pol III, Jo-1, Mi-2, PCNA) were all negative. Bone marrow aspirate and trephine biopsy revealed low normocellular marrow with trilineage dysplasia and megakaryocytic hyperplasia. There were no organisms, tumour cells or granulomata demonstrated in the aspirate. Apart from the persistent fevers, the patient while in the ward developed abdominal pain of gradual onset, localised to left upper quadrant. Abdominal ultrasound of the patient revealed an enlarged liver with normal texture. The biliary and hepatic radicles were normal. Notably, the spleen was enlarged (15.66 cm) with a 2.04 × 1.99 cm hypoechoic mass. Computed tomography (CT) scan of the abdomen confirmed a moderately enlarged liver with homogenous echopattern, an enlarged spleen with multiple hypodense non-enhancing nodules, the largest being 2.4 cm in diameter (Fig. ). A tentative diagnosis of multiple splenic microabscesses was made. Ultrasound-guided fine needle aspiration cytology (FNAC) of one of the splenic lesions was bloody in appearance, revealing scanty leucocytes, some erythrocytes and did not demonstrate any AFB or fungal elements. No bacterial or fungal growths were cultured from the aspirate.\nDuring the second month of admission, the patient’s fevers became more frequent, and he experienced gradual increase in abdominal pain. There was marked tenderness in the left upper quadrant with a palpable spleen. In view of worsening neutropenia with increasing abdominal pain and fevers in the background of the abdominal CT scan report citing possible microabscesses, a clinical decision by the Infectious Disease specialists was made to empirically cover for bacterial, fungal and MTB infection as a conclusive diagnosis was yet to be clinched. A broad-spectrum antibiotic cover of intravenous vancomycin 1 g 8 h, ceftazidime 1 g 8 h and metronidazole 500 mg 8 h was prescribed. This was done to provide adequate bacterial gram positive and negative cover as well as to cater for possible anaerobes respectively, as informed by the Clinical Practice Guidelines for Febrile Neutropaenia [, ]. Empiric antifungal of choice was amphotericin-B and the patient was initiated on anti-TB therapy with rifampin, isoniazid, ethambutol and pyrazinamide. About a week after initiation of the antimicrobial therapy, the patient deteriorated further with a worsening leukopenia of 1.06 × 109 cells/L with a neutrophil count of 0.004 × 109 cells/L, lymphocyte count of 0.505 × 109 cells/L, monocyte count of 0.511 × 109 cells/L, erythrocyte count of 3.79 × 1012 cells/L and platelet count of 443 × 109/L. He had worsening of fevers, cough of new onset, difficulty in breathing, chest and abdominal pain. Examination revealed a right pleural effusion which was confirmed on chest radiograph. Chest CT revealed massive right pleural effusion, right mid and lower zone consolidation and multiple paratracheal and mediastinal lymph nodes (Fig. ). He had drainage of the effusion with a sample taken for analysis. Results showed an exudate demonstrating a heterogeneous population of mature and immature lymphocytes within a proteinaceous haemorrhagic background, as well as normal adenine deaminase levels. Gram stain for bacteria and ZN stain for AFB were both negative. The pleural fluid had no malignant cells.\nA percutaneous image-guided core needle biopsy (CNB) of his spleen was performed. This involved splenic sampling using a cutting needle under guidance of ultrasound. Histopathological examination of the biopsy specimen revealed effaced splenic architecture with extensive multiple granulomas—mainly necrotising with multinucleate histiocytes, eosinophils and areas of fibrosis. There was no evidence of a malignant lymphocytic or foreign cell infiltrate. ZN stain of the biopsy processed specimen revealed acid-fast bacilli (Figs. , , ), confirmed by GeneXpert MTB/RIF which yielded MTB sensitive to rifampicin. With this tissue diagnosis confirmed, all the empiric antibiotics (vancomycin, ceftazidime, metronidazole) and antifungals (amphotericin-B) were discontinued and the anti-TB treatment maintained with supportive management comprising analgesics, fluids and nutritional support. In view of the patient’s febrile neutropaenia, the clinicians instituted strict infection control measures such as barrier nursing, hand washing and avoiding raw uncooked foods. These measures were taken in order to protect the patient from acquiring opportunistic infections from his environment, as he was severely neutropaenic thus immunologically vulnerable. The patient continued to deteriorate with persistent neutropaenia and fever for about 2 weeks before he registered progressive improvement and was discharged 30 days after initiation of anti-TB medication. His hospital stay lasted a total of 78 days. It was noted during the patient’s regular follow-up sessions as an outpatient that he remained neutropaenic for about a month’s duration after discharge from the hospital. This neutropaenia resolved about 2 months into the TB treatment with a normal CBC. No adverse events were reported. He subsequently did well and is back to work, having completed a full 6-month course of anti-TB medication.
We report a 7 year old boy who was referred to the Cardiac Center in Addis Ababa with dyspnea on moderate exertion and palpitations of about 2 years duration. The child was found to have a cardiac murmur at the age of about 2 years but was not subjected to echocardiography due to lack of skill and equipment in his locality. He was not on any medication at the time of presentation.\nOn physical examination, he appeared to be well-grown and healthy-appearing boy with a weight of 39 kg, height of 132 cm and body mass index of 22.4. His blood pressure was 127/55 mmHg and his pulse rate was 84 bpm. His oxygen saturation was 88% on room air. There was no remarkable cyanosis or clubbing of the fingers. Peripheral pulses were palpable. He had a parasternal lift, systolic thrill and a 4/6 ejection systolic murmur, best heard over the left 2nd intercostal space and a pansystolic murmur of grade 3/6 intensity, best heard over the left lower sternal border. There was no hepatomegaly or peripheral edema.\nHis chest X – ray showed marked cardiac enlargement with clearly decreased pulmonary vascular markings. The electrocardiogram showed sinus rhythm with a rate of 88 beats per minute, incomplete right bundle branch block, right ventricular hypertrophy, right atrial enlargement and right axis deviation. Echocardiographic examination showed normal abdominal and atrial situs, with normal position of the heart in the left chest and normal venoatrial, atrioventricular and ventriculoarterial relationships. The right ventricle looked markedly dilated and hypertrophied. The right atrium looked dilated. Right ventricular systolic function appeared grossly reduced on visual inspection and Tricuspid Annular Plane Systolic Excursion (TAPSE). There was a patent foramen ovale with right to left flow by color Doppler. The interventricular septum appeared intact. The mitral and aortic valves were structurally normal. The tricuspid valve looked thickened. The pulmonary valve was thickened with fused leaflets. No calcification was seen. There was a trickle of flow seen across the valve. There was a discrete circumferential membrane about 1.3 cm below the pulmonic valve (Figure \n). Continuous wave Doppler across the pulmonic valve showed a peak systolic pressure gradient of 185 mmHg. However, pulsed wave Doppler just distal to the membrane did not show significant turbulence or pressure gradient before dilation of the valve. He had also moderate tricuspid regurgitation with pressure gradient of 185 mmHg. No pericardial effusion was seen.\nThe boy was scheduled for percutaneous balloon dilation of the valve under general anesthesia and was taken to the catheterization laboratory. Right ventriculography in the frontal projection showed a discrete membranous obstruction about 1.3 cm below the pulmonic valve (Figure\n). Right ventricular systolic pressure was 160 mmHg and the pulmonary arterial systolic pressure was 15 mmHg. With a 17 mm × 30 mm Osypka balloon, dilation of the valve was performed (Figure \n). Post-dilation right ventricular pressure was 72 mmHg and that of the pulmonary artery was 22 mmHg. There was mild post-dilation pulmonary regurgitation. After dilation of the valve, both catheter measurement and echocardiography showed significant subvalvar pressure gradient. The patient tolerated the procedure and there was no complication. He was extubated in the catheterization laboratory. He was discharged after one day in hospital. He was given propranolol 10 mg orally 3 times a day for 3 months. His discharge echo showed reduction in the degree of tricuspid regurgitation, mild pulmonic regurgitation and a subvalvar right ventricular outflow tract gradient of 45-50 mmHg. On a 1-month follow up visit, he reported significant improvement in his clinical symptoms and improved exercise capacity. His oxygen saturation on this visit was 95% at room air. His right ventricular outflow gradient on this visit was approximately 60 mmHg and his tricuspid regurgitation has decreased in severity. His right ventricular function has improved.
The patient was a 2-year-old boy from Russian republic of Ingushetia. Both parents and younger sibling (female) were asymptomatic. Family history is not burdened. Parents may be related, as the mother of the child and the grandmother (father's line) are from neighboring villages of Malgobek region of Ingushetia.\nThe patient is the first child of healthy parents. Pregnancy proceeded against the background of gestosis in the first and second trimester, threats of interruption for a period of 12 weeks, anemia, and lack of hydration. The child was born as a result of fast unassisted childbirth. His birth weight was 3570 g and height was 55 cm. Apgar scores were 6/7. Early motor development slightly delays: He attained head holding at 3 months, sitting without support at 6 months, by the year the boy got up and walked with support. From the age of 8 months, the baby had a weight loss of 2 kg for 2 months with episodes of repeated vomiting. At the age of 1 year 2 months against a background of acute respiratory viral infection, there was a regress in development—the boy stopped walking. Subsequently, rachitic skeletal changes, an increase in the volume of the abdomen appeared, and a loss of motor skills progressed. Magnetic resonance imaging (MRI) of brain revealed a mildly expressed leukopathy in white matter of parietal lobes. Proteinuria and glucosuria appeared at the age of 1 year 8 months.\nAt the age of 2 years 2 months, he was admitted to Russian children's clinical hospital with psychomotor retardation and treatment resistance. On physical examination, he was observed to have a pronounced delay in psychomotor development (he did not get up, walk, crawl; he could only keep his head and turn over). Neurological examination revealed muscular hypotrophy, tendency to hypotension in axial musculature, and uniform decrease in tendon reflexes from hands and feet. MRI of brain revealed subatrophic changes, moderate expansion of the lateral ventricles within the subatrophy with compensated liquorodynamics, and the presence of hypomyelinization zones in the periventricular white matter of the posterolateral regions.\nClinical exome sequencing was carried out by Genotek Ltd. Genomic DNA from peripheral blood sample was extracted using QIAamp DNA Mini Kit (Qiagen, Hilden, Germany). DNA libraries were prepared using NEBNext Ultra DNA Library Prep Kit for Illumina (New England Biolabs, Ipswich, Massachusetts, USA) with adapters for sequencing on Illumina platform. Double barcoding was performed by PCR with NEBNext Multiplex Oligos for Illumina kit. Quality control of DNA libraries was carried out using Bioanalyzer 2100 (Agilent Technologies, Santa Clara, California, USA). We used SureSelect XT2 (Agilent Technologies, Santa Clara, California, USA) for target enrichment. Enriched samples were sequenced on Illumina HiSeq 2500 using pair-end 100 base pairs reads. After sequencing, we trimmed 3′-nucleotides with read quality below 10 using Cutadapt. Raw reads were aligned to reference genome hg19 (GRCh37.p13) using BWA MEM. Deduplication of reads was carried out using SAMtools rmdup. FastQC was used for data quality control. We called short variants using GATK HaplotypeCaller according to GATK Best Practices DNA-seq. The effect of each mutation was assessed using snpEff. To assess pathogenicity and conservatism, the data were extracted from the dbNSFP, ClinVar, OMIM database, and HGMD, as well as using the SIFT and PolyPhen-2 utilities to predict pathogenicity of the mutation. Information on the frequency of mutations was taken from 1000 Genomes project, ExAC, and Genotek frequency data. Description of mutations and their pathogenicity was predicted according to the Standards and Guidelines developed by ACMG (American College of Medical Genetics and Genomics), AMP (Association for Molecular Pathology), and CAP (College of American Pathologists). Copy number alterations were determined using CNVkit. CTNS variant identified by exome sequencing was confirmed by Sanger sequencing of patient, parental, and sibling DNA samples.\nAfter exome sequencing, on admission in Veltischchev Research and Clinical Institute for Pediatrics, patient was 9 kg in weight and 80 cm in height, with low weight-for-height proportion and disharmonious physical development. Deficiency of subcutaneous fat was noted. Attention was paid to rachitic changes in skeleton: expansion of metaphyses, keel-like deformation of thorax, rachitic “rosary,” varus deformity of lower limbs. Hepatosplenomegaly was noted: liver and spleen protruded from under edge of the costal arch by 2.5 cm. Clinical signs include polyuria and polydipsia (consumed liquid per day 1300 mL, daily diuresis—1300 mL). Blood tests showed mild anemia, hypokalemia, decrease in uric acid, increase in alkaline phosphatase activity, hypophosphatemia, increase in triglycerides, and creatinine level at the lower limit of the norm. The study of equilibrium of acids and bases of blood revealed metabolic acidosis. Test of thyroid gland hormonal profile showed subclinical hypothyroidism. Level of cystine in leukocytes was normal. Glomerular filtration rate (GFR) (97 mL/min) was within the normal range (80-120 mL/min). Urine test showed phosphaturia, glucosuria, and low molecular weight proteinuria. Cystine was detected in urine test. Ultrasound examination showed hepatosplenomegaly, multiple foci of increased echogenicity in liver, nephromegaly with thickening, and diffuse changes in renal parenchyma. Radiologic examination revealed pronounced osteoporosis, lagging behind bone age. Ophthalmoscopy revealed cystine crystals in the cornea. Thus, the child has signs of infantile form of nephrotic cystinosis with preserved kidney function.\nThe patient was commenced on cysteamine (Cystagon), initially 50 mg orally four times daily, to increase gradually to 100 mg four times daily (0.8 g/m2/d). Also he was commenced on ophthalmic solution Cystadrops (one drop six times daily) and potassium, phosphorus, vitamin D, energotropic agents. After 6-month therapy, the patient's condition remains stable and serious with slight positive dynamics. The child gained 1 kg in weight and grew by 0.5 cm. Polydipsia/polyuria decreased to 1000-1200 mL. Hemoglobin and red blood cell levels, and thyroid-stimulating hormone and T4 levels were normalized. Minimal phenomena of metabolic acidosis persist. Also, filtration function of the kidneys was preserved, and no signs of nephrocalcinosis were detected.\nAt the last examination, patient had elevated cystine level in the granulocytes (2.32 nmol) and nephrocalcinosis of both kidneys. Cysteamine dose was increased to 1.25 g/m2/d.
We present a 57 year old gentleman with CKD 5 who had an autogenous brachiocephalic fistula 4 months prior to presentation to us. During their last surgical clinical visit, the fistula was noted to be poorly maturing and then referred to interventional radiology for fistulogram and possible endovascular intervention to assist with fistula maturation.\nThe patient had a fistulogram which demonstrated a high grade juxta-anastomotic stenosis which was successfully balloon dilated. After a 6 week follow up clinic visit the fistula was still immature and a duplex scan, a second fistulogram with possible intervention were requested.\nFistulogram was performed via an antegrade approach from an access just proximal to the swing point. There was an “apparent” stenosis (Fig. ) which was angioplastied then followed by severe spasm (Fig. ). which was perceived by the operator to be recalcitrant stenosis. In the light of this perceived recalcitrant stenosis, a decision to stent the area was taken. After measuring the vessel diameter based on the immediate post-plasty images a 6 mm diameter × 5 cm length Viabahn stent (Gore & Associates, Flagstaff, AZ) was selected and deployed in the standard fashion.\nFollowing stent deployment, the stent migrated and stopped at the confluence of the cephalic vein and the subclavian vein (Fig. ). At the time the operator thought the stent was stable and unlikely to cause harm to the patient in this position. However, after reviewing the images with colleagues including vascular surgeons a decision was made to attempt to retract the stent into the arm which would be easier for the surgeon to retrieve the stent surgically, if required. The patient was subsequently brought back 24 h later to the interventional radiology suite.\nInitial fluoroscopic image of the left shoulder region demonstrated the stent was absent from the final position documented the previous day indicating the stent had migrated further (Fig. ). Fluoroscopic scanning of the chest identified the stent to overlie the left lower lobe (Fig. ).\nSubsequent Pulmonary angiogram confirmed the stent to lie within a segmental pulmonary artery of the left lower lobe (Fig. ).\nAfter discussion of the options, risks and benefits with the patient and a multidisciplinary team, a decision to attempt stent retrieval was made versus leaving the stent in situ.\nAfter appropriate informed written consent, the right groin was prepped and in the standard fashion. Right common femoral vein access was then upsized to accept a 16 F sheath (Cook, Bloomington. IN USA). Main pulmonary access was then performed with an APC pulmonary catheter (Cook, Bloomington. IN USA). The APC catheter was then removed over a Storq wire (Cook, Bloomington. IN USA) wire and subsequently a 12 F 70 cm braided sheath was advanced into the main pulmonary artery and then left lower lobe pulmonary artery. Pulmonary angiograms performed identified the optimal projection to identify the vessel to access. After accessing the appropriate vessel the 12F sheath was advanced just to the origin of the branch above the stent. Subsequently a 15 mm Amplatz Gooseneck snare (ev3, Plymouth MN, USA) was manipulated until the stent was lassoed at about half way along the stent. Given the flexibility and potential collapsibility of the Viabahn stent it was over-sheathed carefully collapsing and gently retracting the captured stent to minimize potential vessel injury (Fig. , Additional file ). Once the stent had been totally ensheathed, the 12F sheath was retracted through the outer 16F sheath coaxially. The stent was retrieved intact (Fig. ).\nThe procedure was performed under moderate sedation using Fentanyl and midazolam with continuous monitoring of the patient’s vitals by a dedicated nurse. Throughout the procedure the patient remained hemodynamically stable with normal respiratory function. Post procedure the patient was observed for 6 h post procedure before being discharged home in a stable condition.\nThe patient has so far been followed up for 3.5 years and has not developed any adverse pulmonary or cardiac condition. Interval CTPA done at an outside facility showed normal pulmonary vasculature with no evidence of pulmonary vessel injury.
A 37 years-old unmarried premenopausal female presented in the emergency of our hospital with complaints of bleeding from ulcerative lesion in the left breast for a couple of hours. The patient had history of ulcer in the left breast for past 2–3 weeks which developed over the underlying huge breast lump. The lump was present for past 5 months but rapidly grew over the last 3 months to current size. There was no history of coagulopathy, trauma, chronic liver disease or history of similar illness in first degree relatives. The patient attained menarche at the age of 15 years. She is a non-smoker and denies history of contraceptive use or alcohol intake.\nOn examination in our emergency there was severe pallor with tachycardia. However the blood pressure was maintained. There was an oozing ulceration in upper outer quadrant of the left breast with underlying huge lump measuring 15 × 15 cm occupying the upper outer, lower outer and upper inner quadrants with deformed shape of the breast (a). The skin surrounding the ulcer was erythematous and edematous. Axilla did not show lymphadenopathy.\nBefore the development of breast lump, the patient had itchy lesion at the same site. The patient unfortunately attributed all these events to that itchy lesion and sought help late. There was no history of headache, shortness of breath, abdominal distension or bone pain.\nOn investigating the patient, she was severely anemic with hemoglobin of 5 gm% with normal total and differential counts. Coagulation parameters and liver function tests were normal. Chest X-ray showed no evidence of metastasis other than dense breast shadow on left side due to huge breast lump(a).\nMammogram revealed homogeneous radiodense lobulated mass occupying whole of left breast with subcutaneous thickening on the background of dense breast (b). Ultrasound (USG) of abdomen and pelvis did not reveal any abnormal findings. Trucut biopsy from the breast mass showed necrotic areas with fibrocollagenous tissue with proliferation of oval to elongated spindle cells showing mild degree of atypia.\nAfter discussion about the possibility of metaplastic versus malignant phyllodes tumor, the patient underwent modified radical mastectomy (MRM). Histopathological examination showed maximum tumor size of 14 cm with increased stromal cellularity, loss of stromal-epithelial balance and frequent mitoses more than 45 per 10 high power fields () typical of malignant phyllodes. All the resected margins, nipple and areola were free of tumor. Lymphovascular and perineural invasions were not identified. Seventeen axillary nodes retrieved were free of tumor.\nPostoperatively patient gained weight and was doing well. Three months after surgery, the patient started developing progressively increasing headache, nausea and vomiting for which she got admitted in our center. There was no local recurrence. However on further investigations, she had a huge cystic lesion with mural nodule in her brain (b,c,d). Contrast enhanced computed tomography (CECT) of chest, abdomen and pelvis showed lesions in lower lobe of left lung (a) of size 3.9 × 3.6 cm of +40 Hounsfield unit (HU) in posterobasal segment and right adrenal gland () of 5.8 × 5.1 cm of +30HU with significant enhancement in post-contrast images. Functional evaluation for the adrenal mass with urinary metanephrines and serum cortisol was negative. Patient refused biopsy from right adrenal gland and lung, but while preparing for burrhole biopsy from brain, patient succumbed to the disease. The patient underwent serial ultrasound of abdomen and pelvis during hospital stay which showed increase in size of 4 cm of adrenal mass in 15 days (tumor velocity).
A 2-month-old boy who previously underwent surgical correction for intraventricular defect started to present frequent episodes of inconsolable crying, associated with neck extension, stiffening of the arms and trunk, sometimes followed by swallowing and vomiting.\nSymptoms were attributed to GERD, and therapy with PPI started. However, no improvement was noticed. In the following weeks, episodes became even more frequents with exacerbation of symptoms. His mother video recorded an attack (), which showed the presence of flexion spasms, presence of intractable GERD was suggested and the child eventually underwent fundoplicatio.\nNo improvement was noticed: Persistence of symptoms and occurrence of spasms of the arms during acute episodes finally suggested diagnosis of West syndrome. IS was then confirmed by EEG while MRI was negative. Despite starting of appropriate therapy at 8 month of age, clinical signs of mental retardation were present.\nAlthough IS is a rare disorder, diagnosis is usually not hard: The age of patients is peculiar and a careful patient history with a complete neurological evaluation are usually sufficient conditions to suspect the disease. Traditionally, differential diagnosis of IS does not contemplate GERD ().\nWe have described the cases of three infants presenting with classical clinical findings attributable to IS who were initially diagnosed, and consequently treated, as having GERD. In all patients, irritability, spasms and crying were considered signs of gastrointestinal complaints rather than to psychomotor development regression.\nTo our knowledge, this is the first report of IS misdiagnosed as GERD.\nWe would like to underline that our patients presented classical signs of IS, and a more precise physical examination would have also revealed a psychomotor development regression. These findings were very consistent with IS that usually begins between age of 4 and 8 months and are characterized by brief symmetric contractions of neck, trunk and extremities. Spasms occur during sleep or arousal and have tendency to develop while patients are drowsy or immediately on awakening. These findings should always drive paediatricians to request for EEG, in which pattern most commonly associated with IS is hypsarrythmic.\nWe have tried to examine the reasons underlying such an exceptional misinterpretation.\nConsidering that both IS and GERD have not been changed their clinical presentation among past years, we believe that our report could be consider as the consequence of an extraordinary attention around GERD in the last decade.\nIn confirmation of this statement, Barron et al. have recently demonstrated that PPI use in paediatric population increased steadily from 1999 to 2004 in the United States ().\nWe could speculate that a possible danger of such an attention towards GERD in children could be the erroneous attribution to GERD of symptoms clearly associated with other conditions like in patients we have described. Interestingly, it has already been shown that most of the symptoms classically related to GERD have revealed to be inconsistent with the clinical suspicion. In fact, only less of 10% of the symptoms conventionally associated with GER episodes (crying, regurgitation, feeding refusal, back arching, wheezing, coughing and hoarseness) are truly related to episodes of gastroesophageal reflux (GER) when detected with combined pH monitoring and impedance measurement (). Similarly, Orenstein et al. () did not find any difference in efficacy between lansoprazole and placebo for symptoms attributed to GERD in infants.\nWe have already suggested that these symptoms, if not associated with other major complaint as growth failure or psychomotor development regression, should be simply considered part of the physiological behaviours of infants, rather than pathological events (). Unfortunately, most paediatricians dealing with irritable infants still seem to be more prone to start with anti-reflux therapy rather than to educate parents on how to cope with infant crying as a part of anticipatory guidance. In our experience, this unjustified and ineffective approach may confuse the family, leading at the end to food refusal in the baby, with an impact on growth ().\nOn the other hand, this particular attention to GERD in children may reduce attention towards other peculiar clinical conditions, like in cases we presented. We would like to underline that IS should be always considered in every infant presenting with symmetric spasms and psychomotor development regression.\nIn conclusion, we have described for the first time three cases of children affected by IS initially misdiagnosed with GERD. We believe that it could be the result of a peculiar overestimation of clinical signs attributable to GERD, beard from a flourishing specific literature in the past years, leading to overdiagnosis of GERD in healthy infants and to lack diagnosis of other specific clinical conditions like in cases we have presented.\nIn particular, IS long-term overall prognosis is poor, and mainly among those patients with long time from onset to treatment, cyptogenetic IS and age of onset <4 months, thereby prompt diagnosis is mandatory to start proper therapy.\nWe would suggest to consider GERD only in those patients with high risk rate for developing GERD like children with cerebral palsy, in those with surgery complications after oesophageal atresia and/or in any child with very evocative GERD symptoms, such as hematemesis and or chronic vomiting with growth failure.
In May 2016, a 67-year-old woman came primarily to our hospital for a consultation about painless mass of the left lower gingiva. Intra-oral examination showed a 46 × 25-mm tumor with induration on the left lower gingiva (Fig. ). A submucosal mass, independent of the gingival tumor, was palpable in the left buccal region. Several cervical lymph nodes on the left side were also palpable. Pathological examination of a biopsy sample taken from the gingival tumor revealed a well-differentiated squamous cell carcinoma.\nA computed tomography (CT) scan with contrast showed a large gingival tumor, with destruction of the adjacent mandibular bone, and four metastatic left-cervical lymph nodes that were markedly enlarged, non-homogeneously enhanced, and partially necrotic. These lymph nodes included two left submandibular and two left upper jugular nodes. CT imaging showed no metastases to the lungs. Magnetic resonance imaging (MRI) showed a large primary tumor on the left side, with its epicenter located in the lower gingiva. The tumor appeared to extend into the sublingual space medially and into the buccinator muscle laterally. A non-homogeneously enhanced mass was identified in the buccinator space along the facial vessels, anterior to the anterior edge of the masseter muscle, and lateral to the buccinator muscle (Fig. ). This mass lay on the cranial side of the primary tumor. The mandibular ramus and pterygoid region that are on the cranial side of BN were not invaded by primary tumor (Fig. ). Moreover, T1-weighted MRI showed a thin layer with high signal, indicative of fatty tissue, between this mass and the primary tumor, indicating that the mass was independent of the primary tumor. Based on its anatomic location, the mass appeared to be metastatic disease to BN. Greyscale sonogram showed some metastatic cervical lymph nodes on the left, and metastatic BN. These cervical lymph nodes were markedly enlarged, round in shape, heterogenous hypoechoic, and without an echogenic hilus. Metastatic BN was round in shape, hypoechoic, with well-defined borders, and without an echogenic hilus.\nThe tumor was diagnosed as a cT4aN2bM0 squamous cell carcinoma of the lower gingiva. The patient received neoadjuvant chemotherapy, consisting of docetaxel 60–70 mg/m2 and cisplatin 70 mg/m2 on day 1, and 5-fluorouracil 700 mg/m2/day 96 h continuous infusion. Gross examination after two cycles of chemotherapy showed marked shrinkage of the primary tumor. A slight reduction in BN size was observed. According to the Response Evaluation Criteria in Solid Tumors (RECIST) guidelines, version 1.1 [], this patient showed a partial response to treatment.\nThree weeks after the end of neoadjuvant chemotherapy, the patient underwent surgery, consisting of suprahyoid neck dissection (levels I–II) on the right side, classical radical neck dissection (levels I–V) on the left side, segmental mandibulectomy, and oromandibular reconstruction with a scapular osteocutaneous flap. The primary tumor and buccinator space including BN were dissected in continuity with neck dissection. Histopathological examination of the segmental mandibulectomy specimens showed that the alveolar bone and part of the bone trabeculae of the mandible had been resorbed and replaced by fibrous connective tissue. This tissue contained a few nests of squamous cell carcinoma, composed mainly of necrotic tissue with a small number of viable cancer cells and remnants of keratin pearls. The surgical margins were free from tumor. Metastatic disease was detected in five cervical lymph nodes, including one left submandibular aggregated-node, three left upper jugular nodes, and one left middle jugular node. No metastatic nodes revealed extra-nodal extension. Metastasis to BN was also present (Fig. ). These metastatic regions contained few viable cancer cells and consisted primarily of necrotic tissue.\nFollowing surgery, the patient was treated with adjuvant radiotherapy (50 Gy/25 fractions) with concurrent oral chemotherapy (S-1, 100 mg/day for 5 days per week for 5 weeks) []. Two years later, there has been no evidence of tumor recurrence or metastasis.
A 50-year-old female presented with sudden abdominal pain. Abdominal computed tomography (CT) was performed and revealed a pancreatic cystic lesion. So, she was referred to our hospital for detail examination of pancreatic cystic lesion. On physical examination, there were tenderness and spontaneous pain on her entire abdomen. She had been treated for acute pancreatitis twice and didn't have any medical and family history. Blood examination showed increasing inflammatory response, WBC 10180/μl and CRP 23.6 mg/dl, and tumor markers, CEA, CA19-9 and CA125, were not elevated.\nThe contrast-enhanced CT revealed a unilocular cystic lesion in pancreatic tail sized in 80 mm which had partial thicken wall. There were disproportionate fat stranding around cystic lesion (), and ascites in the Douglas fossa. Based on the image findings, we suggested that she had diffuse peritonitis due to rupture of a pancreatic cyst with pancreatitis. We decided to treat pancreatitis and proceed with the detail examination of pancreatic cystic lesion because her symptoms were improving over time. MRI showed that the lesion was low to moderate intensity in T1-weighted image and high intensity in T2-weighted image. The lesion had a nodule-like low intensity area inside. The nodule enhanced in the early phase, and had high intensity area in diffusion-weighted images (). In MRCP, the communication to the main pancreatic duct was not revealed. EUS showed that the nodule was protruding into the lumen and nourished by the splenic artery (). One month after the first visit, the cystic lesion had gradually grown to 96 mm (). 30 days after the follow up CT, she presented with sudden abdominal pain and admitted to our hospital again. We diagnosed with re-rupture because of the shrinkage of the cystic lesion and presence of ascites around the lesion. Pseudopancreatic cyst was also considered because of the complication and past history of pancreatitis, but we could not deny neoplastic disease because MRI and EUS showed a solid component with blood flow in the cystic lesion. Since there was a history of rupture, it was unlikely that a tumor with a thick capsule like MCN would develop. We suspected SPN (Solid Pseudopapillary Neoplasm) first because of pancreatic tail development at a relatively young age, so we performed distal pancreatectomy.\nThe operation was performed by specialists of pancreatic resection who had been in practice for over 10 years. In operative findings, there were adhesions due to repeated ruptures around the cyst lesion. The cystic lesion surface was smooth, and cysts contained fluid. We punctured the intra-cystic fluid and collected a brownish fluid. The biochemical examination of the intracystic fluid was Amylase 27,000 U/l, carcinoembryonic antigen 280 ng/dl, and carbohydrate antigen 7900 U/ml by biochemical examination. The operation time was 4 h 19 min, and the blood loss was 1400 ml.\nThe pathological findings revealed that there were no nodules, and mucinous cells covered inside the cyst. Immunostaining was performed, but no ovarian type stroma characteristic of MCN was found. The cells were poorly atypical and no neoplastic growth was observed, and granulation tissue was growing in the stroma (). Finally, we diagnosed Simple Mucinous Cyst (SMC).\nThe course after the operation was uneventful. She discharged after 32 days after surgery. She had lived for a year after surgery without any evidence of metastasis and recurrence.
This is a report on a 32-year-old man with a history of two previous melanomas with concurrent plaque-type psoriasis. His history dates to June 2009, when he developed his first melanoma on the right occiput, Clark's level IV, tumor thickness 1.53 mm, nonulcerated, mitotic index 1/mm2. He was treated with wide local excision and sentinel lymph node biopsy in June 2009, the latter being negative for nodal metastasis. In November 2009 he presented with a 1-cm blue to black nodule on the right posterior neck, which on complete lymph node biopsy demonstrated nodal metastasis, prompting a complete lymph node dissection in December 2009, during which time 46 lymph nodes were removed, all of which were negative for any additional metastasis. He developed a second primary melanoma on the right upper chest in September 2012, Clark's level IV, tumor thickness 0.9 mm, nonulcerated, mitotic index 3/mm2 that was similarly treated with wide local excision and sentinel lymph node biopsy in November 2012; this too was negative for nodal metastasis.\nThe patient has a longstanding history of concurrent psoriasis since childhood. He has a strong family history of psoriasis in his sister, father, and maternal grandmother. Despite being of moderate severity, the psoriasis has been largely managed topically with various topical steroids and calcipotriol with betamethasone dipropionate. He had, at one point, a course of acitretin which was ineffective. He never received methotrexate, cyclosporine, or any of the biologics. After being disease-free from his melanoma for more than 3 years, the patient requested a more aggressive therapy for his psoriasis. The safest drug in the context of stable stage IIIB melanoma was thought to be apremilast which he started in August 2015 (30 mg twice a day after initial dose escalation as per drug protocol). At the time of initiation of therapy, he had numerous 2–5-cm plaques on the elbows, knees, thighs, and trunk (PASI 13.1). The patient had a dramatic response to his treatment, and by November 2015 he had just a few scaly pink papules <1 cm on the arms, lower limbs, and torso. Within 4 months of starting therapy, the patient had noted a “new” blue 5-mm papule on the left shoulder, which clinically and on dermoscopy was thought to represent a blue nevus. He returned for follow-up in March 2016 with two new 1–2-mm blue-black papules near the site of his first melanoma on the scalp. Subsequent biopsy confirmed recurrence of his melanoma in the form of satellitosis; molecular testing on this specimen detected the BRAF V600E mutation. He went on to develop multiple additional papules, primarily on the trunk and upper limbs (7 in total), which on biopsy were in keeping with cutaneous metastasis (stage IVa) (Fig. ). Screening for systemic progression was negative. The patient discontinued apremilast as there was concern that his tumor had recurred because of the drug. He was placed on anti-PD1 therapy with pembrolizumab, which had to be discontinued due to severe liver toxicity and markedly elevated creatine phosphokinase. He is currently being treated with dabrafenib and trametinib. As the patient was started on systemic therapy promptly after being diagnosed with metastatic disease, we cannot comment whether the discontinuation of apremilast resulted in any regression of his cutaneous metastases.
A 51-year-old black woman with an 18-pack-year smoking history presented to our institution with a 3-month history of a progressively productive cough unresponsive to antibiotics. In addition, she had dyspnea on exertion and a 25-pound weight loss. Her past medical history included a duodenal ulcer resulting in a perforation which required exploratory laparotomy 2 years prior to presentation. Other history included subarachnoid hemorrhage requiring craniotomy with hematoma evacuation roughly 20 years prior to presentation, as well as hypertension. Her family history included her mother being diagnosed with ovarian cancer at the age of 54. The patient is married and worked full-time at the front desk for the past 30 years for a shipping company. She reported alcohol intake of two drinks per occasion twice weekly. She denied the use of any recreational drugs. She denied any environmental exposures. Medications that the patient was receiving at the time of diagnosis included amlodipine and albuterol.\nThe patient underwent computed tomography (CT) of the chest, which revealed a 5.3 × 6-cm right hilar mass that was occluding the right upper lobe bronchus with narrowing of the SVC. The SVC remained radiographically patent (Fig. ). The patient’s vital signs included afebrile temperature of 37.0 °C, cardiac pulse of 100 beats per minute, and oxygen saturation of 96% on room air. Her physical examination at that time was without any clinical signs of venous congestion. She had no facial plethora and had flat neck veins and no signs of jugular vein distention. She had decreased breath sounds in the right upper and middle lung fields. The skin of the neck and breast was without any pitting or edema. Neurologically, the patient was fully functional with cranial nerves II–XII intact and 5/5 strength in the upper and lower extremities bilaterally. All laboratory test results, including complete blood count and comprehensive metabolic panel, were within normal limits.\nTwo weeks after the patient’s initial presentation, she was found to have bilateral distended venous jugular veins, with no facial, neck, or breast fullness, which was self-limiting and resolving prior to chemoradiation. She eventually underwent an endobronchial ultrasound with fine-needle aspiration of the right hilar mass along with the contralateral mediastinal station 4L lymph node demonstrating poorly differentiated NSCLC adenocarcinoma in both sites. She then underwent brain magnetic resonance imaging (MRI) and positron emission tomography (PET)/CT (Fig. ), which revealed no evidence of metastatic disease. She was diagnosed with T2bN3M0 stage IIIB lung adenocarcinoma according to American Joint Committee on Cancer 8th edition staging guidelines.\nThe patient proceeded with expedited radiation planning and treatment, given her radiographic evidence of extrinsic SVC narrowing and physical examination findings of mild and self-limiting jugular venous distention. She received a definitive radiation dose of 60 Gy in 30 fractions concurrent with chemotherapy (cisplatin and etoposide). The patient was simulated in the supine position in a whole-body Vac-Lok ™ (CIVCO Radiotherapy, Orange City, IA, USA) with arms above her head. A four-dimensional (4D) CT simulation was performed using a Philips Ingenuity CT simulation scanner (Philips, Cleveland, OH, USA) to acquire images for treatment planning and assessment of internal target motion. Treatment planning was performed using an Eclipse® treatment planning system (Varian Medical Systems, Pao Alto, CA, USA), and treatment was delivered using a TrueBeam® radiotherapy system (Varian Medical Systems) with two volumetric modulated arc therapy arcs using 6-MV photons. Gross tumor volume (GTV) was contoured on 4D CT images in different phases of the respiratory cycle. An internal target volume was created by the summation of GTV volumes of the different respiratory phases. A 5-mm expansion was used to create the clinical target volume and planning target volume (PTV), respectively. Ninety-five percent of the PTV received at least 57 Gy or 95% of the prescribed dose (Fig. ). Cycle 1 of cisplatin (50 mg/m2 on days 1, 8, 29, and 36) plus etoposide (50 mg/m2 daily on days 1 to 5 and days 29 to 33) started 2 weeks after initiation of radiation therapy. One additional cycle was given after completion of radiation for a total of two cycles of chemotherapy received. The patient did experience some breast swelling and pain that was seen with day 10 of chemotherapy. The event was suspected to be a consequence of the excess intravenous fluids (3 L) coadministered with each infusion of cisplatin. This event was in the setting of the previous stenosis of the SVC resulting from extrinsic compression from the patient’s large right hilar mass. This swelling resolved within 1 week without intervention. The patient also developed esophagitis requiring temporary gastric tube placement necessitating a 5-day hospitalization.\nThe patient returned to the radiation oncology department for a 3-month posttreatment follow-up visit, for which imaging was ordered. The patient reported that for the past 2 weeks she had developed swelling and pain in her right breast and right supraclavicular region, which were new for her. She also complained of worsening dyspnea on exertion, a 16-pound weight gain over the past 3 months, and intermittent headaches. She denied any facial fullness, orthopnea, or dysphagia. Examination revealed that her vital signs were within normal limits; however, she had obvious compressible swelling of the right supraclavicular region and fullness within the right breast. Chest CT performed 2 days prior to the follow-up visit revealed a remarkable reduction in size by approximately 50% of the treated right hilar mass (Fig. ). However, the SVC was significantly narrowed to completely occluded radiographically, despite being narrowed but patent before treatment. The patient was sent to the emergency department for further evaluation and management. Interventional radiology was consulted, and it was concluded that the patient’s SVC syndrome was likely chronic based on the presence of significant collaterals. No acute intervention was recommended, and she was discharged to home uneventfully.\nThe patient did have initial radiographic evidence of stenosis of the SVC; however, her initial stenosis did not produce SVC syndrome. The patient did respond very well to treatment, because she had marked reduction of the tumor volume and decrease in the extent of extrinsic compression on the SVC. It was peculiar that she developed SVC syndrome despite her significant treatment response.\nWe also contemplated intrinsic etiologies for SVC syndrome, including thrombus formation, but this consideration was not confirmed on radiographs. Interventional radiology was consulted and had reviewed her films and did not think thrombus was a likely scenario. There was a concern for recurrent or persistent microscopic disease within the region of the SVC, but there was no fludeoxyglucose avidity in the region on posttreatment PET (Fig. ). The development of an adequate collateral circulation system did indicate the chronicity of venous congestion. The differential diagnosis also included the possibility that the continued stenosis of the SVC was a direct effect of treatment (chemoradiation) because the SVC resided within the PTV receiving the full radiation dose. The SVC was contoured, and dosimetric parameters were as follows: Minimum dose to SVC was 59.74 Gy with maximum dose to SVC 62.36 Gy, and 95% of the SVC received at least 60.35 Gy (Fig. ).\nThe patient was presented at the multidisciplinary thoracic oncology tumor board, and observation was recommended on the basis of absence of tumor progression and presence of an adequate collateral venous system. Her supraclavicular and breast swelling was self-limited, resolving within 2 weeks after her presentation. Six months after completion of radiation therapy, she underwent PET/CT indicating recurrent thoracic disease and had a fine-needle aspiration biopsy confirming metastatic, poorly differentiated adenocarcinoma in a station 4R lymph node. She was placed on the PD-1 (programmed cell death protein 1) inhibitor nivolumab. Brain MRI was performed for workup, revealing two ring-enhancing lesions in the left frontal and right cerebellum, the largest of which was 2.2 × 1.8-cm in the left frontal lobe. Gamma Knife® (Elekta, Stockholm, Sweden) stereotactic radiosurgery was performed on the two lesions. One year after completion of definitive thoracic radiotherapy, the patient was found to have a new metastatic left parieto-occipital brain lesion that was being worked up at the time of this report. She has not had redevelopment of SVC syndrome.
The proband is a 35-year-old male with a 10-year history of sprains and muscle ruptures. He reported six left knee sprains since the age of 17 and two ruptures of the right rectus femoris muscle at the age of 29 and 30, respectively. The patient did not mention any strenuous activity that could explain the ruptures. Given the presence of weakness and discomfort in the shoulder girdle, an ultrasonography of the left superior arm was performed, showing calcifications of the tendon of the supraspinatus muscle.\nAt the age of 31, the patient reported a rupture of the right biceps femoris muscle that occurred in the attempt to dismount his motorcycle. These episodes were followed by a series of spontaneous muscle ruptures of the right biceps femoris and other muscles not related to any exertion.\nAt the age of 30, the patient started complaining about generalized muscle pain and progressive hyposthenia in his proximal lower limbs. The x-ray of the hip bones was normal. The neurological examination and the electrophysiological studies of the limbs were negative. A spinal MRI revealed several disc herniations for which the patient had undergone surgery, without pain relief. Since the muscular pain was invalidating, an opioid therapy was started leading to partial remission.\nDue to the lack of an underlying diagnosis, even after a series of clinical evaluations, the patient came to our attention.\nOn physical examination, the proband was slender and considerably taller than his parents (185 cm vs. 160 cm of the mother and 161 cm of the father). He reported a growing spurt at the age of 16, with a gain of 22 cm in 1 year (from 160 to 182 cm of height). Other findings were pectus excavatum, arm span of 187 cm (arm span/height ratio: 1.01), flat feet, and cutaneous striae on the hips and the thighs.\nOn the clinical suspicion of Marfan syndrome, the Marfan Systemic Score (Dietz, [updated 2017]) was assessed and a score of 4/23 was obtained, making this diagnosis unlikely. Moreover, the ocular examination was normal and the ultrasound of the abdomen did not reveal any vascular abnormality. Serum IGF1 levels, assayed to rule out a pituitary adenoma as the cause of the patient's growing spurt, was normal.\nFurther examinations were performed to investigate the cardiovascular system. An ECG revealed right branch block and left branch hemiblock with a right axis deviation (−120°). An echocardiography showed mild mitral regurgitation and delayed diastolic relaxation. These findings were confirmed during the following 3 years of cardiologic follow-up, without significant variations.\nVascular echo-Doppler showed normal structure and diameters of the aorta and the supra-aortic trunks, as well as of the upper and lower limbs’ arteries.\nAfter coming to our attention, the patient started presenting paroxysmal hypertensive episodes. Further workup, aimed at ruling out pheochromocytoma, revealed normal plasma and urinary metanephrines and no pathologic accumulation of fluorodeoxyglucose (FDG) at the PET scan examination. Repeated Holter monitoring blood pressure showed that daytime values of heart rate and blood pressure (bp) were set at the upper normal levels and there was a significant variability in daytime blood pressure rates with a physiological reduction at night (this pattern is defined as “dipper status”). One year later the variation between daytime and nighttime bp levels further increased (i.e., “extreme dipper”). A therapy with lisinopril failed to guarantee a complete pressure control, so the patient was referred to cardiological follow-up. A switch to carvedilol caused the onset of faintings (min bp: 40 mmHg), so lisinopril was reintroduced. The opioid therapy for chronic pain is still ongoing.\nAlthough the family history was totally negative for collagen-related diseases, the recurrence of sprains and the evidence of cutaneous striae on clinical examination were suggestive of a collagenopathy with cardiac involvement.\nTherefore, we considered the possibility of a cardiac-valvular form of EDS, so we performed a panel analysis of genes associated with inheritable heart diseases. Genomic DNA was extracted from peripheral blood samples using standard procedure. Briefly, the exonic and flanking splice junction regions of genes of interest were captured using the TruSight Cardio kit (Illumina) and sequenced on a MiSeq Illumina system with 150bp paired-end reads. Reads were aligned to human genome build GRCh37/UCSC hg19 and analyzed for sequence variants using a custom-developed analysis tool (Sana et al., ), selecting collagenopathy genes to create a virtual panel. Mean coverage was 285x and >30x for each target region.\nOn note, FBN1 gene was included in the panel and was normal, furtherly disproving the initial suspect of Marfan syndrome. The analysis showed the presence of the heterozygous variant c.3478A>G (p.Ile1160Val) in COL3A1 (NM_000090.3).\nThis variant has never been reported neither in literature nor in the major genetic databases (gnomAD, ExAC). Following ACMG2015 criteria, the mutation was classified as a variant of uncertain significance. It is predicted as neutral by some bioinformatics tools (Provean, Polyphen 2, Mutation Assessor and Mutpred) and damaging by others (SIFT, Mutation Taster and CADD).\nIn HGMD database, 708 COL3A1 mutations, mostly missense, are listed. Several missense mutations associated with vEDS have been described in the 10-amino acid regions upstream and downstream isoleucine 1160 (Figure ), suggesting the presence of a potential hot-spot region at this level. This residue of isoleucine is highly conserved, particularly in mammals (Figure ).\nFurther workup was aimed at investigating the pathogenicity of the variant.\nThe segregation analysis, performed only in the mother (father died at 59 years of lung cancer), was negative, partially supports the de novo origin of the variant.\nAfterward, a skin sample of the patient was achieved to perform a functional study on the fibroblasts. The fibroblasts cultures were grown and maintained in Dulbecco modified Eagle's medium (DMEM) with 10% fetal calf serum. Type I, III, and V collagens were purified from medium and cell layer as described by Valli et al. () and then separated by gel electrophoresis. Gels were processed for fluorography using standard procedures and submitted to quantitation by using the program Image J released from National Institute of Health, USA. The reference range of type III/I collagen ratio has been determined by measuring this ratio in samples collected from healthy subjects over a period of 3 years. This analysis showed delayed electrophoretic mobility of type III collagen (Figure ). A decreased amount of α1(III) chain, as confirmed by the densitometric scan of the fluorogram, was also detected.\nIn the hypothesis that the electrophoretic abnormalities were due to post-transcriptional modifications of the mRNA we analyzed the mutation through “Human Splicing Finder” (Figure ), which predicted the creation of a cryptic donor splice site (CCCGTTGGA).\nThe employment of this cryptic site may result in the synthesis of shortened chains with consequent alteration at a post-translational level, especially in the trimer folding process. Although the prediction made by the software was weak, alternative splicing have been considered as an additional cause of the electrophoretic delay and further mRNA analysis on fibroblasts of the patient has been performed.\nFurther mRNA analysis on fibroblasts of the patient shows no modifications on mRNA length through electrophoresis and Sanger analysis revealing no splicing defects.\nNevertheless, adding the finding of the protein study as a parameter in the computational analysis, the variant can be classified as likely pathogenic according to ACMG2015 criteria.\nA muscular MRI of neck, upper, and lower limbs with axial and coronal T1 and T2-STIR weighted sequences (Figure ) was performed to seek the consequences of type III collagen abnormality on the muscle tissue level. This investigation did not show a selective pattern of muscle involvement, but only diffuse slight signs of fat substitution, mainly in gluteus and soleus muscles, bilaterally. No signs of fat substitution in the other muscle districts examined were reported, neither muscle edema could be detected.
A 56-year-old woman presented in February 2013 with a large breast mass that exhibited skin changes and had significantly increased in size over the past 4 months. Her past medical history was significant for hypertension, high cholesterol, and arthritis of the right knee. Her past surgical history revealed a hysterectomy at age 42 and two cesarean section deliveries. There was no family history of breast cancer. Menarche was at age 9 and she was a gravida 6, para 4.\nOn physical examination, our patient was a well-developed, well-nourished female with an obvious right breast mass. At the time of presentation the mass measured 18 cm in greatest dimension. The skin was bright blue, although still viable, and was stretched over the mass such that it was difficult to distinguish the nipple from other areas of skin. At the time of surgery, her nipple-areolar complex became grossly necrotic (). No axillary, mediastinal, or clavicular lymphadenopathy was appreciated and the contralateral breast was grossly normal.\nUltrasound examination of the right breast revealed a large, lobulated solid mass that was hypoechoic and involved the entire central right breast. Cystic components were identified. There was associated skin thickening anteriorly and internal vascularity was noted within the mass.\nUltrasound-guided core needle biopsy identified a phyllodes tumor with areas of ischemic necrosis and focal squamous metaplasia of the ductal epithelium. The stroma was moderately cellular with mild-to-moderate nuclear pleomorphism. The stromal mitoses varied from 5 to 6 per 10 high power fields (). As per the current guidelines, the tumor was interpreted as at least a borderline PT.\nComputed tomography (CT) scan of the chest at the time of diagnosis did not reveal any pulmonary metastatic disease or any other significant findings in the abdomen. Thoracic nodal basins were unremarkable, suggesting that the patient was free of grossly metastatic disease upon presentation.\nA standard right total mastectomy was performed excising all thinned skin out of concern for viability. The pectoralis fascia was also removed. Extensive vascularity was noted throughout the tumor, although all bleeding vessels were easily managed with standard techniques. No invasion of the pectoralis muscles or axillary lymphadenopathy was noted at the time of surgery. No axillary nodal sampling was performed. The wound was irrigated and a #19 round Blake drain was inserted in the anterior axillary line, followed by closure of the incision with absorbable suture.\nGross examination of the mastectomy specimen revealed a 22×15 cm firm, rubbery, and well-circumscribed tan mass with areas of hemorrhage and necrosis. Microscopic examination identified a fibroepithelial tumor with prominent stromal overgrowth, hypercellular stroma, and multifocal tumor necrosis admixed with hyaline and myxoid degeneration. Stromal cells showed moderate cytologic atypia with increased mitoses – up to 20 per 10 high power fields, consistent with a diagnosis of malignant phyllodes tumor (). All surgical margins were negative.\nThe patient underwent adjuvant radiotherapy. She remained progression-free until an interval chest X-ray and subsequent chest CT performed one year after surgical resection identified multiple pulmonary nodules that were consistent with metastatic disease (). She had no evidence of chest wall or skin recurrence. Five lesions were detected in the right lung and six in the left. A CT-guided core needle biopsy of a lung nodule identified metastatic phyllodes tumor (). At the time of this report, the patient declined chemotherapeutic intervention and is receiving palliative treatment.
A 32-year-old African American male presented to our hospital with a generalized skin rash for the past 3 days. He developed a productive cough, sore throat, and fever one week prior to developing this rash. He also noted rhinorrhea and pink eyes with visual blurring and was prescribed erythromycin eye ointment by a physician. The rash appeared one day using the ointment and was described as a nonpruritic, painless eruption of “bumps” starting on his back and rapidly spreading over his chest and hands. The rash progressed over 3 days and he experienced swelling of both eyelids along with blistering and crusting of his lips. He also experienced mild dysphagia and decided to come to the hospital for further evaluation. He admitted to being allergic to sulfa drugs; however, he had not received any antibiotics other than the erythromycin ointment. He denied any travel, animal exposure, or insect bites. He also denied having any sexual encounters in recent weeks. He had a history of occasional tobacco and marijuana usage, and his last use had been over 6 months ago.\nOn physical examination, he had a low-grade fever of 100.5 Fahrenheit, his pulse rate was 90 beats per minute, respiratory rate was 20 breaths per minute, blood pressure was 130/70 mm of Hg, and he was saturating 90% on room air. His upper and lower eyelids were swollen bilaterally and he had obvious conjunctival erythema (). There were marked necrosis and mucosal sloughing involving his lips (). He had generalized macules and patches on his chest and back (Figures and ), which to a lesser extent also involved his face, abdomen, and arms. The rash appeared in different stages of healing, and targetoid lesions were noted on selected sites most notably his palms (). His genitalia and lower extremities were not involved. On pulmonary examination, the right lower lung fields had fine end-inspiratory rales.\nPertinent laboratory results (with reference values in parenthesis) were as follows: serum creatinine 1.1 mg/dL (0.7–1.4 mg/dL), total bilirubin 0.9 mg/dL (0.2–1.2 mg/dL), AST 99 IU/L (0–50 IU/L), ALT 31 IU/L (0–55 IU/L), alkaline phosphatase 37 IU/L (30–165 IU/L), albumin 3.1 grams/dL (3.2–5.5 grams/dL), total WBC count 11.6 cells/mm3 (3.2–10.6 cells/mm3), hemoglobin 13.3 grams/dL (12.1–15.9 grams/dL), and platelet count 228 cells/mm3 (175–400 cells/mm3). A urine toxicology screen was obtained and returned negative. His chest X-ray revealed a right lower lobe infiltrate (). Blood and urine cultures were negative. In view of characteristic skin rash with mucosal and conjunctival involvement, a diagnosis of Stevens-Johnson syndrome was considered. He was started on moxifloxacin and received methylprednisolone 80 mg IV for a total of 4 doses with minimal response. He was then given 1 g/kg intravenous immunoglobulin (IVIG) divided in to 3 doses, administered on consecutive days while continuing supportive care. Skin and mucus membrane lesions started to heal within 48 hours of IVIG.\nA workup to determine the underlying etiology was pursued while supportive management was continued. Tests for syphilis, Epstein-Barr virus, Herpes simplex virus, Chlamydophila pneumoniae, hepatitis B and C viruses, influenza A/B viruses, and human immunodeficiency virus (HIV) returned negative. A punch biopsy of skin from his left arm was performed and revealed subepidermal inflammation with necrotic infundibular epithelium and necrotic keratinocytes (Figures and ) consistent with Stevens-Johnson syndrome. On day 5 of his hospital course, Mycoplasma pneumoniae IgM by enzyme immunoassay (EIA) returned at a level of 3010 U/mL (<770 U/mL) with Mycoplasma pneumoniae IgG > 5.00 ISR (≤0.90 ISR negative, 0.91–1.09 ISR equivocal, ≥1.10 ISR positive). We thus concluded that this was a case of Stevens-Johnson syndrome secondary to Mycoplasma pneumoniae infection.
A 51-year-old Chinese male had undergone living-donor kidney transplantation for end-stage renal disease (ESRD) due to 8 years of nephrotic syndrome in 2011 at the age of 46 years. His immunosuppression regimen included a combination therapy with tacrolimus 2.5 mg/d, mycophenolate mofetil 1.5 g/d, and prednisolone 10 mg/d. The blood concentration of tacrolimus (FK-506) was monitored regularly at a target level of 4 to 10 ng/mL. No colonoscopy had been performed prior to transplantation, and he did not receive colonoscopic surveillance postoperatively. Renal graft function remained stable in him without any rejection episodes.\nFour years after transplantation, the patient presented with recurrent hematochezia (bright red blood per rectum mixed with stools), and a change in bowel habits manifested by frequent loose stools. He did not pay attention to these abnormal conditions until he began to suffer from progressive general malaise and weight loss of 3 kg during the period of 1 month. A colonoscopy was taken subsequently in January 2016, which revealed a near-circumferential mass at the middle rectum about 8 cm from anal verge accompanied by moderate luminal stenosis. The friable lesion proved to be adenocarcinoma by further biopsy. Having made a definite diagnosis, the patient was admitted to our institution in February 2016. He had a previous history of hypertension for 7 years that could be generally controlled by medication, and cigarette smoking for more than 30 years. Regarding his family history, there were no remarkable findings.\nOn admission, detailed physical examination revealed a temperature of 36.5°C, pulse of 80 bpm, and blood pressure of 106/60 mm Hg. No special signs were noted except for a healed surgery scar on his right lower abdominal wall. The lower margin of a solid, irregular mass was touched about 6 cm from anal verge through a digital rectal examination. Laboratory tests showed hemoglobin was 133 g/L, fecal occult blood test was positive, serum creatinine was 88 μmol/L, liver function test was normal, and most serum tumor markers (AFP, CEA, CA19-9, and CA72-4) were within the normal range but CA242 was slightly elevated. The following computed tomography (CT) scan demonstrated a soft tissue density mass protruding into the lumen of upper-middle rectum, with the wall thickening and peripheral lymph node metastasis and the transplant kidney was located in the right pelvic cavity (Fig. ). No evidences of distant metastasis were suggested. FK-506 was 4.7 ng/mL at that time. According to recommendation of interdisciplinary team including urologists, medical physicians, and general surgeons, immunosuppressive therapy with previous regimen was extended perioperatively. Meanwhile, 100 mg of intravenous hydrocortisone was added before anesthesia induction, and turned to a dose of 50 mg/8 h postoperatively for 1 day to prevent acute renal failure caused by the attack of surgery.\nWithout any surgery contraindications, a laparoscopic assisted low anterior resection with total mesorectal excision (TME) was performed then. After induction of general anesthesia, the patient was positioned in the lithotomy position. Complete exploration of the abdominal cavity suggested that there was no liver and peritoneal carcinomatosis. The tumor was identified locating at the middle-lower rectum. Specific surgical procedures started with lysis of abdominal adhesions from previous surgery. The sigmoid mesocolon and mesorectum were dissected along the inner side of the ureters by harmonic scalpel, and the vessels and lymphatics were ligated at the root of the superior rectal vessel with Hem-o-lock. The distal rectum was transected intracorporeally 3 cm from the distal margin of tumor with a EC45-A laparoscopic linear stapler (Johnson & Johnson, Cincinnati, OH, USA). After that, a 6 cm left supraumbilical incision was made to remove the proximal rectum, the distal sigmoid colon, and the surrounding tissues of the rectum 10 cm from the proximal margin of tumor. The specimen was obtained for further pathological evaluation (Fig. ). Reconstruction was performed intracorporeally in the manner of straight end-to-end colorectal anastomosis using a 28 mm transanal circular stapler (COVIDIEN, Mansfield, MA, USA) (Fig. ). Finally, 2 drainage tubes were placed in the pelvic cavity surrounding the anastomosis site. In order to prevent postoperative anastomotic leakage, a loop transverse colostomy was performed (Fig. ). The operation was completed successfully within 2 h with a proximate blood loss of 100 mL. Histopathology revealed a well-moderately differentiated adenocarcinoma measuring 4.2 × 5 × 2.3 cm, with invasion through the muscularis propria into pericolorectal tissues (Fig. ). The resection margins were free of tumor. Among the removed 14 lymph nodes, 3 contained metastatic cancer, indicating the tumor stage of pT3N1M0. Furthermore, immunohistochemistry showed the tumor was negative for MLH-1, MLH-2, MLH-6, and PMS-2.\nApproximately 4 h after surgery, the patient developed archorrhagia (dark red blood and clots per rectum), and the amount of blood loss increased up to 200 mL within 1 h. After exploration per anus, a bleeding wound near the anastomosis was identified and the control of hemorrhage was performed timely. There was no recurrence of archorrhagia ever since. The further postoperative course was uneventful. Graft function stayed well, and serum creatinine levels were always within the normal limits, ranging from 80 to 104 μmol/L. The ostomy was opened on the third postoperative day, and flatus was passed then. The patient went on a liquid diet 4 days after surgery and made a recovery soon. He stayed in hospital for 9 days after surgery, and drainage tubes were removed at discharge.\nDuring 4 months of follow-up period, immunosuppressive therapy with tacrolimus 2.5 mg/d, mycophenolate mofetil 1.5 g/d, and prednisolone 10 mg/d continued, no allograft rejection and complications were observed. Considering his tumor stage, he received adjuvant chemotherapy with a regimen of FOLFOX (oxaliplatin/5-fluorouracil/calcium folinate). After 8 cycles of chemotherapy, repeated CT scan indicated no evidences of local recurrence and distant metastasis. To date, the patient was in a good condition.
The following is a description of the case of a 25-year-old woman with the initials S.K. in her second pregnancy who came to our antenatal consulting centre.\nThe first screening for blood count, blood group, biochemistry (ALAT, ASAT, creatine, urea, blood sugar) showed results within the reference range. Hbs Ag, HIV, Wasserman, IgG, IgM (toxoplasmosis), IgG, IgM (rubella), IgG, IgM (CMV) were negative.\nAt that time the woman was at 6 – 7 weeks gestation. Biochemical screening generally is done at 12 – 13 weeks gestation showed results within the reference range (low risk of development of a baby with an abnormality, low risk of developing preeclampsia in the second half of pregnancy and low risk of premature birth).\nThe patient came for a second comprehensive biochemical screening at 17 – 18 weeks gestation. The results showed the low genetic risk of congenital anomalies. Fetal morphology of the fetus was normal.\nS.K. came again for consultation at 22 weeks gestation in connection with the admittance of her first 3-year-old child to the hospital because of pneumonia. Serological tests of the child had shown elevated CMV titer - specific IgM.\nThen we made new serological tests of the patient and the results were as follows: CMV – specific IgG – 98; CMV – specific IgM – 2.1. It was then understood that the patient was most likely infected by CMV primarily in the first trimester of pregnancy. After consulting about the risk of transmission of CMV to the fetus the woman chose monthly ultrasound scans and refused amniocentesis.\nThe results of all ultrasound scans were normal until that time. At 24 weeks gestation fetal brain ultrasound scan showed thalamic calcifications bilaterally, hyperechogenic foci in the right side of the ventricular wall, asymmetric ventriculomegaly > 10 mm ().\nSimilar changes were imaged at 28 weeks gestation and also cerebellar developmental delay was noticed. Also, hepatomegaly was found at otherwise eutrpophically developing a fetus.\nAfter that patient, S.K. consented to do of amniocentesis as changes were already verified by ultrasound. Amniotic fluid analysis detected that the fetus was positive for CMV (CMV – specific IgM titer was 68), thrombocytopenia – 46 g/l. Levels of fetal liver enzymes were normal. Following consultation on the possible consequences of CMV infection of the fetus, the parents chose to continue with the pregnancy.\nIn the next ultrasound scanning to follow at 32 weeks gestation not only cerebellar developmental delay was noticed, but also of the head as a whole (microcephaly).\nAt 36 weeks gestation, in addition to the microcephaly already established, enlargement of the IV brain ventricle at the expense of underdevelopment of the cerebellum was noticed. Also, 2nd to 3rd stage of placenta maturity and low quantity of amniotic fluid was established ().\nThe patient was admitted to an obstetrics and gynaecology clinic for active monitoring. Cardiotocography was done on a daily basis. Upon the occurrence of two consecutive non-reactive NST and presence of late decelerations, a decision for delivery was taken. Because of the relatively immature fetus and low pelvic score a caesarian section delivery was done. A male fetus of weight 2,890 g and height 50 cm was delivered. The fetus was with skin petechiae and hepatosplenomegaly. Neurological examination showed no abnormalities. Thrombocytopenia was confirmed (Hg 66 g/l). The newborn baby was treated with Acyclovir i.v. – 5 mg / g / 12 h for 6 weeks ().\nPresently, the baby is six-month-old, of normal neurological status and preserved hearing.
The present case report is about a 72-year-old male patient who reported with oral discomfort and difficulty in swallowing since past 5 months. He gave a history of soreness of the oral mucosa with burning sensation on eating spicy food since past 9 years, but his symptoms had exacerbated in the past 5 months. He now complained of sore throat and difficulty in swallowing solids since past few months forcing him to a semisolid and liquid bland diet. He complained of multiple ulcers in the mouth and enlarged swollen bleeding gums, which had not resolved with symptomatic treatment given by his physician (topical lignocaine gel and chlorhexidine mouthwash). He informed that several of his teeth had progressively become mobile and had spontaneously exfoliated in the past 2 years. The partial denture that he had been using had become tight and was painful on insertion in the oral cavity. He found it difficult to eat or speak clearly without his denture.\nHe had been diagnosed with benign prostrate hyperplasia but was otherwise well and did not have any history of constitutional symptoms like fever, loss of appetite/weight, fatigue and arthralgia. He did not have any habits of smoking, tobacco and alcohol. There was no history of allergies or family history of similar condition. There was no history of skin, ocular or genital lesions. He did not have any systemic illnesses such as diabetes, hypertension, rheumatoid arthritis and was not taking any regular systemic medications.\nOn examination, there were erosive areas on the buccal mucosa, palate and tongue. There was no evidence of any vesicles, bullae or scarring and Nikolskys sign was negative. There was generalized inflammatory enlargement of the gingiva including the palate, extending into the pharynx. The gingiva, palatal and oropharyngeal mucosa was fiercely erythematous, edematous, with a cobble-stone like velvety shiny irregular surface which bled on palpation. According to the World Health Organization (WHO) toxicity criteria for oral mucositis the oral condition of the patient was indicative of grade 3 of severe mucositis (ulcers, extensive erythema, patient cannot swallow solid diet). The maxillary and mandibular arches were edentulous posteriorly. The remaining anterior teeth were mobile with pathological migration, gingival recession and purulent discharge from the pockets [Figures and ]. The submandibular and submental lymph nodes were palpable, mobile and tender on palpation.\nBased on the clinical findings, this condition could be due to local factors or it could be an oral manifestation of a systemic condition. The differential diagnosis considered is shown in .\nFurther investigations were carried out after obtaining informed written consent from the patient. The results of the various investigations carried out are shown in .\nBased on clinical, radiological [], histopathological findings [Figures –] and results of various investigations a diagnosis of PCM was made.\nThe patient was prescribed topical corticosteroids (tablet betamethasone 1 mg as a mouthwash and gargles 4 times daily, Triamcinolone acetonide gel 0.1% for topical application 4 times daily). Symptomatic treatment for oral burning sensation (lidocaine gel) was prescribed for local application before meals to prevent discomfort while eating. The patient was followed-up weekly. At 2 months follow-up, there was only mild improvement in the oral burning sensation while the gingival bleeding had stopped. There was however no improvement in the erythematous, edematous appearance of the palatal and gingival lesions. The erosions in the buccal mucosa and tongue also persisted. The anterior teeth became progressively mobile and were extracted. The patient was then prescribed systemic corticosteroids (tablet prednisolone 60 mg once daily) along with topical application of corticosteroids and antifungal mouth paint. The patient was also prescribed proton pump inhibitors and calcium supplements prophylactically to prevent side-effects of long term corticosteroid therapy. The patient was followed weekly and at 2 months follow-up, the erosions in the buccal mucosa and tongue had resolved. There was significant improvement in the clinical appearance of the gingival, palatal and pharyngeal lesions on oral and endoscopic examination [Figures and ]. The patient reported improvement in swallowing food (able to swallow solids) and oral burning sensation. The oral condition was indicative of grade 1 according to the WHO toxicity criteria for oral mucositis (soreness ± erythema). The patient was also able to resume the use of complete dentures. The systemic steroid was gradually tapered off over the next 6 weeks. There was a relapse of the lesions in the following month. Attempts at surgical excision of the hyperplastic lesions in the gingiva and palate also resulted in recurrence. Topical application of tacrolimus (0.1%) or 2% fusidic acid also did not yield any results. The patient was restarted on systemic steroids and is now maintained on a dose of 10 mg of prednisolone and topical antifungals for the past 3 months. Attempts at further reduction of prednisolone results in relapse and increase in oral symptoms. Regular monitoring for side-effects of long term steroid therapy is carried out.
A 12 years old female child reported to the Department of Periodontics, Government Dental College and Hospital, Nagpur complaining of gingival swelling, which caused severe compromise in her speech, mastication and aesthetics and led to considerable disfigurement of her facial profile, owing to the severity of gingival enlargement. The patient reported that the gingival enlargement started with the eruption of permanent dentition but progressed slowly to cover the entire permanent dentition. No single tooth was visible due to enlargement in anterior region whereas only occlusal portions of teeth were visible in posterior region. It was difficult to predict whether the positions of teeth were hampered due to massive gingival mass. However, the panoramic radiograph revealed normal bone height and tooth positioning.\nThe extra oral examination revealed an exaggerated convex profile with highly incompetent lips as the tissue bulge was protruding out of the mouth. The intra oral examination revealed generalised gingival overgrowth including both maxillary and mandibular arches extending into the vestibular areas []. The pink, leathery consistency tissue was hard on palpation and covered complete crowns of the entire dentition. The intra-oral examination confirmed that the patient used to masticate with assistance from the gums, however, no ulcerations were found on the occlusal surfaces of the enlarged tissue. A scanty amount of plaque and food debris was entrapped into the posterior teeth which were partially visible amongst the entire dentition with no significant inflammation present around them.\nRoutine blood investigations were done and values were found within normal range although haemoglobin values was slightly below normal range (8.5 gms%). The blood group examination was also done owing to the need for blood transfusion which was deemed necessary for maxillary arch gingivectomy after complete clinical evaluation. Based on the provisional diagnosis, an incisional biopsy was done and sent for histopathological examination to confirm the diagnosis.\nThe patient's medical history did not reveal any drug induced gingival enlargement or hormonal changes and exhibited no signs of hypertrichosis or mental retardation that could be associated with gingival hyperplasia.\nHer family history was significant because her elder sister (15 years old) also revealed the presence of gingival enlargement but, was not willing for treatment as it was not causing any aesthetic and functional compromise. Her parents did not reveal any evidence of gingival overgrowth.\nThe enlarged tissue was removed by the external bevel gingivectomy under local anaesthesia quadrant wise only in the mandibular arch. Periodontal dressing was applied and chlorhexidine, haematinics and fortified B-Complex vitamins were prescribed for two weeks. For maxillary arch gingivectomy was performed under general anaesthesia. The patient was admitted to the hospital a day before the surgery where she was pre-medicated with requisite antibiotics and anti-inflammatory agents (Amoxicillin and Cloxacillin 500 mg, in divided doses 12 hourly and Piroxicam 20 mg, 8 hourly). There was significant blood loss during the surgery which was compensated by putting the patient on blood transfusion (2 pints of 350 ml each over 2 days). The post-operative instructions were reinforced and a custom made acrylic stent was placed against the surgical area containing periodontal dressing. The patient was discharged on the third day and was asked to continue with the medications till 7 days.\nThe histological evaluation of the section revealed moderately dense to highly dense collagenous connective tissue with collagen bundles arranged in haphazard manner. The connective tissue was relatively avascular with scanty inflammatory cells infiltrate. The overlying epithelium was hyper-plastic with enlarged rete ridges. The histopathological picture was suggestive of gingival fibromatosis [].\nPost-surgical healing was uneventful. The stent contained periodontal dressing was removed after one week. The surgical area was profusely irrigated with Betadine and normal saline. Post-operative instructions were reinforced and the patient was recalled after two weeks, one month and three month intervals for post-surgical evaluation. Post surgically her facial profile improved dramatically and the patient was satisfied with the result [].
A 15-year-old female patient reported with a complaint of swelling on the left side of the lower face for 3 years. She noticed progressive increase in size of the swelling and reached the present size. She also noticed increasing asymmetry of the face. No pain was associated with it. Family and medical history were noncontributory.\nOn extraoral examination, facial asymmetry was observed owing to an hyperpigmented swelling on the left side of the mandible. Clinical examination revealed soft, nontender, hyperpigmented swelling lateral to left chin region 2 cm below the corner of mouth and 1 cm above the lower body of mandible []. On inspection, no visible pulsations were noticed. On palpation, the swelling was nontender and soft in consistency and compressible. Pulsation and bruit were noticed just below the left corner of mouth and submandibular region. There was no local rise in temperature.\nNo visible swelling was noted intraorally. There was mobility of 34, 35, 36, and 37 and 35 and 36 depressed on applying pressure. Pulsation and bruit in relation to buccal vestibule of 35 and 36 were noticed [].\nA provisional diagnosis of vascular malformation was given based on palpable pulsation, bruit, and history.\nOcclusal radiograph showed mild expansion of buccal cortical plate in relation to 36, 37, and 38 regions []. Panoramic radiograph revealed ill-defined radiolucent lesion with poorly defined margins confined to the left body of mandible extending from distal aspect of 32 till radicular aspect of developing tooth germ 38. Root resorption of 34, 35, 36, and 37 with loss of lamina dura noticed. Altered trabecular pattern, thinning of inferior cortical border of right mandible, and dilated inferior alveolar canal on left side, which cannot be traced anteriorly was also noticed [].\nUltrasonography of face and neck was done using 12-MHz transducer which revealed the increased vascularity in the course of left facial artery anterior to left masseter in color flow Doppler imaging []. Increased vascularity also was noticed over the vessels of left submandibular gland [].\nContrast-enhanced CT of mandible revealed large expansile lesion on left body of the mandible with brilliant enhancement after intravenous contrast and minimal rarefaction of lingual and labial cortex with very rich vascularity. Prominent serpiginous nidus of vessels seen at left half of mandible and adjacent subcutaneous compartment supplied through branches of external carotid arteries such as lingual, facial, and superficial temporal arteries representing AVM of the left mandible [].\nUnder local anesthesia through left femoral arterial approach, left external carotid angiogram was done, which revealed evidence of AVM in the left side mandible with feeding arteries from branches of left external carotid arteries such as lingual, facial, and superficial temporal arteries which were dilated and tortuous []. This confirmed the diagnosis of AVM on the left side of mandible.\nUnder general anesthesia by nasoendotracheal intubation, after embolizing the feeder vessels, the mandible was resected en bloc with the pathologic contiguous soft tissue from the area of the left ramus to the mesial aspect of the left lateral incisor. After resection and removal of the involved mandibular segment and control of hemorrhage, teeth 32, 33, 34, 35, 36, 37, and 38 were extracted from the segment and the convoluted vascular mass was curetted. The remaining cortical shell was then grafted with a corticocancellous block of bone from the right fibula. The patient is under regular follow-up till now.
A 54-year-old man presented to the emergency department complaining of a one-month history of non-specific abdominal pain in the left abdominal quadrant and a weight loss of about 10 kilograms in less than six months. Past medical history and physical examination were unremarkable. Laboratory tests were all within the normal range. A computed tomography (CT) scan of the chest, abdomen and pelvis revealed nodular formation (5.1 x 3.9 cm) of mixed nature with a posterior tissue component that captured the contrast product and an anterior component of a cystic nature, localized in the posterior margin of the great gastric curvature, without evidence of lymphadenopathies and no distinct planes with adjacent structures namely with spleen and left adrenal gland (Figure -). Upper gastrointestinal endoscopy was normal and biopsy showed superficial chronic gastritis with positivity for Helicobacter pylori. Endoscopy ultrasonography (EUS) was then performed showing a hyperechogenic formation with regular and well-defined limits, apparently unrelated to the gastric wall, with a cystic component. No changes in the morphology and thickness of the different layers of the gastric walls were identified. Biopsy puncture with 19G needle from EUS was done, but fragments obtained were inadequate for diagnosis. The patient underwent an exploratory laparoscopy converted to open surgery when a large tumoral mass adhering to the gastric fundus was found surrounding the spleen and left adrenal gland. He was submitted to an en-bloc resection of the mass with partial gastrectomy, splenectomy and left adrenalectomy. The patient’s postoperative course was uneventful. He was discharged 10 days after surgery. Histopathologic gross examination of the surgical specimen showed stomach with a cystic lesion (2 cm) developed in the gastric wall but not related with the gastric mucosa, with an underlying white and firm tissue (5 x 1.8 x 1.8 cm), with areas of serous content, infiltrating the splenic and left adrenal gland (Figure ). The lesion developed in the gastric wall, without communication with the gastric mucosa, which had no significant changes. Histologic evaluation revealed that the cyst had ciliated pseudostratified epithelium, underneath with a muscle layer continuous with the gastric muscular layer (Figure , ). The cyst exhibited ulcerated areas, where an epithelial malignant neoplasm was evident. The tumor was composed of glands of irregular contours, juxtaposed, widely infiltrative and with marked desmoplastic reaction (Figure , ). Phenotypically the tumor displayed strong staining for EMA (MUC1) and CK7, with heterogeneous staining for MUC5AC and MUC6 and no staining for MUC2 and CK20 were registered. Stained slides were observed in a light microscope, Nikon Eclipse 50i, and images obtained using a Nikon-Digital Sight DS-Fi1 camera (Nikon Instruments, Inc., Melville, NY). Eight lymph nodes were isolated without metastatic disease. Lymphovascular and perineural invasion were evident. These aspects were consistent with moderately differentiated pancreatobiliary adenocarcinoma developed in a gastric duplication cyst. The patient was evaluated in multidisciplinary team discussion (MTD) and was proposed for adjuvant chemotherapy (ChT) with modified FOLFIRINOX scheme (5-Fluorouracil 2400 mg/m2 46h continuous infusion; Levofolinate sodium 200 mg/m2 D1, Oxaliplatin 85 mg/m2 D1, Irinotecan 150 mg/m2 D1, 12 cycles, biweekly). At baseline of treatment, tumor markers were negative. Three months after completed ChT, the patient referred an abdominal left pain. The CT scan revealed a nodular lesion with 2.5 x 3 cm adjacent to pancreatic tail and suspect peritoneal implants. The biopsy confirmed that they were metastatic lesions. The patient was discussed again in MTD and was proposed for second-line palliative ChT with nabpaclitaxel (125 mg/m2) plus gemcitabine (1000 mg/m2), D1-8-15, 28/28 days. After 13 months of treatment, the patient had stable disease in the last response evaluation.\n
The patient was a 67-year-old African-American gentleman who presented to his local community hospital emergency department complaining of an abrupt onset of right arm weakness and dizziness which resulted in a fall with associated head injury. The patient denied specific loss of consciousness or seizure activity. A chest X-ray at his initial evaluation demonstrated a nodule in the left upper lobe. A computed tomography (CT) scan of the brain showed a single left frontal lobe mass with vasogenic edema. CT scans of the chest, abdomen and pelvis revealed mediastinal adenopathy, and two lesions in the left upper lobe, consistent with a primary lung disease. A follow-on MRI of the brain demonstrated a single 2.1 cm enhancing lesion in the left precentral gyrus. A CT-guided fine-needle aspirate of the lung lesion demonstrated small cell lung cancer.\nHe met with a medical oncologist who outlined a treatment plan consisting of systemic chemotherapy followed by radiation to the brain and possibly concurrent radiochemotherapy to the chest. Immediately following his first round of systemic chemotherapy, a staging PET/CT demonstrated two hypermetabolic pulmonary lesions, the largest measuring 3.5 cm, extensive bilateral mediastinal and hilar activity, and a PET-avid right adrenal mass. He completed three cycles of a “programmatic”, locally defined cisplatin and irinotecan regimen with near complete resolution of his right-sided arm weakness. Restaging brain MRI demonstrated interval shrinkage in his single lesion and no further intracranial progression. A chest CT demonstrated a reduction in size of the lung lesions and resolution of the hilar and mediastinal adenopathy.\nPrior to his next planned cycle of chemotherapy, he was seen in the Radiation Oncology Department. His complete history was reviewed, and he was staged with ES-SCLC or Stage IV, T3N2M1 by AJCC criteria []. After a discussion of the risks and benefits, the patient was treated to a C1-whole brain field using opposed lateral fields, angled posteriorly to avoid divergence anteriorly into the orbits using 250 cGy fractions to a total dose of 3,500 cGy. He had an excellent response to his cranial irradiation with subsequent MRI showing complete resolution of the known lesion and no new progression.\nHis PET/CT scan after completion of three cycles of chemotherapy showed resolution of the contralateral hilar disease as well as the subcarinal and adrenal disease. Due to his excellent response and good overall functional status, he was offered thoracic radiation, limited to the remaining PET-avid areas, all of which were confined to his left thorax. His planning CT scan was merged with his postchemotherapy PET/CT images, and the PET-avid areas were contoured as the gross tumor volume (GTV). A 1.5 cm margin was added for clinical target volume (CTV) with an additional 0.5 cm margin to arrive at a planning target volume (PTV). He was treated with an APPA field arrangement using 180 cGy fractions to 6,120 cGy concurrently with three addition cycles of cisplatin and irinotecan. Imaging studies completed near the end of his thoracic irradiation showed no evidence of further disease progression. He continues to do well clinically although he does continue to smoke. His latest imaging studies, a CT of the chest and an MRI of the brain, occurred approximately seven months after completing radiation therapy and showed a stable pulmonary nodule and no evidence of intracranial progression. His current followup regimen is a physical exam and chest CT scan every two months with a brain MRI every other visit.
An 8-year-old girl was admitted to our general ward because of left lower extremity pain and ulceration. In outpatient visits she received analgesics as it was assumed that the pain was musculoskeletal. The chief complaint had begun 80 days prior to presentation. Left leg pain gradually increased from a simple sore foot only after playing or walking to a severe continuous pain that became aggravated during the night. At first, the skin over the shin became scaly, then erythema and ulcer appeared. The girl's parents denied any recent trauma.\nThe patient was born at 28 weeks' gestational age with 570 g weight and 29 cm height. There was no history of exchange or umbilical catheterization in the neonatal period. Expect for a delay in speaking, the rest of her developmental milestones were normal. The postnatal hearing screening test was normal. Growth parameters were always undesirable. At the age of 2 years, she experienced a prolonged seizure and right hemiplegia due to a cerebrovascular accident. Thrombophilia was not diagnosed when the accident happened, but aspirin and enoxaparin were started. After that, phenobarbital was started because of convulsions, but since drug tapering was associated with stuttering and prolonged aphasia, the drug was continued. She was the third child of non-related parents. The other children were normal.\nOn physical examination, she was a sweet girl interested in socializing. Her general condition was good but she seemed tired and sad, because of difficulty in falling asleep for a long time. Her head circumference, weight and height measurements were 35 cm, 7 kg and 77 cm, respectively. Her bird-like face was remarkable. Her hair was sparse and thin. Her skin was highly pigmented. There was no pallor or jaundice ( and ). Body temperature was within the normal range. Other vital signs, including blood pressure and level of consciousness, were normal.\nThe left foot was cool and bluish compared to the other side. The dorsalis pedis pulses of both extremities were not detectable. The popliteal artery pulse was not detectable on the left side but the right side was normal. Femoral pulses were normally palpable. No edema or varicose veins were apparent. The skin of the left extremity was shiny and a 5 by 3 cm corrosive ulcer with well-demarcated and gangrenous margins was evident on the shin. The ulcer bed was white and dark red without any obvious secretion (). There were also two smaller wounds on the fourth toe and anterior aspect of the knee on the same side. The ankle brachial index was 0.2 and the resting ankle pressure was 40 mmHg. Oxygen saturation was 35% and 95% in the left and right toes, respectively.\nSensory system examinations of both legs were normal at the level of patient cooperation. However, the patient complained about a burning sensation in the left extremity. The muscle strength of the right upper and lower limbs was slightly lower than that of the left, because of the previous cerebral cardiovascular event. Her heart, lungs and abdomen were normal.\nSince we were suspicious of a vascular problem according to the history and physical examination, we urgently asked for a consultation with a vascular surgeon and ordered Doppler ultrasound and limb angiography. Doppler ultrasound revealed a monophasic spectral wave and low peak systolic velocity in the left limb. In parallel, CT angiography confirmed long segmental narrowing and significant stenosis in the left superficial femoral artery ().\nThe potential complications of endovascular surgery in such a patient with small vasculature were described to the parents and they did not consent to surgical intervention. On the other hand, there is not sufficient evidence on the safety and efficacy of several medical treatments in pediatrics. Therefore, conservative wound care, organ placement at the level of heart, aspirin and better nutrition were recommended.\nOn the follow-up visit, the condition of the wound had improved. The patient's mood, appetite and sleep were not acceptable, so a psychological consultation was requested.
This is a case report of a 41 year old male patient who suffered a knife inflicted injury to the face. He was referred to our department 20 months after the incidence complaining of persistent discomfort with downward gaze of the left eye. He reported being agitated and feared a possible sight-threatening condition after the alleged assault. He was transferred to an emergency department where he was examined by an ophthalmologist who reassured him that his globe was intact and sutured the deep cut wounds related to his upper and lower eyelids. He was reassured that the facial edema would subside and the neurosensory deficit he was suffering from would eventually recover. Empirical antibiotics, Analgesia and tetanus prophylaxis were prescribed and the patient was discharged from the emergency department. He was unsatisfied with the resultant scar in his left eyelids and six months later was re-examined by a plastic surgeon that performed blepharoplasty. The persistent complaint of discomfort related to his left eye led him to seek medical advice again before being referred to our department.\nSystematic thorough clinical and radiographic examination was performed. Upon inspection, it was noted that the left globe was displaced superiorly with increased scleral show (a). Bimanual palpation was done and a hard object could be felt behind the orbital rim of the left eye; although it was not visible externally. No evidence of diplopia was noted by ophthalmological examination. Plain radiography (Paranasal sinuses view (P.N.S) and lateral skull view) revealed a radiopaque foreign body (FB) lodged inside the orbital floor and directed downward & posteriorly (b and c). Computed tomography (CT) scan was ordered to precisely localize the foreign body and its relation to the surrounding structures. The foreign body was found penetrating the facial skeleton at the level of the orbital floor and transgressed the maxillary antrum and its tip reaching the pterygoid plates of maxilla (d–f).\nManagement of this type of injury has no formally documented guidelines in literature. The decision for surgical removal of this foreign body was made based on the patient's chief complain, general surgical principles and facial esthetics. An extraoral approach under general anesthesia was chosen and a preoperative informed consent was obtained. The orbital floor was exposed through a subciliary incision and the intraorbital portion of the foreign body was found firmly anchored to bone. A vertical osteotomy from the orbital rim to the anterior wall of the maxillary sinus was performed to avoid extraction of the object along its path of insertion. A wire-twister was used to firmly grasp the foreign body which was retrieved without any significant bleeding and was found to be a stainless steel knife blade (a). The orbital floor and rim were carefully evaluated and the need for internal orbital reconstruction was found unnecessary.\nAt that point it was noted that a portion of the foreign body, considered the blade tip, was not retrieved. A C-arm was used in an attempt to guide its localization and removal but provided insufficient information. The risks of proceeding with a blind surgical approach in the complex maxillofacial region outweighed the benefits of removing the retained foreign body and the decision to terminate the surgery was made. The possibility of returning at a later stage for a more extensive procedure after obtaining a new patient consent and the required radiographs was considered. The patient was discharged the same day of the operation and was regularly monitored in the first two weeks postoperatively (b–d).\nAt the first and third months of the follow up period, the patient has made rapid recovery with no signs or symptoms of infection. At 1 year of postoperative follow up, clinical examination showed normal symmetrical eye position and no ectropion (a) as well as improvement in the neurosensory deficit. At 2 years of postoperative follow up, radiographic examination showed bone healing of the previous defect at the orbital rim (b). It also demonstrated that the impacted portion of the foreign body has remained lodged in the exact same position (c). The option of leaving or retrieving the foreign body was presented again to the patient but he ensured us to be extremely satisfied with the outcome and refused to proceed with further surgical procedures.
A 9-year-old boy was brought by his father due to disturbed behaviour with attempts to run in front of traffic over the 2 days preceding the presentation. He was overactive and aggressive, hitting and biting others. His sleep was disturbed.\nHe has been well until 2 months ago, at which time he refused to go to school citing somatic symptoms. He later reported being physically punished by a school teacher which appeared to have led to the school refusal. During this period, he was irritable and anxious. He reported suicidal ideation and threatened to jump into their well on one occasion, following an argument with his mother. He was socially withdrawn. His sleep was disturbed and he had poor appetite. He was diagnosed as having a depressive episode and commenced on sertraline 25 mg mane 3 weeks prior to the current presentation. His father reported some improvement with this in terms of his activity and dose was increased to 50 mg 2 weeks later. After about 5 days, he became very disturbed, attempting to run off. His father brought him to the hospital as they could not safely contain him at home.\nHe was the older of 2 siblings and lived with his parents and younger sister. There was a family history of bipolar affective disorder in one of his first cousins. His parents were supportive, but there were marital conflicts and he reported witnessing domestic violence between them. His birth and development history were normal and past medical and psychiatric history were unremarkable. His school performance has been average. Although his parents reported him as being hyperactive and stubborn, his school teachers claimed he was a well-behaved child who could concentrate and completed the tasks he was given. There was evidence of inconsistent parenting styles with his father being authoritarian and mother being very permissive.\nOn mental state examination, he was an average built boy dressed casually. During the initial interview, he attempted to run off and was restrained physically by his father. He was angry and screamed using obscene words. He was admitted to the in-patient unit. Sertraline was ceased. Clonazepam was used for sedation. As his agitation reduced, he was noted to be socially disinhibited. He had pressure of speech. He did not have flight of ideas. He was extremely irritable. But at times he sang and danced in the ward. There was no suicidal ideation. He expressed self-expansive ideas. He did not have any delusions or hallucinations. He was oriented in time, place, and person. He was distractible and could not engage with cognitive testing. He had poor insight. Physical examination including cardiovascular, respiratory, and nervous systems and the abdomen was unremarkable. He did not have any abnormal movements and bilateral fundi were normal.\nInvestigations including full blood count, C reactive protein, and thyroid function tests were normal. Electroencephalography recorded in the alert state was normal for the age. Contrast enhanced computerized tomography of the brain was normal.\nHis presentation met criteria for treatment-emergent mania []. He was commenced on risperidone and dose increased to 2 mg twice daily at which point he developed extrapyramidal side effects. As his symptoms persisted beyond one week and there was a positive family history, a diagnosis of bipolar affective disorder, currently manic episode without psychotic symptoms, was made. Sodium valproate was added and dose increased up to 200 mg twice daily. Risperidone was changed to olanzapine after 3 weeks as he continued to have significant emotional and behavioural disturbances; he was extremely irritable and physically aggressive. He showed slow improvement in his mental state after increasing olanzapine to 5 mg twice daily. Following 4 weeks of treatment with olanzapine and sodium valproate, he was discharged home after discussing extensively with his parents regarding the diagnosis, risks, and treatment.\nUpon review after 1 week, his parents reported further improvement in his irritability and overactivity and he was continued on the same medication. He was reviewed every 2 weeks for the next month and continued to show improvement in mental state. However, he showed significant weight gain while on treatment. Metabolic screen was done at 4 weeks and investigations were normal. Dietary advice was provided and physical activities were encouraged. Switching to aripiprazole was discussed; however it is not available in the public hospitals in Sri Lanka and parents were not able to afford it. Olanzapine dose was slowly reduced. He then had a relapse of manic symptoms and was commenced on lithium carbonate. Sodium valproate was tailed off. The treating team continued to support parents and liaised with school to ensure smooth transition back to school. His symptoms improved and he was able to go back to school. Olanzapine was tailed off and lithium dose was optimized.
A 31-year-old gravida 3 para 1 patient presented to antenatal clinic at 19 weeks and 3 days' gestation to discuss the results of her morphology scan which had demonstrated a grade 4 placenta previa covering the cervical os. She had a medical history significant for Arnold Chiari malformation requiring craniotomy in 2006 as well as correction of a Syringomyelia in 2005. She also suffers from irritable bowel syndrome but was taking no regular medications and had a BMI of 23. Her first pregnancy resulted in a spontaneous miscarriage that did not require dilatation and curettage. Her second pregnancy resulted in a planned elective caesarean due to concerns about raised intracranial pressure during labour, as recommended by her neurologist. She had routine antenatal care this pregnancy which had been unremarkable to date.\nThe morphology scan demonstrated a small omphalocele but otherwise no significant structural defects and estimated foetal weight was noted to be within the normal range. During the clinic review, the fetus was found to have a heart rate well below 100 bpm. Repeat ultrasound the following day confirmed IUFD. This ultrasound also demonstrated evidence of an abnormally invasive placenta with the appearance of dysplastic vascular hypertrophy. An obstetric MRI was performed which supported the diagnosis of morbidly adherent placenta. This showed a low lying inhomogeneous placenta, dysplastic vascular hypertrophy, ill-defined placental bands, and an overall impression of some areas of increta with no overt evidence of percreta.\nOptions were discussed with the patient who decided for conservative management in order to optimise her chance of preserving her fertility. This was balanced against potential complications of prolonged conservative management of an IUFD, including sepsis and coagulopathy. A plan was made for serial ultrasounds as an outpatient, to be followed by induction of labour when placental blood flow was no longer detectable. Twenty-seven days following IUFD confirmation, the patient was admitted to hospital with abdominal cramping and associated small antepartum haemorrhage (APH).\nUltrasound scan at 31 days showed a minimal reduction in blood flow through the anterior placenta and to the cervix. At day 33 she suffered a further 300mL APH. Given her increasing blood loss and minimal changes to placental blood flow on ultrasound, she was administered a dose of 80mg methotrexate intramuscularly with the hope of accelerating devitalisation of the placenta. A repeat dose of methotrexate was planned for five days' time. During the subsequent two days after the administration of methotrexate, the patient continued to suffer moderate bleeds and increasingly significant contractions. 35 days following IUFD she spontaneously delivered a male fetus with only minimal bleeding during delivery.\nA brisk 2 L postpartum haemorrhage (PPH) followed delivery and the patient was immediately taken to the operating theatre for examination under anaesthesia and attempted manual removal. A urinary indwelling catheter was inserted and remained in situ for the entirety of the operation. Due to only partial removal (approximately 80%) of the placenta being achieved manually, the case quickly progressed to laparotomy. Intraoperative findings revealed a full thickness increta at the previous caesarean incision just above the level of the bladder. Hysterotomy was performed with a transverse incision made above the prior caesarean incision, and the remaining placenta was removed manually, creating a 3x3cm plug-like defect anteriorly. This defect was closed with a primary closure separate to the hysterotomy incision. In addition, the placental bed was oversewn to establish haemostasis. A Foley's catheter was inserted vaginally and inflated with 60mL normal saline. Total blood loss was 4 litres (L): 2L immediately postpartum, 1L while attempting per vaginal manual removal of the placenta, and 1L intraoperatively. Massive transfusion protocol was activated with the patient receiving 10 units of packed red cells, 6 units of fresh frozen plasma and 5 units of cryoprecipitate. The patient remained stable throughout the process. A further 3 units of packed cells was given over the next two days for persistent anaemia. The fetus was found to weigh 170g. No cause for foetal demise was identified and the family decided against an autopsy. Pathological examination of the placenta was performed. This was noted to be difficult due to extensive haemorrhage and areas of necrosis commensurate with intrauterine foetal death and prolonged intrauterine retention. There was no evidence of funisitis or umbilical cord vasculitis to support a diagnosis of chorioamnionitis nor were any pathogens observed. The degree of decidual haemorrhage and necrosis made a histological diagnosis of placenta accreta impossible.\nThe patient recovered without significant complication over the following days and was discharged 1 week later on oral antibiotics and aperients. Six weeks after discharge the patient was seen in a postnatal follow-up clinic. She experienced minimal lochia in the postpartum period and was feeling generally well.
The patient is 50-year-old Caucasian female with a history of hypertrophic cardiomyopathy. She presented with complaints of worsening shortness of breath, dyspnea on exertion, and near syncope. Her other medical history includes hypertension, gastroesophageal reflux disease, and asthma. Preoperative TEE revealed subaortic stenosis with a peak gradient of 42 mmHg and septal hypertrophy. Cardiac catheterization revealed normal coronary arteries with an ejection fraction of 60%.\nShe was offered alcohol septal ablation but elected to receive extensive transaortic septal myectomy with two bypass runs, and TEE showed no septal defect, peak gradient across the left ventricular outflow tract at 3 mmHg in the operating room. The patient later became progressively hypotensive requiring vasopressor support and remained hypoxic in the intensive care unit (ICU). Bedside TEE showed a new VSD about 14 mm in size with left to right shunt and lay behind the septal leaflet of the tricuspid valve []. The patient was taken back to the operating room emergently. The delayed presentation of VSD was unclear and might be related to damage to the perforator artery of the septum and continued myocardial infarction led to the creation of VSD. Bovine pericardium patch repair was attempted to fix this defect surgically unsuccessfully after multiple cardiopulmonary bypass runs. Extracorporeal membrane oxygenation (ECMO) was initiated, and the patient was transferred to ICU in a critical condition.\nInterventional cardiology was consulted for the possible transcatheter closure of the defect, and the patient was taken to the cardiac catheterization laboratory. Amplatzer muscular 14 mm VSD closure system was attempted through the right femoral vein without success utilizing a purely transcatheter technique. The following deployment of the RV disc, tugging on the device resulted in dislodgement of the device, indicating most likely a tear of the pericardial patch. Due to the paucity of surgical options available, it was determined that a hybrid approach with direct visualization of the VSD and transcatheter closure would be tried.\nIn the operating room, a right atriotomy was created to expose the VSD by the surgeon without removing tricuspid leaflets. Because of the large defect size, the much larger Amplatzer atrial septal defect closure device was attempted. Initially, a 14 F sheath with a 24 mm AMPLATZER® atrial septal occluder was inserted through the right atriotomy across the VSD under TEE guidance. On deployment of the left and RV discs, the delivery cable was left attached to the system while the surgeon closed the right atriotomy. TEE revealed severe mitral regurgitation due to impingement on the anterior leaflet of the mitral valve from the left ventricular disc [Figures and ]. This device was retrieved and a smaller 18 mm AMPLATZER® atrial septal occluder was deployed. The right atrium was again closed over the cable so that we could visualize the device within the filled heart. TEE revealed good placement of the closure device with neither perturbation of the anterior mitral leaflet and nor the aortic valve in two-dimensional and three-dimensional (3D) [Figures , and ]. The delivery cable was released from the device and TEE revealed only trace basal inferior communication left []. The ECMO was turned off temporarily during TEE evaluations to detect any shunts or regurgitations by color Doppler. Unfortunately, she still required full ECMO support for a prolonged period of time in the ICU. The family decided to withdraw care, and she died on postoperative day 14.
A 49-year old Caucasian male with no significant medical history and no prior complaints of chest pain (smoking was his only known cardiovascular risk factor) was referred to our cardiac emergency department with acute chest pain during exertion. The ambulance ECG showed extreme ST-segment elevation anterolateral (‘tombstone elevations’), which had resolved completely at arrival in the hospital (Figs. and ).\nIn the hospital the patient immediately went to the catheterization laboratory for an emergency coronary angiography, which showed no significant lesions. At the bifurcation between LMCA and LAD wall irregularities were visible, possibly indicating either a small dissection or a passed thrombus (Fig. ). Dual antiplatelet therapy was continued afterwards. During the next two days the patient did not have any complaints and no arrhythmias occurred. Ultrasonography showed no regional wall motion abnormalities, LV ejection fraction of 50% and no significant valvular disease. Patient received dual antiplatelet therapy, statins and ACE-inhibition. A beta blocker was also started, but had to be stopped due to symptomatic bradycardia. The patient was discharged 3 days after presentation. The out-patient follow-up visit was scheduled within 2 weeks after discharge. Unfortunately after discharge the patient resumed his smoking habits and refused to take any medication.\nTwo days later the patient presented at the emergency department after reanimation because of collapse due to ventricular fibrillation. Time of delay from onset until arrival of the ambulance was approximately 8 min. The ambulance ECG once again showed marked ST-elevations, which had resolved completely at hospital arrival. At arrival patient also had complete recovery of spontaneous circulation. An emergency coronary angiography was performed, which showed no changes compared to several days earlier and no clear cause of the VF. At first a conservative approach was chosen and the patient was admitted to the ICU. Intracoronary imaging (IVUS) of the LMCA was postponed awaiting neurological recovery.\nAfter arriving at the ICU, the patient developed ventricular arrhythmias with loss of cardiac output. Attempts to restore output were not successful, which eventually led to implantation of veno-arterial extra corporal life support (ECLS). Repeated ultrasonography after placement of the ECLS showed worsening of the systolic LV-function (EF 10%), with only some wall movement in the RCA-fueled area. This was attributed to stunning post-reanimation and ECLS-implantation. During the next several days the systolic LV-function gradually improved to a point where the ECLS could be removed. In an attempt to prevent further ventricular arrhythmias and possible spasm, PCI of the angiographically not significant lesion of the LMCA was performed. Unfortunately, no neurological recovery occurred and the patient died 1 month later. The permission to perform an autopsy was granted (Table ).\nThe fore mentioned case left us wondering: what caused this man without any significant angiographic coronary lesions to present with such dramatic clinical consequences? Did we miss a significant lesion, did he have coronary spasms or is there another explanation?\nMacroscopically the coronary arteries were open and showed no significant sclerotic lesions. The stent placed in the LMCA seemed to be open as well. On the Lactate dehydrogenase macroreaction (LDH) the entire left ventricle wall showed discoloration, with exception of the posterior wall. This finding indicates scarring and atrophy of the septum, anterior and lateral wall, indicating a massive myocardial infarction after occlusion of the LMCA. As the stent was not occluded the infarction probably occurred beforehand and was most likely the cause of the ventricular fibrillation at presentation.\nMicroscopical examination of the heart showed extensive transmural infarction throughout the entire left ventricle, with avital cardiomyocytes, macrophages, siderophages, and fibroblast proliferation as a sign of starting fibrosis (Fig. ). These findings are in agreement with a myocardial infarction which occurred several weeks ago (due to ischemia either during reanimation or before). The right ventricle only showed some focal ischemic changes with zones of vital myocardium. Detailed examination of the LMCA in the stented region showed a stable atheromatous plaque with 30–40% occlusion of the coronary artery and indentations in the wall, attributable to the stent (Fig. ). The other coronary arteries, aorta and carotid arteries only showed minor atherosclerotic changes without significant occlusions.
A 79-year-old Caucasian male, with a past medical history of atrial fibrillation on warfarin and metoprolol, and coronary artery disease on atorvastatin with previous coronary artery bypass grafting and placement of a dual-function pacemaker/ implantable cardioverter defibrillator (ICD), was on a motor boat in a remote location. The patient’s boat went over a wake of a larger boat passing by. He bounced off his seat in a vertical direction and subsequently landed on his tailbone. After the high impact fall, he complained of both immediate lower back and diffuse abdominal pain but did not seek out urgent medical help.\nTwo days after the initial incident, he started to become pale and diaphoretic; additionally, his ICD delivered three shocks over a 30-min period. He presented via ambulance service to a local community hospital in hemorrhagic shock with a blood pressure of 63/22 and heart rate of 118 beats/min. A primary survey was pertinently positive for hemodynamic instability and diffuse abdominal and lower thoracic spine tenderness.\nHe was resuscitated with 1 L of normal saline leading to an improvement of his pressure to 106/88. Initial laboratory investigations included a hemoglobin of 95 g/L, lactate of 6.1 mmol/L, creatinine of 129, and a supratherapeutic INR of 8.8. An initial non-contrast CT abdomen and pelvis showed moderate hemoperitoneum with sentinel clot in the left upper quadrant and pericolic gutter, as well as the area adjacent to the posterior wall of the stomach. An additional finding of a severely comminuted, minimally displaced burst fracture of the T10 vertebral body was noted (). Further interventions included INR reversal with 3 mg of Vitamin K and 3000 units of prothrombin complex concentrate, and administration of 2 units of packed red blood cells and 2 L of normal saline. Based on clinical severity, the patient was transferred to the trauma service at a tertiary-care Level 1 trauma center.\nPrimary survey revealed a protected airway, spontaneous and bilateral air entry, and hemodynamic stability with a blood pressure of 100/60 and a heart rate of 88 beats/min. His abdomen continued to be mildly distended and tender without peritoneal signs, however the patient reported it had improved since his original presentation to the local hospital. Repeat laboratory investigations revealed a stable hemoglobin of 94 g/L, and correction of his INR to 1.2. Given his stable condition, he underwent a CT RIPIT (Rapid Imaging Protocol in Trauma) [] and CT angiogram (CTA) of the abdomen and pelvis. His imaging revealed pseudoaneurysms of the left gastric artery measuring up to 6 mm with another 9 mm rounded area of increased attenuation along the lesser curve of the stomach (, ). No extravasation was seen. Decision was made to monitor the patient closely with serial abdominal exams and repeat imaging in 72 h, or sooner if the patient exhibited any signs of deterioration.\nOver the next 72 h, the patient’s vital signs and abdominal exams, improved and his hematological profile remained stable. Given the patient’s CHADS score of 2, it was decided to hold therapeutic anticoagulation until the patient’s bleeding risk decreased, however deep venous thrombosis prophylaxis was initiated. A repeat CTA was performed to follow the evolution of the two pseudoaneurysms. The imaging study revealed unchanged pseudoaneurysms but noted the distal aspect of the left gastric artery was attenuated in keeping with a focal dissection and intramural thrombus. Secondary to the dissection, the patient was started on 81 mg of aspirin daily. Over the next few days the patient continued to improve clinically, and was discharged home. The patient lived outside of the local area, and arrangements for close follow up were made.
In January 2016, a 72-year-old man with no notable medical history presented at our emergency center for tropical diseases a few days after returning from a 2-week vacation in Cuba. He described skin lesions without pruritus, fever and diffuse myalgia. Clinical examination revealed a diffuse papular rash on his arms, legs and trunk (Fig. A) and two ulcerated lesions on the oropharynx. Considering his recent travel and no sexual risk history, the most likely diagnosis was a tropical infection. Considering the current polemic and excitement, Zika infection was considered as a likely hypothesis. The patient was screened for Zika, dengue and rickettsiosis and put on a 10-day course of empiric antibiotic treatment with doxycycline. The skin rash disappeared completely within 2 weeks, but the laboratory results did not confirm the hypothetic diagnosis.\nIn March 2016, he presented to the ophthalmic emergency department with a rapidly evolving, painless, bilateral loss of vision. Within a few days, his visual acuity dropped down to 0.1 in the right eye and 0.05 in the left eye. without any other accompanying symptoms (no ocular pain, neurological symptoms, headache or scalp tenderness, jaw claudication, fever, proximal myalgia, arthralgia or fatigue). He reported not having been exposed to any toxins, drugs or vaccines in the weeks preceding the loss of vision. Fundoscopic examination revealed bilateral papillary edema with thunder hemorrhages in the right eye (Fig. B). Goldmann’s visual fields showed an altitudinal superior deficit in the right eye and a large central scotoma in the left eye with a small preserved inferior temporal area. He was hospitalized and immediately started on high doses of corticosteroids and aspirin. Fluorescein angiography of the retina excluded arterial leakage or obstruction. Orbital magnetic resonance imaging (MRI) revealed an increase of the signal of the right optic nerve and the appearance of a hypersignal on the left on the STIR sequence, associated with an increase in the spiculous and irregular contrast intake of the intraconical fat around the sheaths of the optic nerves. This aspect confirmed the clinical suspicion of optic neuritis (Fig. C, D).\nConsidering the large differential diagnosis of optic neuritis, multiple tests were performed. Blood cultures showed no leukocytosis or raised C-reactive protein or erythrocyte sedimentation rates. Vitamins B1, B6 and folic acid were normal. B12 was found to be decreased at 133 pmol/L, which was not sufficient to explain the clinical picture. Infective causes of optic neuritis, such as human cytomegalovirus, varicella zoster virus, herpes simplex virus type-1, toxoplasmosis, Lyme disease, cat scratch disease, syphilis, Epstein–Barr virus and tuberculosis were all excluded either by serology or by cerebrospinal fluid polymerase chain reaction. Autoimmune disorders were also investigated and excluded by measuring autoimmune markers, such as antinuclear antibodies, antinucleoproteins, antiphospholipids, antineutrophil cytoplasmic antibodies, human leukocyte antigen-B51, cryoglobulin and antiaquaporin anti-bodies and anti MOG anti-bodies.\nFinally, an HIV infection with a viral load of 1.9E5 copies/mL in the serum and 4.8E3 in the cerebrospinal fluid was diagnosed. The CD4 count was 656 per mm3. A stored serum from 3 months previously was analyzed retrospectively and showed an HIV viral load of more than 106 copies/mL with a negative western blot. Based on these findings, the diagnosis of an acute retroviral syndrome was retained and antiretroviral (ARV) treatment with dolutegravir (Tivicay®, GlaxoSmithKline), tenofovir and emtricitabine (Truvada®, Gilead Sciences) was started a few days after presentation. Although HIV-RNA was rapidly undetectable with a CD4 cell count above 700 cells/mm3, the patient’s visual acuity did not improve. Five months after ARV treatment initiation and corticosteroid therapy, his visual acuity was 0.05 on the right and 0.02 on the left eye, respectively. Fundoscopic examination showed a marked atrophy of the optic disc. Optic coherence tomography showed a marked loss of retinal nerve fiber thickness throughout the entire optic disc, confirming the marked loss of retinal nerve fiber layer ganglions. The case is summarized in Fig. .
The patient is a 50 year old male who received a LURT 8 years prior to presentation. He had previously undergone bilateral native nephrectomies 2 months prior to transplant for PKD. His early course was complicated by biopsy-proven acute cellular rejection, vascular type, 5 days after transplant, which was effectively treated with anti-thymocyte globulin and intravenous immunoglobulin. He subsequently went on to enjoy excellent graft function. Initially, he was maintained on standard triple immunosuppression with tacrolimus, mycophenolate mofetil (MMF) and prednisone.\nTwo years prior to presentation, he developed numerous squamous cell carcinomas of the skin treated with resection and radiation. One of these lesions was an invasive poorly differentiated SCC (Bowen’s type) of the left auricle, requiring auriculectomy and reconstruction. Tumor margins were negative. His immunosuppression was reduced by stopping his MMF.\nOne year prior to presentation he developed a parotid mass found to be SCC by fine needle aspiration. It was felt that this was a metastatic lesion from the auricular tumor. At this time, he was switched from a dual immunosuppressive regimen of tacrolimus and prednisone to sirolimus (SRL) and prednisone. He underwent a left parotidectomy and neck dissection with pathology showing invasive keratinizing squamous cell carcinoma, poorly differentiated. The tumor was 4.6 cm with lymphovascular and perineural invasion. Surgical margins were negative, but 5 out of 23 periparotid and cervical LNs were positive for metastasis with focal extranodal extension. He underwent radiation therapy and cetuximab. A surveillance PET CT performed 6 months after treatment revealed 5 bilateral pulmonary nodules, which grew over 2 months from 6 mm to 10 mm. He initiated systemic treatment with carboplatin, paclitaxel and cetuximab with minor improvement initially, followed by disease progression in the lungs and mediastinum after 7 months of treatment. He was then treated with gemcitabine, and imaging after 2 months of therapy revealed tumor growth.\nA complex discussion was then held regarding symptom-focused palliative care or consideration of novel therapies. Next-generation tumor sequencing was performed on his lung biopsy specimen. Although no clear primary tumor driver was found, 16 genetic abnormalities of possible oncogenic effect were demonstrated, including an EGFR amplification event and a ROS1 mutation of uncertain significance. He enrolled in a clinical trial of the ROS1 inhibitor, entrectinib, but had clinical and radiographic progression within 6 weeks. Other clinical trial options were limited by his history of solid organ transplantation.\nWith his young age and active lifestyle, the patient opted to proceed with nivolumab 3 mg per kg therapy, understanding the high risk of alloimmune kidney transplant rejection. In preparation, sirolimus was tapered off and prednisone was tapered to 5 mg daily, after which his allograft function remained stable with a creatinine of 1.4 mg/dL. His sirolimus level prior to discontinuation was 6.9 ng/mL.\nThirteen days after receiving the first dose of nivolumab, he presented with low-grade fevers, oliguria and fluid retention. The physical exam demonstrated an enlarged and tender renal allograft and significant lower extremity and peri-orbital edema. Laboratory testing revealed marked acute kidney injury with a creatinine of 4.4 mg/dL. His sirolimus level was noted to be 1 ng/mL and he was treated empirically for acute rejection with a 3 day methylprednisone pulse but without improvement. A renal biopsy was deferred, as he was not a candidate for T-cell depleting therapy with his active malignancy and hemodialysis was initiated for volume overload and electrolyte disturbances. Given the life-threatening nature of his metastatic SCC, the graft was sacrificed and he continued on nivolumab therapy every 2 weeks. Imaging after 4 weeks demonstrated a partial regression in tumor burden and lymphadenopathy. For continued fevers, hematuria and marked allograft pain, an allograft nephrectomy was performed 2 months after stopping his immunosuppression. Histologic evaluation revealed hemorrhagic infarction with features of acute and chronic vascular rejection (Fig. ).\nNow, he continues treatment with nivolumab and most recent imaging 18 months after treatment initiation shows stable tumor regression. He has been maintained on hemodialysis, but has been able to travel and return to an active lifestyle.
In April 2016, a 44-year-old premenopausal woman was admitted to the Breast Surgery Department, the Second Hospital of Dalian Medical University, with a 12-month history of a huge lump in the right breast. Initially, the patient just had a small fist-sized lump in the right breast, without any pain or discomfort. It grew so slowly that she did not pay much attention on it. Then, the lump started to grow rapidly and became very large within 2 months, and her right breast was entirely covered with a 8-inch ball-sized mass. The breast skin appeared dark and had ulceration.\nThe patient had undergone breast lump resection twice in 2001 and 2008, and both pathological diagnoses were benign PT. The patient had no history of cardiovascular or respiratory disease. Moreover, she had no family history of breast cancer.\nPhysical examination revealed that the left breast was normal, without any palpable lump. The right breast was obviously large, nearly 25×25 cm in size, with a circumference of nearly 80 cm. The skin on the surface of the lump was dark, with ulceration area of 7×5 cm and without bleeding or discharge (). On palpation, the size of the lump was 18×20 cm, hard with local tenderness and poor mobility. Axillary lymph nodes were not palpable. Mammography showed a huge right breast, about 23×23 cm, with dermal ulceration around nipple (). Ultrasonoscopy showed the right mammary gland that was enlarged obviously, with inset showing echo intensity disorder and blood flow signal probed (). Several hypoechoic focuses were seen on the area of right axilla, of which the largest was 1.5×0.9 cm in size. The left breast and axilla had no abnormal signal. Biochemical examination revealed no significant abnormalities. The chest computed tomography (CT) revealed that the lump had not broken into the chest cavity, and the lungs were normal (). The patient’s other relevant examinations such as the abdomen CT, the brain CT, and the bone ECT were also normal.\nNeedle core biopsy of the breast lump was suggestive of PT of the borderline subgroup. Then, the patient underwent mastectomy of the right breast () and sentinel lymph node biopsy. During surgery, surgeons detected that the pectoralis major was invaded, and so the partial muscle adhered to the tumor was resected. The intraoperative frozen section showed no metastatic cancer cell in sentinel lymph nodes. Finally, the latissimus dorsi muscle flap was graft to remedy for the tissular defect on the chest. Postoperative treatment was uneventful, and she was discharged after 6 days.\nThe cut surface demonstrated a leaf-like pattern. The scope of dermatic ulceration or necrosis was 13×10 cm. Postoperative paraffin-based histopathology showed fast cellular proliferation, mitosis about 9/10 high-power fields (HPFs) (). The tumor did not invade the skin. Immunohistochemistry (IHC) was as follows: spindle cells AE1/AE3, smooth muscle actin (SMA) (+), Desmin (−), CD34 partial (+), BCL-2 (−), p53 partial (+), ki-67 15%, tumor cells, estrogen receptor (ER) <1% weakly positive, progesterone receptor (PR) <1% weakly positive, and Ki67 40% ().\nThe patient had recovered well after the surgery until March 2017. The patient came to our hospital again because of a local recurrence. Her palpation and imaging examinations indicated three large masses on the right chest, the largest one of about 6.7×4.0 cm (). Then, she had lumpectomy, and the tumor was diagnosed as malignant PT (). After the second surgery, we followed up her by telephone, and knew that she had underwent radiotherapy and chemotherapy. Up until now (February 2018), she is still alive and undergoing chemotherapy.
A 24-year-old Caucasian man presented with a several month history of muscle pain, fatigue and insidious onset of pitting edema to his lower extremities. His symptoms progressed to include bilateral arm swelling, muscle pain to the thenar eminence of both hands, and paresthesias to his hands. He did not have a rash, joint pain, Raynaud phenomenon, oral ulcers, fever, hardening of the skin or weight loss, and he denied any cardiac, respiratory, genitourinary, or gastrointestinal symptoms. Prior to symptom onset, he had traveled to South America and reported possible ingestion of undercooked meat as well as swimming in a river and lake. He had frequent visits to the Northeastern United States and had recently spent an extended period of time outdoors in Rhode Island. Medical, surgical, and family histories were unremarkable, and he was not taking any medications. He had a history of mild alcohol intake, no history of smoking, and some marijuana use. On examination, his vital signs revealed a blood pressure of 104/57 mm Hg, pulse of 56 bpm, and normal temperature. He had no significant findings on head, neck, cardiovascular, respiratory, or abdominal exam. He had no cervical, axillary, or inguinal lymphadenopathy. He had significant pitting edema on his feet and legs extending up to his knees as well as non-pitting edema on the dorsum of both hands. Although there was edema, the skin was soft without any significant hardening and was without any overlying erythema. There were no signs of skin dimpling or grooves. His neurological examination revealed normal strength.\nHis initial laboratory work was significant for a mild eosinophilia of 700 with a normal white blood cell count, hemoglobin, and platelets. He had normal calcium, creatinine, and electrolyte levels. His alanine aminotransferase was slightly elevated and total protein slightly low, but he had normal albumin and bilirubin. His thyroid-stimulating hormone was slightly increased, but his free T4 and total T3 were normal. His urinalysis was normal. He had a normal level of creatine phosphokinase, sedimentation rate, and C-reactive protein. Further workup revealed a positive anti-nuclear antibody with a titer of 1:160 with a speckled pattern. His extractable nuclear antigen panel was negative, including Scl-70. His ANCA, myeloperoxidase and proteinase-3 serum studies were also negative. His ACE level and complement levels were normal. Infectious workup revealed negative stool studies for culture, ova, and parasites. Antibodies for HIV, CMV, and Trichinella were negative. Serum for histoplasmosis, cryptosporidium, coccidiomycosis, and interferon gamma release assay were negative. A blood smear for parasites was negative. An ELISA IgG/IgM test for Lyme disease was positive with subsequent testing with Western blot strongly positive for IgG (eight out of ten bands positive) and also positive for IgM (two out of three bands positive).\nThe patient had extensive imaging done with a normal CT scan of his neck, chest, abdomen, and pelvis. An echocardiogram was also normal. Due to a previous negative workup along with persistent pain and swelling, an MRI of his right lower extremity was performed (see Figure ). Imaging demonstrated extensive circumferential edema with enhancement of the superficial soft tissues, superficial fascia, and, to a lesser extent, deep fascia of the lower leg. Taking into account the mild peripheral eosinophilia and the imaging findings, a diagnosis of eosinophilic fasciitis was considered. To complete the workup, a biopsy of the fascia, muscle, and adipose tissue of the left calf was taken (see Figure ). The biopsy did not include the dermis. Surprisingly, there was no evidence of eosinophilic fasciitis. Instead, the specimen illustrated a striking granulomatous fasciitis and vasculitis. The fascia showed exuberant granulomatous inflammation (Figure A) with an inflammatory infiltrate that was made up predominately of histiocytes and CD3-positive T cells with very rare eosinophils (Figure B). The granulomatous inflammation centered primarily on small- to medium-sized blood vessels and was non-necrotizing. While the vessels did not display overt fibrinoid necrosis, they did appear damaged with loss of endothelial cells confirmed with CD31 immunostaining. The inflammatory infiltrate was seen extending into adipose tissue and particularly around blood vessels within the fat. The adjacent skeletal muscle also showed perivascular inflammation and vasculitis in both the perimysial and endomysial compartments. There was no endomysial fibrosis, fatty infiltration, or inflammation surrounding muscle fibers. AFB (acid-fast bacteria) and Wade-Fite stain were negative for mycobacterial organisms. GMS (Grocott-Gomori's methenamine silver) stain was negative for fungal organisms. Due to the positive Western blot for Lyme, a Warthin-Starry silver nitrate stain was performed to evaluate for spirochetes; however, no definitive organisms were seen. A Borrelia PCR analysis of the tissue was performed as well, but no DNA was detected.\nThe patient was given a diagnosis of granulomatous fasciitis along with a diagnosis of Lyme disease. He was first treated with doxycycline for 42 days straight due to initial Lyme serology being positive. The calf biopsy revealing fasciitis was not performed until the patient was 3 weeks into the doxycycline course. Once fasciitis was diagnosed, he was started on a prednisone taper starting at 1 mg/kg/day for a week with taper by 10 mg every 2 weeks. After 2 months of treatment with prednisone, the patient had near resolution of symptoms. A repeat MRI was performed 82 days after the initial MRI with the previously seen changes consistent with fasciitis nearly completely resolved with only a thin sliver of edema over the superficial fascia. On re-evaluation of the patient, he reported skin changes to his left upper arm at 20 mg of prednisone per day and skin changes to his left forearm at 7.5 mg per day. Examination of the upper arm revealed an atrophic patch with some overlying erythema and examination of the forearm showed indurated, bound-down, tense skin with a slight groove and minimal overlying hyperpigmentation. The rest of the dermatological examination was within normal limits. Skin biopsy revealed marked septal thickening with sclerosis, sparse lymphoplasmacytic infiltrate along the dermal subcutaneous junction, and swollen, homogenized collagen fibers with diminished spaces between the fibers (see Figure ). The clinical examination along with pathology revealing dermal and subcutaneous sclerosis was consistent with a diagnosis morphea profunda. Lyme serology was repeated, but Western blot for IgG was negative. A scleroderma antibody panel was negative as well. He was started on methotrexate and a higher dose of prednisone.
A 52-year-old male patient presented to the emergency room of a local hospital due to sudden weakness in both lower limbs. The patient was taking medications for hypertension and had a 60 pack-year smoking history, but reported that he had no history of diabetes, hyperlipidemia or cardiac disease. He described that he had an electrifying feeling in the dorsal spine at dinner and then 5 minutes later, he experienced weakness in both lower limbs. According to his medical record presented to the hospital, he had no abnormalities of consciousness and cognition, and no manifestations such as fever suggesting systemic infection or inflammation. The muscle strength using the Medical Research Council Scale was grade 5/5 in both upper limbs and 0/0 in both lower limbs, and numbness was observed below the T7 dermatome. Magnetic resonance imaging (MRI) (sagittal image of whole spine and axial image of cervical spine) and cervical computed tomography (CT) which were performed 3 hours after the onset of symptoms showed that the C6-C7 intervertebral disc was compressing the cervical spinal cord on the right central side (). Discectomy of the C6-C7 intervertebral disc and anterior interbody fusion of the C6-C7 vertebrae were performed as emergency care. The patient was transferred to the Department of Rehabilitation in our hospital for active rehabilitation treatment 1 month after the onset of the symptoms, with no clear postoperative functional improvement in the lower limbs. At the time of transfer to our hospital, muscle strength grade was 1/1 for hip flexion, 1/1 for knee extension, 1/2 for ankle dorsiflexion, 2/2 for ankle plantar flexion, and 1/1 for extensor hallucis longus muscle without spasticity. Sensory tests showed that pain and temperature senses were decreased, although touch, vibration, and position senses were normal in the T8-T12 dermatomes, and all senses were normal in the other dermatomes including the anal region. Deep tendon reflex was normal in both upper limbs but was absent in both lower limbs. Babinski's sign and ankle clonus were absent. The anal sphincter was relaxed and voluntary anal contraction could not be implemented. Placement of a Foley catheter inserted through the urethra before the surgery was maintained for voiding. The patient's neurologic level of injury was T7 and the American Spinal Injury Association Impairment Scale was Grade C. This was inconsistent with the general symptoms of cervical myelopathy caused by C6-7 herniated intervertebral disc.\nOn the day of transfer to our hospital, the patient had a fever and an abdominal CT was performed to identify the cause of the fever. The abdominal CT showed prostatitis and a thoracoabdominal descending aortic aneurysm of 4.1 cm in diameter. Approximately 50% of the inner diameter of the aneurysm was found to be filled with thrombus (). The results of electrocardiography and immunology tests including a venereal disease research laboratory test were normal. Blood lipid tests showed that total cholesterol and low density lipoprotein (LDL) levels were normal (149 mg/dl and 91 mg/dl, respectively), high density lipoprotein (HDL) level decreased to 22 mg/dl, and triglyceride (TG) level increased to 186 mg/dl. Antibiotics were administered for prostatitis, which was suspected as a cause of the fever, and a suprapubic cystostomy was performed. In addition, after consultation with the department of internal medicine, aspirin and atorvastatin calcium were administered for thrombus of thoracoabdominal aortic aneurysm and dyslipidemia.\nAn electrophysiologic study was performed 5 weeks after the onset of the symptoms. Although the findings of a sensory nerve conduction study on both superficial peroneal and sural nerves were within normal ranges, the findings of a motor nerve conduction study on both peroneal and posterior tibial nerves showed that the amplitude of compound muscle action potential was either decreased or no compound muscle action potential was elicited (). Needle electromyography showed abnormal spontaneous activities in all the myotomes from the L2 to S1 on both sides. Also, no motor unit action potential was observed, or recruitment was found to have decreased (). The results of a somatosensory evoked potential test on the median and posterior tibial nerves were normal on both sides. Based on clinical findings from the electrophysiologic study, thoracolumbar MRI was performed to detect any thoracolumbar lesion that could indicate the impairment of lower motor neurons. The sagittal T2-weighted image showed linear high signal intensity in the spinal cord from the T8 to the cauda equine level, and an axial T2-weighted image revealed 'snake eyes' appearance where the anterior horns of gray matter of spinal cord had high signal intensity ().\nBased on the patient's medical history, clinical symptoms, abdominal CT and thoracolumbar MRI findings, we considered that the cause of acute both lower limbs' paralysis was spinal cord infarction caused by thoracoabdominal aortic aneurysm with intraluminal thrombus. We decided to maintain the current drug and rehabilitation treatments as the spinal cord infarction had exceeded acute phase. At present, muscle strength in the patient's lower limbs has not markedly improved compared with that at his presentation to our hospital. The Foley catheter placed in suprapubic vesical fistula has been removed and the patient now voids by Crede maneuver.
A 77-year-old female presented to our department with exacerbation of ptosis and local recurrence of thymoma. Five years earlier, she had been diagnosed with an anterior mediastinal tumor with a symptom of ptosis and underwent thymectomy for type B2 thymoma of Masaoka stage II disease. Following the operation, her ptosis was well controlled with tacrolimus 3 mg/day, prednisolone 5 mg/day, and pyridostigmine 180 mg/day.\nWhen she underwent an operation for colon cancer, chest computed tomography as a preoperative examination revealed local recurrence of a nodule 1 cm in diameter on the innominate vein and a small nodule in the anterior mediastinum (Fig. ). We recommended radiotherapy for the recurrent lesions, but she wished to undergo observation for a while. She hoped to receive treatment for the exacerbation of ptosis.\nThe dose of tacrolimus was increased according to the trough value of the blood concentration, and her ptosis improved. The value of anti-acetylcholine receptor (AChR) antibody gradually decreased (71 to 10 nmol/L). Following 6 month observation, erythema on the extremities and body trunk suddenly appeared (Fig. ), which was diagnosed as drug eruption. The drugs for MG were thus reduced or interrupted. The patient developed progressive muscle weakness and fatigue and was admitted to the hospital.\nThe post-administration course and blood examination values are shown in Fig. . Aspartate aminotransferase (AST) and alanine aminotransferase (ALT) levels were significantly increased, and complication of drug-induced or autoimmune hepatitis was suspected. She slept in the sitting position, because her dyspnea worsened in the supine position. Her neck hung down without bulbar palsy symptoms. We once experienced a similar situation in an MG patient who died of myocarditis and polymyositis. She was transferred to the intensive-care unit (ICU) 5 days after admission and received artificial ventilation.\nA laboratory examination performed immediately before treatment revealed that the serum levels of creatinine phosphokinase (3098 U/L; normal range 45–163 U/L), creatine kinase isozyme MB (257 U/L; normal range 45–163 U/L), ALT (311 U/L; normal range 6–27 U/L) and AST (351 U/L; normal range 13–33 U/L) were elevated. In addition, cardiac troponin I was elevated to 679.6 pg/mL (normal range 0–26.2 pg/mL). Serum electrolyte and calcium values were normal. The electrocardiogram at admission to the ICU showed only a slightly prolonged QT time (0.392 s). The echocardiogram demonstrated a preserved left ventricular systolic function, with an ejection fraction (EF) of 63%. There were no findings of cardiac infarction. Although a myocardial biopsy could not be performed, we diagnosed as polymyositis and myocarditis which is rarely associated with thymoma. This diagnosis was valid considering the positive findings of anti-striational autoantibodies (anti-titin and anti-Kv1.4), elevation of myosin light chain I and luck of elevation of anti-AChR antibody, which were revealed later.\nThe clinical course is shown in Fig. . Steroid pulse therapy was induced immediately for polymyositis and myocarditis. As the cardiac function was maintained, catecholamine administration was not needed. The blood test findings were markedly improved, as shown in Table , but the symptoms of MG and weakness of the muscles persisted. Therefore, we performed tracheostomy and immunoadsorption plasmapheresis (IAPP).\nPancytopenia and hypogammaglobulinemia (Good's syndrome) were also found, and intravenous immunoglobulin therapy was performed. She was also diagnosed with cytomegalovirus infection, and ganciclovir was administered. Eculizumab was induced, and the symptoms of MG and weakness of the muscles were improved. On the 136th day of hospitalization, she was discharged. Since then, immune therapy with medicine has been continued, excluding eculizumab. There has been no recurrence of any of her autoimmune diseases, excluding MG, for 1 year.
A 29-year-old female was under follow up observation at a local clinic for a mass in her left breast palpated 6 months prior to admission. Mass size increased due to pregnancy and showed inflammatory findings. She was thus transferred to our hospital for surgical treatment. Gestational age on admission was 8 weeks. In her presurgical breast ultrasonography, in the area 4 cm from the ten o'clock direction of the left nipple an approximately 4 × 3 cm sized mass without any distinct boundaries thought to be an abscess was detected. In her past medical history, specific findings were denied and undetected. The mass was deeply located close to the fascia of the pectoralis muscle, thus difficult to operate by local anesthesia. Pretreatments were not given. In the operating room, it was decided that TPVB be performed because it would affect the fetus less than general anesthesia. The consent of the patient was obtained after through explanation of the anesthetic method. Basic monitoring equipments were attached to the patient. Initial blood pressure was 120/70 mmHg and pulse rate 82 beats per minute. Other specific findings were undetected. The patient took a sitting position with an assistant was positioned in front of her. She was asked to lower her head and lean against the chest of the assistant. After marking the C7 spinous process (SP) to the T1 SP with a skin marker, each mark of the T1 SP to the T5 SP was marked again horizontally 2.5 cm left of the initial mark. After marking the areas, her skin was prepared with povidone iodide solution and subsequently, 1.5 ml of 2% lidocaine was injected into each marked point subcutaneously. Afterwards, using five 20 gauge Tuohy needles, the skin of each point was pricked vertically. If the tip of the needle touched the transverse process, the needle was retreated and advanced by changing directions toward the head. The paravertebral space was assessed through a loss of resistance technique, and then the site was fixed. Each of the needles was installed in the marked site from the T1 SP to the T5 SP where a total of 20 ml of 0.5% ropiacaine, 4 ml each, was injected. The needles were then removed (). Sterile dressing was performed on all areas injected with the drug. The patient then took the supine position, and blood pressure and pulse rate were 100/55 mmHg and 100, respectively. Other specific findings were undetected and the patient did not portray any particular symptoms. The blockage range evaluated by an ice test of the area from T1 to T10. During surgery, the patient presented with severe anxiety and requested to be put asleep, and so propofol (Fresofol®, Fresenius Kabi, Austria), a pregnancy risk category B drug, was injected using a syringe pump (Pilote anesthesie IS, Fresenius vial S.A, France) at the rate of 90 µg/kg/min. Total anesthesia time was 60 minutes and the total operation time was 40 minutes. After surgery, she was transferred to a recovery room for 45 minutes in order to detect any pain or other special findings she might experience. After transferring to a ward, where she also did not experience any pain, further analgesics were not administered.\nIn the ultrasonography performed the day after surgery, fetal heart beat was 180 bpm, and gestational age measured by crown-to-rump length was 8 weeks +5 days. The patient was treated with cefotiam 1 g/day through intravenous infusion for 4 days and was discharged without any complications.
A 56-year-old female presented to the Emergency Department after a fall. The patient reported that she had been having a fever for the last 2 days and there was associated dizziness which led to the fall. There was no loss of consciousness or head injury secondary to the fall. She also reported a non-productive cough, several episodes of non-bilious, non-bloody vomiting, and two episodes of diarrhea.\nThe patient's past medical history was that of chronic ischemic heart disease; type two diabetes mellitus, hyperlipidemia and hypertension. She did not have any known drug allergies. She denied drinking alcohol, smoking or use of any illicit drugs. Her travel history including traveling to India three months ago. On physical examination she looked diaphoretic, lethargic and in pain, with a blood pressure of 125/95 mmHg, pulse rate of 127 beats per minute, respiratory rate of 20 per minute, oxygen saturation of 97% on room air and a temperature of 39.7°C. An abdominal examination revealed that she was tender in the right lower quadrant and right upper quadrant with no rebound tenderness or guarding, and Murphy's sign was negative. Examination of the other systems did not reveal any abnormalities.\nBased on the clinical history and examination the working diagnosis of pneumonia and possible acute appendicitis or diverticulitis was made. She was given intravenous normal saline fluid, intravenous antibiotics and analgesia. The electrocardiogram showed sinus tachycardia with nonspecific T wave inversion. The chest X-ray showed clear lungs fields and the heart size was normal. A renal panel, liver panel, full blood count, C-reactive protein, prolactin, and urine analysis were ordered. The patient had transaminitis, markedly raised inflammatory markers, and thrombocytopenia. The patient's lab results are shown in .\nPatient was sent for a computed tomography (CT) of the abdomen and pelvis with intravenous contrast to rule out appendicitis or diverticulitis. shows the CT findings for this patient. The results showed a linear radio dense foreign body within the hepatic segment, most likely a fishbone with the site of perforation possibly being the distal stomach. Surrounding the foreign body there is a well-defined hypodense region suggestive of a phlegmonous area of inflammation measuring 9.4 × 7.0 cm. No subcapsular hematoma, intra-abdominal free fluid or pneumoperitoneum was present.\nThe patient was then admitted to the general ward and was treated conservatively with intravenous antibiotics for 15 days. She was initially started on Ceftriaxone and Metronidazole and subsequently switched to Piperacillin/Tazobactam on Day 4 of illness. On day 10 of admission, the patient went for a repeat CT of the abdomen and pelvis and it was found that the abscess had significantly increased in size and a percutaneous catheter was inserted at this time. On day 18 the abscess was still the same size and the patient continued to spike fevers so the patient underwent open liver abscess drainage which showed a heterogeneous abscess in segment 4 extending to segment 8, but no liquid abscess was seen and no foreign body could be found. On day 27 a repeat CT of the abdomen and pelvis was done, because the patient was still spiking fevers, showing pockets of residual collection in right lobe of the liver with a foreign body still present and then a new percutaneous drain was placed. On day 29 the drain was removed because the drain output had dropped. An ultrasound was performed of the liver on day 34 and there was an ill-defined heterogenous hypoechoic area noted in the liver extending from segment 4 to 8. There was no new focal hepatic lesion. The repeat ultrasound on day 44 was done and the abscess cavity was now smaller and there was still a remnant foreign body.\nThe patient was successfully discharged asymptomatic on day 55. The patient remained well on follow up. She had repeat ultrasounds done at 1 month and 3 months post discharge which showed a heterogeneously hypoechoic area which had decreased in size but still had the fishbone present.
A 39-year-old woman, gravida 1, para 0, was diagnosed with invasive squamous cell carcinoma of the cervix following conization. Pathological findings showed carcinoma consistent with FIGO stage IA1 with lymphovascular invasion. She was referred to Keio University Hospital. The patient and her husband were informed of the treatment options, including AmRT and pelvic lymphadenectomy. The patient was told that the outcome of this procedure could not be guaranteed because an insufficient number of these procedures have been performed worldwide to yield reliable conclusions. The patient wished to preserve fertility, and she and her husband signed a written consent form agreeing to this treatment. Pathological findings after AmRT and pelvic lymphadenectomy showed no residual tumor and no lymph node metastasis. There was no finding of an ovarian tumor before surgery. A left ovarian cyst of 4 cm was identified during postoperative follow-up.\nAt 3 years and 6 months after surgery, the patient underwent IUI and then had fever and pain in her left lower abdomen 10 days later. At her first visit, her temperature was mildly elevated to 37.5°C. The patient's pregnancy was denied because a qualitative urine human chorionic gonadotropin (hCG) test was negative. A tumor with tenderness was palpated in the left adnexal area. A cystic tumor of 64x 41 mm was found by transvaginal ultrasonography (). Blood tests showed increases in white blood cell (WBC) count to 11900/μL and C-reactive protein (CRP) to 22.80 mg/dL. The patient was diagnosed with PID with ovarian cyst infection and hospitalized for treatment. Conservative treatment with antibiotics was initially used, but her symptoms did not improve. On hospital day 8, blood tests showed a further increase in WBC count to 23900/μL and CRP to 28.17 mg/dL, and pelvic CT showed that the ovarian cyst had grown to 10 cm in size ().\nWe decided to perform laparoscopic left ovarian cystectomy on day 8. Since the patient had a history of open surgery, adhesion was likely in the abdominal cavity. Before surgery, we asked the urologist to insert bilateral 6 Fr ureteral catheters because of possible difficulty identifying the ureters. The catheters were fixed to the thigh with tape (). The uterine manipulator was not inserted before surgery to avoid the risk of uterine perforation.\nCO2 pneumoperitoneum was established at 10 mmHg. Laparoscopic left ovarian cystectomy was performed using typical trocar placement. The left ovary was swollen to 10 cm and the fluid contents were purulent (). The left adnexa, posterior uterine wall, and retroperitoneum were firmly adhered (). The bilateral fallopian tubes were firmly adhered to the surrounding tissue and were unable to be identified. During surgery, by moving the catheter manually back and forth from outside the body, we were able to identify the ureters visually (). The 7 cm uterine manipulator was inserted during surgery under a laparoscopic view. The left ovarian cyst was excised, leaving the normal part of the ovary (). The operation time was 2 h and 58 min, and blood loss was 550 mL. No complications occurred during or after surgery. After the operation, symptoms improved rapidly and the patient was discharged 8 days after surgery. The excised specimen was pathologically an endometriotic cyst. A bacterial culture of the cyst fluid was positive for Prevotella bivia, Prevotella species, and Finegoldia magna.
A 54-year-old Caucasian female with a history of lupus presented for elective left total knee arthroplasty following the development of osteoarthritis that had failed conservative measures. The patient had a history of previous left knee ACL reconstruction approximately 25 years ago using the Arthrotek bone mulch screw and WasherLoc system []. She underwent removal of the tibial WasherLoc approximately 10 years later, in the early 2000's ().\nThe patient was positioned supine; standard incision with a medial parapatellar arthrotomy was performed. A measured resection technique was then performed with an intramedullary guide placed in the femur. The femur was cut in 6 degrees of valgus and 3 degrees of external rotation. A size 4 femoral prosthesis was placed and noted to overhang both medially and laterally on the condyles. At this time, it was decided to downsize the femoral component. The 4 in 1 femoral cutting block was then placed back on the femur and was noted to be in contact with the bone mulch ACL screw. The bone mulch screw was located and identified in the lateral femoral condyle; a curette was used to clear the head of the screw, and it was removed. The proximal tibia was then prepared using an intramedullary guide with 3 degrees of posterior slope. A size 3 tibial component and a 9 mm poly were placed; the knee was noted to be tight in both flexion and extension. An additional 2 mm resection was performed on the proximal tibia. It was noted at this time while trying to trial the prostheses that the lateral femoral condyle was fractured. Conversion to a stemmed femoral component with a cruciate stabilizing prosthesis was attempted. The femoral canal was reamed, and the femoral box cut was made. However, during trialing, the medial femoral condyle was now noted to have a fracture as well. An intraoperative consultation with an adult reconstruction trained orthopaedic surgeon was performed. Immediate surgical correction was not possible due to improper implants being presented. The femoral and tibial canals were then reamed to accept a 200 mm × 9 mm intramedullary nail to act as a temporary internal stabilization device (). The knee was irrigated and closed, and the patient was admitted to the floor. The patient was then brought back to the OR on postoperative day 3 following the index procedure. The prior incision was utilized; the wound was copiously irrigated. It was noted that due to the patient's poor bone quality and comminution of the fractures that the only viable option was a distal femoral replacement. The distal femur was resected, the femoral canal was reamed, and a planar was used on the distal femur. A skim cut and reaming of the tibia were performed. The components were trialed. Final implants included a 13 × 127 mm hinged femoral prosthesis and small 1-stemmed tibial tray; a 32 mm patellar component was used, and a size 10 polyethylene was then inserted; all components were cemented. The knee was noted to be stable throughout range of motion with good patellofemoral tracking. The surgical wound was copiously irrigated and closed (). Estimated blood loss was 100 mL; no postoperative transfusion was necessary. She was able to bear weight as tolerated immediately postoperatively. The patient's pain was controlled postoperatively, and she worked well with physical therapy and was discharged home with home health care on postoperative day two with 3 weeks of Coumadin for venous thromboembolism prophylaxis.\nThe first postoperative visit was at two weeks; the patient had some swelling and quadriceps weakness, and the incision was healing well. Range of motion (ROM) was from 0-100°. At 6 weeks, she was still requiring narcotic medication; quadriceps strength was improving, ROM from 0-105°.\nAt 12 weeks, X-rays remained unchanged; the patient continued to have mild quadriceps weakness and was no longer requiring narcotic medications. ROM was not documented at this visit. At 6 months, ROM was 0-120°. The incision was well healed; X-rays were unchanged. The patient was doing well; however, she continued to have some residual quadriceps weakness and difficulty ambulating long distances. The patient was lost to follow-up after 6 months.
A 23-year-old man (weight 65 kg, height 175 cm, and BSA 1.8 m2) with a diagnosis of primitive right atrial enlargement from foetal age was referred to our Centre for cardiological evaluation. Cardiac examination showed increased heart size on percussion and a grade II/VI Levine systolic murmur. No significant pathological findings were found on pulmonary examination. Electrocardiography showed a regular sinus rhythm with a rate of approximately 60 beats/min associated with an abnormal morphology and duration of P wave (enlargement of P wave with duration of 130 msec), together with a low amplitude of QRS complexes in the limb leads. All routine laboratory studies were within normal limits. Chest radiography showed an abnormal cardiac silhouette with increased convexity in the lower half of the right cardiac border and cardiomegaly ().\nTransthoracic two-dimensional echocardiography demonstrated a huge right atrium of about 6.2 cm and a volume of 230 ml/m2, with a thick smoke pattern and mild tricuspid regurgitation. The pulmonary arterial pressure was normal (). The tricuspid valve was normal without significant annular dilation. No stenosis or abnormal displacement of the tricuspid valve leaflets was detected. No significant regurgitation of the tricuspid valve was found despite a partial distortion of the anterior leaflet and compression of the right ventricle inflow. The right ventricle appeared small and compressed anteriorly by the right atrium (area of RV: 11 cm2).\nCardiac magnetic resonance imaging showed a marked right atriomegaly (right atrium area: 66.50 cm2, volume: 220 ml/m2) and normal size of the left atrium (left atrium area: 7.02 cm2). The right ventricle was regular in size and global contractility but was partially compressed and dislocated posteriorly, due to the massive enlargement of the right atrium. The left ventricle was regular in dimension, thickness of the wall, and global/segmental contractility (FE VS = 61%). No evident transvalvular jets or areas of late gadolinium enhancement were found. The pericardium was visualized without focal abnormalities or pericardial effusion ().\nDue to the high risk of arrhythmias and thrombus formation in the right atrium, which is a potential risk for pulmonary embolism, the patient underwent cardiac surgery. Through a median sternotomy, cardiopulmonary bypass was established with standard aorta and bicaval cannulation. After the pericardium was opened, the entire anterior surface of the heart was found to be covered with a thin wall in continuity with the right atrium. No atrial appendage as such was apparent. The right atrium was fully opened. The inferior border of the atriotomy was sewn around the anterior part of the tricuspid annulus, and the superior border was brought over the lateral wall of the right atrium as a flap and sewn near the interatrial groove. This provided adequate reduction of the atrial size and reinforcement of the atrial wall ().\nThe histology of the resected atrial wall showed focal hyperplasic areas of smooth muscle cells with polymorphic nuclei surrounded by a few scattered areas of hypertrophic fibrous tissue.\nPostoperative transesophageal echocardiogram showed a significant reduction of the right atrium area (23 cm2, volume: 93 ml).\nThe patient was extubated 11 hours after surgery. Complications arose postoperatively with the early appearance of pericardial effusion with leukocytosis and elevated inflammatory markers. This was resistant to conventional medical therapy, which in the end required surgical drainage. Medical therapy of the postpericardiotomy syndrome (ibuprofen 600 mg/TID and colchicine 1 mg/OD) was continued over the subsequent 6 follow-up months without further recurrence of pericardial effusion.
Anette is an 18-year-old girl who lives with her mother. Her parents are divorced; her mother has experienced depressive symptoms; her father suffered from alcohol and gambling addiction, and he harassed them regularly. He had a strong aptitude for suicide and made two suicide attempts. Anette did not have a good relationship with her father, saying “we were like strangers living under the same roof.” Her father accepted their shallow relationship, and it hurt her that her father did not want to bring about any change in their relationship.\nAnette was sent to us by her mother, who had taken part in a presentation about excessive mobile phone usage. She was cooperative all the time; she did not consider her excessive phone usage. She told us that she could give up her cell phone usage if she really wanted to, but in that case she would be abandoned by her friends and therefore she did not want to do so. During the conversations, she filled out the Beck Depressive Questionnaire, which indicated a mild depression. Currently, she is in her second year at a business trade school and is studying to become a salesclerk. She does not care about her schooling. Six years earlier, when she was 12, she received her first smartphone. At first, she rarely used it; however, as smartphone functions became more comprehensive, she spent more and more time with it. Currently, she uses her cell phone 6–7 hr per day. This usage is not continuous; however, she feels a gradually growing pressure to use her mobile phone approximately every 15 min. She manages everything with her smartphone and uses plenty of applications, for example, photo editor, music recognition, or public sites. Interestingly, she rarely makes phone calls, and the monthly fee that can be used for phone calls is not used up entirely for every month. Anette knows that she ought to use her smartphone less often; however, she rarely manages to do this. She is in the inchoative stage of problem admission. On a cognitive level, she has understood that she needs to use her cell phone less often; however, this idea has not yet turned into action. She feels that she always has to be available for her acquaintances, which is why she checks her cell phone continuously. If she finds herself without her cell phone, she borrows or steals one from one of her friends in her social group and uses it.\nCurrently, her relationships with her peers have become shallow; in her social life, she wants to have everybody’s attention and make friends. However, these friendships usually last for 2–3 weeks. She meets lots of boys, but her relationships with them are not long-lasting. She often chooses her smartphone over her peers, and when going out with them she often uses her smartphone there too. Her friends tolerate this behavior, and although she does not take part in most of the social interactions, she is not excluded. It has occurred that when she was on a holiday with her peers, she stayed in the apartment 50% of time and used her mobile phone while her peers were at the beach. On the other hand, in most of the cases, she stays in touch with her friends via phone and public sites. She added “If my smartphone is not turned on, I will feel that I will miss something, but if my smartphone is on, I also check it continuously.” After using the smartphone, she feels a short period of relaxation followed by a gradually growing distress, which can be reduced only by another session with the phone. The use of a cell phone is a negative reinforcement for her, and she said “it is not a satisfactory feeling, but it does not hurt, and I am not so often anxious.”\nDuring the therapy, which lasted approximately 2 years, the psychoanalytic approach and methods were used. Anette had difficulties dealing with her negative emotions; instead of facing them she denied, repressed, and projected them. This is why the focus of the therapy was to work with the defense mechanisms, to identify her emotions, and to provoke in her a need for relationships. Anette quit the therapy several times; however, she always decided to continue it after a short break. Leaving the therapy was a way for her to escape her negative emotions and to avoid reliving her original trauma. She left the therapy several months ago, saying “I want to discuss something with myself.”
We present a case of an 8-year-old boy with involuntary movements of his limbs and trunk. He had hypoxic encephalopathy because of cardiopulmonary arrest after choking on food at the age of 2. He lost consciousness for 18 min owing to the cardiopulmonary arrest and was treated with hypothermia and steroid pulse therapies at our hospital for 3 months. He was then transferred to another hospital to undergo rehabilitation and returned home after 5.5 months. He underwent outpatient rehabilitation at our hospital since the age of 6. Results of the auditory reception subtest of the Illinois Test of Psycholinguistic Abilities indicated that he had an intellectual level of 5 years and 8 months; that is, he was normal in intellectual level. Although he had severe dysarthria, he was able to communicate using gestures or a communication board. Magnetic resonance (MR) imaging of his brain at the age of 6 showed a mild degree of cerebral atrophy with no clear BG lesion (). Fiber tractography using diffusion tensor imaging revealed no serious damage to the corticospinal tracts on either side (). His family history, perinatal period, developmental history, and past medical history were all normal. In his clinical assessments, manual muscle testing scores of the upper extremities, trunk, and lower extremities were 4/5, 2/5, and 2/5, respectively, with no side-to-side differences. Although his muscle tone and somatosensory function were normal, he was unable to maintain his posture or stabilize his extremities because of involuntary movement that involved the whole body. In addition, his involuntary movement was exacerbated before he initiated a voluntary movement. In daily life, he required a trunk belt to sit on a chair, and he could not stand without the support for his weight with both hands.\nThe patient was instructed to remain standing with his plastic ankle-foot orthosis for 10 s, leaning forward on a desk on his forearms. Movement of his head during standing was measured using an accelerometer attached to the glabella for 10 s at three time points: before, during, and after tDCS. Acceleration data were recorded at a sampling rate of 1 kHz using an analog-to-digital converter (Power Lab 16/35; AD Instruments, Aichi, Japan) () and were analyzed using specialized software (Lab Chart 7; AD Instruments, Aichi, Japan) to calculate and sum the power spectra within 1–5 Hz for each axis on three dimensions (x-, y-, and z-axis) (). We compared the ratios of power spectrum data (% power) during and after tDCS and divided this by the data prior to tDCS.\nFor the effective stimulation of tDCS, before this experiment we had already administered both anodal and cathodal stimulation to SMA and M1 of the patient and selected the cathodal stimulation to SMA from the other stimulations. Cathodal or sham tDCS was transcranially delivered to SMA at 1 mA for 10 min using a DC stimulator (neuroConn GmbH, Ilmenau, Germany) with 7 × 5 cm electrodes. Each stimulation session was conducted for 3 days, at least 2 days apart. The cathodal electrode was placed over SMA, identified as 2 cm anterior to Cz in the International 10/20 EEG System, and the anodal electrode was placed over the left supraorbital region. In the stimulation period, the participant started the task 2 min after stimulation began. During stimulation, he was asked to keep standing for 10 s at three time points without interruption.\nThe safety of tDCS was assessed by interviewing the patient and his mother, as well as through the examiner's observations. The patient was monitored and frequently asked whether he experienced pain or discomfort during and after tDCS. Before and after tDCS sessions, the experimenter carefully checked the skin where the electrodes were placed. The study protocol was approved by the Ethics Committee of Tohoku University Graduate School of Medicine. The patient and his parent gave informed written consent.\nPercent power data were analyzed via two-way analysis of variance (ANOVA) with the factors “stimulation” (cathodal stimulation and sham stimulation) and “time” (before, during, and after tDCS). In post hoc analysis, multiple comparison was performed using the Bonferroni correction. The level of significance was set at p < 0.05. All analyses were performed using SPSS for Windows (version 20.0; IBM, Armonk, NY, USA).\nshowed results of % power data. The two-way ANOVA showed main effects of “stimulation” (F = 7.3, p < 0.05) and “time” (F = 4.2, p < 0.05). There was a statistically significant interaction of “stimulation” × “time” (F = 4.8, p < 0.05). Specifically, the % power during tDCS was significantly reduced compared with that during sham stimulation. The % power during tDCS was also significantly reduced, compared with that before tDCS but not with that during sham stimulation. Post hoc analysis for the factor “stimulation” showed that % power during tDCS was decreased, compared with that during sham stimulation. Post hoc analysis for the factor “time” showed that % power during tDCS was significantly decreased, compared with that before tDCS. The study sessions were completed with no adverse effects.
A 23-year-old man (weight 65 kg, height 175 cm, and BSA 1.8 m2) with a diagnosis of primitive right atrial enlargement from foetal age was referred to our Centre for cardiological evaluation. Cardiac examination showed increased heart size on percussion and a grade II/VI Levine systolic murmur. No significant pathological findings were found on pulmonary examination. Electrocardiography showed a regular sinus rhythm with a rate of approximately 60 beats/min associated with an abnormal morphology and duration of P wave (enlargement of P wave with duration of 130 msec), together with a low amplitude of QRS complexes in the limb leads. All routine laboratory studies were within normal limits. Chest radiography showed an abnormal cardiac silhouette with increased convexity in the lower half of the right cardiac border and cardiomegaly ().\nTransthoracic two-dimensional echocardiography demonstrated a huge right atrium of about 6.2 cm and a volume of 230 ml/m2, with a thick smoke pattern and mild tricuspid regurgitation. The pulmonary arterial pressure was normal (). The tricuspid valve was normal without significant annular dilation. No stenosis or abnormal displacement of the tricuspid valve leaflets was detected. No significant regurgitation of the tricuspid valve was found despite a partial distortion of the anterior leaflet and compression of the right ventricle inflow. The right ventricle appeared small and compressed anteriorly by the right atrium (area of RV: 11 cm2).\nCardiac magnetic resonance imaging showed a marked right atriomegaly (right atrium area: 66.50 cm2, volume: 220 ml/m2) and normal size of the left atrium (left atrium area: 7.02 cm2). The right ventricle was regular in size and global contractility but was partially compressed and dislocated posteriorly, due to the massive enlargement of the right atrium. The left ventricle was regular in dimension, thickness of the wall, and global/segmental contractility (FE VS = 61%). No evident transvalvular jets or areas of late gadolinium enhancement were found. The pericardium was visualized without focal abnormalities or pericardial effusion ().\nDue to the high risk of arrhythmias and thrombus formation in the right atrium, which is a potential risk for pulmonary embolism, the patient underwent cardiac surgery. Through a median sternotomy, cardiopulmonary bypass was established with standard aorta and bicaval cannulation. After the pericardium was opened, the entire anterior surface of the heart was found to be covered with a thin wall in continuity with the right atrium. No atrial appendage as such was apparent. The right atrium was fully opened. The inferior border of the atriotomy was sewn around the anterior part of the tricuspid annulus, and the superior border was brought over the lateral wall of the right atrium as a flap and sewn near the interatrial groove. This provided adequate reduction of the atrial size and reinforcement of the atrial wall ().\nThe histology of the resected atrial wall showed focal hyperplasic areas of smooth muscle cells with polymorphic nuclei surrounded by a few scattered areas of hypertrophic fibrous tissue.\nPostoperative transesophageal echocardiogram showed a significant reduction of the right atrium area (23 cm2, volume: 93 ml).\nThe patient was extubated 11 hours after surgery. Complications arose postoperatively with the early appearance of pericardial effusion with leukocytosis and elevated inflammatory markers. This was resistant to conventional medical therapy, which in the end required surgical drainage. Medical therapy of the postpericardiotomy syndrome (ibuprofen 600 mg/TID and colchicine 1 mg/OD) was continued over the subsequent 6 follow-up months without further recurrence of pericardial effusion.
A 17-year-old biological male, currently studying in 11th standard was brought to our psychiatry outpatient department (OPD) with complaints of anger and irritability, decreased sleep and repeated threats of running away from home and harming himself for past 7–8 days. In addition to these complaints, the patient (referred to as “he/his” in this report) reported persistent dissatisfaction with his biological sex and repeated conflicts and adjustment problems with family members over this issue for past many years.\nPersonal history revealed that he was born full term with normal vaginal delivery. He was the youngest sibling with one sister who was 2 years elder to him and a brother who was 8 years elder to him. He apparently had normal motor, social, and language development except for girlish behavior since early childhood. Being the youngest one in the family, he was protected and pampered by his mother and elder sister while his father and elder brother were mostly aloof and had minimal interaction with him during his preschool years. He loved to play with dolls and would prefer the company of his sister and her female friends. He completely avoided all outdoor sports like cricket and football and also avoided the company of boys. He used to dress like his mother and sister and style his hair like a girl.\nInitially, there was no familial discouragement, but later when he persisted with girlish activities and expressed repeated desire to develop a body and to dress like a female, conflicts started arising with the family members. Whenever his family tried to impose restrictions on these activities, the patient would become angry and would refuse to comply. He would often report that he had a body of the male, but he feels like a female from inside. He was scolded several times at school for wearing lipstick and nail paint. He was ostracized and regularly teased by the peers (mostly boys) and was often called a eunuch. The patient was distressed when he started developing secondary sexual characters during adolescence and apparently attempted suicide (by overdose of painkillers) at the time when he tried waxing to remove extensive growth of hairs all over his body and was stopped by his family.\nGradually, he found himself getting attracted to males and at around 16 years of age started having a relationship with a boy (classmate). He always thought of himself to be a female in the relationship and described that relationship as heterosexual. The patient reported being physically intimate with his classmate on numerous occasions in school but denied ever having any intercourse. The reason that he gave was that since he lacked a vagina, so he was unable to have intercourse with his classmate. He frequently reported wishing to have a vagina and to get rid of the penis so that he can enjoy a normal relationship with his classmate. He was average in studies and was an active participant in extra-curricular activities in school. He preferred having female friends most of the time as he would feel out of place in the company of males. 10 days prior to coming to psychiatry OPD, his male friend (with whom he was in a relationship) had a fight with him and ran away from his home and did not contact him for 1 week.\nThorough physical examination including genital examination was normal. There were no signs suggestive of hormonal dysfunction and intersex on an expert assessment by an endocrinologist and physician. There was no family history of any psychiatric disorder or any history of substance abuse.\nOn mental status examination, he had a preoccupation with his biological sex and showed repeated displeasure with the same. He would report feeling sad and anxious at times because of the same reason but this sadness would not be persistent and pervasive. He would report having occasional thoughts of ending his life but apart from one attempt around 4 years back, there were no other attempts and no definite plans. He expressed persistent desire to live as a female. There was no evidence of the body delusion, effeminate homosexuality or transvestism. The possibility of paraphilias and other disorders of sexual preferences were ruled out. He was diagnosed as a case of GID of childhood (F64.2) with adjustment disorder with mixed disturbance of emotions and conduct (F43.25) as per the diagnostic criteria of ICD-10. His laboratory investigations including routine blood investigations, serum testosterone, Follicle stimulating hormone, luteinizing hormone, thyroid function tests, and serum prolactin were within normal range. His IQ was found to be 100.\nThe initial focus of the treatment was three-fold: To help the patient develop appropriate coping strategies to deal with conflicts, to psycho-educate the patient and family members regarding the condition and to decide on the future course of management. The patient and the family, through a combination of individual and group sessions, were psycho-educated about the issue at hand, the difference between sex and gender and the spectrum of sexual orientation and gender identity. It was emphasized during these sessions that having a different sense of gender than one's biological sex do not necessarily mean psychiatric illness. The patient was encouraged to develop an attitude of self-acceptance and not to blame anyone (including himself) for his sense of gender. Adequate opportunity was given to both the patient and the family to ventilate the array of emotions which were generated during these discussions. The focus of the family was gradually shifted from “trying to change the patient's gender identity according to his biological sex” to “unconditional acceptance of their child and not to consider it as pathological.” Various issues like “stigma in society,” “future in terms of marriage” and “ability to have children” were elaborately discussed.\nAs the sessions progressed, there was improvement in patient's mood and day to day coping abilities and functioning. A discussion was also held regarding the treatment options available (hormonal and surgical). However, both the patient and the family declined any further treatment for GID.
A 61-year-old man presented to our clinic with complaints of cough with mucopurulent expectoration and blood streaking since 3 weeks and low grade intermittent fever for the past 1 week. He had no history of dyspnea, chest pain, or aspiration. He was not a diabetic and did not have any underlying lung disease or tuberculosis in the past. He had no history of close contact with anyone having tuberculosis either. He had no pets or any significant travel history. He had no addictions. Twenty months before this admission, he was diagnosed with adenocarcinoma of the lower end of the esophagus for which he underwent esophagogastrectomy and gastric pull through surgery. He received 6 months of chemotherapy and radiotherapy and was under regular follow-up of the oncologist. A follow-up contrast-enhanced computed tomography (CT) of the abdomen and chest and an upper gastrointestinal (GI) endoscopy done 6 months later did not show any evidence of recurrence. One year later, he developed altered sensorium and was evaluated with magnetic resonance imaging (MRI) of the brain, which showed multiple heterogeneously enhancing lesions involving the precentral gyrus of the right high frontal lobe, parietal and temporal lobes, with mass effect and perilesional edema suggestive of metastasis []. He was started on dexamethasone 8 mg twice daily, levetiracetam, and cranial irradiation\nTwo weeks later, he developed fever, cough, and hemoptysis and was referred to our clinic. On examination, his vital signs were stable. He was pale, febrile, emaciated, and had clubbing of the fingers and toes. The lymph nodes were not palpable. Examination of the respiratory system revealed bilateral scattered wheezes. He appeared confused but there were no focal neurological deficits. The rest of the systemic examination was unremarkable.\nA chest radiograph showed a cavity in the left upper zone, a nodular lesion in the right middle zone, and left-sided pleural effusion []. His complete blood count was 9500μl with polymorph predominance (95%), hemoglobin was 10 g%, platelet count was normal, and the C-reactive protein level was -360 mg/L. The human immunodeficiency virus (HIV) test was negative. Sputum smear for acid-fast bacilli (AFB), gram stain, cultures, Xpert MTB, and fungal stain were sent and the patient was started on parenteral amoxicillin-clavulanic acid. A contrast-enhanced CT of the thorax showed a thick-walled cavitary lesion in the left upper lobe, left pleural effusion, and multiple bilateral nodular lesions, some of which were cavitating [Figures –]. These features were suggestive of multiple lung metastases or a new onset cavitating lung malignancy (second primary). He continued to have pyrexial spikes and hence, the antibiotics were escalated to piperacillin-tazobactam and levofloxacin after sputum smears for AFB were reported as negative. In view of fever with lung and brain lesions in an immunocompromised patient, his brain and lung images were reviewed and the differential diagnoses that were thought of were tuberculosis, bacterial pneumonia and brain abscess, lung and brain metastasis with secondary infection, invasive fungal infections and other uncommon infections such as nocardiosis.\nSputum gram stain showed occasional gram positive cocci, modified AFB stain showed branching beaded filamentous bacteria [], and the bacterial culture after 72 h did not show any growth. Since all the tests were inconclusive, a flexible fiberoptic bronchoscopy was performed and lavage was taken from the left upper lobe for microbiologic examination and cytopathology. The results of bronchoalveolar lavage reports including Gram stain, bacterial culture, fungal smear, culture, Xpert Mycobacterium tuberculosis (MTB)/rifampin (RIF), AFB smear and culture, and periodic acid-Schiff (PAS) stain were negative and no malignant cells were noted. He was continued on parenteral antibiotics but still continued to have temperature spikes. Five days later, the sputum culture grew dry chalky white colonies, which were identified as Nocardia species and the same grew in the lavage fluid also []. Species identification was done with MALDI-TOF (BioMérieux, France) as Nocardia cyriacigeorgica. It was sensitive to ceftriaxone, trimethoprim, tetracycline, amikacin, and imipenem. Piperacillin-tazobactam, and levofloxacin were discontinued and was initiated on intravenous imipenem 500 mg 6 hourly, intravenous amikacin 1 g once daily, oral trimethoprim-sulfamethoxazole double strength two tablets thrice daily in view of the disseminated disease. A brain biopsy was advised but the patient declined the same. After getting the drug susceptibility reports, imipenem was deescalated to ceftriaxone. He became afebrile after starting a specific therapy for nocardiosis, and his respiratory symptoms resolved. His mental status improved and he became alert and well-oriented. Since his clinical status improved, he was discharged with advice to continue the parenteral antibiotics as outpatient via a peripherally inserted central catheter line. After an initial 4 weeks of intensive intravenous therapy, he was switched to cotrimoxazole and minocycline in the maintenance phase and this was planned to be continued for 6-12 months. A follow-up chest X-ray demonstrated near-total resolution of the pulmonary infiltrates [].\nThe patient continued to have clinical improvement but 3 months later; he developed features of progression of the primary malignancy, anorexia, and electrolyte imbalance. The family opted for comfort care and the patient expired 1 month later.
A 15-year-old East African boy was referred to our hospital with a diagnosis of recurrent TB. Upon review, the patient was found to have a history of productive cough and intermittent low-grade evening fevers for one year and shortness of breath for one week prior to presentation. One year and five months prior to his presentation to our hospital, he had presented to a peripheral hospital with similar symptoms and had been diagnosed with sputum acid-fast bacilli (AFB) and smear-positive TB. He had been treated with anti-TB medications, which brought him only mild relief. Two months after completing anti-TB therapy, his cough and fevers worsened, for which a re-treatment regimen of anti-TB medications, including two months of intramuscular streptomycin, were started on the basis of clinical findings. The sputum examination for AFB had not been repeated. Four months into the course of his second course of anti-TB therapy, the patient stopped taking his medications because he reportedly experienced only mild relief of his symptoms. Repeat Ziehl-Neelsen staining performed two months prior to his admission to our institution was negative for AFB, and no more drugs were given. One week prior to his admission to our hospital, the patient developed progressively worsening shortness of breath, which was even worse while he was lying flat and was associated with dull left-sided chest pain.\nHis social history was significant for crushing stones (rock cutting) for two years, but he had no history of smoking or working in the mining industry. He had no history of TB or other lung disease in his family.\nHis physical examination revealed that he was fully conscious, afebrile, slightly wasted, and dyspneic. His oxygen saturation level was 96% on room air, and his other vital signs were normal. His respiratory examination revealed a respiratory rate of 25 cycles/minute and chest bulging on his left side, but his trachea was centrally located. Other findings on the left side included decreased chest expansion, increased tactile vocal fremitus, dull percussion note, and bronchial breath sounds. The rest of the respiratory examination was unremarkable.\nThe patient was admitted to the medical ward with a diagnosis of recurrent TB with massive left-sided consolidation. A complete blood count revealed a white blood cell count of 8.7 cells/mm3 with a differential of 69% neutrophils, 23% lymphocytes, 6% monocytes, and 1% eosinophils. His hemoglobin level was 10.6 g/dL, and his platelet count was 504 cells/mm3. His erythrocyte sedimentation rate was 20 mm/hour. His renal and liver function tests were within normal ranges. A rapid test for HIV was performed and was negative. Sputum tests for Gram staining and Ziehl-Neelsen staining were both negative. A chest radiograph revealed features of huge left-sided consolidation with complete opacification of the left hemithorax (Figure ). His chest ultrasound revealed that the left lung was completely consolidated. There was no pleural or pericardial effusion, and his right lung was completely normal. Following these examinations, the patient was empirically re-started on the retreatment regimen for recurrent TB, and the cardiothoracic surgery team was consulted about performing a lung biopsy. The cardiothoracic surgery team felt that the patient was too unstable for surgery and requested that medical management be continued until the patient's condition improved.\nOn hospital day 3, the patient's condition started deteriorating, with worsening shortness of breath, wheezing, and hypoxia (oxygen saturation 82% to 90% on room air). He was admitted to the intensive care unit, where his anti-TB medications were continued, together with oxygen therapy. On hospital day 7, the patient died before any further intervention could be performed.\nA post-mortem examination was performed by the hospital's pathologists. As shown in Figures and , the histopathologic examination revealed a huge mass in the left lung with necrosis and suppurative caseation. Microscopic examination of caseous material was negative for AFB. PAS staining was positive and cytological examination revealed yeast cells and capsules of non-viable fungi, suggestive of H. capsulatum. Because of resource limitations at our hospital, no further tests could be performed. The pathologist's impression was that the patient had had pulmonary histoplasmosis.
The second patient (P2) was a 30-year old female with headache (TTH or migraine) several days a week. She was living with her boyfriend and working in primary care clinic. The patient had experienced headaches since she was a little girl and had migraine since she was 15 years old. She had tried lots of medication and had at last found one medicine that had at least some effect – if taken early it could stop an oncoming migraine attack.\nAccording to the baseline data, she had headaches every other day with intensity varying from low to very high ( and ) and sometimes she could not tell if it was migraine, TTH, or something else. The patient had marks around her tongue indicating that she had behavior of pressing her tongue against the teeth. She had negative thoughts about the headache destroying her daily life and became stressed from having headache. The patient did not exercise regularly although she thought she should. This made her feel unsatisfied with herself. She was taking her migraine medicine several times a week (), more often than she thought was healthy. Her perception of disability and feelings of loss of happiness were highly varying depending on how much headache she had (). She had a low self-efficacy for managing her headaches ().\nThere were several behaviors that were supposed to contribute to her headaches, which led to several intertwined FBAs. Contracting her muscles of shoulders, neck, and jaw was a behavioral response primarily in situations when she felt psychological stress. This physical reaction was hypothesized to be a conditioned response to situations that resembled earlier stressful situations and thereby occurred more frequently. She perceived the stress in situations when she was feeling not in control, often because of not only headache but also work-related tasks. Automatic negative thoughts were common in these situations. The consequence was tension and headache and even more stress of not being in control, which positively reinforced her automatic negative thoughts. Her feeling of anxiety for getting headaches was also in close connection with psychological stress. This behavior had the antecedent of knowing that it would not be a good time for having headache, for example, when she knew that she had important things to do that would be difficult to call off. Her low self-efficacy for managing her headaches was thought to be an important factor for maintaining the behavior of physical tension, automatic negative thoughts, and feelings of anxiety.\nSometimes her headache or fear of headache made her take migraine medicine. This operant response had the short-term positive reinforcing consequence of a feeling that she had done something to prevent the worst scenario of migraine headache. At the same time, it made her in the long run feel even less in control over her headache and worried that the medicine would not be healthy and that she would get even more headache from taking them.\nAnother behavior targeted was her physical activity level. Her headaches made her tired and she was not able to be physically active as much as she would like to. She had tried to go to classes at the gym. If she had a headache when she started, the consequence would often be worse headache afterward, a punishment that made it difficult for her to plan the activities. In the long run, her low physical activity might lead to more physical and psychological stress and more headache.\nIn summary, the interrelationship of stress and headache was obvious, and her feeling of not being in control was important for maintaining her behaviors. The short-term goals were that she would feel that she had tools to break behavioral chains earlier and, for example, start to do her exercises instead of getting tense when she felt worried. The long-term goal was set to a maximum of headache 2 days per week.\nThe treatment consisted of 14 visits with home exercises in between, including baseline and follow-up visits.\nBasic targeted physical skills were to learn to activate the deep muscles of the neck and to increase the endurance and blood circulation of neck and shoulder muscles in order to be able to control muscle tension. Cognitive basic targeted skills were to recognize negative thoughts, be aware of the reasons for taking medication, and to use support from her boyfriend to be physically active. Applied skills were better posture in everyday activities, to recognize and replace negative thoughts in activities, questioning medication intake, and to be physically active on a regular basis.\nFirst focus was set on physical skills (i.e., muscular endurance and posture), then cognitive skills (i.e., negative thoughts), after that medication overuse, and finally physical activity.\nThrough all the treatment stages, the physical therapist used techniques to support the patient’s behavior change, with self-monitoring, feedback, shaping, pacing and fading. To strengthen the patient’s self-efficacy in ability to influence the headache and to succeed in the behavior change was important.\nAll outcomes were considered as proxy measures for increased control over muscular tension, psychological stress, and medication overuse.\nThe goal of headache a maximum of two days a week was not met.\nSince the variability of the outcome in diaries through the baseline and treatment phases proved to be high, it was decided that the patient would fill in the diary continuously through the follow-up period (A3) and not only at 1 week before the follow-up visits. The diary for weeks 39 and 40 was lost by the patient.\nHeadache frequency and headache index are presented in and . The variability is high and makes it difficult to draw conclusions, although the trend is that both headache frequency and index reduced slightly from baseline, through intervention, to follow-up.\nThe behavior of migraine medicine consumption reduced considerably when this was targeted in treatment and was stable on a lower level through follow-up, although the variability was high ().\nThe behavior of over-the-counter analgesics’ consumption varied through the phases with no certain difference from baseline through treatment to follow-up ().\nFor the disability and feelings of loss of happiness the variability was high and no trends could be observed ().\nHMSE increased considerably, from baseline to after treatment and through follow-up, indicating that her self-efficacy for managing headache did increase during the treatment ().
A 9-month-old Korean girl was referred to our clinic because of a progressive inability to move her right elbow on January 9, 2007. Approximately 3 weeks ago, the child was seen by a local orthopedic physician. The parents had noted that she was reluctant to move her right arm through complete ranges. Also, the patient would cry when the arm was abducted. At that time, the doctor of the local clinic had an initial diagnosis of a pulled elbow, in which the arm was reducted and put into an arm cast. Three days later, painful swelling in her right elbow developed with the limitation in active movement and inability to rotate.\nThe patient was born by normal vaginal delivery with normal Apgar score. She was vaccinated with Tokyo-172 BCG on the left upper arm at one month of age. BCG vaccine was administered percutaneously by multipuncture method. She had received routine immunizations up to date including hepatitis B, diphtheria-tetanus-pertussis (DTaP), polio (IPV) in accordance with the national vaccination program guidelines. She lived in Ansan and had no history of farm or zoo visit. The patient had no previous history of illness and no known familial tuberculosis history. Physical examination revealed obvious swelling, erythema, tenderness in the area of the right elbow. Furthermore, the range of elbow movement was restricted. Other physical examinations were normal.\nThe laboratory results at admission revealed the erythrocyte sedimentation rate 107 mm/hr and C-reactive protein (CRP) 1+. Radiological studies suggested the lesion in the elbow. Also, MRI revealed contrast enhancement in and around the right elbow, compatible with septic elbow. Signal change and contrast enhancement in the epiphysis and metaphysis of right distal humerus were noted. These features suggested septic elbow combined with osteomyelitis. No other significant abnormal finding was shown in other skeletal areas.\nInitially, septic elbow was diagnosed and surgery was performed to treat osteomyelitis of right elbow and revealed concentrated dirty granulation tissue in the elbow joint space that was removed. After operation, the child had been treated with ampicillin/sulbactam before the proper diagnosis had been established. Since the osteomyelitis lesion was refractory with antibiotic therapy, we considered mycobacterium as the pathogen. A lesion biopsy specimen was sent to the pathology department. Histopathological examination of the biopsy specimen revealed a chronic caseating granulomatous inflammatory reaction. Microscopic examination of the pus with Ziehl-Neelsen staining showed no Acid-fast bacilli but a culture of the biopsy was identified with Mycobacterium tuberculosis. As the postoperative diagnosis was osteomyelitis of M. tuberculosis, we started treatment with regimen of rifampin, isoniazid and pyrazinamide. Following the culture report, the sensitivity test showed that the strain was resistant to pyrazinamide. This sensitivity study was a distinguishing characteristic of M. bovis. Therefore, we requested multiplex polymerase chain reaction (PCR) for the Mycobacterium complex colony to differentiate the pathogen. A mycobacterium culture of the biopsy sample later revealed to have an identical amplification with the BCG Tokyo-172 strain on the multiplex PCR for the Mycobacterium complex colony (). Based on these findings, the diagnosis of osteomyelitis due to Tokyo-172 BCG vaccination was confirmed.\nImmunological investigation for the evaluation of cellular and humoral immunity was performed, including complement CH50, C3, and C4, immunoglobulins and intracellular oxidation (dihydrorhodamine) and revealed normal findings. Therefore, immunodeficiency disorders were ruled out. In addition, an evaluation for extrapulmonary TB was negative.\nThe patient had been treated with a regimen consisting of rifampin (10 mg/kg body weight per day), isoniazid (10 mg/kg body weight per day) and pyrazinamide (25 mg/kg body weight per day) as an outpatient. However, after two months of treatment, MRI showed no interval change (). We added streptomycin (30 mg/kg body weight per day intramuscularly for 10 days) and ethambutol (15 mg/kg body weight per day) instead of pyrazinamide due to the sensitivity result. Pyrazinamide was eliminated because of it is generally considered ineffective for the treatment of BCG osteomyelitis. Following the change of regimen, debridement and curettage was again performed four months after the first surgery. The planned chemotherapy regimen was continued during 12 months. She has been followed up for 2 yr and has remained without signs of growth disturbances or impairment of function in adjacent joints. The function of the right arm was normal in terms of range of motion and activity. The most recent radiological examination showed the decrease of geographic osteolytic lesion on the distal humerus and periosteal reaction, disappearance of neighboring soft tissue swelling, which suggested improving state of osteomyelitis and arthritis. The patient recovered without complications.
A 25-year-old female patient reported to the Department of Periodontics, CSI College of dental Science, Madurai, with a chief complaint of the mobile upper front teeth. The patient also complains of spacing between upper and lower anteriors that keep increasing over a period of 6 months. All teeth were present with root stump in relation to 16 and 26. Her oral hygiene status was fair. No familial history could be elicited.\nHer gingival examination revealed reddish discoloration in the upper and lower anterior region, with rounded margins in the anteriors. The gingiva in the anterior region was soft and edematous, with loss of stippling. There was generalized bleeding on probing evident. The gingival margin was apically placed in relation to the upper and lower anteriors.\nA full-mouth periodontal charting revealed generalized periodontal pockets and clinical attachment loss. Pocket depths were deeper in the molar and incisor region with recession evident in the upper and lower incisor region. Clinical attachment loss ranged from 7 to 10 mm in the incisor region and 5–7 mm in the molar region. Most of the teeth were Grade I mobile, with Grade II mobility in 12, 22, 24, 31, 32, 41, 42 and Grade III mobile 11, 21.\nAn orthopantomogram and a full-mouth intraoral radiograph were taken. Radiographic findings revealed generalized horizontal bone loss with severe bone loss in the anterior region. There was a typical arch-shaped bone loss in relation to the first molar region []. A routine blood investigation revealed no abnormal findings.\nBased on the patient's history, clinical findings, and radiographic findings, it was diagnosed as generalized aggressive periodontitis, according to AAP 1999 classification.\nA through supragingival scaling was done, and oral hygiene instruction was given to the patient. Modified bass method was advised and chlorhexidine mouthwash was prescribed. Amoxicillin 500 mg and metronidazole 400 mg were prescribed for 7 days, and the patient was recalled after 14 days for review and subgingival scaling.\nAt the second visit subgingival scaling was completed. The patient was advised to continue chlorhexidine mouthwash, and oral hygiene maintenance was reinforced, with additional use of interdental cleaning with an interdental brush. Two weeks after subgingival scaling, there was marked a reduction in pocket depth and no bleeding on probing was present.\nOverall treatment was planned with a multidisciplinary approach, with consultations from the Department of Orthodontics, Department of Endodontics, Department of Oral Surgery, and Department of Prosthodontics for complete rehabilitation of the patient. Teeth with hopeless prognosis were identified. Implants were planned for the upper anteriors.\nQuadrant-wise full-mouth flap surgery was done, except on the upper anterior region. Kirkland flap was raised; with respective bone surgery was done. Extraction of root stumps in relation to 16 and 26 was done. Interrupted silk sutures were placed and co-pak was given.\nSutures were removed after 10 days. After suture removal impression with alginate impression material was made for immediate denture in the upper anterior region. After 1 week, extraction of 11, 12, 21, and 22 was done [], and the areas were curetted thoroughly before freshly prepared platelet-rich fibrin was placed in the socket, for socket preservation and sutured [Figures -]. A passively fitting immediate denture was inserted. The patient was instructed not to disturb the surgical area for 1 week. Betadine gargle was prescribed. Sutures were removed after 1 week. The patient was recalled after 45 days for implant placement.\nAfter 45 days, implant placement was planned for the replacement of 11, 12, 21, and 22. A full-thickness mucoperiosteal flap was raised in the upper anterior region. Bone quality was poor (Type 3). Furthermore, there was reduced vertical dimension. Sequential drilling was done, up to 2.8 mm final twist drill. Three implants of 3.75 mm × 11.5 mm were placed. The implant in relation to 12 was angulated more palatally because of lack of buccal bone. Interrupted sutures were placed and radiograph was taken to check the implant position []. Second-stage surgery was planned after 8 months. Sutures were removed after 1 week.\nAfter 1 week, sutures were removed and the RPD was adjusted before fitting. The patient was under review every month for the next 8 months. After 8 months, second-stage implant surgery was done, healing abutments were connected, and sutures placed. Sutures were removed after 10 days and an open tray impression was taken with rubber base impression material, after that the impression coping was splinted with pattern resin. The impression was send to the laboratory for processing.\nGig trial was checked after 10 days, and Cementable final denture was delivered in 15 days. The patient was recalled after 1 week for checkup. After which, the patient is reviewed every 6 months, for the past 2 years.
A 61-year-old man had been admitted to an intensive care unit due to severe blunt chest wall trauma from a motor vehicle accident. His injuries were right massive hemopneumothorax, a flail chest and intrahepatic hematoma. Two thoracic catheters were inserted into his right thorax, and computed tomography revealed active bleeding from three vessels, which was controlled by transcatheter arterial embolization. The patient had required prolonged ventilator support owing to his chest wall instability and idiopathic dilated cardiomyopathy with an ejection fraction of approximately 30%, which had been previously evaluated. We had trouble liberating him from a ventilator and carried out tracheostomy on the 10th day of hospitalization.\nOn the 17th day, the patient was still receiving ventilator support. Thus, in order to increase urine output and correct metabolic alkalosis, 500 mg acetazolamide was given i.v. One hour after the injection, he suddenly developed hypertension, tachycardia (Fig. ), and hypoxemia (PaO2/FiO2 ratio was less than 100 mmHg). Wheezing sounds were heard on chest auscultation and much pinkish foamy secretion was suctioned through his tracheal tube. He showed choking-like signs and his ventilator monitor showed an extremely high airway pressure and significantly decreased tidal volume, which limited its function, and he was transitioned to manual ventilation. Chest radiography (Fig. ) revealed a bilateral butterfly shadow. We assumed that he developed acute pulmonary edema caused by acute exacerbation of congestive heart failure. Therefore, the respiratory failure was treated using diuretics, nitric acid, and an inhaled β2 stimulant to help relieve the airway pressure. As the event resolved after approximately 8 h, we did not advance a detailed evaluation.\nHowever, 5 days following the previous episode, the same dose of acetazolamide was again given for the same purpose, and the patient experienced an abrupt episode of respiratory failure that was identical to the first. Over the period of the second episode, we managed to carry out additional evaluations, other than chest radiography. A ventilator recorded extremely poor lung compliance, which was less than 10 mL/cmH2O, and slightly increased airway resistance. These suggested the extremely high airway pressure was not derived from bronchospasm, but from pulmonary parenchymal edema. Moreover, echocardiography revealed a hypercontractile left ventricle compared to the usual state, although there were no signs or evidence of significant fluid overload. Only β-blocker infusion was selected to suppress catecholamine surge-like symptoms, such as hypertension and tachycardia, and the second episode spontaneously resolved as well.\nIn the two episodes, the symptoms were provoked just 1 h after the acetazolamide shot, but there were no apparent signs or evidence of anaphylaxis, such as bronchospasm, cutaneous and mucosal lesions, or shock. Although dilated cardiomyopathy might affect respiratory failure, the patient's left ventricular contraction observed by echocardiogram relatively improved during the episodes. In addition, the cardiac indexes measured by a radial arterial catheter, as described in Figure , suggested that the patient cardiac output had increased rather than decreased during the attack. Therefore, it was difficult to attribute the pathophysiology as purely cardiogenic. Finally, we concluded that the pulmonary edema was provoked by acetazolamide. We subsequently avoided the use of acetazolamide and the patient did not experience any further episodes of severe respiratory deterioration, which suggested that the episodes could be associated to the drug.
A 47 year old extremely athletic male who competed in track events, which included pole vaulting, won numerous awards and all American status for his athletic prowess. Approximately 12 years ago, he noticed that when he would ingest certain foods containing sugar, he would develop a constellation of symptoms within minutes. It first started with eating melon, then frozen yogurt, and then virtually all foods containing small amounts of sugars. These symptoms included: angst, discomfort, and nausea, followed by flu-like symptoms included headache and muscle discomfort. Subsequently he would develop fever up to 103 degrees and neuropathic-like pain in the extremities. These symptoms have become more severe in recent years. His diet for the past 18 months consisted exclusively of 4 oz of beef or chicken and white rice for each meal with no exceptions. Any deviation resulted in the symptoms described above. In addition, he was taking certain medications on a regular basis, which contained lactose, and was becoming increasingly "sensitized" to these sources of sugar as well. His weight has dropped from 178 lbs to his present 148 lbs.\nSince he was an extremely athletic individual and had participated in track events including running and pole vaulting etc., he found that intense physical activity could alleviate these symptoms. He noted that with repeated sprints between 50 and 100 meters with 10 repetitions, he could minimize the pain and discomfort following ingestion of sugars. Moderate exercise did little to ameliorate symptoms. He consulted with numerous physicians over a number of years. Internists, allergists, and endocrinologists afforded him little relief because all of his laboratory values were essentially normal. CAT scans, MRI's, EMG's and extensive laboratory tests were done with no abnormal findings except for a 3 fold elevation of calcium channel activity and an elevated interleukin-8 baseline titer. A presumptive diagnosis of diabetes was subsequently ruled out.\nNoting the rapidity of symptoms (15 to 30 minutes) following ingestion of sugars, it suggested that cytokines such as TNF could be involved in the above syndrome. Furthermore, it has also been reported that strenuous exercise can result in the induction of interleukin 6 (IL-6) which can alleviate symptoms triggered by TNF []. Investigators reported that IL-6 stimulates the production of interleukin 1 receptor antagonist and stimulates interleukin10, a known TNF antagonist. Because of the known ability of mannose to block the mannose receptor on macrophages [] resulting in decreased production of TNF, we suggested that he obtain some mannose to see if it could block the untoward response to his medication containing lactose. Mannose, either in capsule form, or placed directly on his tongue prior to each dose of medication was quite successful in alleviating symptoms, even when he could not identify the source of the sugar. Invariably, administration of mannose caused a profound reduction of his symptoms and aborted the more serious complications which would follow. He now carries a supply of mannose capsules with him wherever he goes. The amounts of mannose employed depended on the severity of the reaction. Multiple doses varying from 1 to 3 grams each (2–6 capsules) at 15 minute intervals were successful at ameliorating the symptoms.\nIn order to further clarify the nature of the response we suggested a challenge with a known amount of glucose followed by a rescue with mannose. Under controlled conditions, GC took approximately 200 mg of glucose, in divided doses for safety reasons, and responded within minutes with the usual symptoms. Blood samples were withdrawn every 20 minutes and stored at -70° for TNF assay by enzyme linked immunoabsorbent assay. In less than one hour after glucose ingestion, TNF titers rose from undetectable to approximately 45 pg/ml, and remained elevated for at least 20 minutes. At that time, a course of oral mannose was administered resulting in undetectable TNF at the next bleeding 20 minutes later. It should be noted that normal levels of TNF are undetectable to a few pica grams per ml serum. Because his response was essentially "dose dependent" to the level of exposure, it was felt that far less than 200 mg of glucose would have also induced TNF but because of time limitations that was not possible to evaluate.
An 85-year-old Caucasian man was admitted to hospital following three collapse episodes with transient loss of consciousness at home. Each episode was short-lived lasting several minutes. Apart from mild abdominal generalized discomfort, there were no other symptoms. There was no history of recent trauma. He had no history of similar episodes but was known to have severe aortic stenosis, type 2 diabetes, paroxysmal atrial fibrillation, hypertension and a previous duodenal ulcer bleed.\nAt that time, he was taking aspirin, bisoprolol, omeprazole and ramipril. He lived with his daughter and was independent with his activities of daily living. He had not smoked for 35 years and his alcohol consumption was minimal.\nOn examination, he was apyrexial, oxygen saturation was 100% on air. His blood pressure was 80/40 mmHg. He was persistently hypotensive despite aggressive fluid resuscitation. There was an ejection systolic murmur on cardiac auscultation. His venous pressure was not elevated and there was no leg edema. The lungs were clear on auscultation. Upper and lower limb pulses were equal bilaterally. Examination of his abdomen revealed mild epigastric discomfort, but there was no rebound or peritonism and bowel sounds were present. Per rectal examination was normal.\nInitial blood results showed a hemoglobin of 11.3 (13-18 g/dL), white cell count of 11 (4-11 × 109/L), and platelets of 136 (150-450 × 109/L). Coagulation profile, renal function and liver function tests were within normal limits. His chest radiograph was normal and his electrocardiogram showed left ventricular hypertrophy. At admission, he was taken to the coronary care unit for cardiac monitoring because of the history of collapse with loss of consciousness which was thought to be related to his aortic stenosis. An urgent echocardiogram was performed which showed evidence of aortic stenosis, but no evidence of critical stenosis with good ejection fraction > 55% and good biventricular contraction.\nA repeat full blood count showed that his hemoglobin had fallen to 4.9 g/dL and he was transfused with red cells, platelets and cryoprecipitate. The impression was that this patient had a possible dissecting thoracic aneurysm that was possibly extending into the abdomen. He was transferred to the intensive care unit.\nIn view of the differential diagnosis of a possible dissection, an urgent chest and abdomen CT scan was performed which showed normal appearances of the thoracic and abdominal aorta with no evidence of aneurysm or dissection. However, the scan revealed a large amount of free intra-peritoneal fluid with areas of low attenuation in the right lobe of the liver. The appearances were concluded to be of metastatic disease within the liver (Figures , , . No primary tumor was identified. A diagnostic peritoneal tap was performed and frank blood was aspirated confirming that there was hemoperitoneum. An acute intra-abdominal bleed from the liver metastatic disease was diagnosed.\nOur patient had an esophageal gastro-duodenal endoscopy as he had been taking aspirin and had a past history of a duodenal ulcer. This did not show any evidence of bleeding. A rigid sigmoidoscopy was also normal.\nWhilst on the intensive care ward, our patient's blood pressure subsequently improved and he did not require inotropic support. He had no further hypotensive episodes and improved during his stay on the ward. Given the advanced nature of his hepatic metastases, he did not wish to have further investigations to identify the primary source of the metastases and decided on conservative supportive treatment, as advised by the oncologists. He was referred to the Macmillan and Hospital Palliative Care Team. Subsequently, he died three months later. A post-mortem was not performed.
The second patient was a 64-year-old man who presented similarly, with 2 weeks of intermittent pyrexia and profuse night sweats. He had a tissue aortic valve replacement for severe aortic stenosis 5 years prior to presentation. He underwent aortic root replacement 2 years later. There were no localizing symptoms. On examination, he had an ejection systolic murmur heard throughout the precordium with a valvular click noted. Examination showed no peripheral stigmata of endocarditis.\nThe ECG showed sinus rhythm and chest X-ray was normal. Full blood count and renal function were normal. Liver enzymes were slightly elevated without jaundice or hypoalbuminaemia. The CRP was elevated (47 mg/L) (<5 mg/L). All blood cultures were negative and a sample for mycobacterial culture was sent. HIV and hepatitis screen were negative. Transthoracic and transoesophageal echocardiography showed no vegetations. Abdominal ultrasound showed a thickened gallbladder wall and one small gallstone. CT thorax, abdomen, and pelvis excluded the presence of malignancy or abscess as the cause of the pyrexia.\nAn FDG PET CT scan was performed which showed a retrosternal soft tissue density/collection involving the pericardium and linear increased uptake was noted in the ascending aorta and root (). This mass was felt to represent an abscess. There were also metabolically active areas in the right upper lobe and focal splenic uptake. The mycobacterium blood culture isolated a Mycobacterium avium intracellular type organism which was identified later as M. chimaera infection, and diagnosis of infective endocarditis secondary to M. chimaera was established.\nPatient 2 was initially treated as endocarditis and started on intravenous flucloxacillin, rifampicin, and gentamicin. Based on the equivocal abdominal ultrasound result, microbiologists briefly advised treating with intravenous piperacillin–tazobactam for suspected cholangitis. There was no right upper quadrant tenderness however and clinical suspicion of cholangitis was low. He continued to spike temperatures prompting the addition of doxycycline to cover for atypical bacterial infection. His temperature settled and he was discharged with infectious diseases team outpatient follow-up in 2 weeks. Over the follow-up period, he reported rigors and night sweats. The diagnosis of M. chimaera infective endocarditis was eventually established based on the results of the PET scan and the mycobacterial blood cultures.\nHe was commenced on rifampicin, ethambutol, and clarithromycin. His temperatures had settled and his night sweats reduced in frequency and intensity. However, his appetite remained poor and he continued to lose weight. On follow-up with the infectious disease consultant, he complained of dysphagia and ongoing weight loss. He also developed an extensive rash over his arms, legs, and back. The infectious disease team felt this was medication-related and decided to stop all antibiotics temporarily until the rash resolved.\nAfter stopping all medications, he continued to feel unwell and shivery with myalgia and a diffuse itchy rash. He became persistently pyrexial and developed diffuse erythroderma. The patient was admitted to hospital, received topical steroids, improved and was discharged after a week. This presentation was discussed in the multidisciplinary infectious disease meeting and diagnosed as DRESS syndrome secondary to clarithromycin. The rash completely resolved after 1 month. The patient was then admitted for reintroduction of antimicrobial therapy for M. chimaera infection and discharged without complications.\nAfter 2 months, the patient developed gradually worsening dysphagia. Swallowing assessment did not show structural abnormality. His barium swallow was normal, and CT scan of the chest, abdomen, and pelvis showed new diffuse parenchymal lung shadowing with new significant splenomegaly. A diagnosis of disseminated M. chimaera infection was then made. An honest and thorough discussion with the patient and family about the situation was held to discuss his poor prognosis and poor response to therapy as well as a ceiling of care. In his case repeat cardiac surgery to remove the infected valve was not feasible as he had undergone two previous cardiac operations; a third operation was felt to be too high a risk. The patient expressed the wish to die at home. After discussion with the palliative care team, a plan for care of the dying person was set up. He died almost 1 year after the initial presentation.
A 52-year-old Caucasian woman with a past medical history of severe hypertension and non-insulin dependent diabetes mellitus presented with bilateral subacute visual loss which progressed over eight to 10 days to perceiving only light in the left eye and only hand movements in the right eye. The visual loss was preceded by dull ocular pain which persisted after the onset of visual loss. The patient experienced pain on eye movements but had no double vision. The patient did not have any temporal artery tenderness and temporal pulses were palpable bilaterally.\nOn fundoscopic examination, both optic discs were swollen and no retinopathic changes of diabetes or hypertension were evident. There was no evidence of venous engorgement. There was reduced color vision in both eyes and a left relative afferent papillary defect was present. Visual field mapping showed a left central scotoma and a normal right sided visual field. The patient's blood pressure was 152/80 on admission and lower on subsequent readings during her hospital stay. The remaining neurological examination was unremarkable. There was nothing in her history or physical examination suggestive of connective tissue disease or sarcoidosis. Initial blood tests showed a normal full blood count, normal urea and electrolytes (U&Es), normal liver function tests, a normal C-reactive protein (CRP; < 1) and plasma viscosity and a raised glycated haemoglobin (HbA1c) of 7.3% (normal 4 to 6.1). Chest X-ray was normal. A lumbar puncture was performed which yielded cerebrospinal fluid (CSF) with normal white and red blood cells, a normal angiotension converting enzyme (ACE) level, no oligoclonal bands and a marginally elevated protein level of 467.7 mg/L (normal 150 to 450 mg/L). A magnetic resonance imaging (MRI) scan of her brain and spinal cord was normal.\nA provisional diagnosis of acute ischaemic optic neuropathy was made by the general medical team and the patient was started on aspirin with omeprazole cover. On review by the neurology team a day later the cause was thought to be inflammatory rather than ischemic. She received a three day course of intravenous methyl prednisolone. Vision improved to 6/6 in both eyes within two days with full restoration of color vision and visual field defects. Ten days later however, vision deteriorated again in the right eye to 6/36 with a temporal peripheral field loss. The relative afferent papillary defect had now switched to the right eye. The patient received 500 mg oral methyl prednisolone for five days. Her visual acuity and visual fields returned to normal within two days.\nA subsequent auto-immunity screen including aquaporin-4 antibodies was negative. Visual evoked potentials performed twelve days after the onset of the second episode of visual loss were delayed bilaterally (left > right) indicating bilateral optic nerve dysfunction. Her pattern electroretinograms, brainstem evoked potentials, median nerve and posterior tibial somatosensory evoked potentials were normal bilaterally.\nThere was no evidence of Leber's hereditary optic neuropathy on genetic molecular analysis. The m.11778G > A, m.3460G > A, m.14484T > C mitochondrial mutations were tested for and not detected in our patient.\nA chest computed tomography (CT) was normal and did not show any hilar adenopathy or any other features of sarcoidosis.\nSerial MRIs over the next four months were normal without any inflammatory lesions and oligoclonal bands were negative which excluded multiple sclerosis.
The patient is a 67-year-old woman with no history of stroke, spinal cord injury, or other neurological disorders, who was subsequently admitted to an intensive care unit (ICU) due to dyspnea. The patient had been taking medicines to control hypertension, atrial fibrillation, and had a left hemithyroidectomy as diagnosed approximately 40 years ago. The patient was diagnosed with asthma approximately 3 years ago, and this diagnosed condition appeared to become worsened at this time. The patient is noted to have suffered from a cough, sputum and fever for 1 week. The results of the patient's chest X-ray showed a collapsed left lower lobe of lung. After rapid intubation, the patient was brought back to a stable condition status gradually over time. Despite the reduction of the fraction of inspired oxygen, the patient's saturation of peripheral oxygen was maintained above 95%. At that time, the patient was transferred to general ward after extubation was performed. The duration of endotracheal tube placement for this patient was observed as taking 57 hours and 10 minutes.\nIn general ward, the patient complained of hoarseness and a sore throat. The patient presented with a paralyzed left vocal cord and bowed right vocal cord, which were found through the utilization of a laryngoscopy by an otolaryngologist, who therefore planned an injection laryngoplasty (IL) to improve these noted symptoms. After receiving the extubation, the patient also complained of reflex cough when she swallowed something, which suggested the incidence and presence of PED. The patient was examined with videofluoroscopic swallowing study (VFSS). The report showed the case of a profoundly decreased laryngeal elevation and epiglottic folding, incomplete laryngeal closure, inappropriate relaxation of UES, moderate residues in pyriform sinus and a massive aspiration (). It was noted that the patient's rating as measured by the American Speech-Language-Hearing Association National Outcome Measurement System (ASHA NOMS) Swallowing Scale was rated at the number and level status of 1. Consequently, the patient maintained a nasogastric tube, and had swallowing training including postural changes and compensatory maneuvers to assist with the management of this function. Additionally the patient received functional electrical stimulation (FES) for 4 weeks. In this case, the VFSS was examined every week after swallowing training and FES, but it did not improve for 1 month and a half afterwards.\nFor the attempt to utilize and apply alternative approaches, the patient was given a BoT injection for the management of the insufficient opening of the UES. There were a total of 20 units of BoT that were injected into the patient on two location sites of UES (). After receiving the BoT injection, it is noted that the patient's laryngeal elevation, epiglottic folding and relaxation of the UES were significantly enhanced. In short, it should be noted that neither the aspiration, nor the penetration was shown at that time (). The ASHA NOMS was 5 at that time. The patient's symptoms were noted, suggesting that the PED was much improved. The IL was also performed at the same time for the management of hoarseness and sore throat. As a result, the patient was able to manage to therefore eat a soft diet, and tolerate drinking water with thickener as taken by mouth. The patient was eventually discharged without the use of a nasogastric tube.\nAfter 2 months, the follow-up study regarding the patient was reviewed, and the patient was examined at the outpatient clinic. Contrary to the doctors' expectations of the patient's progress, it was noted that the results were aggravated at the time of review. In that case, a silent aspiration was observed when the patient drank fluid from a cup, which we surmise was due to an incomplete laryngeal closure, as noted with decreased laryngeal elevation and epiglottic folding. The relaxation of UES was also inappropriate.
A 80-year-old female with hypertension, diabetes mellitus, was referred to our hospital for fever, metrorrhagia and rest pain in right leg. Medical history reported uterine cancer and gallbladder cancer treated many years before with hysterectomy and cholecystectomy, . Five years before, a right superficial femoral artery stenting was performed for rest pain. No coronary artery disease. At admission, her physical examination revealed atrial fibrillation, blood pressure of 150/70 mmHg, fever (37.5 °C), respiratory rate of 20 breaths/min and oxygen saturation of 95%, abdomen's soft and non-tender with inflammation in genital region caused by Candida albicans infection with Vescicovaginal Fistula complicated by urinary tract infection. Vascular examination showed lack of distal pulses with cyanosis of right foot. Duplex ultrasound (DUS) showed narrowing residual lumen and monophasic wave on both iliac-femoral axes with occlusion of stent in SFA.\nThe subsequent CT-angiography showed any significative alteration in the thoracic and abdominal aorta, but in iliac-femoral axes were confirmed an important atherosclerotic disease with significative stenosis on both common and occlusion of right external iliac artery; furthermore, right superficial femoral artery showed an occlusion of stent with its proximal tract involving the origin of right deep femoral artery (DFA), determining an obstacle to direct flow (). After a gynaecological and urological consult that declared as not urgent the problems previously highlighted, the reduced blood flow in the right leg and foot was identified as the main cause of right leg clinical conditions. A simultaneous multilevel hybrid treatment was proposed to address simultaneously the MPAD. After spinal anaesthesia, the hybrid approach consisted of a first step with common femoral endoarterectomy and dacron patch angioplasty prior section of stent involving the origin of DFA. The iliac axis stenosis was also addressed by placing a 7 × 70 mm Silene (InSitu Technologies, USA - Minnesota) in the common iliac artery with extension in external iliac artery with 7 × 150 mm Viabahn Stent graft (WL Gore and Associates, Flagstaff, AZ, USA). After intervention, a direct blood flow was registered in the right DFA. On second post-operative day, the patient was asymptomatic for pain with normalization of cyanosis. The patient was discharged after a week with double antiplatelet therapy and advanced inguinal medication to avoid infectious complications.\nAfter two months of the index procedure, the patient was readmitted due to inguinal wound dehiscence with a purulent secretion through a fistulous channel and signs of sepsis. The patient had missed every check and urological problems were progressed with urine output on the inguinal wound, despite the presence of bladder catheter.\nThe control CT showed an occlusion of iliac stent with gas bubbles inside the stent graft and peri-iliac soft tissue attenuation that suggested a graft infection (, ). Moreover, there was a suspect of disconnection between patch and arterial wall with dislocation outside of arterial wall in final tract of viabahn stent graft (). Antibiotic treatment was initiated with intravenous meropenem and vancomycin.\nLaboratory data were as follows: White blood cell (WBC) 37,000/μL (neutrophils: 95%), C-reactive protein (CPR) 131.5 mg/dl, pro calcitonin 11.6 μg/dl, Hemoglobin (Hb) 8.9 g/dl, Haematocrit (Hct) 27.3%.\nThe patient was transferred to the operating room, under general anaesthesia, long midline laparotomy was performed. After peeling off the intraperitoneal adhesion, right common iliac artery was controlled (). In abdomen was present ascites. The stent-graft was completely removed with a traction after a surgical access on common iliac artery and common femoral artery where patch was partially disconnected from arterial wall (, ). A procedure of revascalarization was not taken into account for high risk of reinfection and the lack of arterial wall suitable for a vascular anastomosis. Intravenous meropenem and vancomycin were continued for 30 days after surgery, followed by a further 15 days of oral levofloxacin. The cultures from the expulsion site and the explanted stent-graft demonstrated Staphylococcus aureus sensitive to the meropenem; thus, the antibiotic regime was continued throughout hospitalization.\nAt 24 h from index operation, an ischemic deterioration of right leg was present and a major amputation was needed.\nAfter amputation Clinical and laboratory findings were suggestive for sepsis regression: White blood cell (WBC) 20,000/μL (neutrophils: 81%), C-reactive protein (CPR) 108.5 mg/dl, procalcitonin 8 μg/dl, Hemoglobin (Hb) 8.5 g/dl, Haematocrit (Hct) 26%.\nThe patient was discharged home after 3 weeks with three per day amoxicillin/clavulanic acid 875/125 mg and daily wound dressing. After two weeks, the surgical wound was closed.
A 72 year-old male was diagnosed with subungual melanoma removed from the nail bed of his right thumb in 2007 with a depth of 1.0 mm at the site of prior melanoma in situ dating back to 1981. In 2009, he had a recurrence at the same site extending down his digit and necessitating amputation of the distal phalanx. Resected sentinel nodes showed a melan-A positive focus of hyperchromatic atypical melanocytes in one node and S-100 positive dendritic cell staining in the other two nodes. Due to potential surgical complications and patient preference for observation, complete dissection was not performed.\nIn 2010, the patient presented with multiple bullae on the back. The diagnosis of BP was made by a skin biopsy and clinical and pathological correlation [Fig. ]. Disease activity was managed with high dose oral prednisone with eventual taper and disease remission after one year. In 2011, the patient noticed a new lump in his right axilla. Pathology confirmed malignant melanoma with a cKIT mutation (L576P in exon 11) completely replacing a lymph node. Positron-emission tomography (PET) revealed lung nodules, suspicious for metastatic disease. The patient declined a recommended lung biopsy and, after discussion of the risk of BP flare, therapy was initiated with ipilimumab at 3 mg/kg. Several days after the second dose, he experienced severe exacerbation of his BP with mucous membrane involvement for which he was hospitalized and treated with a 9-week course of 60 mg of prednisone. He subsequently maintained control of BP with 15 mg of prednisone daily.\nAfter discontinuing ipilimumab, computed tomographic (CT) scan showed numerous enlarging bilateral pulmonary lesions and mediastinal lymphadenopathy. Magnetic resonance imaging (MRI) of the brain showed small volume brain metastases to the left internal auditory canal and the inferior aspect of right cerebellum, which were clinically asymptomatic. He declined radiation therapy for the brain lesion and began therapy with nilotinib, a small molecule tyrosine kinase inhibitor for cKIT mutant melanoma, at a dose of 400 mg twice daily. After three weeks of treatment, CT scan showed interval improvement in previously noted mediastinal lymphadenopathy. Over the following year, his nilotinib dose was reduced to 200 mg BID or held due to elevated liver function tests and prolonged QT interval. During this time, imaging showed interval progression of his brain and lung metastases. He received stereotactic radiosurgery to the right cerebellar lesion with subsequent stabilization of the brain lesions on imaging.\nIn 2014, he developed new osseous metastases to the thoracic vertebrae. Nilotinib was discontinued and he received palliative radiation to the spine for local disease control. At this time the patient completed prednisone taper without flare of his BP. The patient then received pembrolizumab, at a dose of 2 mg/kg given every three weeks. The first 3 doses of pembrolizumab were well tolerated with minimal bullous eruption, which was controlled with clobetasol 0.05 % topical cream. Imaging after 10 weeks of treatment showed essentially stable disease, and a cutaneous metastasis on his wrist flattened and regressed [Fig. ]. However, following the fourth cycle, the patient developed a severe BP flare resulting in discontinuation of pembrolizumab and the start of oral prednisone at 60 mg a day. Over the next three months, the patient’s BP lesions had resolved and prednisone was tapered off, allowing for a fifth cycle of pembrolizumab [Fig. ]. The patient again developed a flare of BP requiring patient to stop anti-PD1 and again start prednisone at the same dose. He had improvement of skin lesions but was unable to taper below 15 mg without worsening symptoms. One year following initial treatment with pembrolizumab, scans show stable disease with unchanged brain, pulmonary, and osseous metastases. Clinically, the patient feels well and denies symptoms related to his metastases. He is undergoing continued monitoring of both his metastatic melanoma and his BP.
A 57-year-old Chinese female was referred to National University Hospital, Singapore in February 2016 for management of a hard swelling over her right TMJ. This patient suffered from chronic right TMJ pain for more than 5 years. She had consulted several physicians over the past few years, but could not obtain a definitive diagnosis. There was no prior treatment provided. Her past medical history includes surgical excision of left breast fibro-adenoma, recurrent upper urinary tract infection, stress urinary incontinence and infective colitis. She was on active follow up with the Otolaryngology department for hoarseness of voice. She was a non-smoker and non-drinker. There was no known history of any genetic disorder. The patient denied any history of trauma or infection to the jaw area. There were no other family members with a history of temporomandibular joint or jaw swelling.\nOn examination, a localized swelling was palpable over the right pre-auricular region which measured 15 mm by 20 mm. It was tender upon palpation and had a bony hard texture. The swelling appeared distinct from the TMJ capsule as it did not move when the right mandibular condyle translated anteriorly during mouth opening. On maximal mouth opening, the condylar translation at both TMJs was similar. The maximal mouth opening was normal. The overlying skin was normal in consistency and was not fixed to the swelling.\nA series of lab tests were ordered, including liver function test, renal function test and complete blood count. All results were being found to be within normal ranges. A dental panoramic tomogram (DPT) was taken (Fig. ), but no distinct lesion could be observed at the right TMJ. Unenhanced computed tomography (CT) was taken subsequently (Fig. a-b). It revealed a sharply defined hyper-dense benign-looking ovoid mass measuring 10 mm by 13 mm by 20 mm within the subcutaneous layer over the right pre-auricular region. It was closely associated with the lateral aspect of the right TMJ. No bony erosion of the right TMJ was noted and both the joint capsule and mandibular condyle appeared normal.\nThe provisional diagnosis was tumoral calcinosis (TC) of the right TMJ. This was because the mass appeared distinct and was not contiguous with the right mandibular condyle. There was no erosion of the mandibular condyle. The joint space and capsule appeared preserved on CT. Other less likely differential diagnoses included synovial osteochondromatosis, synovial chondrosarcoma and osteochondroma.\nIn view of the swelling and chronic pain of more than 5 years, she was advised to undergo surgical excision of the calcified mass. Subsequently, surgical excision of the calcified mass was performed through a pre-auricular approach under general anaesthesia in March 2016 (Fig. a-b). Intraoperatively, the mass which was excised was juxta-articular in terms of location. It was well-circumscribed, bony hard on palpation and had no fixation to the TMJ capsule.\nHistological examination of the specimen reported nodular fragments of amorphous pink matrix and fibrous tissue with calcified areas. There were areas of foreign body reaction. Figure there was no evidence of epithelial proliferation, atypia, neoplasm or malignancy. The specimen tested negative to Congo-red stain. Refractile crystals were not identified. The histological findings were compatible with tumoral calcinosis.\nThe post-operative recovery was uneventful. Pain at the right pre-auricular region was resolved after surgical excision of the swelling. There was no limitation of function of the right TMJ. Maximal mouth opening was normal and the patient could eat well. Upon histological confirmation of TC, a baseline serum electrolyte test was ordered for this patient. The baseline serum calcium and phosphate levels were normal.\nThe patient was reviewed regularly for 3 months. However, she subsequently defaulted on her follow-up appointments after the review in April 2016. She eventually returned for a review on September 2017, 17 months after surgical excision. There was no clinical recurrence noted. The pre-auricular skin wound healed with minimal scarring. She reported minor sensory deficit in the right pre-auricular region with a Visual Analog Scale score of 1/10. Other than the minor sensory deficit, there were no other adverse outcomes. She was able to functional well without any limitation or pain. Serum electrolytes were tested again and levels were normal. Further follow-up appointments were arranged. However, the patient defaulted on the subsequent appointments.
A 62-year-old woman was referred to our neurosurgical outpatient service with abnormal sensation in her trunk, arms and legs. The patient had a past medical history of a gastric ulcer, a right ankle plating after fracture 20 years ago and a headlice infection 6 months before first presentation. She was a smoker, social drinker of alcohol and was not taking any regular medication. She lived alone and had been struggling to manage independently.\nSince her symptoms commenced 3 years previously, the patient had presented to emergency department (ED) on 11 occasions. Her primary complaint was of dysaesthetic sensory symptoms including a feeling of water retention and a gel infiltrating the skin of her face, trunk, arms and legs, feeling there was something stuck on her skin and feeling her hair was stuck down. In the weeks before the onset of her symptoms, the patient started using an olive oil moisturising cream, to which she attributed her symptoms.\nWhile dermatological examination was conducted, comprehensive neurological examinations were not documented during the first presentations to the ED, which focused on the patient’s facial dysaesthesia.\nThe patient was frustrated that her symptoms were repeatedly dismissed as delusional by the ED staff. She refused assessment by liaison psychiatry and mental health review by her general practitioner. The patient was felt to have capacity throughout all consultations. The patient was not taking any psychiatric medications.\nOver time her symptoms progressed. She started to complain of back pain, multiple falls and episodes of her right leg giving way which had progressed to severely compromised walking and coordination. The patient also complained of episodes of urinary and faecal incontinence. This led to a lumbar MRI which ruled out cauda equina syndrome. In her final presentation before referral, she also complained of stiff legs, difficulty walking, difficulty passing urine, reduced manual dexterity and neck pain. A neurology assessment was finally sought and an MRI for suspected myelopathy was organised.\nOn presentation to our neurosurgical clinic, the patient’s complaint remained sensory dysaesthesia from her neck down, particularly affecting her hands and groins. She complained of her body feeling like a ‘wet gel-like substance’. In addition to the above symptoms, the patient also complained of a 3-year medical history of numbness and tingling in her upper limbs.\nOn examination in the neurosurgical clinic, the patient had hyperaesthesia from the neck down, most prominent in the hands and groins. The patient had reduced grip strength of 3/5, finger extension and abduction of 3/5, wrist flexion and extension of 3/5, elbow flexion of 4+/5, elbow extension of 4/5 and shoulder abduction of 4+/5 on the Medical Research Council power scale. Hip flexion was 3/5, with all other muscle groups in the lower limb at 4+/5. The patient had very brisk reflexes with pathological spreading in the upper and lower limbs. There was self-limiting clonus in the ankle bilaterally. Hoffmann’s and Babinski reflexes were positive bilaterally. There was a severe loss of coordination and balance. Gait was impaired; the patient required a frame to mobilise. The severity of the patient’s cervical myelopathy was scored as 1 (upper limb motor dysfunction) +3 (lower limb motor dysfunction) +1 (upper limb sensory dysfunction) +1 (sphincter dysfunction) =6 (severe myelopathy) on the modified Japanese Orthopaedic Association scale (mJOA).
A 30-year-old male presented with a painless swelling on the left base of the tongue surface, first noted 3 months back. The mass was slowly progressing in size. There were no other associated symptoms. Clinical examination revealed a nontender swelling on the left posterior part of tongue. The mass was firm in consistency, oval in shape, and had an intact mucosal covering, not associated with ulceration, and was not attached to any underlying tissue. Neck examination revealed palpable ipsilateral submandibular and jugulodigastric lymph nodes. A clinical diagnosis of hemangioma was suspected. CT angiogram revealed a left sided highly vascular lesion. Three months later, the patient came back with symptomatic dysphagia, chewing difficulty, and difficulty in breathing especially while sleeping, and CT scan showed a slight increase in the size of the mass.\nSince the possibility of tongue cancer could not be ruled out in the presence of alarming compressive symptoms, incisional biopsy was planned. During the procedure, a significant bleeding was encountered which was difficult to be controlled with diathermy, local anesthesia, pressure packing and surgicel. Thus, it was decided to abort the procedure after hemostasis was completely secured, and the patient was extubated without any complications. Following incisional biopsy, selective embolization of the left lingual artery achieved a near complete devascularization of the mass. Then the patient was sent back for lip-split, mandibulotomy for access and excision of the left tongue tumor. Suturing on the muscle and in the mucosa was performed with 2-0 Vicryl and 3-0 Vicryl and the defect was closed primarily. Postoperative period was unremarkable.\nThree weeks after excision of the tumor, radiological evaluation was performed using PET/Scan and neck MRI. PET/Scan showed a moderate hypermetabolism at the site of surgical site and at the level of 2A lymph nodes with no evidence of distant metastasis. Neck MRI showed postsurgical changes of the tongue with enhancing left upper cervical lymphadenopathy.\nFollowing the excision of the tumor, the specimen was sent to the Anatomic Pathology Department. Grossly, it was a cauliflower-like ulcerating mass lesion which was 4.8 cm in greatest dimension. Histopathological examination revealed a malignant neoplasm formed of large, polygonal cells with clear to lightly esinophilic cytoplasm and hyperchromatic nuclei arranged in a pseudoalveolar pattern with prominent capillary vasculature. Perineural invasion and extensive lymphovascular invasion were present. PAS-positive, diastase resistant intracytoplasmic granules were present (Figure ).\nImmunohistochemical studies ruled out mimickers (Figure ). Tumor cells were negative for Desmin, SMA, S100, CD34, Myo-D1, Myogenin, PAN CK, Synaptophysin, Chromogranin, CD56, Melan A, and HMB45. A diagnosis of primary lingual Alveolar Soft Part Sarcoma was confirmed. Molecular studies were performed. Interestingly, FISH analysis molecular analysis was negative for TFE3 rearrangement. Therefore, a variant TFE3 fusion type or a fusion involving a related gene such as TFEB were suspected.\nAs the histopathology report showed involved surgical margin, patient agreed to have further resection of the lesion through partial glossectomy. Further excision revealed multiple residual foci of ASPS and a close deep resection margin. Left hemiglossectomy plus reconstruction of the left side of the tongue and the floor of the mouth with radial forearm free flap were performed. Adjuvant radiotherapy was completed 4 months postoperatively. A follow up period of 1 year was unremarkable except for multiple bilateral lung micronodules that remained unchanged on successive evaluation with chest imaging. Patient was stable and fully able to perform daily activities without restriction.
GN was a 5-month-old female patient at the time of her initial presentation to our clinic. She was a product of a nonconsanguineous union and born at 44 weeks via vaginal delivery. She had two older deceased male siblings, and it is unknown if these two brothers shared the same father. The oldest brother passed away at the age of 3 months of a suspected unspecified infection. Two weeks prior to the patient's initial presentation to us, her second brother passed away from sepsis at the age of five years. This brother was confirmed to have X-linked CGD at an outside institution where he was unfortunately lost to follow-up. The mother said that she was tested at the outside institution as well and was found to be a carrier for the same pathogenic mutation. She denied a personal history of significant or life-threatening infections or history of autoimmunity.\nAt the age of 2 months, GN started to develop recurrent oral ulcers. She also had a chronic waxing and waning rash on her face and extremities. The rash would flare after receiving vaccines and during bouts of viral respiratory tract infections. The patient had one episode of coxsackie virus and no history of bacterial or fungal infections. She had recurrent oral mucosal erosions, a violaceous periorbital rash, and malar edematous erythematous patches and plaques. Serial infectious workup of the oral lesions was negative. A skin biopsy showed an interface dermatitis with a primarily lymphocytic infiltrate at the dermoepidermal junction with perivascular involvement. Most of the cells in the infiltrate expressed CD68 and myeloperoxidase, features of immature myeloid cells. This was a primarily T-cell infiltrate as most cells were CD3+, and there were few CD20 + cells. The skin biopsy was negative for bacteria, acid fast bacilli, and fungi. Her oral and cutaneous lesions responded to fluocinonide 0.05% gel (mouth) and fluocinonide ointment to affected areas of skin. Interestingly, GN's recently deceased brother had a similar rash on his face and his skin biopsy identified interface dermatitis with a mild granulomatous infiltrate.\nGenetic testing confirmed the patient to be a heterozygous carrier of the pathogenic CYBB p.Ile248AsnfsX36 variant. She also had a CYBA mutation p.Glu135Lys of uncertain significance. Her neutrophil oxidative burst was initially 46% but normalized to 99% when rechecked.\nGN also had intermittent neutropenia with a nadir of 600 K/μL. Anti-neutrophil IgM was weakly positive. Over time, the neutrophil count trended up and stabilized at 1.4 K–2.2 K/μL. A bone marrow biopsy was considered but declined by the parent. She did not have hypocomplementemia, and aside for a mildly positive ANA (40 units, homogenous pattern) and a proteinase 3 (PR3) antibody positive at 1.2 AI (0–0.9), the remainder of her rheumatologic workup was negative including ds-DNA, aldolase, SSA/Ro, and SSB/La.\nLN, GN's brother, presented for evaluation two weeks after birth for genetic testing due to the significant family history. The DHR oxidative burst was 6%, and he tested positive for the same pathogenic CYBB variant as his sister. The patient was started on prophylactic antimicrobial agents with trimethoprim/sulfamethoxazole and voriconazole, which was then changed to itraconazole, as well as interferon gamma-1b. The serum level of the antifungal prophylactic agent continued to be subtherapeutic despite loading and weight-appropriate dosing, likely secondary to medication noncompliance. Despite the early referral for HSCT and counseling, the parent declined to pursue this curative option before 12 months of age. LN's maternal grandmother requested to have genetic testing be done for her as well in the hopes that she can serve as his bone marrow donor. Interestingly, she was found to not have the CYBB mutation implying that the patient's mother had a de novo pathogenic CYBB mutation.\nThe patient had a complicated infectious history with several bouts of pubic cutaneous lesions that grew Klebsiella pneumonia, MDR Enterobacter asburiae, and Serratia marcescens. He had a bout of unilateral bacterial conjunctivitis that was positive for Serratia marcescens and Neisseria sicca/subflava. LN also experienced recurrent Clostridium difficile colitis. His pretransplant course was further complicated by ESBL Klebsiella pneumonia, Enterobacter cloacae sepsis, and Klebsiella bacteremia. He was started on hydroxyurea and azathioprine in preparation for transplant, but this regimen was discontinued due to Candida Parapsilosis bacteremia. He commenced cytoreduction therapy with busulfan, melphalan, fludarabine, and ATG and received a T-cell depleted unrelated 9/10 matched HSCT at 19 months of age. He obtained 100% donor chimerism with a normalized oxidative burst and discharged with outpatient follow-up.
A 55-year-old female with no significant past medical history initially presented in 2006 with vague abdominal pain. Her past social history was negative for alcoholism or smoking. Work up of the patient including physical examination and laboratory indices were all normal. A multi-detector CT of the abdomen and pelvis utilizing a pancreatic mass protocol (arterial, portal venous and delayed phases) was performed which revealed a diffusely enlarged pancreas with extensive parenchymal calcifications (). No discrete mass was identified in the pancreas. Minimal pancreatic ductal dilatation was noted on the CT examination. The patient was diagnosed with chronic pancreatitis and followed clinically for several years. In 2015, the patient presented with recurrent abdominal pain. A CT of the abdomen and pelvis with pancreatic mass protocol was repeated (), which revealed new hypoattenuating masses in the pancreatic neck and tail. Some of the smaller tumours were hypervascular on the arterial phase imaging. There was redemonstration of extensive parenchymal calcifications. No pancreatic atrophy was identified. The pancreatic duct remained minimally dilated. Given the new masses many of which were arterially enhancing, the possibility of neuroendocrine tumour was raised. A MRI of the abdomen with pancreatic mass protocol (T2 with fat saturation, MRCP, in and out of phase T1 and unenhanced T1/arterial/portal/ 5 min delayed post-contrast T1) was performed (). The MRI confirmed multiple well-circumscribed masses throughout the pancreas, many of which had increased T2 signal with cystic change. The pancreatic duct was at most mildly prominent, and no lesions were identified outside of the pancreas. The largest pancreatic mass in the tail measured approximately 3.5 cm, with peripheral enhancement and central hypointense signal (). An endoscopic ultrasound was performed, which confirmed a hypoechoic mass in the tail of the pancreas, two isoechoic masses in the head of the pancreas, and diffuse parenchymal calcifications suggestive of chronic pancreatitis. Fine needle aspiration of the pancreatic masses in the head was performed, with cytology returning as concerning for neuroendocrine tumour. Given the suspicion for pancreatic neuroendocrine tumour, an indium-111 Octreotide scan was requested for further characterization. Fused SPECT-CT imaging was also performed for improved uptake localization (). The indium-111 scan revealed diffuse intense uptake of radiotracer throughout the entire pancreas. No extrapancreatic foci of uptake was identified. On the grounds of the clinical and imaging findings, it was decided the best course of action would be to perform a pylorus-preserving pancreaticoduodenectomy with total resection of the pancreas, splenectomy and cholecystectomy. Sectioning of the pancreas revealed numerous well-circumscribed, solid and tumoural masses ranging from minute up to the largest grossly identified lesion measuring 3.5 cm in diameter (). Many of the nodules were coalescing with only a scant amount of intervening normal pancreatic parenchyma present. The cut surfaces of the nodular masses were solid and showed a variegated pink to orange-red colour. No gross areas of necrosis were identified. Numerous representative histologic sections of the nodular masses were examined. The nodules were comprised of numerous insular nests and trabecular cords of fairly uniform epithelioid neoplastic cells with oval nuclei and speckled chromatin. Many of the nodules showed numerous calcifications and localized amyloid deposition (). Immunohistochemical stains were performed and the neoplastic cells marked strongly for the neuroendocrine markers chromogranin A and synaptophysin (). Multiple immunostains for pancreatic peptides were performed. The neoplastic cells were positive for pancreatic polypeptide and negative for insulin, glucagon and somatostatin. Only a rare mitotic figure was identified but the Ki-67 mitotic index marker was calculated at 5% as measured by the Aperio image analysis system. The findings were consistent with numerous neuroendocrine tumours of the pancreas, Grade II, as per the 2010 WHO criteria for neuroendocrine tumours of the pancreas. The neuroendocrine neoplastic nodules were all confined within the pancreatic parenchyma and all pancreatic resection margins were free of neoplasia. All regional lymph nodes sampled were negative for metastatic disease.
Patient 2: A 45-year-old male was found to have duodenal tumor by physical examination in Aug 2008. He was treated with partial duodenal resection together with tumor on Aug 19th, 2008 in a local hospital (Haining County People’s Hospital, Zhejiang Province). The tumor was 6 cm × 4 cm × 3 cm in size. Microscopical examination found non-mitotic, spindle cells with intersecting growth pattern. The tumor cells were positive for CD117 and CD34, but negative for α-SMA, desmin and S-100 by immunohistochemistry. He was diagnosed as GIST and classified into moderate risk level. The patient was not treated with any adjuvant therapy after the operation. Twelve months later, a solitary and localized abdominal tumor with 4 cm in diameter was detected in the left upper abdominal cavity in routine CT scanning. The patient was reluctant to treatment. Six months later, the tumor was increased to 8 cm. He was initially treated with imatinib (400 mg daily) on Mar 28th, 2010 since the first clinical impression was recurrence of GIST. But CT scan performed 3 months after initiation of imatinib therapy found the tumor size was increased and CT scan performed 6 months after initiation of imatinib therapy revealed significant progression of the left abdominal tumor: its size enlarged to 15 cm. At this point, the patient was referred to our hospital for further management. A multidisciplinary team (MDT) meeting was convened. Physical examination identified a huge palpable mass in the left middle abdominal cavity. Abdominal ultrasonography revealed a homogeneous low-echoic tumor of 15 cm in diameter. CT scan revealed a low-dense, homogeneous tumor, mainly involving mesentery and mesenteric veins and adjacent to jejunum and colon, the ureter was also entrapped in it (Figures and ). Angiography showed a hypovascular tumor encroaching on superior mesenteric artery and vein, and their branches. Urography found the tumor obstructing the upper part of the left ureter, causing left side hydronephrosis. Furthermore, the primary duodenal GIST (Figure ) was reevaluated as borderline nature and no KIT and PDGFRA mutation was found in the tumor. Therefore, a MDT decision was made to resect the lesion surgically. Prior to surgery, detailed examinations were performed. On Nov. 11th, 2010, the patient underwent exploratory laparotomy. The mesenteric tumor was successfully excised completely with adherent tissues and organs. Laparotomy revealed a hard tumor of 15 cm which appeared to originate from jejunal mesentery, involving proximal jejunum and the descending colon. The tumor also invaded and entrapped a segment of the upper part of ureter. The involved parts of jejunum and the tumor-bearing jejunal mesentery were resected en bloc along with the affected part of the mesocolon and the left kidney and the ureter. Grossly, the mass was resected with adequate margins and measured as 17 cm × 13 cm × 11cm. On section, the tumor was white and firm mass without necrosis, cystic change and hemorrhage (Figure ). Microscopic examination of the tumor showed that non-dysplastic fibroblasts proliferating in the jejunal mesentery had infiltrated into the adjacent small intestine and ureter (Figure ). The tumor cells were negative for CD117, S100, CD34, a-SMA and desmin. Therefore, the lesion was diagnosed as a mesenteric IAF. The postoperative course was uneventful without adjuvant therapy and no local recurrence has been noted as of October 2012.
A 32-year-old woman in her first pregnancy presented at 37 weeks gestation to the obstetric review centre in the late evening with a two-hour history of new onset right-sided leg pain and numbness. She was able to mobilise short distances and was otherwise well. Initially her symptoms were most suggestive of sciatica, a common complaint during pregnancy.\nHer symptoms progressed rapidly over the next two hours and she reported bilateral lower limb numbness and severe shooting midthoracic back pain and was unable to move her legs. Initially she had no urinary retention or faecal incontinence. She also reported no history of trauma or any similar symptoms in the past.\nShe had an otherwise low risk pregnancy and there were no signs of fetal distress on arrival. Her past medical history included asthma, allergic rhinoconjunctivitis, and depression. She was a smoker and migrated to Australia from England several years earlier.\nOn initial examination, vital signs were normal. She was afebrile. Cardiotocograph revealed no concerns for fetal wellbeing. Her neurological examination was inconsistent but nevertheless concerning. She was found to have patchy bilateral sensory loss up to a sensory level of T10. Lower limb examination revealed reduced power bilaterally (1-2/5) across all myotomes with hyperreflexia, clonus, and upgoing plantar reflexes. Upper limb neurological examination was normal. There was no bony tenderness on palpation of her spine. Insertion of a urinary catheter five hours after presentation drained 700 ml of urine. This was suggestive of urinary retention, particularly in the context of her advanced gestation. However, she reported normal perineal sensation on catheter insertion, again inconsistent with her other symptoms and examination findings.\nDue to her pregnant state, an urgent CT was not performed. An after hours MRI was not considered necessary as it was felt an acute surgical cause for the presenting signs and symptoms was unlikely. A kidney ultrasound ruled out renal stones as a cause for severe back pain.\nThe next morning an MRI spine was performed. This revealed a previously undiagnosed mixed intra- and perimedullary spinal cord AVM at T8 with surrounding spinal cord oedema from T6-T11 (see ). Her case was discussed with the neurosurgical team who felt she was not amenable to urgent surgical decompression or intervention based on MRI findings. A decision was made for urgent delivery to facilitate further investigation. A healthy baby girl was delivered that afternoon via caesarean under general anaesthetic. This was performed without complications.\nSubsequent angiography showed a predominantly perimedullary slow flow spinal cord AVM with intramedullary extension at T8 to a compact nidus (see ). The AVM received arterial supply from the radicular branches of the right T9 intercostal artery with a branch to the anterior spinal artery from the same level. The venous drainage of the AVM was via a single caudal draining vein that extended to the left internal iliac vein with attenuation at L5/S1.\nIn discussion between the radiology and neurosurgical teams, it was concluded the most likely aetiology for the patient's presentation was acute rupture of the AVM at T8 secondary to venous outflow compression from the enlarged uterus onto the draining vein at the level of L5 causing high pressure within the AVM and subsequent rupture. Given the lesion was partially within the spinal cord, treatment with surgical resection would risk potential permanent paraplegia. Additionally, she was considered not a good candidate for embolisation. As such, the patient was managed conservatively in the hope that she might have at least partial recovery of her neurological function. An inferior vena cava (IVC) filter was inserted at the time of initial angiography to prevent pulmonary emboli given the relative risk of anticoagulation in the setting of recent caesarean section and recent AVM rupture.\nOne month after admission, the patient developed left leg swelling and was diagnosed with a left leg extensive occlusive deep vein thrombosis extending to left external and common iliac vein as far as the IVC filter. There was concern about potential obstruction of venous outflow from the AVM precipitating further rupture as well as potential clot propagation above the IVC filter, so a decision was made for mechanical thrombectomy and removal of IVC filter. She was therapeutically anticoagulated on warfarin with clexane bridging and clot progression was monitored on weekly ultrasound scans.\nGiven the difficulties in finding a suitable discharge destination with a newborn baby, the patient's first few months of rehabilitation were as an inpatient in a private room on the neurosurgery ward. At the time of writing this article (six months after delivery), the patient remains paraplegic to the level of T8 with urinary and bowel incontinence. At this stage, she has a guarded prognosis for recovery.
In Case 1, a 79-year-old Korean female patient with Fitzpatrick skin type III visited our institution with a complaint of multiple, variable sized skin lesions with itching sensation on the face and the left hand. The lesions were located on bilateral posterior auricular areas, forehead, right cheek, left temple and left hand, and they could be classified into nodular, superficial, pigmented and morphoeic variants and had gradually increased in size over approximately 10 years (). The patient had previously received surgical excision for BCC on the right posterior auricular area at another hospital 7 years ago. Also 1 year ago, she had received surgical excision for a single BCC lesion on the lower lip. The patient was engaged in agriculture and was constantly exposed to direct sunlight for most of her lifetime. She denied any family history of skin cancer, past history of cryotherapy or radiotherapy, exposure to chemical substances including arsenic, dry ice, and she showed no regional lymphadenopathy. The whole body bone scan for systemic metastases revealed no distant metastasis and punch biopsies depicted findings consistent with Bowenoid actinic keratosis. The lesion in the right posterior auricular area was particularly large in size and magnetic resonance imaging scan showed that it was in direct contact with the parotid gland (). All tumors were completely removed with Mohs micrographic surgery (MMS), except for the lesion in the right posterior auricular area, for which wide excision with partial parotidectomy using a fasciocutaneous advancement flap was employed (), as BCCs located in the periauricular embryonic fusion planes have an increased risk of metastasis []. The pathologic results showed lesions consistent with BCC and some lesions consistent with actinic keratosis. Strands of BCC are directly adhered to the parotid gland, and extend to the parotid tissue located at the left bottom of the photograph (). In cases of recurrence of BCC in pre-auricular or postauricular skin, it is very likely that the lesion has invaded the parotid gland []. To make diagnostic confirm for parotid invasion, the patient was consulted by the specialists of multidisciplinary care system and clinically confirmed as parotid invasion of BCC. After 8 months, the patient complained of skin lesions in bilateral temporal areas and left cheek area. Surgical excision of the lesions was performed to obtain negative margins, and the biopsy results were squamous cell carcinoma in situ and actinic keratosis. During the 18-month follow-up period, there were no complications or recurrences.\nIn Case 2, a 43-year-old Korean woman visited our institution with a complaint of multiple, variable sized skin lesions with itching sensation on the face, scalp, right chest, abdomen and right leg (). The lesions could be classified into nodular, superficial, pigmented and morphoeic variants. She denied any family history of skin cancer, past history of cryotherapy or radiotherapy, exposure to chemical substances including arsenic, dry ice, and she showed no regional lymphadenopathy. All tumors were completely removed with MMS, in which wide excision using a fasciocutaneous advancement flap, split-thickness skin graft, and a local flap were employed. All lesions were completely resected by MMS and wide excision, and they were covered with a fasciocutaneous advancement flap and a split-thickness skin graft. Pathologic evaluation confirmed the diagnosis of BCC. Only the abdominal lesion was classified as Stage II, and other lesions were classified as Stage I.
A 59-year-old white female with chronic hepatitis C presented to our endoscopy suite for a percutaneous liver biopsy. The patient had been diagnosed with hepatitis C virus genotype 1a 5 years prior and had initially been treated with a 48-week course of pegylated interferon alfa-2a (Pegasys; Genentech USA, Inc.) and ribavirin. Unfortunately she had relapsed within 6 months of stopping antiviral therapy. A percutaneous liver biopsy at that time had demonstrated active chronic hepatitis. The patient had failed a second course of antiviral therapy with pegylated interferon and ribavirin. She had subsequently developed diffuse arthralgias attributed to hepatitis C virus-related cryoglobulinemia. After discussing the risks and benefits of protease inhibitor-based antiviral therapy, the decision was made to perform a surveillance percutaneous liver biopsy for restaging of her disease.\nThe patient's home medications included valsartan 160 mg daily for hypertension, lansoprazole 30 mg every morning for dyspepsia, simvastatin 10 mg daily for hyperlipidemia, and lorazepam as needed for anxiety. She was also taking trazodone 100 mg at bedtime for insomnia and duloxetine 60 mg daily for depression. She reported stable control of her symptoms with these medications for several years without any adverse drug interactions. She had medication allergies to sulfa-containing compounds, acetaminophen and erythromycin. Before the procedure the patient was without any noted complaint. She was afebrile with normal vital signs (blood pressure of 120/78 mm Hg and pulse of 71 beats per minute). A percutaneous liver biopsy was performed without immediate complication using sterile technique and ultrasound guidance. The patient's vital signs remained stable during the procedure, and she was sent to the recovery suite for continued observation.\nApproximately 10 min post-procedure, the patient developed intense right-sided abdominal and chest pain. On re-evaluation, her cardiopulmonary and abdominal examinations were benign. Chest radiography showed no evidence of pneumothorax or free air, and laboratory testing was unremarkable for acute anemia, renal insufficiency, acidemia or transaminitis. She was medicated with 50 μg of intravenous fentanyl, which did not alleviate her pain. She was then administered an additional 50 μg of fentanyl divided in two separate doses. Approximately 5 min after receiving the fentanyl the patient became agitated, diaphoretic and hypertensive. She displayed pressured speech and was in a moderate amount of distress. She was breathing spontaneously at 25 breaths per minute with a blood pressure of 198/106 mm Hg, a pulse of 82 beats per minute and an oxygen saturation of 98% on room air. Serial physical examination revealed profound flushing, diaphoresis, a soft abdomen with increased bowel sounds and mild rigidity in all four extremities. 2 mg of intravenous lorazepam was administered with marked improvement in her vital signs and symptoms. She was admitted to the medical intensive care unit for close observation where she was made nil per os, and computed tomography imaging of her chest, abdomen and pelvis demonstrated no complications from the biopsy. She received intravenous fluids, anxiolytics and pain control with hydromorphone with good effect.\nThe patient remained afebrile during her brief hospital stay, with gradual resolution of her agitated state and widespread pain within 24 h. Her blood pressures demonstrated improvement, but did not return to baseline. She was resumed on valsartan and tolerated advancement of her diet. Although no specific etiology for her abdominal and chest pain was found, review of the patient's medications suggested a possible interaction between the recently administered fentanyl and her antidepressants duloxetine and trazodone. Considering the presentation, a diagnosis of serotonin syndrome was made, and fentanyl was added to her medication allergy list. Since her depression and insomnia had been stable on duloxetine and trazodone without any previous adverse interactions, she was discharged from the hospital with instructions to restart these antidepressants. The patient was seen in follow-up 1 week after her hospital discharge and her physical exam revealed normal vital signs and no neurologic findings. Her liver biopsy results eventually showed mild inflammatory activity with fibrosis.
A term female infant was delivered by a 39 year old woman in a peripheral hospital after an uncomplicated 3rd pregnancy with 41 week of gestational age. Delivery was assisted by vacuum extraction. Apgar score was 8/9/10 after 1/5/10 minutes respectively, and the infant had a birth weight of 2920 g (8th percentile), a length of 50 cm (20th percentile), and a head circumference of 35 cm (50th percentile). The postnatal physical examination showed grouped pustular lesions and annular erythema, partly with central lightening, yellowish crusted plaques or slight scaling on the skin, exclusively in the face and on the forehead (Figure ). The rest of the integument and the mucosa were inconspicuous. The child was transferred to a neonatal tertiary care center under the tentative diagnosis of a herpes simplex virus (HSV) infection, and antiviral therapy with aciclovir was promptly initiated. About six hours postnatal, the baby developed focal clonic seizures of the right arm. An electroencephalogram showed focal temporo-parieto-occipital changes over the left hemisphere with low amplitude, slight increase of slow waves and a reduced basic activity. Further, intermittent short-term focal rhythmic parietal theta activity on the left as well as rhythmic occipital delta activity on the left could be detected while no typical epileptic discharges occured. A lumbar puncture showed no sign of infection, with a normal protein and white blood count. In particular, HSV-PCR was negative. Anticonvulsive therapy with phenobarbital was initiated but seizures could only be controlled after adding phenytoin. A diffusion- weighted magnetic resonance imaging was performed on the 3rd day of life, revealing multiple ischemic brain areas in the distribution of the middle and posterior cerebral artery on the left side (Figure A-C).\nNo evidence of sinus venous thrombosis was found. Thrombocytopenia (minimal 91000/μl) was present, and coagulation blood test showed evidence of an increased fibrinolysis and normal plasmatic inhibitors of coagulation, normal antithrombin III (56%) and protein S (58%) but low protein C (22%). Therapy with low molecular weight heparin was started. Echocardiogram revealed no structural abnormalities, and an inconspicuous electrocardiogram with a normal PQ interval and QRS complex was analyzed. Central and peripheral bleeding spots were found in the ocular fundus, most likely caused by trauma during birth. Renal function test, albumin, transaminases, bilirubin and calcium were normal. A smear of the grouped pustular lesions in the face showed no infection with staphylococcus. But a biopsy of the affected skin showed evidence of cytoid bodies compatible with an interface dermatitis. Serological studies of the infant detected maternal HSV and varicella zoster virus (VZV) specific IgG antibodies, IgM and a HSV-PCR of a swab of a skin lesion were negative. However, antinuclear antibodies (ANA), anti-U1-snRNP antibodies and anti-Sm antibodies were present, while antiphospholipid, anti-Scl 70, SSA/Ro, SSB/La, anti-Tm, anti-Jo-1 and anti-ds DNA antibodies could not be detected. Test results of the asymptomatic mother revealed the same autoantibody pattern.\nFour weeks postpartum, the mother developed bilateral erythema on the face and both forearms, muscle weakness of both arms, a Raynaud’s phenomenon, arthralgia in hands and swollen fingers. She was subsequently diagnosed with mixed connective tissue disease (MCTD), since she exhibited three typical clinical symptoms (swollen fingers, muscle weakness, Raynaud’s phenomenon), and one of the possible antibody constellations (ANA, anti-U1-snRNP and anti-Sm antibodies), both characteristic signs and symptoms of the disease [,]. There had been no occurrence of symptoms of rheumatic diseases in the infant’s siblings, a seventeen years old sister and a seven years old brother. Further questioning of the mother revealed that about six weeks after the second delivery, transient arthralgia occurred, which responded to oral steroids. No diagnosis was made at that time.\nThe newborn infant was discharged on his 16th postnatal day, the lesions were healing (in parts showing scars as residual lesions), and until reassessment at the age of 10 weeks with phenobarbital and low molecular weight heparin as medical therapy displayed no symptoms; he was consequently carefully weaned off medication. A transcranial duplex ultrasound after 4 weeks of birth showed a normal cerebral artery blood flow in all areas of the brain. A follow-up MRI of the brain (Figure D-F) at the age of 32 months showed postischemic defects with involvement of the gyrus supramarginalis and the peripheral visual cortex. The rest of the brain showed age-appropriate myelinization and no further over lesions. At the age of 6 years there were no signs of cerebral palsy, seizures or amblyopia but language development was delayed and complicated by a speech disorder. Other cognitive development as tested by the Snijders-Oomen non-verbal intelligence test was in the lower norm and a somatic retardation with dystrophy and microcephaly was diagnosed.\nIn summary, we describe a newborn infant who had cutaneous manifestations and the antibody pattern of neonatal lupus erythematosus (NLE), complicated by neurological symptoms.
The patient is a nine-month-old Maine Coon male (7 kg) which fell from the 4th floor. This initial trauma ruptured the patellar tendon at the middistance between the patella and its tibial tuberosity. The cat first had a tendon suture without external fixation one week after the trauma. The suture finally loosened 2 weeks postoperatively, and the cat had a one-month cage rest. It was, then, received for a second opinion 6 weeks postoperatively. The cat was still limping, and the orthopedic examination revealed weak weight-bearing and a loose patellar tendon. A tendinoplasty was decided in the last intention after the failure of the previous treatment. A cutaneous medial incision was made at the stifle level, followed by a bilateral parapatellar incision of the fascia. An arthrotomy was performed to release the adhesions and assess the position of the patella. Fibrous scar tissue was excised. The half thickness of the tendon was then incised longitudinally from the patella to the musculotendinous junction of the quadriceps. The implant was sandwiched inside the patellar tendon and sutured. A 3.0 mm oblique bone tunnel was drilled through the tibial tuberosity with a caudomediodistal exit. Owing to the small size of the bone, a second perpendicular tunnel was not drilled. The implant was inserted into the tunnel. The stifle was placed in extension, and the tendon was stretched. The implant was temporarily secured with a Kocher clamp to test the resistance during the tibial compression test in extension and 90° flexion. A full range of motion was also tested. The position of the patella was adjusted under direct visualization through the lateral arthrotomy, aiming to achieve correct positioning in the trochlear groove. Needles positioned at the proximal and distal ends of the patella were also used as visual markers. The tension was adjusted before fixation in the tunnel in order to obtain an appropriate standing angle of the stifle and avoid patella alta or baja []. A 4.0 mm interference screw was inserted in the oblique tunnel. After fixation, the distal part of the patellar tendon was found to be in excess. This excess of tissue was mainly composed of fibrous tissue and was used to cover the implant at the proximal end of the patella with a Kessler suture. The soft tissue and skin were closed routinely. A splinted dressing was applied for 6 weeks to maintain the stifle in an extended position, with a change of dressing at 2 weeks.\nWhen the splinted dressing was removed at 6 weeks, the cat immediately used its hind limb with apparent good weight-bearing and grade II/V lameness. During the 8 weeks following tendon reconstruction, no complication was recorded. The orthopedic examination at 8 weeks revealed a good position of the patella. With the stifle held in extension, the tarsal flexion angle was similar between the two hind limbs. Gait analysis showed a visual symmetric stance phase on both hind limbs and a symmetric carriage at rest in a standing position. Manipulation was pain-free with a full range of motion. Muscle atrophy was still present at this point. The stifle radiography showed a satisfactory implant position, with no patella alta (). The last orthopedic examination at 6 months revealed no anatomic or functional difference between the two hind limbs. According to the owner, the cat was able to jump on a table at 2 months postoperatively. The recovery was considered excellent both from the veterinary point of view and the owner's opinion.
A 22-year-old woman presented with intense pain in the shoulders that began 2 weeks after injury during a CrossFit competition, especially on the right side, without edema or reduced range of motion. She started the CrossFit practice routine 2 months before the injury. The patient trained CrossFit three times a week without any other sport activity on the remaining week days. Olympic weightlifting (overhead movement) was described as the last activity before the acute pain started. The initial overhead load was 55 pounds and was part of a “novice” training routine with reported adequate technique. One week prior to the CrossFit competition the patient was oriented to increase the Olympic weightlifting load to 75 pounds as a requirement for competition. Repetitions were set to her own limitation. After the injury, she stopped her exercises and applied ice to the shoulders and upper arms. During the following days, she experienced continuous pain and sought medical attention. Physical examination did not show any reduction of passive and active arcs of movements. Also, Jobe and Bear Hug tests were negative. There was only a mild ligamentous laxity and 10 degrees of elbow hyperextension. Her medical history did not include medications, prior fractures, neoplastic disease or prior surgery on the upper extremities. Also, she did not have history of anabolic or glucocorticoid steroid use. The patient’s height was 1.53 m and weighted 54 Kg, with a BMI of 22.9 and was physically active for more than 3 years. She has never had CrossFit lessons or prior training. Before she started CrossFit practice, the patient used to swim three times a week in college, but did not participate in competitions. The patient had an episode of amenorrhea 3 years ago, considered to be due to weight loss, probably due to intense training and reduced caloric intake. Laboratory tests and densitometry were performed in the same period of the imaging studies and showed normal mineral bone density and Vitamin D insufficiency (serum Vitamin D of 24.8 ng/mL). During the two initial weeks of the patient’s bilateral upper limb pain, she attributed the symptoms to “overtraining” but she sought medical attention when the pain became progressively worse. The patient did not refer any specific diet, nutritional supplementation or reduced caloric intake during the time of the shoulder lesion.\nRadiographs of the shoulders were performed 1 week after onset of symptoms.\nThese were interpreted as normal, showing no evidence of bone lesion, fracture line, arthritis, or periosteal bone formation. However, small and incomplete fracture lines may not be seen on early radiographs. At that time, the patient was presumed to have bilateral impingement syndrome. MRI of the shoulders were performed 2 weeks after the onset of symptoms (Figs. and ) to exclude other causes of shoulder pain such as rotator cuff injuries, bursitis, bone marrow edema and small fractures The MR images of the right shoulder showed extensive bone marrow edema throughout the right humeral medullary cavity. In addition to marrow edema, there was an incomplete transverse fracture line adjacent to the medial cortex of the surgical neck and mild soft tissue edema (Fig. ). Further, there was an intense edema of the subscapularis muscle, with scattered pattern suggesting overload injury probably related to delayed onset of muscle soreness (DOMS), without tears. (Figs. and ) On the left side the findings were less prominent, and similarly showed bone marrow edema of the proximal humerus, without a defined fracture line, considered to be the result of joint / bone overload (Fig. ). Additionally, there was a mild edema of the subscapularis muscle, without tears (Fig. ).\nThe patient was treated nonoperatively with activity modification, without immobilization. She received oral non-steroid anti-inflammatory drugs for 5 days and 20 physiotherapy sessions for analgesia, stretching and strengthening of the rotator cuff and deltoid. Also, the patient had vitamin D reposition with 7000 IU twice a week in the first month, with 7000 IU weekly as maintenance. One month later the patient was asymptomatic and 3 months later she resumed CrossFit training against medical advice not to return to sports without follow-up imaging.\nFollow-up MRI was done 4 months after the initial studies and showed complete resolution of bone edema and consolidation of the transverse fracture line on the right proximal humeral diaphysis. Also, there was complete resolution of bone marrow edema on the left humerus, and no visible bilateral subscapularis muscle edema or tear (Figs. , , , ). After 6 months of follow-up the patient was asymptomatic.
We present the case of a 60-year-old woman with a history of dyslipidemia, irritable bowel syndrome, and an asymptomatic uterine leiomyoma managed with clinical surveillance by general gynecology consultations. She had no prior history of surgery, and, apart from an aunt with postmenopausal breast cancer, had no family history of gynecological cancer. Her menarche was at 13 years and her menopause was at 50 years.\nThe patient’s annual follow-up gynecology consultations for leiomyoma growth control had been normal until October 2015. At this time, she presented to the emergency department with postmenopausal bleeding and at physical examination a small friable vaginal cyst on the anterior vaginal wall that bled when touched was identified. The cyst appeared to be the cause of the patient’s postmenopausal bleeding, although postmenopausal uterine bleeding could not be completely excluded. A gynecological physical exam was not possible because the bleeding, size and location of the cyst. Following initial examination, the patient was referred to Cervical Pathology Consults for further evaluation.\nA pelvic examination performed as part of the cervical pathology consultation confirmed the presence of a 1.5 cm diameter cyst on the medial line of the anterior vaginal wall, 2–3 cm from the urethral meatus. Palpation of the cyst indicated that it was a rough, mobile, spherical mass with a distinct hardness and a friable surface that bled when touched. Surgical excision was recommended. In December 2015, a partial cystectomy was performed. Given the proximity of the cyst to the urethra, it was not possible to fully dissect its capsule and a complete cyst excision could not be achieved. During the intervention, the cyst ruptured and released cystic and solid components with malignant-like appearances.\nHistopathological examination indicated an epithelioid neoplastic proliferation, with anaplastic forms, nuclear pleomorphism, and a high mitotic rate, that had infiltrated the large vessels. Immunohistochemistry showed positive staining for vimentin and CD10, but no cytokeratin (AE1-AE3, K903), hormone receptor (estrogen and progesterone), melanocyte marker (S200, Melan-A), vascular marker (CD31, CD34), Fli- 1, CD45, PGM-1, or alpha-inhibin expression. The histopathological diagnosis was an unclassifiable malignant epithelioid tumor; carcinoma and melanoma were excluded by the immunochemical analysis.\nA cystoscopy and positron emission tomography-computed tomography (PET-CT) were performed to determine whether the urethra was affected. The cystoscopic findings were normal. PET-CT indicated a malignant tumor that affected the uterine lower posterior-lateral left wall and Douglas pouch. A second metabolically active pathological lesion, which was suggestive of malignancy, was identified on the posterior wall and upper uterine segment. There were no signs of lymphatic locoregional or distant disease (Fig. ). A 3D ultrasound and a hysteroscopic evaluation were planned to exclude any concomitant uterine pathology.\nA transvaginal ultrasound demonstrated a 50-mm heterogeneous hyperechoic mass with undefined margins, which was similar to that observed with cervical neoplasms. The mass extended from the posterior cervical lip to the uterus. The presentation was atypical in that the mass was elongated in appearance. Two benign leiomyomas of 50-mm and 30-mm were also identified on the anterior uterine wall.\nA magnetic resonance imaging scan was subsequently performed. This showed the previously identified leiomyomas and a posterior right lateral 50 × 35.5 × 20-mm mass that overlapped the myometrium. The mass extended to the uterine isthmus cervical junction. No anomalies of the cervix or bladder wall and no locoregional disease, implants, ascites, or pelvic or inguinal adenopathies were identified (Fig. ).\nThe hysteroscopic evaluation was not completed at the request of the patient, but a vaginoscopy enabled a further biopsy from the previous surgical site. The site continued to feel hard when palpated. Microscopic examination of the biopsy indicated a malignant proliferation that, similar to the previously removed vaginal cyst, only expressed vimentin and CD10 upon immunohistochemical analysis. These findings were inconclusive with regard to a histopathological diagnosis, but taken together with the radiological indication of a uterine body neoplasm, suggested that the patient had a secondary metastasis of a primary uterine tumor. Given the CD10+ immunohistochemistry results, this was thought to be an endometrial stromal sarcoma.\nAlthough tumor marker analysis was not performed at this point, other laboratory tests indicated that the patient’s results were within reference range.\nThe case was presented at the Oncological Committee Meeting and a radical surgery approach, consisting of an anterior pelvic extenteration (colpectomy, hysterectomy, bilateral adnexectomy, total cystectomy, and cutaneous ureteroileostomy ad modum Bricker), was proposed.\nSurgery was performed by laparotomy in March 2016. The immediate postoperative recovery was uneventful apart from anemia of 7.8 g/dL and oral candidiasis. 2 units of crossmatched compatible packed red blood cells and intravenous iron were transfused and an antifungal oral solution was prescribed. Surgical recovery was satisfactory and the patient was discharged on post-operative day 14 after being evaluated by the General Surgery, Urology, and Gynecology departments. Gross examination of the surgical specimen showed one 75 × 75-mm leiomyoma and two tumor lesions, one on the uterus and one at the vaginal level, with a leiomyosarcoma-compatible immunophenotype. The first tumor, which was 80 × 30 mm, was located on the posterior uterine aspect and extended from the uterine fundus to the lower segment, but it did not reach the cervix. It had completely infiltrated the myometrium, but not the uterine serosa (Fig. ). It was a friable infiltrating tumor that was tan/white upon sectioning, had many areas of necrosis, and showed signs of peripheral vascular invasion. Signs of vascular invasion, with tumor emboli, were identified on the left parametrium, anterior vaginal wall, and right adnexa. The second vaginal tumor was a 60 × 30-mm polypoid lesion with an ulcerated surface. It was located on the anterior vaginal wall, close to the urethral vaginal septum, but it did not reach the urothelial mucosa.\nHistological section analysis indicated that the uterine lesion showed mesenchymal proliferation with large thick-walled muscular vessels and cleft-like spaces. It was a cellular tumor with spindle cells, nuclear atypia, prominent irregular nucleoli, moderate anisonucleosis, an enlarged cytoplasm, and eosinophilia (Fig. ). A high mitotic rate (28 mitoses/10 high power fields [HPF]) was observed (Fig. ), and the adjacent myometrial vessels showed many tumor emboli (Fig. ).\nImmunochemical analysis of the uterine lesion showed intense staining for actin A1-A4, actin HHF35, and caldesmon (Fig. ). Intense nuclear and cytoplasmic p16 staining was noted (Fig. ), and p53 overexpression was observed in the vascular tumor emboli and in 70% of the peripheral tumor cells of the main lesion. An analysis of CD10 expression indicated heterogeneous moderate staining in the main tumor lesion and homogeneous intense staining in the tumor emboli (Fig. ) The tumor cells were negative for all of the other markers investigated (pan-keratin AE1-AE3, hormone receptors, alpha-inhibin, calretinin, Melan A, WT1). The proliferative index (MIB-1) was 70%.\nThe uterine histological findings, indicating nuclear atypia, coagulative tumor necrosis, and a high mitotic rate, and the immunophenotype results were consistent with a diagnosis of leiomyosarcoma.\nHistological analysis of the vaginal lesion showed a neoplastic formation with nuclear atypia, pleomorphism, and prominent nucleoli. A high mitotic rate (17 mitoses/10 HPF) and coagulative tumor necrosis were also observed (Fig. ). CD34 and CD31 staining indicated that the neoplasm was perivascular with intravascular growth, and CD45 staining indicated a dense inflammatory lymphoid component. Immunochemical analysis of the lesion indicated intense cytoplasmic CD10 and p16 staining (Fig. ), and low desmin and Melan-A staining. Staining was also negative for other markers, including actin, caldesmon, and collagen.\nConsidering all of the findings, we diagnosed a uterine mesenchymal high grade tumor and a vaginal metastasis with an leiomyosarcoma-compatible immunophenotype.\nThe case was presented at the Oncological Committee Meeting again and radiotherapy was rejected because of its low effectiveness in these cases. The patient was referred to a medical oncologist to commence adjuvant chemotherapy with docetaxel, gemcitabine, and doxorubicin, which was started in May 2016. In May 2016, the tumor markers, Ca125, Ca19.9, CEA, and Ca15.3, were all negative. A PET-CT scan performed on the same day showed no evidence of locoregional recurrence or distant metastasis.\nAt the point of writing, no toxic side effects of chemotherapy have been observed and treatment is being well tolerated. Follow-up oncological gynecology consultations have been satisfactory with no signs of relapse, disease free for 12 months. The patient showed a good surgical recovery and had only minor complaints regarding vaginal dryness, which were treated with a topical moisturizer.
A 75-year-old male patient was sent to our hospital suffering from left hip pain sustainedly after an accidental fall. Radiographic imaging revealed that this patient was affected by Crowe type IV DDH combined with an Evans type III intertrochanteric fracture of left femur (Fig. a). The patient reported a history of left hip trauma at the age of 10, at which time he did not accept proper treatment. The resultant left hip deformities had since caused the patient to walk with a limp. Prior to his fall, the patient was able to bear weight and work with moderate left hip pain. Physical examination revealed the left leg to be 4 cm shorter than the right leg, with local tenderness being detected in the left hip. In addition, percussive pain in the left femur in the axial direction and pain with internal and external rotation were noted. As passive activity caused serious pain, we were unable to measure the degrees of left hip motion. The patient had been diagnosed with hypertension for six years, and regularly took blood pressure control medications. Computed tomography scans revealed the high posterior dislocation of the left femoral head up to the level of the greater sciatic foramen(Fig. b). The original acetabulum was smaller and shallower (Fig. b). In order to better preoperatively evaluate the acetabulum and femur deformities in this patient, a 3D printed model was constructed (Fig. c).\nThe patient was offered two surgical options: THA or internal fixation to treat only the intertrochanteric fracture. After careful consideration and discussions with family members and the surgeon, the patient selected to undergo THA, and also provided informed consent for the publication of his case, which has not been reported previously to our knowledge.\nUnder general anesthesia, the patient was placed in the lateral decubitus position. The operation was performed via a posterior approach with an incision length of almost 20 cm. The external rotators were first detached, and then the femur neck was removed. After resection of the elongated hypertrophic joint capsule, the original acetabulum was clearly exposed and gradually reamed to 50 mm. Next, the 50 mm acetabular cup and a 28 mm polyethylene liner were placed in an appropriate anatomic arrangement with three screws. To clearly expose the proximal femoral canal, the femoral great trochanter fragment was overturned along the fracture line. Approximately 2 cm below the lesser trochanter, a 4 cm-long femoral shortening transverse osteotomy was performed by resecting the femur in accordance with preoperative planning. A modular S-rom femur stem was then installed from the level of intertrochanteric fracture end into the canal, and the femur was then de-rotated and the resected cylindric bone segment was cut longitudinally, after which these two pieces were bound onto the osteotomy site with wires. Equipped with 32 mm short metal head, the stem was easily reduced, after which the intertrochanteric fracture was reduced and stably fixed with steel wires.\nPostoperatively, the patient was administered intravenous antibiotics and prophylactic anti-thrombotic treatment. Three days postoperatively, the patient was encouraged to stand and to walk with the aid of a walker. Postoperative plain radiographic images revealed that the original rotational center of the hip was restored and that the inclination and anteversion of the cup had been restored (Fig. a, b). The patient completed baseline visual analog scale (VAS) score and modified Harris hip score (mHHS) assessments via retrospective questionnaire, and also completed these assessments at 3 and 6 and 10 months postoperatively. Both VAS and mHHS scores were significantly improved at these postoperative follow-up time points (Table ). Radiographic and computed tomography scans conducted upon most recent follow-up revealed that the prosthesis was properly positioned and the intertrochanteric fracture and subtrochanteric osteotomy had healed effectively (Figs. c, d, ). Leg length discrepancy (LLD) measurements through the full length weight bearing radiograph of lower extremities showed the left limb to be 1 cm shorter than the right limb(Fig. e). Even though there was a little heterotopic ossification occurred on greater trochanter of left femur,the patient almost felt no pain and could walk up and down stairs without any assistance.
A 59-year-old Tamil woman with a 10-year history of adequately controlled diabetes mellitus and hypertension presented with a gradually enlarging painless lump in the right inguinal region over a period of 8 months. It was not associated with constitutional symptoms such as fever, weight loss, or loss of appetite.\nOn examination, the lump was consistent with an enlarged, non-tender, firm inguinal lymph node that was not attached to the underlying structures. She did not have any other palpable lymph nodes or organomegaly. She was not pale or icteric.\nA contrast-enhanced computed tomography (CT) scan of her chest, abdomen, and pelvis showed mild hepatomegaly and intra-abdominal lymphadenopathy in addition to inguinal lymphadenopathy. Her complete blood count, liver functions, renal functions, inflammatory markers, and coagulation screen were within normal limits. Bone marrow aspiration and trephine biopsy were normal. An excisional biopsy of the enlarged lymph node showed evidence of Castleman disease of the plasma cell type with CD3 and Bcl-2 stained reactive pattern of follicles. She was treated with intravenously administered rituximab 375 mg/m2 weekly for 4 weeks. There was reduction in the size of her inguinal lymph nodes.\nSix months later, she developed gradually ascending numbness and weakness of her lower limbs. These symptoms progressed in a symmetrical manner without upper limb or sphincter involvement. An examination revealed flaccid paraparesis with a proximal power of grade 4/5 and distal power of grade 3/5 associated with diminished lower limb deep tendon reflexes. Plantar responses were bilaterally flexor. She had impaired pinprick sensation up to thoracic 9 (T9) level with intact joint position sense and normal anal sphincter tone. There were no obvious spinal deformities or tender areas along her spine. A neurological examination of her cranial nerves and upper limbs did not reveal any deficits.\nA nerve conduction study of her lower limbs diagnosed a moderately severe sensorimotor polyneuropathy with conduction slowing. Magnetic resonance imaging (MRI) of the thoracic and lumbosacral spine with gadolinium enhancement did not show compression of nerve roots or the thecal sac.\nA summary of our patient’s hematological and biochemical investigations are shown in Table .\nSerum protein electrophoresis showed a faint monoclonal band in the fast gamma region without immunoparesis. However, urine protein electrophoresis was within normal limits. Immunofixation of the monoclonal band was not performed at the time due to unavailability. Bone marrow aspiration and trephine biopsy showed a hypercellular marrow with 30% plasma cells. A rectal biopsy showed normal rectal mucosa with focal ulceration. Congo red stain on the rectal biopsy did not reveal any amyloid deposits. A repeat contrast-enhanced CT scan of her chest, abdomen, and pelvis showed mild hepatomegaly, pericardial effusion, generalized subcutaneous tissue edema, multiple intra-abdominal lymphadenopathy, and multiple sclerotic bony lesions involving the thoracic and lumbar vertebral bodies, sternum, anterior ribs, and sacrum. A repeat MRI of her thoracolumbar spine was performed with gadolinium enhancement which showed altered signal intensity in multiple cervical and lumbar vertebral bodies in both T1 and T2 MRI sequences without destruction or collapse.\nBased on the above findings, a diagnosis of POEMS syndrome was established. She was treated with six cycles of cyclophosphamide and dexamethasone, in addition to lower limb physiotherapy. Each 21-day cycle consisted of intravenously administered cyclophosphamide 750 mg/m2 infusion on day 1 and intravenously administered dexamethasone 40 mg daily on days 1 to 4.\nFollowing three cycles of treatment, she demonstrated a remarkable improvement in her neurological deficits with recovery of muscle power and sensation to near normal.
A 63-year-old Japanese woman was referred to our department because of an abnormal shadow at the left side of her chest wall on computed tomography. She had undergone total hysterectomy and radiotherapy for cervical carcinoma 4 years prior. One year after the first surgery, three metastatic lung nodules appeared at the upper lobe of her right lung, the lower lobe of her right lung, and the lower lobe of her left lung. Wedge resection for upper and lower lobe of her right lung was initially performed via three-port thoracoscopic surgery. Then, wedge resection for the lower lobe of her left lung was performed via eighth intercostal single incisional thoracoscopic surgery. After the surgery, an intrathoracic chest wall mass developed which increased in size gradually. Her gynecologist introduced her to our department for surgical resection of the mass. Her family, including her parents and two sisters, had been healthy and had no inheritable diseases. She had no symptom, drug history, tobacco smoking history, or psychosocial history, and she was a social drinker. She had not received any medications since the mass developed and until admission to our hospital. She had undergone an operation three times as mentioned above and had been a carrier of type B hepatitis.\nAfter her admission to our department, her general condition was good, and there were three operative scars at both sides of her chest and lower abdomen. Her chest sounds were clear and there was no neurological abnormality. She was 151.1 centimeters tall and weighed 49.8 kilograms. Her heart rate was 77/minute, blood pressure was 135/87 mmHg, and body temperature was 36.1 °C. The laboratory findings were white blood cells 5.25 × 103/μL, hemoglobin 12.7 g/dL, and platelets 156 × 103/μL. A liver function test revealed: albumin 4.6 g/dL, aspartate aminotransferase 15 U/L, alanine aminotransferase 13 U/L, and total bilirubin 0.3 mg/dL. A renal function test revealed blood urea nitrogen 13.6 mg/dL and creatinine 0.79 mg/dL. An electrolyte test revealed sodium 143 mEq/L, potassium 3.8 mEq/L, and chlorine 106 mEq/L. A tumor marker test revealed carcinoembryonic antigen 3.4 ng/mL and squamous cell carcinoma antigen 0.80 ng/mL. Another test revealed positive reaction to type B hepatitis surface antigen and C-reactive protein < 0.1 mg/dL. Computed tomography demonstrated a gradually increasing low-density mass measuring 2.0 × 1.8 cm in diameter (Fig. ). Magnetic resonance imaging demonstrated a low-intensity mass in T1-weighted imaging and a high-intensity mass in T2-weighted imaging (Fig. ). The mass was thought to be a singular cyst; however, this type of cyst was rare and the mass was increasing. Therefore, dissemination of cervical carcinoma could not be excluded, and surgical removal of a part or tissue of the mass was performed.\nIn the right lateral position, thoracoscopic excision of the mass was done with two ports (3 mm and 2 cm access ports) by two general thoracic surgeons (Fig. ). First the 3 mm port was set at the sixth intercostal space on the inframammary line. Most of her left lung was attached to her chest wall; therefore, the second port was set above the cyst and lysis of adhesions was done. After the lysis, the cystic mass was found adhering to the upper lobe of her left lung. The adhesion of the mass to her lung was not strong and could be separated without injury to the visceral pleura. Therefore, the mass was thought to derive from the chest wall pleura and was resected by adhesiolysis.\nThe mass was a unilocular cyst containing mucinous fluid. On microscopic examination, the cyst was lined with a single layer of cuboidal epithelium (Fig. ); immunohistochemistry showed positive staining of calretinin and D2-40 (Fig. ). Thus, the cyst was diagnosed as mesothelial cyst derived from the chest wall pleura. Five years after the surgery, our patient had no evidence of cyst or cervical carcinoma on computed tomography.
A 15-year-old previously healthy South Asian, Sri Lankan female presented with three episodes of generalized tonic clonic seizures over a 24-h period, which progressed to status epilepticus within 2 h of admission. A targeted history from observer and family member revealed that she had developed an erythematous painless rash over both legs that had progressed over the preceding 2 weeks prior to the presentation. Furthermore, she also had a headache for 2 days, which had been diffuse in nature without features favoring meningism, discernible systemic symptoms, or fever to suggest an association or etiology. There was no background history of autoimmune diseases. The patient and family failed to recognize the clinical significance and did not seek medical intervention when these symptoms had occurred.\nOn examination, she was afebrile. She had mild periorbital edema and a resolving purpuric rash was noted on both her ankles. Despite a detailed neurological examination, no focal neurological signs were demonstrable. The fundi were also normal with no papilledema. Examination of her cardiovascular system revealed her blood pressure to be within reference range; however, a tachycardia was noted, though it was regular in rhythm. The jugular venous pressure was however elevated. Auscultation revealed a grade 2 pan-systolic murmur at the apex, favoring a mitral regurgitation, but the apex was not shifted. Respiratory system examination revealed tachypnea and presence of bibasal lung crepitations, in the absence of other features. Abdominal examination failed to reveal clinically significant findings.\nIn view of her seizures and status epilepticus, she was treated with intravenous diazepam 10 mg followed by intravenous phenytoin 18 mg/kg bolus along with oral sodium valproate via a nasogastric tube, which failed to control seizures. She was therefore electively intubated and ventilated while inducing paralysis and was started on intravenous midazolam followed by thiopentone sodium.\nCapillary blood sugar values and serum electrolytes were within normal reference range. All basic investigations including blood counts, biochemistry, and cultures were done along with a lumbar puncture. Erring on the side of caution, she was empirically treated with intravenous ceftriaxone and intravenous acyclovir along with intravenous dexamethasone to cover the possible spectrum of meningoencephalitis.\nWhile on treatment for possible meningoencephalitis, her clinical picture deteriorated; her tachycardia worsened and desaturated on atmospheric oxygen. Worsening signs of heart failure alerted us to the possibility of myocarditis. Electrocardiogram showed sinus tachycardia with T wave inversions in chest leads V2 to V6. Despite this, her cardiac enzyme assay (Troponin T and I, CK- MB) was negative. Her chest x-ray revealed relative cardiomegaly. Transthoracic 2D-echocardiohraphy (Phillips EQIP CVx, made in Germany) revealed moderate left ventricular systolic dysfunction with an ejection fraction of 40% with left ventricular global hypokinesia, along with a grade 2 severity mitral regurgitation, grade 1 severity aortic regurgitation; a clinically insignificant thin rim of pericardial effusion with no right atrial or ventricular collapse was noted. Following a cardiac consult, a clinical decision was taken to manage her medically with diuretics and fluid restriction. Upon stabilization, she was started on bisoprolol 2.5 mg bd and ivabradine 2.5 mg daily for control of heart rate along with a low dose enalapril of 2.5 mg daily.\nUpon clinical recovery from status epilepticus and cardiomyopathy, while still under investigation, we noted a trend toward reduction in cell counts in her whole blood analysis. Pancytopenia was seen on day 14 of her presentation. Hemoglobin dropped from 12.4 to 8.2 g/dL, while the total white blood cell count (WBC) was noted to have reduced to 3.5 × 109/L (4–10) with a differential count suggestive of neutropenia (2.8 × 109/L) and a lymphocyte count of 0.35 × 109/L. Thrombocytopenia was also noted. Blood picture revealed few fragmented red blood cells (RBC) with the lactate dehydrogenase elevated at 851 U/L (225–450). Coomb’s test was negative. Ongoing inflammation was appreciated, as the C-reactive protein was initially elevated at 60 mg/l (< 5), which then decreased to 8 mg/l (< 5). The erythrocyte sedimentation rate (ESR) also rose from 22 mm in the first hour, to reach 50 mm later in the second week of her presentation. Her coagulation profile (prothrombin time/international normalized ratio, activated partial thromboplastin time and plasma fibrinogen, renal and thyroid function tests, and liver profile) were all normal (Table ).\nIn suspecting a multisystem disease, three urinalysis reports done within the first 2 weeks repeatedly showed moderately field full RBC in a high power field with 40% dysmorphic RBC, red cell casts, and WBC (25–30 cells/per high power field). Despite this, her urine culture was sterile. She also had a sub-nephrotic proteinuria (600 mg of protein for 24 h). Ionized calcium and serum magnesium were repeatedly marginally below the reference value with normal urinary excretion of calcium and magnesium. Serum parathyroid hormone level was also normal (Table ).Vitamin B12 levels were normal at 273 pmol/L (140–650).\nExtensive neurological investigations were carried out. Non-contrast CT brain was suggestive of mild cerebral edema. Magnetic resonance imaging with T2 flair image showed very subtle altered signal intensity in bilateral parietal and occipital regions, suggesting acute parenchymal inflammatory changes favoring encephalitis. The cerebrospinal fluid (CSF) analysis showed isolated high levels of protein (387 mg/dL) in the absence of leucocytes and red blood cells. CSF for gram stain, culture, Ziehl-Neelsen stain, polymerase chain reaction (PCR) for mycobacterium tuberculosis, tuberculosis culture, herpes simplex virus 1 PCR, Japanese encephalitis IgM antibodies, anti-NMDA (N-methyl d-aspartate) and receptor antibodies were all negative. Electroencephalogram revealed only diffuse slow waves.\nCultures of blood, endotracheal secretions, and urine were sterile. Leptospirosis serology (microscopic agglutination test for leptospirosis), Rickettsia serology, viral studies for HIV (human immunodeficiency virus antigen and antibody), JE (Japanese encephalitis antibodies IgG and Ig M), EBV (Epstein-Barr virus monospot and antibody test), CMV (Cytomegalovirus IgG, IgM, and PCR), and dengue were all negative.\nOn suspicion of connective tissue disease, anti nuclear antibodies (ANA) were done and was found to be weakly positive (1: 40) (Method used: indirect immunofluorescence assay, Substrate used HEp 2 cells). Anti dsDNA showed positivity with very high titers of > 150 IU/mL. (Positive if > 46.1 in method used ELISA, confirmed by IFA). Human complement 3 (C3) and human complement 4 (C4) were both low: C3 = 41 mg/dL (83–177), C4 = 03 mg/dL (12–36). Anti cardiolipin antibody, anti-beta 2 glycoprotein antibody, and lupus anticoagulant were negative.\nIntravenous antibiotics and antivirals were ceased with negative cultures and a working diagnosis of SLE was made. Heart failure treatment was continued till she showed clinical and echocardiographic recovery. Sodium valproate was continued at a dose of 200 mg tds while phenytoin infusion was tailed off gradually. By day 14, she had recovered back to her premorbid state with complete recovery from both her neurological and cardiac conditions. Serial ECHOs were done and by day 14 the left ventricular ejection fraction had improved back to 60% with no regional wall motion abnormalities. She was discharged on day 21, on sodium valproate and folic acid with a follow up review planned by the multidisciplinary team. A repeated urinalysis on the day 21 only showed few RBC and WBC. The urine protein creatinine ratio was marginally elevated at 0.5 (< 0.4). Because of the resolving microscopic hematuria and proteinuria, renal biopsy was not done during the current admission. A repeated ANA done on day 28 was high (1/320) and the dsDNA too was elevated at 81.7 IU/mL.
A 40-year-old male patient (obese, sedentary, dyslipidemic, and with type 2 diabetes mellitus) presented with plantar perforating disease on his right, which was not treated by a specialist. With the decompensation of the diabetes, the wound worsened with hyperemia in the instep, discharge of purulent secretion from the side of the foot close to the orifice, fever, chills, and pain in the lower limb. Without satisfactory wound response after 7 days of initial debridement, fever persisted, along with an increased area of necrosis toward the leg, a foul odor, pain, edema, and discharge of purulent secretion. Due to the worsening of the wound, the patient was referred to our hospital. After admission, empirical antibiotic therapy was started with 4.5 mg tazocin administered intravenously 6/6 hours, 500 mg daptomycin administered once a day and glycemic control. Vascular surgery was performed to assess the wound and vascularization of the right lower limb. Due to the extent of the lesion and edema of the lower limb, palpation of the distal pulses was not possible, and the ultrasonographic evaluation with Doppler demonstrated three-phase arterial flow without trunk injuries, which suggests preserved flow in the right lower limb. In addition, endocrinology assessment was requested with glibenclamide 5 mg BID and dapaglifozin and metformin 5 mg/1000 mg BID prescribed.\nThe patient was referred to the operating room, and debridement of the right lower limb was performed with the removal of a large amount of necrotic tissue and purulent secretion. Due to the extent and severity of the injury, several tendons and muscles in the dorsum of the foot and leg were resected leading to bone exposure. Debrided tissues were sent for culture and antibiogram. After debridement and thorough cleaning with saline, a Renesys Smith Nephew dressing was implanted with negative pressure at 120 mmHg (–()).\nThe first dressing change was performed after 3 days due to the severity, extent of the lesion, and the discharge of a large amount of purulent secretion. The lesion showed a significant improvement, but there was still a large amount of purulent discharge in the anterior compartment of the leg. Fasciotomy and debridement of the anterior compartment of the leg was performed, and the dressing was placed under negative pressure again at 120 mmHg ( and ()).\nWith each exchange of dressing, the rigor of the debridement of devitalized tissues and thorough cleaning with saline was maintained. In addition, there was a noticeable increase in the amount of granulation tissue, reduction in bone exposure and the amount of secretion drained, as well as clinical and laboratory improvement. Vacuum dressings were changed every 3 or 4 days according to the amount of secretion drained.\nTwenty vacuum dressing changes were performed in 70 days, with an average change every 3.5 days, maintaining a continuous negative pressure of 120 mmHg. After complete coverage of granulation tissue without infection, elastic suturing was performed in the leg compartment to reduce the size of the dermis and epidermis graft ( and ()). It was not possible to use the elastic suture in the dorsum of the foot due to the distance between the edges. After cleaning the wound, the vacuum dressing was installed again. On the 71st day of hospitalization, the patient underwent a dermal matrix implant procedure, and an epidermis graft was removed from the ipsilateral thigh and placed on the wound (–()). He was discharged 22 days after the grafting procedure with good recovery and no areas of necrosis around the graft. Throughout the hospitalization period, motor physiotherapy was performed in order to prevent ankle ankylosis and loss of muscle and to allow the recruitment of other muscle fibers to maintain the natural physiology of foot flexion and dorsoflexion.\nDaily hydration with Dersani® was performed in order to avoid dryness of the epidermis. There was a small loss of skin on the lateral side of the foot, which the patient was instructed to dress with saline and neutral soap daily until closing by second intention. Approximately 5 months after grafting, the two areas with tissue loss had recovered adequately with a gradual reduction in size. The foot was slightly equinusvarus, but without loss of sensation or motor function (). In addition, the patient had controlled diabetes, was in a food reeducation program, and was undergoing motor physiotherapy to keep the foot functioning ( and ()).
A 12 years and 8 months old female presented with a double structural thoracic and lumbar scoliosis associated with Arnold-Chiari 1 malformation and an extensive cervicothoracic syringomyelia. At age 11 years and 11 months she developed acute weakness affecting both hands and feet with associated pins and needles down the arms and legs, as well as altered sensation affecting the right upper limb below the elbow while her bladder and bowel function was normal. The patient underwent an urgent cranio-cervical decompression including a posterior fossa craniotomy and C5/C6 laminectomy with syringostomy and placement of a syringopleural shunt to drain the syrinx []. She recovered well following surgery and there were no residual neurological signs or symptoms at the time of presentation in our clinic.\nOn clinical examination at age 12 years and 8 months, she had a progressive thoracic and lumbar scoliosis extending from T5 to T10 measuring 60° and T10 to L3 measuring 50° respectively. Neurological examination was normal. The patient had normal function including sport activities. She was skeletally immature and pre-menarche with Risser grade 1. An MRI of the whole spine demonstrated adequate decompression of the cranio-cervical junction and a small residual cervical syrinx which was considered to require no further treatment at the time by our neurosurgical colleagues.\nThe patient underwent posterior spinal arthrodesis extending from T4 to L3 at age 12 years and 10 months with the use of segmental pedicle screw and rod instrumentation and autologous iliac crest bone graft []. Spinal cord monitoring was performed during the procedure recording motor and sensory (cortical and cervical) evoked potentials which remained stable throughout. Postoperative neurological examination was normal. The patient had 3 doses of intravenous (IV) cefuroxime; one at induction to anaesthesia, and 2 after surgery at 8-hourly intervals.\nIn the postoperative period, the patient developed prolonged abdominal distension without pain which was considered to be due to paralytic ileus as the result of the major spinal operation, as well as the effect of narcotic analgesic agents delivered during and after surgery. There was no nausea or vomiting and the bowel sounds were preserved but reduced. She had no electrolyte abnormalities and her blood tests were normal other than an expected small reduction in haemoglobin. The spinal wound healed uneventfully and the patient mobilized out of bed on postoperative day 2.\nAt the end of the first week following surgery the abdominal distension began to increase and she started having generalized abdominal pain with associated tenderness in the right iliac fossa. She had no vomiting and no bowel movements. Repeat blood tests showed marginal leukocytosis coinciding with the onset of abdominal pain while the remaining parameters including electrolytes, kidney and liver function tests were within normal limits. She was initially managed conservatively maintaining fluid and electrolyte balance and placing a nasogastric tube for aspiration of gastric contents. Repeat ultrasounds and a CT scan of the abdomen did not demonstrate evidence of mechanical obstruction, congenital anomaly (such as a fibrous band or a malrotated bowel), or cecal/sigmoid volvulus []. During the whole postoperative period our patient was under regular review by our general surgical colleagues.\nDue to aggravation of the patient's abdominal distension and absence of clear signs of peritonitis pain a laparoscopy was decided on postoperative day 16 followed by an exploratory laparotomy. At that stage no definitive diagnosis was made. The laparotomy showed the cecum and ascending colon to be grossly inflamed with multiple ragged perforations, no dilatation and gross contamination of the abdomen. Multiple loops of small bowel were adherent to the anterior abdominal wall in the right iliac fossa. The remainder of the transverse, descending and sigmoid colon was found to be entirely normal. A limited right hemi-colectomy and ileocecal anastomosis was performed and the patient returned to the intensive care with nasogastric aspirations. She remained intubated for 7 days and was treated with meropenem and vancomycin for 2 weeks as the peritoneal cultures showed a mixed growth of Enterococcus and E. coli. This was changed to ciprofloxacin for an additional period of 3 weeks. She made gradual recovery with good bowel function, returned to feedings over a period of 2 weeks and was discharged on postoperative day 32.\nThe surgical specimen sent for histopathology included 3 cm of terminal ileum, 5.5 cm appendix and 12 cm of colon. A single large defect was identified at the cecum and multiple defects in the ascending colon above the ileocecal valve. The microscopic examination of the small bowel and appendix were normal. Sections from the colon and cecum showed ulcerations and perforation with organized fibrinous peritonitis. There were no features of Crohn's disease, ulcerative colitis or vascular abnormality. The surgical findings combined with the clinical picture and the pathology report confirmed the diagnosis of Ogilvie's syndrome.\nAt latest followup, 3.2 years after scoliosis surgery our patient was skeletally mature (Risser 5), had no abdominal complaints and was on a normal diet. Spinal radiographs showed maintenance of an excellent correction of her scoliosis and no signs of infection, instrumentation failure or nonunion. She had normal activities including sports and no complaints of her back.

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