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pmc-6276472-1
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A 50-year-old gentleman with hypertension, cholelithiasis, and previous left ureteric calculus had an episode of syncope and lower abdominal pain. On examination, he was tachycardic at 137 beats per minute and hypotensive at 68/53 mmHg. The patient was given intravenous 0.5 mg of adrenaline and started on a noradrenaline infusion during resuscitation. Ultrasound scan done in the Accident and Emergency Department showed a large amount of intra-abdominal free fluid.
A CT mesenteric angiogram showed a large volume hemoperitoneum and active contrast extravasation in the region of the greater omentum (Figures and ). The source of the haemorrhage was initially not discernible. However, after careful comparison with a previous CT scan done 3 years earlier, a long aberrant omental artery demonstrating a cockscrew pattern arising from the left gastro-epiploic artery was noted terminating in a large fat containing structure within the lower right abdomen.
A catheter angiogram was performed with a view to identify and embolize the bleeding vessel. Angiogram performed from the splenic artery confirmed the presence of an active haemorrhage from an aberrant artery which extended from the splenic hilum down to the right iliac fossa (). The artery terminated in a small cluster of abnormal cockscrew shaped vessels. Successful embolization of the artery was performed using coils and N-Butyl cyanoacrylate (glue). The patient remained haemodynamically stable and recovered well.
The CT scans were reviewed again in view of the abnormal vasculature in the right iliac fossa. It was noted that there actually was a large lipomatous lesion in the right iliac fossa. It had grown slightly in between the CT scans and was causing displacement of the small bowel loops. A MRI confirmed the presence of a fatty lesion with several abnormal internal vessels.
Image guided biopsy of the lesion was performed. Pathological specimen of the fat-containing mass demonstrated lipomatous tissue with focal fibrosis and old haemorrhage (). There was no evidence of high grade sarcoma. Immunostains for CD31 and CD34 were negative for abnormal vascular proliferation, reducing the likelihood of the mass being an angiomyolipoma. FISH and MDM2 studies could not be performed due to lack of specimen.
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pmc-6276472-2
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A 57 year old gentleman with history of Child's C liver cirrhosis complicated by oesophageal varices and prior variceal bleed, alcohol dependence and multiple cardiovascular risk factors presented to our Emergency Department with abdominal pain and distension. A bedside abdominal tap revealed frank blood. He was hypotensive at presentation and his haemoglobin level dropped from a baseline of 10.5g/dL to 6.4g/dL. The coagulation factors were significantly deranged due to liver dysfunction.
A CT mesenteric angiogram was performed. It showed a 3.3 x 1.9cm haematoma in the sigmoid mesentery with a focus of contrast extravasation in the arterial phase that showed progressive pooling in the portal venous and delayed phases (). Subsequent catheter angiogram showed no contrast extravasation during selective catheterization of the superior and inferior mesenteric arteries. However, selective catheterization of the coeliac axis showed an aberrant vessel arising from the left gastro-epiploic artery and coursing obliquely to the right lower abdomen in the region of the haematoma (). Multiple abnormal vessels with a corkscrew appearance were also seen at the distal aspect of the aberrant artery (). Although no contrast extravasation was detected, decision was made for embolization in view of recent CT findings. Four 2mm fibered platinum coils were then deployed into this artery with good arterial stasis.
A repeat CT mesenteric angiogram performed 2 days later showed no contrast extravasation in the region of the haematoma. There were no further episodes of bleeding during this admission.
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pmc-6276472-3
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A 71-year-old gentleman with multiple cardiovascular risk factors, known pancolonic diverticular disease and antral gastritis, was referred to our surgical service for per rectal bleeding. On examination, the patient was found to be pale, hypotensive (BP 80/50), and tachycardic (HR 108). Digital rectal examination revealed some stale melaena, although the patient reported passing moderate amounts of bright red blood in his stools intermittently.
His haemoglobin levels were 6.0g/dl on admission. He underwent fluid resuscitation and 4 units of packed red blood cell transfusion. Emergent esophagogastroduodenoscopy (OGD) and colonoscopy was performed which revealed areas of gastritis and pan diverticular disease but otherwise no sites of active ulcer or diverticular bleed.
A CT mesenteric angiogram was performed which showed no active contrast extravasation in the arterial and portal venous phases. Dense material was noted within the ileum, probably from prior haemorrhage. There was an incidental finding of a fat-containing mass in the pelvis displacing the adjacent bowel loops (). There appeared to be an aberrant vessel arising from the left gastro-epiploic artery supplying the mass (). The CT scan showed no active contrast extravasation and, hence, no intervention was performed.
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pmc-6276481-1
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A 57-year-old woman was referred to the Prosthodontics Department of the School of Dentistry, Tehran University of Medical Sciences, for treatment of her worn dentition. The chief complaint of the patient was speech difficulties and reduced chewing ability. The patient had a history of osteoporosis and also diabetes mellitus, which were under control. After patient interview, it was found that she was taking oral bisphosphonates over the past year. The left second molar had been restored with a class I amalgam restoration. In extraoral examination, the patient's face was symmetrical, the facial proportions were equal, and the lips were competent. There were no signs or symptoms of temporomandibular joint disorder. In intraoral examination, severe wear was found in maxillary anterior teeth, and other teeth had mild occlusal wear (Figures –). In eccentric movements, the opposing tooth facets were matched confirming the presence of attrition (). In radiographic examination, a remaining root related to the left mandibular second molar was found. The root had been surrounded completely by the intact bone with no clinical or radiographic signs/symptoms. After consulting with an oral and maxillofacial surgeon and since the patient was taking bisphosphonates, it was decided to avoid any aggressive intervention and the root remained untouched. No other remarkable findings were observed ().
For vertical dimension (VD) analysis, facial appearance, interocclusal rest, and phonetics were evaluated. The vertical dimension of rest (VDR) was approximately 6 mm greater than the VDO, which was greater than the normal range (2–4 mm), and the closest speaking space was about 3 mm. Therefore, it was possible to gain restorative space by increasing it. Periodontal examination of the teeth was performed. Before any procedure, dental prophylaxis was performed, and the patient received oral hygiene instructions.
Alginate impressions (Tropicalgin, Zhermack, Badia Polesine, Rovigo, Italy) were made from both arches to obtain the diagnostic casts. The base record with a wax rim was fabricated for the mandibular cast. The vertical dimension of occlusion (VDO) was established using the described methods. The required amount of VDO increase was approximately 2 mm. An interocclusal record was made with zinc oxide eugenol paste (Luralite, Kerr Corp., Orange, CA, USA) on wax rims using an anterior deprogramming device in the considered VDO. A face bow record was used to mount the maxillary cast in relation with the transverse condylar axis. In the next step, the mandibular cast was mounted against the opposing arch on a semiadjustable articulator (Denar Mark II, Whip Mix Corporation, Louisville KY, USA) by centric relation bite record. The check bite records were obtained to set the condylar elements. First, the mandibular anterior wax-up was performed. After the intraoral verification of the mandibular canine wax-up with the corner of the mouth and relationship of the lip to the teeth, a Broadrick occlusal plane analyzer was used to determine the occlusal plane. Then, the wax-up procedure and mandibular posterior tooth setup were accomplished and the mandibular interim removable partial denture was fabricated (). Duplicate casts were obtained from the diagnostic wax-up, and mockup shells were fabricated (Drufolen H; Dreve Dentamid GmbH, Unna, Germany). Shells were used to fabricate directly bonded build-ups for lower anterior and all of the upper teeth, and the mandibular interim removable partial denture was delivered. The occlusal centric stops and the anterior guidance were adjusted. Also, the smile line and phonetics were verified. For three months, the patient's condition was assessed in terms of the temporomandibular joint and muscle comfort, phonetics, chewing ability, and esthetics. Next, the available treatment options were discussed with the patient. Since the patient used oral bisphosphonates for more than 3 months in the past year and according to the consultation with her attending physician, implant treatment and surgical procedures were excluded. According to the diagnostic procedure, full-coverage restorations were chosen for the upper jaw. A RPD was chosen for the lower jaw to restore the posterior segment. Porcelain veneer laminates and full coverage restorations were considered for the mandibular anterior teeth and the main abutment of the RPD, respectively. Because of the lack of restorative space, full metal restoration was chosen for the left second molar. Since an appropriate posterior support was essential for such a patient to prevent the wear induced by protrusive interferences, it was decided to restore the mandibular arch first, with a definitive RPD to ensure posterior support.
Tooth preparation was performed using a putty index made from the diagnostic wax-up. Anterior lower teeth were prepared for the porcelain laminates with light chamfer finishing line, and the other teeth were prepared for metal ceramic restorations with a deep chamfer margin to serve as RPD abutments. A complete arch putty-wash impression was made with polyvinylsiloxane (Panasil, Kettenbach, Hesse, Germany) after retracting the gingiva using the retraction cords. The temporary restorations were made and cemented using temporary cement (Temp Bond, Kerr Corp., Orange, CA, USA). The impression was poured, and the base record and wax rim were fabricated on the definitive cast. In the next appointment, an impression was made from the mandibular temporary restorations to be used as an index for the fabrication of final restorations. After removal of temporary restorations, interocclusal record was made using an anterior deprogramming device and zinc oxide eugenol paste on wax rims in centric relation. A2 shade heat-pressed lithium disilicate glass-ceramic (IPS e.max press, Ivoclar Vivadent, Liechtenstein) was chosen for the fabrication of the laminates. In laboratory procedures, the definitive cast and the cast from temporary restorations were scanned by a 3Shape laboratory scanner (D700; 3Shape A/S; Copenhagen, Denmark). It was decided to use CAD/CAM-generated wax patterns. Therefore, digital designing software (Exocad DentalCAD, Exocad, Darmstadt, Germany) was used to prepare the wax patterns according to the cast from finalized temporary restorations. For RPD abutments, it was tried to survey the guide planes digitally as well (). Wax patterns were milled using a milling machine (Arum milling machine, Dowoom, Daejeon, Korea). Wax patterns of RPD abutments were surveyed and refined conventionally when necessary. The metal frameworks of RPD abutments were tried in after resurveying. Finally, porcelain veneering was done and final restorations were cemented. A mutually protected occlusion was established for the patient. In the next step, the procedures for RPD fabrication were started. The primary cast was obtained from the preliminary impression. Definitive impression was made with polyvinylsiloxane (Monopren, Kettenbach, Hesse, Germany) using a custom tray. In RPD framework try-in appointment, the altered cast technique was applied by making an impression from the free-end region with an acrylic tray attached to the framework. Finally, after tooth arrangement try-in, the definitive RPD was processed and delivered to the patient. A mutually protected occlusion was established ().
Root canal therapy was performed for the maxillary anterior teeth. Then, casting post and cores were made according to the wax-up index and the opposing arch and cemented with Panavia F2 (Kuraray Noritake Dental Inc.). Tooth preparation was done with a round shoulder margin and checked with the index from diagnostic wax-up. Temporary restorations were made using mockup shell and cemented with zinc oxide temporary cement (Temp Bond, Kerr Corp., Orange, CA, USA). Then, mutually protected occlusion was established. In the next appointment, the temporary restorations were finalized by checking the occlusal contacts, phonetics, and esthetics, and an impression was made from the temporary restorations (). The final impressions were made with a 2-step impression technique (putty and light body impression materials) (Panasil, Kettenbach, Hesse, Germany) after gingival retraction. Definitive cast was poured, and an interocclusal record was obtained to mount the cast on a semiadjustable articulator. A laboratory scanning procedure was accomplished, and A2 shade zirconia frameworks (IPS e.max ZirCAD, Ivoclar Vivadent, Liechtenstein) were designed according to the temporary restorations verified in the clinic (). Try-in of the frameworks was performed, and then porcelain veneering was done using customized anterior guide table. After porcelain try-in appointment and establishing mutually protected occlusion, the restorations were stained and glazed. The final restorations were cemented with glass ionomer cements (GC Fuji II, GC America, Illinois, USA) (). Oral hygiene instructions were given to the patient, and follow-up appointments were scheduled. No problem was reported by the patient during 18 months of follow-up.
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pmc-6276495-1
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A 50-year-old gentleman presented for elective panendoscopy and biopsy of left vocal cord lesion under general anaesthesia. His background history was significant for hypertension, morbid obesity (BMI 40, weight 118kg), and possible obstructive sleep apnoea (STOPBANG 4). Airway assessment revealed a short, thick neck with the circumference of 45cm, mouth opening of two finger breaths, and Mallampati IV, indicative of possible airway difficulty.
After discussion with the surgical team, decision was made to employ a tubeless oxygenation technique using THRIVE in order to facilitate surgery in a crowded airway. The oropharynx was topicalized with 6ml of 4% lignocaine delivered via an atomiser. The patient was preoxygenated with 100% oxygen for 15 mins on the operating table, in 20-degree reverse Trendelenburg position with Optiflow™, a commercial transnasal humidified oxygen delivery system (Fisher and Paykel Healthcare Limited, Panmure, Auckland, New Zealand). Oxygen flow was gradually increased from 20L/min to 60L/min over the 15-minute preoxygenation period.
General anaesthesia was induced using TCI Propofol (3-4.5mcg/ml, effect site control), intravenous remifentanil infusion (0.03-0.15mcg/kg/min), and rocuronium 0.3mg/kg and maintained on total intravenous anaesthesia. Throughout induction, airway patency was achieved by maintaining a slight head tilt position, with the patient's head rested on a soft jelly ring. Oxygenation was sustained solely via THRIVE during and after induction. Once the patient was under general anaesthesia (GA), the airway was handed over to the surgeons for instrumentation. shows the intraoperative setup of THRIVE. The entire surgical procedure, comprised of panendoscopy, rigid bronchoscopy, and biopsy of left vocal cord lesion, lasted 14 minutes. SpO2 readings were maintained above 98% throughout with oxygen flow rates of 60L/min, FiO2 1.0. An arterial blood gas taken 10 minutes into the onset of apnoea showed PaCO2 of 65mmHg and PaO2 of 183mmHg. The patient was hemodynamically stable throughout surgery, with systolic blood pressures ranging between 120 and 170mmHg and heart rate between 60 and 90/min. Upon completion of the surgery, the suspension laryngoscope was removed by the surgeons. Propofol infusion was stopped and sugammadex was given as the reversal agent. Throughout the emergence process, which lasted a total of 10 mins, the patient was maintained on similar intraoperative settings of THRIVE. Prior to transfer, THRIVE was switched to a Hudson facemask delivering 8L/min of oxygen. For the next two hours, he was monitored in the recovery unit with the continued use of high-flow nasal insufflation at 20L/min, FiO2 0.3, and subsequently discharged to high-dependency unit on room air. Verbal consent was obtained from the patient for publication of this case report.
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pmc-6276500-1
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A 72-year-old African American male presented with progressive erythroderma and keratoderma of the palms and soles of unknown etiology for greater than three years. He was originally treated by his primary care physician with topical antifungal cream for a presumed tinea infection without improvement. He presented to the dermatology clinic where multiple biopsies over time were nondiagnostic, revealing nonspecific pathologic diagnoses such as spongiotic dermatitis and psoriasiform dermatitis. He failed to improve after many months of high dose topical steroids and a short course of oral methotrexate.
Approximately one month after methotrexate was discontinued, the patient developed violaceus and erythematous juicy nodules on the cheeks, trunk, and all four extremities (). Differential diagnosis included deep fungal infection, acute febrile neutrophilic dermatosis, CTCL, and Kaposi's sarcoma. A biopsy of a large tumor on the right shin was performed and revealed a diffuse infiltrate of atypical inflammatory cells, without epidermotropism, most consistent with MF with large cell transformation. Over the following months, the development of tumors quickly progressed, and many became ulcerated (). At this point tumors developed on the dorsal surface of the tongue (). At this time, biopsies of the right thigh showed epidermotropism ().
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pmc-6276522-1
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A 77-year-old female with hypertension, untreated hyperlipidemia, hypothyroidism, but without prior history of CAD or angina symptoms was referred to a cardiologist's office for a treadmill exercise test secondary to new onset palpitations. She denied any chest pain or pressure, shortness of breath, exertional dyspnea, or leg swelling. She quit smoking 36 years ago and has no family history of early cardiovascular diseases. She has a very distant cardiac work-up years ago, including a stress test and an echocardiogram, which the patient reported were unremarkable. Vital signs prior to the test were a blood pressure of 140/78, heart rate of 80, and a respiratory rate of 14. Physical exam was unremarkable except for a systolic ejection murmur that was graded II/VI at the base. EKG was at baseline with a normal sinus rhythm, normal axis, and occasional premature ventricular complexes (PVCs).
The patient underwent an exercise stress test using the Bruce protocol and was able to complete stage 1 with exercise for three minutes at a speed of 1.7 mph and a 10% incline. The test was terminated due to dyspnea and fatigue without chest pain. She reached a heart rate of 141 beats per minute which was 98% of predicted for her age. She accomplished 4.5 metabolic equivalents of exertion. With exercise, she had occasional atrial premature complexes and PVCs with a ventricular couplet in recovery. She started to notice tightness in her chest. Her peak blood pressure at the time was 218/90.
The patient was transferred onto a stretcher, and an IV line was started. She was given sublingual nitroglycerin, 325 mg of aspirin to chew, and one 5 mg IV push of metoprolol tartrate. She then received nitroglycerin paste and metoprolol tartrate IV every 5 min for two more doses. At that time, her EKG on the stretcher showed ST elevations in leads I, aVL, V5, and V6 with ST depressions in leads III, aVF, and V1-V3 consistent with a lateral wall evolving myocardial infarction (). She was transferred urgently to our institution for cardiac catheterization.
The patient underwent an emergent cardiac catheterization with left ventriculography and intravascular ultrasound (IVUS) within 2 hours after onset of symptoms. Troponin-I levels prior to the catheterization increased to 11.17 (normal less than 0.05 ng/ml). The rest of the laboratories were within normal limits including a thyroid-stimulating hormone (TSH) level. Coronary angiography showed nonobstructive coronary artery disease (pLAD 40%) and highly tortuous coronary arteries. IVUS of the proximal LAD revealed a minimal lumen area of 5.2mm2, and no ruptured plaques. Left ventriculogram revealed a left ventricular ejection fraction (LVEF) of 20% and severe mid-cavitary hypokinesis with basal and apical hyperkinesis (Figures and ). To our knowledge, this is the first case of treadmill exercise testing-triggered mid-left ventricular ballooning variant of takotsubo cardiomyopathy, whereby obstructive epicardial CAD and ruptured plaques were excluded with angiography and IVUS, respectively.
The patient was started on medical management with standard therapy for heart failure. A follow-up echocardiogram was done two days after the event which redemonstrated mid-left ventricular ballooning, with an improved LVEF of 35%. The patient remained asymptomatic during the course of her hospitalization and troponin levels trended down from a postcardiac catheterization peak of 16.06 ng/ml. An echocardiogram was repeated during an outpatient follow-up two weeks later which showed resolution of wall motion abnormalities and an LVEF of 45-50%.
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pmc-6276807-1
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A 14-year-old male patient was presenting progressive hearing loss in the right ear for 2 years, learning disability and no previous medical conditions. Facial mimicry was preserved. Otoscopy showed intact and unaltered tympanic membranes. Audiometry revealed moderate right conductive loss, tympanometry with As curve to the right, curve A to the left and absence of contralateral acoustic reflex to the right. Computed tomography showed a round-shaped soft-tissue density lesion in the middle ear, close to facial nerve topography ( and ). Magnetic resonance imaging showed an expansive lesion with ill-defined contours, involving the tympanic segment of the right facial nerve, extending anteriorly to the level of the geniculate ganglion and, posteriorly, in its transition to the mastoid segment, with a slight attenuation by the paramagnetic contrast agent, suggestive of facial nerve hemangioma ( and ). Watchful waiting was the management chosen for the patient. After a 2-year follow-up, there was no worsening in hearing nor in facial mime impairment. Imaging studies did not reveal tumor growth.
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pmc-6276813-1
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A 4 year-old boy with a previous history of recurrent wheezing, with no criteria of severity and no associated manifestations, was observed in an emergency department for fever, vomiting and prostration. He had severe pallor, which prompted analytical investigation, that revealed microcytic and hypochromic anemia with hemoglobin (Hb) of 4g/dL, red cell distribution width (RDW) of 27% and 4% of reticulocytes, with no other relevant abnormalities. He was transfused with packed red blood cells and was admitted for treatment and investigation. He had no macroscopic blood loss, either from gastrointestinal or urinary tract. After 6 days, he was discharged on oral iron therapy, with Hb of 8.1g/dL and referred to Hematology for outpatient follow-up.
Five days after being discharged, he was seen again for fever, asthenia, coryza, and productive cough. He was pale, prostrated and tachypneic, with dispersed bilateral rhonchi on pulmonary auscultation. Analytically he had Hb of 2.8g/dL and marked anisopoikilocytosis on the peripheral blood smear. He was transfused with packed red blood cells and readmitted. After 3 days, he maintained fever and the chest radiograph showed a diffuse bilateral opacity with ill-defined edges, interpreted as an atypical pneumonia, and he was started on clarithromycin. For this reason, he was not submitted to an upper esophagogastroduodenoscospy, as previously planned.
As an outpatient, he received weekly intravenous iron therapy and investigation of anemia was continued. Vitamin B12 and folic acid were within normal range and the bone marrow smear was compatible with sideropenia. Celiac disease, cystic fibrosis and pernicious anemia were excluded. The coproculture, parasite stool exam and fecal occult blood test were negative. As there was a poor response to intravenous iron therapy, he was readmitted to further investigate gastrointestinal bleeding. Upper and lower gastrointestinal endoscopies with biopsies were performed and no hemorrhagic lesion was found, and the mucosa was macroscopically and histologically normal. Abdominopelvic ultrasound, gastroduodenal and intestinal series, intestinal scintigraphy and enteral magnetic resonance imaging were normal. As such, given the iron-deficiency anemia with characteristics compatible with blood loss (although not identified), and despite the absence of respiratory symptoms at this phase, we started looking for other sources of hemorrhage, namely pulmonary. The chest radiograph showed a diffuse bilateral opacity with ill-defined edges, with a predominantly central location (), suggestive of alveolar hemorrhage.
To confirm alveolar hemorrhage, a fibrobronchoscopy was performed. There were no morphologic abnormalities or changes of the respiratory mucosa, and the cytological exam of the bronchoalveolar lavage showed 20.000/μL erythrocytes. Hemosiderin-laden macrophages were also identified using Perls stain (), confirming the diagnosis of PH. A pulmonary computerized tomography (CT) scan () showed diffuse ground-glass attenuation in both lungs with no zonal predilection, some dispersed areas of lower density, and several scattered micronodules. The patient was initiated on high dose methylprednisolone (20mg/kg/day, 3 days), followed by oral prednisolone. After excluding the most frequent causes of PH: auto-immune diseases (negative autoantibody profile), congenital cardiopathies, cow's milk protein allergy, among others - the diagnosis of idiopathic PH was made.
After starting steroid treatment there was a progressive increase in Hb level and improvement of radiological abnormalities. At follow-up, hydroxychloroquine was added (up to a dose of 5mg/kg/day) due to a drop in the Hb level coinciding with an attempt to taper steroid dosage. Subsequently, there was laboratory improvement and corticosteroid was tapered. The child is currently asymptomatic, with Hb levels between 11.3 and 13.3g/dL.
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pmc-6277171-1
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A 38-year-old female, single, Libyan, graduated from High Institute, had a history of type I diabetes mellitus and primary hypothyroidism for past 12 years and epileptic episodes for seven years. She is currently taking thyroxine 150 µg, basal-bolus insulin analog regimen, and Keppra (Levetiracetam) 500 mg once daily with good follow-up to neurology and endocrine clinic with reasonable control. The patient had a long history of fatigue and dizziness with documented low blood pressure for which she was screened for Addison’s disease twice. The results were negative for both tests. On 3rd August 2015, she complained of forgetting names of objects despite retaining ability to recognize the function of the objects (such as the name of mobile). We had a high degree of suspicion for nominal dysphasia. All other neurological assessments were normal including peripheral sensation testing and other memory features. The magnetic resonance imaging (MRI) of the brain, vitamin B12 levels, and complete blood count (CBC) with peripheral blood film tests were ordered. The results showed normal brain MRI; however, the levels of vitamin B12 were 122.8 pg/ml which was significantly low. To confirm the low levels of vitamin B12, the test was repeated. The vitamin B12 results were 97 pg/ml which was lower than the first test. The CBC was nearly normal as well as normal mean corpuscular volume (MCV). The peripheral blood film showed no evidence of megaloblastic changes or hypersegmented neutrophils. The lab findings, which were sent outside Libya, showed the presence of gastric parietal cell antibodies. The upper gastrointestinal (GI) endoscopy was normal. Table shows the baseline analysis as well as the results of the patient serum profile. The parenteral vitamin B12 therapy was started, and the patient showed improvement in name retrieval for objects after two weeks into the treatment. On three months follow-up after the initiation of treatment, the patient recovered completely and her vitamin B12 levels were within the upper reference range.
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pmc-6277213-1
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A male famer aged 68 years old was admitted to our institute for a tumor in his lower lip. This patient has a history of smoking (30 pack-year) and consuming alcohol for more than 30 years (approximately 200 ml per day). He was diagnosed as systemic lupus erythematosus (SLE) 20 years ago and had been treated with methylprednisolone for 17 years. For the last three years, his SLE status has been stable and thus, he discontinued the SLE treatment.
The patient reported that the tumor in the middle of his lower lip had appeared for a year and gradually increased in size without any pain or bleeding. He did not receive any treatment because of his financial issue. For the last few months, the tumor had rapidly grown, bled and become painful, so that he could not eat or clean his teeth.
On examination, there was a 3 x 4 cm, raised, ulcerous, and bleeding tumor, developing in the lower lip and expanding to 1/3 external upper lip (). The submental lymph node was around 2 cm in diameter, firm, and hardly moveable. Ultrasound revealed a suspected metastatic submental lymph node with absent echogenic hilum. MRI Scan demonstrated a lesion in lower lip with size of 13 x 31 mm, which increased in T1W signal and T2W signal, strongly enhanced after contrast and did not invade surrounding tissue. A 2 cm and round lymph node was also identified (). The fine needle aspiration (FNA) result of the lymph node presented a metastatic squamous cell carcinoma and the biopsy result of the tumor confirmed squamous cell carcinoma (SCC). No abnormality was detected by a metastatic work-up. Therefore, the clinical staging of this patient was cT2N1M0. In addition, other para-clinical tests including full blood count, biochemistry profile, ds-DNA, ANA were normal, which indicated a stable status of SLE.
The patient underwent surgery including a complete removal of the lower lip and 1/3 external of upper lip, and dissection of the bilateral cervical lymph nodes. The lower lip was reconstructed with V-Y advancement flap (). This operation, performed by a team of head and neck surgeons, was proceeded within 4 h. Patient was discharged after 14 days without any complications. Final pathology presented SCC ().
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pmc-6277214-1
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We report a case of a 41 years-old white man living in rural area with a history of recurrent right spontaneous pneumothorax (three subsequent episodes) treated with chest tube.
No respiratory symptoms and normal physical exam were observed on admission. Disability for anxiety states from fear of recurrence PSP was observed.
Chest CT scan showed small apical bullae in the right upper lobe without cystic change in the pulmonary parenchyma (A).
For prevention of recurrent PSP, we performed a bullectomy, in patient placed in the lateral decubitus position, by single-port VATS in general anesthesia with one-lung ventilation, using a 10mm-30° thoracoscope and endoscopic devices. Due to the presence of diffuse pleural adhesions, a partial pleurolysis was performed before stapling apical bullae (B, C).
A 24-Fr chest tube was introduced after the procedure with the closure of the access incision.
After 24 h the post operative chest X-ray revealed a right radiopacity suspected for hemothorax. (D) A redo-VATS, under general anesthesia with one lung ventilation, was performed by biportal anterior approach. This surgical procedure allowed to remove blood clots and residual adhesions in the pleural cavity with full expansion of the lung (E, F). Two 24-Fr chest tubes were placed in the pleural cavity at the end of the operation.
The patient had post-operative air leaks which resolved after 10 days and he was discharged thereafter.
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pmc-6277215-1
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A 49 years old female was referred to a sudden, painless hematuria 12 days prior for her visit to our hospital. She had past history of cervical cancer about one year ago and received surgery as well as adjuvant chemotherapy and radiotherapy thereafter. The latest follow-up showed no evidence of tumor recurrence. Physical examination revealed no palpable mass or enlarged lymphnodes. She had also diagnosed with diabetes type 2 for 10 years with no medication pills treatment. Computed tomography revealed a small lesion on the superior wall of the urinary bladder with acute clot retention (). Cystoscopy confirmed a solid papillary pedunculated mass with a measuring of 1.0 x 0.5 cm located on the superior posterior wall (A). The surface of the mass revealed reddish and vascular formation. The surrounding urinary wall have several distended vessels which seems to be associated with the hemangioma formation (B).
We then performed transurethral tumor resection and the tissue sample was sent to the pathological examination. Histological findings revealed the almina propria and submucosa of the urinary wall without infiltration of the muscularis propria (A). They were found to be as a proliferation of vessel walls with distinct borders and spreading between the normal vasculature, well differentiated, and the stroma of the bladder submucosa with intense congestion (B). The pathological diagnosis was bladder hemangioma cavernous type according to the histological features described above. The symptom of hematuria disappeared after the surgery and no evidence of tumor recurrence was found in one year and half follow-ups.
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pmc-6277397-1
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A 68-year-old male patient was referred to our department from neurosurgery due to the occurrence of diplopia 10 days after a head surgery that was performed following a pedestrian traffic accident. On the day of the initial trauma, the patient was admitted to the intensive care unit after neurosurgical evaluation, because of a compound comminuted depressed fracture of the right temporal bone. In the initial ophthalmologic examination, there were no ocular symptoms. On day 4 after trauma, an open reduction and internal fixation were performed on the temporal bone fracture by the neurosurgeon. On day 2 after neurosurgery, the patient complained of diplopia and orbital computed tomography (CT) revealed bilateral orbital superior wall fractures. In contrast to the fact that a herniation of the brain parenchyma was unclear on the initial facial CT scan (Fig. a), the fracture fragment and the brain parenchyma were downwardly moved into the orbit, observed on CT scans taken when diplopia occurred (Fig. b). Upon physical examination at the time of admission to the department of oral and maxillofacial surgery, right eye movement limitation and right eye protrusion were observed (Fig. a, c). The surgical plan was to reconstruct the bilateral medial orbital wall using a titanium mesh via coronal approach. For better fitness of the titanium mesh, the mesh was contoured preoperatively on a model of the patient’s skull that included the orbital wall defect. The defect on the model was restored using a plate wax (Fig. ); following pre-operative manipulations, the mesh was sterilized.
The reconstruction of the orbital wall was performed 1 month after trauma. A bicoronal approach was attempted in order to easily access the tissue on the right orbital wall. Due to severe tissue adhesion, a craniotomy was performed on the frontal bone to approach the anterior cranial base, even though this is a more invasive approach. Despite utilizing this approach through the anterior cranial base, sufficient tissue dissection was not achieved due to severe adhesion. We thus decided to remove the superior orbital rim in order to secure the operating field, which was successful. Before the osteotomy of the superior orbital rim, a miniplate for fixation of the bony fragment was prepared to reposition the fragment in its original position. After osteotomy, strong adhesions between the brain parenchyma and orbital contents were found (Fig. a). Further forcible dissection of the adherent tissue was expected to cause damage to the meninges and parenchyma, so after a neurosurgery consultation, neurosurgical procedures were performed in order to dissect the adherent tissue, remove the fractured fragment and necrotic brain tissue, and repair the damaged meninges (Fig. b). After the adhered tissue was dissected, the superior orbital wall was reconstructed with a pre-prepared titanium mesh, and the superior orbital rim bone fragment was placed in the original position with a miniplate (Fig. c).
In the left superior orbital wall fracture where the tissue adhesion was not severe, tissue dissection was completed without an osteotomy of the superior orbital wall rim. The titanium mesh was placed and fixed through conventional methods. After fixation of the fracture fragment, which had been obtained from the craniotomy site, the surgical site was closed.
We could confirm the improvement of the exophthalmos immediately following surgery (Fig. d) as the CT scan taken immediately after the operation showed that the brain parenchyma that had been protruding into the orbit returned to its normal position (Fig. c). Postoperative diplopia and exophthalmos were improved, and the patient was discharged without complications. At 3 months after surgery, further improvements in diplopia and exophthalmos with no limitation of ocular motility were found (Fig. b, d).
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pmc-6277400-1
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A 77-year-old man was referred to our department for the evaluation of a pulmonary nodule in the right lower lobe detected by chest computed tomography (CT). He had a surgical history of thoracic endovascular aortic repair and coronary-artery bypass. The pulmonary nodule had increased in size, so lung cancer was suspected (Fig. ). The clinical stage was determined to be IA-3 by radiologic examinations. He was also diagnosed with AS simultaneously.
Because his AS was severe (mPG 44 mmHg, AVA 0.73 cm2) and there was a possibility of sudden cardiac death, treatment for AS was considered to be mandatory before pulmonary resection. In addition to his history of coronary artery disease and thoracic aortic aneurysm, his logistic euroSCORE was relatively high (39.8%). Based on these data, conventional AVR was considered to be risky. TAVI was therefore selected for AS, and a trans-apical TAVI with left-sided intercostal thoracotomy was successfully performed without postoperative complications (Fig. ).
We performed surgery for lung cancer 70 days after TAVI. Perioperative heparin bridging was performed for the low-dose aspirin therapy he had been taking. Right middle and lower lobectomy with mediastinal lymph node dissection was performed. We initially tried to perform video-assisted thoracic surgery (VATS); however, severe adhesion was present in the right chest cavity due to the effects of coronary artery bypass grafting, which he had undergone for coronary artery disease. We therefore performed thoracotomy. The pathologic diagnosis was squamous carcinoma, pT1cN0M0 stage IA3. The postoperative course was uneventful. Fourteen months after surgery, the patient is doing well without relapse or cardiac symptoms.
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pmc-6277400-2
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A 75-year-old man with a history of chronic renal failure, hypertension, atherosclerosis obliterans, and spinal canal stenosis was referred to our hospital for the treatment of AS. He had undergone living-donor kidney transplantation 13 years earlier and had taken immunosuppressant agents. Moreover, before receiving kidney transplantation, he had been on hemodialysis for 15 years. TAVI was selected to treat his severe AS because of his medical history as described above.
At the preoperative examination for AS, CT showed an abnormal shadow in the right lower lobe (Fig. ). At this time, an inflammatory nodule was suspected, so we planned to follow this abnormal shadow by CT. TAVI was performed through a retrograde transfemoral approach successfully without postoperative complications. The shadow in the right lower lobe enlarged, and lung cancer was suspected (Fig. ). A transbronchial lung biopsy was performed, and the pathologic examination revealed adenocarcinoma. The clinical stage was stage IB, so we planned surgery.
We performed right lower lobectomy 9 months after TAVI. Perioperative heparin bridging was performed for the low-dose aspirin therapy he had been taking. Thoracotomy was needed due to the presence of severe diffuse adhesion of the entire surface of the lung and right chest cavity, probably due to pleuritis. Right lower lobectomy was performed without complications. The pathologic diagnosis was squamous carcinoma, pT1bN0M0 stage IB. The postoperative course was uneventful. Eight months after surgery, he is doing well without recurrence.
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pmc-6277858-1
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A 10 year old white girl with severe (class 3: BMI ≥140% of the 95th percentile for age and sex) obesity and otherwise normal development presented to the Pediatric Weight Management Clinic with her mother. The mother reported that the patient had been at the 75th percentile for height and weight for most of the patient's life but she experienced a “20 to 30 pound” weight gain over the past year. The mother further explained that this recent weight gain coincided with treatment of seasonal allergies with montelukast and she wondered if this may have been the cause of the weight increase. The patient had no prior weight loss attempts.
The patient was born full term, weighing 3.18 kg. The mother's pregnancy was uncomplicated, as was the patient's newborn course. Aside from seasonal allergies, the patient was healthy. She had no history of hospitalizations, surgeries, or mental health concerns. She was not taking any medications.
The patient was eating regularly-spaced meals consisting primarily of highly processed foods and simple carbohydrates (e.g., pastries for breakfast, potatoes with cheese for dinner). The family was eating fast food three times per week on average. The patient endorsed having a big appetite and feeling hungry all the time. She was eating while watching TV and when bored. She denied binge eating, loss of control eating, emotional eating, sneaking/hiding food, or eating during the night. Her physical activity was limited to gym class at school three times per week.
The patient was living with her mother and her mother's partner. The patient's parents divorced when she was very young and the mother's partner had been living with them since the patient was a toddler. The patient saw her biological father rarely. She had no siblings. She was attending fourth grade and enjoyed reading and writing. The mother and her partner worked full-time and the patient was cared for by a baby sitter after school a few times per week. They had no food insecurity. The family history was notable for obesity in both biological parents and type 2 diabetes in the maternal grandmother.
The patient's review of systems was negative. She reached menarche several months prior to presentation. On physical examination, her weight was 70.31 kg (155 lbs.), height was 142 cm (4'8”), and BMI was 34 kg/m2 (145% of the 95th percentile). Her blood pressure was 105/65 mmHg and pulse was 74 beats per minute. Her physical examination was normal. The results of her fasting labs were: total cholesterol 176 mg/dL (normal: < 170 mg/dL), HDL-c 49 mg/dL (>45 mg/dL), LDL-c 96 mg/dL (< 110 mg/dL), triglycerides 157 mg/dL (< 90 mg/dL), ALT 27 (< 50 U/L), AST 29 (< 50 U/L), glucose 98 mg/dL (70-99 mg/dL), and HbA1c 5.5% (0-5.6%). Her Pediatric Symptom Checklist (routinely obtained in the Pediatric Weight Management Clinic) score was 8 (> 28 is considered abnormal).
The patient and family were started on a program of lifestyle modification therapy and responded particularly well with decreasing fast food consumption and liquid calories. Further, the patient started bringing her lunch to school instead of eating the school fare and was able to keep a food log almost daily. The patient's physical activity, however, continued to be limited. Over the course of 5 months, the patient's BMI decreased 5 units (15%), from 34 kg/m2 to 29 kg/m2 (145% of the 95th percentile to 125% of the 95th percentile).
At the end of the 5 month period, coinciding with the end of the school year and beginning of summer vacation, the patient's sleep/wake cycle became irregular. Because she did not like the hot weather, she chose to stay inside all day. Her mother left prepared meals for the patient to encourage healthy eating while mom was at work. Despite this, the patient's BMI began to trend upward from 29 kg/m2 to 31 kg/m2 over the summer months. Upon school resuming in the fall, the patient's sleep/wake cycle normalized and eating behaviors and patterns improved, returning to those of the previous school year. The patient's BMI stabilized for a few months but then increased further. The patient expressed frustration because she believed that she was eating well, which was indeed reflected in her daily food logs. She continued to attend monthly visits with the Pediatric Weight Management Clinic dietician, psychologist, and pediatrician with specialized training in obesity medicine. Yet, the patient's BMI continued to increase such that by 2 years after her initial appointment, the patient's BMI returned to baseline (135% of the 95th percentile) (see Figure ).
Suspecting that metabolic adaptation was causing the patient's weight rebound, adjunct pharmacotherapy was recommended. Orlistat was considered but not started because of concern about gastrointestinal side effects and lack of insurance coverage. Metformin may have been another reasonable option but the patient's fasting glucose and HbA1c were in the normal range and she did not have acanthosis nigricans on physical examination which would have suggested insulin resistance. She was ultimately started on topiramate 75 mg daily in addition to ongoing LSMT. She and her mother were cautioned that although topiramate is not FDA-approved for the indication of obesity (in children or adults), multiple studies have demonstrated clinically-meaningful weight loss efficacy in adults. Additionally, it was explained that the side effect profile in children is well established stemming from its use for epilepsy treatment.
After 4 months of treatment with topiramate, the patient's BMI trajectory plateaued yet was not decreasing as was desired. Recognizing that the combination of topiramate and phentermine is the most effective weight loss medication currently available for adult obesity, phentermine 15 mg daily was added to the topiramate 75 mg daily. The patient and mother were informed that phentermine is FDA-approved only for individuals older than 16 years and for “short-term use.” With combination treatment for ~22 months, the patient experienced good BMI reduction, from 34.1 to 25.7 kg/m2. Her blood pressure and heart rate were monitored regularly and though her blood pressure did not increase, her heart rate increased slightly from 60 to 70 s, in line with the mechanisms of action of phentermine (stimulant-like effects). Later, the patient reported that she was experiencing some “memory” issues but noted no change in her academic performance. Although it seemed unusual for this type of symptom to emerge 10 months after starting topiramate, the topiramate dose was decreased from 75 to 50 mg daily and the memory issues resolved. Written informed consent was obtained from the parent of the patient for the publication of this case report.
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pmc-6277870-1
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A 54-year-old white male patient presented with decreased libido and slow thinking that started 6 years before and worsened over the last 4 years. He did not report visual complaints or headaches. He had a height of 1.70 m, a weight of 68 kg, and a BMI of 23.5 kg/m2. He presented with paleness of the skin and mucous membranes, dry skin, and weak and brittle nails. He had a blood pressure of 90/60 mmHg. Campimetry was normal.
Initial hormonal assessments showed a prolactin level of 1,947 ng/mL, LH of 1.6 mIU/mL, FSH of 1.3 mIU/mL, and total testosterone of 258 ng/dL. As shown in Figure , the use of weekly cabergoline doses of 1.5 mg resulted in a nearly two-thirds decrease in prolactin concentration in the first 3 months. However, in subsequent follow-ups, weekly doses of 2.0 mg and up to 3.5 mg did not normalize the prolactin concentration. Over the last 10 months, there was no change in prolactin concentrations when the reduced weekly dose of 2.0 mg was compared to the 3.5 mg dose that was used for 124 months.
After 4 months of treatment with cabergoline, the concentration of testosterone was 186 ng/dL, and intramuscular replacement therapy with testosterone propionate, testosterone fempropionate, testosterone isocaproate, and testosterone decanoate was performed every 21 days; the patient reported improvement of sexual dysfunction. After starting the testosterone replacement therapy, testosterone concentrations ranged from 471 to 598 ng/dL. PSA was always below 2.53 ng/mL.
The initial concentration of cortisol was 1 μg/dL, and replacement therapy was started with 5 mg of prednisone. After 1 year, recovery was observed with cortisol concentrations of 13 μg/dL and adrenocorticotropic hormone (ACTH) of 28.4 pg/mL, and the replacement therapy was suspended. TSH was 3.62 mIU/mL, FT4 was 1 ng/dL, and treatment with 75 μg levothyroxine was started in the morning. At the last assessment, he used 100 μg levothyroxine and the FT4 was 1.42 ng/dL. Insulin-like growth factor-1 (IGF-1) concentrations were always within the normal limits for the age group of the patient.
The first Doppler echocardiogram was performed after 44 weeks of treatment with cabergoline and showed minimal reflux in the mitral and tricuspid valves. The last assessment, after 120 months, did not show alteration of these valves compared to the first assessment.
Since the start of the treatment with cabergoline and the hormone replacement therapy, the patient's thinking improved, his dry and pale skin improved, and he became more active, including running on the street daily.
MRI of the sella turcica showed a pituitary macroadenoma with invasion of the cavernous sinuses and compression of the optic chiasm, as shown in Figure . Magnetic resonance images of the sella turcica, obtained after 14 years of treatment, are presented in Figures and show a small lesion with cystic appearance near the left carotid.
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pmc-6277870-2
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A 62-year-old white male patient presented with type 2 diabetes mellitus, dyslipidemia, multiple valvopathies, systemic arterial hypertension, and subacute subdural hematoma of the left frontal lobe. During preoperative examinations for subclinical subdural hematoma drainage, MRI was performed which confirmed a large solid tumor lesion in the hypothalamic-pituitary region, as described in Figure .
In the systematic interrogation, he mentioned decreased libido and sexual impotence for the past 14 years. He had no visual complaints, was practicing target shooting, and campimetry was normal. He had a height of 1.67 m, a weight of 71.5 kg, and a BMI of 25 kg/m2. He had a pancardiac systolic murmur +++/4+. Blood pressure was 130/90 mmHg. Doppler echocardiography showed a double aortic valve injury with predominance of stenosis, concentric left ventricular hypertrophy with normal global and segmental systolic function, and left ventricular diastolic dysfunction.
Initial hormonal assessment showed a prolactin concentration of 14,992 ng/mL, FSH of 1.84 mIU/mL, LH of 1.2 mIU/mL, and total testosterone of 260 ng/dL. Treatment with cabergoline was initiated, and the assessment of prolactin concentration is presented in Figure . Treatment started with 1.0 mg per week, and there was a substantial reduction in the concentration of prolactin after 2 months: from 14,992 to 1,712 ng/mL. However, subsequent treatment was not sufficient to decrease prolactin concentrations as strongly; despite increasing the dose to 3.5 mg per week for 48 months, prolactin levels remained at 840 ng/mL. From 52 weeks of treatment to the last assessment at 162 weeks, he used 2.0 mg per week of cabergoline and his prolactin concentration remained above 1,000 ng/mL. However, at 70 years of age and after 95 months of treatment with cabergoline, he had a cerebrovascular accident due to an aneurysm rupture. One year after this event, he developed psychiatric changes that were controlled with quetiapine and mirtazapine. Increased prolactin concentrations between weeks 102 and 148 were most likely due to the concomitant use of these two drugs in addition to 2 mg of cabergoline.
After 4 months of treatment, the patient still complained of sexual impotence, and intramuscular replacement therapy with testosterone propionate, testosterone fempropionate, testosterone isocaproate, and testosterone decanoate was performed every 21 days. The patient reported improvements regarding sexual dysfunction. In the last two years, he underwent replacement therapy using a 2% testosterone gel applied to both armpits. After starting the hormone replacement therapy, testosterone levels increased from 480 to 670 ng/dL, FSH from <0.07 to 3.78 mIU/mL, and LH from <0.07 to 3.49 mIU/mL.
Assessment of thyroid function showed TSH ranging from 1.54 to 1.86 mIU/mL and FT4 from 0.94 to 1.1 ng/dL. Hypothyroidism secondary to the hypothalamic and pituitary lesion with TSH of 1.7 μIU/mL and FT4 of 0.83 ng/dL was observed 2 years later, and replacement therapy with 50 μg of levothyroxine was started. Assessment of adrenal function showed cortisol levels at 8 h ranging from 16.3 to 25 μg/dL. IGF-1 concentration was always normal for the age group.
In addition to cabergoline, quetiapine, and mirtazapine, the following drugs were used together: hydrochlorothiazide, losartan, nifedipine, bisoprolol, indapamide, potassium chloride, aspirin, and rosuvastatin.
MRI performed after 17 years of treatment is shown in Figure and shows the almost complete disappearance of the tumor (Figure ).
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pmc-6277870-3
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A 9-year-old white male patient underwent MRI during investigations for short stature. Findings showed a tumor mass in the hypothalamic-pituitary region, as described in Figure . He underwent transcranial surgery, and a biopsy of the lesion was performed. Histochemical analysis showed that it was a pituitary tumor and the concentration of prolactin was 2,400 ng/mL.
Treatment started with bromocriptine, 5.0 mg per day, and he was later treated with cabergoline. The assessments of prolactin concentration in response to treatment with bromocriptine is shown in Figure . After 13 months of treatment, the concentration of prolactin was 360 ng/mL, and the dose of bromocriptine was increased to 12.5 mg per day. After 34 months of treatment with bromocriptine, the concentration of prolactin was 493 ng/mL.
He was then diagnosed as having resistance to bromocriptine, and the medication was replaced by 1.0 mg per week of cabergoline. After 5 months, the concentration of prolactin was 668 ng/mL, and the dose of cabergoline was increased to 2.5 mg per week. During the follow-up, the dose of cabergoline was gradually increased and the maximum dose used was 4.5 mg per week from month 115 of treatment. After 145 months of treatment, the concentration of prolactin was 44.57 ng/mL. The patient completed 15 years of treatment including the period he was using bromocriptine.
At age 14, he had a height of 1.52 m, a weight of 48 kg, and was in stage III of Tanner. The bone age was 15 years. At age 15, he had a height of 1.54 m, showing that the growth rate remained low for the age group. Development of secondary sexual characteristics occurred without hormonal intervention. At that time, the concentration of IGF-1 was 170 ng/mL, which is considered low for the age group; FSH concentration was 2.3 mIU/mL, LH was 2.1 mIU/mL, testosterone was 470 ng/dL, TSH was 1.6 mIU/mL, FT4 was 1.3 ng/dL, and cortisol was 11.3 μg/dL. Assessments of GH secretion using stimulation tests of insulin- and clonidine-induced hypoglycemia showed deficiencies in secretion. GH replacement therapy was started subcutaneously at a dose of 5.0 IU per day. At age 16, using GH, the concentration of IGF-1 was 600 ng/mL, normal for the age group. The patient reached a final height of 1.62 m. At the last assessment, at age 28, the concentration of IGF-1 was 255.6 ng/mL, a result considered normal for the age group of the patient. Assessment of testicular function showed testosterone concentrations ranging from 241 to 670 ng/dL, FSH from 1.84 to 3.78 mIU/mL, and LH from 1.2 to 3.49 mIU/mL. Assessment of thyroid function was always normal with TSH ranging from 1.1 to 3.1 mIU/mL and FT4 from 0.9 to 1.3 ng/dL. Assessment of adrenal function was always normal, with cortisol levels ranging from 9.7 to 20.9 μg/dL and ACTH ranging from 25 to 55 pg/mL. During the insulin-induced hypoglycemia test, a cortisol concentration of 30 μg/dL was observed.
The series of MRI of the sella turcica taken 41 months after treatment shows that the tumor remained virtually unchanged (Figure ). After 14 years, significant cystic degeneration of the tumor can be observed (Figure ).
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pmc-6277870-4
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A 50-year-old brown male patient complained of left ear problems, with otalgia, clogged ear, and tinnitus. He also had bloody nasal discharge and sputum. These symptoms started occurring 1 year before. His libido had decreased 5 years earlier. He did not have headaches. During the investigation, MRI of the sella turcica region was performed and showed a huge tumor mass with invasion of the sphenoid sinuses and nasal cavity, without suprasellar extension. There was also osteomastoiditis on the left. Sarcoidosis or Wegener's granulomatosis was initially suspected (images not shown).
The initial hormonal assessment showed a prolactin concentration of 2,600 ng/mL, LH of 1.31 mIU/mL, FSH of 2.03 mIU/mL, and total testosterone of 416 ng/dL. Changes in prolactin concentration during the 15 years of treatment with dopamine agonists are shown in Figure . A dose of 12.5 mg of bromocriptine was associated with a marked decrease in prolactin concentration (691 ng/mL) after 5 months of treatment, yet without normalizing it. It was then replaced by cabergoline at a dose of 1.5 mg per week for 3 years, with the maintenance of a high prolactin concentration up to 3,600 ng/mL. Increasing the dose to 2.5 mg for 2 months and then to 3.5 mg per week for 10 years failed to normalize the prolactin concentration. Six years after starting the treatment, the concentration of prolactin was 4,470 ng/mL, and the patient underwent transsphenoidal surgery and radiotherapy. After these events, prolactin concentration decreased but was not normalized. Decreasing the dose to 2.5 mg per week during the last 12 months of observation resulted in a slight increase in prolactin concentration.
With 1.5 mg of cabergoline per week, there was a progressive improvement in tinnitus and hearing loss; however, these symptoms persisted. After 2 years, retroauricular and left ear pains became very intense; ethmoid, maxillary, and frontal sinus inflammation was observed, which improved with clarithromycin treatment.
Eighteen months after starting the treatment, testosterone levels were low, and he continued to complain of decreased libido; replacement therapy with testosterone propionate, testosterone fempropionate, testosterone isocaproate, and testosterone decanoate was started. This replacement therapy was maintained until the last assessment, after 15 years of treatment. The PSA always remained normal.
At the first assessment, he had a TSH concentration of 18.14 mIU/mL, FT4 of 0.77 ng/dL, and anti-thyroperoxidase antibody of 1,715 IU/mL. Replacement therapy with 75 μg of levothyroxine was started when fasting, which continued until the last assessment, after 15 years of treatment.
Before the transsphenoidal surgery, 6 years after starting the treatment, secretions of cortisol and ACTH were normal and, despite having low blood pressure (90/60 mmHg), there were no signs or symptoms of adrenal deficiencies. After surgery, replacement therapy with 5 mg of prednisone in the morning was started, which was discontinued after 1 year with no signs or symptoms of hormone deficiencies. Eight years later, it was necessary to resume the replacement therapy with 3 mg of prednisolone due to severe asthenia and postural hypotension. The initial concentration of IGF-1 was 187 ng/mL, and it ranged from 115 to 221 ng/mL, considered adequate for the age group.
Fourteen years after starting the treatment with dopamine agonists, including 10 years of using 3.5 mg of cabergoline, a Doppler echocardiogram showed a tricuspid valve with mild reflux.
Assessment of bone mineral density after 2 and 9 years of follow-up was compatible with lumbar spinal osteoporosis. Therapy with risedronate was started.
The patient developed severe depression symptoms after 4 years of treatment with cabergoline. He used 10 mg of escitalopram oxalate and 1 mg of alprazolam for 4 years. Escitalopram was replaced with 25 mg of agomelatine for 2 years. In the last five years, he used 100 mg of pregabalin twice a day and 1 mg flunitrazepam.
Assessment of tumor images before the treatment show an enormous tumor with invasion of the sphenoid sinus and nasal cavity; however, there was no suprasellar growth, and the optic chiasm was always preserved. After using 12.5 mg of bromocriptine for 5 months and 1.5 mg of cabergoline for 20 months, the images still show the sphenoid sinus occupied with heterogeneous material; nevertheless, a reduction in the tumor size was already evident because the pituitary was already visible and occupied the ventral part of the sella cavity, and it was possible to identify the anterior and posterior pituitary and the pituitary stalk (images not shown).
MRI performed 52 months after starting the treatment with dopamine agonists is shown in Figure . The lesion was reduced compared to the initial lesion, the pituitary and pituitary stalk appeared normal, the expansive lesion accompanied the temporal and occipital bones throughout the clivus and the sphenoid plane, the mass had inferior and anterior components in the rhinopharynx, and there were no signs of carotid envelopment.
The patient underwent surgery through the transsphenoidal route, 7 years after starting the treatment, and received radiotherapy with 4,500 rads after 8 years of treatment. Images obtained 1 month after the surgery still show a lesion in the clivus, extending to the sphenoid sinus and the rhinopharynx (images not shown).
Eleven years after starting the treatment with dopamine agonists and 5 years after surgery and radiotherapy, the tumor almost disappeared, although there were still alterations in the sphenoid sinus and heterogeneous contrast in the clivus. Figure illustrates this situation with the remaining tumor in the sphenoid sinus but showing the pituitary and optic chiasm.
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pmc-6277870-5
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A 22-year-old white female patient reported menarche at age 12, with irregular cycles and menstrual delays of up to 6 months. She had acne that worsened when she was 18 years old. The initial hormonal assessment showed a prolactin concentration of 659 ng/mL. MRI of the sella turcica was performed confirming a pituitary tumor, as shown in Figure .
Treatment was started with 2.0 mg per week of cabergoline. The assessment of prolactin concentration in response to cabergoline is shown in Figure . During the follow-up, she still presented menstrual irregularities and galactorrhea, and prolactin concentration remained elevated. Approximately 3 years after starting the treatment, she presented intense headaches that lasted a few hours. After 4 years of treatment, using 2.0 mg per week of cabergoline, the concentration of prolactin was 189 ng/mL. After 5 years of treatment, she was reassessed at the current service and had a height of 1.54 m, a weight of 69 kg, and a BMI of 29.11 kg/m2. While using 2.0 mg per week of cabergoline, hormonal measurements showed a prolactin concentration of 311 ng/mL, FSH of 4 mIU/mL, LH of 7.1 mIU/mL, and estradiol of 22.3 pg/mL. The dose of cabergoline was then increased to 3.5 mg per week and, after 10 months of using that dose and 6 years after starting the treatment, the concentration of prolactin was 367 ng/mL. The patient then underwent transsphenoidal surgery resulting in the disappearance of the galactorrhea and normalization of the menstrual cycles. Prolactin concentrations analyzed three and 18 months after the surgical procedure were 1.9 and 4.9 ng/mL, respectively (Figure ).
Figure shows the MRI of the sella turcica prior to treatment with cabergoline, which shows a lesion with heterogeneous contrast without invasion of the cavernous sinus but with close association with the left carotid artery. Four years after starting the treatment with cabergoline and 2 months before the surgery, there was no regression of the tumor (Figure ). Three months after the transsphenoidal surgery, the pituitary adenoma was completely removed, and the stalk and pituitary remained diverted to the right (Figure ).
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pmc-6277870-6
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A 22-year-old white female patient complained of dizziness, nausea, and vertigo for the last 4 years; she was diagnosed with labyrinthitis. Treatment with flunarizine was initiated and the condition partially improved, except nausea that progressively worsened. She also presented galactorrhea and amenorrhea for the past 4 years. Menarche occurred at age 15 and menstrual cycles remained irregular for 6 months; since then, she presented with amenorrhea. Regarding her family history, she reported having a fourth cousin with a pituitary tumor (case 3 of the present study). She had a height of 1.59 m, a weight of 60 kg, and a BMI of 23.8 kg/m2. She had a blood pressure of 120/70 mmHg, and galactorrhea was observed.
The initial hormonal assessment showed a prolactin concentration of 430 ng/mL, FSH of 4.1 mIU/mL, and LH of 2.2 mIU/mL. Treatment with 2.5 mg bromocriptine per day was started. Prolactin concentration in response to treatment with bromocriptine is shown in Figure . The concentration of prolactin 6 months after starting the treatment was 354 ng/mL. The dose of bromocriptine was increased every 6 months at subsequent visits to 5.0, 10, and 12.5 mg per day. However, after 28 months of follow-up, the concentration of prolactin was 155 ng/mL and, therefore, the patient was diagnosed as having resistance to bromocriptine. This was replaced by 1.0 mg per week of cabergoline. After 4 months on 1.0 mg per week of cabergoline, the concentration of prolactin was 126 ng/mL, and she reported a menstrual cycle which lasted 3 days. At the time, surgery was indicated, but the patient preferred to maintain the drug treatment and continued the treatment with 1.0 mg per week of cabergoline. After 15 months of using cabergoline and 43 weeks after starting the treatment, the concentration of prolactin was 103 ng/mL, and the patient reported regular menstrual cycles, improved libido, and the disappearance of galactorrhea. Since then, the dose of cabergoline has been gradually increased to the maximum dose of 3.0 mg per week, 6 years after starting the use of this agonist. The patient had a collateral effect with increasing dose to 3.5 mg per week: nausea and vomiting. The patient continued using 3.0 mg for 4 years, and the concentration of prolactin was 34.17 ng/mL. The dose of cabergoline was reduced to 1.0 mg per week, but the concentration of prolactin increased to 67 ng/dL. Increasing the dose to 1.5 mg for 1 year decreased the concentration of prolactin to 18.7 ng/mL. At that time, the dose was decreased to 0.5 mg per week and the final assessment, after 2 years, showed a prolactin concentration of 24.6 ng/mL. This corresponds to 16 years from the start of the treatment with dopamine agonists and 14 years of using cabergoline.
The first assessment of the sella turcica was performed by computed tomography with contrast. A heterogeneous mass was observed in the pituitary region, predominantly on the left, which widened the sella turcica and destroyed the adjacent bone structures, superficially invading the suprasellar cistern and inferiorly the sphenoid sinus. There was no compression of the optic chiasm. The mean size of the lesion was 2.8 × 3.0 × 3.0 cm. Six months after starting the treatment with 2.5 mg per day of bromocriptine, MRI of the sella turcica showed an expansive lesion of 20 × 15 × 12 mm in the left half of the anterior pituitary with invasion of the cavernous sinus, enveloping the left carotid artery and widening the sella floor on that side. The pituitary stalk was diverted to the right.
After 4 months on 1.0 mg per week of cabergoline, MRI of the sella turcica showed an expansive lesion of 12 × 10 × 8 mm, compromising the left half of the anterior pituitary with lateral expansion to the corresponding cavernous sinus. A discrete deviation of the pituitary stalk to the right was observed, without an existing suprasellar component. At the time, surgery was indicated, but the patient preferred to maintain the drug treatment and continued treatment with 1.0 mg per week of cabergoline. After 28 months of treatment with cabergoline, MRI of the sella turcica showed a nodular lesion of 0.4 cm in the left half of the anterior pituitary. She used 3.0 mg per week of cabergoline until completing 116 months of treatment, and the MRI performed on that occasion showed an increase in the size of the sella turcica, which was filled by cerebrospinal fluid with a small volume of pituitary glandular tissue on the floor, featuring a partially empty sella.
The images described above were not presented.
Assessments of thyroid function showed TSH ranging from 1.46 to 3.89 mIU/mL and FT4 ranging from 0.56 to 0.94 mIU/mL, consistent with the diagnosis of secondary hypothyroidism. The patient uses 50 μg per day of levothyroxine.
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pmc-6277967-1
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A 35-year-old, non-smoking man suffered from coughing with blood-tinged sputum for three months and eventually developed intermittent low-grade fever. He mentioned that the cough was episodic, consuming, with mild reddish-brown sputum, and had progressed over the last month. He was admitted to the local hospital, and a CT scan demonstrated a cystic heterogeneous lesion over the left upper lobe (LUL) of the lung, measuring 7.0 × 6.0 × 5.0 cm, in the left upper paramediastinal region (Fig. A). Under the impression to rule out the possibility of malignancy with necrosis, ultrasound-guided fine-needle aspiration of the mass was arranged and demonstrated pus-like material. The culture was positive for H. influenzae, and the cytology was negative for malignant cells. His cough persisted despite antibiotic treatment for three weeks with Augmentin, Cefuroxime, Ciprofloxacin, and Cefepime, each over a course of 5–7 days. A CT scan was again arranged and disclosed a progressively extending multiloculated, thick-walled cystic lesion with minimal air content cavity lesions at the left apical lung with pleural effusion (Fig. B). Bronchoscopy showed no evidence for endobronchial lesions or malignant cells upon cytology. The patient was then transferred to our hospital for further treatment. Ultrasound-guided aspiration was repeated and demonstrated a hypoechoic mass lesion at the upper left lung field with multiple cystic changes that was negative for malignant cells, and neither bacterial, mycobacterial, nor fungal growth was detected at this time. The patient refused surgical intervention and was discharged two weeks later in an ameliorated state. After that, he was scheduled three times for an outpatient department (OPD) follow-up, and plain chest films exhibited regression of the previous lesion. The patient did not present any specific complaints. Seven months after his last OPD visit, he developed haemoptysis again, and this time, the CT scan demonstrated a residual thick-walled cavitary lesion 7.0 × 5.0 cm in size (Fig. C), suggesting a residual organizing lung abscess at the left upper lung with newly found bronchiectasis. Due to the persisting lesion and failure of the medical treatment, the thoracic surgeon was consulted, and we performed a left VATS. This indicated a tumour mass located in the anterior mediastinum with severe adhesion to the aortic arch, left main pulmonary artery root, phrenic nerve, and LUL. The resected mass measured 7.0 × 5.0 × 4.0 cm. It was encapsulated and demonstrated a cystic component containing hairs and sebum on sectioning. Microscopically, the specimen was compatible with mature cystic teratoma with mature epidermis, skin appendages, respiratory epithelium, pancreatic tissue, gastric-type mucosa, cartilage, and adipose tissue (Fig. ). The patient had an uneventful postoperative recovery and was discharged on the fourth postoperative day. He remained well afterwards and on 3-year follow-up. The patient’s written informed consent for publication was obtained.
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pmc-6278019-1
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A 12-year-old, spayed, female Shih tzu dog was referred for evaluation of multifocal cutaneous masses. The masses had appeared 7 weeks before visiting the hospital. On skin examination, generalized nodules on the dorsum, flank, tail, ear, eyelid, muzzle and multiple papules in the axillary, inguinal region and ventrum were found (Fig. a-c). The nodules were well-demarcated with erythema. No further abnormalities were detected, and superficial lymph nodes were found to be within normal size on palpation. Both hematology and serum chemistry analysis were within normal range.
Differential diagnoses for the skin lesions included epitheliotropic lymphoma, atypical histiocytoma, cutaneous histiocytosis, plasmacytoma and mast cell tumor. Incisional biopsies of the dorsal skin nodules revealed diffuse infiltrations of lymphocytes in the epidermis and dermis (Fig. a-b). Detection of neoplastic lymphocytes observed in the epidermis was consistent with Pautrier’s microabscess (Fig. a). Tropism for hair follicles and adnexal glands was observed in the dermis (Fig. b). Immunohistochemical results showed numerous CD3 positive (Fig. c) and CD79a negative cells (Fig. d), which indicated CETL. Treatment was initiated with isotretinoin (2 mg/kg, PO, once daily; Roaccutane, La Roche Pharma, Basel, Switzerland) in combination with IFN-α (1.5 × 106 IU/m2, SC, every other day; Roferon-A; La Roche Pharma, Basel, Switzerland).
The dog demonstrated clinical improvement within 4 days following the initiation of the multimodality therapy. The treatment was continued and almost all papules on the abdomen disappeared. There was complete disappearance of the nodules following the 3-month duration of therapy, indicating complete remission (Fig. d-f). The treatment discontinued after complete remission, and the case was followed up for 27 months without any evidence of recurrence or metastasis.
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pmc-6278019-2
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A 12-year old, castrated, male Miniature pinscher dog presented with history of generalized nodules and a ventral umbilical hernia. The umbilical hernia was first observed and the nodules were disseminated, which worsened over a period of 2 months with gradual increase in size (Fig. a, c, e and g). The owner reported that the dog received oral prednisolone and antibiotics for 2 weeks before this referral, but there was no improvement.
There was no enlargement of the peripheral lymph nodes on palpation and no other abnormalities were noted on the hematologic or serum biochemical examination. Dermatologic examination revealed generalized ulcerative nodules, erosion, erythema and hyperpigmentation in the dorsum, ventrum, neck and perianal region. Multiple, 6 mm, punch skin biopsies were performed of the nodular lesions for histopathological evaluation. Impression cytology showed numerous neutrophils and phagocytized cocci bacteria and the fine needle aspiration biopsy revealed cluster of intermediate to large lymphocytes with multinuclear cells. Histopathological results showed proliferation of numerous round cells and mitotic figures were identified in the epidermis and dermis (Fig. a-b). Through immunohistochemical staining, numerous round cells were CD3 positive, confirming T cell origin (Fig. c-d). Based on the skin lesions and histological findings, the dog was diagnosed with CETL.
The dog was initially treated with retinoic acid (1.5 mg/kg, PO, once daily; Roaccutane; La Roche Pharma, Basel, Switzerland) and IFN-α (2 × 106 IU/m2, SC, every other day; Roferon-A; La Roche Pharma, Basel, Switzerland). 2 weeks later, there was marked improvement in the skin condition showing approximately more than 50% regression in the size of the nodules, termed as partial remission (Fig. b, d, f and h). The dog was treated for 2 months and clinical condition was well controlled without any other side effects. The case was followed up for 10 months and there was no evidence of recurrence or metastasis.
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pmc-6278079-1
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A 46-year-old man, previously well, presented at Kapit Hospital, Sarawak, Malaysian Borneo with fever, chills and rigors for 2 days. It was associated with severe epigastric and left hypochondrium pain and loose stool. There was no preceding history of trauma. Upon arrival to the emergency unit, his general condition was stable. Physical examination revealed blood pressure of 123/86 mmHg, pulse rate of 114 beats/min and temperature of 39 °C. His respiratory rate was 23 breath/min and the oxygen saturation on room air measured by pulse oximetry was 97%. The abdomen was generally tender and guarded, maximal at the epigastric region. Bedside focused abdominal ultrasonography revealed free fluid in the abdomen. Chest radiograph did not reveal any obvious sign of pneumoperitoneum.
Haematological analysis showed haemoglobin of 11.5 g/dL, white blood cell count of 8.2 × 103/μL and platelet count of 77 × 103/μL. His creatinine level was 89 μmol/L and electrolytes were within the normal range. The results of the liver function tests were as follows: aspartate aminotransferase 15 U/L, alanine aminotransferase 11.8 U/L and total bilirubin 22.9 μmol/L. Serum amylase was normal. The arterial blood gas revealed good oxygenation and absence of metabolic disturbance (pH 7.44, PaO2 87 mmHg, PaCO2 34 mmHg, bicarbonate of 22.3 mmol/L and base excess − 1.8 mmol/L). The serum lactate measured was 0.8 mmol/L.
Plasmodium knowlesi was identified by examination of a Giemsa-stained blood film and the parasitaemia was estimated to be 240 parasites/μL blood. Finger prick blood samples from the patient were spotted on filter paper and sent to the Malaria Research Centre at Universiti Malaysia Sarawak where DNA was extracted as described previously []. The DNA was examined by nested PCR assays specific for P. knowlesi, P. falciparum, P. vivax, P. malariae and P. ovale, which indicated the patient was infected with P. knowlesi [].
There was no formal radiological imaging done, such as abdominal ultrasonography or computed tomography, since this service is unavailable at Kapit hospital. Four tablets of artemether–lumefantrine were given upon laboratory diagnosis of P. knowlesi malaria.
The patient later developed hypotension despite fluid resuscitation and required single inotropic support, noradrenaline at a dose of 0.2 mcg/kg/min. He simultaneously experienced worsening peritonism. The surgical team was consulted, and he was posted for emergency exploratory laparotomy after stabilization. The anti-malarial was changed to intravenous artesunate in view that the patient was vomiting.
Intraoperatively, haemoperitoneum was observed upon entering the abdomen, with blood clots seen overlying the splenic region. Gross examination of the spleen revealed tear of splenic capsule and subcapsular haematoma at the superior pole (Fig. ). Otherwise, the spleen was of average size, measuring 12 cm. Total splenectomy was performed and no visceral perforation was seen. The estimated blood loss was 7 L. During the operation, he required high dose of inotrope infusion: noradrenaline up to 2 mcg/kg/min, adrenaline up to 1 mcg/kg/min and dobutamine constant at 5 mcg/kg/min, fluid resuscitation (2 L of crystalloid and 1.5 L of colloid solution) and disseminated intravascular coagulation (DIC) regime transfusion due to massive blood loss. Postoperatively, the patient was managed in the high dependency ward of Kapit Hospital. There, he remained stable, inotrope was weaned off and he was extubated on the next day after the operation. He was administered with intravenous artesunate for 4 days. It was later switched to oral artemether–lumefantrine which he completed following a total of 6 doses. Subsequent blood films were negative for malaria parasites.
Histopathological examination revealed splenic tissue with focal breaching of the capsule with areas of haemorrhage, consistent with splenic haemorrhage. There were a few brownish pigments within the spleen indicative of malarial pigment. The patient recovered well after the operation and was discharged after 9 days of hospital stay. He was given routine follow up post-malaria treatment and later administered with the routine post-splenectomy vaccinations against Streptococcus pneumoniae, Neisseria meningitidis and Haemophilus influenzae. One month later, he was well upon review at the surgical outpatient clinic.
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pmc-6278094-1
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A 57-year-old white woman presented to the emergency department of the hospital in Novara, Italy, with sudden ocular pain and blurred vision in her left eye. The best corrected visual acuity (BCVA) was 20/20 in her right eye and 20/200 in her left eye. Her right eye was normal. Her left eye anterior segment showed an aqueous flare and the presence of cells and keratic precipitates without posterior synechiae. Intraocular pressure was 14 mmHg in her right eye and 20 mmHg in her left eye. A fundus examination showed an intense vitreitis and a focal necrotizing retinochoroiditis above the optic disc (Fig. ). As the pigmented chorioretinal scar adjacent to the active lesion was not visible, a clinical diagnosis of suspected primary ocular toxoplasmosis was made. The diagnosis had been confirmed by anamnestic data (our patient adopted a wildcat a few months before). Serology for T. gondii (IgM and IgG) was positive, but it was negative for other common uveal infections. Necrotic herpetic retinopathies, cytomegalovirus retinitis, syphilitic chorioretinitis, and tuberculous chorioretinitis were excluded by serological tests. In addition, a chest X-ray to detect hilar adenopathy of sarcoidosis was performed. The result was negative. After that, a systemic antibiotics combination therapy with pyrimethamine and sulfadiazine was performed and a steroid therapy with prednisone was started. Two months after healing, the inflammation completely disappeared. Analyzing the fundus, a non-pigmented atrophic chorioretinal scar without signs of vitreitis was clearly visible in the primary lesion site and a clinical examination showed that the BCVA was 20/25 in her left eye.
Despite the vitreitis (Fig. –, –), SS-OCT and OCTA (Triton Plus®, Topcon Corporation, Tokyo, Japan) were performed before and after the resolution of the disease. In particular, the SS-OCT showed nerve fiber swelling and choroidal thickening (Fig. ). The OCTA performed on the lesion showed an obliteration of the retinal capillary, choriocapillary, and deep choroidal vessels (Fig. , ). Fluorescein angiography (FA) showed a hypofluorescence during the early phase, followed by a progressive hyperfluorescence that developed after the leakage phase; on the other hand, indocyanine green angiography (ICGA) showed a hypofluorescent lesion with characteristic hypofluorescent perilesional satellite lesions.
After healing, an SS-OCT performed on the lesion showed a hyper-reflective dome-shaped intraretinal mass involving the entire retinal thickness, associated with an increasing retinal thickness on the scar site (Fig. ). The retinal layers within the mass could no longer be recognized. The choroid had a normal thickness. An OCTA performed on the lesion showed a persistent retinal capillary plexus and a choriocapillaris failure with partial reperfusion of the deep choroidal vessels (Fig. , ).
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pmc-6278244-1
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In May of 2006 a 20 year-old woman presented to the National Institutes of Health (NIH) Clinical Center for evaluation. Her chief complaint was “I am not feeling like myself.” She reported experiencing hot flashes, night sweats, insomnia, occasional crying episodes, sadness, and an unpleasant jittery feeling. She had experienced loss of interest in activities she normally enjoyed. She also complained of waking up in the middle of the night with intense hunger. At age 18, she developed symptoms of severe depression that required her to take medical leave from her freshman year of college. Since then she was on numerous psychotropic medications and at the time of admission was on an extensive and complex regimen. By report of the patient and her mother, her depression had been relentless and difficult to treat.
Here is how the patient described the situation:
“I left my university on medical leave and spent my freshman year in bed or at doctors’ offices. No one knew what was wrong with me, so they kept referring me to different doctors and prescribing more medicines to treat the symptoms. The psych docs sent me to the medical docs and the medical docs sent me to the psych! It was the most frustrating, upsetting, and debilitating year of my life.”
Cascade genetic testing at 4 years old had uncovered the patient carried an FMR1 premutation (100–110 CGG repeats). Her older brother was found to have fragile X syndrome by genetic testing at age 9 years. Her mother and aunt also carried an FMR1 premutation and both had experienced “premature menopause.” The patient reported menarche occurred at age 11. She never established regular menses. She began taking the oral contraceptive at age 13 due to debilitating dysmenorrhea and menorrhagia. She stopped the oral contraceptives at age 16. From age 16 to 18 she experienced only “spotting” every 3 to 4 months. Between age 17 and 18 she began having night sweats. Her endocrinologist began her on levothyroxine replacement despite normal free T4 and TSH levels. Subsequent endocrinologic evaluation at a referral center suggested possible Cushing’s syndrome. She had an elevated morning serum cortisol, an elevated urinary free cortisol (twice the upper limit of normal), and an abnormal overnight dexamethasone suppression test.
On admission to the NIH Clinical Center, the woman had normal vital signs. Her body mass index (BMI) was 28.3 kg/m2. Physical exam revealed no stigmata of Cushing’s syndrome. Initial psychiatric consultation at the NIH concluded the young woman had a mood disorder due to her general medical condition, possibly primary ovarian insufficiency. Diurnal serum cortisol levels and 24-h urine free cortisol were normal. Transvaginal ultrasound findings were consistent with a diagnosis of POI [a 2 mm endometrial stripe, a very small left ovary (1.2 × 1.6 × 1.0 cm) with no visible follicles, and the right ovary could not be convincingly demonstrated]. Serum gonadotropins were in the menopausal range (FSH 46 and LH 26 IU/L). Serum estradiol was also in the menopausal range (23.3 pg/ml). Serum 21-hydroxylase antibodies, thyroid peroxidase antibodies, and thyroglobulin antibodies were all negative. Serum prolactin and MRI of the pituitary were normal. TSH and free T4 were normal.
The NIH discharged the woman with the newly recognized diagnosis of FXPOI. She began taking hormone replacement therapy (a daily dose of 100 microgram of estradiol by transdermal patch and cyclic medroxyprogesterone acetate by mouth 10 mg per day for the first 12 days of each month). She kept a menstrual calendar as instructed. After discharge her psychotropic medications and thyroid replacement were tapered, she menstruated regularly on the hormone replacement regimen, and her symptoms of anxiety and depression resolved.
Here is how the patient described the situation:
“Therefore, when NIH diagnosed me with FXPOI, I was thrilled. It was the first time in 3 years somebody understood me and could help me. All I wanted to do was to go to college and experience a typical 20-year-old life. I did, and it was fabulous!”
The young woman married in August 2012. She conceived shortly thereafter without medical intervention while on hormone replacement therapy. She terminated the pregnancy as prenatal genetic testing showed a full mutation in FMR1 in the fetus. Thereafter, she conceived two more pregnancies without medical intervention while on hormone replacement therapy, one in 2013 and one in 2016. Shortly prior to the conception in 2016 a physician at an IVF clinic suggested she proceed to egg donation and quoted a current chance of conception of less than 0.1%. This is despite her history of having had two prior pregnancies subsequent to the diagnosis of FXPOI. Both pregnancies and deliveries were unremarkable with the birth of two healthy girls.
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pmc-6278994-1
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The patient is a 46-year-old female with SCC of the breast. She initially had silicone gel breast implantation for breast augmentation in 1995. The implantation was surgically revised in 2002 and 2006. In 2014 she noticed hardening and swelling of her right breast. Because of the death of her husband, she did not seek immediate medical attention. She continued to have swelling and increased pain in the right breast. Magnetic resonance imaging (MRI) performed in January 2016 showed a large fluid collection surrounding the intact right silicone implant as shown in Figure . The case was managed by surgical drainage of fluid collection and capsulectomy. In February 2016, she underwent bilateral prosthesis explantation and bilateral capsulectomy. The pathology demonstrated a 4-cm moderately differentiated invasive SCC. It extended into the muscle, and in situ tumor was noted to extend to the peripheral margin. There was no perineural or lymphovascular invasion. Pathology of the left breast capsule showed chronic inflammation. Computed tomography (CT) of chest, abdomen and pelvis on February 2016 revealed absence of metastatic disease. The patient underwent re-excision of the remaining chest wall mass in March 2016. Pathology showed well differentiated SCC with negative margins. Chest wall fluid was negative for malignant cells. On slide review, it was noted that there was squamous epithelialization of the implant capsule with benign squamous epithelium on both sides. This indicated that the tumor is likely SCC of the implant capsule rather than primary SCC of the breast. Estrogen and progesterone receptor markers were negative as well. Afterwards, she received external beam radiation. She was treated with radiation while supine with free breathing. Four tangent beams were used to target the right breast with 50 Gray in 25 fractions, followed by a 10 Gray boost to the tumor bed delivered in five fractions. Radiation was delivered using opposed tangents completed in May 2016. No adjuvant chemotherapy was offered due to the rare histology and paucity of data. She followed up in clinic in June 2016 without complications or clinical recurrence.
Follow-up CT scan performed in August 2016 displayed a right upper lobe lung nodule and findings were suspicious for local recurrence (Figure ). She underwent right video thoracoscopy and right upper lobe wedge resection. The pathology was consistent with metastatic moderately differentiated SCC. The patient declined chemotherapy at this time. CT chest and abdomen at another hospital showed new cavitary lung nodules and right renal and psoas abscess. In February 2017, retroperitoneal fine needle aspiration of the right renal collection was positive for SCC. In June 2017, she was admitted to the hospital for abdominal pain and was found to have progressive disease. CT abdomen and pelvis with intravenous and oral contrast on 6/16/17 demonstrated a 6.1 cm x 5.7 cm heterogeneous lesion in the right kidney lower pole with invasion into the adjacent right psoas muscle (Figure ). Progressive metastases to the liver, lungs and retroperitoneum were noted as well. Ultrasound-guided fine-needle aspiration and core biopsy of the liver was positive for metastatic SCC with keratinization and necrosis.
Her hospital course was complicated by non-ST elevation myocardial infarction, recurrent anemia requiring transfusions, atrial fibrillation with rapid ventricular rate and hypotension. She was noted to have leptomeningeal spread. She was ultimately transferred from the medical intensive care unit to the palliative care unit for comfort care. She expired of her disease in July 2017, one year after her initial diagnosis of cancer.
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pmc-6278998-1
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An 84-year-old, Ecuadorian, non-smoker, Spanish-speaking male with a past medical history of dementia, hypertension, and hyperparathyroidism presented with cough productive of purulent sputum associated with persistent shortness of breath and non-exertional retrosternal chest pain for the past five days. The patient denied any fever, chills, or night sweats. Upon further questioning, the patient revealed that he was an ex-farm worker who worked in sugar cane fields where he was exposed to smoke daily for approximately 30-35 years. As per a family member, there has been no recent weight loss or hemoptysis noted. Prior to presentation, the patient was evaluated by his primary care physician and was prescribed a course of azithromycin without relief of his symptoms. Chest radiography revealed possible left lower lobe pneumonia and the patient was referred for admission to the hospital for the administration of intravenous antibiotics.
On presentation at the hospital, initial vital signs were a blood pressure of 141/79 mmHg, a heart rate of 112 beats per minute, an oxygen saturation of 96% on room air, a respiratory rate of 14 breaths per minute, and a temperature of 37.6 degrees Celsius. On physical examination, the patient seemed to be fatigued with the presence of bibasilar rhonchi on auscultation. The rest of the physical exam was unremarkable. Initial lab results are shown in Table .
The patient was admitted and intravenous ceftriaxone and azithromycin were initiated, with a working diagnosis of community-acquired pneumonia. Approximately 36 hours into hospitalization, the patient became dyspneic and acutely hypoxic with oxygen saturation dropping to 80% on room air and the patient was started on high flow oxygen via nasal cannula (HFNC). A repeat chest x-ray showed multi-lobular pneumonia (Figure ). Subsequent computed tomography (CT) of the chest showed diffuse bilateral scattered patchy and nodular opacities, with underlying scarring and fibrosis consistent with interstitial lung disease (Figure ), according to radio-clinical criteria.
Despite high flow oxygen, the patient’s condition continued to decline, becoming more hypoxic. HFNC was changed to bi-level positive airway pressure, as the patient remained hypoxic on HFNC. Additional testing, such as respiratory viral panel, mycoplasma, streptococcus pneumonia, and HIV were all negative. Gram staining of the sputum culture was also found to be negative. Bronchoscopy was declined by family members due to the invasive nature of the procedure. Eventually, the sputum culture for acid-fast bacilli (AFB) returned to be positive. The patient was expectantly started on rifampin, isoniazid, pyrazinamide, and ethambutol (RIPE) therapy.
Despite targeted therapy, the patient further deteriorated, requiring intubation and was transferred to the intensive care unit due to hypoxic respiratory failure. The patient was started and maintained on RIPE therapy due to the AFB positive sputum culture. The patient continued to remain hypoxic despite the RIPE therapy and expired six weeks after admission. It was thought that the combination of interstitial process combined with the overlapping mycobacterial infection caused the demise of this patient.
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pmc-6279000-1
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The patient is a 57-year-old obese female with a history of paroxysmal atrial fibrillation, hypertension, hyperlipidemia, and type 2 diabetes mellitus who was evaluated for symptoms of dyspnea. Cardiac catheterization findings included a chronic total occlusion of the right coronary artery with left to right collateral filling of the distal right coronary artery and significantly obstructive left anterior descending artery stenosis as confirmed by fractional flow reserve. Transesophageal echocardiography (TEE) revealed severe mitral regurgitation which appeared rheumatic in origin. She subsequently underwent mitral valve replacement, two vessel bypass using the left internal mammary artery to left anterior descending artery, and saphenous vein graft to posterior descending artery, left atrial appendage ligation, and left-sided maze procedure. Anticoagulation with coumadin was started on postoperative day 4 for a planned duration of three months. She was discharged on coumadin, aspirin, amiodarone, and metoprolol. She was seen in clinic two and three weeks post-discharge and was doing well with relief of her preoperative symptoms of dyspnea and no evidence of heart failure. However, she returned to the hospital five weeks post-discharge because of the sudden onset of right shoulder pain and right upper quadrant pain. She was noted be in atrial flutter with rapid ventricular response. Given the initial borderline hemodynamic instability, she was electrically cardioverted in the emergency room with a return to sinus rhythm. On this presentation, she was also noted to have hypothermia, leukocytosis, elevated liver enzymes, elevated troponin of 4.80 ng/ml, creatinine 1.57 mg/dl, estimated glomerular filtration rate (eGFR) of 36 mL/min/1.73 m2.L, hyponatremia (Na 131 mmol/L), hyperkalemia (K 6.2 mmol/L), and protime/international normalized ratio (PT/INR) 88.9 seconds and 7.2, respectively.
The initial working diagnosis was severe sepsis from possible acute cholecystitis leading to multiorgan damage. An initial workup focused on possible acute cholecystitis as the cause of her symptoms. Ultrasound of the abdomen showed gallbladder wall thickening at 7 mm and positive sonographic Murphy’s sign, with no definite evidence of cholelithiasis. Hepatobiliary scintigraphy showed no evidence of acute cholecystitis with a normal hepatic uptake and excretion of technetium 99 radioisotope, normal gallbladder ejection fraction, and no cystic or common bile duct obstruction. Magnetic resonance cholangiopancreatography showed no evidence of choledocholithiasis or biliary dilation. A computed tomography (CT) scan of the abdomen and pelvis without contrast showed an unremarkable liver, gallbladder, and pancreas but revealed a moderate-sized hemopericardium. Transthoracic echocardiogram (TTE) revealed only a small pericardial effusion. On subsequent days in the hospital, she had worsening dyspnea. Physical exam showed worsening right-sided heart failure. Laboratory evaluation revealed improved leukocytosis and renal function but worsening liver function tests with aspartate aminotransferase level steadily increasing from 27 to 571 to 1,063 and alanine aminotransferase from 22 to 404 to 1,026. It was also difficult to achieve adequate diuresis to alleviate her symptoms.
Other explanations were sought for the elevated liver enzymes, and a CT scan of the chest was performed. This showed a 5.1 x 8.26 cm pericardial hematoma indenting the right atrium (Figure ). Following this, she underwent a TEE which showed a large hematoma compressing the right atrium, causing a gradient on the right atrial inflow of 13 mmHg (Figures -). There was no involvement of the tricuspid valve.
She then underwent right-sided, video-assisted thoracoscopic surgery (VATS) with exploration and evacuation of the pericardial hematoma. However, given the continued return of bloody fluid from pericardial sac, the VATS was converted to an emergent re-do sternotomy and a 1 cm right atrial tear was located with active bleeding into the pericardium. The right atrial tear was surgically repaired, and the hematoma evacuation was completed. The postoperative course was uneventful. She was easily diuresed over the next couple of days with resolution of the right-sided heart failure. She was discharged home without restarting anticoagulation and has done well over the next several months without any recurrence of pericardial effusion, right heart failure, or atrial fibrillation (Figure ).
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pmc-6279001-1
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A 55-year-old female veteran presented with complaints of intermittent twitching of her left face. The twitching has been ongoing for the last two years and had been progressively worsening over a period of time. The twitching involved the eyelid and the angle of the mouth on the left side. She was initially treated with antispasmodic medications, which failed to provide relief. She also failed trials of botulinum toxin injections locally to treat the spasms.
Her past medical history was significant for hypertension and hyperlipidemia. She was on three antihypertensives for blood pressure control, which included amlodipine, metoprolol, and chlorthalidone. Her only other medication was a low-dose aspirin daily. She also smoked cigarettes, approximately one pack per day for more than 20 years. She is a veteran and served in the airforce in the post-Vietnam era.
On arrival to the emergency department, the patient was afebrile, with heart rate (HR) 80 beats/minute, blood pressure (BP) 146/84 mmHg, and she was saturating 95% on room air. Her physical examination was unremarkable apart from the occasional twitching noticed on the left side of her face. The laboratory evaluation was also unremarkable. Magnetic resonance imaging (MRI) of the brain with and without intravenous contrast showed an ectatic left vertebral artery compressing cranial nerve seven as it exited from the brainstem. (Figure ) The patient was referred to neurosurgery. She underwent a left-sided craniotomy and microvascular decompression of the dolichoectatic vertebrobasilar junction using Teflon paddies. The patient did well postoperatively, with an almost immediate resolution of the hemifacial spasms.
However, on Day 3 post-procedure, she started complaining of severe headaches. The headaches were associated with nausea, vomiting, left-sided earache, and low-grade subjective fevers. She was afebrile and hypertensive with a blood pressure of 170/100 mmHg. On physical examination, she appeared to be in distress and sutures were present in the left posterior auricular area. The rest of the examination was within normal limits. Her laboratory evaluation was remarkable for leukocytosis of 22x103/uL with 82.5% neutrophils. In this clinical setting, a postoperative infection was suspected and the patient was started on broad-spectrum antibiotic coverage with intravenous (IV) vancomycin and cefepime. A computed tomography (CT) scan of the head showed no acute intracranial pathology. A lumbar puncture was done and a cerebrospinal fluid (CSF) analysis was significant for an elevated white count of 3077 with 69% neutrophils, CSF glucose was low (12mg/dL), and protein was elevated (200mg/dL). The culture from the CSF grew MRSA and the patient was diagnosed with MRSA meningitis as a post-operative complication. On post-op Day 7, sutures from the surgical site were removed and about 100 ml of purulent fluid was drained. The culture from the wound was also MRSA positive. The wound was debrided again and the patient was continued on IV vancomycin for a total of six weeks. She responded appropriately to the antibiotic and did well with a resolution of her symptoms.
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pmc-6279002-1
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A 76-year-old Caucasian male with a history of SCCs, BCCs, and previously treated metastatic melanoma presented to the dermatology clinic in October 2017 with an erythematous lesion of two-month duration on the left lateral shoulder. He had a history of melanoma in situ of the abdomen excised in 2003, lentigo maligna melanoma of the scalp excised in 2005, and metastatic melanoma of the scalp in 2007, treated with interferon for a year. Physical examination of the left upper extremity revealed a psoriasiform patch 2.1 cm in diameter on the left lateral shoulder (Figure ). The lesion was located at a site previously treated for BCC via shave biopsy and destruction six months prior. Due to high suspicion for recurrence of a previously treated BCC, the new lesion was biopsied via shave method. Histologic examination revealed basaloid nests with tumor-stromal clefts and overlying squamoid differentiation of nests beneath an inflamed epidermis (Figure ), and diagnosis of metatypical basal cell carcinoma was established. MMS was recommended as the treatment of choice due to the tumor’s large size (2.8 x 2.1 cm), recurrence after prior destruction, and metatypical histology. The patient returned in December, 2017 for MMS, and a tumor-free plane was reached after two stages. However, intravascular involvement was noted on stage one of the Mohs sections (Figure ), and a second stage revealed negative surgical margins. There was no perineural involvement. The patient was then referred to an oncologist for further studies with positron emission tomography (PET) and computed tomography scans, which revealed no metastatic disease. Complete metabolic panel and complete blood count were also within normal limits. Follow-up visit two weeks post-op revealed a clean wound. The patient elected to follow up at the dermatology clinic only. To date, no systemic signs or symptoms were noted.
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pmc-6279004-1
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A 49-year-old male presented to our clinic with left medial thigh pain, quadriceps atrophy, and weakness. Non-surgical management consisted of a trial of oral narcotics, physical therapy, and epidural steroid injections. Magnetic resonance imaging revealed a left sided L3-4 far-lateral disc herniation with compression of the left L3 nerve root (Figure ).
The patient was brought to the operating room and positioned in a left lateral decubitus position (right side up). Intraoperative fluoroscopy was used to localize a 3.5 cm incision over the L3-L4 disc space. The skin was incised, then blunt dissection was used to divide the external oblique, internal oblique, and transversus abdominus. The retroperitinum was visualized and endoscopic kitners were used to sweep the fat off the surface of the psoas. Subtotal discectomy was performed with preparation of the endplates. A size 10 mm x 18 mm x 55 mm cage was filled with bone graft and a small bone morphogenic protein (Infuse, Medtronic). The wound was irrigated and closed in a standard fashion.
The patient noted immediate relief of his preoperative leg pain in the recovery room and ambulation began the same day. Narcotic pain relievers (oxycodone) were effective in treating his incisional pain and mild back pain. The patient was seen at two weeks postoperative and he had stopped all narcotic pain relievers. At six weeks, the patient continued to have significant improvement and was able to take hour-long walks. At five months, the patient did not have any pain and continued to have improvement in his left quadriceps strength. Six-month post-operative radiographs demonstrated stable interbody cage positioning without signs of subsidence (Figure ).
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pmc-6279005-1
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A 12-year-old boy was referred to our hospital from a peripheral hospital with a diagnosis of SUFE of the left hip. He initially presented to the peripheral hospital with left knee pain and limping two weeks prior. He went to the local hospital where the accident and emergency department personnel obtained knee X-rays showing no abnormality. He was given analgesia, advised bed rest, and was treated as having a soft tissue injury. The knee pain and limping did not resolve. The child presented to the local hospital again after four days with the same concern, and they obtained new knee X-rays. They also performed a clinical examination of the knee and found no abnormality. The analgesia was changed, and they advised further bed rest. The child’s symptoms persisted. He presented again with the knee pain, and the orthopaedic team was asked to review him. The orthopaedic team ordered bilateral knee X-rays and a pelvic X-ray along with a computed tomography scan of his pelvis. The scans confirmed the left hip slipped epiphysis (Figure ).
He was transferred to our hospital as we had the paediatric orthopaedics resources. The scans confirmed the Loder Classification of unstable and a severe Southwick Slip Angle Classification, with more than 50% slippage. He was admitted and taken to the operating theatre the next day. The intra-operative pictures confirmed almost 100% slippage of the metaphysis (Figures , ). He underwent the open epiphyseal reduction and fixation using the modified Dunne procedure (Figures , ). He was monitored via follow-up in the clinics after he was discharged. Approximately three months after the procedure, he developed signs of avascular necrosis (Figure ).
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pmc-6279008-1
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A 25-year-old male presented to the emergency department (ED) at our Level I Trauma Unit after receiving a GSW in the back. The patient was found to be peritonitic and tachycardic upon physical examination in the ED triage. A focused assessment with sonography for trauma exam showed fluid in the peritoneum. A resuscitative endovascular balloon occlusion of the aorta (REBOA) was deployed in the ED for active proximal control of the hemorrhage. He was transferred to the operating room (OR) for an exploratory laparotomy, where numerous intra-abdominal injuries were found, including a splenic hilum injury, renal artery injury, and proximal bowel injury. The patient was noted to have an HSK, making the hemorrhage from the kidney more difficult to control (Figure ). The renal capsule was opened and a 5 mm penetrating wound was found going through the left side of the HSK. Due to ongoing hemorrhage, the REBOA device was once again deployed. A large left renal vein was noted to be lacerated. This vein was ligated using 0-silk suture. The patient did well postoperatively and was discharged on postoperative Day 5.
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pmc-6279011-1
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A 34-year-old male presented with chief complaints of a two-month history of right-sided facial numbness, along with bilateral hand and foot numbness. He also reported xerostomia, as well as bilateral parotid gland swelling and dysphagia over the same period of time. The pain and numbness involved his feet and hands bilaterally and had been progressively worsening. Physical examination revealed normal muscle bulk and tone in all four extremities. However, distal weakness was observed with weak bilateral hand grip and he was unable to make a fist due to pain. He also had decreased sensation to light touch and pinprick in the right mandibular distribution of the trigeminal nerve. Decreased sensation to light touch, pinprick, and vibration was observed in bilateral hands (involving the second, third, and fourth digits), along with the medial and lateral forearms extending up to the elbows. The initial laboratory examination was significant for creatine kinase (CK) levels of 3,288 IU/L, erythrocyte sedimentation rate (ESR) of 60 mm/hr, C-reactive protein (CRP) of 21.2 mg/dl, and an aldolase of 17.1 IU/L. Hepatic function tests revealed an alanine aminotransferase of 233 U/L and an aspartate aminotransferase of 160 U/L. Immunological studies showed positive titers of anti-Sjögren's syndrome-related antigen A (SS-A) antibodies and anti-Sjögren's syndrome Type B (SS-B) antibodies > 8, while anti-Jo-1, anti-signal recognition particle (anti-SRP), and anti-melanoma differentiation-associated protein 5 (anti-MDA5) antibodies were negative.
Needle electromyography (EMG) was performed in both upper and both lower extremities. Various muscles tested included the deltoid, biceps brachiis, triceps brachii, pronator teres, and abductor pollicis brevis in both upper extremities. In the lower extremities, the vastus lateralis, tibialis anterior, and gastrocnemius muscle groups were tested. The compound motor action potential (CMAP) was also measured in both upper and lower extremities. The EMG studies showed subclinical irritable myopathy affecting the proximal muscles in the right upper extremity more than the right lower extremity. The patient also underwent nerve conduction studies, including testing of sensory nerve action potential (SNAP) amplitude in both upper extremities and lower extremities involving median, ulnar, and sural nerves. Bilateral median nerve sensory neuropathy was observed on nerve conduction studies. A computed tomography (CT) scan of the head and neck was performed which showed mild fatty infiltration of bilateral parotid glands, along with reactive lymph nodes scattered in the neck. Magnetic resonance imaging (MRI) of the pelvis demonstrated bilateral edema of the psoas and iliacus muscles as evident in Figure . An MRI of the brain showed the involvement of the parotid gland, suggestive of SS, as seen in Figures -. The creatinine kinase levels remained persistently high despite hydration peaking to a level of 7,215 IU/L.
Given the constellation of findings, including irritable myopathy on electromyography (EMG), positive SS-A/SS-B antibodies, and persistently elevated CK, as well with the MRI findings, a diagnosis of Sjögren's disease myositis was made. The patient was given 125 mg of intravenous methylprednisolone twice daily for three days with an improvement of his pain and numbness. The CK also trended down to 2,600 IU/L over the same period. He was subsequently switched to oral prednisone, 60 mg once daily by mouth, on discharge with a plan to taper by 20 mg every week.
The patient eventually underwent a salivary gland biopsy demonstrating focal lymphocytic sialadenitis consistent with SS. A follow-up muscle biopsy of the left deltoid showed mild changes, including occasional degenerating fibers and some denervation with no inflammatory changes. CK levels continued to remain elevated after discharge, and the patient was started on methotrexate and intravenous immunoglobulin (IVIG), in addition to oral prednisone, 20 mg. The IVIG dose was increased from 80 mg IV monthly to 150 mg IV monthly and mycophenolate mofetil, 1,500 mg twice daily, was added after his CK levels failed to normalize, despite the above treatment. The patient responded appropriately with the most recent CK level being 34 IU/L. He is currently asymptomatic and continues to follow-up with rheumatology 11 months after his initial presentation.
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pmc-6279672-1
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A 38-year-old unmarried female patient presented with pain, redness, and blurring of vision in the left eye for the last 5 days. She had a history of hypothyroidism, recurrent ulceration of breasts, hair loss, nausea, vomiting, and gastric pain. She was on treatment for hypothyroidism, anemia, and esophageal reflux disease. She denied history of any sexual exposure in the past. On examination, the best corrected visual acuity (BCVA) in the right eye was 6/6, N6 and in the left eye was hand movement (HM),< N36. Intraocular pressure (IOP) was 14 mmHg in the right eye and 16 mmHg in the left eye. Anterior segment examination of the right eye was normal and the left eye showed keratic precipitates, anterior chamber cells 2+ with flare (SUN—standardization of uveitis nomenclature grading) [] and iris pigments on the anterior lens capsule. Fundus examination of the right eye showed a hyperemic disc with posterior placoid retinochoroiditis and the left eye showed dense vitritis with hyperemic disc and punctate yellowish lesions suggestive of superficial retinal precipitates (Fig. ).
She was advised investigations but was lost to follow-up for 1 month and diagnosed elsewhere as viral retinitis. Investigations done showed decreased white blood cell (WBC) count—3980 mm3 and raised erythrocyte sedimentation rate (ESR)—35 mm/h. Mantoux test − 0 mm induration after 72 h. She was started on oral valacyclovir 1 g three times a day with topical prednisolone acetate 1% and oral corticosteroids 1 mg/kg weight which she was using for the last 2 weeks.
After being lost to follow-up for 1 month, she presented with blurring of vision in the right eye for last 1 week and ocular pain in both the eyes. The BCVA in the right eye was 6/36, N24p and in the left eye HM, < N36. Anterior segment examination showed anterior chamber cells 2+ with flare (SUN grading) in both the eyes, with keratic precipitates and iris pigments on anterior lens capsule in the left eye. Fundus examination of the right eye showed a hyperemic disc with ground glass retinochoroiditis and superficial retinal precipitates along the inferotemporal arcade and the left eye showed dense vitritis with hyperemic disc, intraretinal hemorrhage superonasal to the disc and superficial retinal precipitates (Fig. ). Fundus fluorescein angiography (FFA) of the right eye showed a hot disc with a hyperfluorescent edge of the posterior placoid retinochoroiditis lesion (Fig. ) and the left eye showed perivascular leakage suggestive of active vasculitis (Fig. ). Optical coherence tomography (OCT) of the right eye was within normal and the left eye showed epiretinal membrane (ERM) with superficial retinal precipitates and irregularity of the retinal pigment epithelium (RPE) (Fig. ). On further investigation, the venereal disease research laboratory (VDRL) test (1:128) and treponema pallidum hemagglutination (TPHA) test were both reactive. CD4 count was reduced—198 cells/microliter. Human immunodeficiency virus (HIV) I was positive and hepatitis A, B, and C were negative. She was referred to the acquired immunodeficiency syndrome (AIDS) cell and started on anti-retroviral therapy (HAART—highly active anti-retroviral therapy) and treated with injection benzathine penicillin 2.4 million international units (IU) intramuscular (IM) weekly for 3 weeks under close observation. Oral valacyclovir was stopped. Seeing to the general health of the patient and underlying HIV infection with intolerance to oral corticosteroids (esophageal reflux disease), the treating physician decided to stop oral corticosteroids. The patient was kept under close observation for the same. Cerebrospinal fluid (CSF) tap was positive for VDRL. Ceftriaxone 1 g intravenous twice daily for 2 weeks was added. Repeat CSF tap analysis after 3 weeks of treatment was negative for VDRL and CD4 count had improved to 319 cells/microliter, following which the anti-treponemal treatment was stopped and the anti-retroviral therapy was continued.
Follow up at 6 weeks, the BCVA in the right eye was 6/18, N6 and in the left eye finger counting (FC) at 1 m, < N36. Fundus examination of the right eye showed pigmentary alterations along the inferotemporal arcade and the left eye showed disc pallor, sclerosed vessels, pigmentary alterations, and ERM at the macula (Fig. ).
Follow up at 6 months, the BCVA in the right eye was 6/12, N6 and in the left eye FC at 3 m, N24. On examination, there was no evidence of recurrent active inflammation (Fig. ).
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pmc-6279675-1
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A 78-year-old female had bilateral exudative age-related macular degeneration (AMD) diagnosed in October 2015 and was under treatment with bilateral intravitreal anti-VEGF injections. In February 2018, the best corrected visual acuity (BCVA) of her right eye had decreased from 0.4 to 0.2, and the optical coherence tomography (OCT) revealed recurrence of macular exudation (Fig. ). The patient was treated with an IVI of aflibercept. At the 72 h post-IVI control visit, the patient was symptomless. The BCVA of her right eye had improved to 0.3 and no macular fluid was present. However, the LFP flare had increased from 8.6 ph/ms pre-injection to 664 ph/ms. Clinical examination revealed discreet conjunctival hyperemia, clear cornea, 3+ cells in the anterior chamber, and no hypopyon. On fundoscopy, the vitreous was slightly cloudy. Because of the tremendously high flare and first signs of endophthalmitis, the patient was immediately referred to the retinal department with suspicion of post-IVI endophthalmitis. After 2 h, before vitrectomy was performed, the BCVA was counting fingers, biomicroscopy showed a fine hypopyon in the anterior chamber, and the retina could not be visualized on fundoscopy. A diagnostic vitrectomy was performed followed by IVI of 0.1 ml vancomycin and 0.1 ml ceftazidime. At the same time, systemic moxifloxacin (400 mg/day) was started with daily parabulbar injections of betamethasone for 7 days. Microbiological analysis identified Staphylococcus epidermidis. The treatment response was satisfactory with gradual flare regression (Fig. ). At the last follow-up visit 4 months later, the patient had a BCVA of 0.3, a flare of 17.9 ph/ms, and OCT showed a dry macula (Fig. ).
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pmc-6279675-2
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A 72-year-old female with bilateral, moderate, non-proliferative diabetic retinopathy had a BCVA in the left eye of 0.7 in October 2015. The OCT revealed diabetic macular edema (Fig. ). She was treated with an IVI of aflibercept. At the 72-h post-injection control visit, the BCVA was 0.5 and the LFP flare had increased from 7.0 ph/ms pre-injection to 300.4 ph/ms. The patient was treated with a combination of 0.5% chloramphenicol and 0.1% dexamethasone drops every 10 min for 2 h. The LFP flare was assessed again and had further increased to 741.9 ph/ms. Clinical examination revealed conjunctival hyperemia, a clear cornea, 3+ cells in the anterior chamber without a hypopyon, and 3+ vitritis. The patient was then immediately referred to the retinal department with suspicion of post-IVI endophthalmitis. During her stay in the emergency room, a hypopyon formed. A diagnostic vitrectomy was performed with IVI of 0.1 ml vancomycin and 0.1 ml ceftazidime. At the same time, systemic moxifloxacin (400 mg/day) was started, as well as daily injections of parabulbar betamethasone during the subsequent 6 days. Microbiological analysis of the vitreous identified Staphylococcus epidermidis. The patient responded well to the treatment with gradual flare regression (Fig. ). At the final follow-up visit, she had a BCVA of 0.6, a flare of 9.1 ph/ms, and no significant macular edema (Fig. ).
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pmc-6279913-1
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A 26-year-old Chinese woman was admitted to Tongji Hospital in 2011 due to the chief complaint of muscle weakness of the upper and lower limbs, which had deteriorated for 6 months. The slowly progressive weakness was associated with slight myalgia. During admission, she was unable to run, climb stairs, or raise her arms over the shoulders. She had no fever, skin rashes, respiratory distress, or dysphagia.
Neurological examination revealed that her face and neck muscles were not obviously involved. The upper extremities were symmetrically weak (MRC 3/5 on the proximal portion and 4/5 on the distal parts), and the lower extremities were significantly weaker (MRC 2/5 on the proximal portion and 3/5 on the distal muscles). Slight symmetrical atrophy was evident on the proximal weakened muscles, but breathing was not obviously affected. There was no elicited myotonia or skin rash. Laboratory studies revealed increased serum levels of creatine kinase (CK; 12,422 U/L), lactic dehydrogenase (1,156 U/L), glutamic oxaloacetic transaminase (221 U/L), and glutamic-pyruvic transaminase (205 U/L). Tests of antinuclear antibodies, rheumatoid factor, anti-SSA antibodies, paraneoplastic biomarkers, a cohort of specific myositis-associated antibodies (e.g., anti-signal recognition particle antibodies), and DYSF gene analysis showed negative results. Electromyographic studies revealed myopathic changes in the proximal muscles. Magnetic resonance imaging revealed the presence of multiple patchy edema in muscles with hyperintense signals in both T2 and STIR imaging (Figure ). The biopsied muscle from the right quadriceps had widespread myofiber necrosis and regeneration without prominent inflammatory cell infiltration around and within the myofibers (Figure ). Immunohistochemical staining of the frozen muscle sections for sarcoglycan, dysferlin, and caveolin 3 revealed no deficiency. The library of cluster of differentiation antibodies, such as those against CD4, CD8, and CD68, detected a low number of infiltrates. Major histocompatibility complex (MHC) I was upregulated in some myofibers, but there was no prominent C5b9-positive immunostaining in the myofibers.
Based on clinical grounds, a probable diagnosis of NAM was considered. Initially, the patient was treated with oral prednisone at 40 mg/day. Two months later, the muscle weakness of the limbs did not improve significantly; instead, the clinical status continued to deteriorate with progressive weakness. In 2013, she was hospitalized again. A second muscle biopsy of the left bicep was performed, which revealed changes similar to those in the first biopsy. Intravenous immunoglobulin (IVIGs) at 0.4 g/day for 5 consecutive days was administered. At the same time, oral prednisone at 40 mg/day in combination with oral tacrolimus at 3 mg/day was introduced. Slowly, the muscle strength increased. Six months later, her condition was significantly improved. She was able to raise her arms over her head and stand from squatting position. With the improvement of muscle strength of the limbs, oral prednisone was tapered. One year later, the woman returned to normal life and was able to do office work without any complaints. From then on, she was on oral prednisone at 5 mg/day and oral tacrolimus at 3 mg/day. Her CK level decreased to 385 U/L. She got married and decided to discontinue the therapy to prepare for conception. Although she became pregnant, she experienced severe rebound of muscle weakness including breathlessness during her 6th month of gestation. When the patient came to the Neurology Clinic at Tongji Hospital in 2015, the extremities were very weak (MRC 2/5) and she had difficulty in raising her neck (MRC 2/5). Furthermore, she experienced dyspnea when she moved her extremities. Her CK and myoglobin levels increased to 8,000 U/L and 1,200 ng/L, respectively. Based on the results of fetal monitoring, the patient was hospitalized again and treated with oral methylprednisolone at 30 mg/day, tacrolimus at 1 mg/day, and IVIG therapy at a dose of 0.4 g/kg/day for 5 consecutive days. Mask oxygenation was applied, and vital signs were monitored. The heart rate of the fetus was in the normal range. Again, the patient's muscle weakness slowly improved, and her CK and myoglobulin levels began to decrease gradually. When the patient was due for delivery, she was able to walk slowly without assistance, and had no discomfort or complications resulting from the approximately 2-month pre-delivery treatment with methylprednisolone at 30 mg/day and tacrolimus at 1 mg/day. In April 2016, the patient gave birth through cesarean section to a healthy baby girl with an Apgar score of 10 at 10 min. The infant had a height of 48 cm and a weight of 2,230 g at birth. The tacrolimus and methylprednisolone dose was increased to 3 and 48 mg/day, respectively. The methylprednisolone dose was tapered according to muscle strength and CK and myoglobulin levels. The tacrolimus dose remained unchanged under surveillance of routine blood test and hepatic and renal functions. One year later, she obtained satisfactory clinical recovery. She is currently working in an office again. The serum CK and myoglobin levels were normal on oral tacrolimus 3 mg/day. Methylprednisolone was discontinued. Magnetic resonance imaging of the muscles showed improvement of the edematous change. The baby is currently 2 years old with normal developmental milestones and normal level of creatine kinase.
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pmc-6279985-1
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A 45 years old female presented to neurology outpatient department with complains of headache and dizziness for 1 month. Her neurologic examination was normal. The electro encephalogram (EEG) showed deceleration in the right hemisphere, but no other abnormalities. The brain magnetic resonance imaging (MRI) showed a 10 × 7 × 4 cm ovoid mass in the right parieto-occipital region with peritumoral edema. The mass was attached to tentorium and was seen extending into the right transverse sinus. The tumor showed intermediate-low signal intensity in the T1-weighted image (T1WI) and slightly increased signal intensity in T2-weighted image (T2WI). The upper and medial portions of the mass showed heterogeneous and relatively low signal intensity in T2WI and suggested a fibrotic mass. The mass showed strong enhancement in the gadolinium-enhanced T1 image. However, we felt that there was also the possibility that the lesion was dura based and simply compressing the ventricle. Given the imaging characteristics, a provisional diagnosis of a meningioma was made (A and B). Gross total resection was done. The tumor was a well-encapsulated, greyish white solid, round and firm mass. The pathologic examination revealed a spindle cell tumor with a “patternless-pattern”. The tumor showed variable cellular morphology comprising of mixed hypercellular and hypocellular areas, with multifocal intervening collagen lay down and scattered vessels. Hypercellular areas showed interlacing fascicles of spindle-shaped cells with moderate amount of eosinophilic cytoplasm and oval to elongated nuclei exhibiting variable pleomorphism. Hypocellular areas showed spindle cells with bland nuclear chromatin and abundance of collagen. The tumor cells showed diffuse, strong immunoreactivity for STAT 6, CD 99, CD34, BCL-2 and Vimentin. The mitosis was less than 1/10 high power field (HPF), with an about 1% Ki-67 labelling index, and there was no evidence of necrosis. Sparse reticulin fibers were observed amongst the tumor cells on special stain. With these results, hemangiopericytoma was ruled out, and a diagnosis of SFT was made (A–D). The post-operative neurological status was substantially improved and regular follow-up examinations for 6 months post-surgery have shown that the patient is currently disease-free. The patient was scheduled for follow-up MRI after three months.
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pmc-6279989-1
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54-year old female with a history of hypertension and gallbladder polyp was admitted to our department for the evaluation of a gastric lesion that was detected incidentally during ultrasonography scan of the upper abdomen (A). Esophagogastroduodenoscopy (EGD) and endoscopic ultrasound (EUS) (B) confirmed the presence of a 2.5 × 1.5 cm hypoechoic and submucosal lesion situated along the lesser curvature of the stomach. Tumor markers of Alpha-fetoprotein, (AFP), Cancer Antigen 125 (CA-125), Cancer Antigen-19.9 (CA19.9), and Carcinoembryonic Antigen (CEA) were all within limits. A contrast-enhanced computed tomography (CT) scan revealed a homogeneous exophytic mass at the lesser curvature of the middle body of the stomach. No intra-hepatic lesions were seen, and the other abdominal organs were unremarkable. Endoscopic biopsy revealed submucosal mass contiguous with the muscularis propria. Chronic inflammation with fibro-sis were also detected. Surgical approach was decided, and the patient underwent an open cholecystectomy and local resection of the gastric mass in healthy borders. Macroscopic examination of the resected mass revealed a well-circumscribed nodular tumor measured 2.8 × 1.5 × 1.8 cm. Histopathology findings of frozen section was characterized by interlacing bundles of spindle cells of varying cellularity and peripheral lymphoid cuffs (). Neoplastic cells were strongly positive for S-100 protein (A), but they were negative for CD-34, CD-117 (B), smooth-muscle actin and desmin. The resected margin was reported clear (R0). Postoperative period was uneventful, and one-month follow-up was unremarkable.
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pmc-6279989-2
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77-years old female with a history of cholelithiasis presented with epigastric pain persisting for the last six months. CT scanning revealed a homogeneous round mass measuring 5 cm, arising from the posterior wall of the stomach (A). Submucosal tumor with the possibility of GIST was suspected, and surgical intervention was recommended. Upper gastrointestinal endoscopic examination revealed a protruding submucosal mass between antrum and body of the stomach along greater curvature (B). The overlying mucosa was normal. Endoscopic biopsy revealed chronic inflammation without suspicious cells for malignancy. During abdominal exploration with midline excision, a 5 cm sized exophytic mass was identified in the posterior wall of the greater curvature be-tween body and antrum. There was no infiltration of the mass into the surrounding tissues, nor any distal metastasis in other organs. A tumor was excised, and combined cholecystectomy was per-formed due to cholelithiasis. Histopathology findings revealed a 5 cm well-circumscribed but not capsulated mass arising from muscular propria with intact overlying mucosa. A picture of spindle cells with areas of hypo and hypercellularity (Antoni A and Antoni B areas) with a peripheral cuff of peritumoral lymphoid aggregates were identified. Tumor cells showed strong immunoreactivity for S-100 protein (C) but were negative for CD-117 and CD-34 (D).
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pmc-6279994-1
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A 59 years old male patient with HCC complicating liver cirrhosis due to chronic HCV infection, was planned for LDLT. He had a history of three sets of trans-arterial chemo-embolization. Preoperative triphasic abdominal computed tomography (CT) showed enlarged cirrhotic liver with large left hemi-liver HCC 4.8 * 5.8 cm with partial lipidol uptake with residual viable tumor tissue, and other smaller HCCs in both hemi-livers with no lipidol uptake, and mild enlarged spleen (). His preoperative Child-Pugh score was 6 (class A), model for end stage liver disease (MELD) was 9, and alpha feto-protein was 14.1 ng/ml.
He received a right hemi-liver graft without the middle hepatic vein from his son (22 years old). The actual graft weight was 1208 g and graft weight to recipient weight ratio (GRWR) was 1.5.
The surgical technique had been described previously []. The graft had double hepatic venous anastomoses. Right hepatic vein (30 mm) and was anastomosed to the recipient right hepatic vein with venoplasty (30 mm). Segment VIII vein (10 mm) was anastomosed to middle hepatic vein stoma using a synthetic vascular graft (polytetrafluoroethylene). The recipient main portal vein stump (20 mm) was anastomosed, in end to end fashion, to the graft portal vein (13 mm). Then arterial reconstruction was done between the graft right hepatic artery (3 mm) and the recipient left hepatic artery (3 mm). Doppler ultrasound (US) was performed upon completion of all vascular anastomoses and showed sound anastomoses and adequate inflow and outflow of the graft without congestion.
Double biliary anastomoses were performed duct-to-duct technique over 2 trans-anastomotic biliary catheters (4 french) exiting through a separate opening into the common bile duct. The graft right posterior sectorial duct (3 mm) was anastomosed to the recipient common hepatic duct (4 mm), and the graft right anterior sectorial duct (3 mm) was anastomosed to the recipient cystic duct (3 mm). Completion cholangiogram showed adequate biliary anastomoses with no leakage.
Postoperative pathological examination of the explanted liver showed cirrhotic liver with well differentiated HCC (left hemi-liver lesion: 6 cm & right hemi-liver lesion: 1 cm) with occasional vascular tumor emboli.
The patient developed early hepatic artery thrombosis on the first postoperative day that was managed by angio-intervention. Afterwards, the patient had smooth postoperative course and was discharged 3 weeks after the operation. The patient received our regular immunosuppression protocol and maintained on Cyclosporine []. He was planned to regular follow up in outpatient visits including detailed laboratory and radiological evaluation.
The patient started oral direct acting antiviral drugs for recurrent HCV 2 years after LDLT. The patient received Ombitasvir (12.5 mg), paritaprevir (75 mg), and ritonavir (50 mg) plus Ribavirin in August 2015 for 3 months, but relapse occurred after 6 months. Then he received Sofosbuvir (400 mg) plus Daclatasvir (60 mg) plus Ribavirin in October 2016 for 6 months, but also relapse occurred again. Finally, he received Sofosbuvir (400 mg) plus Simeprevir (150 mg) plus Ribavirin in April 2017 for 6 months but relapse occurred after 1 month of completion of the therapy.
On follow up abdominal US, a left adrenal mass was detected. Triphasic CT abdomen showed normal right hemi-liver graft and its vasculature and left adrenal mass 9 cm in size suggesting metastatic HCC (). Further metastatic workup was performed including CT chest, and bone scan and no other metastatic lesions were detected. Serum alpha feto-protein was 85.4 ng/ml, and 24-hour urinary valinyl mandelic acid was normal (3 mg/24 h). The decision was to proceed for surgical resection.
Left adrenalectomy was done by an anterior approach. Anterior approach was preferred to allow for adequate evaluation of the abdominal cavity and better manipulation of large tumor. The spleen, pancreas and the left colon were moved aside to expose the mass. The adrenal vessels were identified and divided, and the mass was removed. The patient had smooth postoperative course and was discharged 7 days after the operation.
Postoperative pathology showed a single well circumscribed firm mass 13 × 9 cm in size. It was greyish white in color with areas of hemorrhage and necrosis. Microscopically, the tumor is formed of sheets of atypical polygonal cells with evident sinusoidal pattern. The tumor cells exhibit moderate degree of anaplasia (). Immunohistochemical study showed focal positivity for Hep Par-1 and Glypican-3, while negative for chromogranin, synaptophysin and s-100. Metastatic HCC was confirmed ().
The patient is under regular follow up visits in the outpatient clinic and no evidence of new tumor recurrences for 6 months after excision ().
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pmc-6279998-1
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A 62-year-old Korean woman presented to the Emergency Department after a road traffic accident. On clinical and radiological evaluation, patient was hemodynamically stable and had both column right acetabular fractures, with fracture of right quadrilateral plate, superior and inferior pubic rami (). The patient had no known comorbidities, significant family or drug history. The patient was posted for an elective surgery.
The modified Stoppa approach with lateral window was used. The articular free fragment and anterior column reduction was done via the modified Stoppa approach. Sciatic buttress fragment and posterior column reduction was carried out using a collinear clamp and a pusher through the lateral window. Anterior column plating followed by sub-pectineal plating for fixation of the quadrilateral plate was done. In addition, two cancellous screws were passed through the iliac wing for fixation of the posterior column. The entire surgery was performed under General Anesthesia and the surgery was uneventful. Post-operative radiograph of the pelvis showed near anatomical restoration of the fracture fragments ().
Patient had regular subsequent follow-ups. One month after the surgery, the patient complained of pain in the right hip joint. The radiograph of the pelvis was repeated, which did not highlight any difference in comparison to post-operative radiogram (). The patient was managed conservatively on analgesics. At 2 months follow-up, the patient continued with the symptoms of severe excruciating right hip pain. Further imaging studies were requested. The radiograph of the pelvis showed signs of severe progressive destruction of the right femoral head with joint space narrowing and subchondral bone loss in the femoral head (). C.T. pelvis revealed that the right femoral head had geographical sclerosis of the anteroposterior weight-bearing portion. In addition, the femoral head had an anterolateral surface depressed fracture and anterosuperior subchondral insufficiency fracture (). Magnetic Resonance Imaging (M.R.I.) of the right hip revealed an articular surface depression with bone marrow edema extending to the intertrochanteric region of the proximal femur (). It also displayed synovitis with large amount of effusion and synovial hypertrophy. The patient underwent Total Hip Arthroplasty. The head specimen was sent for histopathological analysis and the reports confirmed the diagnosis of rapidly destructive osteoarthritis of the hip.
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pmc-6280005-1
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A 48-year-old woman presented at the surgical clinic with a mass in the left breast. The patient remarked that the mass had been present for two years. The patient had no history of nipple discharge or hormone treatment. There was no family history of breast cancer. There were no palpable left axillary lymph nodes, and laboratory tests revealed no significant findings.
On mammograms the lesion was dense with radiolucent areas inside which were thought to be compatible with fat (). On sonographic imaging the lesion had smooth contours and was hypoechogenic with large hyperechoic components in between (). The mass was assumed to be breast imaging-reporting and data system (BIRADS) 3 on sonography as it was well contoured. A sonography guided tru cut biopsy was performed with a 16 Gauge needle.
The sampling consisted of a fragmented tissue containing a few epithelial tubular formations in fibrous stroma with myxomatous degeneration. There were no atypical epithelial or stromal cells. A description of the lesion was made and was reported to be consistent with a fibroadenomatous lesion.
The lesion was completely excised.
The surgical specimen measured 60 × 50 × 40 mm, with an overlying skin measured 50 × 20 mms. Cut surface of the material revealed, a yellow colored, elastic, firm mass with relatively well-defined lobulated contours, measuring 27 × 25 × 15 mms. A free surgical margin of at least 3 mms was measured ().
On microscopic examination, the lesion is composed of two to three cell layers thick, benign mammary duct epithelium lining the slit-like spaces, and a cellular spindle cell stroma (a). The cellular mesenchymal stromal elements protrude into cyst-like spaces in a leaf-like configuration (b). Sarcomatous appearing stromal cells were bizarre spindle cells with large, crowded, pleomorphic nuclei. There was a slight mitotic activity (2 mitoses/10 HPF). No necrosis, hemorrhage or lymphovascular invasion were found. Stroma, described above, constituted a narrow zone, and continued with adipose tissue. Adipose tissue contained a significant number of bizarre cells; with a large cytoplasm and a lobulated nucleus. These cells were evaluated as “pleomorphic lipoblasts” (a–b), and the adipose tissue was diagnosed as pleomorphic liposarcoma component. Immunohistochemistry revealed that liposarcomatous elements were positive for S-100, and vimentin. The stromal cells were positive for vimentin, but negative for s 100, desmin and actin. The case was diagnosed as “Borderline Philloides Tumor with a Pleomorphic Liposarcoma Component”
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pmc-6280009-1
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The patient was a 55-year-old African American male with a significant past medical history of known breast cancer, who presented to an academic teaching hospital in February of 2018 after a surveillance computed tomography (CT) scan of his chest, abdomen, and pelvis showed incidental acute appendicitis. The patient was asymptomatic on his original presentation but subsequently developed nausea and vomiting along with right lower quadrant abdominal pain in the following days resulting in admission to the general surgery service for treatment of appendicitis. The patient did not have any contributory family, drug, or psychosocial history.
On chart review, the patient had an extensive past oncological history dating back to 2014 after resection of an enlarging, exophytic, ulcerating chest mass on the right side just lateral to the midline. Pathology from the wide local excision of this mass demonstrated estrogen receptor (ER) positive, progesterone receptor (PR) positive, and HER2/neu negative metastatic adenocarcinoma with an unknown primary source at the time. He underwent esophagogastroduodenoscopy (EGD) and colonoscopy to rule out a primary gastrointestinal malignancy, however, both were normal. He was followed closely by medical oncology and treated with tamoxifen for hormone therapy. Due to an enlarged anterior mediastinal wall lymph node discovered on routine CT surveillance in May of 2017, the patient underwent CT-guided biopsy and positron emission tomography (PET). The biopsy was negative for malignancy, however, the PET demonstrated abnormal, hypermetabolic activity within a retrosternal nodule, intense activity in a mixed focus in the manubrium, and several hypermetabolic nodes within the mediastinum. It also showed an abnormal hypermetabolic focus in the cecum suspicious for a colon primary (, ). An attempt was made to complete a colonoscopy at the time, but the gastroenterologist could not advance the colonoscope past the transverse colon due to technical reasons. Medical oncology elected to continue close surveillance.
In January 2018, the patient was noted to have right axillary lymphadenopathy and an ultrasound-guided biopsy of a 1.5 cm right axillary lymph node was performed. Pathology results showed an infiltrating, moderately-differentiated ductal carcinoma. This specimen was also ER and PR positive as well as HER2/neu negative.
A CT scan of the patient’s chest, abdomen, and pelvis was completed on February 15, 2018 for further monitoring. At this time, the patient was incidentally found to have a dilated appendix with no wall thickening or periappendiceal stranding. He did not have a leukocytosis and clinically he did not have any fever or any symptoms including pain, nausea, or vomiting at this original presentation. However, he returned two days later with nausea, vomiting, and right lower quadrant pain consistent with appendicitis. On a repeat CT of the abdomen and pelvis with IV and oral contrast, the appendix was dilated to 1.8 cm with appendiceal wall thickening and periappendiceal stranding. In addition, a 2.3 × 1.9 × 2.3 cm bowel mass was identified in the right lower quadrant either adjacent to or within the wall of the cecum that correlated with the previous PET-CT scan performed in May 2017 (). He was therefore admitted and treated with IV antibiotics for acute appendicitis with plans for appendectomy during his hospitalization along with further workup of the cecal mass.
Because of his oncological history, a colonoscopy was performed on hospital day one to evaluate the cecum to rule out metachronous colon tumors given his CT imaging findings and previous PET-CT. The colonoscope was advanced to the cecum without issue. Cecal inflammation was noted and several biopsies were taken of this area, however, no discernable tumors were noted. Pathology returned with no significant pathologic changes to the biopsied tissue.
The following day after receiving intravenous antibiotics and fluid resuscitation, the patient underwent laparoscopic appendectomy. The procedure was converted to open due to the extensive inflammatory process in the right lower quadrant and retrocecal position of the appendix. The appendix was divided from the cecum using a GIA stapler and the appendiceal vessels were suture ligated and divided with electrocautery. The specimen was removed from the field and sent to pathology for evaluation. Prior to abdominal closure, the colon was run from the terminal ileum to the rectum and a large walnut-sized mass was discovered in the cecum proximal to the area of the appendiceal orifice. It was hard, mobile, and suspicious for a primary colon lesion. A right hemicolectomy was then performed including adequate mesenteric lymph node resection. The operation was performed by a general surgeon and a chief resident. The patient tolerated the procedure without complications and was returned to the surgical floor postoperatively. His post-operative course was unremarkable, and he was discharged five days after the procedure.
Pathology from the surgical specimen returned shortly after the surgery. The appendix showed findings suggestive of acute appendicitis with organizing periappendicitis. The right colon specimen returned as metastatic breast carcinoma involving cecal submucosa clear of margins with overlying benign colonic mucosa (). Twenty lymph nodes were harvested and were all negative for disease. The specimen stained strongly and diffusely for GATA3 which was consistent with metastatic breast carcinoma and negative for CDX2 (A–D).
After discharge, the patient had close surveillance with medical oncology. He was transitioned to anastrazole secondary to the ER/PR + receptor status of his tumor and its refractory response to tamoxifen. Prior to his first outpatient appointment in April 2018, he complained of worsening skeletal pain at multiple sites. Bone scan showed left posterior rib and sternal involvement for which zoledronic acid was initiated. He also underwent CT scan of his chest, abdomen, and pelvis to monitor progression of his metastatic disease which showed no significant changes. During his appointment in June 2018, he was noted to have an enlarging left lateral neck mass. Ultrasound-guided biopsy of this mass returned positive for metastatic carcinoma consistent with breast origin. No significant changes to his treatment regimen have occurred since this time.
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pmc-6280022-1
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A 45- year old unmarried heterosexual, otherwise healthy and non-smoking female with no previous history of cancer, diabetes or lichen sclerosus was referred to the Department of Breast and Plastic Surgery for reexcision of a histopathologically verified 20 mm x 10 mm perianal verrucous carcinoma. The resection base margin was not free, so the patient was referred to Dep. of Plastic Surgery for further surgical intervention and follow-up. Histopathologically, there was some discussion whether the tumor excised prior to admission should be described as a verrucous carcinoma or a Buschke Loewenstein tumour. However, since no Human Papilloma Virus (HPV) could be found in the tissue by immunohistochemical staining, the final conclusion was verrucous carcinoma of the anogenital area ().
The tumour had been present and growing for 3 months. As local treatment by Podophyllotoxin failed to treat the lesion, the patient was referred to a general surgeon in a private clinic, who had excised the tumor. Resection borders were not reported.
No bleeding, itching, painful sensations or previous history of lichen sclerosus were reported. The patient had no risk factors for HIV or symptoms from the gastrointestinal tract. The only medicine prescribed was peroral Imigrane for intermittent migraine. No lymphadenopathy was found.
The clinical presentation was a scar (a) of 20 × 18 mm located in close proximity to the anus remained from the primary excision (). A stalked, soft mobile tumor of 5 × 4 mm (b) was also observed in the perianal region at 4 o’clock (). Histopathologic evaluation of a 4 mm punch biopsy from lesion b determined that is was a benign fibroepithelial tumor. The patient was referred to the department of surgical gastroenterology, Herlev, Denmark, for endoscopy and further surgical intervention on the suspicion of involvement of the anal canal. PET-CT scan determined no signs of dissemination. A transrectal ultrasound examination revealed a tumour observed at 4 o’clock. This tumour involved the internal muscular sphincter of the anus and it was excised in toto. Histologic diagnosis was lichenoid inflammation.
Follow-up was set for 6 months in which the patient did not display any signs of relapse ().
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pmc-6280225-1
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A 66-year-old male presented with recurrent perianal abscesses over a 12-month period. There was a history of perianal trauma from sitting on broken glass in childhood. Past medical history included vascular dementia, hypertension, hyperlipidemia, atrial fibrillation, and gout. He had no known history of perianal warts, sexually transmitted disease, immune deficiency, inflammatory dermatoses, or arsenic exposure. The patient was a former smoker and had no known family history of malignancy. His primary care physician referred him for ultrasound fine needle aspiration of the abscess, which yielded 15 cc of purulent material (). Gram stain and culture were negative for organisms or bacterial growth. Cytology showed atypical squamous cells. Postdrainage differential diagnosis included squamous cell carcinoma, cyst, condyloma, or large abscess.
Because of the presence of atypical squamous cells on cytologic analysis, he was referred to a colorectal surgeon; for unclear reasons, the appointment was delayed for 2 months during which time the mass increased in size, prompting concern for a fistula. Rectal examination again revealed a fluctuant mass in the left lateral quadrant. No fistulas were noted on external exam. The abscess was drained surgically yielding purulent fluid with improvement in the patient's pain. The culture did not have any microbial growth. A follow-up exam under anesthesia less than one month later revealed an external sinus tract into the mass but no clear fistula to the anal canal. It was decided to excise the mass completely and close the defect primarily ().
Grossly, the specimen consisted of polypoid skin which contained a well-circumscribed tan-grey nodule measuring 3.0 cm in greatest dimension with a central, folded cystic lumen. Microscopically, a nodular well-circumscribed tumor was present in the dermis () and displayed peripheral palisading cells, desmoplastic changes, and retraction artifact. Tumor cells were small, mostly uniform in shape, and hyperchromatic (). The tumor produced mucin which was seen as aggregates within the nodules (). Foci of dark-brown acellular pigment consisting of coarse clumped granules were found in the lesion (Figures and ), and some tumor nodules displayed a dense fibrous stroma containing pigment clumps and cholesterol clefts.
Immunohistochemical studies demonstrated tumor cell positivity for cytokeratin 7 (CK7), high molecular weight keratin (CK903), and Ber-EP4. Patchy or focal positivity was observed with cytokeratin CAM 5.2 and epithelial membrane antigen (EMA). Focal melan-A-positive cells were thought to represent benign melanocytes that colonized the tumor. The tumor was negative for melanoma antigen (HMB45) and microphthalmia transcription factor (MITF). The surgical margins were more than 1 mm away from the nearest tumor border.
At one-month follow-up, the wound had completely healed. No further adjuvant therapy was performed except periodic surveillance to evaluate for recurrence, as well as dermatologic surveillance to assess for basal cell carcinomas elsewhere. At two-year follow-up evaluation, there had been no recurrence or complications ().
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pmc-6280227-1
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A 14-year-old adolescent boy was referred to our Endocrinology Department for evaluation of short stature. As no medical records were available, previous growth velocity could not be evaluated. The patient reported that he had always been short for his age throughout his childhood.
His recent medical history was negative for headaches, vomiting, or vision changes. There were no reports of fatigue, cold intolerance, constipation, and skin or hair changes. Appetite was normal with no recent weight loss. There were no academic concerns. He regularly played football, with no history of traumatic or nontraumatic fractures. He took no medications. For several months, he had reported minor bilateral symmetrical crookedness on his second fingers, without any pain or local symptoms.
He had been born at 36 gestational weeks, weighing 2450 g with no history of abnormal gestation, breech presentation, ischemic insult at birth, or other neonatal events.
Parental heights were normal, with a target height of 177.5 cm. Parental pubertal timing was also within normal limits. Family history was negative for short stature, endocrine, or autoimmune conditions.
Clinical examination revealed a dysmorphic, proportionate, and relatively short adolescent with normal vital signs. His anthropometric parameters were −2 SDs (standard deviations) for weight (37 kg) and between −2 SDs and −2.5 SDs for height (148 cm) (Belgian charts). His height was below his midparental genetic interval. His upper:lower segment ratio and arm span were normal. His hands and feet appeared short, with middle, painless tumefaction of soft tissue around the index proximal interphalangeal joints. No spinal abnormalities were noted, but a mild pectus excavatum was present. There was no thyromegaly. Testicular and pubic hair development was in Tanner stage II (testicular volume 6 ml). The most prominent dysmorphic features were a pear-shaped nose, a thin upper lip with small lower jaw, prominent ears, and markedly thin and sparse blonde hair with rarefaction of the lateral eyebrows (). The teeth examination was difficult because he wore dental braces to correct dental irregularities.
An extensive biological workup was performed. Complete blood count and serum levels of inflammatory markers, electrolytes, glucose, renal function, liver enzyme, and tissue transglutaminase antibody levels were normal. The laboratory findings showed normal thyroid and adrenal function and normal growth hormone secretion (normal levels of insulin-like growth factor and insulin-like growth factor binding protein). Additional pituitary and gonad testing revealed a normal prolactin level and pubertal testosterone, luteinizing hormone (LH), and follicle-stimulating hormone (FSH) levels (). The bone age was evaluated at 12 years 6 months.
A renal and cardiac ultrasound looking for other possible somatic malformations [] wasperformed and showed normal morphological kidneys, ureters, and urinary bladder and no cardiac abnormalities.
After this first clinical, biological, and radiological evaluation, the working diagnosis was constitutional growth delay with late normal puberty, but skeletal dysplasia (dysmorphic features in the context of short stature) was considered for differential diagnosis.
During the follow-up 6 months later, the initial apparent soft tissue tumefaction of his indexes had progressed to localized noninflammatory and painless deformity, causing limited difficulty in writing and typing on a keyboard. This sign was isolated, and the patient did not complain of pain or history of local trauma or infection. At this time, his clinical appearance was normal, except for the aforementioned dysmorphic traits. His growth velocity (5 cm/6 months) was normal in the context of spontaneous pubertal progress (Tanner stage III, testicular volume 8–10 ml).
Clinical examination of his hands revealed isolated ulnar deviation of the second fingers and symmetrical deformity of proximal interphalangeal joints of both hands (). He had no other painful or deformed joints.
His feet look normal, but the toes are short ().
Theoretically, a differential diagnosis with inflammatory arthritis was considered, but the clinical findings (dysmorphic features, short stature, and relatively asymptomatic finger abnormalities) were more suggestive of a skeletal dysplasia. Radiographs of hands, feet, and pelvis were performed and allowed the definitive diagnosis.
The plain radiograph of his wrists showed cone-shaped epiphyses of the middle phalanges of the second digit of both hands with moderate deviation of the phalangeal axis (Figures and ).
Similar cone-shaped epiphyses were found in the proximal phalanx of the great toe and up to the fourth one of both feet with shortness of all toes ().
No other radiological joint impairments (juxtaarticular osteopenia or erosions) were found. Radiographs of the pelvis and whole-body magnetic resonance imaging (looking for fine abnormalities, particularly long bone cysts not visible on plain radiographs) [] were normal. The bone age was retarded at 12 years 6 months (the chronological age was 14 years 6 months).
Taking together the clinical and particularly the radiological findings, the correct diagnosis of trichorhinophalangeal syndrome (TRPS) was achieved. This was a delayed diagnosis, and our explanations for this include the underrecognition of the dysmorphic features (in our first examination), the underinterpretation of fingers tumefaction in the clinical context, and consecutively no hand radiological exam being conducted.
Other entities associating ectodermal and skeletal phenotypes were reviewed, particularly Albright osteodystrophy, acrodysostosis, and other brachydactyly syndromes, but several features of the presentation were inconsistent with these diagnoses.
Cytogenetic analysis was not performed. The family history appeared to be negative, his parents and his sister do not manifest the syndrome phenotype, and in such conditions, a sporadic case of TRPS type I was considered highly possible.
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pmc-6280234-1
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A 78-year-old female with past medical history of chronic diastolic heart failure, pulmonary hypertension, paroxysmal atrial fibrillation on Eliquis (apixaban), left bundle branch block, coronary artery disease s/p DES to circumflex in 2010, myocardial infarction, hypertension, and hyperlipidemia presented with worsening shortness of breath. She underwent transesophageal echocardiogram which revealed a left ventricular ejection fraction of 55-60%. There was severe aortic stenosis and mild aortic regurgitation. The aortic valve area by continuity equation was 0.8 cm2. She was scheduled for cardiac catheterization which showed aortic pressure (Ao) 211/86, left ventricle (LV) 216/14, right atrium (RA) 8, pulmonary artery (PA) 43/20, and pulmonary wedge (PW) 21. Fick cardiac output was 4.22 and Fick cardiac index was 2.19. The aortic valve area was 0.85 cm2 with a mean gradient of 26 mmHg. The Langston measurements revealed a 22 mm peak to peak gradient with a mean gradient of 26 mm. The patient was hypertensive and had a moderately reduced cardiac output. Her aortic valve area index measured was 0.47. Coronary angiography revealed a right dominant system. There was 55% stenosis of the proximal LAD; however, instant flow reserve (IFR) was 0.90 and Fractional flow reserve (FFR) was 0.90 which did not show any need for PCI. 3-Mensio readings were used to estimate the calcium burden. Readings from both Medtronic and Edwards indicated significant valve calcification.
No provocative stress testing was done. CT of chest, abdomen, and pelvis as part of TAVR protocol did not show any evidence of hematoma or dissection. Patient blood workup showed normal renal and hepatic function levels (HgbA1C 5.6, Cr 0.89, Na 143, K 4.7, Albumin 3.8, ALK 90, AST 19, and ALT 28). CBC showed WBC 6.4, RBC 13.1, HCT 39.8, and Platelets 251. Coagulation profile was normal with PT 11.0, INR 1.1, and PTT 28.0.
Patient was scheduled for transfemoral TAVR. Patient's apixaban was discontinued prior to the procedure as per protocol. Patient's last dose of apixaban was 3 days prior to her procedure. Patient's blood pressure on presentation was 112/61, pulse rate 66, respiratory rate 14, and temperature of 97.5. Early during the TAVR procedure, the anesthesia record indicated a spike in BP to >200 mm. She had readings of SBP > 200 prior to her procedure. Patient BP was controlled with 10 mg IV of Hydralazine. Procedure was continued. Two Perclose devices were deployed in the left femoral artery, the vessel was dilated, and aortic valve replacement was performed. Valve was deployed under rapid ventricular pacing. Postdeployment assessment with hemodynamics and transesophageal echo aortography showed no aortic insufficiency. Patient received heparin during the procedure as per protocol. The patient received 14,000 units of heparin at the outset of the procedure. Protamine 140 mg was administered at the end of the procedure. The ACT peaked at 290. It began at 111 and was 119 at the end of the procedure. Patient was extubated and transferred to CVU.
Shortly after arriving in CVU patient complained of abdominal pain. She had abdominal discomfort on palpation. Patient subsequently became hypotensive. Her blood pressure dropped to 76/44 mm of Hg. Her MAP was 58mm of Hg. Patient's respiratory rate increased to 22 breaths per minutes. Echocardiogram showed hyperdynamic wall motion and volume depletion. Albumin was administered. She required increasing doses of neosynephrine. Patient's baseline hemoglobin was 13.1 g/dl with hematocrit of 39.8% which decreased to 8.1 g/dl with hematocrit of 23.7%. Blood transfusion was initiated. Patient underwent stat CT abdomen and pelvis which showed a large volume of hemorrhage in the peritoneal cavity (). There was a focal hyper- dense area within the spleen. Computed tomography angiography (CTA) was performed which showed no evidence of aortic aneurysm or dissection. Superior mesenteric artery and inferior mesenteric artery were patent. There was active extravasation below the inferior aspect of the spleen which appeared to be the etiology for the large volume of hemoperitoneum (Figures and ). The patient was transferred to Interventional Radiology suite. Catheterization of the SMA was performed and mesenteric arteriography carried out. This demonstrated markedly diminutive vessels with active extravasation in the left lower quadrant of the abdomen from ileal branch. Ileal branch of superior mesenteric artery was identified as the source of bleeding (). Selective catheterization of multiple ileal branches was performed using a microcatheter. This again demonstrated active extravasation from a vasa recta branch in the left lower quadrant. The microcatheter was advanced. Embolization was performed using gel foam slurry followed by a 2 mm x 1 cm coil. Repeat angiogram demonstrated thrombosis of the embolized branch but continued extravasation through arcade collateral ().
Patient was transferred to OR. A rapid exploration of the abdominal cavity revealed distal ileal mesenteric hematoma of arterial branch. Evacuation of hematoma was performed. The mesentery itself was quite traumatized from the rupture of this mesenteric hematoma. The small intestine although viable was also affected significantly from the hematoma. Portion of small ileum was resected and reanastomosed. The bleeding mesenteric branch vessel was part of the resection. Patient was transitioned to critical care. Her condition started improving. She did not have any further bleeding complications. Patient was extubated successfully. Patient remained hemodynamically stable. She was slowly started on diet. Patient did continue to have loose watery stools postoperatively. Her C. difficile was negative. She was started on cholestyramine. She did not have any significant hemodynamic instability. Her hemoglobin remained stable. She was subsequently started on coumadin postoperatively. Patient was discharged to rehabilitation at postoperative day 9.
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pmc-6280236-1
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The patient is a 61-year-old woman with BRCA1 gene mutation. Her medical history is significant for Cesarean section and left ovarian cystectomy. She does not have any history of cancer. She presented for prophylactic total laparoscopic hysterectomy and bilateral salpingo-oophorectomy. During the procedure, the surgeon discovered a white nodule on the fimbriated end of the right fallopian tube and sent the right salpingo-oophorectomy specimen for intraoperative consultation. He also noted adhesions between the omentum and the right pelvic sidewall. Otherwise, there were no other in situ or grossly visible abnormalities.
On gross examination, the nodule was solid and firm and measured 0.5 x 0.1 x 0.3 cm. The entire nodule was frozen, and sections showed small, tightly packed tubules and nests of epithelioid cells in a fibrous background notable for many psammoma bodies (). The frozen section was interpreted as “epithelioid neoplasm with psammoma bodies, defer to permanents.”
On permanent section, a clearer cytologic assessment showed that the epithelioid cells were relatively small with regular, round nuclei, and even chromatin (). There was no significant atypia. Mitoses were inconspicuous. The larger cells appeared similar to signet ring cells with a vacuolated cytoplasm. The psammoma bodies were a striking feature also on permanent section. Thread-like bridging, a typical feature of adenomatoid tumors [], was observed in several foci of the lesion (Figures –).
Ancillary studies were performed. Mucicarmine stain was performed to assess the presence of mucin in the vacuolated cells which was negative. Immunohistochemical (IHC) studies revealed positivity for WT1, calretinin (), PAX8 (), and D2-40 (), and negativity for p53, estrogen-progesterone (ER-PR) receptors of the tumor cells. Epithelial markers including BerEP4/EpCAM, MOC-31, and B72.3 were all negative. The IHC reactions of WT1, calretinin, and D2-40 were positive and supportive of a mesothelial origin of the tumor [, ]. The vacuolated cells shared the same immunophenotype (). Based on the histopathology and the IHC reactions, the lesion appeared benign and was diagnosed as adenomatoid tumor with psammoma bodies. The remaining fallopian tube and ovary, which were entirely submitted, did not reveal any other diagnostic abnormalities.
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pmc-6280238-1
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(1) A 30 y.o. P0+1 underwent a successful ovulation induction with an intrauterine conception but subsequently suffered a missed miscarriage. She initially underwent a suction curettage for the miscarriage but re-presented 3 months later with abnormal uterine bleeding: prolonged menstrual bleed and intermenstrual bleed. Ultrasound findings were suggestive of retained products on conception. She was offered and consented to hysteroscopic removal (under general anaesthesia) to minimize the risk of repeat retention. Intraoperatively, a 1.5 cm area of retained products of conception was seen close to the right ostium. Complete product removal was achieved during a 7-minute procedure with minimal blood loss ().
(2) A 38 y.o. nulliparous female after in vitro fertilization and embryo transfer: The patient had a successful implantation but was subsequently diagnosed with a missed miscarriage. She had a spontaneous expulsion of products of conception and was scheduled for a repeat frozen embryo transfer. However, during ultrasound, she was noted to have retained products of conception and was offered hysteroscopic removal of the same. She had preoperative cervical ripening with misoprostol 400 mg per vaginum followed by hysteroscopic morcellation under general anaesthesia. Intraoperatively, a 1 cm area of product of conception was visualized at the posterior wall of the uterine cavity which was otherwise normal. The procedure was uncomplicated and lasted 6 minutes.
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pmc-6280254-1
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This is a case of a 59-year-old female with a past medical history significant for chronic obstructive pulmonary disease, prior stress cardiomyopathy with normal coronaries on left heart catheterization and hypertension who presented to the emergency department after being found down by a neighbor. Electrocardiogram (EKG) on admission was significant for sinus tachycardia with a heart rate of 104 beats per minute (bpm) with premature atrial complexes, biatrial enlargement, right axis deviation, and prolonged QT interval. Four minutes later another electrocardiogram was done which showed atrial fibrillation with rapid ventricular rate with a heart rate of 147 bpm and prolonged QT. She was given one dose of IV 5 mg metoprolol and given an amiodarone bolus of 150 mg and started on an amiodarone drip. In light of a CHADSVASC score of 4, she was also started on a heparin drip. Troponin I on admission was found to be 9 ng/ml (normal 0–0.03). She was admitted to the medical intensive care unit.
During this hospitalization her troponin I trended down to 1.5 ng/ml (normal 0–0.03). She had a transthoracic echocardiogram which showed left ventricular ejection fraction 55% (low normal) and a left ventricle apical thrombus measuring 0.95 × 0.7 cm which can be seen in . There were also regional wall motion abnormalities which included hypokinetic to akinetic basal myocardial segments, akinetic apex, and hyperdynamic midventricular segments which can be visualized in Figures
–. These findings were consistent with reverse midvariant takotsubo cardiomyopathy. She was discharged on aspirin, atorvastatin, metoprolol, and apixaban after 7 days in the hospital. The patient was lost to follow up.
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pmc-6280290-1
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A 73-year-old female with a past medical history of chronic pancreatitis, type 2 diabetes mellitus, gastroesophageal reflux disease, lower gastrointestinal (GI) bleed, hypertension, paroxysmal atrial fibrillation, cerebrovascular accident, seizure disorder, and pulmonary embolism (PE) presented to an outside hospital after a reported seizure at her nursing home. Emergency medical services were called at the nursing home and the patient was reportedly hypoxic with oxygen saturation in the 70s on room air with subsequent development of agitation and lethargy after the seizure. The patient was transferred to an outside hospital's emergency department (ED), where additional tonic-clonic activity was noted. She subsequently developed hypotension with a blood pressure of 52/36 mmHg that was refractory to crystalloid intravenous fluid resuscitation. Central venous catheter (CVC) was placed and norepinephrine was started for persistent hypotension. Labs were notable for leukocytosis, troponin elevation, and low mixed venous saturation on CVC venous blood gas. The patient was subsequently transferred to a tertiary care facility cardiac intensive care unit for evaluation of cardiogenic shock.
Upon arrival, the patient was alert and following commands, but disoriented. She was still requiring supplemental oxygen and norepinephrine for hypotension. Given the concern for cardiogenic shock, a stat bedside transthoracic echocardiogram was obtained, which demonstrated a large pericardial effusion with tamponade physiology. The patient was urgently taken to the cardiac catheterization lab for pericardiocentesis with a drain placement. This yielded 580 ml of hemorrhagic fluid with rapid improvement in hemodynamics following drainage. During the pericardiocentesis, fluoroscopy demonstrated two embolized fragments of the IVC filter within the right ventricle (RV). Review of past imaging revealed that the embolized fragment was visualized on computer tomography (CT) of the chest one year and one month prior to presentation. Upon further investigation from family, it was discovered that the patient's Bard G2 retrievable IVC filter was placed in April 2007 in the context of a PE with concurrent GI bleed. Pericardial fluid culture was negative, and cytology and fluid analysis were consistent with hemopericardium as cause of the pericardial effusion.
Cardiothoracic surgery was consulted due to the embolized fractured IVC filter. Surgery recommended cardiac CT angiogram (CTA) for further visualization of the fragment. Cardiac CTA demonstrated two fractured legs of the IVC filter, with one leg within the anterior myocardium of the RV and another penetrating the inferior septum through the middle cardiac vein (). 3-D reconstruction of the RV further visualized the two legs of the embolized IVC filter (). Repeat transthoracic echocardiogram one day after the pericardiocentesis revealed no reaccumulation of the pericardial effusion and the pericardial drain was successfully removed. A multidisciplinary team discussion took place with the family who elected to defer surgical removal of the IVC filter unless pericardial effusion reaccumulated due to the patient's comorbidities and age. She was discharged to her assisted living facility, and continues to do well at the time of this report.
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pmc-6280303-1
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A 24-year-old male initially presented to the emergency department with a 1-week history of nausea, malaise, and jaundice. He described dark urine, pale stools, and vague abdominal pain. He had no relevant past medical history, and he denied the use of any prescription medications, nonprescription medications, or supplements. He denied any smoking, alcohol, or drug use or any exposure to environmental toxins. His family is originally from Somalia, but he was born in Canada and lived in India for 8 years of his childhood. He had no recent travel outside of Canada. On physical examination, his blood pressure was 89/49 mmHg, pulse rate was 63 beats/min, temperature was 36.7°C, respiratory rate was 16 breath/min, and oxygen saturation was 98% while breathing room air. He was alert and oriented to person, place, and time. Scleral icterus was present, and he had mild right upper quadrant tenderness with negative Murphy Sign. There was no cutaneous evidence of intravenous drug use, and there were no stigmata of chronic liver disease. The remainder of the examination was unremarkable.
Initial bloodwork demonstrated significantly elevated aminotransferase and bilirubin levels and elevated international normalized ratio (INR) (). Complete blood count, renal function and electrolytes, and additional coagulation studies were within reference ranges. Serum and urine drug screens including acetaminophen were negative. Microbiological serology was negative for hepatitis A, B, C, and E, as well as CMV, VZV, Q fever, and toxoplasmosis. Copper and iron studies were unremarkable. Immunological serology was negative for anti-mitochondrial antibody, anti-liver/kidney antibody, and anti-centromere B. Titres of anti-nuclear antibody and anti-JO-1 were weakly positive.
An ultrasound scan of the liver was consistent with acute hepatitis and Doppler studies revealed patent hepatic and portal veins. A core needle biopsy of the liver was performed, which revealed inflammatory activity and apoptotic bodies spanning all zones of the liver, in keeping with acute cholestatic hepatitis, a pathological picture often related to drug-induced liver injury or nonhepatic viral infection (Figures and ). After investigations were complete and there was clinical and biochemical improvement, the patient was discharged from hospital on hospital day 9. However, no underlying etiology was identified.
Two months later, the patient presented to our hospital with symptoms and bloodwork similar to his original presentation (). Again, the history elicited did not reveal any new medications or exposures. However, with more directed questions regarding nonprescription medications and recreational substances, he disclosed that he engaged in weekly chewing of khat leaves for the past three years. He stated this was a cultural practice common within the Somali community, and it was easily obtainable in Canada. Given the unrevealing comprehensive diagnostic workup, it was considered that his liver injury may be related to his khat use. During the course of his admission and abstinence from khat, his transaminases improved and jaundice resolved (). He was discharged on hospital day 8. A diagnosis of khat-associated liver injury was made given the temporal relationship of use with worsening liver function, biochemical and clinical improvement with cessation of use, and the lack of evidence for an alternative diagnosis.
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pmc-6280325-1
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A 13-year-old girl was admitted to the pediatric emergency unit of Kanuni Sultan Süleyman Training and Research Hospital suffering from hypoglycemia, syncope and convulsive seizures. She had no notable health problem in her past medical history up to 11.5 years of age. Thereafter, she had six subsequent hospital admissions in the previous 1.5 years, mostly at emergency services for hypoglycemic convulsions and syncope attacks. She was born at term, weighing 3100 g from non-consanguineous parents after an uncomplicated delivery. On evaluation of her records, it was found that she had undergone hypoglycemic periods 2-3 times per day, but syncope attacks were independent from hypoglycemic episodes. She was diagnosed with hyperinsulinemia with a serum glucose level of 29 mg/dL with a concomitant serum insulin level of 25 IU/L. Positron emission tomography and abdominal ultrasonography were performed to determine the etiology of hyperinsulinemia, but revealed normal anatomic findings. At neurological counseling electroencephalography showed bilateral delta waves with spikes and cranial MRI revealed a 7 mm herniation of the cerebellar tonsils from the foramen magnum (). Further work-up with brainstem auditory evoked potentials and somatosensory evoked potentials, cardiac evaluation with echocardiography and holter monitoring revealed normal findings. Hypoglycemic episodes resolved in the following weeks but, although reduced in number, syncope episodes persisted. Pediatric psychiatry counseling results during her previous admission were not contributory.
At her present admission, the patient’s body weight was 55 kg (90th percentile) and height was 145 cm (25th percentile). Laboratory investigations revealed hypoglycemia (serum glucose level: 30 mg/dL) with a high insulin level of 50 IU/L. Serum C-peptide level was 5 pmol/mL (N: 0.5-1.30 pmol/mL) and cortisol 23 µg/dL (N: 6.2-19.4 µg/dL). After intravenous glucose, intramuscular glucagon and methylprednisolone treatment, glucagon infusion was initiated. Glucose levels were 40 to 65 mg/dL during the first 24 hours, but surprisingly, glucose levels of 80-90 mg/dL were detected in the course of 24 hours after stopping the infusion. Oral glucose tolerance test (OGTT) showed hypoglycemia at the 30th minute (glucose: 25 mg/dL) with an insulin level of 300 IU/L. We monitored our patient’s daily glucose levels by continuous glucose monitoring system [CGMS System Gold® (Medtronic Minimed, Northridge, CA)] and 14 hypoglycemia episodes were noted, most occurring during sleep or defecation or in the postprandial period with a maximum glucose level of 70 mg/dL in three days of follow-up. We measured glucose levels before and after defecation; results were 85 mg/dL and 29 mg/dL respectively. No adrenergic symptoms were observed during hypoglycemic episodes. Diazoxide (40 mg/kg) and octreotide (40 µg/kg) treatment had no effect. Dysarthria was noted in the first month of hospitalization with frequent hypoglycemia episodes. During this period, syncope attacks were observed four times, independent of hypoglycemia. Additionally, the patient had severe biparietal headache episodes in the morning lasting for two hours. These were unrelated to hypoglycemia and were followed by anisocoria. Myelography was performed for SIH and verified with two CSF leaks originating at the lumbar 2 level. The patient underwent a procedure of autologous epidural blood patch at the CSF leak site (), with good clinical results including complete control of her episodes of syncope, headache and hypoglycemia.
However, hypoglycemia recurred with dysarthria after two months and was attributed to displacement of the cerebellar tonsils, due to an epidural patch failure. Although the patient remains in good clinical condition after two subsequent epidural patch surgery interventions, neurologic problems and hypoglycemia persisted. Truncal vagotomy and partial pancreatectomy were planned for persistent hypoglycemia, because glucose levels were continuously under 29 mg/dL. At the initiation of this surgical intervention serum glucose was 25 mg/dL. Glucose level spontaneously normalized and was about 100 mg/dL during anesthesia. Truncal vagotomy was performed firstly. In order to test the efficiency of vagotomy, dextrose 10% solution infusion was initiated instead of 0.9% sodium chloride and serum glucose level increased to 180 mg/dL. Distal, partial pancreatectomy was performed additionally, to prevent another surgery risk. Post operatively diabetes mellitus developed. The patient was discharged with single-dose insulin glargine treatment and her follow-up has been successful for four years.
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pmc-6280328-1
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A 7 years 4 months old girl presented with excessive weight gain. She was born at term with a birth weight of 2900 g [-0.96 standard deviation (SD)]. The parents reported that she began to gain weight rapidly at 1.5 years of age. There was no consanguinity between the parents. The patient had two healthy siblings (of ages 11 years and 9 months). Body weight was 61 kg (±3.9 SD) and height was 130 cm (±1.8 SD) with a body mass index (BMI) of 36 kg/m2 (±3.3 SD). She had a plethoric facial appearance, axillary acanthosis nigricans, pale/blue fingers and toes and stage 2 thelarche, bilaterally. The patient was admitted to hospital for further evaluation. During follow-up, it was observed that she had episodes of excessive sweating and a body temperature as low as 35.4 °C. Blood pressure was 95/60 mmHg (95 percentile: 120/80 mm/Hg). Laboratory evaluation showed the following results: sodium (Na), 156 mmol/L [normal range (NR): 135-145 mmol/L]; aspartate transaminase, 87 U/L (NR: 8-45 U/L); alanine aminotransferase, 57 U/L (NR: 7-55 U/L); urine density, 1024. The remaining liver function tests, serum electrolytes, lipids kidney function tests and complete blood count were normal. The patient had no polydipsia; thus, hypernatremia was considered to be due to insufficient intake. Oral fluid replacement was given and the hypernatremia was corrected (Na: 141 mmol/L). Impaired glucose tolerance (141 mg/dL at two hours) was detected in the oral glucose tolerance test performed due to morbid obesity and acanthosis nigricans; and the patient was started on metformin. An abdominal ultrasound was performed, due to the elevated transaminase levels, which revealed grade 3 hepatic steatosis.
In terms of hormonal problems that may present in the patient’s follow-up hormonal evaluation revealed the following results: free T4, 0.7 ng/mL (NR: 0.98-1.6 ng/mL; thyroid stimulating hormone (TSH), 4.8 µIU/mL (NR: 0.5-4.3 µIU/mL); adrenocorticotropic hormone (ACTH), 24 pg/mL (NR: 10-60 pg/mL); cortisol, 1.5 µg/mL (NR: 3-21 µg/mL); LH, 1.3 mIU/mL (prepubertal NR: <0.3 mIU/mL); estradiol, 12.9 pg/mL (prepubertal NR: <12 pg/mL); prolactin (PRL), 33 ng/mL (NR: 4.7-23.3 ng/mL). Insulin like growth factor-1 (IGF-1) was <25 ng/mL and IGF binding protein 3 (IGFBP3) 1870 ng/mL. Bone age was advanced at 10 years. Peak cortisol response to low dose ACTH stimulation test was low (9.9 µg/mL).
A diagnosis of secondary adrenal insufficiency, central hypothyroidism and central precocious puberty was made and treatment was initiated with hydrocortisone, thyroxine and leuprolide acetate. No further evaluation or treatment was considered for GH deficiency, due to the patient’s normal height. However, a predisposition to neural crest tumor was considered despite the low IGF-1 and IGFBP3 levels of the patient. Brain and pituitary magnetic resonance (MR) imaging studies were found to be normal. The IQ score was 65. The pale appearance of the fingers was considered to be due to Raynaud’s phenomenon (). Alterations in body temperature and Raynaud’s phenomenon were attributed to autonomic dysfunction. Pulmonary hypertension was detected on echocardiography and nifedipine was prescribed.
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pmc-6280328-2
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A five year old girl with suspected epileptic seizures was referred for evaluation of obesity. The patient was reported to have sleep apnea and aggressive behavior. She was born at term, with a birth weight of 2800 g (-1.2 SD) and she had uncontrollable eating, starting at two years of age, with rapid weight gain. There was no consanguinity between parents and she had two healthy siblings. Body weight was 11 kg (±3.7 SD) and height was 101 cm (±1.7 SD) with a BMI of 30.4 kg/m2 (±5.7 SD) (). The patient had central cyanosis. Blood pressure was 90/60 mm/Hg (95 percentile: 115/75 mm/Hg). Axillary body temperature measurements varied from 35.6 to 39.5 °C.
Laboratory evaluation revealed the following results: Na, 164 mmol/L (NR: 135-145 mmol/L); urine density, 1018. The remaining biochemical parameters including liver enzyme levels and lipid profile were normal. The patient was considered as a case of adipsic hypernatremia. Oral fluid replacement was given, which normalized the Na value (140 mmol/L). Pituitary evaluation revealed the following results: free T4: 0.8 ng/mL (NR: 0.98-1.6 ng/mL); TSH: 1.8 µIU/mL (NR: 0.5-4.3 µIU/mL); PRL: 56 ng/mL (NR: 4.7-23.3 ng/mL). Remaining pituitary hormone levels were within normal limits.
Treatment was started for central hypothyroidism. The mild hyperprolactinemia persisted but no treatment was needed. Brain and pituitary MR imaging studies revealed normal results. Genetic tests for the Prader-Willi syndrome revealed no abnormality in the 15q11-q13 (SNRPN gene). In addition, the genetic analysis did not identify any abnormality in the gene associated with congenital hypoventilation syndrome, PHOX2B. IQ was compatible with a chronological age of 3 years. Imaging studies for neural crest tumor gave normal results. However, sleep apnea persisted and the central cyanosis progressed. The patient was transferred to the intensive care unit due to development of carbon dioxide retention (pH: 7.27, pCO2: 55 mm/Hg) and mechanical ventilation was initiated. Since the patient needed continuous ventilator support, she was discharged with a home ventilator after tracheostomy.
The clinical and laboratory characteristics of the two patients are summarized in .
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pmc-6280330-1
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This 2.5 years old male patient presented to our outpatient clinic with bilateral undescended testis. Family history is notable for 3rd degree consanguineous marriage in the parents. It is understood that bilateral, undescended testes were recognized by the family immediately after the birth, but the family did not visit a doctor. At presentation the patient had a weight of 13.5 kg [standard deviation score (SDS): -0.18] and a height of 94.0 cm (SDS score: 0.36). Stretched penile length was 4 cm. The testes could not be palpated bilaterally. A pelvic ultrasound detected a formation, suggestive of testis in the proximal segment of the inguinal canal, bilaterally. These structures were 7x5x7 mm in size on the right side and 7x5x9 mm in size on the left side. A uterus, Fallopian tubes or ovaries could not be visualized. Laboratory tests revealed a follicle stimulating hormone (FSH) concentration of 1.2 mIU/mL, luteinizing hormone (LH) concentration of 0.1 mIU/mL and total testosterone of 0.03 ng/mL. Concentration of 17-hydroxyprogesterone was 0.48 ng/mL and AMH: 35.1 ng/mL (normal range: 5-265 ng/mL). As the patient had bilateral undescended testes and the hormone profile was prepubertal, a human chorionic gonadotropin stimulation test was performed and testosterone response was normal. The patient was referred to the pediatric surgery clinic for orchiopexy. Rudimentary uterine, fallopian tube and vaginal remnants were seen at the orchiopexy operation. It was also reported that bilateral gonads resembling testes were found and biopsies were taken. The patient was referred to our outpatient clinic again due to the presence of these Müllerian structures. The biopsy specimens were consistent with bilateral testicular tissue. In the light of these findings, a diagnosis of PMDS was considered. Since AMH level was normal, AMHR2 gene mutation was considered.
AMHR2 gene mutation analysis was performed by sequencing of the coding exons and the exon-intron boundaries of the genes. Genomic DNA was isolated from peripheral blood cells with QIAGEN (Maryland, USA) DNA Blood Mini Kit according to the protocol provided with the kit. Sequencing was performed with Miseq V2 chemistry on MiSeq instrument (Illumina California, USA). Analysis was performed with Integrative Genomics Viewer software. Genetic analysis revealed a homozygous NM_020547.3:c.233-1G>A mutation in the AMHR2 gene (). This mutation has not been identified in databases previously. Analyses made with MutationTaster, and splicing modeling software (NNSplice, GeneSplicer and SpliceSiteFinder) showed that the mutation can cause the condition. According to the American College of Medical Genetics and Genomics 2015 criteria, this mutation was classified as “Pathogenic” ().
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pmc-6280337-1
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A 76-year-old Caucasian female attended our pulmonology outpatient clinic with a four-week history of cough with mucous-purulent sputum and dyspnea. The patient was a nonsmoker and had worked for a few years in a cotton factory. Her past medical history was negative for any contact with substances known to be associated with lipoid pneumonia. She had not travelled recently and had no pets. She had been treated for atrial fibrillation with amiodarone (200 mg OD) for 30 years, systemic hypertension, diabetes mellitus type II and hypothyroidism. Physical examination revealed a well built and nourished patient with pulse rate 69 per minute and blood pressure 110/70 mmHg. Vital signs were within normal range with SpO2 of 95% in room air. Her physical examination revealed bibasal lung crackles, but no evidence of pallor, icterus, cyanosis, clubbing or lymphadenopathy. Her blood work-up was within normal range. Pulmonary function testing demonstrated moderate restrictive lung disease and a decreased diffusion capacity. (see Table ).
Since chest X-ray showed bilateral infiltrates, a high resolution computed tomography (HRCT) was conducted. The latter revealed areas of ground glass appearance significantly in the lower lobes of both lungs and airspace consolidations were seen as well (Fig., [a], [b]). The shadows improved 2 years later (Fig. , [c]).
Radiologically, differential diagnosis included atypical pneumonia, interstitial lung disease and tuberculosis was ruled out. The patient underwent fiberoptic bronchoscopy for bronchial wash and bronchoalveolar lavage (BALF) was collected for immunological studies as well. The bronchial washings were sent for smear for acid fast bacilli and cytological examination. No microorganisms were isolated by 48bacteriological examination and no malignant cells were found.
The total cell count of the BALF was 287,500/ml. The cells consisted of macrophages (64%), lymphocytes (31%), neutrophils (3%), and eosinophils (2%). The evaluation of BALF with specific staining and coloration showed the presence of fat-laden macrophages (oil red O stain). Figure [a], [b] Extracellular oily droplets were found on a sputum cytology examination. These findings were suggestive of lipoid pneumonia.
The patient had never aspirated or inhaled mineral or vegetable oils and she had never used petroleum jelly intranasally or extra-nasally as a decongestant. However, it is described in the literature that chronic use of amiodarone can cause endogenous lipoid pneumonia (phospholipidosis) []. Amiodarone, as an amphiphilic cationic compound, interferes with the movement of phospholipids across intracellular membranes and inhibits phospholipid catabolism through its potent inhibitory effect on lysosomal phospholipase 2. Drug-induced phospholipidosis assumes the form of a ‘foamy cell ‘response.
In our case, the patient had been taking amiodarone (200 mg OD) for 30 years which was considered the most likely cause. It was therefore discontinued and replaced with digoxin (0.25 mg OD) for the treatment of atrial fibrillation. She was also started on oral prednisolone (20 mg OD) which was gradually tapered over a period of six months.
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pmc-6280344-1
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A five-year-old neutered male huacaya-alpaca showing sneezing for three weeks was presented to the Clinic for Swine, Small Ruminants and Forensic Medicine, University of Veterinary Medicine Hannover, Foundation, Germany. The alpaca was privately owned and kept on pasture together with four female alpacas. The sneezing was noticed for the first time by the owner about two to three weeks before presenting the animal to the clinic. He reported sneezing fits lasting up to two hours. Apart from that, the general condition of the animal was good. The four female alpacas did not show any symptoms to the author’s knowledge.
The alpaca had serous, clear nasal discharge coming out of both nostrils. During examination sneezing could be triggered by applying pressure to the bridge of the nose. The distending of the nostrils indicated that breathing was impeded (Fig. ). Auscultation of the lung revealed physiologically mild respiratory sounds on both sides.
The analysis of blood samples and faeces showed mild anaemia, granulocytosis and lymphopenia (Table ). Eosinophils were not increased above the upper reference limits []. Clinical chemistry revealed slight hyperproteinaemia, hyperalbuminaemia, hypercalcaemia and hypophosphataemia (Table ). In the faecal sample a very low number of gastrointestinal nematode eggs was found.
Endoscopic examination of the nose was carried out. Due to the tension of the alpaca, the examination was conducted under general anaesthesia (0.4 mg/kg xylazine [Xylavet 20 mg/ml®, CP-Pharma, Burgdorf, Germany], 4 mg/kg ketamine [Ketamidor 100 mg/ml®, WDT, Garbsen, Germany]) [], [] and local anaesthesia of the nostrils (Procainhydrochlorid, Epinephrin [Isocain ad us. vet.®, Selectavet, Dr. Otto Fischer GmbH, Weyarn/Holzolling, Germany]). The endoscope was inserted approximately 15 cm into the right ventral nasal meatus. At this position a soft tissue mass originating from the nasal mucosa was observed. There were no signs of an acute inflammation at this location. The mass filled out about a third of the lumen of the meatus and at least four living larvae were revealed in this tissue (Fig. ). No larvae could be removed due to technical reasons. Examination of the left nostril was not carried out because bleeding and noticeable mucosal irritation occurred while examining the right nostril. Under general anaesthesia radiographs of the head were taken. No abnormal radiopaque structures could be found on the radiographs.
The alpaca was treated subcutaneously with doramectin by a dose of 0.2 mg/kg (Dectomax®, Lilly Deutschland GmbH, Elanco Animal Health, Bad Homburg, Germany).
Five days after treatment, sneezing could not be triggered any more by pressing on the bridge of the nose. Six days after treatment another endoscopic examination under local anaesthesia (Isocain ad us. vet.®) was carried out. Compared to the first examination, the soft tissue mass had notably decreased; there were no more larvae visible within the mass (Fig. ).
In the endoscopy before the treatment with doramectin no larvae could be removed and, in addition, no larvae were sneezed out, so species of the bots could not be determined.
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pmc-6280358-1
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The patient is a 28 year-old male who had been diagnosed with right testicular cancer. He underwent right high orchidectomy in the department of nephro-urologic surgery in Mie University Hospital in Tsu city, Mie, Japan. The pathological diagnosis was seminoma, pT1N0M0, pStage IA according to the classification established by the Japanese Urological Association []. The risk status of tumor was classified as low risk by the International Germ Cell Consensus classification (IGCC) []. Thereafter, he received periodic check-ups. Follow-up CT performed at 3 months, 9 months, and 15 months after surgery did not indicate any abnormal findings suggesting recurrence and distant metastasis, but CT performed at 21 months after surgery detected a solitary dumbbell-shaped hypovascular tumor measuring 20 mm in Segment 7 of the liver (Fig. ). Abdominal ultrasonography revealed an 18.7 × 11.4 mm heterogeneous iso- and hypoechoic mass which displayed an irregular shape and indistinct margin and included hyperechoic spots in segment 7 of the liver, and it did not show flow signal in color doppler mode (Fig. ). Serum tumor markers, including CEA, CA19–9, AFP, PIVKA-II and hCG, were not found to be elevated. MRI showed a dumbbell-shaped liver tumor in segment 7 which had a low signal intensity on T1-weighted images (T1WI), high signal intensity on T2-weighted images (T2WI), marked signal hyperintensity in diffusion-weighted imaging (DWI), and no signal hypointensity on the ADC map (Fig. ). PET-CT was performed to confirm the presence of a malignant liver tumor and to search for further metastases in the other organs, but the liver lesion had no specific 18fluoro-deoxyglucose (FDG) uptake compared with normal liver tissue. No other metastasis was detected. Metachronous liver metastasis of testicular cancer was suspected and laparoscopic partial hepatectomy of segment 7 was performed. The resected liver sample included a white nodule of 12 mm in diameter with a regular border in which a tiny pinhole was present macroscopically (Fig. ). Microscopic examination showed epithelioid granuloma with central necrosis and infiltration of inflammatory cells such as monocytes and eosinophils infiltrated around the granuloma. Within the central necrosis, a small hole showed the presence of exogeneous material. There were no findings consistent with malignancy. The exogenous material displayed a lumen structure which was suspected to be due to larva migrans. A detailed microscopic examination revealed that the larvae had Y-shaped lateral cords, which are specific to anisakid larvae (Fig. ). However, it was difficult to make a definitive pathological diagnosis, because the larva body had collapsed. Therefore, the slide was sent to the National Institute of Infectious Diseases (NIID) to identify the type of larvae, and genetic examination using PCR method was performed. DNA was extracted from the deparaffinized slide, and the entire internal transcribed spacer (ITS) region (ITS1-28S region) was amplified by PCR using the primers NC5 and NC2 in the first round. Then nested PCR was performed in the second round to amplify the ITS1-28S region using the following primers that were originally constructed: AniT1F1: 5′-GTTGAACAACGGTGA CCAATTTGGC-3′, and AniT1R1: 5′-GAGTGATCCACCGCCAAGATTTGTAC-3′. An amplification product of 174 bp was obtained, and its sequence alignment was consistent with that of Pseudoterranova decipiens sensu lato but not with Anisakis simplex sensu stricto (Fig. ). Finally the liver lesion was pathologically and genetically diagnosed as hepatic anisakiasis due to Pseudoterranova decipiens sensu lato. These findings showed the liver lesion was not due to recurrence of testicular cancer. The patient was without recurrence for 2 years and 4 months.
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pmc-6280406-1
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A 41-year-old Caucasian woman presented with a mass in the distal part of her medial left thigh for which she underwent surgical resection; pathology was consistent with an extraskeletal myxoid chondrosarcoma, tumor size was 14.8 cm in greatest dimension, the closest margin was less than 0.5 mm from the tumor. Next generation sequencing (NGS) was performed using a commercially available platform; it showed the presence of the EWSR1–NR4A3 translocation, mutation in the tumor suppressor gene CHEK2, stable microsatellite status and low tumor mutational burden (TMB, 5 mutations/Mb). Mutations of unknown significance were found in genes related to known oncogenic pathways such as MAPK (MAP3K1 and 6), AKT (ZNF217) and NF-kB (IKBKE) or genes involved in chromatin remodeling (BCOR, MLL2), metabolism (AR), angiogenesis (GPR124) and immune response (PDCD1LG2). Patient was subsequently followed with surveillance imaging; 2 years later she was found to have a recurrence in the original surgical site; chest imaging showed multiple lung nodules. During the following 5 years the patient was enrolled sequentially into 3 clinical trials testing the following drugs: brivanib, a vascular endothelial growth factor receptor 2 (VEGF2) inhibitor, KW-2450, an insulin-like growth factor 1 receptor and insulin receptor (IGF-R1/IR) tyrosine kinase inhibitor (TKI) and PTC299, a vascular endothelial growth factor (VEGF) inhibitor. After further progression of disease in the left thigh, left pelvis, lung and liver, she was started on the TKI pazopanib. At that time the chest imaging was remarkable for massive infiltration by innumerable lung lesions with very low-background metabolic activity (Figs. , ); of note, patient denied any significant shortness of breath at rest or when walking.
Seven years after diagnosis, given compression of the left common vein from the tumor, the patient underwent percutaneous transluminal venous angioplasty and stenting with markedly improved blood flow. One year later, given anatomic progression of the pelvic and left inguinal mass, she underwent palliative radiation therapy with photons to a mass in the left pelvis (17.4 × 13.4 cm, SUV = 3.6) and left inguinal area (15.1 × 6.9 cm, SUV = 3.3): 4500 cGy were delivered in 18 fractions. A PET/CT done about 4 months after completing radiation therapy showed a metabolic and anatomic response within the pelvic mass (11.8 × 9.2 cm, SUV = 2.8) and the left inguinal area (12.1 × 4.6 cm, SUV = 2.7; Figs. , ). The patient continued pazopanib 600 mg daily (dose was reduced because of diarrhea) with overall stability of disease during the following 4 years of follow-up. After 3 years, given worsening diarrhea with multiple episodes per day (grade 3 per CTCAE criteria), pazopanib was further dose reduced to 200 mg daily. A new CT scan done after about 5 months since this dose reduction, showed increase in size of multiple large left external iliac, femoral and inguinal nodal masses with diffuse tumor infiltration into the left distal external iliac and femoral veins. Patient underwent angioplasty and stenting of left femoral and iliac veins with good reperfusion.
Patient continued the dose reduced pazopanib that was increased to 400 mg after this procedure; she is not able to tolerate higher doses due to worsening diarrhea. She has an ECOG PS of 1 due to a sense of heaviness to her left lower extremity from chronic edema but no other significant symptoms such as shortness of breath or pain.
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pmc-6280410-1
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A 64-year-old woman with a history of Crohn’s disease (CD) was referred to Siriraj Hospital located in Bangkok, Thailand in June 2017 due to worsening of abdominal pain and watery diarrhea for 2 weeks. She was diagnosed with CD in 2010 after she presented with abdominal pain and palpable mass at the right lower quadrant (RLQ) of her abdomen. She was treated successfully with prednisolone 40 mg/day, azathioprine 50 mg/day, and mesalazine 2400 mg/day. Her disease was then controlled with prednisolone 5 mg/day and the same dose of azathioprine and mesalazine. One year after her CD diagnosis, she developed severe abdominal pain and diarrhea. A colonoscopy was performed, which showed inflamed mucosa and a clean-based ulcer at the cecum. Biopsy revealed an intracytoplasmic inclusion body, which is consistent with cytomegalovirus (CMV) colitis. Her symptoms gradually subsided after 3 weeks treatment of intravenous ganciclovir 5 mg/kg twice daily. Two years after her CD diagnosis, she began experiencing recurrent abdominal pain. Abdominal computed tomography (CT) and colonoscopic findings revealed a large polypoid mass at the ascending colon with partial colonic obstruction that was suspected to be caused by active CD. She was managed conservatively and was discharged home with prednisolone 30 mg/day, azathioprine 150 mg/day, and mesalazine 2400 mg/day after making substantial improvement. Even though she remained stable for about 4 years after her most recent discharge, she still required prednisolone 5 mg/day, azathioprine 150 mg/day, and mesalazine 2400 mg/day to control her disease activity. Her last colonoscopy with biopsy, which was performed 6 months earlier to monitor her disease activity, revealed a shallow 1 cm2 ulcer that was covered with white exudate at the cecum, and multiple polypoid masses at the ileocecal (IC) valve. The histopathologic findings revealed a chronic ulcer with marked active inflammation, a hyperplastic polyp with chronic ileitis, and no viral inclusion, dysplasia, or malignancy. Eight weeks ago, she started complaining of intermittent cramping at the RLQ of her abdomen. The dose of azathioprine was increased to 175 mg/day for presumed exacerbation of CD; however, her pain worsened, and she eventually developed a low-grade fever and watery diarrhea for 2 weeks before admission. She denied having any pulmonary symptoms. On examination, her body temperature was 38.6 °C and she had abdominal tenderness and a palpable mass at the RLQ of her abdomen. All other examination findings were unremarkable.
Laboratory investigations revealed a white blood cell (WBC) count of 2010 cells/mm3 with 90.5% neutrophils and 8.5% lymphocytes, and a hemoglobin level of 8.2 g/dl. Chest X-ray showed an oval-shaped cavitary lesion at the right lower lung (Fig. a). A CT scan of the chest revealed a large cavitary lesion (5.4 × 3.2 cm) with irregular wall thickening at the right lower lobe, and an adjacent focal centrilobular nodule with tree-in-bud pattern. A CT scan of the abdomen revealed chronic wall thickening at the cecum, IC valve, and terminal ilium, with submucosal edema and pericolic fat stranding. The patient underwent colonoscopy and biopsy, and a polypoid mass was observed at the IC valve with multiple clean-based ulcers at the cecum (Fig. a). Since the initial diagnosis was active CD, the tissue was sent only for histopathology. No fresh tissue was submitted for fungal culture. Pathologic examination of the tissue biopsy revealed active ileitis and colitis with multiple round shape organisms. The capsules of the observed organisms could be visualized by hematoxylin and eosin (H&E), periodic acid-Schiff (PAS), Grocott-Gomori’s methenamine silver (GMS) staining, and mucicarmine stain, which is compatible with Cryptococcus spp. (Fig. ). Even though serum cryptococcal antigen was positive with a titer of 1:128, blood, bone marrow, and cerebrospinal fluid cultures for fungus were all negative.
The final diagnosis was disseminated cryptococcosis due to gastrointestinal and presumed pulmonary involvement. Initial induction therapy with amphotericin B deoxycholate (AmBD) 0.7 mg/kg per day was given for 6 weeks, followed by consolidation therapy with fluconazole 800 mg/day for 8 weeks. After consolidation, maintenance treatment with fluconazole 200 mg/day was prescribed for up to 1 year. After diagnosis of disseminated cryptococcosis, the immunosuppressive agents were adjusted as follow: discontinued azathioprine, decreased the dose of prednisolone to 15 mg/day, and maintained mesalazine at 2400 mg/day. Her clinical status was gradually improved, and the colonoscopy that was performed at 10 weeks after the start of treatment showing marked improvement in the polypoid mass-like lesion at the cecum (Fig. b). Even though the diagnosis of pulmonary cryptococcosis was not confirmed by pathology or microbiology, her chest X-ray the 3-month follow-up showed marked improvement (Fig. b).
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pmc-6280435-1
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A 61-year-old white woman with an unremarkable medical history was referred for an evaluation of an asymptomatic retinal hemorrhage detected in her right eye. Her past ocular history was significant for a complete posterior vitreous detachment in the right eye. Her best-corrected visual acuity was 20/20 in each eye. Anterior segment examination and applanation tensions were unremarkable. Ophthalmoscopic examination of the right eye identified subretinal hemorrhage surrounding a pigment epithelial detachment (PED) located above the superotemporal vascular arcade (Fig. a). Spectral-domain optical coherence tomography (SD-OCT) demonstrated the presence of a PED accompanied by irregularities of the retinal pigment epithelium (RPE) profile (Fig. b). Optical coherence tomography (OCT) B-scan with angiographic flow overlay showed a peaked PED with intrinsic flow signal (Fig. c). Ophthalmoscopic examination of the left eye demonstrated a PED nasal to the optic nerve (Fig. d) characterized by a dome-shaped elevation of the RPE with a shallow irregular portion on SD-OCT (Fig. e), whereas the angiographic flow overlay revealed intrinsic flow signal (Fig. f). Multiple, small, cuticular drusen appearing as small hypoautofluorescent dots on fundus autofluorescence (FAF) were seen in both eyes along the vascular arcades (Fig. a, b). Indocyanine green angiography (ICGA) showed focal areas of hyperfluorescence within the PEDs, indicative of AT1 (Fig. c, d).
OCT angiography en face slab demonstrated aneurysmal dilatation arising from a type 1 neovascular network, particularly evident in the right eye (Fig. a, c, e) with active lesions. As comparative imaging from the patient’s prior examination showed increased hemorrhage, treatment with anti-vascular endothelial growth factor (VEGF) therapy was initiated for the right eye at that time.
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pmc-6280442-1
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A 78-year-old man with CAD risk factors of diabetes mellitus, smoking, and hypertension was transferred to our department from a local hospital with the diagnosis of unstable angina pectoris. The percutaneous coronary intervention was performed by an attending physician with 3 years of interventional experience, and was guided by an expert operator. Coronary angiography performed via the right radial artery revealed 70% occlusion of the proximal segment of the left main anterior coronary artery (LM) and 90% occlusion of the proximal segment of the left anterior descending coronary artery (LAD). The diagnostic catheter(6F TIG, TERUMO, Japan) was withdrawn, and the hydrophilic guidewire (Merit Laureate; Merit Medical, USA) was advanced. Unnoticed, it strayed into the distal right IMA. When the guiding catheter (6F EBU3.5, Medtronic, USA), advanced over the guidewire, reached the proximal-middle segment of the IMA, the patient complained of intolerable chest pain. The guiding catheter and guidewire were immediately withdrawn. The guidewire was reintroduced into the aortic sinus and the guiding catheter was delivered to the left coronary artery, and balloon dilatation and stenting of the LM and LAD was performed. The patient again complained of severe chest pain, and his blood pressure began to fall. His condition deteriorated despite administration of opioid analgesics and intravenous fluids (Fig. a). Transthoracic echocardiography ruled out cardiac tamponade and aortic dissection. Fluoroscopy was suggestive of a right-sided pleural haemothorax (Fig. c). IMA angiography revealed obvious exudation of contrast in the third rib segment of the right IMA. A 2.0 mm × 15 mm semi-compliant balloon (MINI TREK, Abbott, IL, USA) was introduced up to the site of the leak and kept inflated for 20 min to reduce the exudation. Bleeding was finally staunched by embolization with coils (Fig. b). However, the patient developed cardiac shock and suffered a cardiac arrest. He was successfully resuscitated and transferred to the cardiac care unit, where he was intubated and mechanically ventilated (Fig. d). He was treated with chest tube drainage, intravenous fluids, and blood transfusion. Subsequently, after cardiac rehabilitation, he was discharged from hospital 23 days after admission.
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pmc-6280501-1
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A 59-year-old man presented to the clinic with difficulty swallowing. An endoscopic study revealed an ulcerative esophageal tumor 36–40 cm from the upper incisors, and biopsy results indicated squamous cell carcinoma. He also had severe funnel chest, and his sternum was almost attached to the vertebral bone (Fig. ). He previously noticed this chest deformity but had no symptoms such as chest pain; therefore, he had not undergone medical examination for this condition. The Haller index (i.e., the distance of the inner rib cage divided by the distance between the sternal notch and the vertebrae []) was 9.9 (Fig. ). According to the UICC-TNM classification (version 7), the final preoperative diagnosis was stage IIIA, squamous cell carcinoma (cT3, cN1, cM0) (Fig. ). Although he had severe funnel chest, the preoperative examination revealed that his condition was generally good and he was fit to undergo surgery under general anesthesia. Two courses of 5-FU (800 mg/m2)/cisplatin (80 mg/m2) were administered as standard neoadjuvant chemotherapy. Then, we planned to perform funnel chest surgery (Nuss method) before esophagectomy, in order to achieve a suitable width in the mediastinum to allow for thoracoscopic surgery.
First, two convex metal bars were inserted under the sternum through small bilateral thoracic incisions. The bars were inserted with the convexity facing posteriorly. When the bars were in position, they were turned over to reconstruct the sternum and widen the mediastinum so that esophagectomy could be performed (Fig. ). Radical thoracoscopic esophagectomy with three-field lymph node dissection was performed with the patient in the left decubitus position, followed by gastric conduit reconstruction through the posterior mediastinum route. Surgery was performed without any complications, and the postoperative course was uneventful. Pathological staging according to the UICC-TNM classification (version 7) indicated stage IIIA (pT3, pN1, cM0). The metal bars were removed 1 year after surgery. The patient was in good condition at the 2-year follow-up examination.
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pmc-6280523-1
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A 53-year-old man was referred to our hospital with purulent cough and progressive dyspnea of a few months’ duration. He had a history of tuberculosis at 31 years of age and had no other pulmonary diseases. He had never smoked cigarettes.
Upon physical examination, chest auscultation detected coarse crackles from the right lung and slight wheezes, bilaterally. Chest radiography showed cavitary lesions in the right upper lung field and consolidation in the right lower lung field (Fig. a). Chest computed tomography (CT) revealed bronchiectasis and cavitary lesions with a fungus ball in the right upper lobe and mucoid impaction in the bronchi of the right lower lobe (Fig. b–d).
Laboratory examination revealed a total leukocyte count of 14,000 cells/μL (reference range 3500–8500 cells/μL) with 45.1% eosinophils (reference range 1–6%), elevated serum total IgE levels of 19,100 IU/ml (reference range < 173 IU/ml), elevated Aspergillus-specific IgE of 46.3 kUA/L (reference range < 0.35 kUA/L) by fluorescence-enzyme immunoassay, as determined at a commercial laboratory (SRL Inc., Tokyo, Japan).
Pathological examination of transbronchial lung biopsy specimens from the right B3 revealed fungal filaments compatible with Aspergillus species. Examination of bronchoalveolar lavage fluid (BALF) showed 3056 cells/μL with 70.5% eosinophils, 17.5% neutrophils, 10.5% macrophages, and 1.5% lymphocytes. Culture of sputum and BALF did not grow any fungus. Head and neck examination by fiberscope and magnetic resonance imaging revealed no evidence of sinusitis. Thus, ABPA with concomitant aspergilloma was diagnosed based on the International Society for Human and Animal Mycology criteria [].
One month after referral, prednisolone (0.5 mg/kg/day) and itraconazole (ITC, 200 mg/day) were administered for ABPA. ITC was switched to voriconazole (VRC, 400 mg/day) 1 month later, as the patient’s symptoms and radiographic findings showed no improvement. Although the imaging findings revealed improvement of the cavitary lesions and mucoid impaction after 1 month (Fig. e–h), he still had cough and productive sputum. At the time, VRC was decreased to 200 mg/day due to liver dysfunction. To control the disease further, lobectomy of the right upper lobe was performed without any complication, 4 months after initiation of treatment. Pathological examination of the resected lobe revealed fungal filaments compatible with Aspergillus species without evidence of malignancy. The surgery resulted in gradual improvement of the patient’s symptoms, imaging findings (Fig. i–l), and serum total IgE levels. Due to his stable course, prednisolone and VRC were discontinued 5 and 7 months after surgery, respectively.
Twenty-three months after discontinuation of the medical treatment, the patient complained of gradually worsening cough and dyspnea. Additionally, the patient’s eosinophil count and serum total IgE had been steadily increasing throughout the previous year. CT showed recurrent bronchiectasis and cavities with mucoid impaction in the right lower lobe (Fig. a). Bronchoscopy was performed and culture results of bronchial washings from the right lower lobe revealed no evidence of bacteria, mycobacteria, or fungus. Despite the lack of evidence of Aspergillus infection, prednisolone (0.5 mg/kg/day) was prescribed for relapsed ABPA, based on the elevated serum IgE and pathological CT findings. Two months after treatment was initiated, the patient remained symptomatic, and CT showed a cavitary lesion with fungus in the right lower lobe (Fig. b). Additional treatment with VRC (400 mg/day) for 3 months resulted in improvement of his symptoms and CT findings (Fig. c).
Due to the markedly elevated serum total IgE, CT imaging was repeated 18 months after the re-treatment, although the patient’s symptoms had remained stable. CT revealed progression of the fungus balls inside the large cavity in the right lower lobe (Fig. d). The addition of VRC (400 mg/day) resulted in a decrease in the serum total IgE. VRC was discontinued after 20 months as the patient’s condition had become stable by that time. The aspergilloma improved slightly over a 5-year period (Fig. e), and ABPA remained well-controlled with low-dose prednisolone (5 mg/day). The summary of the treatment course is shown in Fig. .
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pmc-6280524-1
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A 65-year-old Saudi Arab man presented to an emergency department with lip and tongue swelling and dysphagia. There were no other systemic symptoms. He was taking perindopril and reported no history of problems after the intake of ACE inhibitors for hypertension. There was no other associated background, no drug-related or food-related allergies, and no previous history of similar episodes. His medical history included essential hypertension and benign prostatic hyperplasia, and he had consumed one tablet of perindopril 5 mg and one tablet of amlodipine 5 mg daily over the previous 3 weeks, along with one tablet of prolonged-release alfuzosin 10 mg daily over the previous 6 months. He had never taken any over-the-counter medications or herbal supplements, and his family history was insignificant for similar allergies or atopy.
There was no complaint of headache, fainting, dizziness, shortness of breath, chest pain, or any cardiac problem. On examination, cyanosis was absent. His bowel and urinary habits were normal, and there was no known clotting or blood disorder and no endocrine abnormality. He was financially stable; he was a non-tobacco smoker; he was generally alert and active.
A physical examination revealed considerable swelling of his lips and tongue. He was well oriented in time, place, and person. His vital signs were as follows: temperature, 37 °C (98.6 °F); heart rate, 101 beats/minute; respiratory rate, 22 breaths/minute; oxygen saturation, 99%; and blood pressure, 147/88 mmHg.
There was no abnormal pulse or palpable lymph node, and examinations of other systems revealed unremarkable findings. His skin was normal in appearance, temperature, and texture, and there was no rash or pruritus. There was no dull sound on percussion, and normal ventral breathing was observed on auscultation. Inspiratory stridor, wheeze, and rhonchi were absent. An examination of his cardiovascular system revealed normal heart sounds SI and S2 (S1 + S2 + 0), without any thrills or heaves. His abdomen was soft, non-tender, and symmetrical, while his bowel sounds were normal in intensity and quality in all areas. No splenomegaly or masses were noted; his liver span was found to be 9 cm on percussion.
All laboratory values were within normal limits. Electrocardiography demonstrated sinus rhythm, a normal P axis, and V-rate 50–99. However, abnormal R-wave progression and early transition were observed, with the QRS area > 0 in v2.
A clinical diagnosis of perindopril-induced angioedema was made, and perindopril was discontinued. In the emergency department, intravenously administered hydrocortisone 200 mg and 1 L of normal saline was administered along with intravenously administered ranitidine 50 mg and intramuscularly administered magnesium 25 mg and promethazine 50 mg. Subsequently, he was nebulized with salbutamol 5 mg and admitted to a medical ward, where he was fully conscious and oriented, with the following vital signs: temperature, 37 °C (98.6 °F); heart rate, 104 beats/minute; respiratory rate, 22 breaths/minute; oxygen saturation, 99%; and blood pressure, 147/88 mmHg. Chest auscultation revealed normal findings, with normal ventral breathing without wheezing.
He received the following medications in the ward: amlodipine 5 mg orally administered once daily, chlorpheniramine maleate 10 mg orally administered once daily, ranitidine 150 mg orally administered twice daily, hydrocortisone 100 mg intravenously administered three times daily, promethazine 50 mg intramuscularly administered twice daily, and paracetamol 1 g intravenously administered as needed.
His lip and tongue swelling gradually subsided, and he remained in the hospital for only 1 day. He was discharged when his symptoms alleviated and he felt better. He was advised against the consumption of any type of ACE inhibitor. At the time of discharge, the following medications were prescribed: amlodipine 5 mg orally administered once daily, ranitidine 150 mg orally administered twice daily, and prednisolone 10 mg orally administered twice daily for 2 days. He was recalled after 7 days. At the follow-up visit, he did not complain of any recurrence.
The probability of perindopril causing an adverse event in a patient was assessed using the Naranjo Adverse Drug Reaction Probability Scale, which systematically eradicated all other possible etiologies for a reaction and correlated with the onset of symptoms associated with suspected drug use []. His score indicated a probable association between perindopril and angioedema of the lips and tongue.
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pmc-6280544-1
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A 5-year-old boy presented with a 9-month history of recurrent hemoptysis and mild wet cough. Chest X-ray revealed left hilar enlargement (Fig. a), and subsequently an emerging cavity within high-density consolidation (Fig. b). He was treated for tuberculosis for 5 months, but his hemoptysis (2–10 ml of blood each time) became worse. On admission to our hospital, contrast-enhanced computed tomography (CT) revealed high-density opacities occupying the left upper lobe, and consolidation with cavitation and calcification adjacent to the mediastinum (Fig. c-d). We considered an atypical intrapulmonary tumor or malformation, and performed an open thoracic exploration for a definitive diagnosis. Exploration revealed a thymic mass tightly adherent to the left lung, which was partially eroded. The left upper lobe and tumor were excised completely.
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pmc-6280544-2
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A 3-year-old boy presented with a 11-month history of hemoptysis and mild wet cough, with 7 months of intermittent low fever and right thoracic collapse, and 5 months of right-sided chest pain. Chest X-ray revealed right-sided pulmonary consolidation and pleuritis. He was treated with antibiotics, but nonetheless he continued to expectorate bloody sputum or blood (2–5 ml on each occasion), and chest imaging revealed pleural thickening. Pleural decortication was performed and histopathologic analysis revealed fibrous tissue without granuloma. Consequently, he was treated for tuberculosis for 5 months; however, during this time he began to complain of right-sided chest pain. On admission to our hospital, contrast-enhanced CT revealed diffuse high-density opacities with patchy shadowing and stripes, many small areas of calcification and cavitation in the lower lobe of right lung, irregular soft tissue of mixed density in the right inferior mediastinum, and calcification in the thickened pleura (Fig. a-b). We made the differential diagnoses of mediastinal teratoma or multifocal myofibroblastoma. On thoracoscopy, we identified a mass tightly adherent to adjacent tissue in the base of the thoracic cavity adjacent to the costospinal angle, and severely adherent, thickened, fibrotic pleura. Most of the right lower lobe was consolidated, necrotic and eroded, while most of the upper and middle lobes were compressed and atelectatic. The tumor and necrotic tissues were excised completely, and air leaks repaired.
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pmc-6280544-3
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A 9-year-old girl presented with a 3-month history of right-sided chest pain and right upper limb pain. In the early stages, she had become suddenly dyspneic after an episode of strenuous exercise. Laboratory investigations showed a WBC count of 22.65 × 109 /l with 77.1% neutrophils, and a serum CRP concentration of 160 mg/l (normal range < 8 mg/l). Thoracic CT revealed right-sided pulmonary consolidation and massive pleural effusion (Fig. a). On closed thoracentesis a turbid effusion was drained; it was found to have an elevated leukocyte count of 61,152 × 106/l. An acid-fast stain and bacterial, fungal and mycobacterial cultures of the pleural effusion were negative. Subsequent CT revealed pachypleuritis and a low density mass (Fig. b). Pleural decortication was performed and histopathologic analysis revealed fibrous tissue with granuloma. She was successively treated with vancomycin and anti-tuberculosis drugs; however, CT revealed an encapsulated effusion. On admission to our hospital, contrast-enhanced CT revealed a right-sided mass with multiple focal fatty densities adjacent to the heart (Fig. c-d). On thoracoscopy, a thymic mass was completely excised. It had been tightly adherent to the right lung, pericardium and diaphragm, all of which were heavily eroded.
All patients were previously healthy and received routine BCG vaccination 3 days after birth. Interferon-gamma release assays in periphery blood, and acid-fast staining in histopathologic analysis were negative in all patients. Histopathologic analysis revealed pancreatic tissue in all patients, and calcification in patients 1 and 2 (Fig. e, Table ). All patients were finally diagnosed with mature cystic-solid mediastinal teratoma (affecting the left upper mediastinum, the right inferior mediastinum and the right anterior mediastinum in patients 1, 2 and 3, respectively). The patients have been followed-up for between 2 years and 6 years. Their recoveries have been uneventful, and there is no evidence of tumor recurrence.
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pmc-6280599-1
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A 90 year old woman was admitted to our General Surgery Unit with widespread abdominal pain after recent self discharge from another hospital with a diagnosis of caecal colitis. Past medical history was significant for normal colonoscopy two years prior to presentation, as well as appendicectomy, cholecystectomy and hysterectomy. On admission the patient underwent an abdominal/pelvic CT scan as well as basic pathology testing. Pathology results were unremarkable aside from a CRP of 65 mg/L (<5). The CT scan demonstrated a thick walled caecum and pericaecal inflammation suspicious for a perforated carcinoma ().
A colonoscopy was performed following intravenous antibiotic therapy and echocardiography. Endoscopy demonstrated an obvious neoplasm in the caecum. Histology confirmed an infiltrating poorly differentiated adenocarcinoma. Laparoscopic right hemicolectomy was performed by the consultant colo-rectal surgeon a week later. Post op recovery was uneventful. On the seventh postoperative day the patient developed low grade fever of 38 ° on the context of increasing malaise, lethargy and non-specific abdominal pain. A septic screen was performed which demonstrated a white cell count rise to 15.5 (10^9/L) and a CRP of 90 mg/L, however chest x-ray, urine culture and blood cultures all remained negative. Subsequent CT scan demonstrated a mycotic abdominal aortic aneurysm in the upper abdominal aorta involving coeliac axis and superior mesenteric artery. Tazocin was initiated and the vascular surgery team was consulted. The aneurysm was not suitable for endovascular stent due to anatomic location across major visceral arteries, and major surgery for open repair deemed inappropriate (, ).
Available treatment options were discussed with the patient and family. The patient was later discharged and palliated at home, dying from presumed spontaneous aortic rupture 2 weeks later.
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pmc-6280601-1
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A 51-year-old woman presented with a massive painless lump on both of her thighs that had been enlarging for the past 6 months. The patient denied any history of trauma, manipulation, or injection around the lump before. She was otherwise healthy despite her lumps. However, she had a history of lymph node tuberculosis on her neck about 25 years before and underwent tuberculosis chemotherapy regiment for about six months.
On the local physical examination, we found a painless non-mobile distention on her gluteal and upper femoral region bilaterally with some fluctuation and cystic consistency on palpation of the mass. The initial largest diameter of her thigh was 60 cm on the left and 45 cm on the right. There was no signs of inflammation, sinus or fistula around her thighs and buttock, or any remarkable signs on physical examinations (). Laboratory examinations however, showed elevated level of ESR and CRP. Mantoux test were inconclusive due to previous infection of tuberculosis. Radiological examination showed no signs of abnormality besides the expanding soft tissue shadow especially on her left femur region.
MRI examinations were then performed over the lumbosacral and pelvis region. Sagittal T2 weighted MR images of the sacrum showed destruction on anterior lower sacral segments, with hyperintense anterior lesion and presacral abscess. Axial T2 weighted images confirmed sacral body destruction and extension of the hyperintense lesion that involved the insertion of piriformis muscle (a and b).
Pelvic axial fat-suppressed (FS) T2 weighted images gave another extended view of the lesion, showing lateral extension of the lesion over the posterior ilium that also extended to superior and inferior filling the gluteal compartment beneath the gluteus maximus and tensor fascia lata (c). Involvement of the piriformis muscle and gluteus medius were confirmed at the coronal FS-T2 images of proximal femur, in which there was a hyperintese bony lesion at the tip of greater trochanter.
The abscess also extended distally through the space around the greater trochanter between the vastus lateralis and tensor fascia lata without any intracapsular involvement of the hip joint (a). Distal extension of the abscess reached the level of midshaft femur beneath the hamstring and tensor fascia lata muscle (c).
Due to the previous history of tuberculosis and the endemic nature of the disease, we started anti-tuberculosis treatment (ATT) initially for about 2 weeks. Serial laboratory examination of ESR and CRP showed remarkable decrease, which substantiates our working diagnosis. Surgical debridement and biopsy was performed. A curved incision centered on the left greater trochanter was used since it was the convergence point of the abscess on MRI images (b). Superficial dissection of posterior approach of the hip were used and after dissecting the gluteus maximus muscle, sero-purulent liquid discharged from the plane. Further debridement was performed and about 2.7 liters of pus were evacuated. There was intact muscular structure around the greater trochanter as well as the short external rotator thus the debridement were not extended to the hip joint (). An additional debridement through posterior midline incision through the multifidus muscle around the sacral region were also performed but turned out negative. During the wound closure, a submuscular drain was put and minimal production was found during the first two days. The patient was discharged and started her antituberculosis drug regime due to high suspicion of tuberculosis.
On the two weeks follow up, the surgical wound healed without any complication and there were no signs of recurrent fluid collection. Despite negative result on the culture result, the histopathological examination showed a necrotic tissue with appearance of epitheloid cells, lymphocytes, histiocytes, and Langhans multinucleated giant cells which was in accordance with chronic inflammation due to tuberculosis. Neither recurrence nor complication was found after 6 months follow up.
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pmc-6280629-1
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The work has been reported in line with the SCARE criteria [].
In November 2017, A 36 years old Saudi male with known case of IDDM, presented to the emergency department complained of 1 month history of diarrhea and cough. Diarrhea was watery with productive cough, yellowish in color, associated with shortness of breath and weight loss, no history of hemoptysis or abdominal pain, no contact with sick patient or using drug. No past surgical history. No significant family neither psychological history.
On examination: Conscious oriented alert, not on respiratory distress, not pallor neither cyanosis, with lower limb edema grade 3, the patient was visibly underweight. Cardiovascular examination was unremarkable, Chest examination decrease air entry on left side with inspiratory crackle. Other systemic examinations were unremarkable.
His workup WBC 14.2 × 109/L,hgb7.1 g/dl, platelets 660 × 109/L, albumin 18 g/L, ESR 89 mm/h, CRP 74 mg/L and ECG was showing normal sinus rhythm. Chest x-ray revealed a cavity at the left side with pleural effusion (). Patient was admitted for workup for his chronic diarrhea. His CT of chest and abdomen (, ) revealed left upper lobe air space consolidation associated with secretion with in left upper main bronchus as well as cavity lesion inside, measuring 3 × 4 × 3 cm, with bilateral plural effusion, abdominal wise there was left inferior subpleural cavity like abscess measuring about 11 × 10 × 12 cm invading pleural and splenic communicating with posterior fundus of the stomach, with upper pole splenic infarction. Bronchoscopy of the left bronchus was having thick mucus in which BAL and biopsy was taken, the BAL culture and sensitivity was negative, while the biopsy was positive for mucormycosis. Upper GI endoscopy showed gross spleen invading fundus of the stomach as shown in ().
Surgical management was considered for him including: left thoracotomy with left upper lobectomy, exploratory laparotomy, splenectomy and wedge resection of the stomach ().
He was covered pre- and post-surgery with amphotericin B and micafungin for 2week. Culture of specimens from lung and spleen showed Mucormycosis as shown in (). After two weeks patient was discharged in good condition, for follow up at outpatient clinic.
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pmc-6280805-1
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A 55-year-old male patient (A) was admitted in the emergency department for facial palsy, diplopia, and ataxia. Past medical history was unremarkable. Ten days before, he developed jaundice, arthromyalgia, light-colored stools, and dark urine. Physical examination on admission was remarkable for cutaneous and scleral icterus, facial palsy, and cerebellar syndrome. Laboratory values are presented in Table . MRI revealed hyper intense signal in the postero-lateral part of the right pons. Cerebrospinal fluid (CSF) basic analyses were normal. After exclusion of other viral hepatitis causes, final diagnosis was acute hepatitis B (Table ), although no infection risk factor was identified. Neurological symptoms resolved spontaneously over 2 weeks, liver function tests normalized within 4 weeks, and serological follow-up indicated HBs seroconversion and undetectable HBV viral load (HBV-VL) by PCR in plasma. To assess the possible involvement of HBV in transient neurological disorders, HBsAg level (DiaSorin LIAISON® XL Murex HBsAg Quant) and HBV-VL (Abbott RealTime HBV-DNA) were measured in parallel in plasma and CSF. Surprisingly, both markers could be quantified in the CSF despite the absence of red blood cell, excluding significant blood contamination in CSF. The ratio of HBsAg to HBV-VL (HBsAg/HBV-VL) was 0.79 in blood, as compared to 0.0079 in CSF, which suggests different dynamics in both compartments (Table ).
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pmc-6280805-2
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An 88-year-old male patient (B) was admitted after a recent fall at home and cognitive disorders that developed over the last 2 years with progressive loss of autonomy associated with pruritus. He was diagnosed with chronic hepatitis B (Table ), despite no reported recent risk factor. Liver ultrasound examination was normal. Etiology of cognitive disorders remained undocumented despite comprehensive investigations, including brain MRI, and CSF analysis. As for case no. 1, direct markers of HBV replication were positive in CSF in the absence of significant contamination by blood, and HBsAg/HBV-VL ratio were 365 higher in CSF (0.0073), than in blood (0.00002). Eighteen months later, he is still alive, with no progression of baseline neurocognitive disorders.
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pmc-6280806-1
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Patient 1 was a 66-year-old man. He presented with an SD-OCT-confirmed VMT in the right eye in March 2013 (Fig. a). Secondary ophthalmological findings were diabetic maculopathy, proliferative diabetic retinopathy, as well as a macula pucker. The preoperative BCVA was 0.125, the adhesion diameter, 367 μm, and foveal thickness, 780 μm. The patient was observed for 7 months (223 days), before he was treated with 0.3 ml C3F8 gas. Three weeks after the intravitreal injection, no release of traction was observed, but he had decreased vision due to a macular edema. VMT released 10 weeks after the intervention, with the macular edema persisting. The foveal thickness was 571 μm after treatment and BCVA after resolution of traction was 0.1 (Fig. b). There was no further reduction of the diabetic macular edema, and therefore the patient received two injections of bevacizumab intravitreally 9 months after gas application.
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pmc-6280806-2
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The second patient was a 66-year-old man who presented in August 2013 with a VMT in the left eye diagnosed with SD-OCT (Fig. a). Additionally, he had an ERM on OCT. After 2 months (84 days) of watchful waiting the BCVA decreased to 0.25, foveal thickness was 580 μm, and the extent of adhesion was 803 μm. The patient underwent an intravitreal injection of 0.3 ml 100% C3F8 gas. One week after the procedure, there was no release of traction. At the 3‑week follow-up after the procedure, the patient complained of a black shadow. While BCVA increased to 0.4, no release of traction was seen and the foveal thickness increased to 816 μm (Fig. b). In the periphery at the 6 o’clock position there was a retinal tear with retinal detachment, which implied vitrectomy with gas. After resorption of the gas, the retina stayed attached with the same visual outcome.
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pmc-6280806-3
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Patient 3 was a 43-year-old woman who presented with metamorphopsia and decrease of central vision in her right eye in October 2013. Focal VMT was diagnosed on OCT with an adhesion diameter of 217 μm, a foveal thickness of 446 μm, and a BCVA of 0.63 (Fig. a). Six days later she received an intravitreal injection of 0.2 ml C3F8 gas. The vitreous released successfully 12 days after the injection with a postoperative foveal thickness of 200 μm and an improvement of BCVA to 0.8 (Fig. b).
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pmc-6280806-4
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The fourth patient, a 72-year-old man, saw a blind spot in the central vision in his left eye in October 2013, which was diagnosed on SD-OCT as a small MH (201 μm) with an adhesion expanse of 218 μm (Fig. a). Initially he had a BCVA of 0.1. One week later, 0.2 ml C3F8 gas was injected into the vitreous. After another 1 week, there were no more signs of tractional forces seen on OCT; however, the hole remained open and increased to 475 μm (Fig. b). Since the MH failed to close after 1.5 months, successful vitrectomy with gas was performed with an increase of BCVA to 0.2.
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pmc-6280806-5
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The fifth patient was a 50-year-old woman who presented with metamorphopsia in her left eye in September 2013. She was a myopic patient. On SD-OCT a VMT with an adhesion diameter of 397 μm and a macular cyst were diagnosed in the left eye with the right eye not showing any pathology (Fig. a). She had an initial BCVA of 1.0 and the foveal thickness was 335 μm. An intravitreal C3F8 gas injection with 0.3 ml was carried out 3 weeks after diagnosis. There was VMT release 173 days after injection with a foveal thickness of 205 μm and a consistent BCVA. There was no macula cyst detectable on SD-OCT after resolution (Fig. b).
In December 2014, when patient 5 was now aged 51, VMT with an adhesion diameter of 397 μm was diagnosed with SD-OCT in her right eye (Fig. a). At presentation, BCVA was 1.0 and foveal thickness was 351 μm. After 54 days of observation with a BCVA decrease on the right eye to 0.5, the patient received a 0.3-ml intravitreal C3F8 gas injection in her right eye. Three weeks later the vitreous body detached from the retina (Fig. b). After release, BCVA amounted to 1.0 again and foveal thickness was 204 μm.
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pmc-6280806-6
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Patient 6 was a 75-year-old woman who was diagnosed with VMT in her right eye with OCT in September 2015 (Fig. a). At first presentation, the BCVA was 0.5. Additionally, the right eye showed a macula pucker. Foveal thickness and adhesion diameter measured 603 μm and 69 μm, respectively. Because no spontaneous resolution occurred after 47 days, the surgeon performed an intravitreal 0.2 ml 100% C3F8 injection. After 5 weeks, a separation of the vitreous from the macula could be seen on OCT (Fig. b). The BCVA of the patient did not change, but foveal thickness decreased to 270 μm.
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pmc-6280987-1
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A 31-year-old male was diagnosed with B-ALL (92% blasts), characterized as Ph+ by cytogenetics (70% fluorescence in situ hybridization [FISH]-positive; ; “Methods” section in Supplementary materials). The patient was treated with a pediatric-inspired regimen (Dana Farber Cancer Institute 01-175) with the addition of dasatinib 140 mg/day. On day 29 of therapy induction, the patient was in complete remission. However, minimal residual disease (MRD) was detected via reverse transcription nested-PCR according to the standardized procedure established by van Dongen et al (“Methods” section in Supplementary materials and ), which shows a sensitivity level of 10−4 for BCR-ABL1 transcripts (). Molecular analysis of the patient’s white blood cells revealed the expression of P190BCR-ABL1 (“Methods” section in Supplementary materials and ), the most common isoform in Ph+ ALL. MRD was confirmed in a second evaluation 4 weeks later. As per the protocol, this finding triggered a proposal for an allogeneic transplant from a human leukocyte antigen (HLA)-matched sibling.
Bone marrow samples were further analyzed for mutations associated with TKI resistance so as to reduce BCR-ABL1 expression before the allogeneic bone marrow transplant. Mutational analysis via Sanger sequencing (“Methods” section in Supplementary materials) showed a point mutation in the ABL1 domain of the fusion transcript, c.1319A.G, which lies in the region that translates for the C-terminal lobe of the kinase domain, p.Tyr440Cys (). Despite this variation being present in 20% of the BCR-ABL1-expressing cells at follow-up (day 29; ), it had not been identified at diagnosis (day 1; ). These results indicate that this might be acquired resistance probably due to selective pressure on mutant clones upon dasatinib treatment. In fact, the in-frame mutation in leukemic cells is not present in ABL1 from non-leukemic cells, indicating a somatically acquired rather than a germline mutation. This was confirmed by the analysis of the genomic DNA of the patient’s epithelial cells ().
Following extensive bioinformatics and literature analyses (discussed in the “Discussion” section), and as an effort to achieve molecular remission, the TKI regimen was changed to bosutinib in post-induction therapy. After 7 weeks on bosutinib, BCR-ABL1 levels did decrease when compared to those on dasatinib (). Nevertheless, MRD was still present, and thus the patient proceeded to transplant. He died 7 months posttransplant from complications of acute graft vs host disease.
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pmc-6281444-1
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A 16-year-old male patient was brought by his parents to a genetics clinic with complaints of developmental delay and tremor. He was a full-term infant with an uneventful delivery. He started walking around 18 months of age, spoke his first words at the age of two. Other problems included nervousness, immature behaviors, lack of eye contact during conversations, and aggressive behavior. His mother reported that he began to have a tremor in the hands around three years of age. Diagnostic workup included magnetic resonance imaging (MRI) of the brain, urine organic and amino acids, lactate, pyruvate, and lead levels along with chromosomal and DNA analysis for fragile X which were all unremarkable. His family history was significant for mental retardation. Maternal grandmother had three mentally retarded brothers with tremors, two of whom died in their forties. The patient’s brother also seems to have a speech delay along with tremors since the age of three.
His tremors worsened gradually, and he started to have difficulties with fine motor control including difficulty with drinking out of a cup along with increased aggression and behavioral changes. His teachers reported that he was biting, kicking, spitting and getting into conflicts with other children. He was seen by a child psychiatrist at that time and was started on risperidone, valproic acid and Adderall (amphetamine and dextroamphetamine) which seemed to help with his behaviors.
On examination, he has high nasal bridge, slightly down-slanting palpebral fissures, long philtrum, and thin upper lip. On neurological exam, he has slightly increased deep tendon reflexes throughout. Babinski sign was positive on the right, but a normal plantar response was noted on the left side. Bilateral hand tremors were noted, both at rest and in action. He was walking slowly without much arm swing and had a slightly stooped forward posture. A full psychological evaluation was done which showed a Leiter scale IQ of 91. The Vineland adaptive behavior scale showed functioning at the 19-month level. On the childhood autism rating scale (CARS) he scored 31 to 32, consistent with mild autism. He was enrolled in a special education program and speech therapy.
Genetic testing was ordered in both the patient and his brother that was positive for a Rett syndrome methyl-CpG-binding protein 2 (MECP2) mutation, A140V in both the boys.
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pmc-6281446-1
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A 12-year-old Asian-Bangladeshi boy presented with the complaint of pain in both anterior knees for three months. The pain aggravated while participating not only in contact sports but also with rapid walking, running, and kneeling. The physical examination revealed focal, swollen, tender areas over both knees; x-rays also documented a radiopaque, fragmented mass over the tibial prominences (Figures -). An extended examination of the painful area under high-frequency (10 MHz) ultrasonogram with a linear probe (Chison ECO1, Jiangsu, China, 214142) unveiled a hyperechoic lesion surrounded with a hypoechoic lesion of unossified cartilage with a hypoechoic-thickened distal patellar tendon (Figures -). There was no joint swelling and history of fever, malaise, and weight loss, and the nocturnal rise in body temperature and preceding localized knee trauma were also insignificant. All the aforementioned information is enough for diagnosing Osgood-Schlatter disease (OSD) in the present study. The patient was treated with oral diclofenac preparation (50 mg two times per day for three weeks). He was also advised not to participate in contact sports and, eventually, the patient was found pain free at his three-month follow-up.
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pmc-6281447-1
|
A 63-year-old man presented to our institution in order to undergo elective cardiac catheterization following a positive stress test that was done because of recurrent episodes of atypical chest pain. The patient is previously known to have hypercholesterolemia only. He used to take no medications. He never smoked cigarettes or used illicit drugs, but admits moderate alcohol consumption. Baseline electrocardiogram (ECG) and two-dimensional (2D) echocardiography were within the normal range. Coronary angiography was then performed via the right radial artery using a 5F Judkins left 3.5 diagnostic catheter, which showed a tight lesion at the proximal left anterior descending (LAD) coronary artery (Figure ) that was pre-dilated with a 3.0x12 Mav2 RX balloon with a maximum inflation pressure of 12 atm. The following angiogram showed a proximal LAD type F dissection with complete blood flow obstruction (Figure ), with an extension of the flap to the LMCA and the left circumflex (LCx) artery (Figure ). Immediate angioplasty with stenting was performed successfully at the bifurcation of the distal LMCA with the LAD and the LCx (Figure ) using the V technique. A 3.5x15 Onyx drug-eluting stent (Medtronic, Minneapolis, US) inflated to 12 atm was used for the LMCA-LAD lesion, and a 3.0x12 Onyx drug-eluting stent (Medtronic, Minneapolis, US), again inflated to 12 atm, was used for the ostial LCx lesion.
The final angiogram showed a thrombolysis in the myocardial infarction (TIMI) III flow to both the LAD and LCx, but minimal haziness was noted around the ostium of the LAD, giving the impression of some blood clots in the area. The decision was taken to admit the patient to the coronary care unit (CCU) and treat him with intravenous eptifibatide to dissolve the LAD clot. The patient remained asymptomatic in the CCU without any chest pain, rising troponins, or changes in surface ECG. Four days later, the patient was taken back to the cardiac catheterization laboratory for a second look. An angiography revealed a distal LMCA intimal flap, extending into the proximal LAD (Figure ). Although it was a type-B dissection, the intimal flap was floating at the ostium of the LAD, causing intermittent obstruction of the blood flow, so an angioplasty with stenting was performed from the distal LMCA to the proximal LAD (Figure ) using a 3.5x15 Onyx drug-eluting stent inflated to 12 atm. This led to the restoration of normal blood flow (Figures -). The patient was discharged home two days later without any complication.
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pmc-6281540-1
|
A 79-year-old man who had been suffering from anemia for 7 weeks presented to another local hospital. Because a pancreatic head tumor was detected by computed tomography (CT), he was referred to our hospital for the further examination and treatment. Laboratory tests showed severe anemia with hemoglobin levels of 7.4 g/dl, and tumor markers were within normal ranges (CEA 3.9 ng/mL, CA19–9 24 U/mL). CT showed a microcystic lesion that was enhanced as a honeycomb-like-structure, 87 mm in size, in the pancreatic head. Vascular hyperplasia had developed around the cystic lesion and duodenum (Fig. a, b). The artery and vein of the abnormal vessel around the SCN were enhanced in the arterial phase (Fig. c). On magnetic resonance imaging, the microcystic lesion was hyperintense on T2-weighted imaging with the septum (Fig. a, b), so the lesion was diagnosed as microcystic-type SCN. Upper gastrointestinal endoscopy, capsule endoscope, and colonoscopy failed to detect the cause of anemia, so the patient was followed closely without treatment.
Three months later, the patient developed anemia (Hb 5.8 g/dl) again. Gastrointestinal endoscopy showed oozing from the mucosa in the duodenum via the swollen vascular hyperplasia (Fig. ). Duodenal hemorrhage caused by the abnormal vessels around the SCN was highly suspected as the culprit. Therefore, pancreatoduodenectomy was performed. First, the inferior pancreaticoduodenal artery and gastroduodenal artery were divided to control intraoperative bleeding from the abnormal vessels around the SCN. After removing the specimen, reconstruction was performed via the modified Child method. The operative time was 479 min, the intraoperative blood loss was 611 mL, and red blood cell transfusion was performed (560 mL). Postoperatively, the patient developed biochemical leak of pancreatic fistula (the International Study Group of Pancreatic Fistula), but this complication was successfully treated conservatively. The patient was discharged on postoperative day 22.
Macroscopically, the pancreatic head lesion was 90 mm in diameter, circumscribed, and well-demarcated from the surrounding pancreas, and had innumerable microcysts (Fig. a). Microscopically, the lesion was composed of cyst locules lined by epithelial cells with round central nuclei (Fig. b, c). The lesion was diagnosed as pancreatic SCN. Abnormal vessels had developed around the SCN and duodenum. In the pancreatic SCN and duodenal submucosa, the development of abnormal vessels, which demonstrate a variety of wall thicknesses, was observed. The elastic fibers of these abnormal vessels showed heterogenous thickness and stained positively for Elastica van Gieson staining. In addition, the structure of these abnormal vessels was different from that of the arteries and veins (Figs. b and a–d). The abnormal vessels were thus diagnosed as being AVM, and this was thought to most likely be the cause of the duodenal hemorrhage observed in this case.
The patient showed no recurrence of anemia or SCN in the 16 months after the operation.
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pmc-6281586-1
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An 11-year-old girl was referred to our hospital in August 2010 with a lesion in the right cheek area which was progressively enlarging. The patient complained that her nose and mouth corner were crooked and that her face was swelling. In clinical examination, the patient had a slight asymmetry in the right midface as a result of buccal and palatal cortical expansion from the right maxillary canine to the molar region, resulting in depression of the nasal alar and mouth corner (Fig. ).
A panoramic radiograph showed an increased bone density on the right maxilla and zygoma and obliteration of the right maxillary sinus. Computed tomography (CT) revealed a 4.5 × 4 × 4.5 cm, expansile ground-glass opacity lesion involving the right maxillary sinus, right maxillary alveolar process, zygoma, and hard palate. Bone scan revealed an irregularly shaped hot uptake in the right maxilla, and no abnormally increased uptake was observed at any other sites (Fig. ). The physical examination did not show any other lesions, and the patient had no history of pain, trauma, loosening of teeth, or trismus. Based on the typical radiologic findings, the patient was diagnosed with FD, and no additional biopsy was performed. The patient had regular follow-up every 6 months to monitor the lesion’s progress. At the 1-year follow-up, the development of tooth germ within the lesion was normal, and slight expansion of the lesion to the bucco-lingual side was observed. Because we thought the patient was still growing and increasing in height, we decided to conduct an ongoing progress observation.
About 3 years later in December 2012, there were no significant changes of the FD lesion, but the distance from the mouth corner to the inner canthus was about 2 cm longer on the right side than on the left. Periodic observation was continued, and in August 2017, corrective surgery was planned because the maturation of the lesion was confirmed to be complete and there were no changes in the size of the lesion. At that time, the distance from the mouth corner to the inner canthus was 2.5 cm longer on the right side than on the left, and the distance from the occlusal plane to the outer canthus was 5 cm longer on the right side than on the left. Bone contouring surgery, the primary treatment for facial asymmetry and fibrotic bone lesions, was planned (Fig. ).
The patient wanted to improve asymmetrical facial appearance through the surgery. Therefore, we aimed not only to remove the FD lesion, but also to make the patient’s facial as symmetrical as possible. For this, direct visualization and surgical approach to the infraorbital rim and lateral area of zygoma were required, but the surgical approach through buccogingival incision had limited access to these areas. On the other hand, the midfacial degloving approach was expected to help reestablishing symmetric facial contour by allowing direct comparison of the lesion with the normal side. Moreover, this approach provides esthetically acceptable outcomes, leaving no scars and no functional disability. Therefore, we decided to perform the operation through the midfacial degloving approach.
With the patient under orotracheal anesthesia, the lesion was removed by the midfacial degloving surgical procedure. Local anesthesia with 2% lidocaine with epinephrine (1:100,000) was infiltrated into the maxillary vestibular mucosa and into the nose. The procedure is performed with a maxillary vestibular incision and three intranasal incisions to expose the entire midface skeleton that include (1) bilateral intercartilaginous, (2) complete transfixion, and (3) bilateral piriform aperture incisions (Fig. ).
A buccogingival incision was made in the maxillary vestibule approximately 5 mm superior to the mucogingival junction and extended from the second molar to the contralateral second molar. Periosteal elevators were used to elevate the tissues in the subperiosteal plane fist over the anterior maxilla and then extending widely to encompass posterior tissues behind the zygomaticomaxillary buttress. The infraorbital neurovascular bundle was identified superiorly and dissected. Subperiosteal dissection along the piriform aperture stripped the attachments of the nasal labial muscularture to allow its complete release from the midface skeleton. The mucoperiosteal flap was elevated up to the piriform aperture.
The intercartilaginous incision divided the junction between the upper and lower lateral cartilages (Fig. b). An incision was made along the inferior border of the upper lateral cartilage, beginning at the lateral end and extending medially curved into the membranous septum anterior to meet transfixion incision (Fig. a). Laterally, the incision was sufficient that it extended to the piriform aperture. The lower lateral cartilage was eventually displaced superiorly during the degloving procedure, whereas the upper lateral cartilage remained attached to the midface skeleton. The transfixion incision was used to separate the membrane septum/columella from the cartilaginous septum. An incision was made along the caudal border of the septal cartilage from the medial end of the intercartilaginous incision toward the anterior spine (Fig. a). The intranasal incision was made by a full-thickness incision down through the periosteum of the piriform margin and the nasal floor.
Dissection through the intercarilaginous incision allowed access to the nasal dorsum and bones (Fig. b). Sharp subperichondrial dissection with a scalpel or a blunt dissection with scissors freed the soft tissues above the upper lateral cartilage as in a standard open rhinoplasty. The dissection should be within the subperichondrium plane to prevent injury to the overlying musculature and blood vessels of the nose. Elevation extended laterally to the nasomaxillary sutures and superiorly to the glabella. Retraction of the freed soft tissues allowed sharp incision to be made with a scalpel or with sharp periosteal elevators through the periosteum at the inferior edge of the nasal bones. Elevation of the soft tissue laterally to the piriform aperture was also performed so that the maxillary vestibular dissection was easily connected to this pocket.
After the connection of the nasal and oral incisions, the midface was degloved. The midface skin was separated from the maxilla and the nasal pyramid. The upper lip and the intact nasal columella, nasal tip, and alar cartilages were then retracted by two Penrose drains introduced through the nostrils over the nose to the level of the inferior orbital rim. This approach provided visualization of the medial maxillary wall, pterygoid junction, nasofrontal suture, infraorbital rim, and laterally to the temporal process of the zygoma (Fig. d). Under direct visualization, the overgrowing bone lesion was then excised using osteotomes and saws. The right maxilla was drilled further at the orbital rim and laterally till zygomatic complex. The contour of the midface was reestablished using burr to give a cosmetically normal looking midfacial skeletal contour while protecting the infraorbital nerve (Fig. ). For the removed lesion, a biopsy was performed for the accurate diagnosis and histologically confirmed as FD. The soft tissues were then carefully redraped and the nasal tip brought back into position. The intranasal incisions were closed using 4-0 resorbable sutures (vicryl), and the transfixion sutures were precisely performed to determine the final position of the nasal tip and prevent vestibular stenosis. The cinch suture of alar base was used to prevent postoperative alar base widening. The intraoral incisions were closed using a 3-0 black silk. Nasal packing into the maxillary dead space with Vaseline gauze was done for 3 days in order to minimize the postoperative bleedings.
The patient’s postoperative course was generally uneventful. There was moderate nasal crusting for 3–4 days. Mild swelling with periorbital ecchymosis disappeared after 2 weeks, and transient paresthesia around the infraorbital nerve spontaneously resolved after 3 month. No postoperative complications such as epistaxis, vestibular stenosis, or esthetic problems of the nose were seen. Clinical and radiographic examinations obtained 4 months after surgery showed the anatomical structures were in a stable state without recurrence of FD (Fig. ). The esthetic result was satisfactory for the patient, and occlusal state was also well maintained (Fig. ). Therefore, no additional orthodontic treatment or orthognathic surgery was performed.
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pmc-6281979-1
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A 79-year-old woman with an increasingly distended abdomen, fatigue and dyspnoea was referred to a secondary clinic in the Netherlands. During primary workup with CT-scan, an enlarged ovary and extensive ascites with omental cake were demonstrated. In addition, the serum marker CA-125 was elevated (808 kU/L). Based on histopathological results of an omental biopsy and prior aspiration of ascitic fluid the diagnosis of stage IIIC epithelial ovarian cancer was established. Unfortunately, the biopsy was complicated by a septic peritonitis with fever up to 39.8°C for which she was admitted to the intensive care unit and was treated accordingly. Differential diagnosis involved intra-abdominal contamination or bowel puncture/injury during the biopsy procedure. Although the patient recovered, her physical condition afterwards did not allow a surgical debulking procedure or neoadjuvant chemotherapy. She was discharged from the hospital with palliative comfort care.
Six months later, she was referred to our hospital for a second opinion as she was in a good physical and mental condition. During physical examination she did not show signs of lymphadenopathy, ascites or an abdominal mass. The serum marker CA-125 was normal (10 E/mL). An additional CT-scan demonstrated no pulmonary or pleural abnormalities and no signs of lymphadenopathy. Both the left ovary (42 × 24 mm) and the right ovary (23 × 11 mm) were slightly enlarged. There were no signs of free fluid, ascites, omental cake, peritonitis carcinomatosis, or other abnormalities.
An uncomplicated laparoscopic bilateral salpingo-oophorectomy was performed including peritoneal biopsies and a partial omentectomy along with free fluid collection from the pouch of Douglas. Intraoperative findings showed an enlarged left ovary, without further residual tumor deposits intra-abdominally. In concordance with the prior omental biopsy, a high-grade serous carcinoma was noted within the left ovary. There were no tumor deposits detected in the right ovary, the omentum or in any of the other biopsies. After counseling, the patient opted for expectant management and did not receive adjuvant systemic chemotherapy. To date, 42 months after diagnosis, she shows no signs of recurrent or progressive disease with a serum CA-125 at 11.0 E/mL.
We conclude that this patient represents a very rare case, and the only case described in literature, of spontaneous regression of a histologically confirmed stage IIIC ovarian carcinoma after a septic peritonitis. Since we were interested in the immunological mechanisms at play in our patient, we set out to study this further.
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pmc-6282074-1
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We report a 71-year-old Finnish male, diagnosed with early onset PD at the age of 40 years with no reported family history of Parkinson's. His symptomatic presentation included rigidity of the lower limbs that was initially more marked on the left-hand side, and he exhibited shortness of steps. He has continued to experience rigidity throughout his disease course, without the development of tremor. Recently, the patient has suffered from a mild gait disturbance with occasional freezing and postural instability. Overall, the progression of his illness has been exceptionally slow with a sustained response to medication that currently comprises: levodopa (300–400 mg d−1), pramipexole (2.1 mg d−1) and selegiline (10 mg d−1). On examination during the years 2016–2017, he was categorized at stage 2.5 of the modified Hoehn and Yahr Scale, with a United Parkinson's Disease Rating Scale (UPDRS) score of 41/199 (electronic supplementary material, table S1) Dopamine transporter (DaT) single-photon emission computerized tomography (SPECT) of the brain demonstrated reduced density of DA synaptic terminals in the caudate and putamen consistent with degenerative PD (a).
Targeted next-generation sequencing (NGS) revealed that the patient carried a novel homozygous c.194G > A variant in exon 3 of the PARK2 gene causing an amino acid change p.Ser65Asn (S65N) in the PARKIN protein (b). The variant is very rare: only two heterozygous carriers among 122 271 subjects were found in the Genome Aggregation Database (gnomAD) with an allelic frequency of 8.2 × 10−6. In the Exome Aggregation Consortium (ExAC) database, two heterozygotes were found among 60 691 subjects (allele frequency 1.6 × 10−5). Furthermore, the variant site is highly conserved in vertebrates (electronic supplementary material, figure S6a), and in silico analysis of the variant by the method of Combined Annotation Dependent Depletion (CADD) [] predicted that the mutation is deleterious with a CADD C-score of 25.5. We analysed coding variants in 82 selected PD-associated loci (electronic supplementary material, table S2) with a CADD C-score of greater than 20 and population carrier frequency less than 1%, but did not find any other likely pathogenic variant in S65N-M70.
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pmc-6282074-2
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A 60 year-old Caucasian female diagnosed with PD at the age of 54 was identified from the Parkinson's Progression Markers Initiative (PPMI). Her initial clinical features were bradykinesia and gait difficulty on the right side. She exhibited characteristic but mild motor symptoms for PD and no atypical features have been observed. Twelve months following her diagnosis, she was commenced on pramipexole resulting in a positive and sustained response (current dosing 2.25 mg of pramipexole/day). At her latest examination, the patient was categorized at Stage 2 of the Hoehn and Yahr Scale, and she has also been examined using the Unified Parkinson's Disease Rating Scale (MDS-UPDRS) for 5 years (scores from latest examination are provided in electronic supplementary material, table S1).
The patient has also been followed up by DaT imaging for four years, which has demonstrated reduced density of DA synaptic terminals in the caudate and putamen consistent with DA denervation (striatal binding ratio (SBR) calculations from the latest session are provided in electronic supplementary material, table S1).
Genetic analysis of the individual revealed a homozygous Parkin p.S65N mutation. Analysis of 82 PD-associated loci revealed three other gene variants (in POLG, MC1R and Glucocerebrosidase (GBA) (electronic supplementary material, table S3) that passed our filtering criteria (CADD C-score greater than 20, carrier frequency less than 1%). A heterozygous recessive variant (p.G268A) in POLG has been linked to autosomal recessive/sporadic progressive external ophthalmoplegia (PEO) in compound heterozygous or homozygous form [,], but also described as single-heterozygous in a child with a syndrome including Parkinsonism born from consanguineous parents (probable autosomal recessive mode of inheritance) []. She also carried another POLG variant, a rare inframe deletion (exon2:c.153_158del:p.Gln54_Gln55del) in a tandem repeat region of POLG; however, this is likely a benign variant, given a CADD C-score of 6.2. Overall, we did not consider the heterozygous p.G268A POLG mutation as disease-causing in the patient. A rare heterozygous variant (p.R142H) was detected in the MC1R gene. This gene was initially found to be associated with PD, but subsequent studies with large patient cohorts have not supported this finding [–]. Furthermore, the p.R142H variant has to date only been associated with red hair and not PD []. Thus, we did not consider p.R142H being a disease-causing variant in this patient. By contrast, a heterozygous p.N409S variant in GBA was detected, which is a recognized susceptibility factor for PD [] although the variant does not always lead to PD []. Therefore, we conclude that the PARKIN p.S65N mutation is likely to be the major disease-causing variant in the patient, although we cannot exclude that the GBA p.N409S variant may contribute to pre-disposition and/or the clinical phenotype of the patient.
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pmc-6282116-1
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Male, 48 years old, with a history of chronic hepatitis B, had been treated with entecavir for antiviral therapy for two years, which has been stopped without doctors' guidance for five months till now. Two weeks ago, the patient gradually suffered from fatigue, abdominal distension, yellow urine, and eye irritation and was diagnosed as liver dysfunction in the local hospital. For further diagnosis and treatment, the patient was admitted to our hospital on September 14, 2012. Liver function tests before hospitalization showed alanine aminotransferase (ALT) 1007 U/L, aspartate transaminase (AST) 864 U/L, total bilirubin (TBIL) 218.7 μmol/L, and direct bilirubin (DBIL) 171.7 μmol/L, while hepatitis B virus markers showed HBsAg+, HBeAg+, HBcAb+, and HBV-DNA 3.21 × 106 IU/L. According to the patient's conditions, he was given a variety of treatments, involving conventional liver protection, reducing enzyme activity, eliminating jaundice, and entecavir antiviral therapy. With the consent of the patient, he was treated with hepatic arterial infusion of the umbilical cord blood stem cells (UC-MSCs mononuclear cells 42.4 × 109/ml, flow cytometry CD34+ and CD33+ stem cells 8.9 × 106/ml with a total input volume of 40 ml). The relevant tests were performed regularly after the infusion, including ALT, ALB, TBIL, and PTA. The patient was discharged from our hospital with a better health condition on October 26, 2012, and went back to the local hospital for continual treatment. Currently, the follow-up status is good. The changes of the patient's indicators during treatment are shown in .
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pmc-6282116-2
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Male, 54 years old, had a history of daily drinking with the amount of 100–150 g per day for 30 years, been diagnosed as “alcoholic cirrhosis” in other hospital one year ago. The patient began to feel the abdominal distension, accompanied by fatigue, yellow urine, and jaundice, one month ago. On April 11, 2012, the patient started the treatment in our hospital. After admission, the tests revealed ALT 924.6 U/L, AST 817.3 U/L, TBIL 274.2 μmol/L, and DBIL 189.4 μmol/L. With the consent of the patient, he was treated with peripheral injection of the umbilical blood stem cells (UC-MSCs mononuclear cells 39.6 × 109/ml, flow cytometry CD34+ and CD33+ stem cells 10.1 × 106/ml with a total input volume of 40 ml). The relevant tests were performed regularly after the infusion, including ALT, ALB, TBIL, and PTA. At the same time, the patient was given supportive treatments such as stopping drinking, conventional liver protection, reducing transaminase, and eliminating jaundice as well as albumin treatment. The input of stem cells promotes the regeneration of liver cells and the recovery of various physiological functions. The changes of the patient's indicators during treatment can be seen in . The patient was discharged with a better health condition on May 21, 2012, and regular follow-up was conducted after discharge.
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pmc-6282116-3
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Male, 52 years old, had a history of hepatitis B for more than 10 years without regular treatments. The patient often drinks alcohol, and the average amount is around 250 g each time. The patient started to feel malaise and fatigue, abdominal distension on January 12, 2013, but the symptoms were largely ignored at that time. Five days ago, after drinking 250–300 g of alcohol, the patient suffered from significantly increased fatigue, together with poor appetite, yellow urine, and jaundice. The patient started the treatment in our hospital on January 19, 2013. Outpatient tests for liver function showed ALT 771 U/L, AST 608 U/L, TBIL 176.5 μmol/L, and DBIL 102.7 μmol/L, while hepatitis B virus markers showed HBsAg+, HBeAb+, HBcAb+, and HBV-DNA 1.86 × 106 IU/L. After admission, the patient received a series of treatments, including entecavir antihepatitis B virus therapy, liver protection, eliminating jaundice and reducing enzyme activity treatment, immune regulation, and complication prevention. The review of liver function on January 28, 2013, indicated ALT 465 U/L, AST 504 U/L, and TBIL 239.5 μmol/L, showing the rapid progression of disease. With the consent of the patient, he was treated with peripheral injection of the umbilical blood stem cells (UC-MSCs mononuclear cells 37.4 × 109/ml, flow cytometry CD34+ and CD33+ stem cells 8.9 × 106/ml with a total input volume of 40 ml). The relevant tests were performed regularly after the infusion, including ALT, ALB, TBIL, and PTA. The reexamination for liver function on February 7, 2013, showed ALT 307 U/L, AST 446 U/L, and TBIL 265.3 μmol/L, which indicated that the disease progression was significantly advanced. On February 12, the review of liver function revealed ALT 265 U/L, AST 372 U/L, and TBIL 308.1 μmol/L. With the progression of the patient's health condition, the follow-up treatment was conducted. The patient was given bilirubin adsorption treatment for 2 times, while the effect is still poor, and the family abandoned the treatment and discharged ().
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pmc-6282118-1
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94-year-old Caucasian male presented to his primary care provider with complaints of a “lump” in his scrotum with dysuria and incontinence. His past medical history included hypothyroidism, urinary retention with intermittent catheterization, and controlled atrial fibrillation. A pelvic ultrasound scan showed a perineal mass and he was urgently referred to the Emergency Room. Routine lab work including complete blood count, electrolytes, renal function, and international normalized ratio (INR) were unremarkable. His urine gram stain was negative.
A pelvic computerized tomography (CT) scan showed a 16 cm foreign body within the bladder perforating the ventral surface of the bulbar urethra and extending into the perineal soft tissues (). He was admitted to Medicine for anticoagulation reversal prior to cystoscopic removal of the specimen by Urology (). An indwelling suprapubic catheter was subsequently placed with a plan to continue catheter placement upon discharge.
He was referred to the psychiatry consult liaison service and evaluated pre- and postoperatively. There was no evidence of suicidality or a psychotic, mood, or delirious process. However his thought form was illogical and he denied knowledge of urethral placement of the object. Montreal Cognitive Assessment (MoCA) score was 15/30 [].
His daughter (caregiver and guardian) described him as a retired mechanic who liked to “fix things”, was “very private”, and did not disclose symptoms readily. Previous episodes of urethral foreign body insertions (usually straws) had occurred when he attempted to self-manage urinary symptoms leading to urinary tract infections and abscesses.
He was dependent on basic activities of daily living (ADL) such as showering and instrumental ADL such as driving and managing financial transactions and had been a victim of a financial exploitation on the Internet. He had no previous evaluations for cognitive impairment and has no known disinhibition or hypersexuality.
The preliminary diagnostic impression was that of a major neurocognitive disorder. We outlined recommendations for laboratory tests, safety evaluation, imaging, and neurology consultation. The occupational and physical therapist assessment recommended continuous supervision. A dementia workup including folate, vitamin B12, human immunodeficiency virus (HIV) and thyroid function were unremarkable. Head CT showed generalized cerebral volume loss, leukoaraiosis, and hippocampal sclerosis. Neuropsychological testing indicated impairment in memory and executive function domains. A Neurology consultation confirmed a diagnosis of major neurocognitive disorder of mixed aetiology.
We did not recommend psychotropics since there was no mood, psychotic or other behavioral concerns. Nonpharmacological measures are the first line approach in managing BPSD symptoms []. Increased supervision and the placement of a suprapubic catheter reassured him that he was emptying his bladder fully. Successful management of his urinary symptoms has led to no further recurrences of urethral polyembolokoilamania.
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pmc-6282132-1
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A 12-year-old female with SW-CAH presented to the pediatric endocrinology clinic for routine follow-up. She was diagnosed with SW-CAH in the newborn period after presenting with ambiguous genitalia and was treated with supraphysiologic hydrocortisone divided three times daily throughout her life (prepubertal dosing range 10-15 mg/m2/day, pubertal dosing range 15-25 mg/m2/day), as well as fludrocortisone (0.1 mg daily). She was monitored every 3-4 months with clinical examinations, growth parameters, and serum measurements of 17-hydroxyprogesterone (17-OHP), androstenedione, and testosterone (Esoterix Laboratory, Calabasas Hills, CA), which together guided her medication dosing. She had no evidence of glucocorticoid excess and her growth velocity was normal, without evidence of acceleration or suppression. She and her parents reported continued excellent compliance with her medication regimen.
At age 12 3/12 years, she reported 3 recent emergency department visits for persistent vomiting without diarrhea, abdominal pain, inability to tolerate oral steroids, and tachycardia. One of the episodes was accompanied by fever >39°C. There was no hypotension during any of these episodes, but heart rates were elevated ranging from 124 to 154 beats per minute. Sodium and potassium were normal: Na 137-140 meq/L (reference range, 133-143 meq/L) and K 3.6-4.1 meq/L (reference range 3.4-4.7 meq/L). Each episode was treated with normal saline boluses and intravenous stress dose steroids, and treatment led to immediate improvement in symptoms. She was discharged from the emergency department with recommendations for stress dose steroids by mouth. Over the prior 9 months, she had also unintentionally lost 2.6 kg and had an accelerated annualized growth velocity of 10.6 centimeters per year. BMI was 15.4 kg/m2 (Z-score -1.38). She denied any heat intolerance, jitteriness, palpitations, sweating, diarrhea, or vision complaints. While in clinic, her resting pulse was elevated at 136 beats per minute and blood pressure was normal. She was noted to have new symmetric thyromegaly without nodules. She had no lid lag or stare. She was in mid-puberty, with tanner 3 breasts. There was no family history of autoimmune disease or thyroid disease. Labs () showed a suppressed TSH, and an elevated free T4 and Total T3. Thyroid antibodies were consistent with Graves' disease, with a thyroid stimulating immunoglobulin (TSI) of 652% (reference range <140%). She had no prior thyroid studies for comparison. Adrenal androgens were markedly elevated with 17-OHP 11,600 ng/dl (reference range 11-155 ng/dl, target <1000 ng/dl in SW-CAH). At a clinic visit 15 weeks prior to this evaluation, her 17-OHP on the same dose of hydrocortisone (25 mg/m2/day) was improved at 639 ng/dl. She was initiated on methimazole 0.5 mg/kg/day. Her hydrocortisone dose was not changed and remained at 25 mg/m2/day. Four weeks later, repeat labs demonstrated normal free T4 with mildly suppressed TSH and normal total T3. 17-OHP was stable at 717 ng/dl (). She had no further vomiting episodes after initiation of methimazole, and her tachycardia resolved.
Three months after treatment began for Graves' disease, her TSH and free T4 were in the reference range, and methimazole was decreased to 0.3 mg/kg/day. Repeat 17-OHP was low at 33 ng/dl, indicating suppression on the unchanged hydrocortisone dose of 25 mg/m2/day. Her hydrocortisone dose was decreased to 21 mg/m2/day.
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