An 11-year-old female, with no history of menstruation, presented to our hospital with severe lower abdominal pain, of 5 days duration. She had no complaints of headache, fever, nausea, or shifting pain. Her medical history was significant for congenital anal atresia, rectovestibular fistula, congenital right thumb malformation, and scoliosis. She was a student with a formal education and had never sexual contact. Her mother denied any history of radioactive, toxic substance, or drugs exposures during her pregnancy. Excision to correct the congenital anal atresia and repair of the rectovestibular fistula were performed when the patient was 7 days old. Surgical correction was performed due to a right thumb malformation when she was 5 years old.
On physical examination, the patient was of small stature, with normal hearing, and normal mental status. Her breast development was consistent with Tanner stage II. Pelvic clinical examination revealed sparse pubic hair and a vaginal dimple, but a blind-ended vagina. On transanal examination, a 7 cm tender cystic mass was palpated anterior to the anus.
Transabdominal ultrasound and magnetic resonance imaging (MRI) revealed lower vaginal atresia with an enlarged upper vagina (70∗42∗32 mm) caused by hematocolpos. A bicornuate uterus was identified with a Y-shaped uterine cavity with hematometra (Fig. ). No pelvic mass or pelvic effusion was found. Skeletal abnormalities, renal defect and heart defect were also noted. Karyotype analysis was performed, and CA-125 and sex hormones were also evaluated. A plain film X-ray showed scoliosis with butterfly vertebra and hemivertebrae (Fig. ). A transabdominal ultrasound identified a normal left kidney and an absent right kidney. An ultrasonic cardiogram did not identify any heart defect. The karyotype analysis result was 46, XX. Sex hormones were within a normal range, and CA-125 was higher than the upper limit (130.9U/mL).
Transvaginal colpotomy and laparoscopic exploration, pelvic adhesiolysis and hysteroscopy were performed. Laparoscopy conformed a bicornuate uterus to a broad fundus and adhesions in the pouch of Douglas and uterosacral ligament (Fig. ). Fortunately, both ovaries and fallopian tubes were normal. Pelvic adhesiolysis was performed followed by colpotomy. We placed the left index into the anus as a guide and cut the obstructed vagina using an electric knife. Careful blunt dissection was conducted superiorly, taking precautions to avoid the urethra/bladder and rectum. Then, we used a wide-bore needle to puncture the hematocele. The incision was extended with a sharp knife. Once the upper vagina was reached and the hematocolpos drained, the incisional edges were approximated with interrupted sutures. Afterwards, a hysteroscopy was performed that identified a broad cavity with distinct bilateral oviduct openings. A soft mold was placed in the vagina and the labia were reapproximated using a discontinuous suture to secure the mold. The operation was smooth and uneventful with duration of 30 minutes. The amount of intraoperative blood loss was approximately 30 mL. On the third post-operative day, labial stitches were removed, and the soft mold was replaced by a firm mold.
The patient was instructed to dilate the vagina twice a day for 20 minutes, using a mold each time. Two months after surgery, pelvic examination showed an unobstructed vagina which was 10 cm long and 2 fingers wide, without adhesion or constriction.
Ethical approval was not required for this case report. Informed written consent was obtained from the patient for publication of this case report and accompanying images.


The patient was a 45-year-old female diagnosed with papillary thyroid carcinoma. We conducted a preoperative CT scan (IQon Spectral CT, Philips Healthcare, Best, the Netherland) and the patient underwent left thyroid lobectomy using a bilateral axillo-breast approach with the da Vinci Si system (Intuitive Surgical, Sunnyvale, CA, USA), on August 7, 2017. This study was approved by the Institutional Review Board of Seoul National University (approval number: H-1710-022-889).


A 55-year-old female was transferred to the First Affiliated Hospital of Xi’an Jiaotong University in June 2016 due to intermittent and laborious angina pectoris. Her medical history and physical examination provided unremarkable findings. The ECG at hospital admission revealed T-wave inversion in the V1–V3 leads and biphasic T-waves in the V4 lead (). The serum level of cardiac high-sensitivity troponin T was <0.003 ng/ml (normal value < 0.014 ng/ml), creatine kinase (CK) was 55 U/l (normal value <200 U/l) and CK-MB was 6 U/l (normal value <24 U/l). Coronary angiography (CAG) revealed 70–90% LAD stenosis (), which was resolved by percutaneous coronary intervention (PCI) using drug-eluting stents (specification: 2.75 × 28 mm or 3.5 × 18 mm; JW Medical Systems, Weihai, Shandong, China) (). An ECG obtained following PCI showed that the biphasic T-waves in the V4 lead disappeared (). The persistently inverted deep T-wave in the V1–V3 leads were observed and no clinical outcome occurred at the scheduled one-month follow-up visit after PCI ().


An 85-year-old female who presented with paroxysmal chest pain and dyspnoea was admitted to the First Affiliated Hospital of Xi’an Jiaotong University in June 2016. The ECG obtained on admission displayed asymmetrical T-wave inversion in leads V1–V3, I, and aVL, and depressed ST segments in leads V2–V5 (). The serum level of cardiac high-sensitivity troponin T was 0.02 ng/ml (normal value <0.014 ng/ml), CK was 364 U/l (normal value <200 U/l) and CK-MB was 61 U/l (normal value <24 U/l). The patient was diagnosed as acute coronary syndrome and received dual antiplatelet therapy as follows: initial immediate therapy, 100 mg aspirin (BAYER, Germany) and 150 mg clopidogrel (Sanofi, France); regularly followed by 100 mg aspirin, oral, daily, 75 mg clopidogrel, oral, daily, 20 mg atorvastatin (Pfizer, USA), oral, daily and 30 mg isosorbide mononitrate (AstraZeneca, UK), oral, daily. ECGs obtained after 4 h of dual antiplatelet therapy, and prior to PCI, revealed bradycardia and progressive pseudo-normalization from inversion to upright T waves in the right precordial leads (). Elevated levels of the myocardial enzymes CK at 454 U/l (normal value <200 U/l) and CK-MB at 59 U/l (normal value <24 U/l) were observed. CAG indicated approximately 50–60% stenosis of the mid–left anterior descending artery and 100% occlusion of the right coronary artery (RCA) (). Drug-eluting stents (specification, 3.0 × 38 mm Abbott Vascular XIENCE Xpedition LL and 2.5 × 18 mm Endeavor Resolute) were placed on the LAD artery lesion and on the RCA occlusion (). The ECG following PCI displayed persistent pseudo-normalization of T waves in the right precordial leads ().


A 30-year-old man presented to our emergency department with breathlessness following an overdose with alprazolam. He had been evaluated earlier at another hospital, where he was found to be hypotensive. Ischemic changes were noted on electrocardiography (ECG); he was cardioverted as he was found to be in atrial fibrillation. Following this, he was transferred to our hospital.
On initial evaluation in our emergency department, he had mild dyspnea, with a respiratory rate of 32/min and oxygen saturation of 88% on room air. His heart rate was regular at 105/min with a blood pressure of 86/52 mm Hg. Systemic examination was otherwise unremarkable. He was administered supplemental oxygen, commenced on an infusion of noradrenaline, and transferred to the intensive care unit. His ECG performed earlier at the referring hospital, showed atrial fibrillation with ST-segment elevation in leads II and III, and ST-segment depression in leads V3–V4 []. A chest radiograph revealed diffuse infiltrates confined to the right lung fields, suggestive of UPE []. On transthoracic echocardiography, he had significant hypokinesia of the basal, inferoseptal, and basal posterior walls with impaired systolic function. Mitral regurgitation (MR) of moderate degree was also observed, with an eccentrically directed regurgitant jet []. The creatine kinase level was 23.3 ng/ml (normal range: 0–4.3 ng/ml) and the troponin-I level, 5.66 ng/ml (normal range: 0–0.02 ng/ml). Acute coronary syndrome with acute MR was suspected, and a coronary angiogram was carried out. Normal flows were noted in the left main and circumflex arteries. The right coronary artery was dominant with no stenotic lesion; however, a slow-flow pattern was observed. Slow flow was also observed in the left anterior descending artery. The flow rates were estimated using the corrected thrombolysis in myocardial infarction frame count as described previously by Gibson et al.[]
Based on these findings, a diagnosis of the acute coronary syndrome with acute MR due to papillary muscle dysfunction was considered, and he was commenced on aspirin, clopidogrel, heparin infusion, ramipril, and frusemide. His breathlessness gradually improved and the infiltrates on the chest radiograph disappeared within a week. A repeat echocardiogram at this time showed improved left ventricular systolic function and the MR was no longer evident.


A 5-year-old girl was brought to the primary care center by her mother with complaints of left-sided nasal pain with epistaxis along with foul smelling brownish discharge for 1-day duration. The mother gives history of her child inserting a foreign object in the nose 1 day ago while she was playing outside the house with other children. On examination, the child had high-grade fever and foul smelling brownish fluid discharging from the left nostril. There was also swelling and redness noted over the left nostril extending to the left cheek. Anterior rhinoscopy examination revealed a round metallic looking object embedded in the anterior aspect of the left nasal cavity. An X-ray of the lateral view of the face was done which revealed a round looking foreign object embedded in the left nasal cavity []. The patient was then referred urgently to the Department of Otolaryngology, Hospital Universiti Sains Malaysia, for further management after the attempt of removal of the foreign body failed. On examination, there was swelling around the left alar region of the nose which was extending to the left cheek. The skin in that region appeared inflammed. The nose was examined using an endoscope, which revealed a button battery embedded in the cartilaginous portion of the nasal septum in the left nasal cavity. The mucoperichondrium of the septal cartilage appeared eroded. The child was admitted with a diagnosis of button battery in the left nostril with left facial cellulitis. The button battery was removed under general anesthesia. The mucosa of the septal cartilage was eroded and filled with crust. However, there was no perforation noted. A thorough irrigation of the internal nose was carried out using normal saline. The child was started with intravenous co-amoxiclav along with analgesia. The swelling of the nose and facial region subsided within 3 days. A repeated endoscopic examination of the nose showed that the affected part of the cartilaginous portion of the nasal septum had subsequently improved. She was then discharged home with oral co-amoxiclav. During her first follow-up 2 weeks later, a repeated nasal endoscopic examination was done which showed a well-healed nasal mucosa of the affected part of the septal cartilage.


A 48-year-old man with a 6-year history of stable localized plaque psoriasis at the extensor surfaces of knees and elbows, presented to our department for nail dystrophy evolving since 1 year. It involved all his fingernails, mainly his right fingernails and the second and fifth left fingernails. The affected nails showed nail dystrophy with different degrees of subungual hyperkeratosis, pachyonychia, longitudinal striations, trachyonychia, filiform hemorrhage, plate crumbling, leukonychia, and onycholysis with brachyonychia (Fig. a, b). Culture from an ungual sample showed no mycological growth. The histologic features of a nail bed biopsy were suggestive of nail psoriasis and discarded lichen, alopecia areata, or other ungual disease (Fig. ). His cutaneous plaques had been controlled with topical therapies and no systemic agent was used. The Nail Psoriasis Severity Index (NAPSI) was determined to be 56. No signs of psoriatic arthropathy were found. He had previously been prescribed high-potency topical corticosteroids under occlusion, without any efficacy. The patient’s discomfort was affecting his ability to work and his quality of life because of psychosocial impairments with a Dermatology Life Quality Index (DLQI) of 21.
We opted for an injection of methotrexate into the proximal nail fold. Laboratory investigations including complete blood counts, liver and renal function tests performed before and after treatment showed no abnormalities.
The patient was treated with an injection of methotrexate (0.1 ml of a 5 mg/2 ml solution) into the proximal nail fold of the most affected nails (the right hand fingernails and the second and fifth left hand fingernails) in the first session. After a metacarpal block, the needle is introduced obliquely in the center of the proximal nail fold and then passes through the matrix. A smaller volume of methotrexate is injected very slowly under the matrix: the bleaching of the region delimits the infiltrated territory and the infiltration is then completed with two dermal papules at the junction of the lateral folds and the proximal fold and one at the nail bed. This procedure was repeated once a month for 3 months with injection in all nails in the second and third session. A progressive improvement of the nail dystrophy was noted after the first session and became significant after the third session. His nail lesions resolved completely 3 months after, apart from filiform hemorrhage (Fig. c, d). No side effects were noted. No clinical relapse has been observed 1 year later.


A 53-year-old man visited our clinic for fatigue, irritability, and weight loss for 3.5 years and PTM for 1.5 years. Three and a half years before, he had felt weak and had excessive sweating, palpitations, and a weight loss of 10 kg. One month later, he saw a doctor at a local hospital. His thyroid function showed a decreased TSH level and an elevated free triiodothyronine (FT3) level. His serum thyrotropin receptor antibody (TRAb) level was more than 40 IU/L (reference interval for TRAb: 0-1.75 IU/L). He was diagnosed with hyperthyroidism and prescribed methimazole 15 mg once daily. However, the patient did not take the drug regularly. One and a half years ago, swollen red areas with a diameter of about 5 cm and clear boundaries and a slightly tougher texture - but without itching - were found above both ankles. He was diagnosed at the local hospital as having PTM and prescribed halometasone 1 g twice a day and oral tripterygium. One week later, the myxedema had improved. He continued treatment for 2 wk but after discontinuing the halometasone ointment, the myxedema relapsed and was accompanied by occasional acupuncture-like pain. Later, he gave up treatment for 16 mo until he came to our hospital.
The patient presented with eyelid edema, slight exophthalmos, and a diffusely enlarged thyroid gland (grade II-III). The bilateral pretibial and ankle skin was thickened with a hard texture, uneven surface, and non-pitting edema (Figure ).
The results of thyroid function showed a decreased TSH level (0.0014 mIU/L; reference interval: 0.35-4.94 mIU/L), an increased FT3 level (7.27 pmol/L; reference interval: 2.63-5.7 pmol/L), and a normal free thyroxine (FT4) level (13.46 pmol/L; reference interval: 9.01-19.05 pmol/L). The titers of thyroglobulin antibody (TgAb), thyroid peroxidase antibody (TPOAb), and TRAb were 1.73 IU/mL (reference interval: 0-4.11 IU/mL), 164.33 IU/mL (reference interval: 0-5.61 IU/mL) and > 40 IU/L (reference interval: 0-1.75 IU/L), respectively. A biopsy of the pretibial skin showed a large amount of deposited mucin-like substances between the collagen and the gaps among the collagenous fibers were widened. Moreover, hyperkeratosis of squamous epithelium and perivascular inflammatory cell infiltration were found (Figure ). All of these findings supported the diagnosis of PTM.
An X-ray scan indicated a periosteal reaction in the phalangeal bone of the index finger of the left hand (Figure ). Finally, the patient was diagnosed as GD, exophthalmos, PTM, and hypertrophic osteoarthropathy (EMO) syndrome.
A computed tomography scan of the eye socket showed that the bilateral extraocular muscles were slightly thickened and both eyeballs were slightly extruded (Figure ).
Intradermal injections of triamcinolone acetonide were used for PTM of the right lower extremity. The injections were once a week for 8 wk and then once a month for 2 mo. For each treatment, 2% lidocaine was used to dilute triamcinolone acetonide. The concentration of triamcinolone acetonide was 4 mg/mL. Ten injection points were used along the upper border of the skin lesions and 0.5 mL of diluted triamcinolone was injected at each point using a 1-mL syringe. A halometasone ointment was used once a day for PTM of the left lower extremity. After the first injection series, the range of the lesions of the right leg narrowed by about 1.5–2 cm; no significant change occurred on the left leg. After the second injection series, the scope and thickness of the swelling shrunk markedly in both legs. After the third injection series, the fringe skin of the lesions became soft and thin, similar to the normal skin. With treatment, the thickness of the lesions of both lower extremities was significantly reduced and eventually returned to the same thickness as that of normal skin. The color of the skin gradually lightened. Eight weeks after the injection therapy, scabs occurred around the border of the lesion on the right leg and then fell off on their own. The new skin showed a pink color, which was not obvious on the left leg. Five months later, the swelling of both lower extremities had disappeared and the thickness of the skin had returned to normal. However, little pigmentation was present. The total dose of triamcinolone acetonide used for the right leg was 200 mg. Complete remission of PTM was achieved in both lower extremities. No side effects from the glucocorticoid were found in this patient.
Ultrasound can be a good option for assessing PTM lesion thickness[]. The thickened skin of this patient before the specific treatment was 7.27 ± 1.20 mm (right) and 7.03 ± 0.92 mm (left) (Figure ). The thickened skin of the lesions after treatment was 1.96 ± 0.46 mm (right) and 1.80 ± 0.35 mm (left) (Figure ). We found that compared to before treatment, the thickness of the skin lesions was significantly different after 4 wk of treatment. Significant differences were also observed in the skin thickness in both legs between 4 wk and 8 wk after treatment (Figure ).
The patient had been prescribed methimazole 30 mg daily for hyperthyroidism at the beginning of the treatment for PTM. The changes in thyroid function are interesting (Figure ). During the first month of treatment, the levels of FT3, FT4, TPOAb, and TgAb were increased and TSH was decreased. Thereafter, FT3, FT4, TPOAb, and TgAb declined while TSH levels rose gradually. However, TRAb was always greater than 40 IU/L.
Seven months after the end of treatment, we followed the patient and found that pretibial skin of both legs was not swelling and lighter in color. No recurrence of PTM was observed.
Our experience with this patient has shown that multiple subcutaneous injections of a long-acting glucocorticoid and topical glucocorticoid ointment application had similar efficacy for skin lesions in PTM patients with diffuse swelling and a medical history of no more than 2 years. However, the application of a glucocorticosteroid ointment was more convenient, and the patient had no obvious discomfort. These made the patient have better compliance. The patient can apply the treatment at home according to the doctor’s advice and avoid frequent entry into the hospital. Therefore, the topical application of a glucocorticoid ointment is safe and effective, and is a convenient treatment for patients with PTM.


We report the case of a 52 year old woman with history of high blood pressure that was admitted in January 2013 for chronic cough, night sweats, progressive shortness of breath on exertion and weight loss worsening in the last 3 weeks.
Physical exam revealed rather good clinical condition but pale and sweated skin, diminished breath sounds on the left lower lung area and BP=150/80mmHg.
Sputum smears for acid fast bacilli were negative.
Chest X-ray evidenced an oval shaped opacity of 5/8cm, high density, situated in the left paracardiac area with anterior projection.
Laboratory exams were normal. IgG antibodies for Echinoccocus were negative.
CT scan of the thorax described the presence of encysted pleural effusion in the left cardiophrenic angle with a fluid layer of 5-8cm.
Ultrasound exam of the thorax revealed a pleuropericardial cyst tangent to the left chest wall. Ultrasound guided exploratory thoracentesis was performed evacuating 300ml “water spring” like fluid; lab exams revealed a transudate very scarce in cells.
Control chest X ray evidenced downsizing of the initial cyst.
Final diagnosis was: Left pleuropericardial cyst, hypertension grade II.
We recommended surgery because of the initial size of the cyst and because of possible complications but our patient refused.
Even if she did not have any symptoms she was reexamined after 6 months. Thorax computed tomography didn’t evidence the growth of the remaining cyst (Fig. ).
We consider her case is particular because the initial size and location of the CPP made possible the ultrasound guided exploratory thoracentesis. Prognosis was good, requiring further clinical and radiology monitoring.


A 78-year-old male presented with 3 days history of dull, intermittent chest pain associated with vomiting. He had no tachypnea, abdominal pain, hematemesis or melena. His past medical history included recent laparoscopic anterior resection and Hiatus hernia.
His hemodynamics was stable with no abnormal physical findings. Laboratory tests showed elevated white cell count. Biochemical studies, troponin levels and ECG were normal.
Computer tomography pulmonary angiogram (CTPA) done given recent surgery reported distal esophagus perforation with bibasal pleural effusion. No pulmonary embolism (Fig. ).
He was kept nil orally. Analgesia, antiemetics, IV proton pump inhibitor, and empirical IV antibiotics were commenced. Esophagastroscopy showed large hiatus hernia with reflux esophagitis. Middle-lower third esophagus appeared patchy, gangrenous from 27 cm to gastroesophageal-junction at 35 cm (Fig. ). Multiple biopsies for viral culture and microbiology showed chronically inflamed cell infiltrates consistent with mucosal ischemia. No viral inclusions are seen. At the end of procedure, a PEG with jejunal extension tube was inserted to commence feeds.
Interval gastroscopy in 2 weeks showed healing mucosal ischemia with slough from 27–30 cm (Fig. ). Clear fluids were commenced and gradually upgraded to normal diet. Follow-up CT showed no contrast extravasation within posterior mediastinum (Fig. ) and gastroscopy in 8 weeks showed healed esophagus.


An 82-year-old male presented with intermittent epigastric pain, nausea, anorexia and vomiting for 2 days. He last opened bowels or passed flatus 2 days ago. No History of shortness of breath, coffee-ground vomit or melena. His past history included ischemic heart disease and diverticular disease.
On assessment, he was hypertensive, normal heart rate and temperatures. Abdominal exam was unremarkable. Laboratory tests were all within normal range. CT Abdomen showed distal esophageal mural thickening suggestive of esophagitis in small hiatus hernia with bilateral pleural effusions (Fig. ).
He was commenced on high-dose PPI, IV Antibiotics and analgesia. Emergency gastroscopy showed middle third of esophagus consistent with esophagitis and circumferential ischemia/necrosis in distal esophagus 27–34 cm (Fig. ). Mucosal biopsies taken revealed ulcerated squamocolumnar mucosa with necrosis and inflammation. No CMV inclusions were identified.
Nasojejunostomy tube was inserted and feeds were commenced. Interval gastroscopy in 2weeks revealed superficial sloughing of esophagus from 27 to 34 cm consistent with partial thickness esophageal necrosis (Fig. ). Clear fluids were commenced and gradually upgraded to full diet over the course of 6 weeks. Follow-up gastroscopy at 9 weeks showed completely healed mucosa (Fig. ).


A 5-month-old intact male domestic shorthair (DSH) cat was evaluated by its veterinarian because of the sudden onset of lethargy and inability to stand. The cat lived outdoors on a rural farm in central Kansas, in a group of 12 cats. Two other cats on the premises were found dead the day prior to presentation. The cat was unvaccinated, and there was no known exposure to toxins or chemicals.
The cat was moribund and hypothermic upon presentation. Results of a complete blood count showed leukopenia (1070 leukocytes/µl; reference interval [RI] 5500–18,500 leukocytes/µl), with marked neutropenia (240 neutrophils/µl; RI 2500–14,000 neutrophils/µl) and lymphopenia (760 lymphocytes/µl; RI 1500–7000 lymphocytes/µl), mild anemia (hematocrit 21.6%; RI 24–45%) and marked thrombocytopenia (1000 platelets/µl; RI 300,000–800,000 platelets/µl). Serum biochemical analysis findings included high serum total bilirubin concentration (4.1 mg/dl; RI 0.1–0.6 mg/dl), high serum phosphorus concentration (14.3 mg/dl; RI 3.4–8.5 mg/dl), hypoglycemia (38 mg/dl; RI 70–150 mg/dl) and high blood urea nitrogen (BUN) concentration (95 mg/dl; RI 10–30 mg/dl). Feline immunodeficiency virus antibody, feline leukemia antigen and parvovirus antigen testing were negative. Hematology, chemistry and viral testing were performed at the primary care veterinary clinic using point-of-care analyzers and test kits; evaluation of a blood smear was not conducted.
Owing to the grave prognosis for survival, humane euthanasia was performed and the cat was submitted to the Kansas State University Veterinary Diagnostic Laboratory (KSU VDL) for gross necropsy. Gross examination revealed fair body condition and mild post-mortem autolysis. The gingiva, mucous membranes and internal fat stores were diffusely pale to light yellow. Episcleral vessel injection was present in both eyes. The lung lobes had multiple, 3–10 mm diameter parenchymal hemorrhages at the pleural and cut surfaces. The spleen and mesenteric lymph nodes were dark red and enlarged. There were no significant gross lesions in other areas of the body.
Histologic evaluation revealed similar abnormalities in all sampled areas. The pulmonary vessels and alveolar capillaries, mesenteric lymph node cortical and medullary vessels and sinuses, splenic red pulp vessels and sinuses, and the blood vessels and vascular spaces within the brain, liver, heart, pancreas, kidneys and gastrointestinal tract contained large macrophages laden with protozoal schizonts. Macrophages were noted to marginate along vascular endothelium or fill vessel lumens. Cells contained either multiple, irregularly round, developing schizonts with many large, vesiculate nuclei or mature schizonts with 1–3 µm round, lightly basophilic uninucleate merozoites.
Microscopic evaluation of the eyes demonstrated macrophages laden with schizonts diffusely distributed throughout the uveal tract and within retinal blood vessels (). The vitreous humor was expanded by moderate amounts of hemorrhage (). The ciliary body of the anterior uveal tract was the area most heavily infiltrated by schizont-laden macrophages (), but protozoal organisms were identified within macrophages in all areas of the uveal tract. The retina was pathologically detached and subretinal hemorrhage was present (). No other ocular lesions were noted.
Gross and microscopic findings were characteristic of cytauxzoonosis due to Cytauxzoon felis infection. Infection was additionally confirmed by identifying C felis schizonts within macrophages from splenic impression smears.


A 1-year-old male neutered DSH cat from south-western Missouri was evaluated by its veterinarian because of the sudden onset of lethargy and anorexia. Five other cats in the household were reported to have died of unknown causes over the prior 2 years. The vaccine history for this cat was not provided.
The cat was febrile upon presentation, with a body temperature of 40°C (104°F). Empirical treatment with oral antibiotics and anti-inflammatory medications was initiated, but no diagnostic testing was performed. After an initial period of improvement, the cat deteriorated and died naturally approximately 4 days after the onset of illness. The cat was submitted to KSU VDL for gross necropsy. Gross examination revealed fair body condition and moderate-to-severe post-mortem autolysis. The sclera and visceral adipose tissue were diffusely light yellow. The thoracic cavity and pericardial sac contained moderate amounts of serosanguineous fluid. Approximately 50% of the lung parenchyma had a mottled appearance with multifocal coalescing, irregular, pale and red areas ranging in size from 5–10 mm. The spleen was dark red and enlarged.
Histologic evaluation revealed similar abnormalities in all sampled areas. As reported in cat 1, blood vessels of affected tissues contained large macrophages laden with protozoal schizonts. Microscopic evaluation of the eyes revealed schizont-laden macrophages within the uveal tract and retinal blood vessels, with the ciliary body identified as the most heavily affected area. Vitreal hemorrhage, subretinal hemorrhage and retinal detachment were again noted. Based on these findings, cytauxzoonosis was confirmed as the cause of death.


A 1.5-year-old female spayed DSH cat from north-eastern Kansas was submitted to KSU VDL for gross necropsy after sudden death. The cat lived outdoors, and was the sixth cat on the property to die within the previous year. The owner-reported clinical signs included rapid development of anorexia and hindlimb paresis, followed by death within 1–2 days. The cat had been vaccinated for rabies within the previous year, but no other vaccine history was provided.
Gross examination revealed good body condition and mild post-mortem autolysis. The mucous membranes and nictitating membrane conjunctiva were diffusely pale and yellow. The thoracic cavity contained a mild amount of serosanguineous fluid. The lungs were firm and did not collapse upon opening the thorax, and all lung lobes contained multifocal petechial hemorrhages. The spleen was diffusely black.
As reported in cats 1 and 2, histologic evaluation revealed similar abnormalities in all sampled areas, with affected tissues containing large macrophages laden with protozoal schizonts. Microscopic evaluation of the eyes revealed schizont-laden macrophages within the uveal tract and retinal blood vessels, most prominently within the ciliary body. Vitreal hemorrhage, as well as subretinal hemorrhage and retinal detachment, were again identified. Cytauxzoonosis was confirmed as the cause of death.


A 35-year-old woman, gravida 2, previous cesarean delivery, due to preterm premature rupture of membranes (PPROM), drained liquor at 30 weeks’ gestation and breech presentation. She was admitted for elective CS at 38+3d weeks’ gestation because of recurrent breech presentation after uneventful regular antenatal care.
Her second pregnancy was achieved spontaneously within the first 6 months from the first CS. Her reports during the antenatal follow up showed appropriate fetal growth matching to the gestational age calculated from the first day of the last menstrual.
During the second elective CS, the site of the previous CS scar was seen to be very thin along its whole length and the anterior uterine wall was completely deficient, leaving visible bulging fetal membranes and moving baby underneath []. We decided to deliver the baby through vertical uterine incision for the patient's safety and to avoid lateral extensions and injuries of the uterine vessels and the bladder if transverse uterine incision is used to deliver the baby.[]
A healthy living baby boy was delivered, weighing 3.220 kg with Apgar scores 8 and 9 at first and fifth minutes after delivery, respectively. The uterine incision was repaired in two layers using vicryl 0 interrupted simple stitches for the first layer, followed by interrupted mattress stitches for the second layer. The interrupted sutures allowed repair and approximation of the two edges of the uterine incision without any tension or traction on the edges of the incision, compared with continuous stitches which may precipitate further tear of the already deficient anterior uterine wall. The closure of the uterine incision was followed by the closure of the anterior abdominal wall in layers. The studied woman had uneventful postoperative recovery and was discharged from the hospital in good general condition after counseling regarding her intraoperative findings, vertical uterine incision, and future pregnancies.


A 32-year-old woman, gravida 4, previous three CSs, was admitted as unbooked case without any antenatal records in our hospital, at 29+4d weeks’ gestation, triplet pregnancy after ovulation induction by clomiphene citrate (Clomid) with preterm labor pain (PTL).[] The PTL was diagnosed by regular uterine contractions lasting at least 30 s and occurring at least four times per 30 min with significant cervical changes on digital examination (cervical dilatation <3 cm, cervical effacement ≤50%).[]
She received betamethasone and magnesium sulfate (MgSO4) for fetal lung and fetal brain protection, respectively, according to the hospital protocol,[] followed by emergency CS after counseling, cross matching, basic preoperative investigations, and neonatology consultation. During the CS, the previous CSs’ scars were dehiscent over more than half of its length and the anterior uterine wall was missing leaving visible fetal membranes [].
The bladder flap was dissected downward away from the lower uterine segment as much as possible to avoid urinary bladder injury if the uterine incisions extended downward. The dissection of the urinary bladder flap was followed by inserting one transverse untied vicryl stitch over the anterior wall of the lower uterine segment below the dehiscent previous scars [for identification of the lower flap of our uterine incision (I. Abdelazim's stitch)]. A transverse uterine incision was done through the dehiscent uterine scars, followed by delivery of three girls admitted to the neonatal intensive care unit: 1.235 kg Apgar scores 6 and 7 at first and fifth minutes after birth, respectively; 1.150 kg Apgar scores 7 and 8 at first and fifth minutes after birth, respectively; and 1.045 kg Apgar scores 5 and 6 at first and fifth minutes after birth, respectively.
After the delivery of three girls, the upper and the lower uterine flaps of our transverse uterine incision were identified by the previous described untied vicryl stitch (I. Abdelazim's stitch). After identification of the two uterine flaps (upper and lower) of our transverse uterine incision, the untied vicryl stitches (I. Abdelazim's stitch) inserted below the dehiscent previous scars were removed and repair of our transverse incision was started. The uterine incision was repaired as described before in two layers using vicryl 0 interrupted simple stitches for the first layer and interrupted mattress stitches for the second layer, followed by closure of the anterior abdominal wall in layers. The studied woman had uneventful postoperative recovery and was discharged from the hospital after counseling regarding her intraoperative findings, uterine incision, and future pregnancies.


A 33-year-old male patient was admitted to the hospital with abdominal distension, abdominal pain and altered bowl habits, and stool frequency of every 2–3 days. Digital rectal examination revealed a mass 7 cm from the anus, presumed to be the lower edge of a protuberant lesion, the upper edge of which could not be palpated; the rectal mucosa revealed multiple polyps on palpation of ~0.8 cm. There was a family history of FAP and colon cancer in first-degree relatives (but total proctocolectomy had been performed). Colonoscopy revealed several rectal and colorectal polyps, as well as ~60 cm of colon protuberant lesions (). The pathological manifestations of colon and rectum tumor were adenocarcinoma. The colonic tumor was located in the hepatic flexure of the colon, of a hard protruding type, and a rectal tumor was located in the middle part of the rectum, of a hard protruding type. The remainder of the colon and rectum were covered with polyps (0.2–1.5 cm in diameter) (). Pathology revealed a large number of tubular villous adenomas between the differentiated adenocarcinoma of the colon and the middle-differentiated adenocarcinoma of the rectum. Lymph node metastases around the mesentery were seen in four cases (4/27) (). TNM classification of the hepatic flexure of the colon tumor showed pT4aN2M0, IIIC and the rectum tumor showed pT4bN0M0, IIB.
We performed KRAS/NRAS/BRAF joint genetic detection on two malignant lesions; the KRAS exon 2 of hepatic flexure of colon malignant lesions was a mutant and the remainder were wild type (); the malignant rectal lesions were wild type (). Peripheral blood gene detection showed APC, AXIN2, EPCAM, MLH1, MLH3, MSH2, MSH2, MSH6, MUTYH, PMS1, PTEN, SMAD4, BMPR1A and TP53 genes. Only exon 12 in the APC gene had a deletion mutation (). At present, this mutation had not been recorded in the COSMIC database, and functional studies of amino acid number 480 are unknown (). However, a frameshift deletion may lead to the non-expression of the major functional regions and may influence the gene function of APC. The frequency of de novo mutations in the region near c.1439delA is very high. In addition, we found that a deletion site NM_000038.5(APC): c.(1409-?)_(1743+?)del Simple (variant ID217926) near the region was pathogenic in the ClinVar database. Therefore, in this analysis, the mutation detected was likely a pathogenic mutation.
The patient was cleared on preoperative examination without contraindications. Total colorectal resection was performed with laparoscopic assistance. After surgery, the patient’s clinical symptoms were relieved and the surgery was well tolerated. But there was no accident. He eventually recovered and was transferred from the hospital. So far, he has lived for 8 months.


A 29-year-old male, with CF heterozygous DF508 mutation, underwent a bilateral lung transplant in March 2013 after 8 months of oxygen dependency secondary to poor lung function. Approximately 1 year posttransplant, he and his wife decided that they wanted to start a family and consulted a fertility specialist who advised them to utilize donor sperm due to the teratogenic effects of posttransplant medications. Taken by surprise with this news, he stated: “[Having to use donor sperm] was bigger than them [fertility specialists] saying, ‘You can’t have kids.’” They expressed regret about the missed opportunity for pretransplant sperm aspiration and cryopreservation in order to conceive a biological child because of the lack of education provided by their CF care team. Although they understood that the CF care team’s main focus was on the pulmonary system to save his life, they also mourned the loss of their reproductive capability. He and his wife now want to be advocates for others who are contemplating transplantation and are in their childbearing years.


A 62-year-old woman with a medical history of hypertension, irritable bowel syndrome (IBS), spinal stenosis and osteoporosis presented to the gastroenterology clinic with a 1-year history of diarrhoea. Her medications included olmesartan, calcium and vitamin D. She reported six to seven daily episodes of watery stool without mucus or blood. The patient was treated for possible IBS-diarrhoea flare with low fermentable oligosaccharides, disaccharides, monosaccharides and polyols diet, loperamide, eluxadoline and rifaximin, all of which have failed to control her diarrhoea.


On October 26, 2017, a 38-year-old man visited the Nanjing Jiangbei People’s Hospital presenting with anterior abdominal wall nodule for 1 month. Physical examination showed that the nodule had a hard texture, unclear boundary, and a low degree of mobility. The laboratory assessment results were normal. Abdominal computed tomography (CT) showed a soft tissue nodule measuring 1.3×1.5 cm in the subcutaneous layer of the right abdominal wall and a cystic density mass measuring 9.9×8.7 cm in the peritoneal cavity (). On November 2, 2017, the patient received laparoscopic tumor resection + anterior abdominal wall nodule resection at the Jiangsu Cancer Hospital. All neoplasms were resected and sent for pathological evaluation. The pathologic findings were supportive for the diagnosis of IADSRCT (). Immunohistochemistry findings showed that the tumor cells were positive for AE1/AE3, desmin, NSE, Ck7, CD34, CD99 and partially positive for CD56, GATA3, Syn (). The tumor stained negatively with P63, CK5/6, P40, S100, CD31, Ki-67 and the proliferation index was 40%.
Postoperatively, from December 2017 to April 2018, the patient received six cycles of chemotherapy (ifosfamide 3.6×5 days, liposomal doxorubicin 60 mg×1 day) as adjuvant therapy. On May 20, 2018, the patient’s CT scan revealed metastasis in the right inguinal lymph node and omental lymph node. The size of the enlarged lymph nodes was 29.3×19.8 mm and 9.5×8.6 mm, respectively (). On June 1, 2018, anlotinib was administered at a dose of 12 mg, once daily, 2-weeks on/1-week off. The size of the right inguinal lymph node and omental lymph node were reduced to 17.8×14.9 mm and 8.9×7.9 mm, respectively after two cycles of treatment (). The efficacy was evaluated as stable disease (SD). After four cycles of anlotinib treatment, the size of lymph nodes was further reduced. A CT scan revealed SD. The patient continued to use anlotinib as maintenance therapy. Until now, anlotinib was continued for an additional cycle, the side effects of anlotinib were high triglyceride and fatigue. However, its toxicity was controllable and tolerable.


A 38-year-old man had a 4-month history of numbness in both hands. The numbness was triggered by riding a motorcycle. Examination showed no wasting of both thenar eminences. A Phalen's maneuver elicited tingling in the right middle finger after 30 s. Tinel's sign could not be induced on percussion of the median nerves at the wrist. Neither weakness nor sensory loss was found. Electrodiagnostic examination was performed, and there is neurophysiologic evidence of moderate median nerve dysfunction at both wrists. Ultrasound imaging was done at both wrists for guiding steroid injection. shows left and right median nerves at the wrist. What is your diagnosis?


A 38-year-old female presented with acute onset of spontaneous CSF rhinorrhoea, which started a month ago. The patient disregarded the symptom and related it to rhinosinusitis. However, she again had episodes of intermittent nasal discharge on left side. She denied history of headache, vomiting, blurring, visual disturbance, or head injury. The ophthalmoscopic examination revealed papilledema [] with normal visual acuity and field charting. The laboratory analysis of nasal discharge tested positive for beta-2 transferrin. The magnetic resonance imaging (MRI) cisternography was requested to demonstrate site of leakage. The patient was advised to get MRI on the day of active nasal discharge. The MRI was acquired in prone position with a dry cotton pledget placed in the left nasal opening. A tiny focus of CSF leakage was identified in the left cribriform plate [; zoomed up ], which was seen continuing posteroinferiorly into the nasal cavity []. The dry cotton pledget got soaked with CSF and appeared hyperintense on T2 weighted images []. In addition, MRI demonstrated perioptic CSF distension [], vertical tortuosity of the optic nerves [Figure and ], empty sella [], and very prominent CSF distended bilateral Meckel's cave []. No intracranial mass was noted. Moreover, MR venography showed bilateral distal transverse sinus stenosis []. Imaging diagnosis of IIH was suggested.
Lumbar puncture was performed 2 weeks later at the time of absence of CSF rhinorrhoea, which demonstrated increased opening pressure of 30 cm of H2O (normal 10–18 cm of H2O) with normal CSF composition on laboratory analysis. This confirmed imaging diagnosis of IIH. The patient was offered computerized tomography (CT) scan, which she denied. The patient was treated medically and was offered endoscopic surgical repair. Eventually, patient was lost to follow-up.


A 55-year-old female presented with sudden onset of copious spontaneous CSF rhinorrhoea, which started 3 weeks ago noted on the right side. She denied history of headache, vomiting, blurring, visual disturbance, or head injury. The ophthalmoscopic examination revealed normal fundus exam, visual acuity, and field charting. The laboratory analysis of nasal discharge tested positive for CSF. The MRI cisternography was requested. The MRI was acquired in prone position. A moderate sized focus of CSF leakage was identified in the right cribriform plate [], which was seen continuing posteroinferiorly into moderate amount of CSF in the right ethmoid air cells []. The MRI also demonstrated a ballooned empty sella [], perioptic CSF distension [], and vertical tortuosity of the optic nerves [Figure –]. No intracranial mass was noted. Imaging diagnosis of IIH was suggested. CT scan showed a corresponding defect in the right cribriform plate []. The patient was referred for endoscopic/neurosurgical surgical repair. Surgery confirmed the site of leakage noted on MRI/CT and was repaired with fascia lata patch.


A 60-year-old male never-smoker presented to our hospital with back pain. Chest radiography revealed a mass lesion in the left lower lobe of the lung with left pleural effusion (Fig. ). Computed tomography of the chest/abdomen showed mediastinal lymph node swelling, pulmonary lymphangitic carcinomatosis, and right adrenal metastasis (Fig. ). Magnetic resonance imaging (MRI) revealed multiple, small, diffuse asymptomatic metastases of the brain (Fig. ), and bone scintigraphy showed multiple bone metastases. Transbronchial biopsy and cytological examination of the pleural effusion indicated adenocarcinoma of the lung, and he was finally diagnosed with adenocarcinoma of the lung (clinical stage IV, T4N2M1b) in May 2013.
Although chemotherapy with docetaxel and cisplatin was administered, the disease progressed. As a biopsy specimen revealed EML4-ALK rearrangement on both fluorescence in situ hybridization and immunohistochemistry during the first-line chemotherapy, he was administered crizotinib (250 mg twice daily) in July 2013. However, it was discontinued for a short time owing to grade 3 acute hepatic dysfunction and was later restarted at a dose of 200 mg twice daily. Two months after the initiation of crizotinib, the adrenal and brain metastases as well as the pulmonary mass, lymphangitic carcinomatosis, and pleural effusion regressed markedly.
Three months after regression, he complained of severe headache. MRI of the brain revealed progression of brain metastases (Fig. ), and cerebrospinal fluid (CSF) cytology from a lumbar puncture was positive for malignant cells. Isolated central nervous system failure was observed without progression at extracranial sites. He received WBRT (30 Gy) and continued to receive crizotinib, but the dose was increased to 250 mg twice daily after the initiation of WBRT. Three weeks later, the metastatic brain tumors regressed (Fig. ), and CSF cytology was negative for malignant cells (Fig. ). His severe headache was well controlled, and, therefore, he was followed up at the outpatient clinic.
His plasma and CSF were examined thrice at 1-week intervals to evaluate the effect of crizotinib combined with WBRT. Plasma was collected at around 5 h after crizotinib administration, according to a previous report []. The concentration of crizotinib was measured using a validated high-performance liquid chromatography with tandem mass spectrometry []. The crizotinib concentrations in the plasma and CSF were measured at 4 time points (1 before and 3 after the initiation of WBRT at 1-week intervals). The plasma concentrations of crizotinib were 136.6 ng/mL (0.31 μmol/L) before WBRT, and 133.4 ng/mL (0.30 μmol/L), 176.7 ng/mL (0.40 μmol/L), and 286.1 ng/mL (0.64 μmol/L) after the initiation of WBRT. Additionally, the CSF concentrations of crizotinib were lower than the quantification limit before WBRT and at 1 time point after the initiation of WBRT and were 6.2 ng/mL (0.014 μmol/L) and 6.3 ng/mL (0.014 μmol/L) at the remaining 2 time points, with a CSF-to-plasma ratio of 0.035 and 0.022 at the last 2 time points (Table ).
Isolated CNS failure was noted 6 months later. Although he received intrathecal methotrexate and cytarabine, followed by intravenous pemetrexed, the disease continued to progress, and 4 months after the second CNS failure, he died.


A 57-year-old male was admitted to our hospital with chest pain followed by loss of consciousness. It was stated that loss of consciousness was not related to the patient’s position, and according to the eyewitness’ statement, the patient’s eyes were open at that time. Episodes lasted for approximately 2–3 min. During the episode, fecal and urinary incontinence, tongue-biting, and tonic–clonic seizures were not observed. The medical history revealed that the patient was taking 5 mg amlodipine and 50 mg metoprolol succinate due to hypertension; there was no history of alcohol or cigarette consumption. The patient was then hospitalized and admitted to the cardiology department. Sinus bradycardia (45/min) was detected on electrocardiogram (ECG) at admission, and the patient’s blood pressure was 165/63 mmHg. Then, beta blocker treatment was stopped. There were also no electrolyte disturbances on admission. No other pathology except sinus bradycardia was detected during 24-h ambulatory rhythm monitoring. On the third day of hospitalization, ST segment elevation at DII-DIII as well as aVF derivations and complete atrioventricular (AV) block were detected on ECG (). Emergency coronary angiography was performed, and diffuse spasm was detected at the left anterior descending, circumflex, and right coronary arteries (). After intracoronary administration of 300 mcg nitrate, vasospasm disappeared and ST elevation and AV block regressed (Figs. , ). Because the patient had bradycardia, diffuse spasm, and life-threatening ventricular arrhythmia during ischemic episodes, dual implantable cardioverter-defibrillator (ICD) was implanted. Then, 50 mg isosorbid 5-mononitrate and 90 mg diltiazem 2×1 po treatment was initiated. Episodes of syncope continued, and ventricular fibrillation reoccurred during an ischemic episode because of vasospasm. During follow-up, the diltiazem dose was increased up to 480 mg, and episodes were taken under control. In the sixth-month follow-up, the patient had no complaints of angina and syncope and his vasospastic episodes were under control with treatment.


We report a 60-year-old, CMV seropositive female patient with acute myeloid leukemia (AML). Cytogenetics revealed trisomy 8 in 3 out of 10 metaphases. Verification of mutations in ASXL1, EZH2 and NPM1 led to high risk classification according to European LeukemiaNet ELN guidelines. Administering induction and consolidation chemotherapy (cytarabine 1.000 mg/m2, bid, on day 1, 3, 5 and 7, idarubicin 12 mg/m2, qd, on days 1–3) resulted in achieving complete remission. After conditioning therapy with treosulfan (day -6 to -4 at doses of 14 g/m2, qd), fludarabine (day -6 to -2 at doses of 30 mg/m2, qd) and anti-thymocyte globulin (Grafalon®; neovii Biotech, days -4 to -2 at a dose of 20 mg/kg body weight (bwt)) the patient received 6.06 × 106 CD34+ peripheral blood stem cells/kg bwt from a 24-year-old, unrelated, male, human leukocyte antigen allele mismatched 9/10, EBV seropositive, CMV seronegative donor. Prophylaxis of Graft-versus-host disease (GvHD) consisted of cyclosporine (CsA), starting on day -1, combined with methotrexate (MTX). CsA was maintained at therapeutic plasma levels. Acyclovir was administered as antiviral prophylaxis.
Loads of CMV were routinely monitored once a week by PCR technique using whole-blood (for detailed information about viral copy numbers see ). CMV reactivation with 7 × 104 copies/ml was detected on day +43. Despite a change in antiviral medication to GCV at a dosage of 5 mg/kg bwt, bid, viral load kept on increasing up to 4.8 × 105 copies/ml after ten days of initiation of treatment. The viral load finally decreased underuse of FOS at a dosage of 90 mg/kg bwt bid and early but slow reduction of immunosuppressive therapy. Additionally, we administered 1 ml/kg bwt CMV Immunoglobulins (Cytotect® CP Biotest) on day +48. The CMV-treatment schedule is given in .
Due to delayed engraftment, several bone marrow aspirates were obtained, revealing increasing chimerism from 89% on day +30, 94% on day +54 up to 100% since day +82. As a result of minimal residual disease (MRD) of AML, we quickly reduced CsA. This resulted in decreasing leukemia associated molecular markers. However, CMV copy numbers raised from 1.5–3.5 × 103 copies/ml up to 3.9 × 105 copies/ml (please refer to , day 88 et seq.) and EBV reactivation (up to 0.83–1.65 × 105) despite sustained administration of FOS. Except for nephrotoxicity, no clinical side effects of FOS occurred. EBV reactivation was effectively treated with the monoclonal CD20 antibody rituximab throughout four weeks, at a dosage of 375 mg/m2 per week ().
At the same time, CMV copy number increased despite the continuation of treatment with FOS. Therefore, we attempted to exclude the existence of viral mutations by DNA sequencing following nested PCR amplification. With modifications, amplification and sequencing of UL56 were performed as described previously. The method allows identification of the UL56 coding region from amino acids 1 to 620. Albeit clinically expected, verifying the viral kinase UL97 and the viral polymerase UL54 as wild-type, no mutation conveying resistance was demonstrable. A retrospective analysis revealed no mutation in the viral terminase region UL56, too. As a consequence, administration of CsA was terminated at day +118.
Based on delayed engraftment, drug-associated myelotoxicity and nephrotoxicity, and prolonged hospitalization, we initiated LMV at a dose of 480 mg qd. The patient was discharged from stationary treatment, and LMV resulted in an increase first, and within a treatment period of five weeks in an impressive decrease of CMV copy numbers (from 90.000 at LMV initiation up to 1.000.000 to 8.200 per milliliter) as already reported for other cases. Due to the occurrence of herpes stomatitis, acyclovir was administered, adapted to renal function. Simultaneously, the patient developed a maculopapular rash on day +155 affecting the lower arms and the abdominal skin. Subsequently, a skin biopsy was performed, and suspected acute GvHD confirmed by histology.
Consequently, prednisolone 25 mg qd was started at day +165 in the absence of any signs of gastrointestinal or liver involvement of GvHD and tapered without recurrence of acute GvHD afterward. However, under the intensified immunosuppression the viral load increased up to 410.000 copies per milliliter despite the continuation of LMV treatment. Upon genotyping, mutation C325Y (cytosine at amino acid position 325 was substituted by tyrosine) was detected within UL56 which is supposed to confer high-level resistance to LMV.
Consequently, administration of LMV was stopped, and FOS application, adapted to renal function, 3.000 mg bid commenced once again in combination with administration of CMV-hyperimmune globulin. This change in antiviral treatment resulted in a decrease of viral loads. On day +292, the patient is alive in complete remission of AML without signs of GvHD or clinical signs of active CMV infection, still receiving FOS without any side effects. Of note, during the whole course of treatment, CMV was below 1 × 103 copies/ml only until day +42, between day +63 and +67 as well as day +75 and +84 after HSCT.


A 9-year-old male of Asian-Indian origin was brought to our outpatient department with complaints of progressive darkening of complexion, noted by the parents since the past 6 months. There was a history of decreased appetite along with poor height and weight gain for the same duration. There was no history of salt craving or recurrent hospitalization for intravenous fluid administration. He was born of a nonconsanguineous marriage and had an elder and younger sibling, who did not have any similar complaints. On questioning, the mother gave a history of absent tear production while crying in the child. There was no history of difficulty in deglutition to solids or liquids, retrosternal chest pain, or regurgitation of undigested food particles. He denied history of orthostatic dizziness, dryness of skin, difficulty in dark adaptation, or any other autonomic disturbances. Examination revealed a young, average built male with a height of 121 cm (at 10th centile in K.N. Agarwal's growth charts with target height also in the same centile), a weight of 22 kg (at 25th centile in K.N. Agarwal's growth charts) and body mass index of 15.0 kg/m2. His blood pressure was 90/70 mm Hg without postural drop. He had generalized hyperpigmentation involving the knuckles, palmar crease, nail bed, extensor aspects of extremities, and mucosa of the tongue. Sexual maturity rating was Tanner stage III with testicular volume of 10 mL bilaterally. The remaining general and systemic examination including detailed neurological examination was unremarkable.
Laboratory investigations including hemogram, renal function tests, serum electrolytes, liver function tests, and fasting plasma glucose were within normal limits. Bone age (Greulich and Pyle Atlas) was consistent with chronological age. Endocrine evaluation [] revealed 8 am serum cortisol 1.53 μg/dL (normal range: 6.2–19.4 μg/dL), plasma ACTH 1538 pg/mL (normal range: 7.2-63.3 pg/mL), serum T4 9.5 μg/dL (normal range: 5.1–14.1 μg/dL), and serum thyroid-stimulating hormone (TSH) 8.4 μIU/mL (normal range: 0.27-4.2 μIU/ml) (all hormones measured on an autoanalyzer; Roche Elecsys 2010, Roche Diagnostics, Germany, using electrochemiluminescence immunoassay). Basal plasma aldosterone and renin concentration were found to be normal at 25.14 ng/dL (normal range: 2.2–35.3 ng/dL) and 8.19 mU/L (normal range: 4.4–46.1 mU/L), respectively. Further work-up included ultrasonography of the abdomen, which revealed bilateral atrophic adrenals. Schirmer's test response was <5 mm in both eyes, suggestive of severe dry eyes. At this stage, a possibility of ACTH resistance due to triple A syndrome was entertained and the patient was investigated further for possible achalasia cardia. While a barium swallow study was normal, gastroenterologist found increased resistance at the lower end of esophagus on upper gastrointestinal endoscopy procedure, suggestive of achalasia cardia. Esophageal manometry revealed high basal lower esophageal sphincter (LES) pressure with incomplete LES relaxation on wet swallows and absent esophageal peristalsis, with few spastic peristaltic fragments, confirming the diagnosis of achalasia cardia.
He was started on physiological glucocorticoid supplementation with education on stress dosing. The treatment regimen comprised prednisolone twice daily initially, which was changed to dexamethasone once daily after epiphyseal fusion to improve the treatment compliance. Hyperpigmentation and anorexia gradually improved with treatment. TSH normalized on serial treatment with steroids without thyroxine supplementation, suggesting subclinical hypothyroidism due to glucocorticoid deficiency. For dry eyes, lubricant eye drops were prescribed, while he was followed up conservatively for achalasia, which has been asymptomatic till now. The child has been following up with us regularly and achieved a final height of 169 cm (as per the expected genetic potential).


A 34-year-old male presented with painless gross hematuria. A screening urine cytology was suggestive of urothelial cancer. Magnetic resonance imaging of the urinary bladder showed a giant pedunculated tumor (67 mm × 37 mm × 58 mm) on the anterior wall, with multiple daughter tumors up to 15 mm in size [], but all appeared to be non-muscle invasive. A cystoscopy confirmed extensive papillary tumors occupying almost the entire bladder cavity, except for a part of the right lateral wall. The prostatic urethra was also involved by the tumor. A contrast-enhanced computed tomography revealed normal upper tracts and absence of distant metastasis. The clinical tumor stage was ≤T1N0M0. TUR was performed with a curative intent using the standard mono-polar TUR system (Olympus Corporation; Tokyo, Japan). After resection of a number of daughter tumors, sequential resection was performed for the main tumor. The tumor was highly vascular and hemostatic coagulation was required after resection of every chip. As the resection continued closer to the tumor base, maintaining hemostasis became harder because of active bleeding and the papillary shape which covered the bleeding sites and prevented accurate pin point coagulation. All attempts of coagulation with the resection loop and the ball electrode were ineffective because the bleeding point could not be localised as the vision was impaired. Thus, we decided to insufflate the bladder with CO2 to achieve a clear cystoscopic view []. The CO2 intravesical pressure was maintained at 12–15 mmHg by the laparoscopic CO2 insufflator (high flow insufflation unit UHI-4, Olympus Corporation; Tokyo, Japan), and the bleeding point was localised. Tumor resection was then continued with conventional pure cut mode with intermittent smoke evacuation to ensure visibility. Clots and resected tissues were removed intermittently by flushing with saline.
The conventional coagulation mode often caused tissue carbonization, which was liable to dislodge from the coagulated surface, resulting in inadequate hemostasis. Instead, the soft coagulation mode provided a better hemostasis. These steps were repeated numerous times, and the exophytic portion of the tumor was finally resected. The operative time was 6 h, but there were no signs of hyponatremia or hypercapnia. Blood transfusion was not required and the hemoglobin fall was from 13.8 mg/dl to 12.9 mg/dl during the surgery. The postoperative course was uneventful and he was discharged on the 4th postoperative day. Although we attempted bladder preservation based on the preoperative imaging, he finally underwent radical cystectomy as the histopathology showed muscle invasive urothelial cancer (high grade, pT2).


A 51-year-old, gravida 2 para 2, menopausal woman was sent to the emergency department due to syncope and vaginal bleeding for several weeks. Abdominal computed tomography (CT) revealed an 8.3-cm mass in the right pelvis, suggesting that this tumor probably emerged from the vagina or uterine cervix, with involvement of the urinary bladder, rectum, and right ureter, and mild obstructive uropathy. A Foley or double-J catheter was inserted and a vaginal biopsy was performed. The initial report revealed sarcoma or malignant mixed müllerian tumor. As vaginal sarcoma was suspected, the patient underwent suboptimal debulking surgery with total vaginectomy. During the surgery, a significant vaginal tumor could be seen via the vagina cuff, and a very large vaginal tumor was excised (Fig. ). Pathology showed that the cells were arranged in solid nests or lobules with round to ovoid nuclei, and clear to eosinophilic cytoplasm. Hypercellularity, marked nuclear pleomorphism with high mitotic features (65/50 high-power field [HPF]), tumor necrosis, and carcinoma-like feature were noted (Fig. ). The cells were immunoreactive for melan-A, and were focally positive for human melanoma black 45 (HMB-45), actin, and transcription factor E3 (TFE-3). S-100, cytokeratin, and paired-box gene 8 immunostaining was performed and the results were negative (Fig. ). Based on these findings, the patient was diagnosed with PEComa of the vagina with aggressive behavior. Multi-modality treatment was administered, including mTOR inhibitors and radiotherapy. To date, the patient survived without the disease (more than 7 months).


This 80-year-old woman with hypertension and arrhythmia on regular maintenance therapy had urinary incontinence for several weeks. Transvaginal ultrasound showed a 10-cm pelvic mass with rich flow. Magnetic resonance imaging showed a lobulated heterogeneous soft tissue mass, 10 × 8 × 8 cm in size, arising from the right lateral posterior uterine body with an intermediate high signal on T2 weighted image, which indicates sarcoma. Complete staging surgery was performed. Pathology showed PEComa of the uterus, pT2bN0M0, with International Federation of Gynecology and Obstetrics stage IIB. Because the patient was elderly, no further treatment was administered. However, 1 month later, tumor recurrence resulted in vaginal bleeding and abdominal pain. Computed tomography examination confirmed tumor recurrence located at the right lower pelvis. Secondary complete tumor excision, including total vaginectomy and stump tumor resection, was performed, and pathology showed PEComa recurrence. Because of the aggressive behavior of this disease, postoperative multi-modality treatment, including the administration of mTOR inhibitors, and radiotherapy were initiated. To date, the patient has survived without the disease (more than 4 years).


This 71-year-old woman, gravida 4, para 3, experienced menopause at the age of 50. She experienced intermittent lower abdominal pain for a month. Transabdominal ultrasound showed a 14-cm pelvic solid tumor. A computed tomography scan showed a pelvic mass with peritoneal seeding and ascites, which was suspicious of retroperitoneal uterine sarcoma. The patient underwent suboptimal debulking surgery. Pathology revealed broad ligament PEComa. For personal reasons, no further treatment was administered. Four months later, the patient experienced abdominal pain; a follow-up computed tomography examination was arranged and showed multiple mass lesions with heterogeneous enhancement, favoring persistent disease. Despite administration of mTOR inhibitor after disease progression, the patient died of disease 1 year after diagnosis.
Our experiences on gynecological PEComas were limited by the small case numbers and short follow-up period. However, we believe that with complete surgical resection of the tumor and early administration of mTOR inhibitors for aggressive disease behavior, patients might have the chance to achieve optimistic clinical outcomes and prolonged survival. The clinical and immunohistochemical characteristics of all patients diagnosed and treated at our institution are summarized in Tables and .


An otherwise healthy 17-year-old male undergone excision of an inflamed sebaceous cyst located on his right cheek. The patient presented again with nodulocystic acne and began treatment with oral isotretinoin 1 mg/kg/d. On day 29 of the treatment, he hit his right cheek and the incision scar (approximately 130 day old) was dehisced []. It was followed by local wound dressings while continuing oral isotretinoin treatment. The wound healed by secondary intention in about 2.5 months, leaving an atrophic depressed scar [].


An 81-year-old male was operated for squamous cell carcinoma (SCC) located on the left ear helical border. A new tumoral nodule was detected on the right side of the midline of the forehead and excised 40 day later, and the histopathological diagnosis was again well-differentiated SCC. Oral acitretin 25 mg/d was initiated for chemoprevention of new SCC and treatment of widespread actinic keratoses. On day 8 of treatment, the surgical scar on the patient's forehead (25 day old) was dehisced. During the next few days, the left helical scar widened. Scar dehiscence on the forehead healed in about 7 weeks via secondary intention with wound dressings.


WJ, a 44-year-old gentleman, with a background of HIES and recurrent chest infections, was initially seen by his consultant immunologist in the outpatient clinic and from there admitted directly to the acute trauma and orthopaedic ward. He gave a 7-week history of worsening left hip pain, with no history of trauma, and no pre-existing history of joint arthritis (given his known HIES). A week before this outpatient attendance, WJ had organized a private magnetic resonance imaging (MRI) pelvis, which demonstrated a fluid collection within the left hip joint ( and ). On examination, there was marked left hip tenderness with pain on hip flexion and rotation, as well as an antalgic gait. The left knee was not hot, swollen or tender and did have a full, normal range of movement. Similarly, examination of the lumbarsacral spine did not reveal any abnormality. Surrounding the left hip, there was no swelling, erythema, and no local signs of injury or infection. The patient’s physiological parameters (temperature, blood pressure, heart rate, respiratory rate, and oxygen saturations) were all within normal ranges. Laboratory investigations demonstrated a normal white cell count (WCC) (6.74 × 109/l) and a C-reactive protein (CRP) of13 mg/l. The CRP level was slightly elevated, and given the history of long-termimmunosuppression (due to the HIES) this had to be and was not taken lightly. As mentioned previously, WJ was admitted to the ward with a report of the private pelvis MRI scan that had been performed. Despite this, a plain radiograph of the pelvis was still obtained (), and this showed multiple sites of calcified apophyses, with an aspherical femoral head and dysplastic acetabulum. Abscess formation, including cold abscesses, can be quite common within HIES patients []. For this reason, the patient underwent an ultrasound (US) guided aspiration of the left hip ( and ). This procedure was carried out by a consultant radiologist, with a specialinterest in musculoskeletal imaging. During the procedure, only a small amount of fluid was found to be in the left hip joint. However, interestingly, in addition to the left hip, a fluid collection was also seen within the left iliopsoas. From both sites, 20ml of blood-stained fluid was aspirated. No pus was seen. The fluid sample was sent to the laboratory for microscopy, culture, and sensitivity and after prolonged incubation, no organisms were grown. Over the course of the ensuing 3days, serial blood tests demonstrated a fall in the CRP to within normal range, with no increase in the WCC. Following the US-guided procedure, WJ noticed a significant improvement in his left hip. Mobilizing was a lot more comfortable, and again no abnormality in the physiological parameters was recorded. WJ was discharged home, having not required any antibiotics. Follow-up from the orthopaedic and the immunology teams had been put in place before discharge.


A 58-year-old male presented with increasing dyspnea following MI. He had thready pulse and blood pressure of 86/34 mmHg on dobutamine and adrenaline infusion at 10 and 0.1/μg/kg/min, respectively. His peripheral oxygen saturation was 88% on high flow oxygen with widespread bilateral lung opacities on chest X-ray. Blood investigations showed hemoglobin 13.5 g/dl, blood urea 142 mg/dl, serum creatinine 2.3 mg/dl, random blood sugar 170 mg/dl, serum sodium 128 meq/1, and serum potassium 5.1 meq/1. Urgent coronary angiography revealed blockade of left anterior descending (LAD) 90%, circumflex 50% and the total occlusion of right coronary artery (RCA). The RCA occlusion was stented successfully during the procedure. The transthoracic echocardiography showed left ventricular (LV) ejection fraction (EF) 20% and a large posterior-inferior ventricular septal defect (VSD) with a shunt gradient of 48 mmHg. Mechanical circulatory support was initiated with intra-aortic balloon pump (IABP) and as he was deteriorating rapidly, the decision was taken to perform an urgent operation with extracorporeal membrane oxygenation (ECMO) as a backup support.
General anaesthesia was induced with fentanyl/propofol in slow titrated dosage, and endotracheal intubation was facilitated with cisatracurium. Intraoperative transesophageal echocardiography (TEE) was consistent with preoperative TTE finding. Anaesthesia was maintained on propofol and cisatracurium infusion with supplemental midazolam, fentanyl boluses, and sevoflurane. The patient required O2:Air (80:20) to maintain oxygenation with increasing requirement for inotropic and vasoconstrictor support. We decided to go for immediate central cannulation and subsequent cardiopulmonary bypass following anaesthetic induction. Our main aim was to decrease the shunt, prevent hypoxia and to provide an early organ support. The VSD was approximately 3.5 cm in diameter repaired by a bovine pericardial patch, and the friable ventriculotomy was closed using interrupted pledgeted stitches. The coronary artery bypass graft was performed to artery LAD using left internal thoracic artery and venous graft to its diagonal branch. Postoperative TEE showed no residual VSD, and as expected, he was unable to wean from bypass machine. We decided to continue him on central ECMO support to decrease the tension on VSD pericardial patch during immediate postbypass period.
Postoperatively, he required venovenous hemofiltration and the central ECMO switched over to peripheral with femoral cannulation after 72 h. He was eventually weaned from ECMO and IABP support on day 6 and required 43 days stay in cardiac rehabilitation facility and continued to do well following discharge and subsequent follow-up.


A 53-year-old man transferred 2 days following MI was awake, comfortable on room air, and hemodynamically stable without inotropes. His coronary angiogram revealed subtotal occlusion of LAD, and transthoracic echo showed a VSD 1.3 cm located on the anterior septum with EF 50%. He was scheduled for urgent closure of septal defect and a bypass grafting for LAD after the IABP insertion. General anesthesia was induced with remifentanil and propofol in titrated doses and maintained on midazolam, remifentanil, and propofol infusion with cisatracurium for muscle paralysis. The LAD grafting was performed, and the closure of defect was performed using Dacron patch and the pledgeted sutures to close ventriculotomy. He could be weaned off bypass without inotropes and was extubated on 1st postoperative day. The patient was discharged from intensive care in 48 h, and his remaining postoperative course was free of major complications.


A 56-year-old male admitted 4 days following a 2.2 cm postinfarction VSD on TTE. His BP was 102/66 mmHg on dobutamine 6 μg/kg/min. Coronary angiography revealed total occlusion of LAD and 70% posterior descending artery stenosis. The intraoperative TEE revealed a VSD found at middle of the very friable, necrotic anterior septum with poor ventricular function. VSD was closed with Dacron patch, and grafting for two diseased vessels was performed. The patient could be weaned off cardiopulmonary bypass (CPB) with moderate inotropes. However, unfortunately, postbypass TEE showed 0.3 cm residual leak that was left behind considering risk of second bypass and its consequences. He was carefully monitored, remained hemodynamically stable postoperatively, and required percutaneous closure to seal off the residual VSD in catheter room 4 weeks following surgery.


A 64-year-old man with acute MI underwent primary angioplasty to the RCA. However, his symptoms got worse over the next 12 h and developed sudden florid pulmonary edema although his hemodynamics was stable requiring low dose inotropes. Echocardiography revealed moderate left ventricular function with EF 43% and a large VSD measuring 2.9 cms located in the posterior part of the ventricular septum. He was eventually required mechanical ventilation, and mechanical circulatory support was initiated using IABP. In the following 24 h, his renal function deteriorated with progressively increasing requirement of inotropic support. The surgery was deferred to optimize his respiratory and renal function using diuretics, nitrates, positive pressure ventilation, and inotropes. Over the next 3 days, his oxygen requirement gradually decreased with improvement in renal and hemodynamic parameters. The patient was taken to the operating room with minimal mechanical ventilation support 6 days following the onset of acute MI. Anesthesia continued on midazolam, fentanyl, propofol, sevoflurane and cisatracurium for muscle paralysis. Surgical repair of the defect was performed, and the operation was completed with associated saphenous grafting to the circumflex territory. The patient could be weaned off with milrinone and noradrenaline, and the IABP could be continued in postoperative period. Patients required hemofiltration for 2 days postoperatively with gradual weaning of inotropes and discharged to the ward on day 5. The patient stayed for 21 days in cardiac rehabilitation and currently doing well 4 months following the surgery.


A 29-year-old woman visited her new family physician complaining of headache, nasal congestion, and hyposmia for several weeks. She had no complaints of vision changes, skin lesions, paresthesia, numbness, or hearing impairment. The patient only had a history of rhinosinusitis with exacerbation in the spring and autumn, and was otherwise unremarkable. In the previous week, she had been using a nasal steroid spray and antihistamines without complete relief. Examination revealed asymmetry of the left eye and painful swelling of the upper left orbit was identified.
These signs and symptoms were initially mistaken to be caused by sinusitis and an antibiotic was prescribed to treat that condition, as well as a non-steroid anti-inflammatory. However, because of the previously unidentified asymmetry of the left eye, an X-ray of the facial bones was requested. The X-ray revealed an opacity of the left frontal sinus and a right shift of the nasal septum, suggesting that more reliable assessment could be achieved with a computed tomography (CT) scan. The patient showed no signs of reduction in facial swelling despite improvement in other symptoms, and the CT scan revealed expansion of the anterior portion of the left frontal bone, with involvement of the orbital surface and the ethmoid bone, suggesting PFD.
With a probable diagnosis of PFD, the family physician referred the patient to both the neurosurgery and otorhinolaryngology departments of a central hospital.
After the initial assessment conducted by a neurosurgeon, magnetic resonance imaging and scintigraphy were performed. Both exams confirmed the presence of lesions in the orbital surface of both the frontal and ethmoid bones (). Blood analysis excluded any endocrine abnormality. No biopsy was performed; however, the diagnosis of PFD was confirmed by a multidisciplinary team and a watchful waiting approach with periodical imaging assessments was recommended.
The patient currently presents no relevant symptoms, except for a slight deformity of the left eye () and the only medication taken is non-steroid anti-inflammatories in emergencies. She has accepted the benign condition of her tumor and, after an initial period of anxiety, has resumed her life without limitations.
Informed consent was obtained from the patient.


A 50-year-old female patient, initially presented with complaints of swelling in front of the neck since 8 years, was progressively increasing in size with associated pain since 3 weeks that was dull type not radiating with no aggravating and relieving factors. There was no history of change in voice, difficulty in deglutition or respiration. There was no history of palpitations, edema, intolerance to warm temperature, weight loss, tremors, abdominal pain, vomiting, nausea, jaundice, restlessness, agitation, seizures, and hyperdefecation. There was no history of lethargy, weight gain, dyspnea, breathlessness, hearing loss, intolerance to cold, constipation, hair loss. There was no history of discoloration of the skin, weakness of limbs, fever, bleeding manifestations, and syncope.
On examination, Swelling of size 12 cm × 15 cm was noted in front of neck, firm, nontender, moving with deglutition. Ultrasonography of neck revealed multiple isoechoic nodules with central cystic degeneration and increased vascularity in both lobes – suggesting multinodular goiter. Later, the patient underwent total thyroidectomy. Postoperative histopathological examination findings suggested papillary microcarcinoma thyroid of trabecular variant with tumor node metastasis staging being T1aNxMx (Stage I). Then, the patient was maintained on tablet thyroxine 125 μg/day.
A year later, the patient presented with back pain, magnetic resonance imaging spine showed metastasis to D5–D7 vertebral bodies with destruction of D6 vertebra causing cord compression. Patient then received palliative radiotherapy to spine with a total dose of 20GY in 5 fractions.
Later, the patient underwent Iodine-131 (I131) whole-body scan, following the withdrawal of thyroxine hormone for 4 weeks, which showed radioiodine avid uptake noted in thyroid bed - suggestive of residue. Also seen multiple foci of abnormal tracer activity in right humeral head, D5–D7 vertebral bodies, left adrenal gland, liver and bilateral lungs- suggestive of functioning metastases [].
The patient was planned for radioiodine ablation therapy after being stratified as high risk according to the American Thyroid Association. The patient was administered 200 mCi of radioactive iodine orally. Posthigh dose I131 whole body scintigraphy finding showed good radioiodine uptake in residual thyroid tissue in thyroid bed and other sites mentioned in the body as in pretherapy scan [].


Abdominal distension without obvious cause, frequent urination, and urinary incontinence for 10 d.
On January 14, 2018, a 47-year-old female patient came to our hospital due to "abdominal distension for 10 d and swelling of both lower limbs for 3 d". The ultrasound examination showed a huge hyperechoic mass in the liver and multiple peritoneal solid space-occupying lesions. Then the patient was admitted as having “primary liver cancer”.
A laparoscopic partial hysterectomy was performed in 2014 for uterine fibroids, with a pathological diagnosis of uterine leiomyoma. In 2011, a laparoscopic myomectomy was performed for uterine fibroids, with a pathological diagnosis of endometrial stroma and smooth muscle mixed tumor with sex cord-like differentiation.
Regular menstrual cycle but more menstrual flow. The patient denied any family history of genetic disease or history of cancer.
The patient's mental state, appetite, food intake, and sleeping status were good, and her body weight was 5 kg higher than it was before onset. The pelvic mass was clinically investigated, and the patient was admitted to the hospital for a malignant ovarian tumor.
Laboratory findings included CA125, 189.5 U/mL; albumin, 29.5 g/L; alanine aminotransferase, 7.8 U/L; creatinine, 50.0 μmol/L; indirect bilirubin, 3.3 μmol/L; direct bilirubin, 2.1 μmol/L; total bilirubin, 5.4 μmol/L; prothrombin time, 12.6 s; and platelet volume distribution width, 9.6%.
Ultrasound examination showed a large hyperechoic mass in the liver, multiple solid space-occupying lesions in the abdominal cavity, as well as a large amount of fluid in the abdominal cavity. Magnetic resonance imaging examination revealed multiple cystic masses in the pelvic cavity of the middle and lower abdomen, with local fusion. A tumor of adnexal origin was strongly considered, as the tumor was pushing the adjacent organs and blood vessels, with a clear boundary. The uterus could not be seen, and the bilateral adnexa were unclear. Plain and enhanced computed tomography scanning revealed multiple masses of different sizes in the middle and lower abdominal-pelvic cavity, strongly suggesting malignant tumors originating from reproductive organs. Intravenous pyelography showed no visualization of the right ureter and the lower segment of the left ureter, no dilatation of the bilateral pelvis and calyx, and poor bladder filling.
The specimen contained three solitary masses of 13-25 cm in diameter. The cut surface was grayish-white-yellow, with a tough texture and intact capsule, showing hemorrhage and cystic changes (Figure -C). A 3.5 cm segment of the small intestine contained a nodule on the cut surface between the muscle and serosal layers, with a 1.5 cm diameter, grayish-white color, and a tough texture (Figure ). A segment of the oviduct, 4 cm long and 0.5 cm in diameter, contained a nodule under the serosa of 1.5 cm in diameter, and the cut surface was gray with a tough texture (Figure ). A large mass of omentum tissue, measuring 26 cm × 23 cm × 22 cm, showed several scattered nodules, with diameters of 1.5-2.5 cm, a grayish-white or -yellow cut surface, and a tough texture (Figure ).
The specimens were fixed in 10% neutral formalin, processed, embedded in paraffin, routinely sectioned at a thickness of 4 μm, stained with hematoxylin and eosin, and observed and photographed under a light microscope. Microscopic observation of the (pelvic/abdominal) mass showed diffusely distributed tumor cells, in the shapes of cords or small islands in some areas, which were connected in a network. The tumor cells were uniformly sized and shaped like short spindles. The cells were benign, and mitotic figures were rare (< 3/10 high power fields) (Figure ). The tumor tissue was rich in blood vessels, and some tumor cells were distributed in a vortex-like appearance around the blood vessels (Figure ). Many sex cord-like differentiated tumor cells were observed (Figure ), and some tumor cells were differentiated into smooth muscle cells (Figure ). The tumor cells showed "tongue-like" invasive growth (Figure ), and vascular invasion in the encapsulated portion was observed in some areas (Figure ). Part of the stroma showed obvious hyaline degeneration, forming a starburst-like structure (Figure ), while foam cells and inflammatory cells were also observed (Figure ). Combined with the immunohistochemical analysis, the results were in line with a low-grade endometrial stromal sarcoma with sex cord-like and smooth muscle-like differentiation (pelvic/abdominal cavity, small mesentery, and right oviduct). The microscopic morphologies of the small intestine, oviduct, and omental nodules were consistent with that of the pelvic/abdominal tumor (Figure -J). The pathological sections from 2011 and 2014 were reviewed, and their pathological morphologies were consistent with those of the new one. The final pathological diagnosis was low-grade endometrial stromal sarcoma with sex cord-like and smooth muscle differentiation, with extensive metastasis in the sigmoid colon, oviduct, and omentum.
The tumor cells were CD10 diffuse (+) (Figure ), Vimentin (+), SMA (partial +) (Figure ), cyclinD1 (weak focal +), DOG-1 (partial +), CD34 (vessel +), ER (+++, 90%) (Figure ), and PR (+++, 90%) (Figure, CD56 (partial +) (Figure ), CD99 (focal +) (Figure ),and the ki-67 index was approximately 3%. The results of the remaining immunohistochemistry tests were negative.


Emaciation and severe malnutrition with a T-tube for biliary drainage placed for almost 2 years.
A 52-year-old female patient presented with emaciation and severe malnutrition and a T-tube for biliary drainage, which was placed for almost 2 years when she walked into our ward. She visited the local hospital 2 years ago because of obstructive jaundice with right epigastric pain for 3 mo. She underwent a cholecystectomy at the local hospital, which revealed a gallbladder filled with tumour-like tissue, leading to the diagnosis of gallbladder adenocarcinoma. A choledochoscopy showed a common bile duct (CBD) filled with adenomatoid tissue. After removing the tumour tissue, T-tube drainage was performed. Two months later, she came back to hospital to pull out the T-tube. A second choledochoscopy showed that the CBD was filled with adenomatoid tissue and biopsy showed severe dysplasia of the biliary papilloma. The patient and her family members felt hopeless and decided not to pursuit any further treatment. However, the patient still survived 2 years later and she came to us for help. She presented with severe malnutrition and recurrent infections with minimum haemoglobin and albumin of 3.7 g/dL and 2.8 g/dL, respectively.
Unremarkable.
Physical examination showed that the skin surrounding the T-tube appeared with grey-white, hyperplastic granulation tissue with a stench (Figure ).
Haematological examination revealed an erythrocyte count of 2.38 × 1012/L and a haemoglobin level of 4.6 g/dL. Liver function tests showed an elevated alanine aminotransferase level of 66 IU/L and asparagine aminotransferase level of 42 IU/L. Bilirubin levels were normal, and hypokalemia was not observed. Tumour marker tests showed that carbohydrate antigen 19-9 was 731.3 U/mL and carcinoembryonic antigen was 4.36 ng/mL. Other tumour markers, including α-fetoprotein and cancer antigen 125, were normal. Tests for hepatitis B and C virus were negative.
The enhanced magnetic resonance imaging (MRI) of the upper abdomen revealed a neoplasm with a diameter of 15 cm locating in the gallbladder area surrounding the CBD where a drainage tube was placed (Figure ). The intra-hepatic bile duct was slightly dilated, while the extra-hepatic bile duct was obviously expanded. The skin biopsies suggested atypical glandular tissue which was considered as an adenocarcinoma originating from the biliary system.


We present the case of a 74-year-old man who underwent MPS for evaluation of increasing dyspnea as part of a preoperative assessment before potential abdominal aortic aneurysm repair. He was a retired builder who was an ex-smoker of 25 pack-years with a past medical history including ischemic heart disease, severe chronic obstructive pulmonary disease, and tissue aortic valve replacement.
MPS with technetium-labeled hexakis-2-methoxyisobutyl isonitrile (Sestamibi, Cardiolite®, Lantheus Medical Imaging, North Billerica, MA, USA) as the radiopharmaceutical and adenosine as a pharmacological stressor showed no evidence of myocardial ischemia, and this was confirmed with automated analysis. However, a subpleural opacity in the posterior aspect of the right lower lobe was seen on review of the CTAC images []. The corresponding slice on single-photon emission CT (SPECT) fused with CT is also shown []. This measured 10 mm and was noted in the official MPS report. In accordance with current clinical guidelines for the management of lung nodules, further evaluation with full-dose diagnostic CT was recommended in the MPS report provided to the referring physicians.[] Interestingly, there was no radiopharmaceutical (sestamibi) uptake associated with the tumor.
The patient had undergone multiple CT examinations of the thoracic and abdominal aorta, which included the region where the incidental CTAC nodule was located, under the care of the vascular team in the years prior to the MPS taking place (most recently 1 year before MPS), but no lung nodules/opacities had been reported. A further CT aorta took place 2 months following MPS which reported that the nodule now measured 12 mm and was suspicious for malignancy [Figure and ]. Unfortunately, no further urgent investigation was performed based on the MPS report or this CT.
The next imaging study performed was another CT scan, which occurred 14 months after MPS. This revealed that the pleural based opacity in the right lower lobe had grown to 23 mm and was now associated with multiple smaller opacities within the left lung and hilar lymphadenopathy [Figure and ]. An urgent biopsy was performed at this point providing a histological diagnosis of lung squamous cell carcinoma. Staging CT showed diffuse hepatic metastasis [Figure and ]. Emergent chemotherapy was started, but the patient died within weeks of its commencement.


In June 2018, a 65-year-old man presented at an outside facility with an epigastric discomfort and mass for about 2 months. The movable mass started as a small lump and gradually increased in size. Laboratory values were unremarkable. Gastroscopy revealed a malignant tumor in the gastric body. Pathology showed small cell malignant tumors. Histomorphometry showed that the tumor originated in the lymphoid and hematological system. There was too little biopsy tissue to determine the differentiation. In July 2018, the patient presented to our hospital for further diagnosis and treatment. We performed upper gastrointestinal contrast to identify the tumor site. Barium x-ray revealed that the tumor was located in the gastric body and about 102 mm size (Fig. ). Abdomen computed tomography (CT) showed that the gastric cavity was full of chyme, and the irregular soft tissue shadow was seen in the greater curvature, and the enhancement was obvious (Fig. ). It was considered as a malignant tumor of gastric body. To get more tissue, we conducted stomach puncture biopsy. Pathology showed small-round cell malignant tumors. And immunohistochemical examinations revealed that the tumor tend to be a plasma cell tumor. To exclude associated multiple myeloma (MM), patient underwent bone marrow biopsy. His bone marrow morphology test, peripheral blood smear, and serum protein electrophoresis were found to be normal. In September 2018, the patient underwent distal gastrectomy. The tumor located in the anterior wall of the stomach body near the greater curvature (Fig. ). The tumor was a centrally ulcerated, relatively well-demarcated bulky mass, measuring 90 × 90 mm in diameter (Fig. ). Histopathologic examination of the specimen revealed plasmablastic plasmacytoma originating in the stomach with transmural extension (Fig. ), but without lymph node metastasis. These cells were positive for CD38, CD138, MUM-1, bcl-2, and CD23 and negative for CD3, CD20, CD79a, CyclinD1, CD10, bcl-6, CD5, CK, EMA, and CD30, with a Ki-67 proliferative index of about 70% (Fig. ). The patient had a good postoperative recovery and other than ascites caused by hypoproteinemia, there was no complications and the patient was successfully discharged. To October 1, he is regularly followed up at a postoperative clinic and is doing well, and there is no plan for adjuvant treatment.


This proband, a 23-year-old male, was the only child of a non-consanguineous family. No history of genetic diseases was found in his family. He was born at full-term without birth injury and was in good health till the age of 11 years when he had difficulty in writing and manipulation using right hand with slow progression. Now he had to write with his left hand. By the time he was 15, he spoke with a severe stutter accentuated by tension and had bilateral hands’ mild static tremor.
Examination of the nervous system revealed mild tremor with both hands and severe stutter. Both lower extremities were revealed no lesions. No gait and feeding difficulties or balance impairment or cranial nerve deficits were found. Fundus examination discloses nothing of note and the rest of the eye examinations including extraocular movements, visual acuity, visual field and pupillary evaluation were normal. He did not have cognitive problems despite poor academic performance. The score of self-rating anxiety scale was 32 which revealed mild anxiety state. In addition, his parents complained that he was irritable in life but lack of related psychological examination.
Laboratory tests including blood biochemistry, ceruloplasmin, thyroid function, parathormone, calcitonin, serum HIV antibody, syphilis antibody and autoimmune antibody were normal. Neuroimaging findings: the whole-spine magnetic resonance images (MRI) was normal. Brain computed tomography scan revealed symmetric calcifications of the bilateral globus pallidus (Fig. A). Brain T2-weighted (Fig. B) and fluid-attenuated inversion recovery (FLAIR) (Fig. C) images showed bilateral symmetrical low signal intensity in the globus pallidus with central hyperintense foci termed as “eye-of-the-tiger” sign. Brain susceptibility weighted imaging (SWI) showed bilateral symmetrical low signal in the globus pallidus which demonstrated brain iron accumulation (Fig. D).
Two compound heterozygous mutations c.1696C > G and c.1160_c.1161insG respectively located on exon 7 and 3 of PANK2 were identified in the proband (Fig. ). The mutation, c.1696C > G, changed the amino acid at position 566 from leucine to valine (p.L566 V). And the mutation, c.1160_c.1161insG, denotes a frame shifting change with leucine97 as the first influenced amino acid and the new reading frame being open for 9 amino acids (p L387Lfs∗9).
His father and mother were respective heterozygous carriers of c.1696C > G and c.1160_c.1161insG. In addition, we did not detect single nucleotide polymorphism in the healthy controls. Two compound heterozygous mutations in our study were absent in the 1000 Genomes Project database ().