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pmc-6521563-1 | A 25-year-old man, driver by profession, presented with recurrent episodes of dull aching right flank pain of 6-year duration. The pain was affecting his work. The patient was thin built with a body-mass-index of 20 Kg/m2. The preoperative CT scan revealed a horseshoe kidney (HSK) with the right side involved by ureteropelvic-junction obstruction (UPJO) causing gross hydronephrosis and parenchymal thinning (Figures and ). The relative renal function was 11% on DTPA renogram. The left renal moiety was functioning well with a GFR of 71.9 ml/min. The S. Creatinine was 0.9 mg%. The patient also had a history of epilepsy but there was no identifiable congenital anomaly other than the HSK. The options of right pyeloplasty and right nephrectomy with their pros and cons were discussed with the patient. The patient opted for nephrectomy. A transperitoneal laparoscopic right nephrectomy was done using five ports in the right lateral position. A preliminary retrograde pyelography (RGP) or right ureteric catheterization was not done. The right colon and duodenum were reflected medially to expose the kidney. As expected the right kidney was lying relatively lower and medially than what a normal kidney would be. Other than the main renal artery, the upper and the lower poles were supplied by accessory polar artery each. The upper polar artery itself had a very early branching and the lower polar artery was crossing the UPJ and causing obstruction. There were two right renal veins lying between the main renal artery and the lower polar artery. The right ureter was divided about 4 cm below the ureteropelvic junction. All the arteries and the veins were clipped with hem-o-lok clips and divided. The kidney was dissected within the Gerota's fascia from the upper pole downwards. The isthmus was mobilized to the extent possible and was divided just to left of inferior vena cava. Body side of the cut edge showed some brisk bleeding. The cut edge was sutured with 2'0 V-Loc sutures over a surgical bolster and hemostasis was secured. The specimen was removed using an endo-bag and a drain was placed. There was no intraoperative complication. The only abnormal event in the postoperative period was a persistent drain output of 100ml of urine every 24 hours. The drain fluid creatinine was 22mg%. The postoperative ultrasound examination of the abdomen did not reveal any significant intra-abdominal collection. Left retrograde pyelogram and right retrograde ureterogram done on the 14th postoperative day (POD) did not reveal any contrast leak either from the left side or from the right ureteric stump. Subsequently CT urogram was done which showed that a small residual stump of the right kidney fused to the lower pole of the left kidney was still viable and producing and leaking urine (). This stump was supplied by a tiny arterial twig from the left renal artery. An exploratory laparotomy was done on the 16th POD through upper midline incision. The descending colon was reflected medially to expose the lower pole of the left kidney with the attached stump of the right kidney. The stump was densely adherent to the IVC and surrounding structures. For additional exposure and dissection, the mesentery of the transverse colon was opened lateral to the inferior mesenteric vein. The stump was freed from the IVC and delivered to the left side from underneath the inferior mesenteric artery (). The stump was divided flush with the lower pole of the left kidney and the cut edge was sutured with 2'0 Vicryl over surgical bolster. The postoperative recovery was uneventful. |
pmc-6521824-1 | A 19-year-old Indian male was admitted with complains of abdominal pain, nausea, vomiting, and weight loss. He was diagnosed with moderately differentiated adenocarcinoma (T2N0M0) and underwent left hemicolectomy, colocolic, and jejunojejunal anastomosis. Seven days postoperatively patient developed anastomotic leak for which he was reoperated. Postoperatively (day 2 of ICU), patient required high dose vasopressor, his condition worsened and had to be put on mechanical ventilation for pulmonary edema (). 2D-echocardiography revealed severely depressed left ventricular function.
Echo findings are as follows: Global hypokinesia more in anteroseptal wall, anterior wall, and intraventricular septum. Left ventricular ejection fraction (LVEF) is 15–20% (visually estimated). Mild mitral regurgitation, mild tricuspid regurgitation, no pulmonary artery hypertension, intra-ventricular and intra-atrial septum are intact. No pericardial effusion, clot or vegetation seen.
ECG showed sinus tachycardia (heart rate—150 bpm), poor R wave progression and nonspecific ST-T changes. Troponin I 1.69 ng/mL, CPK-MB 5.2 ng/mL, BNP 2000 pg/mL.
Possibility of acute coronary syndrome was kept as a differential, but possibility of septic myocarditis was strongly considered. Patient was started on daily aspirin 75 mg, clopidogrel 75 mg, injection fondaparinux 2.5 mg, and injection torsemide 20 mg thrice daily.
Over the next 24 hours (day 3) patient's hypotension and metabolic acidosis worsened despite high dosage of epinephrine, norepinephrine and dobutamine as well as stress dose of hydrocortisone. His tachycardia was bothersome. He had chilled peripheries and seemed to be maximally vasoconstricted. His urine output started falling. Antibiotics were escalated according to pus culture sensitivity reports. Considering cardiogenic shock to be primarily responsible for the patient's condition, it was planned to put IABP. Without wasting time 34 Fr IABP catheter was inserted through right femoral artery. IABP support was initiated with the use of 1:1 electrocardiographic triggering. In few hours CVP was reduced from 18 mm Hg to 10 mm Hg and heart rate settled from 160 bpm to 120 bpm.
Over next 48 hours patient's hemodynamic improved. Lungs were clearer (). Heart rate started settling from 120 bpm to around 100 bpm. Ionotropic supports were gradually tapered maintaining a mean arterial pressure of 65 mm Hg. Patient started pouring good urine output. On day 6 (day 3 of starting IABP), platelet counts started falling. Patient was maintaining his blood pressure at minimum dose of epinephrine and norepinephrine. IABP was removed. Till next day, when the effect of atracurium was completely weaned off, patient did not become alert. He was opening eyes spontaneously but was not following command; gaze was upward, bilateral extensor planter reflex. MRI brain was done which showed symmetrical mild ill-defined hyperintensity in bilateral occipital lobes, basal ganglia-thalamic region and splenium of corpus callosum (). This was suggestive of possibility of PRES.
On day 9 of ICU admission patient's tracheostomy was done. Patient continued to be on vasopressor and inotropes, although requirement was low. Antibiotics were further modified according to blood and other fluid culture reports. Over next 5 days epinephrine and norepinephrine were completely withdrawn. Patient neurologically improved and started following commands. After pressure support trial for a day, on day 16 of ICU admission his ventilator support was withdrawn. On day 18, patient's repeat 2D echo was performed which showed an improved LVEF of 40–45% with mild septal hypokinesia. He was shifted out of ICU.
His trachea was decannulated and on day 21 he was discharged from the hospital with functioning colostomy in situ. |
pmc-6521830-1 | A 63-year-old male, a known hypertensive and diabetic for 20 years presented with high-grade fever associated with chills. Fever was persistent since last three months and was associated with weakness and weight loss (10 kg). It was not associated with cough, cold, loose motions, vomiting, pain abdomen or headache. He was investigated for infectious causes, however no specific source was found. Despite treatment with antibiotics his symptoms persisted. He was then investigated for connective tissue disorders which revealed high ACE level for which corticosteroids were given in the previous hospitalization (not ours). However fever did not subside. Contrast enhanced computed tomography (CECT) of thorax showed solitary pulmonary nodule with centrilobular emphysema while ultrasound abdomen was unremarkable. Serum protein electrophoresis was normal, fibroscan was 20.9. A PET scan was also done which showed sellar mass of 2.5 × 2.2 × 1.6 cm with sellar expansion. Hormonal work up was normal. Based on CECT findings and positive quantiferon Gold essay, he was started on anti tubercular therapy (ATT) outside our hospital. He did not show response to the treatment and ATT was stopped after one month.
On presentation to our hospital patient was found to be drowsy, oriented to time, place and person, blood pressure was 108/74 mm hg, pulse rate 92/min, SPO2 88%. On examination, pallor was present, chest examination revealed bilateral basal crepitations with normal air entry. CVS examination was normal. Abdomen was soft, non tender without any obvious organomegaly. He was admitted and started on IV antibiotics, IV hydrocortisone (replacement doses) and supportive medications. A provisional differential diagnosis of sarcoidosis, granulomatous polyangitis and infective etiology was kept. Routine investigations were normal (). Scrub typhus IgM, Weil Felix test, Brucella antibody and viral markers (HIV, HBsAg and HCV) were negative. Urine routine was within normal limits. Urine and blood cultures were sterile (). HbA1c was 6%. ACE level was elevated (221 U/L). Serum calcium levels were high which were managed with saline diuresis and calcitonin injection. MRI pituitary was done to rule out granulomatous hypophysitis. MRI was suggestive of pituitary macroadenoma. Vasculitis markers including C-ANCA, P-ANCA were negative. Patient condition however deteriorated rapidly and he developed breathing difficulty with fall in blood pressure after which he was shifted to ICU and ventilated. In view of unexplained fever a bone marrow aspiration and biopsy were planned.
Bone marrow aspirate revealed presence of intracellular budding yeast forms within histiocytes and also extracellularly. They were 2–4 µm in diameter and had pseudocapsule (). Gomori silver methanamine stain highlighted these organisms (). Morphological findings were diagnostic of histoplasmosis.
Chest X-ray showed bilateral heterogenous haziness with reticulo-nodular pattern. For further evaluation, HRCT thorax was done, which was suggestive of bilateral pleural effusion, extensive emphysematous changes with few mediastinal lymph nodes largest being 1.5 cm in diameter (). CD4 and CD8 T cell counts were within normal limits.
With a clinical diagnosis of disseminated histopalasmosis patient was started on IV amphotericin B. Aggressive management was continued. On 10th day of admission patient went into asystole and expired. |
pmc-6522073-1 | Patient 1 is a severely affected 32-year-old female with a R364W mutation in MFN2. She had normal early developmental milestones and began walking independently at 8 months of age. Her parents first noted mobility and balance difficulties at 2 years 7 months of age. She could never ride a bicycle. She has significant problems with fine motor activity of both hands and has been unable to cut food by herself since childhood. She requires a pedestal walker and long leg braces to ambulate. Her voice has been ‘hoarse’ since age 16, she has documented vocal cord paralysis and develops shortness of breath after speaking for several minutes. On neurological examination, she has weakness in biceps and triceps muscles in her upper extremities and no movements in her intrinsic hand muscles, wrist extensors or wrist flexors. In her lower extremities she has trace movements of her hamstrings and no movements of her quadriceps, anterior tibialis, gastrocnemius or intrinsic foot muscles. Small fiber sensory modalities, such as pin prick or light touch, are essentially normal, with only a mild decrease to pin prick on her right great toe. Large fiber sensory modalities are profoundly abnormal, as she was unable to detect vibration with a Rydell tuning fork at her toes, ankles, knees and fingers. Joint position was absent at her toes and left ankle, and reduced at both knees. Compound muscle action potential (CMAP) and sensory nerve action potential (SNAP) amplitudes were unobtainable except for a markedly reduced axillar nerve CMAP. Her CMT Neuropathy score was in the severe range of 28 out of 36 (). |
pmc-6522073-2 | Patient 2 is a 62-year-old man with a mild clinical presentation of a M376V mutation in MFN2 that has been described in detail (). In brief, he developed progressive bilateral weakness of his feet and legs, which began at age 11. This was associated with gradual clawing of his feet, bilateral hand weakness, bilateral mild numbness of his hands and feet and foot pain. No bladder or bowel disturbance was reported. His sister, father and paternal grandmother also had a similar clinical presentation, suggesting autosomal dominant inheritance. On examination his cranial nerves were normal. He had a Medical Research Council (MRC) grade 4/5 weakness and wasting of the intrinsic muscles of the hand. He also had bilateral pes cavus, wasting of the calf muscles and MRC grade 4/5 weakness of hip and knee flexion and extension, and 3/5 weakness in the feet. Achilles tendon reflexes were absent but the remaining deep tendon reflexes were normal, with downgoing plantar responses. Mild sensory loss to pinprick was present below the elbows and knees. Vibration sensation was reduced below the ankles, proprioception was normal throughout and Romberg test was negative. No cerebellar dysfunction was detected. He had a high stepping gait. |
pmc-6522073-3 | Patient 3 is a 43-year-old female with a mild clinical phenotype and a W740S mutation in MFN2. Her early milestones were on time and she participated in all normal activities as a child, although she was a slow runner. She could ride a bicycle and ice skate, though not well because of balance. At her recent visit she noted decreased ability to feel touch from her toes to above her ankles and that she could no longer wear low-heeled shoes. She was not wearing ankle support although she felt unstable walking. She had no problems with fine motor function with her hands for activities, such as buttoning clothes, fastening jewelry or cutting food. She noted some difficulty in projecting her voice loudly. All muscles evaluated in both upper and lower extremities were graded as full strength (5/5) on neurological examination. Sensory examination revealed a mild reduction to pin prick and light touch sensation at her toes and decreased but present vibratory and position sense at her great toes. Her gait was judged to be normal except that she could not walk on her heels. Nerve conduction studies revealed reduced peroneal CMAP, absent sural and reduced median SNAP amplitudes, but were otherwise normal. CMT NS was 7 out of 36, in the mild range. |
pmc-6522109-1 | The patient, a 53-year-old white woman, sought the stomatology service with chief complaint of “dark stains in the mouth” (SIP) that had appeared approximately one year previously. On physical intraoral exam, presence of brownish and blackish macula with a smooth, non-ulcerated surface was observed, localized in the maxillary right gingival mucosa, and on the internal mucosa of the upper lip (Fig. ). Patient presented no black stains on the skin, denied use of medications, and had no associated systemic disease. She reported being an ex-smoker since a year ago. Based on clinical findings, diagnostic hypotheses were melanocytic macula or nevus, and all the pre-operative exams requested were found to be normal. After incisional biopsy of the lesion in the maxillary anterior gingival region, microscopic findings revealed a fragment covered with parakeratinized stratified pavimentous epithelium, exhibiting acanthosis and elongated epithelial projections. In the basal layer and more superior layers, the presence of dentritic cells containing brownish cytoplasmic granules compatible with melanin were observed. The adjacent fibrous connective tissue exhibited subepithelial melanophages and slight mononuclear inflammatory infiltrate. These findings were consistent with OMA (Fig. ). Immunohistochemistry with S-100 revealed immunopositivity for dendritic cells disposed throughout the entire extension of the epithelium, thus confirming conclusive diagnosis of OMA (Fig. ). After two years 28 months of follow-up, the patient has presented development of other brownish and blackish macula in gingiva and upper lip. |
pmc-6522152-1 | Case 1: A 34-year-old man presented to the Moi Teaching and Referral Hospital (MTRH) in Eldoret, Kenya with a history of leaking fecal matter from a midline abdominal incision used for two laparotomies at an outside hospital. The remainder of his history was unremarkable except for the use of alcohol and tobacco. On examination, he appeared ill, pale, tachycardic and tachypneic, but was normotensive. His abdomen was distended with a midline laparotomy incision leaking copious amounts of fecal matter. His hemoglobin and hematocrit levels were low. There was a slight leukocytosis with neutrophilia and normal platelet counts. Urea, creatinine and electrolytes were within normal limits. After resuscitation, he was taken to theatre for a laparotomy, where the peritoneal cavity was found to be completely soiled with fecal matter that was leaking from two anastomotic sites from his previous surgeries. The leaking segments of gut were resected, an abdominal washout was done, and an ileostomy was fashioned. However, due to extensive bowel edema, it was not possible to achieve fascial closure and a Bogotá bag, fashioned out of a recommissioned catheter drainage bag or intravenous fluid bag, was used for TAC (). The absence of space in the ICU meant his care was to be continued in the general surgical ward. During his post-operative course, the patient underwent five re-look laparotomies with abdominal washouts for abdominal abscesses, and one instance for a colonic perforation at the hepatic flexure requiring a right colectomy. Each time, fascial closure was not feasible and a Bogotá bag was used for TAC. A central venous catheter was placed for fluid and antibiotic therapy. A Foley catheter was used to monitor urine output, and a stoma bag was used for routine stoma care. Enteral feeds were started early and maintained throughout his hospital stay, although he became cachectic, at one point weighing only 37 kilograms. His abdominal wound was dressed daily and allowed to granulate (). Despite the challenge of caring for the OA in the setting of an adjacent ileostomy, the patient did not develop an entero-atmospheric fistula. He spent a total of 121 days in hospital and was discharged after adequate weight gain, and contracture of his abdominal wound. |
pmc-6522152-2 | Case 2: A 21-year-old man with a prior history of dyspepsia presented to MTRH with a 3-day history of acute onset upper abdominal pain, accompanied by vomiting and abdominal distension. The remainder of his history was unremarkable. On examination, he was tachycardic, tachypneic, and hypotensive. His abdomen was distended, tender with guarding, and silent on auscultation. Although his blood counts were unremarkable, he had azotemia, hyponatremia, and hyperkalemia. An abdominal x-ray showed air under the right hemidiaphragm. After fluid resuscitation and correction of his electrolyte abnormalities, he was taken to theatre with a diagnosis of perforated viscus. Upon entering the peritoneal cavity, more than 2 liters of succus entericus was found emanating from a gastric wall perforation. A biopsy was taken, and an omental (Graham) patch was used to repair the defect. However, fascial closure could not be achieved owing to extensive bowel edema, and a Bogotá bag was used for TAC. The patient remained stable and a second-look laparotomy was performed 48 hours later. The gastric repair was still intact, bowel edema had subsided, and fascial closure was successful. He was discharged on a proton pump inhibitor one week later after spending a total of 10 days in the hospital. Histology was benign and the patient remained symptom free at the follow-up clinic. |
pmc-6522582-1 | A 64-year-old man who had no symptoms was diagnosed with thoracic superficial esophageal cancer that was detected by screening upper endoscopy. He had a history of hypertension. He had also been found to have a vascular abnormality (DAA) as an adult and was observed in an asymptomatic state.
Physical examinations showed no unusual findings, and the laboratory examination data, including tumor markers, such as squamous cell carcinoma-related antigen and carcinoembryonic antigen, were all within normal ranges. Chest X-ray demonstrated a widening in the upper mediastinal silhouette, reflecting the superior right aortic arch. An endoscopic examination revealed superficial esophageal cancer located in the left side of the wall in the upper thoracic esophagus and the invasion of the submucosa (Fig. ). A histological examination of biopsy specimens confirmed the presence of squamous cell carcinoma. Enhanced computed tomography showed a swollen lymph node in the right upper mediastinum, which was diagnosed as metastatic (Fig. ). No distant metastasis was detected. Computed tomography also confirmed the DAA. The right aortic arch was dominant, and the descending aorta was located at the right side of the post-mediastinum, as is common in cases of DAA (Fig. ). The patient was therefore diagnosed with upper thoracic esophageal cancer of cT1bN1M0 Stage IIB (UICC-TNM 7th) and a DAA.
He underwent neoadjuvant chemotherapy prior to sub-total esophagectomy with three-field lymphadenectomy. The neoadjuvant chemotherapy regimen was 2 courses of 5-FU (800 mg/m2) and cisplatin (80 mg/m2) every 3 weeks.
We planned to perform radical subtotal esophagectomy with three-field lymph node dissection after neoadjuvant chemotherapy. We first planned to perform cervical procedure in a supine position before the thoracic procedure in order to identify the bilateral inferior laryngeal nerves and avoid causing them injury or inducing palsy. We also planned to perform upper mediastinal lymph node dissection during this preceding procedure because the DAA was expected to interfere with upper mediastinal dissection attempted via either side of a transthoracic approach. We then planned to perform lymph node dissection via a left-thoracoscopic approach below the left aortic arch, as we worried that the right-sided descending aorta might interfere with a right-thoracic approach (Fig. ). The laparoscopic procedure was planned to be performed via an abdominal procedure in a supine position. Reconstruction would use the gastric tube pulled up via the retrosternal route with cervical esophago-gastric anastomosis.
In the preceding cervical procedure performed in a supine position, we identified the bilateral inferior laryngeal nerves, which were thought to be recurrent at each side of the aortic arch (Fig. ). After upper mediastinal dissection was performed, the left thoracoscopic procedure in a prone position was performed for middle and lower mediastinal lymph node dissection below the left aortic arch. We first confirmed that the right-sided aortic arch and descending aorta would interfere with the usual right thoracic approach (Fig. a). Upper mediastinum dissection was also deemed impossible via a bilateral thoracic approach because of the bilateral aortic arches and subclavian arteries, as expected preoperatively (Fig. a, b). Postmediastinal reconstruction also seemed impossible. The port position for the left thoracoscopic procedure was set symmetrically to our normal right thoracoscopic procedure for middle to lower mediastinal dissection, as shown in Fig. . No major anatomical findings other than those noted preoperatively were observed during the left thoracoscopic procedure. We were unable to identify where the thoracic duct ascended because of the preservation of the thoracic duct. We were also unable to confirm the details concerning both recurrent laryngeal nerves around each aortic arch.
The abdominal procedure in a supine position was performed laparoscopically with the simultaneous cervical procedure for bilateral supraclavicular lymph node dissection. Reconstruction was performed with cervical esophago-gastric tube anastomosis. The gastric tube was pulled up through a retrosternal route as planned. Three-field lymph node dissection and complete resection (R0) were achieved. The operative time was 8 h 9 min, and the total bleeding was 70 ml. No vocal cord palsy was observed on flexible laryngoscopy after the operation.
The patient’s postoperative course included minor leakage that was cured conservatively after 2 weeks, and he was discharged at postoperative day 29. The pathological diagnosis was ypT1bN0M0 Stage IA (UICC-TNM 7th edition). The patient was followed for 2 years with no signs of cancer recurrence. |
pmc-6522610-1 | A 42-year-old female patient presented with diminution of vision in the right eye for the last 5 days along with myalgia and headache. She had a history of, serology confirmed, dengue fever 7 years back. She also gave a history of two family members suffering from dengue fever for the last 3 weeks. Both were seropositive for dengue. On examination, the best-corrected visual acuity (BCVA) in the right eye was 6/24, N18 and 6/6, N6 in the left eye. Applanation tonometry recorded an intraocular pressure (IOP) of 16 mmHg in both the eyes. Slit lamp examination showed normal anterior segment in both the eyes. There were no cells in the anterior vitreous. Fundus examination of the right eye showed a clear vitreous and dilated and tortuous superotemporal vein with multiple intra-retinal hemorrhages and a patch of retinitis measuring approximately 2-disc diameter along the superotemporal arcade along with a serous detachment of the macula. (Fig. a). Left eye fundus was within normal. Fundus fluorescein angiography (FFA) showed normal arm to retina time, areas of blocked fluorescence corresponding to the retinal hemorrhages and early hypofluoresence (Fig. b) with late hyperfluorescence (Fig. c, d) along the superotemporal arcade and the left eye was within normal. Optical coherence tomography (OCT) of the right eye showed sub-foveal fluid, hyperreflectivity of the inner retinal layers with loss of architecture over the patch of retinitis (Fig. ). NS-1 antigen test for dengue virus was positive. Serology for dengue IgG was positive while it was negative for Chikungunya, West Nile virus, and yellow fever. Dengue IgG: IgM ratio was 1.8, suggestive of secondary dengue infection.
A clinical diagnosis of dengue retinitis was made, and the patient was started on oral corticosteroids (1 mg/kg). At 4 weeks follow-up, the BCVA in the right eye was 6/6,N6. Fundus examination of the right eye showed resolving retinal hemorrhages and retinitis patch (Fig. b). The patient was advised to continue oral steroids in tapering dose and was asked to review after 1 month. Oral steroids were given for a total of 6 weeks in tapering dose. Follow-up at 2 months showed further improvement in retinitis (Fig. c). OCT of the right eye showed a decrease in the thickness of the inner retinal layers and resolving edema (Fig. ). |
pmc-6522902-1 | A 33-year-old healthy man presented with crushing injury to the right hand caused by a conveyor machine. A contact burn and crush injury in his right dorsal hand were noted. After escharotomy and debridement, a 13 × 7 cm2 skin defect in the dorsal first to third metacarpal area, intrinsic muscle loss, extensor tendon rupture, and bone exposure were noted.
We used a 15 × 10 cm2 free MSAP flap (number of perforators: 2, 10 cm & 11 cm to popliteal crease; length of pedicle: 11 cm) from his left leg for defect reconstruction. An end-to-end microanastomosis was successfully performed to join the radial vessels with the medial sural artery and its venae comitantes. A palmaris longus tendon from the right hand was grafted for extensor pollicis longus and third extensor digitorum communis tendon reconstruction. The donor site was covered with a split-thickness skin graft (STSG), approximately 180 cm2, from his ipsilateral thigh. Negative-pressure wound therapy (NPWT) was then applied to his donor site postoperatively.
However, five days after the flap reconstruction surgery, necrosis of the medial head of gastrocnemius muscle and abscess at the donor site were noted. The overlying skin graft was also lost (). Therefore, necrotic muscle and tissue were debrided twice, and the NPWT was re-applied. After the wound had well granulated (), the defect was covered with STSG, approximately 140 cm2 from his left thigh, for the second time. NPWT was used for 3 days postoperatively ().
In the outpatient follow-up, the wound healed well 5 weeks after the second STSG coverage. The patient reported no altered sensation at the donor site and had no gait problems. |
pmc-6522902-2 | A 45-year-old man with a medical history of coronary artery disease, hypertension, and type II diabetes mellitus was diagnosed with right buccal squamous cell carcinoma (cT3N1Mb, stage III). After wide excision, a 12 × 9 cm2 MSAP flap (number of perforators: 2, 8 cm & 12 cm to popliteal crease; length of pedicle: 13 cm) was harvested for reconstruction. The medial sural artery was anastomosed to the right superior thyroid artery in an end-to-end manner, and the concomitant vein was anastomosed to the right internal jugular vein by end-to-side anastomosis. The donor site was covered with STSG, approximately 150 cm2, from his ipsilateral thigh.
However, poor healing of the skin graft at the donor site was noted 9 days later with underlying gastrocnemius medial head muscle necrosis (). Debridement was then performed, and the wound was allowed to heal by secondary intention owing to its small defect size. Two months after the debridement, the wound healed well. The patient had no paresthaesia at the donor site or problem walking. |
pmc-6522979-1 | The patient was a 74-year-old man with the chief complaint of precordial erythema.
He had a history of hypertension, hyperlipidaemia, and appendicitis.
He had developed aortic dissection of Stanford type B in August 2012.
He was followed up conservatively in the outpatient department; however, the dissection diameter gradually increased. He was introduced to our cardiovascular department for surgery in July 2016.
Hemiarch replacement and open stent grafting were performed by a cardiac surgeon in August 2016.
After surgery, he was admitted to the intensive care unit and was extubated on the 4th day. Erythema developed at the precordial operation scar on the 24th day after surgery, and thus, he was introduced to our plastic surgery department.
Erythema was noted at the precordial operation scar ().
His blood test results were as follows: white blood cell count, 6370/µL; haemoglobin level, 0.2 g/dL; platelet count, 20.3 × 104/µL; aspartate aminotransferase/alanine aminotransferase level, 29/36 U/L; blood urea nitrogen/creatinine level, 24.3/0.77 mg/dL; TP level, 7.4 g/dL, albumin level, 2.5 g/dL; and C-reactive protein level, 5.65 mg/dL. On computed tomography, ablation of the sternum and liquid retention at the sternum were noted ().
Debridement was performed under general anaesthesia 3 days after introduction to our department. All wires, a sequestrum, and sphacelus were removed surgically, resulting in the exposure of the mediastinum and artificial blood vessel
As the infection sign of the wound was strong, we washed the wound with a large amount of saline and left it open. After the operation, we covered the wound with a large amount of gauze and fixed the chest with a breast harness.
On the day following the operation, after the patient rose to the sitting position, a large amount of bleeding was noted at the gauze, and his systolic pressure fell to 80 mmHg. He was transferred to the operating room with rapid blood transfusion, and an emergency operation was performed for hemostasis. We found that the outer layer of the right ventricular wall had split, and arterial bleeding was seen.
Bleeding was stopped with a surgical clip, the mediastinal space was filled with the greater omentum, and the wound was closed (). After the operation, he was admitted to the intensive care unit and was placed on a respirator.
On the day following the operation, bleeding again occurred after coughing owing to sputum suction, and his systolic pressure decreased to 50 mmHg.
He was transferred to the operating room with rapid blood transfusion, and an emergency operation was again performed for hemostasis. We found that a new laceration on the right ventricular wall had penetrated into the right ventricular cavity. As the damaged wall was weak, simple suturing could not be performed. Thus, patch closure was performed with his pericardium.
After the bleeding stopped, the mediastinal space was again filled with the greater omentum; however, the wound could not be closed because of swelling. Thus, the wound was covered with a Gore-Tex sheet. The patient received 20 units of red blood cells, 24 units of fresh frozen plasma, and 20 units of platelet concentrate in total. The wire and sequestrum obtained during debridement were cultured; however, bacteria were not detected.
The upper half of the greater omentum showed necrosis after the second hemostasis operation, and we removed the necrotic part surgically on the 14th day after the operation (). After removal, the artificial blood vessel was greatly exposed (). We later washed the wound with saline (500–1000 mLwashing) and covered the wound with iodoform dressing or silver dressing twice a day. However, the infection sign did not disappear. Thus, we performed NPWT-CI according to the method reported previously () []. NPWT-CI was performed for 31 days with a pressure setting of 75–100 mmHg and saline use of 2 L/day. The infection sign gradually reduced, and wound closure was planned as the back of the artificial blood vessel appeared buried with granulation tissue. During NPWT-CI, bacteria were not detected three times.
After debridement, the right pectoralis major muscle was separated with a humeral adhesion portion and was turned over to fill the cavity around the artificial blood vessel. The dead space was filled with the greater omentum, which remained in the caudalis, and a left pectoralis major advancement muscle flap was used to close the wound (). He visited our hospital on foot for 6 months after the operation and did not show recurrence (). |
pmc-6522990-1 | The first patient was a 72-yr-old male diagnosed with MF 2003. He had previously received radiotherapy with kilovoltage x-ray on several occasions and had also been treated with PUVA + Methotrexate, Neotigason, and Targretin. At the time of TSI he had patches and plaques covering more than 10% of the body surface. |
pmc-6522990-2 | Patient 2 was a 43-yr-old female diagnosed with MF in 2007. She had been treated with TSEBT in Cairo in 2008, 32 Gy in 24F and she had also been given 35 treatments on different lesions with kV x-ray. She had received systemic therapies with Interpheron, Tagretin, Neotigasone, and Methotrexate. At the time of treatment, she had patches and plaques covering more than 10% of the body surface. The TSI treatment was followed by a haploidentical allogenic bone marrow transplant with her 18-yr-old daughter as donor 3 weeks after the last fraction. |
pmc-6524007-1 | We report a case of a three-week-old female with classical galactosemia who presented with Group B Streptococcus (GBS) meningitis and acute liver failure (ALF) []. She was born at 39 weeks of gestation, by cesarean section for maternal indication (uterine scar). She presented premature rupture of membranes for 30 h. The pregnancy was normal, and it was periodically monitored at the local hospital. In the third trimester of pregnancy, the mother had two episodes of vulvovaginitis treated with local antibiotics. There was no consanguinity of the parents and her family has no history of inherited disease.
At birth, the baby’s weight was 3700 g, height was 50 cm and Apgar score was 10. She presented intense jaundice on the second day of life for which she received several phototherapy sessions. She started breastfeeding on her third day of life. Six days after birth, the mother and child were discharged from the regional hospital. A few days later, she became lethargic, with intense jaundice and signs of dehydration. She was initially admitted to the Neonatology Department, presenting jaundice, hepatosplenomegaly, anemia, thrombocytopenia, and high level of bilirubin levels (total bilirubin 27.84 mg/dL, conjugated bilirubin 8.68 mg/dL). Her acute-phase reactants had increased, and blood culture and culture from the cerebrospinal fluid (CSF) were positive for GBS. Cerebral magnetic resonance imaging (MRI) described specific meningitis lesions and cerebral edema. She received antibiotic treatment (ampicillin associated with gentamycin, then meropenem associated with vancomycin), fluconazole intravenous, albumin intravenous infusion, and erythrocyte transfusion (due to severe anemia). Due to the severe evolution with aggravating liver disease (INR 1.6, not corrected with vitamin K), after a few days, she was suspected of an inborn error of metabolism. Urine was collected for rapid urinary nuclear magnetic resonance (NMR) spectroscopy, which was performed with our adapted protocol previously described [,] for several metabolic studies using a Bruker Avance III 400 MHz spectrometer, equipped with gradients on the z-axis. The one-step-blood-ammonia-measurement (using the micro diffusion method with reflection registration at λ 635 nm) identified an increased value of 177 µg/dL (normal values for ammonia using this method are less than 54 µg/dL). According to the literature, these moderate increased values were considered just secondary modifications of hepatic dysfunctions, and after a few hours, the results of the urinary NMR spectroscopy showed highly elevated concentrations of galactose (79,839 mmol/mol creat.) and galactitol (41,734 mmol/mol creat.). The patient was transferred to our pediatric hospital (2nd Pediatric Clinic, Cluj-Napoca, Romania) with signs of encephalopathy (second degree coma), jaundice, hepatosplenomegaly (liver at 4 cm, spleen at 3 cm below costal margin), ascites, petechiae and bleeding at the sites of venous puncture. The initial laboratory parameters in our unit revealed increased transaminases (AST 128 U/L, ALT 57 U/L), high bilirubin levels (total bilirubin 20.19 mg/dL, and increased conjugated bilirubin 15.65 mg/dL), hypoalbuminemia (2.6 g/dL), high ferritin level (2,156 ng/mL) and prolonged prothrombin time (23 s) with INR 2.8. She also had moderate hemolytic anemia (hemoglobin 9.2 g/dL) with negative Combs test, leukocytosis (23,500 /mm³ with neutrophilia 89%) and thrombocytopenia (56,000/mm³). Unfortunately, erythrocyte transfusion was given before the suspicion of galactosemia and the measurement of GALT enzyme activity in erythrocytes was not performed. The ophthalmologic examination revealed “oil drop” cataract, which is common in classic galactosemia []. Genetic testing for GALT gene confirmed the presence of two mutations as compound heterozygous status: one at exon 6 of the GALT gene, c.563 A>G [p. Q188R] and another one on exon 10 (not yet described in galactosemia), c. 910 C>T. GALT gene was analyzed by PCR and bidirectional sequencing of the whole coding region and intron-exon splicing junctions. MLPA was used for detection of the deletions and duplications of one or more exons. The obtained sequences were compared with the sequence of reference ENST00000378842. The genetic test of the parents was not performed due to their refusal.
Based on the clinical presentation and laboratory parameters, the final diagnosis made was classic galactosemia with GBS meningitis and ALF. She was treated with high doses of antibiotics (meropenem associated with vancomycin), intravenous immunoglobulins (IVIG), albumin intravenous infusion, furosemide, and spironolactone. As she had presented with cerebral edema, she received mannitol, dexamethasone and furosemide. Her diet was immediately changed from breastfeeding to exclusive parenteral nutrition with glucose/arginine infusion (in the first days in our clinic), and then enteral nutrition with soy milk.
Two weeks later, her clinical features and laboratory parameters improved considerably. The level of galactose and galactitol excretion in urine decreased. Recent follow up, at two years of age, showed normal physical and neurological development, normal laboratory parameters, and the absence of cataract (on ophthalmologic slit-lamp examination). |
pmc-6524023-1 | A 23-year-old woman was urgently hospitalized due to the acute onset of headaches, nausea, and vomiting lasting over 5 days, with left-side extremity paraesthesia. Two weeks prior to the hospitalisation, the patient underwent a C-section in her 31st week due to foetal hypoxia. The baby was safely delivered. Prior to that, the patient was monitored by ultrasound due to the absence of detectable vascularization in several limited regions within the placental tissue, with the diameters of 35, 19 and 11 mm. She was administered antibiotics (amoxicillin + clavulanic acid) postpartum due to a mild temperature, but her temperature was not high enough to indicate infection. Two days prior to hospitalisation she was urgently screened neurologically because of a 3-day long headache. At that moment, she was without neurological deficits. The occipital headache was transiently lower in intensity after she received analgesic therapy. On the day of the admission, the patient had an intermittent short-term numbness in the left hand, left leg, and she reported she once felt numbness on the left side of her face.
Neurological examination indicated mild palsy of the left hand. A confrontation visual field test detected inferior homonymous quadrantanopia. Her gait was normal, not paretic. The patient was afebrile. Meningeal signs were negative. Blood pressure was 120/85 mmHg. Laboratory values upon admission are presented in .
During the last period of the pregnancy, reduced levels of free protein S (fPS) antigen (0.43) (1), and protein C path (or protein C global or activated protein C resistance) (0.77 normalized ratios (reference range >0.80)) were detected. There was no mutation in the genetic markers for thrombophilia (Factor V Leiden, Prothrombin MTHFR and PAI-1). Pathohistological tests of the placenta conducted after birth indicated placental infarction.
The acute thrombosis of the right transverse sinus, the right sigmoid sinus, and the sagittal sinus (A) were detected by urgent computed tomography (CT) of the head. The CT did not detect brain oedema or any signs of focal lesion. Immediate magnetic resonance imaging (MRI) of the brain was performed and the results were normal. Magnetic resonance venography (MRV) confirmed the absence of flow in the right transverse and right sigmoid and sagittal sinuses as a consequence of thrombosis (B).
Immediately following neuroimaging detection of a CVST, low-molecular-weight heparin therapy was administered (dalteparin subcutaneously twice daily at 7500 IU), followed by analgesics and folic acid substitution therapy. As recommended by the infectious diseases specialist, antibiotic therapy (ceftriaxone and vancomycin) was administered for a total of 12 days. Fundoscopic examination detected initial bilateral optic disc oedema, without visible peripapillary or retinal bleeding. The otorhinolaryngologic examination excluded any infectious diseases in the respective area. From the second day of the hospitalisation onward, the patient did not report paraesthesia or sight deficit. Electroencephalogram during the interictal period detected generalized cerebral dysrhythmia without lateralization. The symptomatology of increased ICP and papilloedema continued, which lead to introducing acetazolamide on the eighth day of the hospitalisation at an overall daily dose of 500 mg, and for a few days, mannitol 10% was given intravenously. Eight days after the initial examination, fundoscopy findings and optical coherence tomography (OCT) indicated worsening of bilateral papilloedema. Voluminous veins and flame-shaped haemorrhages were noticed at the edges of the right optic nerve papilla as well as one larger flame-shaped haemorrhage on the left temporal side.
At the beginning of the second week of the hospitalisation, the patient reported horizontal diplopia when looking left, with visible left lateral rectus muscle insufficiency (A). Five days later, we noticed a deficit in the function of the right lateral rectus muscle (B). At that point, the patient reported double vision in both horizontal directions. The Hess–Lancaster test confirmed weakness of both lateral rectus muscles (C). Visual field examination performed according to Goldmann demonstrated normal findings.
In the third week, there was a significant reduction and then a complete cessation of headaches. A follow-up MRV was performed 18 days after the initial one, and revealed partial recanalization of the dural venous sinus thrombosis (A,B).
In the fourth week of treatment, the recovery of the function of the left lateral rectus muscle was noticed at the same time as the intensity of the left-sided horizontal diplopia receded and ceased. Ten days later, the recovery of the right rectus muscle function was noticed and the horizontal diplopia completely ceased. The results of the follow-up Hess–Lancaster test were normal. Outpatient anticoagulant therapy was continued with warfarin.
Two months after the beginning of the treatment, fundoscopy results and OCT recorded complete withdrawal of the papilloedema. At the follow-up neurological examination three months after the onset of the disease, the patient was without neurological symptoms and without a bulb motility disorder. The follow-up MRV, three and a half months after the initial one, indicated further significant regression of the CVST. Along with the clear findings of the sagittal sinus, there was minimal marginal contour irregularity in the right transverse sinus and minor residual strip defects in the right sigmoid sinus (). Six months after CVST, warfarin therapy continued and the fPS antigen level was persistently low at 0.36 (1).
The study protocol was approved by the institutional review board, with the ethical code number R2-1281/2019. |
pmc-6524220-1 | A 39-year-old Japanese woman reported a visual field defect of 2-years duration in her right eye but denied night or day blindness and photopsia. She had a history of high-grade cervical dysplasia of her uterus and no history of long-term medication use. The family history was unremarkable and the parental marriage was not consanguineous.
The patient provided informed consent before the following examinations were performed: a routine ophthalmologic examination, static visual field testing (Humphrey Field Analyzer 3, Carl Zeiss Meditec, Jena, Germany), dynamic visual field testing (Goldmann perimetry, Haag-Streit, Köniz, Switzerland), color vision testing (Ishihara test, Handaya, Tokyo, Japan), full-field ERG (ff-ERG) (LE-3000, Tomey, Tokyo, Japan), SS-OCT (DRI OCT Triton Plus, Topcon, Tokyo, Japan), and fundus autofluorescence (FAF) (DRI OCT Triton Plus).
The best-corrected visual acuity was 20/20 bilaterally with the spherical equivalent of − 4.0 diopters (D) in the right eye and − 7.0 D in the left eye. Anterior segment and funduscopic examinations showed no abnormalities bilaterally (Fig. a, b). Color vision testing and FAF of each eye showed no abnormalities. Static visual field test showed a relative paracentral scotoma with central sparing in the right eye (Fig. a). Dynamic visual field testing showed the scotoma, including the Mariotte blind spot, except for the central visual field (Fig. b).
The horizontal three-dimensional (3D) macular analysis by SS-OCT showed retinal thinning in the parafoveal inferior area and perifoveal nasal, inferior, and temporal areas in the right eye but no thinning of the macular retina in the left eye (Fig. a, b). The horizontal SS-OCT scans showed an unclear interdigitation zone (IZ) throughout the posterior pole except for the foveal zone in the right eye (Fig. c). The vertical SS-OCT scans showed that the IZ was absent throughout the posterior pole except for the foveal zone in the right eye (Fig. e). The vertical 3D macular SS-OCT analysis showed thinning of the GCL and IPL corresponding to the region of the IZ defect only in the right eye (Fig. b). The choroid in the left eye also was thinner compared with the right eye due to high myopia.
The ff-ERG showed almost normal rod responses bilaterally (Fig. a). The single-flash ERG responses were somewhat lower in the right eye (Fig. b). However, the cone response and flicker ERG were decreased markedly only in the right eye (Fig. c, d). We regularly examined this patient using ERG for 6 years after the first visit. The cone responses decreased by 40.8% and the flicker ERGs decreased by 55% at the final visit compared to the initial ERG recording of 100%. However, the ERG of the left eye was unchanged.
Based on this multimodal analysis, we diagnosed this case as unilateral peripheral cone dysfunction syndrome. |
pmc-6524249-1 | We report a case of 53-year-old Caucasian man with a history of hepatitis, HCV genotype 1-related. He referred to our Dermatology Department for the occurrence of palpable purpura. Erythematous maculae and papules were widespread on trunk and lower extremities associated with pain, burning and itching (Fig. , A and B). The patient referred that the first appearance of the dermatoses was about one month from the beginning of the therapy for his hepatitis. The patient was ineligible for the treatment with IFN, so he began a 24-weeks course of SOF 400 mg/daily for 24 weeks. Skin lesions were evaluated by dermoscopy (Dermlite Foto, 3Gen, Dana Point, California, USA) and the examination revealed a polymorphous vascular pattern, surrounded by a subtle erythematous border. A 4-mm punch biopsy of a lesion from the leg was performed. Microscopically, at low magnification, skin showed perivascular inflammatory infiltrate in papillary and mild dermis associated to erythrocyte extravasation and mild dermal oedema (Fig. A). The epidermis showed only focal spongiosis and basal vacuolization. At higher magnification, the inflammatory cells were predominantly composed by small lymphocytes, histiocytes and eosinophils around and within capillary vessel walls with endothelial swelling (Fig. B). The eosinophils were more that 5 per 10 high-power fields. According to the histological aspect, a diagnosis of drug-induces lymphocytic small vessel vasculitis was expressed. In fact, one of the main cause of increased tissue eosinophil count is the hypersensitivity reaction to a drug or immunotherapic agent, as described by Bahrami et al. []
Topical corticosteroids and emollient were prescribed to the patient, but, after an initial improvement, he came again to our observation for relapse and worsening of the dermatoses.
Blood analysis revealed no substantial alterations, excepting for 1.20% of crioglobuline (normal range 0.00–0.40) and anti-nucleus antibodies (ANA) positivity 1:80. No positivity was found for anti-neutrophil cytoplasmic antibodies (ANCA).
It was our opinion that the therapy triggered a vasculitis-like drug eruption. Based on our clinical observations, we assumed a causal link between skin lesions and medication, as it was demonstrated by the resolution of vasculitic lesions one month after the discontinuation of the treatment (Fig. , C and D). |
pmc-6524267-1 | A 75-year-old man suffered from abdominal pain and melena. Emergency gastroscopy observed large curvature, posterior wall and small curvature of the antrum. Huge flat uplift occupying lesions were identified, with worm-like erosion edges, uneven bottom, visible bleeding from blood vessels and blood clots (Fig. [green frame]; Fig. .a.b). An upholstery lesion (in the maximum diameter of 1.5 cm) with white protrusions was observed close to the anterior wall of small curve. Whole body fluorine-18 fluorodeoxyglucose (18F–FDG) positron emission tomography/computed tomography (PET/CT) identified a hypodense mass in segment 6 of liver. Intense 18F–FDG distribution obtained a maximum standardized uptake value (SUV) of 3.5(Fig. , c-e). After MDT consultation, R0 resection might be impossible to achieve. Palliative chemotherapy was relatively contraindicated due to a high risk of gastrointestinal bleeding. The patient underwent palliative gastrectomy to prevent from bleeding and perforation. No liver metastatic lesion was resected. On microscopic examination, the primary tumor was identified as a well to mixed differentiated gastric adenocarcinoma (75% papillary adenocarcinoma and 25% moderately differentiated tubular adenocarcinoma), which had invaded subserosa layer. Five of 35 lymph nodes were positive for metastases, without venous or lymphatic vasculature invasion. This GC tumor fulfilled the criteria of stage IVa (pT3N2M1), based on the American Joint Committee on Cancer (AJCC) TNM staging classification for carcinoma of the stomach (7th edition, 2012) []. This tumor was negative for HER2 amplification.
In the first month post-operation, this patient was transferred to our hospital for comprehensive evaluation. He had received 5 cycles of mFOLFOX6 (5-fluorouracil/folinic acid, oxaliplatin) regimen as the first-line chemotherapy. Liver metastatic lesions were shrunk, so that the efficacy was assessed as partial response (PR) (Fig. a). Then the patient received cryoablation with argon and helium on hepatic metastases; subsequently received post-operational chemotherapy (mFOLFOX6 protocol) for 3 cycles. The efficacy was evaluated as stable disease (SD) (Fig. b). Chemotherapy was stop ped due to grade3 neutropenia. The patient was regularly followed-up afterwards. Seven months after the cessation of treatment, CT scan identified new lesions in the lungs and liver (Fig. [red frame]; Fig. a, b, c). The patient started to receive 3 cycles of Paclitaxel plus S-1 (second-line) chemotherapy since April 2015, however, the short-term effect was assessed as progressive disease (PD)(Fig. d, e).Then the patient received mFOLFOX6 chemotherapy for 7 cycles, with the efficacy defined as SD. Afterwards, pulmonary and hepatic metastatic lesions were treated with cryoablation separately (Fig. ). The patient received another 3 cycles of mFOLFOX6 regimen after cryoablation, undergoing regular observation. Six months later, new metastases were identified and the patient received FOLFIRI regimen chemotherapy for 9 cycles. The efficacy was evaluated as PD. At this point, HER-2 gene amplification was identified using peripheral blood sample (Fig. ). During the entire treatment period, the patient’s CA19–9 and CEA were basically maintained at normal levels (Additional file : Figure S1). On August 30, 2016, the patient was enrolled into a randomized, double-blind, placebo-controlled trial of Anlotinib, which was designed for advanced GC as second-line therapy. After taking 6 cycles of Anlotinib (12/10 mg, d1–14, qd, po, q3w), the efficacy was evaluated as SD (Fig. ). Treatment-related proteinuria occurred during the second cycle. After the 8th cycle, the efficacy was evaluated as PD. The patient withdrew from the clinical trial on March 17, 2017. On July 24, 2017, the patient died and his overall survival time was 39 months. |
pmc-6524270-1 | Our patient is a 52-year-old African-American man with no prior abdominal surgeries and a past medical history of MM and venous thromboembolism who presented with a 6-day history of nausea, vomiting, and abdominal pain. He had not passed flatus for 24 hours prior to presentation. He did not have fever, chills, or malaise. He was seen by his oncologist and an abdominal X-ray was done; the abdominal X-ray was concerning for SBO for which reason he was subsequently admitted and general surgery consulted.
He had been diagnosed as having MM 4 months prior, after sustaining a pathologic left humerus fracture and was on chemotherapy as well as radiation therapy to the affected humerus. He had completed his second cycle of chemotherapy 10 days prior to presenting with signs of SBO. His chemotherapy regimen included bortezomib, lenalidomide, and dexamethasone.
His MM was diagnosed with a bone marrow biopsy that showed 25% clonal plasma cells and Kappa light chain restricted. Serum K/L was 222 and fluorescence in situ hybridization (FISH) myeloma cytogenetic analysis detected a 17p13 deletion in 30% of cells and a t(14:16) re-arrangement was detected in 5.7% of cells. These cytogenetic changes are both identified as high-risk features in the Mayo Stratification of Myeloma and Risk-Adapted Therapy (mSMART) molecular risk classification system. He had stage II disease by the International Staging System (ISS) of MM, with serum beta-2 microglobulin of 4.7 mg/L and serum albumin of 4.5 g/dl.
His other medical conditions include hypertension, obesity, sleep apnea, vitamin D deficiency, and pulmonary embolism diagnosed 1 month after his diagnosis of MM, for which he was on therapeutic enoxaparin. He had no prior abdominal operation. His family history is significant for breast cancer in his sister.
His vital signs were normal and an abdominal examination revealed tenderness in the right lower quadrant with mild guarding. A contrast-enhanced computed tomography (CT) scan of his abdomen showed a 5.4 cm soft tissue mass involving a loop of distal ileum causing dilation of proximal ileum (Fig. ). There was also a fluid collection with layering contrast and air in the right peritoneum consistent with a bowel perforation.
He was taken to the operating room for exploration and underwent a laparoscopic small bowel resection with primary anastomosis. A small intussusception was noted intraoperatively. He had an uneventful postoperative course and was discharged on postoperative day 6. A small-bowel mass at the intussusception was confirmed as plasmacytomas on pathology.
He was seen in the surgical clinic 2 weeks postoperatively, doing well. His midline surgical scar was healing well, without any signs of infection. He continued to follow up with his oncologist and his chemotherapy regimen was switched to daratumumab, pomalidomide, and dexamethasone because of his progressive disease (intestinal EMP) despite his initial chemotherapy regimen. He was referred to a tertiary facility because of the aggressive nature of his disease. He developed multiple new skin masses and, subsequently, weakness and sensory changes in bilateral lower extremity with magnetic resonance imaging (MRI) of his spine demonstrating spinal cord compression from T4–T6 level secondary to epidural extension of MM. Despite further aggressive chemotherapy regimen at tertiary facility, including bortezomib, dexamethasone, thalidomide, cisplatin, adriamycin, and cyclophosphamide, he developed worsening and widespread disease with metabolically active masses on positron emission tomography/CT involving right orbit, lungs, liver, spleen, bilateral adrenal glands, and multiple lymph nodes including mediastinal nodes. His clinical and functional status progressively declined, and he died 11 months following his initial diagnosis of MM. |
pmc-6524294-1 | A 37-year-old male with past medical history significant for asthma, anxiety, and former tobacco use, presented to our emergency department after experiencing two episodes of syncope while at work. He was employed outdoors in a heavy manual labor industry. He and his co-workers have been frequently bitten by ticks at work in the past. Initial vital signs on admission were significant for bradycardia, with a heart rate of 57 bpm, and the ECG showed sinus bradycardia with first degree AV block, with a PR interval of 480 ms (NL 120–200 ms) (Fig. ). Physical exam was unremarkable, except for hypopigmentation of fingers. Serum ALT level was elevated 115 (NL 12–78). Other labs on admission were all within normal including serum troponin. Further workup included a normal CT scan of head, a vascular study of the carotid vessels that showed minor right sided carotid stenosis of < 50%, and an echocardiogram that was unremarkable,except for mildly increased LV wall thickness with an EF of 60%. An exercise stress test done by the cardiologist, was terminated early. The patient developed dyspnea, and his ECG demonstrated progression of first-degree AV block to high degree AV block (Fig. ). Once back at rest, the patient’s high degree AV block reverted to first degree AV block. He had a similar episode while walking in the hallway wearing a Holter monitor, on day 5, also reversible with rest. He was transferred to the critical care unit for close monitoring and treated with ceftriaxone 2G iv once daily and doxycycline 100 mg orally twice daily. The first-degree AV block improved with a gradual decrease in the PR interval (Table ). His Lyme serology (Western Blot) was strongly positive (Table ).
The heart block significantly improved to 270 ms by day 7 of treatment. He was discharged and continued outpatient IV Ceftriaxone for 3 weeks. After completing treatment, the patient had a normal ECG with PR interval of 178 (Fig. ) on day 16 and an uneventful exercise stress test. He returned towork without limitations, doing manual labor. He has been symptom free for 2 years. Now he uses tick-repellents at work. |
pmc-6524295-1 | A 27-year-old Chinese male was defined as the proband, and his family members were investigated. The chief complaint of the proband was feeling weak for 6 days. His parents were first cousins and both of them were healthy. The proband’s fraternal twin did not display any biochemistry or imaging abnormalities. Six years previously, the proband’s elder sister died due to kidney failure at 23 years of age. The family tree is depicted in Fig. .
The clinical, biological and radiological features of the proband and his healthy fraternal twin are presented in Table . Briefly, the height of the proband (159 cm) was shorter than that of the average adult male. Laboratory investigations revealed significant elevations in the levels of serum creatinine (420.0 μmol/L), cystatin-C (2.83 mg/L) and parathyroid hormone (83.38 pmol/L). The estimated glomerular filtration rate was 14.84 ml/min.1.73m2. Ultrasound scans showed the size of right kidney size to be 9.1 × 4.3 × 4.2 cm and that of the left kidney size to be 9.0 × 3.7 × 3.3 cm. Both kidneys were of nearly normal size and each had a cortical microcyst (less than 1.5 cm) respectively. Blood pressure, urinalysis, serum liver enzyme levels, lipid metabolism makers, serum uric acid level, electrolytes and immune system makers were normal. Computed tomography scans revealed normal abdominal and cerebral structures. Renal biopsy was not performed because of deteriorated kidney function. The proband denied any medical history involving urinary, visual or auditory systems, including polydipsia, polyuria and secondary enuresis. After follow up for one year with treatments including medicinal charcoal tablets and rocaltrol, the serum creatinine level was 414.0 μmol/L, the estimated glomerular filtration rate was 15.77 ml/min.1.73m2 and the parathyroid hormone level was 19.21 pmol/L. According to the clinical presentations and family history, genetic kidney disease was suspected and whole-exome sequencing was performed on close family members to make a molecular diagnosis.
The study protocol was conducted based on the principles of the Declaration of Helsinki. Written informed consent was obtained from all participants.
Peripheral blood samples of the proband and close family members (his parents and fraternal brother) were collected and whole-exome sequencing was performed according to standard protocols. Briefly, samples were extracted using a Qiagen genomic DNA isolation kit (Qiagen, Hilden, Germany); genomic DNA samples were sheared by sonication. The sheared genomic DNA was then hybridized with NimbleGen 2.0 probe sequence capture array Roche, () to enrich the exonic DNA (Joy Orient, China). The libraries were first tested for enrichment by qPCR and for size distribution and concentration using an Agilent Bioanalyzer 2100. The samples were then sequenced on an Illumina Hiseq2500. Two parallel reactions were done for each sample.
A novel homozygous mutation, c.2089 G > T in exon 20 of NPHP1 was identified in the proband, resulting in a nonsense alteration of p.E697X,37, which led to a truncation of 37 amino acids. Both the proband’s parents and his fraternal brother were heterozygous for this mutation. All the variants were verified by Sanger sequencing (Fig. ). The mutation was not reported previously in the public domain single-nucleotide polymorphism databases: dbSNP (), ExAC (The Exome Aggregation Consortium; ), and control exome sequencing data of 1000 ethnic Han. Moreover, another novel homozygosis mutation c.2073 C > G in exon 20 of NPHP1 was detected, resulting in p.F691 L, which was predicted to be deleterious by the Sorting Intolerant from Tolerant algorithm (SIFT; ). The proband’s parents and his fraternal brother were also heterozygous for this mutation. |
pmc-6524310-1 | A 10-year-old Caucasian girl, weighing 45 kg, underwent an endoscopic transnasal craniotomy to remove an adamantinomatous craniopharyngioma. After the apparently uneventful operation, the patient developed postoperative encephalitis, obstructive hydrocephalus, intracranial hypertension and became comatose. A ventriculoperitoneal shunt was placed to limit intracranial hypertension. The patient awoke from the coma with flaccid quadriplegia, likely due to tonsillar herniation. Since she had no spontaneous breathing activity, a tracheostomy was performed, and she was ventilated with volume controlled ventilation.
Two months thereafter, the patient was transferred to our pediatric ICU to continue the treatment and evaluate the possibility of pursuing a respiratory weaning.
Compliance of the respiratory system (0.8 ml/cmH2O/kg), PaO2-to-FiO2 ratio (490 mmHg) and a negligible alveolar dead space fraction were measured. Once mechanical support was reduced, spontaneous inspiratory efforts were observed. A maximal negative inspiratory force (NIF) of − 20 cmH2O (Servo-I ventilator, Maquet, Solna, Sweden) was recorded. In addition, a NAVA nasogastric tube (Maquet Critical Care AB, Solna, Sweden) was positioned to measure EAdi signal and to start NAVA ventilation, with the aim of improving patient-ventilator synchrony. The correct placement of the NAVA probe was carefully checked using the positioning window of the ventilator and the ECG signals [].
At a preliminary evaluation, the patient appeared poorly adapted to NAVA, even in the presence of a very high NAVA gain (5 cmH2O/μV) and a sensitive neural trigger (0.3 μV). The recorded EAdi signal, despite showing a phasic activity, had a very low amplitude.
On the contrary, she appeared well synchronized and adequately supported on PSV. We therefore decided to perform two brief (15 min) “breathing trials” to compare PSV with NAVA, in order to understand the possible clinical implications of these observations. The following ventilatory settings were applied:Pressure support ventilation with pressure support of 8 cmH2O, flow trigger sensitivity set at 4 and expiratory trigger set at 25% of peak inspiratory flow. Neurally-adjusted ventilatory assistance with NAVA gain of 5 cmH2O/μV and neural inspiratory trigger of 0.3 μV. Of note, during NAVA, inspiratory assist can also be triggered by a pneumatic signal in case of failure of the neural trigger.
A constant positive end-expiratory pressure of 4 cmH2O and fraction of inspired oxygen of 0.21 were applied throughout the clinical test. We recorded ventilatory variables (tidal volume, respiratory rate, mean airway pressure, end tidal carbon dioxide, pulse oximetry), EAdi and heart rate at 3 min intervals during both phases. A blood gas analysis of central venous blood and non-invasive blood pressure were measured at the beginning and at the end of each 15-min trial.
Table summarizes the observed results. On PSV, the patient presented stable tidal volumes, respiratory rates, minute ventilation, end-tidal and venous CO2 levels. On the contrary, when switched to NAVA, an immediate drop in tidal volume with consequent marked reduction in minute ventilation was observed. Thereafter, the patient increased the respiratory rate from 15 to 24 breaths per minute, leading to an increase in total minute ventilation, despite the reduced tidal volume. Nevertheless, end-tidal CO2 progressively increased from 49 to 55 mmHg with a corresponding increase in venous CO2 from 52 to 57 mmHg. Peripheral arterial oxygen saturation, as measured with pulse oximetry, did not change. The amplitude of the EAdi signal remained very low during both phases and it did not change significantly with the ventilation mode. Of note, during NAVA, the majority of breaths were initiated by the secondary source, i.e. by the pneumatic trigger, as the EAdi signal was frequently not able to trigger inspiration. Clinically, while the patient was well adapted to PSV, on NAVA her breathing pattern became irregular. She showed clear signs of increased work of breathing and distress, such as nasal flaring and suprasternal-intercostal retractions, mild tachycardia and hypertension.
An electromyographic study was performed and the presence of a sensory-motor polyneuropathy compatible with critical illness polyneuropathy was documented. The muscles of the head and neck showed less involvement. An involvement of the diaphragm and of the trapezius was documented, while other accessory muscles, such as the sternocleidomastoid and the intercostal muscles showed a preserved activity.
A magnetic resonance imaging of the brain and spinal cord revealed the presence of a lesion of the posterolateral region of the high spinal cord, compatible with the previous infective process and/or hypertensive damage.
One month thereafter, the patient was transferred to a long-term rehabilitation center. While the upper limbs recovered some muscular strength, she was still completely ventilator-dependent 6 months after discharge from our pediatric ICU. EAdi measurements were not repeated. |
pmc-6524313-1 | A was a 13-year-old boy referred to the inpatient unit for severe social withdrawal with school dropout since a year and a half. He had no prior psychiatric or medical history. He lived with his identical twin sister and his mother. The father had died 2 years ago from lung cancer. The twins were born prematurely at 34 weeks, but no delay in psychomotor acquisitions was reported.
Following the death of his father, A started to develop isolation and social withdrawal. Around the same period, he started playing at a construction game on his computer. The time spent in this activity increased, and the patient gave up school and other activities. Over the past year, A played 10 to 12 h per day with no period free of playing longer than 1 day. When not gaming, A was irritable, vindictive, and verbally aggressive. In addition, gaming did not involve any socializing aspects (e.g., forum or online competition). During the last 6 months, he was completely confined to his room (except for personal hygiene) spending almost all of the daytime playing the video game. All the family’s attempts to help him reduce gaming failed. The patient actively refused to meet mental health professionals, and during home visits, he stayed locked in his room.
At admission, the patient appeared to be a discrete boy. He looked sad and withdrawn with minimal verbal interaction. The speech was monotone and overly soft with many pauses and, in particular, reluctant to talk about his thoughts. A was particularly careful to pick the right word to answer questions. He expressed a pervasive feeling of hollowness and a loss of interest in his surroundings. His mood was poorly influenced by external circumstances. He described the feeling as being emotionally paralyzed rather than sadness. A reported no pessimistic thoughts or feelings of hopelessness; however, he was unable to project himself into the future and had no motivation to perform any activities other than gaming. Sleep and appetite were preserved and no delusion was reported. The diagnosis of persistent depressive disorder (F34.1) was made ().
Prior to the onset of the current depressive disorder, A experienced socio-emotional and interpersonal difficulties. He shared his emotional experiences only on rare occasions and was reluctant to seek support for basic or emotional needs. As a child he is described as frequently embarrassed in new and unfamiliar situations, with few behavioral strategies to manage his emotion. The restriction of facial and voice affect, initially interpreted as a sign of depressive mood, was reported since an early age.
During medical interviews, A’s mother presented poor emotional insight. Her voice and face expressed deep sadness, but she was reluctant to discuss her feelings. Questions about the relations between family grief, the impact on each family member, and A’s psychiatric symptoms were eluded. She never mentioned her own social phobia that we discovered long after this hospitalization. In fact, it turned out that the weekly appointments to the adolescent outpatient care service were her only source of relational contacts. About gaming, she felt helpless in monitoring the gaming use. She agreed to receive behavioral guidance but never managed to apply any suggestions. Her motivation to change the current situation at home seemed low.
A was treated with an antidepressant, a selective serotonin reuptake inhibitor (SSRI), sertraline up to 75 mg/day. In the ward, he was involved in different activities with other inpatients in view of promoting positive experiences with adults and peers. He seemed more open and talkative with the paramedical staff and with other youths than during the medical interviews. He had a weekly support group and a group for behavioral and substance-related addictive disorders. The patient started school readaptation a few hours per day.
After 4 weeks, the patient felt progressively better. During permissions at home, A is described as more dynamic and emotionally reactive. He started to enjoy usual interests with other members of the family and actively sought out friendship in planning lunch during the weekend with adolescents met at the hospital. Progressively, he spent less time playing video games (around 2 h per day) without anxiety when not playing.
Despite the clinical and functional improvement, both A and his mother seemed unable to identify external or internal factors that contributed to A’s depressive disorder and gaming misuse. They did not express any worries regarding possible relapse. For both of them, mental projections into the past or the future were nearly impossible or were unrealistic. For example, despite a year and a half without being at school, A and his mother declined all school adaptations. The patient viewed grade repetition as a source of stigmatization and refused to return to school. Further, therapeutic suggestions such as daily care intervention or individual psychotherapy were politely declined by the patient.
After discharge, the patient had regular appointments in an outpatient care structure and started in a new school. After 10 weeks, the mother contacted us to explain that her son refused to follow outpatient care, no longer attended school, and again had social withdrawal with severe gaming misuse. |
pmc-6524313-2 | B was a 15-year-old boy referred to an inpatient unit for severe disruptive behaviors after being expelled from his school. He lived with his 10-year-old younger brother and two half-brothers (aged 20 and 30 years). The parents were separated although living together. B had commonly been exposed to severe arguing and fighting between them. Both parents were unemployed. The father had an untreated alcohol addiction and the mother had no specific past psychiatric history. The family had been followed by social services since B was 3.
The patient’s pregnancy was complicated by gestational diabetes and occasional maternal alcohol intake. B was born prematurely at 35 weeks of gestation. He had a delayed onset of speech (first words at 2 years) and fine motor difficulties. At entrance in first grade, he had difficulties understanding verbal instructions and performing graphomotor activities. Distractibility and emotional dysregulation were also noted. At age 6, a Wechsler Preschool and Primary Scale of Intelligence (WPPSI-III) test found a heterogeneous functioning in normal range (Verbal IQ = 100, Performance IQ = 75). At age 7, the patient was addressed to a foster care family with a full-time inclusion in an educational facility for youths with behavioral problems. Improvement in emotional control was noted.
At age 13, B faced multiple adverse life events (incarceration of his half-brother, left foster care to return to family home, and change in the pedagogic team). He became physically aggressive against peers and adults with several rage outbreaks per day. Different medications were tried with no or partial improvement: tiapridum (a first generation antipsychotic) up to 15 mg/day, carbamazepine up to 200 mg/day, risperidone gradually increased to 4 mg/day. B was excluded from his educational facility following the aggression of a member of the educational staff. Since then, the patient has stayed at home all day. He was described as severely irritable with multi-daily outbursts of uncontrollable anger. He was verbally and physically aggressive against his parents in a context of frustration and tried to strangle a neighbor after a banal remark. During this period, B maintained his interests in his usual activities, for example, caring for animals or cooking.
He drastically increased time on his computer following school expulsion. He mostly played Role-Playing Games and First Person Shooter Games, with violent scenarios. Daily playing sessions lasted 2–6 h, occasionally during the night. He could compulsively watch online videos during several hours, either childish cartoons or violent videos of aggression. B had daily alcohol consumption usually alone of one glass of wine or a can of beer with binge-drinking sessions almost every month (i.e., 10 g of alcohol each day or 8.75 units per week on average). He explained that alcohol was a means to “calm down.” Of note, the patient was very critical of his father’s addiction problem, criticizing his father’s inability when drunk to care for him. He also had very occasional cannabis use (smoked one joint every 2 months).
During individual interviews, B was calm. He described a feeling of hostility, persisting anger and ambivalent feelings toward adults (“worry, shame and anger at the same time”). He reported being exposed to violent conflicts at home and frequently having to take care of his drunk father. Globally, he described a situation of physical and emotional neglect at home. B expressed concern about the consequences of his behavior and his future (he wished to become a cook). He was afraid of “being always angry” after leaving the hospital or that similar problems would repeat with his young brother. Sleep and appetite were preserved.
In the unit, he had few contacts with other youths. He was too clumsy to be involved in sport activities and was often rejected by the group when playing board games. He felt more comfortable with younger patients with whom he shared common interest in animals. When he felt worried, the patient sought attention from adults with provocative behaviors or threats. He could suddenly give a blow to a wall, against a window, or against a piece of furniture without any explanation.
Psychomotor assessment showed evidence of a developmental coordination disorder (F82) (): general motor and coordination test score was at 0.1 percentile, visuomotor integration test score was very low, and he had −7 standard deviations for writing abilities (). Language evaluation showed evidence of severe dyslexia (Reading disorder, F315.0) with normal to weak abilities in oral language but very deficient reading competency (). The diagnosis of disruptive mood dysregulation disorder (F34.8) in an adolescent with multiple learning disabilities (developmental coordination disorder, dyslexia, dysgraphia) was set up and explained to the patient and his parents.
The treatment with carbamazepine was discontinued and risperidone was decreased to 2 mg/day, a dose more typically used in youths with disruptive behaviors (). A benzodiazepine, diazepam, was added for its anxiolytic effect. The patient also started a psychomotor rehabilitation in the service (weekly group relaxation and individual sessions). The need for an intensive speech therapy was explained to the parents. Collaboration with social services was of main importance in this hospitalization. He was accompanied to a juvenile court session where a placement decision was set up. During the last week of the hospitalization, he visited a new residential care facility.
A major clinical improvement was observed during the hospitalization with a decrease in the behavior problems. At discharge, B no longer presented diagnostic criteria for IGD, and no specific intervention was required. Six months later, B no longer presented clinical or functional impairment. |
pmc-6524551-1 | A 52-year-old female patient with a history of rectal carcinoma underwent targeted radiotherapy on right-sided pelvic lymph node metastases (42 Gy in 21 fractions). She later developed local post-radiation retroperitoneal fibrosis with resulting ureteric stenosis. Serial oncological follow ups with 18F-FDG PET-CT showed a right-sided increased uptake in the obturator internus (Figures and , X) and obturator externus muscles, at a significant distance inferiorly to the irradiated zone. This uptake first became visible 22 months after the last radiotherapy session, reached a peak after 25 months (Figure ), and all but disappeared after 32 months without any further oncologic treatment. It was associated with gradual and permanent muscular volume loss compared to the contralateral side. This volume loss reached a maximum after 37 months (Figure ). The previous pelvic irradiation suggests that post-irradiation scarring led to injury of the nerves innervating the obturator muscles (i.e., the lumbar plexus or the obturator nerve). |
pmc-6524829-1 | A 66-year-old male was initiated on vancomycin IV for a MRSA prosthetic knee infection. Due to an increase in serum creatinine, vancomycin was switched to ceftaroline 300 mg IV every 8 hours (creatinine clearance of 22 mL/min) on hospital day 2. By day 9, the patient became neutropenic with an ANC of 1172 cells/mm3. On day 11, he continued to be neutropenic with an ANC of 1205 cells/mm3 () and also developed eosinophilia (8.6%), at which time ceftaroline was switched to daptomycin. Follow-up WBC on day 14 was 2900 cells/mm3 (61.4% neutrophils). |
pmc-6524829-2 | A 59-year-old female was treated with multiple antibiotic courses that included vancomycin and daptomycin for MRSA bacteremia with endocarditis. On day 24, antibiotics were changed to ceftaroline (renally adjusted at 400 mg IV every 12 hours × 3 days, then 400 mg IV every 8 hours for a CrCl of 47 mL/min) and daptomycin due to a newly discovered spinal infection including osteomyelitis and epidural abscess noted on imaging. On day 44 of hospitalization, she developed neutropenia with an ANC nadir of 20 cells/mm3, and ceftaroline was discontinued (). The patient’s neutropenia resolved after 10 days, with a follow-up ANC of 2223 cells/mm3, and the patient required broad-spectrum antibiotics and G-CSF due to neutropenic fevers. This case has been previously reported []. |
pmc-6524829-3 | A 26-year-old female was started on vancomycin IV for MRSA bacteremia complicated by endocarditis. On hospital day 3, ceftaroline 600 mg IV every 8 hours was added to vancomycin due to blood cultures remaining positive. Vancomycin was discontinued on day 14 because the patient developed acute renal failure. Daptomycin was then added to ceftaroline for additional coverage for MRSA endocarditis on day 20. After 21 days of ceftaroline therapy, the ANC had decreased to 4.5 cells/mm3, resulting in its discontinuation (). Neutropenia was present for 7 days, and G-CSF was administered daily for 7 days. |
pmc-6524829-4 | A 44-year-old male with extensively disseminated MRSA infection including endocarditis, endophthalmitis, septic arthritis, and spinal osteomyelitis with abscesses was treated with vancomycin IV. On day 6, ceftaroline 600 mg IV every 8 hours was added due to persistent bacteremia. By day 8, vancomycin IV was changed to daptomycin due to continued positive blood cultures. Due to concern for eosinophilia (12%), ceftaroline was discontinued on day 54. On day 85, daptomycin was changed to combination therapy with linezolid and vancomycin IV due to worsening endophthalmitis. Vancomycin IV was subsequently changed to ceftaroline 600 mg IV every 12 hours on day 89. By day 90, the linezolid was changed to daptomycin due to cytopenias. Ceftaroline was discontinued at day 112 due to pancytopenia (WBC of 3100 cells/mm3, 48% neutrophils, ANC of 1472 cells/mm3) and eosinophilia (10%) (). By day 116, the pancytopenia and eosinophilia had improved, with a WBC at 4100 cells/mm3 with 52% neutrophils. |
pmc-6524854-1 | A 27-year-old woman was admitted to the hospital (November 2012) in the 20th week of her pregnancy where she was diagnosed with an acute pregnancy-onset TTP episode (one acute phase sample available before treatment [Ac]). Clinical symptoms were arterial hypertension and the presence of petechiae, but no neurological symptoms. Standard laboratory analysis revealed thrombocytopenia (5 × 10
9
platelets/L), hemolytic anemia (hemoglobin 7.0 g/dL) with presence of schistocytes (7–10/1,000 red blood cells), and increased lactate dehydrogenase levels (454 U/L). The direct Coombs test was negative. Due to severe intrauterine growth restriction of the fetus, her pregnancy was terminated. Therapeutic plasma exchange (PEx) was given in combination with corticosteroids and platelet count normalized after 6 days. MRI of the brain showed old ischemic lesions in both cerebral hemispheres, probably from an ischemic event 7 months earlier. At that time, she also had a missed abortion, making pregnancy termination necessary. PEx was restarted for 7 consecutive days after an interval of 2 days because of recurrent thrombocytopenia. In December 2012, PEx was reinitiated again, but was rapidly stopped following diagnosis of
Escherichia coli
–induced sepsis. From that moment, she has been in remission (two remission samples available: February 2013, sample remission 1 [R1] and October 2014, sample remission 2 [R2]). ADAMTS13 was fully characterized both in plasma and on a molecular level to determine the cause of this pregnancy-onset TTP episode (see results). The patient gave informed consent according to the Declaration of Helsinki. The parents and other family members were unavailable for the study. |
pmc-6524881-1 | A 73-year-old woman with no previous comorbidities or family history of hematological disorders or hypercoagulability was admitted to the Infectious Disease Clinic due to suspected HFRS and dehydration. Two weeks prior to disease onset, she had been exposed to bank voles while cleaning out a cabin. For 6 days following disease onset, she had been ill with fever, chills, weakness, low urine production, and difficulties eating and drinking. The patient had positive serology for Puumala virus thereby confirming the HFRS diagnosis. Laboratory tests taken the day before admission revealed thrombocytopenia (platelet count: 48 × 10
9
/L), impaired renal function (creatinine: 278 μmol/L), and leucocytosis (white blood cell count: 14 × 10
9
/L). Upon admission to the hospital, the platelet count had increased to 61 × 10
9
/L and creatinine increased to 370 μmol/L indicating clinical progression to the oliguric stage of HFRS. However, the platelet levels decreased to 12 × 10
9
/L on days 8 to 9. The treating physicians decided to transfuse platelets on days 8, 9, and 10 due to the high risk of spontaneous bleeding. Despite transfusion with three platelet units, the patient remained severely thrombocytopenic with platelet counts below 50 × 10
9
/L during days 8 to 13. The case is summarized in
. Criteria for disseminated intravascular coagulation (DIC) were fulfilled from day 8 (see
for an overview of criteria).
On day 13 (2 days after the last platelet transfusion and a platelet count of 27 × 10
9
/L), the patient falls ill with abdominal pain which increases in severity during the evening. An abdominal computed tomography (CT) shows congestion and ischemia in the terminal ileum due to a thrombus in the superior mesenteric vein (SMV) reaching up to the portal vein (PV). The hematologist advised against thrombolysis due to thrombocytopenia in combination with a known mild VHF, which could increase the risk of bleeding. A national coagulation expert is consulted for further advice, who recommends anticoagulant treatment with heparin in a “careful” dose. Heparin at a dose two-thirds the national recommended dose is initiated with the aim of APTT 1.5 times the baseline value (40–50 s). The patient therefore receives a bolus dose of 4,000 units heparin followed by transfusion of 24,000 units heparin per day. The following day (15), the patient has gastrointestinal bleeding and a decrease in hemoglobin values from 100 to 89 g/L. According to the surgeon consultant, the stasis caused by the SMV and PV thrombus damages the intestinal mucosa leading to the observed gastrointestinal bleeding. Heparin is therefore continued in the same careful dose and the patient receives one unit red blood cells (RBCs) that day and the following day (16). The following criteria had to be fulfilled before mesenteric phlebography and thrombolysis via catheter could be considered: (1) platelet levels greater than 100 × 10
9
/L, (2) no bleeding, and (3) the patient can tolerate a full-dose heparin. On day 19, the patient fulfilled these criteria and underwent mesenteric phlebography via interventional radiology. Using the percutaneous transhepatic route to the PV, a hydrolyser 7F, double lumen, over-the-wire thrombolysis (Hydrolysis, Cordis Europe NV, Roden, the Netherlands) was used to perform a mechanical thrombolysis of the PV followed by pharmacological thrombolysis with tPA (Actilyse infusion: 0.8 mg/hour). A notation from the surgery department states that the previous heparin treatment aiming for 1.5 times APTT had been unsuccessful in decreasing the size of the SMV and PV thrombus. A control angiography 6 hours postsurgery shows that the thrombus distally in the SMV has been removed. There is still a thrombus between the portal and the splenic vein; therefore, the catheter is moved further into the area of thrombosis and thrombolysis by Actilyse administration is continued. At this time, there is no contrast leakage as a sign of hepatic bleeding. The patient stays in the intensive care unit (ICU) with local hydrolysis via the catheter. The following day (20), the patient becomes hypotensive with systolic blood pressure down to 75, and has signs of peritonitis. The levels of the fibrin degradation product D-dimer increases to 20 mg/L and fibrinogen decreases to 0.69 g/L. A CT thorax/abdominal scan shows an ongoing expanding hepatic intraparenchymal arterial bleeding. In addition, the CT scan shows presence of pulmonary emboli. Since the patient has a propensity for bleeding and thromboembolism, arterial intervention via the femoral artery into the aorta and then out into the common hepatic artery with coiling was not an option. Instead an emergency surgery procedure is performed with ligation of the right hepatic artery in the hepatoduodenal ligament, which stops the bleeding. In addition, the anticoagulant therapy is discontinued that day and the patient is tended in the ICU in a respirator. On day 21, the anticoagulant therapy is readministered at a low dose. The patient is extubated on day 22 and the anticoagulant therapy is increased to a target of APTT 60s due to remaining portal thrombi and peripheral pulmonary emboli. On the evening of day 25, the patient develops acute dyspnea, and oxygen saturation decreases to 88% with 4 L of oxygen and tachycardia. A CT pulmonary angiography shows pulmonary emboli in the right and left pulmonary arteries and peripherally in the pulmonary lobe arteries. The patient is transferred that evening to the ICU with heparin treatment at a target of APTT 85s. An ultrasound of the peripheral extremities (day 26) shows bilateral deep vein thrombosis in the posterior tibial veins. Since the APTT remains difficult to adjust (ranging from over 180s to the therapeutic target of 80s) and the propensity to develop thrombosis despite anticoagulation, it is decided to change the treatment from heparin to low-molecular-weight heparin (Fragmin 16,000 IU/day) on day 32. After day 55, the patient receives warfarin as prophylaxis against further thromboses and is discharged to her home on day 61. To rule out other causes for the thromboembolic complications, she was tested and found negative for activated protein C resistance. |
pmc-6524891-1 | S.B. is a 78-year-old Caucasian female who was prescribed rivaroxaban for atrial fibrillation, but stopped treatment due to risk concerns raised on television advertisements. Several months following her cessation of rivaroxaban therapy, she suffered an ischemic cerebral vascular accident (CVA) which converted to a hemorrhagic stroke 2 days later. These events, which occurred 2 years ago, resulted in left hemiplegia. While it is unclear from her medical report when warfarin was started, she has been taking warfarin for her atrial fibrillation and monitored at her local anticoagulation clinic for approximately 1 year.
Over that year of warfarin therapy, S.B. reported regularly to the anticoagulation clinic for international normalized ratio (INR) monitoring, generally with 5- to 8-week follow-up intervals. Most of the time, she remained within her prescribed therapeutic range (INR goal of 2–3). As she suffered from numerous sequelae related to CVA, she decided to pursue HBOT as a means to improve her clinical status and quality of life. The week prior to her HBOT, she arrived at the anticoagulation clinic for her regular follow-up, and it was determined that her INR was elevated at 3.5. During the ensuing discussion, her son, who was also her caregiver, mentioned that she would be undergoing HBOT for 1-hour sessions, five times a week, for 6 weeks of total duration of treatment. Due to the extended course of treatment and the fact that they would be devoting their resources to travel the long distance to the HBOT treatment site, the patient and her son were resistant to alter the warfarin dose at that time. Concerns for increased risk of bleeding events were discussed and the patient was scheduled for return monitoring. Her next INR continued slightly out of range at 3.2, and no dose change was made. At that time, she was 3 weeks into her HBOT treatment plan without any bleeding complications noted. Her INR 4 days after her last HBOT was within target range at 2.7, and again it was recorded that there had been no complication of bleeding during the treatments and no adjustment to warfarin dose. |
pmc-6524912-1 | An 81-year-old woman with dilated cardiomyopathy was referred to our institution for urgent Mitraclip procedure because of severe MR and heart failure refractory to full medical treatment, including high-dose intravenous (IV) diuretics. Echocardiography showed severe left ventricular dilatation, with 20% ejection fraction, severe left and right atrial enlargement, and severe functional mitral and tricuspid regurgitation (
). Comorbidity included type 2 HIT, chronic hepatitis C virus infection, chronic anemia, chronic kidney disease (CKD) with glomerular filtration rate 37 mL/min, previous mammary cancer followed by radiotherapy (40 years before), and previous operated colon adenocarcinoma (10 years before). Baseline activated partial thromboplastin time (aPTT), international normalized ratio (INR), and fibrinogen were within normal limits. The patient had received CRT-D 4 years earlier.
Ongoing therapy
: furosemide 500 mg/die IV, carvedilol 6.25 mg bid, potassium canrenoate 100 mg, iron supplement, pantoprazole, levothyroxine, and levosimendan.
The Mitraclip procedure was conducted with standard technique. Saline solution without heparin was used for catheters' flushing. We administered bivalirudin bolus (0.75 mg/kg IV) immediately after transseptal puncture and at the same time a PCI-dose infusion of 1.40 mg/kg per hour was started (recommended dose reduction for CKD).
After release of the first clip, during positioning of a second clip to improve procedural result, a moving image suggestive for thrombus became evident on top of the clip (
and
). ACT measured 240 seconds. An additional bivalirudin bolus of 0.3 mg/kg was administered and the infusion rate increased to 1.75 mg/kg/hour. The mass did not reduce and actually tended to increase. Hence, the clip was carefully removed to avoid embolization. Once outside the catheter, a large thrombus attached to the clip was evident (
, panel D). Then, a line for additional bivalirudin continuous infusion (and flushing) was placed directly on the guiding catheter, at a rate of 0.2 mg/kg/hour. ACT then measured 455 seconds. The procedure was successfully completed with reduction of MR grade from 4+ to 1+ . Bivalirudin infusion was stopped and the guiding catheter removed without complications. No clinical signs of embolization appeared, although we cannot rule out small silent systemic embolizations. The patient was discharged home after 1 week. Antithrombotic regimen was lifelong aspirin and clopidogrel for 6 months. |
pmc-6524915-1 | An apparently healthy 65-year-old man without a tendency to bleed was referred to our center because of abnormal coagulation assay results (
) that were detected prior to surgery for thyroid nodule. He had never received any anticoagulants. Hereditary deficit was excluded, due to normal coagulation assays tested a year ago. Patient never showed thrombotic or hemorrhagic diseases. Thyroid nodule was removed without any bleeding problems during or after the procedure. At present, the patient is healthy and asymptomatic. |
pmc-6524935-1 | In this case study, a 55-year-old male patient was diagnosed in August 2012 with a non-functional pancreatic NET G2/G3 (according to the WHO 2010 classification) and synchronous liver metastasis with a hepatic tumor load of already 70%. In addition to the hepatic dissemination, metastasis also affected additional distant sites such as the spleen, kidneys, adrenals, peritoneum and lymph nodes. A table of the entire course of disease is provided in .
Immunohistochemistry of a liver biopsy showed co-expression of synaptophysin, CK18, CK20, CD56 but negativity for Chromogranin A, CK7 and CA19.9. At initial diagnosis in 2012, Ki 67 was 20%, whereas in 2016 it had increased to >50% and in 2017 was reduced to 35%. Membranous PD-L1 expression was found in 30% of the tumor cells in the liver biopsy, both in 2016 and 2017. .
In vivo somatostatin receptor imaging by Ga68-DOTATOC-PET-CT and tectreotide-scintigraphy showed a heterogenous somatostatin receptor expression with positivity for the primary tumor, but negativity for the liver metastases. Therefore, PRRT was excluded as a therapeutic option.
Due to the widespread dissemination of the tumor, curative surgery was not feasible. Consequently, first-line chemotherapy using FOLFOX was started in 2012 externally. Due to tumor progression, a second-line combination therapy using temozolomide and capecitabine was initiated.
Although the combination of temozolomide and capecitabine led to a stable disease for more than three years, eventually tumor resistance developed in 2016.
In October 2016, consecutive locoregional brachytherapy using an after-loading technique [,
] showed also fast progression of the hepatic metastases. Similarly, everolimus, an mTOR-inhibitor, was experimentally initiated despite a high Ki 67 > 50% [, ]. Everolimus had to be discontinued after three months based on pneumonitis as adverse effect. Another targeted drug, sunitinib, was excluded due to the expected lack of response to treatment and side effects such as arterial hypertension and bleeding based on the existing portal hypertension [, ].
Following all failed treatments, an additional large (78 mm in diameter) metastasis of the left kidney led to macrohematuria. The renal metastasis was treated with cyber knife and palliative local radiation, which led to a cessation of hematuria. 4th line systemic chemotherapy with FOLFIRI was initiated. Following also progression with FOLFIRI in June 2017, pembrolizumab, a highly selective, humanized monoclonal IgG4-kappa isotype antibody against PD-1 was started. Treatment began with 150 mg i.v. (2 mg/kg body weight) every 21 days and was deescalated to 100 mg every cycle due to pancytopenia []. For the following cycles, therapy with 140 mg was used without further side effects and recovery of hematopoiesis.
Until April 2018, monotherapy using PD-1-blocker led to a sustained partial remission with a hepatic tumor size reduction of at least 66% and a Karnofsky score of 100%. .
Already three applications over a period of three months led to a partial remission with distinct regression of the hepatic, kidney and adrenal metastasis as shown by CT-imaging (, ). In addition, the general health condition including physical activity and health related quality of life (QoL) of the patient improved. Applying pembrolizumab, the patient gained 5 kg weight, stopped analgesics such as metamizole and tramadol, and resumed full time work again. Current physical examination after the thirteenth application of pembrolizumab over 9 months showed, that the liver gained normal size again, starting at initial diagnosis at mean corpuscular length of 190 mm in 08/2012 to 110 mm in 06/2017. In addition, CT-imaging revealed an impressive regression of the hepatic metastasis whereby in 11/2017 some lesions disappeared and other lesions as in segment 2/3 regressed from 60 x 40 mm in 09/2017 to 20 x 16 mm in 04/2018. ,
.
Apart from a pembrolizumab induced pneumonitis of a low degree of severity with no clinical symptoms, we could not observe any other potential side effects known for pembrolizumab therapy such as fatigue, skin rush, diarrhea or allergic reaction during application [
].
Following 13 applications of pembrolizumab, therapy had to be paused due to pneumonitis and continued following a successful treatment with steroids. Until now, a persistent partial remission is observed. |
pmc-6525220-1 | A 72-year-old slightly obese man with a body mass index of 28.4 presented to our hospital for chest tightness and nausea for 2 weeks. There was no history of thoracic and abdominal trauma. A chest X-ray film revealed a double line on the right diaphragm (Fig. ). Chest CT demonstrated a well-circumscribed mass in the right thoracic cavity measuring 28 cm × 9 cm × 10 cm that was compressing the right lower lobe (Fig. a). The mass comprised mostly fatty tissue, and any other organs such as intestinal tract were not included in the mass (Fig. b). The results of blood chemistry studies, including tumor markers, were within normal ranges. Thus, the following differential diagnosis were considered: lipoma, liposarcoma, and diaphragmatic hernia. Surgery was performed for diagnosis and treatment via a small lateral thoracotomy via the seventh intercostal space with thoracoscopic assistance. A retroperitoneal fat pad of 28 cm in size was slid into the thoracic cavity from the right lumbocostal triangle, as the hernia orifice (Fig. a, b). The size of orifice was about 8 × 5 cm. We transected the neck of the fat pad above the orifice, because the hernia content in the thoracic cavity was larger than the orifice and difficult to reduce. Several feeding arteries contained in the stem were dissected by a vessel-sealing device. The orifice was closed by suturing the surrounding diaphragmatic muscle and the chest wall. The collapsed lung could be re-expanded by positive pressure ventilation without developing acute lung edema. The operation time was 112 min and the total blood loss 220 g. The fat pad measured 28 × 9.7 × 9.5 cm (Fig. a). Histological examination revealed maturated fat tissue (Fig. b). The chest drain was removed on the first postoperative day. Postoperative chest X-ray films demonstrated progressive re-expansion of the right lower lobes, which had been collapsed preoperatively. The patient was discharged on the third postoperative day. Not only his dyspnea on effort but also his stiff neck improved considerably. When last seen at his 4-month follow-up visit, he reported a good quality of life and there was no evidence of recurrence. |
pmc-6525223-1 | A 66-year-old male with epigastric pain was admitted to a practitioner. He underwent a gastroscopy with biopsy, and cancer located in the lesser curvature of the gastric cardia was found. The patient was transferred to our hospital for surgical treatment. He was in good health except for mild obesity (body mass index of 27) and a history of appendectomy. Abdominal examination revealed tenderness in the epigastric fossa. However, no palpable pulsatile mass was confirmed. There was no symptom of hypertension and heart failure. Laboratory findings were unremarkable except for high hemoglobin A1c levels as 6.7% (ranging 0–6%). Ultrasonic cardiography showed no remarkable right heart load and pulmonary hypertension.
Upper gastrointestinal endoscopy showed an irregular ulcerated lesion with fold convergence, encroachment, and poor dispensability in the lesser curvature of the cardia, which was diagnosed as submucosal or muscular proprial infiltration by gastric cancer. Histological diagnosis revealed a moderately-to-poorly differentiated adenocarcinoma. Neither varices nor portal hypertensive gastropathy was remarkable.
Enhanced CT did not reveal wall thickening of the stomach and distant metastases, but several swollen lymph nodes were observed in the right cardia. In the arterial phase, dilation of the inferior mesenteric vein (IMV) and superior rectal artery (SRA) were noted, which raised suspicions of an arterioportal communication (e.g., a fistula between the branches of the inferior mesenteric artery (IMA) and the SRA (Fig. )). Furthermore, wall thickening with enhancement of rectum was observed, which was hypothesized to be an intestinal edema due to APFs or rectal cancer. Colonoscopy revealed a type 2 rectal tumor located 12 cm from the anal verge. Background mucosa did not show edematous change or ulcerative and hemorrhagic lesions (Fig. ). The histological diagnosis of well-differentiated tubular adenocarcinoma was confirmed by biopsy.
Four-dimensional CT angiography demonstrated that the tortuous and dilated IMV supplied blood flow through several fistulas including the SRA, bilateral internal iliac artery (IIA), and median sacral artery (Fig. ). Abdominal enhanced magnetic resonance imaging (MRI) revealed blood inflow from branches of median sacral artery to APFs by flow void at the pelvic surface of sacrum (Fig. ), which did not identify a nidus, an abnormal vascular mass with an arteriovenous malformation. Selective angiography showed that SRA occupied more blood inflow to APFs in comparison with the bilateral IIA and median sacral artery (Fig. ). The superior mesenteric artery did not contribute to the constitution of the APFs.
These abnormal vessel communications were diagnosed as APFs which used the SRA, bilateral IIA, and median sacral artery as inflow vessels and the IMV as outflow vessel. Additionally, the synchronous double cancer was diagnosed as gastric cancer (U, Less, cT2, cN1, cM0, cStageIIA) and rectal cancer (Ra, cT3, cN0, cM0, cStageII) using the Union for International Cancer Control’s classification []. We were aware of intraoperative bleeding complications due to many vessels penetrating the mesorectum from the IIA and median sacral artery in a low anterior resection. Furthermore, it was possible that occult portal hypertension due to dilated IMV resulted in a hemorrhagic tendency in gastrectomy. At a first step, we planned to perform a radiological embolization of inflow vessels to APFs except for SRA. Additionally, we determined the interval time of 1 month between the first low anterior rectal resection and the sequential gastrectomy for the purpose of decreasing portal pressure.
Fistula embolization was performed for the branches of the median sacral artery and bilateral IIA using a micro coil, gelatin sponge, and n-butyl-2-cyanoacrylate (Fig. ). Post-treatment aortography revealed hypo-perfusion of APFs. On the day following interventional radiology (IVR), the patient underwent laparoscopic low anterior resection with D3 lymphadenectomy. We reasonably assumed that the fistula was located in mesorectum because the coil was exposed to inflow vessels on the exfoliated surface of the pelvis (Fig. ). Intestinal reconstruction was anastomosed with the double stapling technique without additional covering colostomy. Intraoperative blood loss was 165 g. The freshly resected specimens revealed a 68 × 38 mm of type 2 tumor without erosions or ulcer on the mucosa. Pathological findings diagnosed the rectal cancer (Ra, Type2, pT3, pN0 (0/14), pStageII) [].
Abdominal CT performed on postoperative day 14 showed a small fluid collection with gas around the anastomosis, which suggested an anastomotic leakage and thrombosis, which emerged in the right branch of the portal vein and remnant IMV. After intake of warfarin for 2 weeks, thrombotic size was markedly decreased, and the diameter of portal vein diminished in size compared to its preoperative state (Fig. ). The 1-week fasting cured the anastomosis leakage without generating a stoma. The patient underwent total gastrectomy with a Roux-en-Y reconstruction 1 month after surgery for rectal cancer. No over-swelling of portal vein system or splenectasis was found, and blood loss was 410 g. The final gastric cancer staging was U, Less, Type3, pT3, pN1a(2/37), pStageIIB [].
The postoperative course was uneventful without hemorrhagic complications, and S-1 was taken internally 1 year as adjuvant chemotherapy for gastric cancer. The patient still lives without recurrence of this cancer with APF and portal vein thrombosis 2.5 years after the aforementioned surgeries. |
pmc-6525288-1 | A 35-year-old healthy pregnant lady with a history of 3 previous cesarean sections was scheduled for her 4th cesarean delivery. The operation was performed under spinal anesthesia. Severe adhesion of the urinary bladder to the lower uterine segment was encountered but there was no apparent lower urinary tract injury. Her postoperative period was uneventful and she was discharged home the next day. On the 11th postoperative day she was readmitted to the emergency unit at 11 pm with considerable abdominal distension, shortness of breath and difficulty of micturition with straining to void. Further questioning revealed sudden inability to void 5 days earlier followed by mild hematuria and passing a small amount of urine. On examination she was dyspneic, the abdomen was distended, pulse rate was 100 BPM, blood pressure was 100/60 mm/Hg and afebrile. Immediate resuscitation was started and Foley catheter was inserted which drained 100 ml concentrated urine. Serum creatinine (6.8 mg/dl), blood urea (123 mg/dl) and serum potassium (5.6 meq/l) were high. Abdominal and pelvic ultrasound showed marked ascites (), normal both kidneys with no hydronephrosis. A trial of diagnostic and therapeutic ascitic fluid drainage was performed by putting a percutaneous 12 French pigtail catheter in the right lower abdomen under ultrasonic guidance (). Six and a half liters of clear fluid was drained. Biochemical investigation of the drained fluid showed high urea (145 mg/dl) and creatinine (20 mg/dl). Diagnosis of urinary ascites was confirmed. Later on, there was a dramatic improvement in the general condition of the patient. Next day blood chemistry was repeated and showed normal blood urea and serum creatinine. Through cystoscopy, we detected a perforation at the posterior wall of the bladder (), while both ureters were normal. Then a Foley catheter was fixed to completely drain the urine in addition to the peritoneal drain to allow the perforation to heal. The patient was put on intravenous fluid and antibiotics with monitoring of vital signs. Three days later the intraperitoneal drain nearly had no drainage and no more free fluid could be seen on ultrasound scan, therefore the tube was removed. The patient was discharged with Foley catheter in place. Two weeks later voiding cystography was performed which showed no more leak () and the Foley catheter was removed. The patient was discharged home with a good health and returned to her daily life. |
pmc-6525366-1 | The previous pregnancy of a 37-year-old healthy Japanese woman (gravida 2, para 1) had been uncomplicated, and the resulting child was alive and well. She had no history of periconceptional tobacco smoking, alcohol intake, radiation exposure, or intake of other supplements and drugs. She had no clinical problems during the early period of the current pregnancy; however, she did not undergo an ultrasound examination during the first trimester. At 36 weeks of gestation of the current pregnancy, a routine ultrasound examination revealed an abnormal number of umbilical cord vessels. A fetal ultrasound examination was performed using a GE Voluson™ E10 ultrasound machine (General Electric Healthcare, Tokyo, Japan) with a 3.5-MHz convex-array transducer. The examination revealed the coexistence of a four-vessel part and a three-vessel part within the free loop of the umbilical cord (Fig. ). The fetal insertion site of the umbilical cord comprised four vessels (two arteries and two veins), whereas the placental insertion site comprised three vessels (two arteries and one vein). The blood flow was demonstrated in both veins by two sonographic specialists in maternal fetal medicine, and the flow was similar in each vessel. However, we were unable to prenatally detect the exact point at which the umbilical cord changed from a four-vessel to a three-vessel cord. The intra-abdominal umbilical vein was a single vessel that was connected to the ductus venosus and returned to the right atrium (Fig. ). No other sonographic congenital abnormalities were detected on fetal ultrasound screening performed in accordance with the recommendations of the International Society of Ultrasound in Obstetrics and Gynecology [].
At 38 weeks of gestation, a healthy female neonate weighing 2726 g was delivered by spontaneous vaginal delivery. The infant’s Apgar scores were 9 and 10 at 1 minute and 5 minutes, respectively. The neonatal physical examination at birth was normal.
Ultrasonographic examination of the infant at the age of 54 days revealed normal anatomy and no congenital anomalies. The umbilical cord measured 40 cm in length; the four-vessel part continued to a distance of 18 cm from the surface of the infant’s body, and the remaining umbilical cord comprised three vessels. On histological examination, the fetal side of the umbilical cord had two arteries and two veins, and the placental side had two arteries and one vein. Microscopic examination of cross-sectional sections of the umbilical cord obtained at 1 cm intervals and stained with both hematoxylin-eosin (Fig. a and b) and Elastica van Gieson revealed that the umbilical cord had a four-vessel part comprising two arteries and two veins, and that the two umbilical veins then fused, resulting in a three-vessel part comprising two arteries and one vein. The placenta had a trimmed weight of 430 g, and was both macroscopically and microscopically unremarkable. |
pmc-6525401-1 | Forty-four-year-old Caucasian female proband suffering from progressive bilateral SNHL since the second decade of her life and positive family history for hearing loss was referred to the Department of ORL-HNS at the University Hospital in Bratislava. Detailed family history questioning revealed other five affected family members in three generations with autosomal dominant inheritance pattern. After excluding the DFNB1 etiology in the proband as a routine step in our diagnostic pipeline for hereditary hearing loss, peripheral blood was taken for DNA analysis and general ENT examination together with audiological tests (tympanometry, stapedial reflexes, ABR, pure tone audiometry in frequency range 250–6000 Hz) were performed in all affected and unaffected family members, who agreed to participate. Additionally, the affected individuals were also subject to vestibular examination (VEMPs, video Head Impulse Test, videonystagmography, caloric testing, and postural tests) to evaluate the vestibular function of the inner ear. Moreover, the proband underwent imaging studies (temporal bone CT and MRI).
After WES results were obtained and hearing loss etiology was determined, three affected subjects older than 40 years underwent detailed cardiological assessment including ECG and echocardiography. All participants or their legal representatives signed informed consent and the study was approved by the Ethics Committee of University Hospital in Bratislava.
Genomic DNA was isolated from peripheral blood using standard procedures. WES was done by a service provider (BGI, HongKong). DNA library was prepared using BGI 59 M Human Exome kit and was sequenced on Complete Genomics Black Bird platform (BGI, Shenzen, China).
Sequencing data was processed by BGI’s standard bioinformatics pipeline which encompassed base calling, alignment of generated reads to the GRCh37 reference genome without the unplaced or alternate loci and variant calling. Aligned reads and called variants were obtained in standard bioinformatics formats and subjected to following bioinformatics pipeline. Variants were decomposed and normalized using vt []. Variant effect predictor [] was used to annotate the variants with respect to their potential effects on genes and transcripts and to add scores from in-silico prediction algorithms PolyPhen and SIFT. As the last step of variant annotation, the Gemini framework [] was used to insert variants into newly created SQLite database and to add additional data from genome annotation databases like dbSNP [], ENCODE [], ClinVar, 1000 Genomes [], Exome Sequencing Project (ESP) [] and Exome Aggregation Consortium (ExAC) [].
Then, variant prioritization and filtering were realized by removing those with a MAF ≥ 0.01 (based on dbSNP v138, ESP, ExAC v0.3) and the resulting variant set was further narrowed down by removing variants not lying inside regions of 91 genes with known association with nonsyndromic sensorineural hearing loss (NSNHL) in human. Set of evaluated NSNHL genes was based on the Hereditary Hearing Loss webpage [].
Functional consequences of candidate variants were evaluated using CADD, PolyPhen and SIFT prediction algorithms [–]. The strength of wt and mutated splice donor site was assessed using MaxEntScan, Human Splicing Finder and NNSplice [–].
Sanger sequencing was performed to verify variants identified by WES and to determine co-segregation of the candidate variant with hearing loss in all participating family members. PCR primers amplifying exon 10 and 100 bp of surrounding intronic regions of EYA4 were designed using Primer BLAST software. Sequencing reactions of PCR products were carried out using BigDye Terminator v3.1 chemistry and separated on ABI 3500 genetic analyzer (Applied Biosystems) according to manufacturer’s instructions. GenBank RefSeq NM_004100.4 was used as the EYA4 reference sequence.
Minigene assay was performed as described in []. The pSpliceExpress vector was a gift from Stefan Stamm (Addgene plasmid # 32485). Briefly, EYA4 exon10 was amplified from patient DNA using primers with attB1 and attB2 tails and was cloned into the pSpliceExpress using Clonase BP (Invitrogen). Competent cells (SIG10 5α, Sigma) were transformed and positive clones were selected on ampicillin (100 mg/ml). The sequence of selected clones was verified using colony PCR and sequencing. Purified plasmids from two clones, one wild type and one carrying tested mutation, were used for lipofection of HeLa (Sigma) cells. Cells were lysed after 24 h, RNA was extracted with DNaseI step included, reverse transcribed, the minigene cDNA was amplified, and presence/absence of EYA4 exon10 was tested on agarose gel electrophoresis and verified by sequencing. Quantification of band densities was carried out with ImageJ [] and counted ratio was corrected for the molecular weight of compared fragments.
The pedigree of the family presenting with autosomal dominant NSNHL is shown in Fig. . In total, 8 affected individuals in 4 generations could be identified presenting with postlingual bilateral progressive sensorineural hearing loss. From 12 individuals available for genetic and audiological testing we identified 6 subjects with bilateral sensorineural hearing loss corresponding to the phenotype of the proband. In female subject III:9 this was the primary diagnosis of hearing loss, as she was not aware of any major subjective hearing problems yet. The degree of hearing loss in the affected subjects ranged from moderate to severe hearing loss based on pure tone average at frequencies 500, 1000, 2000 and 4000 Hz (Fig. ). Moreover, one subject (III:5) demonstrated unilateral SNHL. The age of hearing loss onset varied between 10 and 40 years and had a progressive course in all subjects based on serial audiograms. One mutation carrier (IV:1) had yet normal pure tone thresholds at the age of 21 years. Construction of age-related typical audiogram (ARTA) showed the most rapid hearing deterioration in the 5th and 6th decade of life (Fig. ). All subjects requiring hearing rehabilitation benefited from conventional hearing aids. Tinnitus was inconstantly present in 3 subjects, without any association to age or hearing loss severity. Vestibular symptoms (vertigo with occasional headache) only occurred in the proband. Based on the clinical history and results of vestibular testing we supposed the diagnosis of vestibular migraine independently from the etiology of hearing loss. Temporal bone anatomy in the proband was normal based on CT and MRI scans.
Cardiologic findings demonstrated normal heart morphology and function in all three investigated subjects (II:2, II:6, III:2), without any signs of dilation cardiomyopathy. Similarly, no history of sudden cardiac death or increased prevalence of cardiac disease was recorded in the family. Additional clinical findings, which were only present in the mutation carriers, but did not clearly cosegregate with the mutation included blindness in subject II:10 due to bilateral retinopathy with onset in childhood.
Whole exome sequencing was performed in the proband (III:2). In total, 558 million uniquely mapped reads with MAPQ ≥30 were generated, covering 93.45% of exome target regions at least 20x. The overall mean sequencing depth was 162.22x (Table ). A total of 46,457 variants were called, transition vs. transversion ratio and values of heterozygous vs. non-reference homozygous genotype ratios were within recommended boundaries for WES data [, ]. Of those, 482 variants were novel and 1348 variants were present in at least one SNP polymorphism database (dbSNP, ESP, ExAC) with minor allele frequency (MAF) less than 1%. Finally, 19 rare/novel variants were found inside regions of 91 genes which had been associated with NSNHL before.
Ultimately, only 5 from 19 variants left by upstream analysis were localized within coding regions of NSNHL genes and only 3 variants were predicted to result in a change of amino acid sequence (Table ). The only novel variant was EYA4: c.804G > C transversion, which in respect to the amino acids is inferred to replace the glutamine with histidine residue at position 268 in the eyes absent 4 protein. However, since the changed nucleotide is the last base of EYA4 exon 10, and similar variants surrounding splice sites in other genes can induce changes in mRNA splicing [, ], additional analysis using in-silico splice site prediction tools was performed.
The Human Splicing Finder algorithm score was near the threshold value for exon being recognized by the spliceosome, whereas MaxEntScan with NNSplice indicated that the mutated sequence is not likely to be functional splice donor site (Table ). In combination, these scores suggested a high likelihood of splicing modification with resulting deleterious impact on protein sequence.
Presence of the c.804G > C variant in proband’s DNA and its heterozygous genotype were confirmed by Sanger sequencing (Fig. ). Additionally, DNA from all available affected and unaffected family members (n = 12) was investigated by cosegregation of the variant with hearing loss. Together 6 relatives of the proband were shown to have the EYA4 c.804G > C variant, all of them diagnosed with bilateral hearing loss, except individual IV:1, the youngest mutation carrier (21 years), who had yet normal hearing based on pure tone thresholds (Fig. ). This variant was not present in the DNA of unaffected family members older than 30 years.
The effect of the c.804G > C variant on splicing was tested using minigene assay. The results showed that the wild type exon was correctly incorporated in 89% of transcripts, while the exon carrying the c.804G > C variant failed to be retained in the mature transcript and was cut out during splicing (Fig. ). |
pmc-6525411-1 | A 60-year-old man was transferred to our department with sudden onset of abdominal pain. He had a past medical history of duodenal ulcer and paroxysmal atrial fibrillation, and had taken rivaroxaban. He had no allergy and no family medical history.
Physical examination showed initial findings of Glasgow coma scale, E4V5M6; blood pressure, 85/66 mmHg; respiratory rate, 25 /min; and peripheral oxygen saturation (SpO2), 100% at 6 L/min of oxygen by reservoir mask. He complained of sustained upper quadrant pain with abdominal guarding. Initial enhanced computed tomography (CT) demonstrated extravasation from the posterior inferior pancreaticoduodenal artery and celiac trunk stenosis. Thereafter, we diagnosed him with PDAA rupture due to MALS.
First, an urgent transcatheter arterial embolization (TAE) was performed (Fig. ). The PIPDA was selectively catheterized through the SMA, and embolization was performed using coils and N-butyl-2cyanoacrylate. The angiography at this time demonstrated both retrograde blood flow from the PIPDA to the celiac artery and stagnant contrast agent in the celiac trunk, indicating total celiac artery occlusion. The patient was admitted to the intensive care unit (ICU) because of some severe complications such as acute kidney injury, acidosis, and coagulopathy due to hemorrhagic shock. Continuous hemodiafiltration, intubation, and blood transfusion had been required in the ICU.
The patient was followed-up with enhanced CT every week. Follow-up CT on day 21 after admission (Fig. a) demonstrated newly formed multiple aneurysms in the transverse pancreatic artery, hepatic artery, great pancreatic artery, and right renal artery; notably, the hepatic artery enlargement was bead-like.
Because of the high rupture risk for the aneurysms in the both the transverse pancreatic and hepatic arteries, a second angiography was performed to evaluate the possibility of liver ischemia after an additional TAE of the pancreaticoduodenal arcade. Unexpectedly, the angiogram on both expiratory and inspiratory phases revealed substantially preserved blood flow in the celiac trunk and hepatic artery aneurysms (Fig. b and c). Based on these findings, we postulated that hemorrhagic shock-induced vasospasm caused bloodstream changes during the initial angiography or that a systemic vascular disorder, such as periarteritis nodosa (PAN) or segmental arterial mediolysis (SAM), may be involved in pathophysiologic mechanisms of these events. Although the PAN diagnosis was uncertain, we initiated pulse steroid therapy with methylprednisolone at 1000 mg/day for three days.
We decided to perform extrinsic MAL release before additional pancreaticoduodenal arcade TAE, which was considered safe without causing liver ischemia based on the findings of both the first and second angiography. The pancreaticoduodenal arcade aneurysm was at high risk for rupture irrespective of the size. The hepatic artery aneurysm was also at high risk. Additional rupture would result in vasospasm of celiac artery and decrease of the flow and result in liver ischemia. Therefore, we performed a laparoscopic MAL release on day 29. Simultaneous excision biopsy of the greater omentum showed no diagnostic pathologic findings, except for slight vasculitis.
On day 35, the second TAE was planned. Contrary to our prediction, digital subtraction angiography demonstrated spontaneous occlusion of the transverse pancreatic artery and marked resolution of the other aneurysms, including the hepatic artery aneurysms (Fig. ). Therefore, TAE was not performed. Although the blood examination did not fully satisfy the criteria for PAN, the patient received additional immunosuppressive therapy with oral prednisolone (60 mg/day) and intravenous cyclophosphamide (500 mg/day), which decreased the C-reactive protein (CRP) level to below 0.03 mg/dL. CRP level was maintained above 3.0 mg/dL until the therapy. For more than one year of follow-up, the patient remained recurrence-free and had no complaint about quality of life after discharge, even though hyperglycemia due to prednisolone required oral medication. The patient sent us a letter saying that he was satisfied with his current condition and had no complaint about our treatment. |
pmc-6525427-1 | A 38-year-old man (height, 172 cm; body weight, 120 kg; body mass index, 37) experienced chest discomfort 3 weeks ago, which improved within few days. However, after that episode, he was admitted with rapidly deteriorating severe breathlessness in a preshock state with acute heart failure. The patient had a smoking habit and hyperlipidemia. Electrocardiography revealed abnormal Q waves and slight ST elevation in the aVl, V1, V2, and V3 leads. However, laboratory findings demonstrated creatine kinase (CK) and CK-MB levels within the normal range. Echocardiography revealed aneurysmal enlargement in the anterior wall and moderate-to-massive pericardial effusion, and severely reduced wall motion of LV. Emergency coronary angiography demonstrated an occluded left anterior descending artery (LAD; Fig. ). Circulatory support with an intra-aortic balloon pumping (IABP) catheter was started because of unstable hemodynamics. Enhanced computed tomography showed extensive aneurysm formation on the anterior LV wall and contrast from the inner cavity to the LV myocardium, with moderately accumulated pericardial effusion (Fig. a–c). Emergency surgery was performed, and his blood pressure ranged 80 to 90 / 50 to 60 mmHg, with 40 mmHg for PA and 20 mmHg for CVP. After the median sternotomy, bloody pericardial effusion (400 ml) was drained, and cardiac tamponade was relieved. A large aneurysmal formation was noted on the anterior LV wall, slightly attached to the pericardium (Fig. a). Cardiopulmonary bypass (CPB) was established with an ascending aorta and bicaval cannulation. After dissecting the pericardium, a 5-mm, slit-like LV rupture site was found in the aneurysm, which caused cardiac tamponade (Fig. b). Following cardiac arrest by antegrade cardioplegia, the middle aneurysm portion was dissected parallel to the LAD. The anterior myocardium comprised intramyocardial heavy and flesh hematoma and necrotic myocardium (Fig. c). Of note, the anterior and posterior papillary muscles were not involved. After removing the hematoma and debriding the necrotic tissue, the anterior wall defect measured 10 × 7 cm. Traction sutures were placed at each anticipated closing line. Then, two sheets of bovine pericardial patch were tailored to the anterior wall defect shape, which was 5 cm × 10 cm. The LV defect was closed using the patch with transmural interrupted mattress sutures to avoid excessive reduction in the ventricular volume (Fig. a). Subsequently, the ventricular edge was closed with interrupted sutures using two Teflon felt strips to reinforce the suture from the outside (Fig. b). A second running suture was used to ensure a secure left ventriculotomy closure, and another Teflon felt strip was placed in the middle of the edge (Fig. c). Cardiopulmonary bypass was easily weaned. He was extubated the following day, and the IABP was smoothly removed. Postoperative echocardiography revealed an improvement in LV function (LVEF:40%), without mitral regurgitation. Postoperative cardiac magnetic resonance image revealed a well-reconstructed LV. He was discharged without any complication 3 weeks postoperatively. The LV aneurysmal rupture site specimen was sent for pathological study (Fig. a). Pathological findings showed myocardial necrotic tissue with cellular infiltration within the aneurysmal wall, consistent with a pseudo-false aneurysm, which was contained by the elements of the ventricular wall (Fig. b). |
pmc-6525444-1 | Patient 2 The patient is a 17-year-old female who has been followed up at King Faisal Specialist Hospital and Research Center (KFSHRC) for nearly 15 years. The patient was referred to KFSHRC with the suspicion of autism and had history of speech and language delay. She had normal pre- and perinatal history with slow milestones in language areas. She was given Beery-VMI, Leiter International Performance Scale, Selected subtests, and McCarthy Scales of Children’s Abilities (MSCA) at the age of 4-year-2-month-old. She managed a 3 and 5 block figures on MSCA without difficulty for an equivalency of 4+ years. She stacked only six blocks, showed some motor clumsiness. She speaks full sentences with reasonable clarity but her vocabulary was limited. She named only one of the picture vocabulary cards and was able to point 17 out of 19. She follows directions and her receptive language skills seem relatively impact. She did extremely well on the Leiter with an age equivalency of 5-years-5-months-old and IQ of 134. On the Beery-VMI she had similar but little lesser score. She showed poor pencil control with an age of equivalency of 42 months and a standard score of 93. There were no attention related problems. She was able to toilet herself with some help but could dress and feed herself without help. She was quite irritable and demanding, particularly with her parents, but not aggressive. At the age of 6 years, she had an echocardiogram that showed a redundant mildly prolapsed mitral valve. The cardiac muscle was mildly thickened, but otherwise normal in function. At the age of 7 years she was evaluated by a neurophysiologist due to speech delay and diagnosed with expressive language delay but normal psychomotor development. Her weight was only 15.3 kg, which is far below the 5th percentile; and her height was 104.5 cm, which is also far below 5th percentile. The second ECG was also performed confirming previous findings of localized septal hypertrophy and redundant anterior mitral leaflet. At the age of 16 she has a short status found to have growth hormone deficiency and delayed puberty.
Molecular analysis of the patient 1 was done using high-resolution GTW-banding and high-density oligo arrays. High-resolution GTW-banding (550 band resolution) was carried out as part of diagnostic procedures and did not reveal any gross abnormality. Cytoscan HD arrays (Affymetrix Inc., San Paolo, CA, US) identified two deletions with close proximity on 15q13 cytogenetic. The second deletion sits on 15q13.3 band (Table , Fig. a). The deletion sites are covered by more than 1082 probes in the first and 1052 probes in the second deletions. There are probeless regions on both deletions making precise BP calculations difficult. Interestingly, an area covered by 435 SNP-CP probes between the deletions clearly demonstrated that these deletions are two separate unique deletions in the region (Fig. a). Parental DNA was tested using the same chip, no chromosomal imbalance was detected hence the hemizygous deletion in our patient is considered de novo. |
pmc-6525833-1 | A 63-year-old male with a history of hypertension, 20 pack-years of smoking, thyroid cancer in remission with partial thyroidectomy, and chronic obstructive lung disease (COPD) presented to the emergency department (ED) with acute abdominal pain. Abdominal ultrasound showed gallstones with no evidence of cholecystitis or biliary obstruction. The patient was diagnosed with biliary colic and discharged home with a plan to perform an elective cholecystectomy. Computed tomography (CT) scan of the abdomen was performed as an outpatient as part of the preoperative workup which showed evidence of gallstones, small bilateral pleural effusions, and moderate pericardial effusion with high density suggestive of hemorrhage (). Consequently, the patient was referred to the emergency department for further workup. Upon arrival, the patient was asymptomatic, his vital signs were normal, and his physical examination was unremarkable. An electrocardiogram (EKG) revealed a nonspecific interventricular conduction delay. Chest x-ray showed a mildly enlarged cardiomediastinal silhouette with prominent perihilar opacities suggestive of a prominent vasculature (). Complete blood count and basic metabolic profile were within normal limits. Further laboratory workup showed normal erythrocyte sedimentation rate, rheumatoid factor, complement level, and procalcitonin with negative serology for antinuclear antibodies and double-stranded DNA antibodies. A transthoracic echocardiogram (TTE) showed a large pericardial effusion without signs of tamponade, moderate aortic regurgitation, and normal left ventricular ejection fraction and size. Given the large volume of pericardial effusion, a pericardial window was attempted. A total of one liter of hemorrhagic fluid was drained. Pericardial tissue biopsy showed acute and chronic inflammatory cells with thickened pericardium, and no malignant cells were detected (). Tuberculosis quantiferon assay, acid-fast bacilli staining, and fungal and bacterial cultures of the pericardial tissue were negative. The source of pericardial effusion remained elusive. Given the hemorrhagic nature of the pericardial effusion in the absence of recent use of anticoagulation and the negative workup for infectious or autoimmune etiology, a CT scan of the chest with contrast was obtained to evaluate for possible malignancy. CT showed an ascending aortic aneurysm measuring up to 7.5 cm with chronic dissection with no involvement of the coronaries or the great vessels (). The patient underwent successful open surgical repair of his chronic Stanford type A aortic dissection with an uneventful postoperative course. |
pmc-6525849-1 | Patient 1 was a 70-year-old man. He presented to our clinic in September 2008. Ultrasound examination and UBM showed in the left eye a solid irregular-shaped thickening starting at the level of the choroidal layer of the preequatorial part of the eye, between the 5 and 6:30 o'clock positions ( left), associated with circumscribed extraocular growth, into the overlying sclera under the conjunctiva, 2 mm thick ( right). This nodule was at about 6 mm from the limbus (); the adjacent ciliary body was thickened, and the basal diameter of the entire lesion was large about 13 mm. The corresponding anterior chamber angle was infiltrated, the acoustic structure was heterogeneous, and the internal reflectivity was medium; transversal diameter was 8.09 mm, longitudinal diameter was 8.89 mm, and the thickness was 3.5 mm. The diagnosis of melanoma involving the ciliary body and the anterior choroid extended into the sclera was made.
The patient was submitted to scleral full-thickness block excision (8.50 mm large) of tumor, combined to the corneal graft, 16 interrupted Nylon 10.0 sutures (Figures –). Histological analysis confirmed the diagnosis of pigmented epithelyoid cell melanoma. |
pmc-6525849-2 | She was a 48-year-old woman affected by a pigmented fusiform thickening of the iris root in the left eye, as shown by gonioscopy (). UBM revealed the presence of a well-circumscribed dome-shaped mass at the level of the ciliary body, between the 2:30 and 3 o'clock positions (). The acoustic structure was almost homogeneous, the internal reflectivity was medium, and the lesion was 8.18 mm large, 7.74 mm long, and 4.88 mm thick. It was classified as melanoma of the ciliary body, involving the adjacent iris root.
In July 2008, she underwent brachytherapy (106Ru): 100 Gy at the apex, dose rate: 79.09 cGy/hr; total rate at the sclera: 531.1 Gy, dose rate: 420.1 cGy/hr.
One year later, the patient showed a scleral thinning and a prolapse of uveal tissue at the limbus, corresponding to the site of the preexisting lesion (). UBM showed a local scleral extension of the tumor, under the conjunctival layer, 0.88 mm thick ().
BCVA was 20/20. The patient underwent a radical block excision of sclera, ciliary melanoma, and adjacent iris tissue, by a peripheral iridectomy performed through the opening of the sclera, combined to the corneal tectonic graft (8.50 mm large), 16 single stitches (Figures –).
Histological analysis confirmed the diagnosis of spindle cell melanoma (Figures –). |
pmc-6525849-3 | Patient 3 was a 42-year-old woman affected by epithelial cysts of the iris in the right eye, which had increased in size in the last few years, affecting the three upper-nasal clock hours of the anterior chamber, with related partial corneal failure ().
A block excision of the cysts, iris, cornea, and limbal sclera, including the angle, was performed in May 2010. A corneal graft (8.50 mm large), 16 interrupted Nylon 10.0 sutures, was contemporary sutured to the sclera and residual cornea to restore the bulbar wall (Figures and ). About 3 years later, she underwent a penetrating keratoplasty centered on the visual axis, combined to phacoemulsification of the cataract and refractive IOL implantation in the capsular bag, together with cosmetic neutral IOL implantation in the sulcus (). |
pmc-6525849-4 | She was a 17-year-old girl who was sent to our clinic for diffuse recurrence of epithelial iris cysts in the right eye, which involved the anterior chamber structures of the temporal side between the 8 and 12 o'clock positions (). She had previous surgical puncture and aspiration of the cysts when she was 7 years old. UMB showed multiple iris cysts extended into the anterior chamber in contact with the corneal endothelium; major cysts touched the equator and the anterior surface of the lens, occluding the anterior chamber angle and stretching the pupil foramen (Figures and ). In July 2012, the patient underwent surgery. Removal of cysts at 12 o'clock was possible by creating a scleral rectangular fornix-based flap, 5 × 4 mm large, and entering into the anterior chamber through a limbal linear incision, as in transcleral local resection (). Corneal tissue over these cysts, which was not involved, was preserved from excision and an anterior synechiolysis preceded uveo-scleral cysts block removal. Scleral flap was then sutured with five interrupted radial Nylon 10.0 stitches. An uveo-sclero-corneal block excision, including cysts from 8 to 11 o'clock, was then completed, after a core, decompressive, dry pars plana vitrectomy, and covered by the tectonic corneal graft, 8.50 mm large, 16 single stitches (Figures –). Histopathology confirmed the epithelial origin of the cysts (Figures and ). |
pmc-6525859-1 | A 75-year-old Arab male, chronic smoker, presented with a history of progressive dysphonia, hoarseness, airway obstruction, and worsening odynophagia over a 6-month period. The direct laryngoscopic test showed a left paramedian glottic and subglottic tumefaction, surrounded by intact mucosa and fixed homolateral hemilarynx. No adenopathy was found in the laterocervical region. The patient underwent neck computed tomography (CT) which showed a large mass of glottic and subglottic plan lateralized on the left measuring 5 × 3.5 cm containing calcifications, causing a retraction of the laryngeal diameter and destruction of the cricoid cartilage (). No infiltration of adjacent surgical plans and no adenopathies were detected. Gross pathology from a biopsy of mass consisted of numerous fragments of soft tissue, with firm consistency, roughened, and semitranslucent cut surfaces. Histological examination of the biopsy showed hyaline cartilage comprised of lobules of binucleated chondrocytes with increased nucleus to cytoplasmic ratios (). Mitotic activity was not identified. There was no evidence of a myxoid matrix and any areas of necrosis. These findings are diagnostic of a low-grade (grade 1 of 3) chondrosarcoma of the larynx. On the basis of the histological and radiological examinations performed, the patient underwent total laryngectomy (). The final histological examination confirmed the diagnosis of a well-differentiated grade 1 chondrosarcoma of the larynx. The patient was followed up for 5 months without any sign of recurrence or metastases. |
pmc-6525862-1 | A 25-year-old man presented with a painful flexion contracture of his right hand for four years. 10 years earlier, he had a motorcycle accident, injuring the right forearm. Following the injury, he had pain in his right forearm for several days, which improved with nonsteroidal anti-inflammatory drugs (NSAID). He was asymptomatic and had no movement deficits after the medication. Over the next few years, he gradually developed stiffness in his right index, middle, ring, and little fingers with pain in his right forearm and increasing difficulty in using the affected hand. He was unable to extend his metacarpophalangeal (MCP) joints, proximal interphalangeal (PIP) joints, and the distal interphalangeal (DIP) joints of the index, middle, ring, and little fingers. There were no constitutional symptoms like fever or weight loss.
On local examination, his right midforearm was tender, and no mass or swelling could be palpated. His right index, middle, ring, and little fingers were held in flexion, and passive extension of the PIP and DIP joints was grossly limited (). The pain was worse on passive extension of the finger, especially his index finger. Active and passive flexion of the index, middle, ring, and little fingers was unaffected. There was no motor weakness and no sensory deficit.
A clinical diagnosis of myositis flexion contracture was made. Conventional radiography revealed a soft tissue mass with calcific spots. Magnetic resonance imaging showed a well-defined lobulated mass with a bright signal intensity (SI) on T2W. Internal septations and dark internal SI spots, consistent with calcifications and/or hemorrhage, were present midway on the lateral aspect of the flexor digitorum profundus (FDP) tendon and partially involved the FDP muscle and extended to the intermuscular plane between the FDP and flexor pollicis longus (FPL). It was fed by an artery from the anterior interosseous artery, but it was not dilated ().
The patient underwent an excision of the mass. Surgery revealed a multiloculated red-yellowish mass, measuring 2 × 2 cm, which involved the FDP, but there was no neuromuscular involvement (). After excision, passive extension of the index, middle, ring, and little fingers was established before skin closure (). The final pathologic diagnosis was intramuscular hemangioma with the presence of thrombosis and a phlebolith (). Postoperatively, the patient could actively extend his right index, middle, ring, and little fingers. Full functional restoration was achieved approximately 1 month after surgery. |
pmc-6525873-1 | A 7-year-old Indian-American boy was referred by his pediatric dentist for evaluation of an anterior dental crossbite caused by lingual eruption of the maxillary central incisors (). The traumatic occlusion had caused mobility and early gingival recession to the opposing mandibular central incisors. The patient's chief symptom was moderate tooth pain during mastication. His medical history was normal and healthy, with no family history of prognathism.
Intraoral examination revealed a pseudo-Class III malocclusion in the early mixed dentition. Both maxillary central incisors were partially erupted and positioned in an anterior crossbite to the mandibular central and left lateral incisors. The patient displayed an end-to-end incisal relationship when the mandible was positioned into centric relation (CR). The mandibular central incisors displayed 3 mm of gingival recession compared to the mandibular right lateral incisor that was not in crossbite. These teeth also exhibited +2-degree mobility and were sensitive to palpation. The extraoral examination showed a slightly concave profile, with no apparent facial asymmetry.
Cephalometric analysis revealed a mild Class 3 skeletal relationship (ANB = 0°) in centric occlusion, with a short midface length (Co − A = 71.5 mm) and a normal mandibular length (Go − Gn = 67.1 mm) (). The maxillary central incisors were retroclined (U1 − SN = 94°) while the mandibular central incisors displayed proper angulation (L1 − MP = 98°). Accordingly, the upper lip was set back too far (Upper Lip to E − Plane = −4 mm). The panoramic radiograph revealed a full complement of adult teeth.
The treatment objectives were to achieve positive overlapping of the anterior teeth and eliminate the traumatic occlusion to the mandibular incisors. The parents were informed that waiting to intervene until adolescence could result in further tooth mobility and gingival recession.
The family was presented the following 3 treatment options, ranging from the most comprehensive to conservative:
Upper and lower fixed partial braces on the permanent molars and incisors A removable orthodontic appliance, such as an upper Hawley bite plate with a finger spring or a mandibular inclined plane Bonding of a functional resin turbo in the absence of fixed or removable orthodontic appliances
The first option would enable space consolidation and detailing of the maxillary incisors, but it would have the disadvantages of increased cost and treatment duration. The family also was nervous about whether their child could cope with the discomfort of brackets and bands at his age. The second option would correct the crossbite without braces, but the treatment's success would depend on the patient's compliance in wearing the removable retainer. Therefore, the family chose the third option of bonding a functional resin turbo to provide a noncompliant alternative in the absence of braces.
The turbo material chosen was Triad® Gel, which is an acrylic resin liquid that is used traditionally to create bite plates and modify dental casts (). It is composed primarily of methacrylate mixed with a small amount of silica glass (WT 1-10%). Triad® Gel is packaged in small tubes and comes in four assorted colors: clear colorless, clear pink, clear blue, and clear red.
The Triad® Gel was bonded to the teeth with a standard etch and prime technique (Figures –). First, the mandibular central incisors were prepared by rubbing the facial and incisal surfaces with a self-etch adhesive L-Pop™. The Triad® Gel was then applied incrementally with a microbrush and light-cured. The material was built vertically, beginning from the facial surfaces, and extended lingually. Both incisors were bonded together to provide stabilization. A handpiece was then used to create the upward sloping lingual bevel ().
The occlusion was tested to ensure the turbo was at the appropriate height and thickness. If the material was too high, the patient would be uncomfortable while eating. Most importantly, if the material did not extend far enough lingually, the patient could simply posture his mandible forward and close fully into an underbite in centric occlusion. The family was informed that it would take several days for the patient to become accustomed to having the turbo in his mouth.
The patient returned to the office for his first checkup after 3 months, and the crossbite had fully corrected (). The disclusion caused by the functional turbo had also allowed the maxillary central incisors to further erupt. During this appointment, the Triad® Gel was removed with a handpiece. The mandibular central incisors were no longer pathologically mobile or sensitive to palpation. Successful interceptive orthodontic treatment was completed in 1 visit, in the absence of fixed or removable orthodontic appliances.
At the end of the treatment, the patient achieved positive overlapping of the anterior teeth (overjet = 4 mm), and his facial profile also was less concave (). Cephalometric superimpositions showed that the maxillary central incisors had protruded and proclined 4 mm and 9°, respectively (). The upper lip also moved forward 3 mm, into an ideal position (). The family was pleased with the improved smile esthetics and bite closure. The patient was placed on a 6-month recall schedule to monitor the eruption of his remaining permanent teeth and the readiness for comprehensive orthodontic treatment. |
pmc-6525919-1 | A 47-year-old woman with a 4-day history of chest pain, which had begun directly after emotional stress (air travel), was transferred to our clinic from another hospital. The patient was normosthenic, had practiced gymnastics in youth, and had no signs of joint hypermobility syndrome or other connective tissue disorder. She had smoked for a long time and had arterial hypertension grade 2. She had never experienced chest pain before and was very active in her everyday life.
An electrocardiogram upon admission to our clinic revealed a sinus rhythm with a 2 mm ST elevation in leads II, III, aVF, V3-V5, “-” and T V3-V5 (). On echocardiography, an apex dyskinesis was found; the left ventricle ejection fraction was 56%. The level of cardiac troponin-I was 13.2 ng/mL, confirming the development of acute myocardial infarction. We analysed the first angiogram, which had been performed in another clinic. It revealed 70–75% smooth extended narrowing in the middle segment of the left anterior descending artery, and no signs of atherosclerosis in the proximal segment of LAD or the remaining arteries were found. Side branches were absolutely normal as well (). It looked like a subintimal hematoma. We repeated the coronary angiography upon admission on day 4; the extension of the culprit lesion to the distal segment of the LAD was observed (). Because of the high risk of intima rupture, intravascular visualization was not performed. This finding on the second angiogram confirmed our initial suspicion and corresponded to SCAD type 2.
Considering that the association of SCAD and FMD is a well-known fact, we performed angiography of the renal and carotid arteries []. In the mid and distal portions of the renal arteries, alternating dilatation and constriction (string-of-beads) were observed (), confirming a diagnosis of fibromuscular dysplasia (FMD). The patient received conservative treatment only (metoprolol 25 mg/day and aspirin 75 mg/day). In two months, a follow-up visit took place. The patient had no episodes of chest pain or dyspnea. Repeated coronary angiography revealed absolutely normal coronary arteries (). |
pmc-6525968-1 | A 49-year-old Japanese man noticed a mass in the right parotid gland without pain. There was no history of weight loss, fever, or night sweats. Ultrasound examination demonstrated that the tumor was a solid mass about 2 cm in diameter. T1-weighted magnetic resonance imaging showed a low-intensity, well-defined mass in the right parotid gland unaccompanied by lymph node swelling (Fig. ). Abdominal computer tomography (CT) and whole-body positron emission tomography (PET) scan revealed no other tumor elsewhere. Although fine-needle aspiration was performed several times, it was difficult to obtain tumor cells for diagnosis, except for cells from normal salivary glands. Superficial parotidectomy was therefore performed and the tumor was successfully resected without facial nerve paralysis. After parotidectomy, the patient received radiotherapy and is currently alive and well with no evidence of recurrence after 3 years.
Grossly, the tumor occupied the superficial lobe of the right parotid gland, and was solid and firm, measuring 2.7 × 2.7 × 2.3 cm. It was well circumscribed without a fibrous capsule, and the cut surface was grayish tan in color showing some lobulation at the tumor borders (Fig. a). Macroscopic necrosis or intratumoral hemorrhage was not evident. Histologically, the tumor predominantly showed a border that was well-defined from the surrounding tissue, although it was focally infiltrative in some areas. There was no fibrous capsule around the tumor. The tumor was composed of sharply demarcated cellular nests of various-sizes, growing in a paucicellular fibromyxoid or collagenous stroma (Fig. b). The tumor cells were round to polygonal and small to medium-sized, with scant cytoplasm and hyperchromatic irregular round nuclei with granular chromatin (Fig. c). Tumor cells with clear cytoplasm were also found in tumor nests, but rhabdoid cells were not identified. Apoptotic bodies were occasionally found, but necrotic foci were not evident. Venous invasion was detected (Fig. d). Some non-neoplastic salivary ducts were found between tumor nests, demonstrating that the tumor infiltration had extended within the parotid parenchyma. There was no evidence of regional lymph node metastasis.
An immunohistochemical study was performed using formalin-fixed paraffin embedded (FFPE) sections of representative tumor blocks, using the antibodies summarized in Table . The tumor cells were positive for cytokeratin (AE1/AE3, CK8/18), EMA, vimentin, desmin, and focally positive for CD56 (Fig. e). Desmin immunoreactivity showed a diffuse cytoplasmic pattern for the most part, as well as a paranuclear dot-like pattern in a smaller proportion of the tumor (Fig. f). The cells were negative for chromogranin A, synaptophysin, S100 protein, CK5/6, p63, CD99 (MIC2), GFAP, and CD117 (KIT). They were also negative for calponin and α-smooth muscle actin (αSMA), in contrast to the positivity shown by myofibroblast-like spindle cells in the stroma. The Ki-67 labeling index was almost 50%. For WT1, the tumor cells showed strong nuclear staining with an antibody recognizing the C-terminal region of WT1 (C-WT1) (polyclonal, Abnova). However, neither of two N-terminal antibodies (N-WT1), WT49 (Leica) nor 6F-H2 (Dako), elicited positive nuclear staining, although the latter showed nonspecific cytoplasmic staining, (Fig. a-c).
Dual-colored fluorescence in situ hybridization (FISH) analysis using EWSR1 break-apart probes (Abbott Molecular, Abbott Park, IL) on FFPE tissue detected EWSR1 split signals in 94% of the tumor cells (Fig. d). We then performed 3′/5′ expression imbalance assay based on reverse transcription polymerase chain reaction (RT-PCR) according to the methods described by Suehara et al [], in order to determine whether aberrant WT1 gene expression was present. The result clearly showed that 5′-regional expression of the WT1 gene was lacking in the tumor (Fig. e), being consistent with absence of immunoreactivity with the N-WT1 antibody at the protein level revealed by immunohistochemistry (Fig. b-c). To confirm these gene alterations, RT-PCR for the EWSR1-WT1 fusion gene was performed using a forward primer (5′-TCCTACAGCCAAGCTCCAAGT-3′, EWSR1 exon 7) and reverse primer (5′-ACCTTCGGTTCACAGTCCTTG-3′, WT1 exon 8) []. This revealed the characteristic EWSR1-WT1 fusion gene (Fig. f). |
pmc-6525978-1 | A 66-year old male initially presented with a huge left neck mass, shortness of breath, and gradual weight loss of 6 kg over 3 months. (Additional file : Table S1). His pre-operative evaluation demonstrated tracheal stricture with marked deviation by imaging studies, serum thyroglobulin (sTg) 10,470.75 ng/ml (normal < 50), and negative thyroglobulin antibody (Tg-Ab) in November 2014. Radical total thyroidectomy was done in January 2015 and verified multifocal papillary carcinoma (mixed follicular variant and focal insular/solid variant) 8.4 × 4.3 × 4.0 cm in size with lymphovascular invasion and extrathyroid extension to the muscle (Additional file : Figure S1), negative for BRAF V600E gene mutation. Radioiodine 200 mCi was administered in March 2015 to document stage 4c (T3N1bM1) with bilateral lung metastases. He was kept on TSH suppression and closely followed every 2~3 months. However, brain metastasis developed with a presentation of hand tremor and headache and was documented by magnetic resonance imaging (MRI). Focal neck lymph node metastases were also detected by ultrasound and echo-guided single lymph node aspiration for Tg 1522.2 ng/mL in April 2016. A second dose of radioiodine 200 mCi was administered in June 2016 and displayed a massive radioiodine-avid lesion over the bilateral lower neck, mediastinum, right occipital region, and bone (T1 and ninth rib). External beam irradiation therapy (3750 cGy divided in15 fractions) was completed focusing on the metastatic brain lesion in May 2016. However, his disease still progressed with gradual elevation of the sTg (1833.4 to 2799.3 ng/mL). Therefore, lenvatinib 24 mg was started by compassionate access in October 2016 (22nd month). The serum thyroglobulin significantly declined to 161.99 ng/ml 2 months later. Because of intolerable side effects, he was kept on a lenvatinib dosage of 5~14 mg/d. The third course of 200 mCi radioiodine therapy was then conducted in March 2018 because of a gradual increase in tumor burden detected by sTg and bone metastases. The radioiodine whole-body scan revealed interval regression of the radioiodine-avid nodal metastasis over the neck/mediastinum and right occipital region but interval progression of distant metastases over the T spines, manubrium, ischium, and iliac bone. He eventually progressed into an unavoidable status of TKIs “escape phenomenon” but is still alive.
His treatment strategy was summarized and compared for sTg and by imaging studies over 4 years (Fig. ). The dynamic sTg was not consistently dependent on TSH level but correlated well to the treatment modalities, including radioiodine and lenvatinib. The brain MRI clearly revealed marked shrinkage of the metastatic tumor from 2.5 to 1.3 cm after treatment. The 18FDG-PET/CT scan done in July 2018 clearly demonstrated stable disease for the brain metastasis but progression to multiple bone metastases with FDG uptake over the sternal manubrium, ribs, right ischium, iliac, left femoral shaft, and spines (L2, T4–5). A spinal MRI performed in December 2018 documented multiple metastases at the C7, T1–T6 vertebral bodies, which indicated disease progression dissociated with declining sTg. |
pmc-6525978-2 | A 45-year old male came for help because of a rapidly-growing neck mass combined with dyspnea, cyanosis, and gradual weight loss of 20 kg (96 to 76) within 1 year (Additional file : Table S2). His pre-operation evaluation revealed euthyroid status, sTg 7560 ng/mL, and negative Tg-Ab. His chest X-ray and CT scan displayed huge thyroid nodular goiters mixed with bilateral grouping lymphadenopathy and diffuse infiltrating nodules with calcification over both lungs. Wide excision of the bilateral thyroid mass with bilateral lymph node dissection was done on April 25, 2017, and documented papillary carcinoma (solid variant, sized 5.3 cm with lymphovascular invasion, extensive extrathyroid extension to adjacent organs and tissues and perineural invasion, T4aN1bM1, stage 4c) with tumor invasion to bilateral recurrent laryngeal nerve but negative for BRAF V600E gene mutation (Additional file : Figure S2). After operation, respiratory failure ensued and the patient was supported by respirator. Tracheostomy was done to preserve a patent airway 3 days later. Since sTg soared up to 36,300 ng/mL and the patient could not be weaned off the respirator, lenvatinib 20 mg/d was initiated on May 11, 2017. Dramatically, he was successfully weaned off the respirator 1 week later in parallel with an obvious drop of sTg to 10,436 ng/mL. He was well-trained for independent care of his tracheostomy T-tube, and radioiodine 200 mCi was scheduled 3 months later. The radioiodine-avid lesion was localized over the neck and bilateral lungs. The tracheostomy T-tube was then removed 1 month later since his condition had greatly improved, with a stationary sTg level of 2553~2982 ng/ml based on levothyroxin suppression and a low maintenance dose of 5~10 mg/d lenvatinib. Because of the persistent tumor burden over the lungs and a budget limit for the lenvatinib, a second dose of radioiodine 200 mCi was administered on January 16, 2018. However, his sTg rose again from 1636 to 3983 ng/ml even after radioiodine therapy. Lenvatinib was therefore readministered at 5 mg/d, continued to the present. Chest X-ray and chest CT both revealed a decreased intensity of the disseminated pulmonary nodular infiltration (Fig. ). Within the treatment period (18 months), the patient has regained13 kg, can perform his daily life activities well, and tolerates a brisk walk for 40 min twice a day without shortness of breath. A third RAI 200 mCi was instituted again in December 2018 with a smooth course. His sTg level was also independent of TSH stimulation when he was maintained with lenvatinib. |
pmc-6525980-1 | An 83-year-old Asian woman was admitted to our hospital with a chief complaint of pain in the left arm after a fall and was hospitalized with a diagnosis of left humeral fracture. The patient had a medical history of anxiety neurosis and reflux esophagitis, and she had been taking medications including etizolam (0.5 mg) and lansoprazole (15 mg). She had no smoking habit or alcohol consumption. She also had no family history or employment history of note. On examination at the time of admission, her height and weight were 1.45 m and 43.0 kg, respectively (body mass index, 20.5 kg/m2). Her blood pressure was 178/86 mmHg, pulse 99 beats/minute (regular), and respiratory rate of 18/minute with oxygen saturation of 96% on room air. Her body temperature was 37.2 °C. Her physiological examination revealed no abnormalities, with the exception of arm pain. She had alert consciousness, and her neurological examination result was normal. On the day following admission, she experienced sudden onset of chest pain and palpitations associated with cold sweats and shivering. On physical examination, her heart rate, blood pressure level, and oxygen saturation were 118 beats/minute, 119/75 mmHg, and 97%, respectively. She was afebrile, and neither heart murmurs nor abnormal breath sounds were heard. Her abdominal examination showed no notable findings. Edema was not detected in either lower limb. Her consciousness level was clear, and no apparent neurological deficit was observed. An electrocardiogram (ECG) showed ST-segment elevations in II, III, aVF, and V3–V6 leads. Her creatine kinase (CK) and N-terminal pro-B-type natriuretic peptide (NT-proBNP) levels were 519 U/L (normal range, 30–170 U/L) and 5435 pg/ml (< 125 pg/ml), respectively. Her qualitative troponin T was positive. Two-dimensional TTE using speckle tracking (Vivid E9; GE Healthcare, Horten, Norway) with an automated function imaging technique provided with the commercial imaging analysis software (EchoPAC; GE Healthcare) showed akinesis of the middle and apical segments of the left ventricle with typical apical ballooning and hyperkinesis of the basal segments (Fig. ), whereas no thrombus was observed in the apex of the left ventricle. Emergent cardiac catheterization was performed, and apical akinesis of the left ventricle without explanatory severe coronary stenosis was observed during the procedure. On the basis of these findings, the patient was diagnosed with TCM.
On the seventh hospitalization day, although LV wall contraction slightly improved compared with the findings on admission, an approximately 10-mm thrombus was detected in the apex of the left ventricle by TTE (Fig. ). Therefore, continuous intravenous administration of unfractionated heparin was initiated to maintain the activated partial thromboplastin time value 1.5–2.0-fold higher than the control value, and warfarin therapy was simultaneously initiated to maintain the prothrombin time international normalized ratio (INR) between 2 and 3. Anticoagulant therapy with warfarin was continued for 1 week until complete resolution of the apical thrombus (Fig. ), and follow-up TTE confirmed that the systolic function of the left ventricle was completely recovered (Fig. ). About 2 months after the admission, the patient was discharged to a retirement home for the elderly with a serum CK level of 47 U/L and a serum NT-proBNP level of 408 pg/ml. During the 7-month follow-up after discharge, no signs of TCM recurrence were observed, and the patient’s condition was stable. |
pmc-6525980-2 | A 57-year-old Asian woman was referred to our hospital by her primary doctor because of persistent chest discomfort for 3 hours at rest. She had experienced similar symptoms intermittently in the previous 6 months. She had a medical history of hypertension and pneumonia. Her medication profile included valsartan 80 mg, amlodipine 5 mg, indapamide 0.5 mg, each taken once per day. She had no smoking habit, alcohol consumption, or family history of cardiac disease. She worked as a cook and transferred to her current workplace 1 year ago. She had experienced about 6 months of increasing work-related mental stress in a new managerial role. On physical examination, her pulse rate, blood pressure, and oxygen saturation were 88 beats/minute (regular), 119/84 mmHg, and 100%, respectively. Her body temperature was 36.2 °C. A grade 3/6 holosystolic murmur could be heard at the apical heart area as the loudest, whereas friction rubs and gallops were not heard. The rest of the examinations, including respiration and abdomen, were unremarkable. Edema was not detected in either lower limb. She was awake, alert, and oriented. Her neurological examination on admission did not reveal any motor or sensory deficit, and her cranial nerves were normal. ECG showed ST-segment elevation in V5 and V6 leads. The main laboratory findings were as follows: troponin T 1.04 μg/ml (normal range, < 0.1 μg/ml), CK 543 mg/dl (43–165 mg/dl), and NT-proBNP 2441 pg/ml (< 125 pg/ml). TTE showed apical LV wall akinesis with basal hyperkinesis and severe MR. She underwent an emergent cardiac catheterization. Coronary angiography showed no obstruction, and left ventriculography revealed an ejection fraction (EF) of 67.8%, severe localized apical hypokinesis with hyperkinesis of the basal segment, and grade 3 severe MR. Further two-dimensional echocardiographic examination with speckle tracking on the admission day demonstrated severe LV apical systolic dysfunction (EF, 59.7%) (Fig. a), severe MR caused by tethering of the anterior leaflet (Fig. b and c), and elevated pulmonary artery systolic pressure (38.5 mmHg), whereas neither left ventricular outflow tract (LVOT) obstruction nor systolic anterior motion (SAM) of the mitral valve was observed. The tenting length of the anterior mitral leaflet was 1.6 cm. On the basis of the aforementioned findings, the patient was diagnosed with TCM with a complication of severe MR. Because the hemodynamics of this patient were preserved, she could be managed with conservative observational treatment. The patient had an uneventful clinical course and was discharged in stable condition on the eighth day after admission. Follow-up TTE performed after 1 month revealed that tethering MR was almost resolved with complete resolution of LV wall motion abnormalities (Fig. ), and laboratory data after 2 months were improved, with decreases in CK (154 mg/dl) and NT-proBNP (541 pg/ml). The patient had not experienced any apparent symptoms in 7 months of follow-up after discharge and had not been rehospitalized for the recurrence of TCM. |
pmc-6526286-1 | A 74-year-old man underwent TAPP for a left indirect inguinal hernia (M2, according to EHS classification) with a Parietex (Medtronic plc. Dublin, Ireland) mesh measuring 13 × 9 cm. Recurrence was confirmed 5 years postoperatively. To diagnose the type of recurrence and clarify the location of the defect, the orifice was inspected using laparoscopy and a 2-cm indirect hernia was detected inferior to the lower edge of the mesh (a and b). Next, the skin was incised for the anterior open approach. The inguinal canal was opened in a standard manner, and the hernia sac was identified under increased pneumoperitoneum. After isolating the tissues surrounding the hernia sac, adequate space was secured in the preperitoneal cavity to insert a plug. Then, the plug was inserted into the defect following sac invagination under reduced pneumoperitoneum. An XL-sized PerFix (BD, Franklin Lakes, NJ, USA) plug (height 3.8 cm, diameter 5.1 cm) was fixed to the transverse fascia and the previous mesh with six interrupted stitches using absorbable sutures. Finally, the overlap was confirmed to sufficiently cover the myopectineal orifice, and the plug was inverted under the peritoneal membrane using laparoscopy with increased pneumoperitoneum (). The entire operation time was 1 h and 58 min. No complication was reported in the postoperative course nor was re-recurrence at 3 months postoperatively. |
pmc-6526288-1 | A 60 year old Caucasian male patient was referred to general surgery for multiple unrelated complaints including umbilical hernia and left arm lipoma. The patient also had an additional complaint of a fast-growing right leg mass located on upper lateral right calf distal to the knee. The patient had no other suspicious skin lesions and admitted to having the lesion shave biopsied two years prior by dermatologist with benign findings. No picture was taken of the lesion prior to surgical intervention as it was expected to be benign based upon prior dermatological findings. The patient stated that the leg lesion was non-painful in nature but was concerned that it may have increased in size over the previous 2 months and had a brown-gray discoloration. No prior imaging was obtained for the leg lesion. A wide margin elliptical excision was performed with a minimum goal of 1 cm margins on all sides of the lesion and the depth was resected to the muscle layer. The full specimen was marked for orientation and submitted to pathology. The excised elliptical portion measured 4.3 cm in length and 2.5 cm in width at widest points. The nodular lesion measured 2.4 × 1.8 × 0.9 cm. Ancillary studies showed that the lesion was CD31 positive, CD34 positive, and negative for cytokeratin markers. The pathology report confirmed EHE with tumor close to circumferential margins and present at the deep margin. The lesion was staged as pT1a pNX in accordance with AJCC staging. Given the deep margin extending to the thin layer of muscle just distal to the knee, the patient was referred to orthopedic surgery for further evaluation and operative intervention. The mainstay of treatment for invasive sarcoma is surgery often coupled with radiation and/or chemotherapy. A second surgical excision 19 days later following the original surgery was performed into deeper tissue. The second lenticular ellipse measured 8.1 cm in length and 2.1 cm in width at widest points at a depth of 1.4 cm. Multiple frozen sections were examined and clean margins of a minimum of 1 cm was determined in all directions.
Due to the diagnosis of EHE, it was prudent to obtain additional imaging to determine if the malignancy had metastasized. Although incredibly rare, there have been documented cases of pulmonary epithelioid hemangioendotheliomas, as well as cases of tumors found on the liver. A CT scan was performed with IV and oral contrast of the chest and abdomen. The findings were unremarkable for the chest but multiple hepatic cysts and an enhancing lesion in the right lobe of the liver were identified. A follow up MRI with and without gadolinium confirmed a 2 cm well-defined focal area of delayed enhancement within the posterior segment of the right lobe of the liver corresponding to the CT findings, likely representing a cyst and not a metastatic lesion. These findings suggest that no metastasis had occurred and that the leg skin lesion appeared to be the primary site of EHE. |
pmc-6526292-1 | A 22-year-old man presented symptoms of chronic upper gastrointestinal bleeding. Endoscopy () showed massive gastric polyposis, while colonoscopy showed a few polys (). At first, endoscopic polypectomy was executed, but due to the progressive symptoms, a total gastrectomy was then performed (). Histology confirmed massive gastric juvenile polyposis. |
pmc-6526463-1 | A 49-year-old woman without a smoking history was referred to our hospital for a detailed examination of an abnormality detected by routine chest X-ray. The patient was asymptomatic; however, her chest computed tomography (CT) revealed a right upper lobe (RUL) pure ground-glass nodule (GGN) in segment (S) 3, a 13-mm diameter right lower lobe (RLL) nodule in S9, and a 47-mm diameter left upper lobe (LUL) mass in S1 + 2 invading S6 across the interlobar pleura, without enlarged bilateral mediastinal lymph nodes (Fig. ). A positron emission tomography-CT (PET-CT) scan showed maximum standardized uptake values of 2.3 and 6.8 in the RLL and LUL lesions, respectively. Brain contrast-enhanced magnetic resonance imaging and PET-CT did not detect any metastatic lesions, including mediastinal lymph node metastases. The whole-body examination showed that there was no tumourous lesion other than the RUL-pure GGN, RLL nodule, and LUL mass. Laboratory screening of specific tumour markers, such as carcinoembryonic antigen (1.4 ng/mL), cytokeratin fragment (1.5 ng/mL), and progastrin-releasing peptide (58.0 pg/mL), did not yield significant results. We performed transbronchial biopsy under X-ray fluoroscopy guidance for the LUL mass and biopsy for the RLL nodule using endobronchial ultrasonography with the guide sheath method. We obtained an adequate amount of tissues for evaluation; however, the pathological findings of the two tissues (RLL nodule and LUL mass) indicated the same type of papillary adenocarcinoma (thyroid transcription factor 1- and napsin A-positive), making it impossible to distinguish the advanced-stage (stage IV) lung cancer from the surgery-eligible multiple lung cancers. However, the EGFR mutation screenings of the two samples demonstrated discordant positive exon 21 L858R mutation in the LUL lesion and positive exon 19 deletion in the RLL lesion; thus, a diagnosis of simultaneous multiple lung adenocarcinomas indicated for surgery (left lung adenocarcinoma cT2bN0M0-cStage IIA + right lung adenocarcinoma cT1bN0M0-cStage IA2) was made (Fig. ).
We referred the patient to a thoracic surgeon in the neighbouring hospital, and she underwent partial resection of the RLL and resection of the LUL together with the S6 area plus node dissection (2a-1) as the primary surgery. The surgical time was 5 h and 2 min. The macroscopic findings of the resected specimens were as follows: pleural indentation by the RLL tumour was identical; however, the visceral pleura was intact (Fig. A). Invasion of the LUL tumour into the S6 area was observed; however, it was not exposed externally, and the visceral pleura was intact (Fig. B, C). The final pathological diagnosis and staging of the LUL tumour was invasive micropapillary predominant adenocarcinoma (pT2bpN0) and that of the RLL tumour was invasive papillary adenocarcinoma (pT1bpNx). EGFR mutation screening results with surgically resected specimens were also discordant and compatible with those we obtained before surgery. The post-operative course was uneventful, and the patient was discharged 16 days after the surgery with post-operative adjuvant chemotherapy comprising oral tegafur/uracil and scheduled follow-up of the remaining pure GGN in the right RUL. |
pmc-6526519-1 | A 57-year-old woman presented to the emergency department with acute abdominal pain and nausea. She reported a two-month history of vomiting, postprandial epigastric pain, and weight loss. Past medical history included osteoarthritis, arterial hypertension, and hypothyroidism.
On physical examination, the abdomen was soft and there was no sign of peritonitis. Laboratory studies at admission showed neutrophilic leukocytosis, increased C-reactive protein (CRP), and anemia. Serum electrocytes were within normal limits, while urine examination was clear. No abnormal findings were detected on chest and abdomen radiography. The ultrasound (which was performed as an initial radiologic test in order to check the upper abdomen and confirm or exclude common diseases such as gallstone cholecystitis) revealed a hypoechoic construction with a diameter of 5.6 cm, located at the pyloric antrum.
The patient underwent upper gastrointestinal endoscopy twice, and histopathological examination of biopsy specimens was performed. The lesion appeared to be approximately 6 cm in diameter, obstructing the pyloric antrum and arising from the submucosa or deep mucosa, with well-defined borders (Figures and ). All biopsies were inconclusive most probably due to the submucosal location of the lesion and showed mild-to-moderate inflammation of the gastric mucosa with fibropurulent exudate.
An abdominal CT scan with administration of oral contrast was performed. It demonstrated a large intraluminal soft tissue mass arising from the pyloric antrum, measuring 6 × 4.8 cm with well-defined borders ().
Laparotomy was performed. Through gastrotomy, a propyloric tumor obstructing the antrum was discovered and the lesion was totally excised with macroscopically clear margins. After frozen section biopsy had been performed, the tissue was determined to be suggestive of gastrointestinal stromal tumor (GIST), and the surgery was completed with the occlusion of the gastrotomy. The postoperative course was unremarkable, and the patient was discharged after 8 days in good condition.
Postoperative macroscopic examination of the specimen showed a firm 5 × 4.5 × 4 cm mass partially covered with gastric mucosa. Histopathological analysis showed a myofibroblastic tumor with inflammatory infiltration comprising mainly eosinophils. Among the fibroblasts, blood vessels with concentric arrangement of tumor cells were conspicuous. The benign nature of the mass alongside its submucosal location could not cause easily vessel rupture, explaining the absence of gastrointestinal bleeding despite the size of the finding. |
pmc-6526544-1 | A 64-year-old-man presented to the Emergency Department of Venizeleio Hospital, Heraklion, Crete, with a 3-day history of nausea, vomiting, and abdominal pain. His medical history included type 2 diabetes and hypertension. He had had type 2 diabetes for 10 years and was being treated at the time with vildagliptin, metformin, and dapagliflozin. Dapagliflozin was added 8 months prior to admission. He reported a weight loss of 3 Kg following the commencing of dapagliflozin, but his weight appeared stable during the last 3 months. The A1C was 7.1% one month before admission. The patient noted that he suffered from recurrent episodes of abdominal pain the last 2 months.
At presentation the blood pressure was 130/80 mmHg, heart rate 95 beats/min, temperature 36.8°C, and oxygen saturation 98% on ambient air. The patient appeared mildly dehydrated with a BMI of 26.5 kg/m2. The abdomen was soft with mild tenderness in the epigastrium and left upper quadrant. The remainder of the physical examination was normal.
An arterial blood gas analysis was performed and revealed metabolic acidosis pH 7.33, HCO3− 10.9 mEq/L, and PCO2 21 mmHg with an increased anion gap at 29 mmol/L. Plasma glucose was mildly elevated at 203 mg/dL. Serum lactate was 1.1 mmol/L, i.e., within normal range. The rest of laboratory investigation was as follows: white blood cells 7860/μL, hemoglobin 14.8 g/dL, serum urea 84 mg/dL, serum creatinine 1.33 mg/dL, Na+ 134 mmol/L, K+ 4.6 mmol/L, and Cl− 94 mmol/L. C-reactive protein level was moderately elevated at 8 mg/dL. Urinalysis showed glycosuria and ketonuria (glucose 4+, Oxone 4+). Measurement of serum ketones was not available.
The patient was diagnosed with euDKA possibly related to dapagliflozin use and was treated with intravenous fluids and insulin, with subsequent improvement of acid base disorders within the first 48 hours. He was also treated empirically with broad spectrum antibiotics. A computed tomography (CT) scan of the abdomen/pelvis with IV contrast was ordered to further evaluate the cause of the abdominal pain. The CT scan revealed ascending and transverse colonic dilatation proximal to a transition point in the splenic flexure and decompressed bowel distal to the obstruction, highly suspicious of colonic malignancy. Colonoscopy was then performed which showed splenic flexure cancer. The patient was transferred to the surgical clinic and underwent left hemicolectomy. He was discharged from the surgical clinic on the 9th postoperative day in good condition. Dapagliflozin was discontinued and basal-bolus insulin treatment was prescribed. |
pmc-6526558-1 | The patient was a 50-year-old lady who presented to the emergency department with a two-day history of colicky right upper quadrant (RUQ) pain which radiated through to her back. This pain was associated with anorexia, nausea, and two episodes of vomiting that day. The patient reported having a normal bowel motion the previous day and reported passing flatus that day. She denied any pale stool, diarrhoea, or dark urine. She had no significant past medical or surgical history and was on no regular medication.
On physical examination, her abdomen was slightly distended, soft, and tender in the RUQ with reduced bowel sounds. She was Murphy's sign negative. Her vital signs were all within normal limits.
Her blood tests () were notable for an elevated white cell count of 18.2 × 109/l.
Initial impression was that of acute cholecystitis, and an ultrasound scan revealed a gallbladder with no evidence of cholelithiasis or cholecystitis (). The scan, however, did reveal a large volume of intra-abdominal free fluid ().
In light of this finding, we obtained a computed tomography (CT) scan. This scan identified multiple dilated loops of small bowel, consistent with small bowel obstruction (), and twisting of the small-bowel mesentery around the axis of the superior mesenteric artery (SMA) in a classic whirl sign consistent with midgut volvulus ().
In light of these findings, it was decided to proceed to laparoscopy. During laparoscopy, there was a large volume of ascitic fluid throughout the abdomen. The distal small bowel was collapsed with the proximal portion distended. No volvulus was encountered. There were scattered haemorrhagic areas identified along the small bowel. Evaluation for a cause of the midgut volvulus, including a particularly long mesentery, did not yield any results.
The patient was gradually returned to a normal diet and was discharged home on postoperative day two with no long-term complications at 6-month review at the clinic. |
pmc-6526562-1 | A 40-year-old Caucasian woman presented to her primary physician with recurrent fevers, chills, wheezing, and cough. She was a welder by profession and had a long history of respiratory symptoms and allergies. She was treated with a course of antibiotics for a presumed pneumonia. When her cough and other symptoms persisted, a chest X-ray was performed and showed a curvilinear abnormality alongside her right heart border consistent with scimitar syndrome (). Upon further review of history, the patient endorsed worsening shortness of breath over the past year and occasional palpitations with exertion, but denied symptoms with normal activity. She had recurrent pulmonary infections and asthma/allergy episodes throughout childhood and adult life. Physical exam showed normal jugular venous pressure (JVP). She had a parasternal heave but her apex was not localized. The heart sounds were normal and she did not have any murmurs.
Echocardiogram showed dilatation of the right atrium and right ventricle with and interatrial shunt consistent with a patent foramen ovale (PFO). Ejection fraction was normal.
Computed tomography (CT) of the chest () showed a hypoplastic right upper lobe and compensatory large right lower lobe. There was a large right pulmonary artery with a large arteriovenous malformation (AVM) from the pulmonary artery into the anomalous scimitar vein which attached to the inferior vena cava. The majority of the right lung pulmonary venous return was to the inferior vena cava via the scimitar vein. A single small vestigial inferior pulmonary vein on the right extended to the left atrium. The left pulmonary veins drained normally into the left atrium.
Transthoracic echocardiography (TEE) confirmed right atrial and right ventricular dilatation and normal left pulmonary venous return into the left atrium. There was an atretic right inferior pulmonary vein opening into the right atrium. The right lower pulmonary vein was not visible by echocardiography. A PFO was confirmed by color Doppler and agitated saline injection.
Cardiac catheterization showed normal coronary arteries and normal left ventricular end-diastolic pressure. The PFO allowed easy passage of the multipurpose catheter into the left atrium. Pulmonary angiography, aortogram, and scimitar venography were also performed using a 6F pigtail catheter. Right pulmonary artery angiogram identified partial anomalous pulmonary venous return via scimitar vein to the IVC (). The patient was referred for surgical correction due to persistent shunt and recurrent pulmonary infections. Upon multidisciplinary review of the case, the traditional approach of reimplanting the anomalous scimitar vein into the left atrium was deemed to carry excessive risk and was therefore deferred. After review of the patient's CT imaging, a simplified interatrial baffle redirecting the anomalous pulmonary venous blood to the left atrium was pursued. |
pmc-6526563-1 | A 65-year-old female patient who presented with a lip-palate cleft previously underwent a surgical procedure to close the lip-palate cleft. However, even after this procedure, the patient had a clearly atrophic maxilla (class V of Cawood and Howell) and had difficulty adapting to a total removable of prosthesis. Due to the small amount of bone remaining and extensive fibrous tissue in the palate region, rehabilitation with conventional implants associated with zygomatic implants was chosen instead of subjecting the patient to a reconstruction with large bone grafts (). For the preoperative evaluation, panoramic radiography and cone-beam computed tomography of the maxilla and zygomas were requested, which confirmed the low bone availability in this case (Figures and ). Two zygomatic implants and a conventional implant were placed in the right side, and one zygomatic implant and one conventional implant were placed in the left side under general anaesthesia and nasotracheal intubation. Zygomatic implants with the Cone Morse platform (Neodent®, Curitiba, Brazil) and conventional implants with the Cone Morse platform and a hydrophilic surface (Acqua surface, Neodent®, Curitiba, Brazil) were used. Of these implants, a zygomatic implant with 4.4 × 52.5 mm was installed in the region of tooth 12, a 4.4 × 40 mm zygomatic implant was installed in the region of tooth 16, a zygomatic implant with 4.4 × 52.5 mm was installed in the region of tooth 26, and two conventional conical implants with 3.5 × 11.5 mm were placed in the region of teeth 14 and 23. Furthermore, more than 60 N·cm of insertion torque was obtained during the placement of all the implants.
During the milling of the surgical site, the following sequence of drills was used: spherical drill zygomatic plus 2, spiral drill 2.7 zygomatic plus, pilot spiral drill zygomatic plus 2.7/3.3, spiral drill zygomatic plus 3.3, pilot spiral drill zygomatic plus 3.3/3.7, and countersink drill for Cone Morse zygomatic implant placement, and then the implant installation was performed. A surgical guide was used during the implant surgical site preparation. An antibiotic (amoxicillin) was given intraoperatively and maintained for seven days. Miniabutments were selected and installed at the time of surgery. After 24 hours, the castings were performed, and 48 hours after surgery, a screwed fixed-implant protocol prosthesis with CrCo infrastructure and acrylic teeth was installed on the implants. During the postoperative period, radiographic and clinical examinations showed that there were no complications (Figures and ). The patient underwent follow-up after 15, 30, and 90 days and then every six months thereafter. Currently, the patient has been followed up for two years without any complaint and with a functional prosthesis (Figures –). Furthermore, the patient expressed satisfaction with the obtained aesthetic and functional outcome. The patient gave the researchers a signed consent for the publication of this case. |
pmc-6526567-1 | In April 2017, a 50-year-old man with irrelevant past medical history started to report nocturnal low-grade fever and low back pain. He empirically received a short course of antibiotics but fever occasionally relapsed. During the following weeks, the patient experienced progressive dyspnea that led him to the local emergency department (ED). At the arrival in the ED, the patient was febrile (38.2°C), and his laboratory exams showed marked leukocytosis (WBC = 22.9 G/μL, 77% neutrophils), mild anemia (Hb = 10.6 g/dL), and increased C-reactive protein (CRP = 11.2 mg/dL).
A transthoracic echocardiography showed a massive aortic insufficiency with evidence of multiple vegetations on the free edge of the aortic cuspids. Two sets of blood cultures were performed in the ED, and G. adiacens grew both from aerobic and anaerobic blood bottles after 17 and 21 hours in the first set and after 17 and 22 hours in the second set, respectively. Blood cultures (BACT/ALERT FA Plus and BACT/ALERT FN Plus) were processed using the BACT/ALERT system (bioMèrieux). Agar MHF for fastidious organism plates was incubated in 5% CO2 at 35–37°C for 48 hours. Identification was carried out by matrix-assisted laser desorption ionization-time of flight mass spectrometry (MALDI-TOF MS) using the Vitek MS system (bioMerieux). Antimicrobial susceptibility was performed by E-test method, and MICs were reported according to PK-PD (nonspecies related) breakpoints as stated in March 2017 EUCAST Clinical Breakpoints Tables [] (). Three days after ED admission, reparative aortic surgery was performed in a local cardiac surgery unit. Subsequently, the patient underwent a CT scan of the spine for persistent back pain, and a diagnosis of L3-L4 native vertebral osteomyelitis was made. The patient was transferred in May 2017 to our clinic to continue the antibiotic course. MRI of the spine confirmed the L3-L4 native vertebral osteomyelitis and showed similar degenerative changes also in L5-S1. The patient received a total of two-week intravenous course of vancomycin 2 g/daily + ceftriaxone 2 g/daily + gentamicin 5 mg/kg/daily, followed by intravenous ampicillin 12 g/daily for two weeks. Patient's clinical conditions improved, and he was discharged with oral amoxicillin 4 g/daily for two weeks. A six-month follow-up MRI of the lumbar spine showed an initial healing of the infectious process, and the patient reported a significantly improvement of low back pain as well. |
pmc-6526567-2 | A 47-year-old man was admitted to our clinic on May 2017 with a 10-day history of fever and severe low back pain after returning from a scuba diving session in Maldives. His past medical history included hypertension and chronic back pain due to L5 disc herniation. On examination, body temperature was 38.5°C and blood pressure was 110/80 mmHg. Laboratory results showed a normal white cell formula (WBC = 10.3 G/μL, 79% neutrophils) and a raise of C-reactive protein (CRP = 16.5 mg/dL). Two sets of blood cultures were performed at admission, and G. adiacens grew both from aerobic and anaerobic blood bottles after 15 and 18 hours in the first set and after 16 hours in both aerobic and anaerobic bottles of the second set. Blood cultures (Bactec Plus Aerobic/F and Bactec Plus Anaerobic/F) were processed using the BACTEC FX system (Becton Dickinson). Identification and antimicrobial susceptibility () were carried out as in Case 1.
A transthoracic echocardiography was negative for IE. MRI of the spine showed an increased STIR signal change at the L5-S1 level suggestive for early spondylodiscitis. To determine if the morphostructural bone changes described in MRI were metabolically active, a total body FDG-PET/CT scan was performed: an intense L5-S1 standardized uptake value (SUV = 7.1) was detected (see ) and diagnosis of native vertebral osteomyelitis was made; no other metabolically active areas were detected. The patient started empirically iv vancomycin 2 g/daily plus ceftriaxone 2 g/daily for one week, and then switched to ceftriaxone alone for 3 weeks. At discharge, the patient was switched to oral amoxicillin 3 g/daily for 2 weeks. A three-month clinical follow-up was uneventful, with gradual pain reduction. The patient fully recovered; no follow-up MRI was performed. |
pmc-6526567-3 | In October 2018, a 75-year-old woman with previous mitral valvuloplasty and previous breast cancer was admitted in our clinic for persistent low back pain started three months earlier without fever. An MRI of the spine performed two days before admission showed a L4-L5 infectious process. At the admission, blood tests showed a mild anemia (Hb = 9.5 g/dL) and a mild elevation of CRP (CRP = 2.5 mg/dL). A chest CT scan revealed a right pleural effusion with bilateral parenchymal consolidation; a diagnostic thoracentesis was negative for microbial growth. At day 15, the patient became feverish, and two sets of blood cultures were performed. A. defectiva grew both from aerobic and anaerobic blood bottles after 27 and 28 hours in the first set and after 70 and 34 hours in the second set, respectively. Blood cultures processing, microbiological identification, and antimicrobial susceptibility were carried out as in Case 1. The isolated A. defectiva strain showed a reduced penicillin and ampicillin susceptibility (); thus, a glycopeptide-based antibiotic regimen was started. A transthoracic echocardiography showed a severe mitral insufficiency without evidence of vegetations. The patient refused to perform a transesophageal echocardiography. A FDG-PET/CT scan confirmed a localized metabolic uptake at the L4-L5 level (SUV = 3.5); no other metabolically active areas were detected.
The patient received initially iv vancomycin 2 g/daily, and then, she was transferred to a local cardiac surgery unit for mitral valve replacement. Because of initial renal failure, after two weeks, the patient was switched to teicoplanin 400 mg/daily according to the local infectious diseases specialist's consultation. Mitral valve culture was negative for microbial growth. Surgical follow-up was uneventful, and after three weeks, the patient was transferred to a cardiac rehabilitation unit, where she completed a six-week course of iv teicoplanin. At a six-month follow-up visit, the patient reported an initial improvement of low back pain; no follow-up MRI was performed. |
pmc-6526578-1 | A 4-month-old boy, with a healthy perinatal background, was referred to our emergency room because of five days of fever, cough, and dyspnea. Until this event, his medical history was unremarkable. Physical examination on admission showed dullness on percussion and decreased intensity of breath sounds in the right hemithorax. Blood count revealed leukocytosis (29,400/μl with 61% PMN) and elevated C-reactive protein level (5.43 mg/dl (normal < 0.5)). Chest X-ray demonstrated a large infiltration in the right upper lobe (). Hence, with a diagnosis of right lobar pneumonia, the child was hospitalized and managed with antibiotics. Under antibiotic treatment, the patient had clinical and laboratory improvement. A follow-up X-ray done a few days later showed similar findings without significant change. Moreover, due to the increased intercostal space between T6-T7 on the right (), the possibility of slow growing extrapleural mass was suggested. Computed tomography (CT) () and magnetic resonance imaging (MRI) studies () demonstrated a large multilocular cystic lesion (6.6 × 4.2 × 5.8 cm) occupying most of the right hemithorax, mainly its posterior aspect. The mediastinum was displaced to the left, but the blood vessels and bronchi in the right hilum were not compressed. No neuroforaminal involvement was seen as well. A right thoracotomy was performed revealing a few large cysts placed in the intrapleural space as well as a few small extrapleural cysts (). The masses were completely resected with a minimal extraction of the lung tissue adherent to the tumors. Histopathological examination revealed a multicystic tumor lined by a single layer of flat endothelial cells (), filled with proteinaceous fluid containing lymphocytes (). The cyst wall was composed of loose and dense collagenous tissue punctuated by small lymphoid aggregates. The endothelial lining cells were found diffusely positive for D2-40, lymphatic endothelial marker (). The outer surface of the cyst was partially covered by mesothelium, as highlighted by immunostaining with calretinin (mesothelial marker, ). The overall histological findings fit well with a diagnosis of pleural-based multicystic lymphangioma.
The postoperative course was uneventful without any complications. Today, one year after the surgery, the child feels well and his chest radiography is normal, without evidence of recurrence of the disease. |
pmc-6526580-1 | A 7-year-old girl presented with fever and swelling of the face and neck for 2 days. Symptoms were gradually progressive with dysphagia and difficulty in breathing.
Examination revealed an ill, febrile child with swelling of the face and neck with associated cellulitis. Severe mucositis was noted with trismus and drooling of saliva (). She had dental caries. Clinical condition deteriorated with severe cellulitis and formation of a deep-seated abscess in the submandibular region and resulted in stridor.
There were two hypopigmented skin lesions over the left arm with loss of thermal sensations which raised the suspicion of leprosy (). No thickened palpable nerves were identified. The underlying diagnosis of leprosy was apparent with direct questioning, and it was revealed that the child had been on rifampicin and dapsone for 2 months. Unfortunately, no cell counts were monitored since commencement of antileprosy medications.
Investigations revealed a white blood cell (WBC) count of 1,000/mm3 with an absolute neutrophil count (ANC) of zero. Blood picture revealed dapsone-induced changes with numerous bite cells, blister cells, and agranulocytosis. Bone marrow examination was a bloody tap, and it was not repeated as the child improved with supportive care.
Inflammatory markers showed a CRP level of 220 with an ESR of 70 at the 1st hour. Blood culture was sterile. Liver and renal functions were normal. Serial USS showed deep-seated abscesses with overlying skin oedema in the submandibular region bilaterally.
Management included immediate cessation of dapsone with commencement of broad-spectrum antibiotics. Repeated incision and drainage were required to drain the abscesses. Nebulised adrenaline and IV dexamethasone were used to manage stridor and airway compression. Granulocyte colony-stimulating factor (GCSF) was used initially to manage neutropenia to which she had a poor response. Thus, buffy coat was transfused as per management of any other case of neutropenia [].
Her ANC rose up to 1500, following 5 days of admission, and she made a complete recovery (). |
pmc-6526600-1 | We present a case of a 65 year-old Greek woman who presented to the neurology ward of our hospital with a 1-week history of symmetrical weakness of her lower limbs, numbness and paresthesia of her upper limbs, and dysarthria. Her medical, family, and psychosocial histories were unremarkable. She was not receiving any medication at the time of her presentation, and she had no allergies. She only reported an upper respiratory viral infection 2 weeks ago.
On neurological examination, the patient’s motor strength was 4/5 in her upper extremities and 1/5 in her lower extremities. The tendon reflexes were absent, and there was no cranial nerve involvement. Initially, there were no associated cardiac symptoms, no neuromuscular respiratory weakness (vital capacity [VC] > 20 ml//kg and maximal inspiratory pressure [MIP] > 30 cm H2O), and no hypercapnia (partial pressure of carbon dioxide [PCO2] = 38 mmHg) in arterial blood gas analysis. The patient was afebrile (36.8 °C), had normal ECG findings (sinus rhythm ~ 80 beats/min), and was hemodynamically stable (mean arterial pressure [MAP] = 70 mmHg). Initial cerebral magnetic resonance imaging (MRI) findings were normal. Both neurophysiological and cerebrospinal fluid (CSF) examinations were consistent with the diagnosis of GBS. Thus, CSF examination showed elevated protein level (450 mg/L) with normal cells (2/mm3), and electrodiagnostic testing showed temporal dispersion, significantly slow conduction velocities, prolonged distal and F-wave latencies, and abnormal upper extremity sensory nerve conduction. The patient’s laboratory test results upon admission were normal. Treatment with intravenous immunoglobulin on day 0 over a 5-day period (400 mg/kg/day) was started.
One day after admission to the neurology ward, intubation was necessary because of progressive respiratory failure (VC < 15 ml/kg and MIP < 20 cm H2O, PCO2 = 60 mmHg, pH = 7.24) due to muscle weakness and mucus plugging, and the patient was transferred to the intensive care unit (ICU). Shortly after an uncomplicated intubation (for which she received midazolam 10 mg and propofol 150 mg, without myochalasis), a marked increase in heart rate (sinus rhythm ~ 150 beats/min) was noted, and the patient became hemodynamically unstable (MAP = 50 mmHg), despite fluid loading.
To rule out pulmonary embolism, computed tomography (CT) was performed, which only revealed atelectasis of the left lower lobe and no signs of pulmonary embolism. In the following hours, antibiotics, additional fluids, high-dose norepinephrine (80 μg/min), and hydrocortisone were administered. The patient’s MAP remained low (60 mmHg), tachycardia persisted (sinus rhythm ~ 120 beats/min), and urine output ceased. ECG revealed sinus tachycardia with nonspecific ST-T segment changes. Blood culture results and control for viral infections were negative. Laboratory tests revealed normal white blood cells; normal platelets and hematocrit; normal liver, thyroid, and kidney function; normal creatine kinase (CK = 56 U/L, normal < 145 U/L), but elevated troponin I (598 ng/L, normal < 14 ng/L) and N-terminal pro-brain natriuretic peptide (1391 pmol/L, normal < 15 pmol/L). Urgent TTE was performed, which revealed dilated and severe hypokinetic left ventricle, normal heart valves, normal right ventricle, and lack of pericardial effusion (Fig. a, b). The estimated left ventricular ejection fraction (LVEF) was 20%. A new ECG was performed, which showed inverted T-waves in leads I, avL, and V2–V6 (Fig. ). Urgent coronary angiography to exclude coronary artery disease was performed, which was normal (Fig. c, d), but ventriculography revealed severe diffuse hypokinesis of the left ventricle (Fig. e, f). To exclude myocarditis, the patient underwent cardiac MRI on the tenth day of admission, which showed no signs of ischemia, fibrosis, or edema.
On the basis of echocardiographic findings, it was concluded that the patient had stress cardiomyopathy or fulminant myocarditis. Dobutamine infusion was initiated (15 μg/kg/min) to assist left ventricular contractility, to reduce norepinephrine infusion, and to reduce afterload, despite persistent tachycardia. This resulted in a gradual increase in blood pressure and return of diuresis. The next day, additional furosemide was given because of a positive fluid balance and signs of pulmonary congestion on a chest x-ray. In the next 48 h, dobutamine was tapered because the patient gradually became hemodynamically stable. Due to persistent sinus tachycardia, metoprolol was introduced stepwise over the next 3 days to reduce the sympathetic tone and improve myocardial work/oxygen consumption ratio; the maintenance dose was 50 mg twice daily. After hemodynamic stabilization, a low dose of ramipril (2.5 mg/day) was also introduced. The diagnosis of myocarditis was excluded by cardiac MRI on the tenth day of admission.
Repeat follow-up TTE showed gradual normalization of LVEF in the next few days. Because of difficult weaning, the patient underwent tracheostomy on day 15, and she was discharged from the ICU on day 28 on spontaneous breathing. ECG and LVEF at discharge were normal, but the patient still had heavy peripheral, symmetrical, and especially motor polyneuropathy. New neurophysiological testing was not performed. |
pmc-6526605-1 | Case 1 affected a 16-year-old male patient with significant weight loss in 1 year, headaches and visual impairment developing over 2 months. Magnetic resonance imaging (MRI) demonstrated a left-sided fronto-temporo-insular mass, hypointense on T1 (Fig. a) with inhomogeneous contrast enhancement (Fig. b) and significant mass effect. The tumor showed a solid component with a slightly hyperintense signal and signs of a small surrounding edema on FLAIR (Fig. c) and T2-weighted images (Fig. d). After partial resection the tumor progressed rapidly, despite radiochemotherapy with temozolomide. The patient deceased 21 months after surgery. |
pmc-6526605-2 | Case 2 involved a 14-year-old male patient presenting with headaches for 8 weeks. Computed tomography scans showed a partially hyperdense tumor with calcifications and slight contrast enhancement. MRI revealed a right occipital cortical/−subcortical tumor with a cystic component, measuring 5.3 × 4.6 × 6.8 cm3, extending to the falx, hyperintense on FLAIR-weighted images, slightly hypointense in T1 with small hyperintense spots, compatible with calcifications and blood. The tumor was sharply demarcated from the surrounding brain parenchyma, which presented no significant signs of edema. The patient underwent total resection and radiochemotherapy with temozolomide, and 15 months after surgery was asymptomatic, without radiological evidence of residual or progressive disease.
Histologically, both tumors showed mixed neuronal and glial components (Fig. f, g, j, k), with similar immunophenotypes. The neuronal component consisted of large bi- or multi-nucleated neurons, (Fig. f, j) positive for chromogranin A (Fig. f insert; j, m), also displaying cytoplasmic expression of synaptophysin. The predominant glial component was composed of diffusely infiltrating small cells (Fig. g, k) expressing glial fibrillary acidic protein (Fig. g insert), but not Olig2. Perineuronal satellitosis, perivascular clustering and subpial infiltration were present in case 1 only. Eosinophilic granular bodies were absent. Mitotic activity was high. Vascular proliferation was only present in case 2; palisading necrosis was observed in both cases. The proliferation activity (Ki-67 staining) was high. IDH1-R132H, BRAF-V600E and H3-K27 M proteins were not detectable. ATRX was lost in both neuronal and glial tumor cells. Both cases displayed CD34-positive satellite cells. H3-G34R immunostaining [] was positive in neoplastic neuronal cells (Fig. h, l) and neoplastic glial cells (Fig. i, l), but negative in entrapped neurons. p53 was strongly accumulated in the nuclei of both glial and neuronal tumor cells in case 2 (Fig. n), but was negative in case 1. Pyrosequencing confirmed the presence of a H3F3A G34R mutation in both cases (Fig. e). Classification by DNA methylation profiling was in agreement with H3G34 tumors (not shown). Molecular Inversion Probe analysis revealed among other alterations gains of chromosome 7 and 10q losses in both tumors (Fig. ). Case 1 showed gain of chromosome 1q and loss of 9p including the CDKN2A locus, as well as indication of chromothripsis of chromosome 10. Case 2 displayed amplification of CDK6 and loss of chromosome 3q and 4q (Fig. ). |
pmc-6526667-1 | A 53-year-old woman presented to the emergency department with a 4-week history of rhinorrhoea and post-nasal drip, exacerbated by coughing and bending forward. Onset of rhinorrhoea was noted three days following the initiation of nasal CPAP therapy for severe OSA (apnoea hypopnea index (AHI) of 35/h, more severe during Rapid eye movement sleep, AHI 82/h). CPAP therapy was initiated at a pressure of 11 cm H2O following a CPAP titration study.
The patient's past medical history included poorly controlled type 2 diabetes and hypertension. The patient was also undergoing investigation for constant headaches for several months to years, and benign intracranial hypertension was being considered in the differential diagnosis. She also reported recent onset of dry cough during this presentation, which coincided with the onset of rhinorrhoea. There was no other significant past medical history; in particular, she did not report previous cranial or sinus trauma or cranio-facial surgery. Clinical examination showed that she was febrile at presentation, and other vital signs were unremarkable, including oxygen saturation of 97% on room air. Fundoscopy demonstrated bilateral papilloedema. Respiratory examination showed clear breath sounds, with no crackles or signs of consolidation or pleural effusion. Systemic and neurological examinations were unremarkable; in particular, there were no signs of meningitis.
Lumbar puncture showed an opening CSF pressure of 24 cm H2O. The CSF fluid cell count, glucose and proteins were within normal range. A blood test showed raised inflammatory markers with a C-reactive protein (CRP) of 122 mg/L and raised white cell count of 22 × 109/L with neutrophilic predominance. Liver function test was normal. Connective tissue disease, vasculitis screening, and blood cultures were negative. Derangement of renal function and proteinuria were noted and were considered to be secondary to poorly controlled type 2 diabetes.
Rhinorrhoea was confirmed to be secondary to CSF leak by nasal swab, demonstrating positivity for β2-transferrin. Magnetic resonance imaging (MRI) of the head demonstrated an “empty” sella turcica, enlargement of Meckel's cave bilaterally, and bilateral optic nerve sheath effusions, along with flattening of the posterior optic disc consistent with intracranial hypertension. There was also cortical thinning of the floor of the sella and cribriform plate. Fluid was also demonstrated within the frontal and sphenoid sinuses. A computer tomography venogram demonstrated absent left transverse sinus and sigmoid sinus, and the venous drainage was noted predominantly through right transverse sinus and sigmoid sinus. Dedicated T2 MRI scanning through the anterior cranial fossa, skull base, and paranasal sinuses was performed to identify the site of the CSF leak, which demonstrated multiple fluid tracks noted in the region of the cribriform plate (Fig. A, B). CT scan of the chest showed bilateral, predominantly basal, ground-glass opacities, which were considered to be secondary to CSF aspiration pneumonitis (Fig. ).
The patient reported significant improvement in headache and rhinorrhoea following initiation of azetozolamide. Subsequently, the skull base was repaired via an endoscopic trans-nasal surgery, and a ventriculoperitoneal shunt was placed for CSF diversion. During the follow-up visits, she had no further headaches and was free of CSF leak. Her pulmonary symptoms improved spontaneously, and follow-up chest CT showed complete resolution of the previously noted opacities within one week of resolution of CSF rhinorrhoea. |
pmc-6526761-1 | A male, white-Caucasian patient, 13 years 6 months old, with good general health, sought orthodontic treatment accompanied by his mother, who reported concern about the absence of eruption of tooth #23. She pointed out the lack of room for its eruption, and that she could not see her son’s mandibular teeth. Facial clinical examination revealed a symmetric frontal view aspect, and a passive lip seal. In a sagittal view, the profile was mildly convex, the nasolabial angle was increased, with slight anteroposterior deficiency of the position of the chin ().
During intraoral examination, it was observed an Angle Class II division 2 malocclusion, and a deep overbite. It was also radiographically observed an impacted tooth #23 (). The maxillary and mandibular incisors were retroclined. Model analysis showed a negative dental discrepancy of 7 mm in the maxillary arch, and of 3 mm in the mandibular arch. Additionally, a midline deviation of 3 mm of the maxillary incisors, and a deep curve of Spee caused by the extrusion of the mandibular incisors were also diagnosed.
No mandibular deviations during mouth opening movements, no noises and symptoms of temporomandibular joint disorders were seen during functional analysis. It was verified the absence of the lateral guidance during the mandibular movements due to the impaction of the tooth #23. Analysis of the panoramic radiograph showed the obstruction for eruption of tooth #23, the presence of third molar buds, as well as normal bone trabeculae ().
Pre-treatment cephalometric analysis showed a moderate anterior-posterior discrepancy between the bone bases (ANB = 4° and Wits = 1 mm), with the maxilla slightly retruded in relation to the cranial base (ANS = 78°), the mandible moderately retruded (SNB = 74°), a high angle of facial convexity (7°) and a balanced vertical growth pattern (SN.GoGn = 31° and FMA = 21°) (, ). The Cervical Vertebrae Maturation method showed that the patient was in stage CS3, near the peak of mandibular growth. |
pmc-6527409-1 | A 60-year-old Indian woman was diagnosed with rapidly progressing necrotizing crescentic glomerulonephritis with severe renal insufficiency in March 2015 (). She presented with a serum creatinine of 4.8 mg/dl, hematuria and albuminuria (GFR 9 mL/min/1.73 m2).On immunofluorescence testing, she was weakly positive for Anti Nuclear Antibodies but negative for both pANCA and cANCA. The lactate dehydrogenase, depicting the extent of tissue damage, was very high (404 IU/L; Normal: 103 - 227 IU/L). BVAS was estimated to be 14.
She underwent conventional medical treatment until July. Initially, she received glucocorticoid and cyclophosphamide (immunosuppressive drugs) which did not control the serum creatinine. She then had to undergo plasmapheresis (5 sessions) and dialysis once a week. Despite this, the serum creatinine rose again, and the dialysis was increased to twice a week. However, there was no effective control of serum creatinine.
On 2/07/2015, with dialysis twice a week and immunosuppressive drugs, the serum creatinine was 5.2 mg/dl (normal is up to 1.4 mg/dl), GFR was 8 mL/min/1.73 m2, and hemoglobin was 8.7 g% (with a bone marrow-stimulating injection given periodically). The patient was already developing constitutional symptoms due to the immunosuppressive drugs, with weakness, loss of appetite, weight loss, pigmentation of skin and nails and shortness of breath. The BVAS (worsening) at this point worked out to be 15. |
pmc-6527415-1 | A.T. was a 20-year-old male student at the naval academy. He suffered from a head injury during New Year’s Eve 2014. He was admitted to the emergency room, where he presented with quantitative disturbances of consciousness with Glasgow Coma Scale (GCS) sub-scores of 1/4, 1/5 and 2/6 and a total GCS of 4/15. A head CT scan showed an acute, subdural hematoma in the right frontal area with a diameter of 7 millimeters. Brain edema was present as well. The CT scan showed hemorrhagic foci in the left frontal lobe and the pons ().
A right-sided craniotomy was performed on January 1st. The stay at the clinic was otherwise uneventful. Nine days later, the patient was transferred to the surgical unit for further management. On admission, the patient was alert, without verbal contact, but he comprehended simple, verbal commands and performed voluntary movements with his right upper limb. Otherwise, the patient was triplegic, with bilateral pyramidal tract signs.
A control head CT scan was performed nine days after injury (). It revealed a 5-millimeter residual subdural hematoma, focal brain edema, and multiple hypodense areas in the right frontal, parietal and temporal lobes. The patient was consulted by a neurologist; two weeks after the injury, Cerebrolysin was administered with a daily dosage of 30 ml for 37 days. The patient was then transferred to the local neurorehabilitation unit. On admission, the neurological status was stationary. The patient was alert, and he performed only simple tasks. The right upper limb was fully operational, and the other limbs were plegic with bilateral pyramidal tract signs. According to the physiotherapist’s assessment, the patient was bedridden without the ability to maintain an upright position. He required personal assistance in performing activities of daily living (ADL). The psychological examination revealed a behavioral control deficit. The behavioral symptoms were so significant that the Mini-Mental State Exam (MMSE) could not be applied.
During the stay in the rehabilitation department, the patient’s condition gradually improved. On discharge, three months after the injury, he presented no movement deficit. The left upper limb was slightly spastic, and right pyramidal signs were present. However, he was fully ambulatory and completely independent attending to his activities of daily living.
On psychological assessment, we noticed a significant improvement in cognitive abilities. The patient scored 28 points in the MMSE test which corresponds to his age - average. His behavior had adjusted more to his situation, and there was also a significant improvement in the adequacy of emotional reactions. However, impulsivity and a slight mood deterioration, resulting from the awareness of the limitations associated with the disease persisted. During the following year, the patient was under further outpatient care of the therapeutic team (psychologist, speech therapist, physiotherapist) ().
Further improvement in motor functions has been achieved. However, in order to obtain relative self-sufficiency in instrumental activities of daily living (IADL) the patient required another 12 months of psychological therapy. Currently, the patient is entirely independent with regard to IADL. He was not re-admitted to the Naval Academy but started to work instead. Last year, he was admitted to a drug rehab unit due to marijuana and amphetamine abuse. |
pmc-6527415-2 | J.W. is a 66-year-old male patient, manager of a large company, with a history of hypertension. He suffered from a head injury during a car accident on July 16th, 2017. Six weeks later he was admitted to the neurosurgery unit and diagnosed with bilateral, subacute, subdural hematomas ().
On neurological examination, the patient was conscious, with full verbal contact. He scored 15 points in the GCS but complained of headache scoring 8 out of 10 in the visual analog scale (VAS). Furthermore, he also reported a subjective weakness of the lower limbs.
A bilateral craniotomy was performed. During the four-day stay in the neurosurgery unit, a single epileptic seizure occurred. The patient was transferred to the surgery department, and due to collective epileptic seizures, the patient was consulted by a neurologist and finally transferred to the Neurology Department. On admission, he presented with quantitative disturbances of consciousness, he was drowsy with a psychomotor downturn, oriented to time and place. Dysarthria and central lesions to the left facial nerve were present. The patient was quadriparetic (MRC 3/5 – Medical Research Council Scale of Muscle Strength) with decreased muscle tone in all limbs.
A control head CT scan on September 7, 2017, showed bilateral hematomas in the frontotemporal areas ().
The patient was treated with Valproic acid to control the seizures and, in addition, Cerebrolysin was administered for a total of 29 days, with a daily dosage of 30ml. Furthermore, the patient has received rehabilitation therapy and psychological counseling during the stay in the neurology unit.
According to the psychological assessment, fluctuating qualitative and quantitative disturbances of consciousness, mainly escalating in the evening, were present. During the second week of hospitalization, the patient was auto- and allo - psychically disoriented. Occasionally, he was delusional. At night, constant iv infusions of benzodiazepines were sometimes required. During the day, the patient manifested serious attention disturbances. His speech was slurred. Periodically, he presented disinhibition, variability in affect motivation.
On discharge, he needed to continue psychological therapy. He was able to walk with crutches, and he required some assistance with ADL.
About two months after craniotomy, the patient was re-hospitalized.
A control head CT scan taken November 15th revealed regression of the brain hematomas and cerebral edema (). On neurological examination, he presented left-side pyramidal signs and psychomotor downturn. The patient required some assistance with IADL. No certain epiform waves were recorded in the EEG. He is treated with sodium valproate at 2000 mg daily dose. No epileptic seizures have been observed lately.
The patient, nine months after the injury, continues neuropsychological therapy, remains independent in the ADL and plans on returning to work. |
pmc-6528214-1 | A 16-year-old male patient was admitted to the Department of Infectious Disease, Southwest Hospital for defining the nature of his space-occupying lesions in liver on November, 2016. He was diagnosed as hepatitis B around 1-year-old (his mother had hepatitis B, and did not do any mother to child blocking during pregnancy. So we deduced that his hepatitis B came from vertical transmission). The patient had not received any treatments due to the poor local medical condition, but he had regular visits in several hospitals. On June, 2015, he was found to have hepatomegaly and multiple space-occupying lesions in liver by ultrasonography, and was considered the possibility to suffer hepatocellular carcinoma.
Physical examinations showed this 16-year-old boy was 135 cm in height and 29 kg in weight, below the average values of peers. And his secondary sex characteristic was undeveloped. His liver could be palpable 2 cm below the right rib and 4 cm below the xiphoid, with rigidity and blunt edge. The marked percussion tenderness over liver region was present.
Imaging studies showed some evidence supporting hepatocellular carcinoma, as well as some evidence didn’t support it. Upper abdominal enhancement CT scan showed chronic liver disease performance and nodular low-density shadows in the left and right posterior lobe of the liver. Contrast-enhanced ultrasonography of the abdomen showed the space-occupying lesions with high central density and low density rings around. Significant enhancement of high central density was seen in arterial phase, persisting in portal phase and equilibrium phase. While low density rings enhancement was insignificant.
Laboratory examinations showed decreased blood testosterone (T, 0.12 ng/ml, reference range: 1.75–7.81 ng/ml), blood estradiol (E2, 2.00 pg/ml, reference range: 20–75 pg/ml), insulin-like growth factor-1(97.39 ng/ml, reference range: 224–592 ng/ml) and increased 8:00 cortisol (616.23 ng/ml, reference range: 66–286 ng/ml).
Tracing the clinical history of the patient, we found that he was admitted to hospital (the detail is unreachable) for growth retardation on July, 2015. The Bone age test indicated that the left hand development maturity score was 714, which equals to a 11.6-year-old male’s bone age. And the lab examinations were showed in Table . Then he began to receive intramuscular injection of growth hormone and oral lamivudine treatment. During the treatment, the liver function continued to be abnormal, and the growth hormone injection treatment was not effective.
According to these evidences, he was suspected of suffering from glycogen storage disease type I instead of hepatocellular carcinoma.
To confirming the doubt of GSD I, the patient underwent the Gd-EOB-DTPA tumor specific examination and liver biopsy.
The Gd-EOB-DTPA tumor specific examination suggested glycogen accumulation (Fig. ). As shown in Fig. , the pathological examination results of the patient showed that the liver cells were marked swollen with fatty changes, and a small number of neutrophils infiltrated with fibroblasts. HBsAg staining of several cells was positive (Fig. a), HBcAg staining was negative, and PAS staining suggested a large deposition of glycogen in hepatocytes (Fig. d). The diagnosis was mild chronic hepatitis (G2S1) combined with glycogen accumulation.
There are 12 subtypes of glycogen storage disease, and their genetic variation, treatment, prognosis, diet intervention are different. So it’s necessary to confirm the subtype of glycogen storage disease.
After informing the patient and family, and obtaining the signed informed consent, we collected the peripheral blood of the patient and his father, mother and two sisters (one elder sister cannot be collected for marrying to other province), and extracted DNA from white blood cells. Due to various types of glycogen storage disease involving many genes, and nonspecific symptoms easily confused with other liver metabolic disease, so we first sequenced the entire exome of the patient to find the mutant gene, and then used first generation of sequencing to verify the mutation in the patient and his families. The exome sequencing applied Illumina Hi-seq using Agilent Surelect Kit, and the platform for Sanger sequencing is Applied Biosystems® 3730 DNA Analyzer by using BigDyeTM Terminator v3.1 Cycle Sequencing Kit.
The result of exome sequencing suggests that there was a homozygous mutation c.G648 T (p.L216 L, NM_000151) on exon 5 of G6PC gene (rs80356484), which causes CTG changing to CTT at protein 216 and creates a new splicing site 91 bp downstream of the authentic splice site, though both codons encode leucine []. In order to confirm the sites and homozygosity of the mutations, we designed sequencing primers near mutation sites (the sequences of primers are shown in Table ) and performed PCR for genome amplification of the patient and his families. The result of the first generation of sequencing of the patient is in accordance with exome sequencing, and the mutation c.G648 T was heterozygous identified in his father and mother. (Fig. ). The mutation found on the G6PC gene is a mutation site of the glycogen storage disease type Ia, which has a high frequency in the population of Chinese and Japanese patients with glycogen storage disease type Ia [, ].
According to clinical manifestations, auxiliary examinations, tissue pathology and genetic testing, this patient was diagnosed as a GSD type Ia complicated with hepatic adenoma, and combined with chronic hepatitis B.
The patient was treated by corn starch treatment (Corn starch 50~100 g, 4 times a day) and practiced low fat diet immediately after GSD was suspected. Since then, he was followed up regularly in Department of Infectious Department of Southwest Hospital. The examination data of the patient were shown in Table .
During follow-up, the patient stopped corn starch diet for about three months, and the laboratory measures showed deterioration in July, 2017.
Unexpectedly, we found that the size and the number of hepatic adenomas were increasing during the follow-up. In November, 2017, the patient had an indication for surgery as MRI imaging showed the largest one of hepatic adenomas had reached 3.1 × 3.4 cm, he was therefore admitted to the Department of Hepatobiliary Surgery, Southwest Hospital for radiofrequency ablation and liver biopsy. The postoperative pathological result confirmed as hepatic adenoma. |
pmc-6528227-1 | A 16-year-old, black female patient was referred from the ophthalmology service to our Ear Nose and Throat (ENT) unit at Inkosi Albert Luthuli Central Hospital, Durban South Africa with acute progressive right sided loss of vision for 3 days. It was associated with intermittent ipsilateral moderate-intensity frontal headaches radiating to the ipsilateral temporal area. She had been diagnosed with optic neuritis and commenced on methylprednisolone (250 mg intravenously every 6 h) 2 days previously, with minimal improvement. She noted disturbance in colour vision, and pain on eye movement but no diplopia prior to loss of vision. Computed tomographic (CT) imaging had shown pan sinusitis resulting in her referral to the ENT unit. She had chronic rhinosinusitis for which she was on treatment with a steroid spray and nasal douche. She did not have current or recent nasal obstruction, purulent nasal discharge or facial pressure. There was no associated fever, nausea or vomiting, no history of trauma, or preceding acute illness (particularly no recent upper respiratory tract infection), no other neurological symptoms or any periorbital swelling. She was a student in a metropolitan high school, did not smoke or consume alcohol, and denied any contact with animals or consumption of unpasteurised milk. She reported visiting her rural home approximately 6 weeks prior to presentation but denied consuming any raw milk or contact with horses. Her last normal menstrual cycle was a week prior to presentation.
On examination, she was a well looking patient, who was not acutely ill, fully conscious and had normal vital signs. ENT examination was normal except for an inflamed nasal mucosa. She had poor light perception on the right side (progressively worse since the initial visual acuity of counting fingers at first presentation to ophthalmology) and decreased colour appreciation on Ishihara chart assessment. She had full range of extra ocular motility and anterior segment examination was normal. Posterior segment examination revealed quiet vitreous, no papilledema or optic disc erythema; there were no retinal or macula abnormalities. There was no relative afferent pupillary defect noted. Left eye examination was normal with a visual acuity of 6/12 (20/40). She had no signs of meningism and the rest of cranial nerve examination was normal. The rest of the systems examination was normal.
Full blood count, urea and electrolytes and Erythrocyte sedimentation rate was normal. Rapid Plasma Reagin for syphilis was negative, C-reactive protein was less than 10 mg/L and a rapid HIV test was negative. Coagulation studies were normal and D-dimer was negative. Computed Tomographic (CT) scan (Fig. ) showed bilateral maxillary sinus, right ethmoidal, frontal and sphenoidal opacification. The superior ophthalmic veins were bilaterally enhancing with no filling defects. There was no caroto-cavernous sinus pathological enhancement seen. There were no retro-bulbar lesions noted, no orbital or pre-septal orbital cellulitis. There were no intracranial lesions noted, no ipsilateral bony defects of lamina papyracea, optic canal or lateral sphenoidal wall noted (Fig. ). There were no bony lesions noted in relation to the skull base in the midline.
There was no obvious direct link between loss of vision and the sinusitis, nevertheless a decision was taken to start the patient empirically on intravenous Amoxicillin/ Clavulanate (1.2 g three times a day) and perform emergency functional endoscopic sinus surgery. She was taken to theatre within 24 h of admission to the ENT ward (approximately 5 days since onset of loss of vision) where she had bilateral middle meatus antrostomy with maxillary sinus washout, right total ethmoidectomy, right sphenoidotomy and right frontal sinusotomy. Pus was found in both maxillary sinuses as well as in the anterior and posterior ethmoid sinuses on the right side, the sphenoid sinus had oedematous mucosa. There was oedematous mucosa in the left sphenoid and frontal sinuses with no pus. The right side was packed with Merocel® (Medtronic Xomed Inc) postoperatively.
Nasal pack was removed on day 1 postoperatively and nasal douche as well as steroid spray was commenced. She completed a 3 day methylprednisone course and continued on intravenous Amoxicillin/Clavulanate. She had no periorbital swelling and remained stable. The patient reported an improvement in vision day 1 post operatively.
Intraoperative swabs taken from maxillary sinus revealed Streptococcus equi subsp. zooepidemicus susceptible to Amoxicillin-Clavulanate. This was reported as a moderate growth on culture and was also picked up on microscopy. Specific identification was done by Lancefield grouping as well as the automated Vitek® 2 system. Histology of intra operative sinus tissue reported that the features were in keeping with chronic allergic sinusitis; no fungi demonstrated, no features of an osteitis, no granulomas or viral inclusions and no tumor. She had progressive subjective improvement in vision and had normal eye examination findings with a visual acuity of 6/9 (20/30) in both eyes on discharge, 4 days postoperatively. She was reviewed by a neurologist pre- and post-operatively and diagnosed with ‘neighbourhood syndrome’. Further imaging was deferred given the marked and complete recovery post surgery and antibiotics. She was discharged home on oral Amoxicillin/Clavulanate to be continued for another 10 days and long term nasal douche and Fluticasone nasal spray.
Two week and 4 week follow-ups were unremarkable; vision was still maintained and nasal mucosa inflammation had subsided. |
pmc-6528250-1 | A 71-year-old Caucasian man with non-insulin-dependent diabetes was admitted with a diagnosis of loosened right hip prosthesis. The prosthesis had been implanted 6 years earlier for degenerative joint disease.
He was a social drinker and did not smoke tobacco. He reported high blood pressure and dyslipidemia with high triglycerides and low high-density lipoprotein levels. The medical treatment consisted of: metformin 500 mg/day, ramipril 5 mg/day, and fenofibrate 145 mg/day.
Four months earlier, he experienced a sudden onset of hip pain which became progressively worse. A hip radiograph showed radiolucency at the proximal femoral/stem interface (Fig. ). A tri-phase bone scan evidenced normal distribution of the radionuclide at the early phase, and increased uptake at the delayed phase; the findings were judged non-indicative of infection (Fig. ). On admission, he also reported to have suffered for the past 17 years from a perianal fistula, with recurrent flare ups of infection and multiple short courses of antibiotics. The last episode occurred 1 week before admission for which he was prescribed amoxicillin/clavulanic acid 1 g twice a day. A physical examination evidenced good general condition, normal temperature, blood pressure 130/70 mmHg, pulse rate 70, and O2 saturation 99%. No crepitations were present on auscultation in both lung bases; his abdomen was not distended, not tender, and bowel sounds were present. His liver and spleen were not enlarged. Cardiovascular and neurological systems examinations were normal. A draining perianal fistula was present. Also, pain of his right hip on leg motion and limited motion with lameness of his right leg were evidenced.
Laboratory examinations revealed: white blood cells (WBCs) 8240/mm3 with neutrophils 74%, erythrocyte sedimentation rate (ESR) 15 mm 1°hour, C-reactive protein (CRP) 1.32 mg/dL (normal range 0.1–0.75 mg/dL), alanine aminotransferase 16 IU/L (normal range 17–63), aspartate aminotransferase 18 IU/L (normal range 0–40), urea 23 mg/dL (normal range 12–71), and creatinine 0.36 mg/dL (normal range 0.9–1.3). The day after admission, he underwent prosthesis explant. The Synovasure® Alpha Defensin Test, CD diagnostics (Zimmer GmbH, Switzerland), was performed during surgery and it was indicative of infection [, ]. Purulent material was also evident around the acetabular cavity and the femoral diaphysis, and both prosthesis components were loosened and easily removed. A total of eight different samples, including the synovial fluid, the periprosthetic tissue, and the prosthesis, were sent for microbiological investigation. None was examined histologically. Thereafter, teicoplanin 600 mg twice a day was administered intravenously for the first day, followed by 600 mg a day administered intravenously and imipenem 500 mg four times a day administered intravenously, thus having empiric activity against Gram-positive bacteria as well as Gram-negative and anaerobic bacteria. The samples collected were transported without the use of specific transport media for anaerobic bacteria to the microbiology laboratory; however, cultures for aerobic and anaerobe bacteria and fungi on solid media were performed. When surgery was performed, blood cultures were not obtained, nor were cultures of the rectal swabs and the perianal fistula. A week later, from all samples examined, except the synovial fluid, C. glabrata grew on Sabouraud dextrose agar plates. The isolate was identified using the commercial VITEK® 2 card for yeast identification card (bioMérieux Diagnostic, Chemin de L’Orme, France). Antifungal susceptibility was determined evaluating the minimal inhibitory concentration (MIC), resulting in: fluconazole 4 mg/L, caspofungin ≤ 0.25 mg/L, micafungin ≤ 0.06 mg/L, and amphotericin B ≤ 0.25 mg/L (commercial VITEK® 2 system for susceptibility testing of yeast species, bioMérieux Diagnostic, Chemin de L’Orme, France). Micafungin 100 mg a day administered intravenously was added to the antibiotic regimen.
While on antibiotic and antifungal combination therapy, he underwent surgical treatment of the perianal fistula by positioning a cutting seton. When surgery was performed, rectal swab and perianal fistula cultures were not obtained. One week later, imipenem was replaced with ertapenem 1 g administered intravenously daily, to allow once a day out-patient treatment. Overall, the antimicrobial combination, including teicoplanin 600 mg administered intravenously, ertapenem 1 g administered intravenously, and micafungin 100 mg administered intravenously once a day, was administered for a total of 7 weeks. While on this therapy, he was monitored every 10 days for toxicity and efficacy, and teicoplanin blood levels ranged between 15 and 19 mg/L.
After 8 weeks of an antimicrobial-free interval, prosthesis reimplant was performed. Before reimplant, cardiac, abdominal, and eye fungal localizations were excluded, blood cultures resulted negative, and ESR and CRP were normal. At surgery, bone samples and the spacer were collected for microbiologic investigations, then teicoplanin 600 mg, ertapenem 1 g, and micafungin 100 mg once a day were administered intravenously. Two weeks later, the microbiologic reports failed to identify fungi or bacteria in all the samples cultured, including the spacer examined with and without the sonication technique [], and with traditional as well as commercial real-time multiplex polymerase chain reaction assay LightCycler® testing (Roche Molecular Diagnostics, Mannheim, German) [, ]. Therefore, both antibiotic as well antifungal drugs were discontinued.
At follow-up, 24 months later, he was cured and free of pain. The prosthesis is functioning well, and ESR and CRP are within the normal range. |
pmc-6528262-1 | A 48-year old woman (weight 52 kg, height 152 cm, ASA II) was admitted in Sept 18th 2016 because of a ground glass opacity (GGO) which had been detected in the right lung 2 years ago. She had her left pneumonectomy through uniportal VATS owing to the left upper lobe adenocarcinoma invasive to the left main bronchus in Mar 2014. Her pre-operative diagnoses were GGO in the right upper lobe, suspect for malignancy and left postpneumonectomy (Fig. ). No abnormal findings were detected among other tests, and some of the important figures in the arterial blood gas test were showed as follows: pH 7.44, PaCO2 37 mmHg, PaO2 84 mmHg, SaO2 97.7%. Her pulmonary function test showed FEV1 46.9%, FEV1/FVC 83.3%, and her predicted postoperative FEV1% would be close to 44.7%. Although other tests of evaluating cardiopulmonary reserve function and lung parenchymal function were not performed, her regular 3-floor climbing activity was not compromised. The operation was scheduled as right anterior segmentectomy through uniportal VATS under general anesthesia. Routine monitoring was applied and the first data were recorded as follows: body temperature 36.7 °C, blood pressure 123/70 mmHg, heart rate 86/min and Sp02 98% when the patient was placed in a supine position in the operation room. After the insertion of an 18-gauge intravenous cannula and the right internal jugular vein catheter, intravenous induction was carried out with an injection of midazolam 0.03 mg/kg, sufentanil 0.6 μg/kg, propofol 1 mg/kg, and rocuronium 0.8 mg/kg. Intubation preparation: the patient was scheduled to have the right anterior segmentectomy through VATS after the left pneumonectomy, which entailed us to make a good balance between ventilation and collapse on the right lung only, to make good use of ventilation in the lower and middle lobes, and to produce an effective collapse in the upper lobar. After a prudent study of the following parameters, the diameter of the narrowest part of the tracheal is 11.9 mm, the length of right upper lobe bronchus is 6.2 mm, the angle of the right main bronchus and right upper lobe bronchus is close to 90 degree, the diameter of the bronchus intermedius is 8.8 mm, and the length of bronchus intermedius is about 15 mm, a 32 Fr left-sided DLT was chosen and adapted (Fig. ). Permission was granted by our hospital ethical committee to adapt the DLTs. The cutting edge of the tube should be smooth and clean, only in this way can we make sure that it won’t do any harm to the airways. One cut (cut just for once) would be best in adapting. Whether the cutting edge is qualified or not can be detected by our sensitive finger tips. And this technique has been proved safe from our experience in tracheal and bronchial operations. The 32Fr left-sided DLTs have been used among short women for left thoracic operations in our facility, and its external diameter is about 10.7 mm, the bronchial internal diameter is about 3.5 mm. But it’s our first time to insert the left-sided DLT to the right for the right lung surgery. As we can see from Fig. , the mediastinum has shifted to the left, the intubation should be gentle and carried out by an experienced anesthesiologist in case of any possible injury or even perforation to the former carina. After induction, we performed a FOB (3.0 mm diameter) guided endobronchial intubation with the bronchial cuff into the right bronchus intermedius, and the tracheal cuff’s orifice up against the upper bronchial port (Fig. ), in this way, the ventilation of the dependent right middle and lower lobes and the collapse of the upper lobar were guaranteed (Fig. ), thus an appropriate balance between surgical field and oxygenation was achieved, and the blood and sputum from the upper lobe bronchial port can be sucked out. An automatic infusion of propofol and sufentanil combined with manual administration of rocuronium maintained the anesthesia for the operation. And a lung protective mechanical ventilation strategy was taken, positive end-expiratory pressure (PEEP) 5 cmH2O, tidal volume (Vt) 4–6 ml/kg, frequency 15–18/min. In the meantime, end tidal CO2 and arterial blood gas analysis were recorded to adjust ventilation. The lung recruitment, air leak test and sputum suction went well throughout the operation and the surgery was completed as planned. The patient recovered well after the surgery, so she was extubated in the operation room and sent to the postanesthesia care unit (PACU) for transition, where a routine oxygen supplementation was applied. Oxygenation, ventilation, and circulation were all strictly monitored and no adverse events were recorded in the PACU. She recovered better on the next day follow-up and was discharged from the hospital 6 days later. The pathological diagnosis was invasive adenocarcinoma. |
pmc-6528267-1 | A 60-year-old woman presented with decreased visual acuity in the right eye. She was on regular follow-up at our clinic due to non-proliferative diabetic retinopathy and hypertension. She had undergone microincision phacoemulsification and an in-the-bag implantation of an Akreos MI60 IOL at our clinic 11 months ago.
At 1 month after the cataract surgery, her UCVA and BCVA was 20/20 with a SE of − 0.125 D. At the time of presentation, her UCVA was 20/32 and BCVA was 20/25, in the right eye. In the refraction test, the SE showed a hyperopic shift of + 1.375 D. Her intraocular pressure (IOP) was within the normal limit. A slit lamp examination after pupil dilation revealed anterior capsule contraction syndrome with a markedly thickened anterior capsule (Fig. ). The IOL remained stable centrally in the capsular bag; however, it showed a slight posterior vaulting (Fig. ). The fundus examination showed no definite change in the retina. The Nd:YAG laser anterior capsulotomy was performed by creating symmetrical incisions along four axes that radiated from the pupil center under local anesthesia in the right eye (laser energy = 1.5 mJ). The capsulotomy was created from the continuous curvilinear capsulorhexis margin to the IOL optical margin. Radial tearing should be considered when performing the initial incision. The incision was performed up to 0.5–1.0 mm from the IOL optical margin. Incisions over IOL haptics should be avoided because asymmetrical lens tilting can occur. One month after the Nd:YAG treatment, her UCVA and BCVA improved to 20/20, and the SE reduced to + 0.25 D. Six months later, her BCVA was 20/20 in the right eye, without any CCS. |
pmc-6528267-2 | A 65-year-old man complained of a progressive decrease in vision in his right eye. The patient had undergone phacoemulsification and hydrophilic acrylic IOL (Akreos MI60) implantation in his right eye 18 months ago. At 1 month after the cataract surgery, his UCVA was 20/63 and his BCVA was 20/20 with an SE of − 2.00 D. At the time of presentation, his UCVA and BCVA were 20/250 and 20/100, respectively, and his SE was + 0.375 D. The IOP and anterior ocular surface did not show any abnormality. Slit lamp examination after dilation revealed marked shrinking of the anterior capsular opening. An Nd:YAG laser anterior capsulotomy was performed. One month after the Nd:YAG laser treatment, his UCVA and BCVA improved to 20/100 and 20/20, respectively, and his SE value returned to – 1.375, which was similar to the value after the cataract surgery. Twelve months later, his BCVA was 20/20 in the right eye, without recurrence. |
pmc-6528267-3 | A 66-year-old woman with no systemic disease visited our clinic due to decreased visual acuity in her right eye. She underwent phacoemulsification surgery with IOL (Akreos MI60) implantation 2 months ago. Her postoperative UCVA and BCVA were 20/100 and 20/25, respectively, and her SE was − 2.00 D. At the time of presentation, her UCVA and BCVA were 20/100 and 20/50 respectively. On a refraction test, her SE was − 0.125 D, which showed a hyperoptic shift compared to the value immediately after her cataract surgery. Dilated slit lamp examination revealed phimosis of the anterior capsule with posterior vaulting of the IOL optic. Laser anterior capsulotomy was performed with an Nd:YAG laser in the right eye. One month after the Nd:YAG treatment, her UCVA and BCVA improved to 20/63 and 20/32, respectively. On a refraction test, the SE was − 1.50 D. Eight months later, her UCVA and BCVA were 20/63 and 20/32, respectively, in the right eye, without any complications. |
pmc-6528267-4 | A 76-year-old woman who had phacoemulsification cataract extraction 6 months ago was referred to our clinic due to decreased visual acuity in the right eye. She had controlled hypertension and diabetes. At the time of the cataract surgery, a Akreos MI-60 IOL was implanted in the capsular bag. Postoperative UCVA and BCVA were 20/32 and 20/20, respectively. The postoperative refraction test showed that her SE was + 0.50 D. At the time of presentation, UCVA and BCVA were 20/50 and 20/25, respectively, and the SE showed a hyperoptic shift of + 1.875 D. Dilated slit lamp examination revealed 360 degrees of anterior capsular phimosis. Nd:YAG laser anterior capsulotomy was used to create a radial opening in the capsular phimosis. One month after the Nd:YAG treatment, her UCVA and BCVA improved to 20/25 and 20/20. The refraction test showed an SE of + 0.75 D. Twelve months later, her UCVA and BCVA were 20/20 in the right eye. There was no sign of anterior capsular contraction in the right eye. |
pmc-6528295-1 | A 59-year-old female patient (height, 146 cm; weight, 49 kg; body mass index [BMI], 23.2) had undergone left mastectomy for breast cancer (T1N0M0 stage 1) and immediate reconstruction surgery with an LD flap (Fig. ). The patient visited our outpatient clinic 2 years after mastectomy, due to an acutely developed palpable mass at the back donor site. Physical examination results indicated the development of a solid mass at the location corresponding with the previous LD flap donor site (Fig. ). The patient did not experience any precipitating event or blunt trauma and was not using medications with bleeding tendency (i.e., anticoagulant).
We initially tried to aspirate the palpable mass, but it could not be aspirated. Chest CT was performed to further assess the lesion, and a 3-cm, low-density lesion of late solidified hematoma in the form of cystic mass surrounded by capsular structure at the posterior aspect below the left scapula was confirmed.
As the lesion could not be removed via aspiration, surgical excision under general anesthesia was planned. During surgical excision, we observed a capsule-enveloped hematoma, and inside, a solidified hematoma with semisolid blood clots was identified. A definitive diagnosis was made based on the results of pathological examination. Biopsy revealed that the capsule consisted of fibrous tissue, and the content of the cyst comprised some blood and fibrinoid material. On day 6 after the surgery, the negative pressure drain was removed and the patient was discharged. During outpatient follow-up visits, seroma aspiration of the excised site was performed 4 times in total. The patient was followed up, and there was no recurrence or need for aspiration for 8 months. |
pmc-6528295-2 | A 41-year-old female patient (height, 168 cm; weight, 72 kg; BMI, 25.5) had undergone right mastectomy for breast cancer (T2N2M0 stage 3) and immediate reconstruction surgery with an LD flap. After 4 years, the patient exhibited an acutely developed palpable mass at the back donor site and was examined at the surgery department in our center. Physical examination showed the development of a solid lesion that could not be aspirated. The patient did not have any specific triggering event or blunt trauma or any underlying diseases aside from uterine myoma and ovarian cyst. The patient was not under any medication. Chest CT confirmed the presence of an enlarged cystic mass (size 9 × 4 cm) in the right posterior chest wall, and surgical excision under general anesthesia was planned. During surgical excision, a capsule-enveloped hematoma was identified. A definitive diagnosis was made based on the results of pathological examination. Biopsy revealed no evidence of malignancy or benign cyst with fibrosis (Fig. ). There was no recurrence or complication for 3 years. |
pmc-6528295-3 | A 50-year-old female patient (height, 148 cm; weight, 53 kg, BMI, 24) underwent left partial mastectomy due to breast cancer (T1N0M0 stage 1) and immediate breast reconstruction surgery using an LD flap. The patient completed adjuvant radiotherapy and showed complete healing. However, 18 months after the breast reconstruction surgery, the patient visited our center with discomfort at the LD flap donor site. We observed a palpable mass resembling a solidified hematoma that could not be aspirated, and CT result confirmed the presence of a capsulated hematoma. Surgical excision under general anesthesia was planned, and both late solidified hematoma and capsule were removed using. Histologic examinations showed that the lesion was composed of dense fibrotic tissue, with accompanying focal chronic inflammation (Fig. ). |
pmc-6528307-1 | A 67-year-old man was admitted to our hospital with intermittent headache for 10 days and hypomnesis for a week. The patient had no B symptoms but was generally in poor condition (Eastern Cooperative Oncology Group (ECOG) performance status =2). Neuroimaging revealed a homogeneously enhancing mass with peripheral signal hyperintensity on the right temporal. Serum lactate dehydrogenase (LDH) level (630 U/L, reference range: 135–215 U/L) and cerebrospinal fluid (CSF) protein concentration (954 mg/L, reference range: 150–450 mg/L) were elevated in the patient. Involvement of deep structures of the brain was not found. The International Extranodal Lymphoma Study Group (IELSG) score [] was 4 and belonged to the high-risk group. This patient received high-dose methotrexate (HD-MTX) (3.5 g/m2) and the concomitant chemotherapy drug idarubicin after surgery. The patient achieved a partial remission according to the response criteria [] after therapy but died 5 months after the onset of disease. |
pmc-6528307-2 | A 54-year-old man was admitted to our hospital with a history of right limb weakness for 1 year. The patient had no B symptoms, and the general condition was good (ECOG performance status =0). Neuroimaging showed a noncalcified homogeneously enhancing mass with peripheral signal hyperintensity around the ventricles with associated edema and multiple damaged parts. Serum LDH level (375 U/L) and CSF protein concentration (625 mg/L) were elevated. Involvement of deep structures of the brain was found, and the IELSG score was 4 and belonged to the high-risk group. This patient received HD-MTX (3.5 g/m2) and the concomitant chemotherapy drug cytarabine after surgery followed by consolidative whole-brain radiotherapy (40 Gy). He achieved a PR after therapy but died 8 months after diagnosis. |
pmc-6528307-3 | A 55-year-old woman was admitted to our hospital with history of dizzy and headache for 1 year. The patient had no B symptoms and her general condition was poor (ECOG performance status =3). Neuroimaging revealed a homogeneously enhancing mass with peripheral signal hyperintensity on the interventricular septum and the corpus callosum with associated obstructive hydrocephalus. Serum LDH level (780 U/L) and CSF protein concentration (863 mg/L) were elevated. Involvement of deep structures of the brain was found, and the IELSG score was 4 and belonged to the high-risk group. This patient received HD-MTX (3.5 g/m2) and the concomitant chemotherapy drug idarubicin after surgery. She had progressive disease after therapy and died within 2 months of diagnosis. |
pmc-6528332-1 | One year ago, a 35-year-old woman underwent computed tomography (CT) scanning following two incidences of paroxysmal hypertension. The scan revealed a tumor above the right kidney. CT images showed a circular soft tissue density shadow in the right adrenal gland, and the lesion in the arterial phase was markedly heterogeneous with a clear boundary after enhancement (Fig. ). A needle biopsy was performed and the pathological diagnosis was pheochromocytoma (the report was not available). The patient did not receive treatment at that time. The tumor grew slightly over the subsequent year. Then, the patient came to our hospital for treatment. Ultrasound examination again suggested pheochromocytoma (Fig. ) and the patient underwent a tumor resection.
Analysis of the surgical specimen revealed a limited tumor measuring 3.0 × 2.5 × 2.3 cm3. The cut surface of the tumor had a half pinkish-grey and half whitish color. The pinkish-grey part was softer than the whitish part.
Histologically, the tumor exhibited a nest-like and trabecular growth pattern. The tumor cells were large, the cytoplasm was eosinophilic, and the nuclei were atypical. Necrosis and mitoses were obviously seen. We initially diagnosed the tumor as a pheochromocytoma. A routine immunohistochemical (IHC) assay was carried out. The results showed that part of the tumor was strongly positive for neuroendocrine markers including chromogranin A (CgA), synaptophysin (SYN) and positive for CD56, but totally negative for cytokeratin (CK). S100 was positive in the sustentacular cells, which supported the diagnosis of pheochromocytoma. Conversely, the other part of the tumor was strongly positive for CK, but negative for CgA, SYN and CD56, as well as S100. In addition, there is a significant difference in the proliferative index (Ki67) between the two parts. (Figs. and ).
Because of the particular expression pattern seen by IHC in this case, we reviewed the histological sections and found that the tumor consisted of two components. One component exhibited alveolar, trabecular, and diffuse growth patterns. The cells had a polygonal shape and were large with variably sized nuclei, and occasional bizarre giant nuclei. The other part of the tumor showed a nest and sheet growth pattern, and focal necrosis. Cytoplasm of the tumor cells was abundant and eosinophilic, and the nuclei were uniform and regular with prominent nucleoli (Fig. ). Corresponding to the histology, the cut surface of the tumor exhibited two distinct and well-defined appearances.
Retrospectively, the patient was diagnosed with breast invasive ductal carcinoma 1.5 years ago (without mention of left or right). In addition, left retroperitoneal and thoracic vertebral metastases were confirmed. Hence, we suspected that there may be two components in this tumor: pheochromocytoma and metastatic breast cancer.
In order to verify the composition of metastatic breast cancer, we have added some known breast markers which include estrogen receptors (ER), progesterone receptors (PR), human epidermal growth factor receptor-2 (HER-2), GATA-binding protein 3 (GATA-3), Mammaglobin A, gross cystic disease fluid protein 15 (GCDFP15) and E-cadherin. The supplementary IHC assay revealed that both tumor cell types were positive for GATA-3 but negative for estrogen and progesterone receptors (ER and PR), despite the slight difference in the intensity of expression of GATA-3 in two tumors. HER-2 was strongly positive (3+), Mammaglobin A and GCDFP15 were weakly positive and E-cadherin was membrane positive in the area where cells were arranged in the nest and sheet pattern with focal necrosis, but completely negative in other areas. Representative images were displayed in Figs. and . |
pmc-6528350-1 | A 37-year old man with chronic renal failure who was secondary to chronic glomerulonephritis had been on PD for approximately 6 months without any episode of peritonitis. In July 2015, he was admitted to the hospital because of fever, vomiting, abdominal pain, diarrhea and cloudy dialysate several hours after eating stinky tofu. Physical examination showed: blood pressure was 175/97 mmHg, pulse was 90 beats per minute and body temperature was 39.1 °C, periumbilical tenderness, defense and rebound. No erythema and exudates were found around PD catheter exit site. Laboratory examinations revealed an increased white blood cell (WBC) count (14.22 × 109 cells/L with 89.8% neutrophils). Hemoglobin was 110 g/L, albumin was 36.1 g/L, serum potassium was 2.86 mmol/L, and C-reactive protein was 67.5 mg/L. Dialysate leukocyte count was 12,800 × 106 /L with 30% polymorphonuclear cells, indicating PD-related peritonitis. The first peritoneal effluent culture was obtained before initiation of antibiotics therapy (intraperitoneal teicoplanin 200 mg every other day and intravenous cefotiam 1000 mg twice daily for 8 days). After treatment, the patient’s fever and diarrhea were relieved. However, he still suffered from abdominal pain and the peritoneal effluent was still turbid. Analysis of dialysate for the second time showed that leukocyte count was 3200 × 106 /L with 90% polymorphonuclear cells. Aeromona sobria was isolated from peritoneal effluent on the fifth day after the treatment, and drug sensitivity test showed that it is sensitive to amikacin, ceftazidime, cefepime, levofloxacin and meropenem, and resisted to ampicillin, cefotaxime, and piperacillin /tazobactam. Therefore, amikacin and levofloxacin (intraperitoneal amikacin 200 mg and intravenous levofloxacin 300 mg per day for 10 days) were prescript. The abdominal pain was relieved and peritoneal effluent turned to be clear gradually. Unfortunately, the peritoneal dialysis catheter was blocked because of fibrin clot formation in the setting of inflammation. Although urokinase was used to salvage the catheter, it was removed finally. The patient switched to hemodialysis and was discharged from hospital after recovery. |
pmc-6528384-1 | A 20-year-old Brazilian man was referred for medical investigation after the incidental finding of increased serum creatinine level (Cr: 1.67 mg/dL). Clinical examination was unremarkable, and although abdominal ultrasound (US) disclosed bilateral NC and nephrolithiasis, the patient was asymptomatic. As shown in , the main initial laboratorial findings included: high serum parathormone levels (PTH: 227 pg/mL), normal serum calcium and phosphorus levels, and hypercalciuria (CaU: 315 mg/24h). Cervical US depicted an increased size of right inferior parathyroid gland (1.2 cm); however, parathyroid scintigraphy did not show alterations. Despite the normal serum Ca2+ levels, it was inferred by the endocrinology service as a primary hyperparathyroidism (PHPT), and the patient underwent partial parathyroidectomy. After the procedure, he maintained high serum PTH levels (374 pg/mL) and progressive renal impairment.
He was referred to the University Hospital Nephrology Service, where additional investigation revealed (): hypomagnesemia (Mg2+: 1.3 mg/dL), hypermagnesuria (Mg2+ excretion fraction – FEMg2+ of 15.9%), hypercalciuria, hypocitraturia, hyperuricemia with hypouricosuria, and proteinuria. The Cr was already 2.25 mg/dL, with a glomerular filtration rate (GFR) of 40 mL/min/1.73m2 according to CKD-EPI equation. Uroculture was persistently positive with Escherichia coli, but the patient reported no urinary symptoms. Besides, the patient underwent ophthalmologic evaluation that evidenced myopia and strabism. Such abnormalities, added to the history of consanguineous parents (first-degree cousins) of German descent, suggested the diagnostic hypothesis of FHHNC. Genetic evaluation for mutations on claudin-16 and -19 genes (CLDN16 and CLDN19, respectively) was performed, and an unpublished mutation on CLDN16 was identified: c.592G>C (p.Gly198Arg). Interestingly, in laboratory tests of the patient’s family, hypercalciuria was observed in his mother, father, and brother. Hypermagnesuria, hypomagnesemia, and NC/nephrolithiasis were absent in all of them.
Supportive treatment was implemented with oral magnesium and citrate supplementation (magnesium 100 mEq/day and citrate 100 mEq/day), chlorthalidone 25 mg/day, allopurinol 300 mg/day, and calcitriol 1.25 µg 3 times/week. Renin-angiotensin-aldosterone system (RAAS) inhibitors were not used because of upper-limit potassium levels. There was partial improvement of the serum magnesium level (Mg2+: 1.6 mg/dL), reduction of serum PTH (154 pg/mL) and urinary calcium (145 mg/24h). Nevertheless, the patient is presenting progressive decline of renal function, with GFR of 21 mL/min/1.73m2 5 years after the first medical evaluation. During follow-up, nocturia/polyuria was reported and serum sodium levels tended to rise, suggesting a picture of nephrogenic diabetes insipidus. Nephrocalcinosis is illustrated in , and evolution of laboratory parameters is shown in . |
pmc-6528436-1 | This 64-year-old man with PD had a disease duration of 20 years and a Hoehn and Yahr Stage of III, indicating a mild-to-moderate bilateral disease and some postural instability but being physically independent (the range according to the Hoehn and Yahr stages is from 0 [no symptoms] to V [severely disabled and wheelchair bound]) []. In the course of his disease, he started experiencing postural instability, decreased memory performance, and depressive symptoms. His passion was virtual car racing, and he customized a computer videogame racing simulator (called iRacing, by iRacing.com Motorsport Simulations) with a trajectory on the Nürburgring Nordschleife circuit (Germany; see and ). At the time, he was treated with a levodopa equivalent daily dose of 1285 mg, including a daily dose of 3 mg Ropinirole dopamine agonist. He started racing on a daily basis in his simulator and challenged himself to improve on every race lap. He assessed his performance by remembering the influence of variances in turns on lap times. A race simulator challenges various cognitive functions (attention, decision making, and memory) as well as motor functions (reaction times and perceptuomotor skills). In the following months, he experienced improved driving skills in real life and better attentional performance while driving a real car, outside of the simulator. The patient’s spouse believed her partner had an extended attentional span after playing the game regularly. His compliance was excellent, as the pursuit of the perfect race lap on the circuit was an intrinsic motivation for creating a gamified cognitive training task. He feels that pushing the boundaries prevents a rapid cognitive decline, and he has now faithfully used his simulator for over 5 years. |
Subsets and Splits
Exclude ER emergencies
Retrieves 100 descriptions that do not contain the terms 'ER' or 'emergency', providing a basic filter of the dataset.