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NH and JZ performed the cytogenetic studies and FISH analysis in the present case. XZ and YJ collected the data relative to this case report. LZ did the aCGH and STS analysis and interpretation. All authors contributed to the finalizing of the manuscript. All authors read and approved the final manuscript.

51-year-old woman with HCC in BCS. (a) Contrast-enhanced transverse CT scan showing a large mild heterogeneous enhanced nodule(⇦) in the left liver during arterial phase and obvious cirsoid azygous vein and semi-azygous vein (⇩) and liver congestive cirrhosis. (b) Washout of the nodule on portal venous phase (⇦). (c) Angiography showing heterogeneous and contorted tumorous veins in the left liver (⇦) during arterial phase. TACE was given at the first time. (d) Contrast-enhanced transverse CT scan showing that the nodule was obtained stable effect after 2 TACE treatments for 14 months. Lipiodol was located equably in the nodule.

Upon further psychiatric evaluation S is found to have 'histrionic personality traits and immature maladaptive defence mechanisms' for coping with family rules based on strict societal norms and expectations. After a week of observation as an inpatient no further episodes of abnormal behaviour are seen. Subsequently S receives regular psychotherapy as an outpatient and makes a steady improvement.

The incubation period of P. marneffei infection has not been well defined. A report of a patient who lived in an nonendemic area but developed penicilliosis 11 years after visiting Hong Kong has suggested the possibility of a long latency with subsequent reactivation . There is also evidence that primary infection might occur as P. marneffei infection can present early in young children who had acquired HIV perinatally .

Lymph node metastasis is present in 28% of dysgerminomas and is significantly associated with poor survival . In order to evaluate the prognosis and find adequate therapy options lymphadenectomy is indicated. The result of the lymphadenectomy in our case was positive and showed tumour cells within the lymph node which is according to Kumar et al. a predictor for poor survival .

To our knowledge this study is the first to use piezosurgery for endoscopic transnasal craniotomies and proves its feasibility in five cadaveric specimens. We created bone flaps with straight margins which stayed intact and could later be repositioned (Figure 2). The advantage is a reconstruction of the skull base comparable to standard transcranial craniotomies.

The patient had suffered a complicated type B dissection 18 months earlier and had undergone a femoral-femoral bypass for left leg ischaemia and temporary haemodialysis for renal failure due to right kidney hypoperfusion. He had also undergone a total laryngectomy with permanent tracheostomy for laryngeal cancer one year previously.

Pre-operative images of the aorta. (a.) 3D CT reconstruction demonstrating the dissecting type B aneurysm and the dilatation of the arch and ascending aorta (b.) 3D CT reconstruction image of the dissected abdominal aorta and the patent femoro-femoral bypass graft (c.) Axial CT image showing the origin of the celiac trunk from the true lumen (d.) Axial CT image demonstrating the origin of the left renal artery from the false lumen and right renal artery from the true lumen.

A CABG × 2 was first performed with saphenous vein grafts to the RCA and LAD. An additional dose of 400 ml cardioplegia was administered through the graft of the RCA to augment myocardial protection of the right ventricle. Aortic valve replacement followed using a mechanical 22 mm Overline Sorin supra-annular aortic prosthesis.

Once the target bladder temperature of 25°C was reached the CPB flow was reduced to one liter per min and the common trunk (CT) of the innominate and left common carotid artery was clamped in order to obtain selective bilateral antegrade cerebral perfusion. The common trunk and LSA were transected 1 cm distal from their origin. The proximal stump of LSA in the arch was ligated.

The patient stayed in the intensive care unit for 6 days. He was extubated 18 h after the operation and remained haemodynamically stable and neurologically intact. However he experienced deterioration of his renal function and required temporary haemodialysis for three weeks. A CTA scan was performed at 3 months after surgery and revealed complete thrombosis of the aneurysmal false lumen and expansion of the true lumen of the descending thoracic aorta (Figure 2a). The visceral arteries were perfused from the true lumen (Figure 2b and 2c) while flow in the pre-existing femoral-femoral bypass was reversed (left to right).

Histologic specimen of carcinoma ex pleomorphic adenoma of the parotid. Image shows the poorly differentiated malignant epithelial component in pleomorphic adenoma (A). Immunohistochemical staining demonstrated strong and diffuse positivity for a cocktail of cytokeratins (B).

Radiographs of patient 1 obtained between 1952 and 1969. (A) Severe coxa vara (12 years) and (B) lower leg deformity (14 years). (C) Delayed closure of epiphyses and calcification of the forearm interosseus membrane (18 years). (D) Paraspinal calcifications without deformities of the vertebral column (29 years).

The Pten117 allele has a deletion of 5 base pairs in the coding region of the gene that results in a frame-shift and insertion of a premature stop codon. DNA from Pten cultures was amplified using the primers shown below. The amplified DNA was purified and sequenced to confirm presence of the mutation.

A 53-year-old male was admitted in July 2012 to our unit for a sepsis with isolation of a fluconazole-susceptible Candida albicans from blood cultures. He had a history of aortic valve replacement with mechanical prosthesis in May 2010. He underwent abdominal surgery for intestinal volvulus in April 2012 complicated with secondary peritonitis and candidemia by a fluconazole-susceptible C. albicans treated with a 3-week course of fluconazole.

A 71-year-old was admitted on September 2012 to a medical ward for persistence of fever despite an empirical antibiotic course. His medical history revealed a composite replacement of the aortic root and valve with Bentall procedure for an ascending aortic aneurysm with aortic insufficiency in October 2010.

A 46-year-old man was admitted on November 2011 to our hospital for remittent fever. He had a medical history of severe aortic stenosis underwent mechanical prosthesis replacement fifteen years before and re-operated in 2010 for valve dysfunction with a Bentall procedure. A month before admission he had been successfully treated as outpatient with a short antibiotic course with levofloxacin for a community-acquired pneumonia.

Surgical treatment was deemed unfeasible for the high patient EUROscore (European System for Cardiac Risk Evaluation). Antimicrobial treatment with meropenem and ciprofloxacin was maintained for 4 weeks and then switched to suppressive life-long therapy with ciprofloxacin. The patient remained symptom-free and a CT/FDG-PET performed one year later showed a 50% reduction of focal uptake.

The 75-year-old right-handed gentleman (WH) was diagnosed with Parkinson's syndrome five years ago. Within the last six months he reported a rapid loss of control of his left hand. It became much more stiffed and lost fine motor skills. When he walked down a stair he was not able to release the railway voluntary. Playing table tennis became awful. He was not able to serve because the left hand did not loose the grip of the ball. Dopaminergic medication was not as efficient as it used to be at the beginning of disease.

Genetic analysis of 25 affected individuals from 16 families with FHHt who had already been screened and found negative for WNK1/4 mutations was performed. A total of 95% of the targeted bases were sequenced adequately for variant calling. The sequencing depth and coverage achieved by gene and exon are shown in Supplementary Figure S2 (at http://www.clinsci.org/cs/126/cs1260721add.htm).

This plot summarizes all significant genomic events that were identified in patient 1 using WGS. Copy number changes are shown in the inner circle plot with red marking amplifications and green marking deletions. SNVs are indicated with dark blue tick marks and indels are indicated with light blue tick marks.

This plot summarizes all significant genomic events that were identified in patient 2 using WGS. Copy number changes are shown in the inner circle plot with red marking amplifications and green marking deletions. SNVs are indicated with dark blue tick marks and indels are indicated with light blue tick marks.

This plot summarizes all significant genomic events that were identified in patient 3 using WGS. Copy number changes are shown in the inner circle plot with red marking amplifications and green marking deletions. SNVs are indicated with dark blue tick marks and indels are indicated with light blue tick marks.

The patient met the diagnostic criteria for HMS and short term malarial therapy was introduced (association of atovaquone/proguanil) during three days which led to a rapid recovery. The patient has been followed up for two years and a rapid decrease in the concentration of serum IgM returning to normal values within months was observed while the titers of autoantibodies on ANA testings remained at high levels with similar fluorescence patterns.

Control sonography was done to assess the liver condition in one year time. All patients were followed at regular sessions recording weight changes and investigated for any complications. Functional gastric volume and its changes were recorded periodically. Functional gastric volume was defined as maximum amount of intake above which it induces sharp pain or vomiting which was initial preventive mechanism from excessive oral intake.

16 patients out of 615 had problems after 6 months which only one of them required reoperation to undo the plication due to long term vomiting secondary to adhesion of liver to the His angle. Others including 2 patients with gastritis and 13 with persistent reflux were controlled by medical therapy (Table 4).

Temporary postop reflux without any preop history was probably due to high intraluminal pressure and mucosal edema caused by plication. This was observed especially in cases with incompetent lower esophageal sphincter which is seen commonly in morbid obesity. The rate of reflux dropped down due to subsidence of edema after one week.

'One woman started dialysis and as the year passed she suffered more and more from dementia. She and her husband had been living together for a long time and were quite isolated so the husband had to take on a great responsibility. Most of their life revolved around her and her care....we started a discussion about her life.... and I asked if there was really any motivation for keeping her alive on dialysis. In some way it felt as if we were giving her dialysis for his [the husband's] sake rather than for her own.... the nurses started to get frustrated because she was lying there without really understanding and sometimes they had to hold her arm straight to give her the treatment...He didn't want to withdraw treatment because he still felt she had a kind of quality of life when not on dialysis'

The right pulmonary artery revealed contour abnormality and kinking on follow-up CT angiography study which were not seen on baseline study. We presume that hemodynamic changes in the pulmonary circulation following the occlusion of anomalous systemic arteries could have led to flow alteration in the right pulmonary artery causing the morphological changes as described previously. Few reports on reduction in pulmonary arterial pressure following surgery for intralobar sequestration and sequestration spectrum (anomalous systemic arterial supply to normal basal lung segment) have been mentioned in the literature [13–15]. However hemodynamic alteration in pulmonary artery following transarterial embolization needs to be confirmed by further studies.

Clinical examination of the left knee revealed a small effusion and tenderness at the inferior pole of the patella. He was able to actively straight leg raise but with significant discomfort. Passive flexion of the knee was painful. Initial plain film radiography (Figure 5) demonstrated a fracture of the inferior pole of the patella with minimal displacement.

Patient with a history of vulvar carcinoma who has undergone superficial lymphadenectomy and resulting lower extremity lymphedema. Incision design for elevation of vascularized lymph node flap based on thoracodorsal vessels and incision design for abdominal incision for inset of flap (black arrows). Green arrows indicate sites of injection of indocyanine green to identify lymph nodes draining the chest for inclusion in the flap. Red arrow indicates the site for inset of the vascularized lymph node flap above the muscular fascia in the region of superficial lymphadenectomy. The patient had undergone technetium injection into the left hand the day prior to surgery in order to identify lymph nodes draining this extremity ('reverse lymphatic mapping’).

The characteristic MR findings in SIDs with GM1 gangliosidosis were identified. MR findings consistently indicated diffuse hyperintensity in the white matter of the entire cerebrum on T2W images from 2 months of age at the latest and persisting until the terminal stage. Brain atrophy manifested at 9 months of age and progressed thereafter. These MR characteristics could be used as a diagnostic and/or therapeutic biomarker for this canine GM1 gangliosidosis model.

Atrial pacing thresholds showed a slight increase in the course after the MRI scans (Figure 2a). The measured values were not significantly different between the follow-ups (Table 5). One patient had an increase of the atrial pacing threshold by 75% (from 0.4 V/0.4 ms to 0.7 V/0.4 ms) from the 1st FU to the 2nd FU. There was no further change observed until the 1-month FU.

The photo and schematic approach of the case. TA1 and TA2. Medial and lateral testicular arteries. ARA – accessory renal artery. LRA – left renal artery. SRG – part of the suprarenal gland pierced by the lateral testicular artery (TA2). LK – left kidney. AA – abdominal aorta. IMA – inferior mesenteric artery. LS-RV – left suprarenal vein. GFN – genitofemoral nerve. PM – psoas major muscle.

We identified a heterozygous mutation in the splicing donor sequence in intron 3 of ENG (c.360+1G > A) from the proband sample. This mutation was previously reported that it causes an in-frame deletion of exon 3 (47 amino acids; p.Gly74_Tyr120del) and that the mutant protein fails to localize at the plasma membrane but stays in the cytosol . Genetic analysis from symptomatic and asymptomatic family members identified the same mutation from family members with epistaxis and/or PAVM. No mutation was found in two children of the affected proband's sister (I-3).

The present patient series comprised a total of 43 male patients from 38 unrelated families with a diagnosis of a PLP1-related disorder. The diagnosis was predicated upon clinical evaluation and was supported by MRI studies performed in all patients except one. The main clinical and neuroradiological findings of these patients are summarized in Table 1.

Legend: Fam = Family; Pt = Patient; d = day(s) m = month(s); y = year(s); NT = not tested; * indicates peripheral neuropathy present in the symptomatic mother; MR = mental retardation; MRI = magnetic resonance imaging; Hypo = hypomyelination; Supra = supratentorial; Infra = infratentorial; # according to Cailloux et al. ; ♦indicates score not assessable in patients below 12 months of age; NA = not available; ♠flags mutations predicted to alter RNA processing; ♣indicates data based on molecular findings in the mother's DNA samples

The patient was mechanically ventilated and an empirical antibiotic treatment (Imipenem and Claritromicine) was given. Both low lobes were observed to have generalized interstitial infiltrate when complementary studies such as chest X-ray and computerized axial tomography lung hepatization were carried out.

An orthopantomogram revealed absence of permanent tooth buds of permanent mandibular right and left lateral incisors and permanent mandibular right central incisor (Figure 3) and there was a generalized delay in the development of permanent tooth buds. Delayed root formation of permanent first molars was noted. No supernumerary teeth were seen in the radiograph. PA skull revealed delayed closure of fontanelle (Figure 4). CT scan of skull was done revealing focal defect in frontal bone measuring upto 3.8 cm (Figure 5).

After that a 10 mm dermal tube was made over a no 18 epidural catheter with microscopic magnification and by interrupted 8-0 prolen (Ethicon) sutures (Figure 5). The tube positioned into the nerve gap and after insertion of both nerve ends into the tube each nerve end was sutured. Both proximal and distal part of the nerve were sutured to the tube using four 10-0 Nylon (Ethicon) sutures.

Whether the risk of RVOTO is also increased in other subgroups of monochorionic pregnancies besides TTTS is not well known. We report a monochorionic twin pregnancy with sIUGR in which RVOTO was detected in the larger twin in the 2nd trimester of pregnancy and discuss possible causative mechanisms.

I wouldn't wanna do [genetic testing] too late. Because what if you wanna start a family? I would say you have to do it before you start a family. Because that could play in your idea of having a family. (This 24-year-old participant learned of the mutation in her family in her late-teens and underwent predictive genetic testing at the age of 21. She did not have children at the time of testing).

The patient's height and head circumference were below the third percentile. Radiographs of hands showed an abnormal hypoplastic trapezoid middle phalanx with duplication of distal phalanx of the right second finger and a hypoplastic first metacarpal in both hands (Figure 6).

Patient example (A) shows acute myocardial infarction (MI) on late gadolinium enhancement images and (B) corresponding edema in the anterior/anteroseptal segments on T2-weighted (T2) images and (C) shows corresponding 3D tagging at endsystole (grey arrows = inferior junction of the right ventricle (RV) with the interventricular septum represents the beginning of circumferential postion). (D) represents circumferential signal intensities on late gadolinium enhancement images and (E) on T2-weighted images.

Patient example with anterior myocardial infarction (MI). Top row shows edema in the anterior/anteroseptal segments (white arrows) on T2-weighted (T2) short-axis images (equatorial slice) after acute MI (A) and absent edema at 4 months (B). Bottom row shows corresponding late gadolinium enhancement (LGE) images with scar formation in the anterior/anteroseptal segments (black arrows) after acute MI (C) and at 4 months (D).

We present a case of tonsillar lipoma in a young adult which was managed with excision of the lesion without the need for a tonsillectomy and showed no recurrence at 2-year followup. The case highlights the fact that tonsillar lipomas can present with airway obstruction and that simple excision of the lesion without the need for tonsillectomy is sufficient for the management of these lesions.

a Family pedigree. The patient’s younger brother (II.2) has the same biallelic mutation in the NBAS gene. b Sanger sequencing chromatograms confirming the segregation of two NBAS missense mutations: c.1018G>C (p.Gly340Arg) and c.2674G>T (p.Val892Phe) in this family

The compound heterozygous for PMM2 c.241–-242 del (in exon 3) and c.395 T > C (in exon 5) mutations were found in these siblings (Table 2). Table 2Identified mutationsGeneExonNucleotide mutationsAllele stateProtein effectdbSNP IDMutation typePhenotypePMM23c.241-242delhetp.L82Vfs*2novelframeshiftcongenital disorder of glycosylationPMM25c.395 T > Chetp.I132Tknownnonsynonymous

Genetics. (A) Pedigree of the family in which the mutation has been identified. The arrow points to the proband. Genotypes are shown. T/T: wild-type (WT) genotype; T/C: heterozygous genotype. Squares indicate males while circles indicate females. The legend of each kind of symbol filling is reported. (B) Electropherogram from the proband heterozygous for the transition c.754T>C (RefSeq NM_000742.3) that corresponds to the missense mutation p.Tyr252His. (C) Amino acid multiple alignment of the α2 subunit of the nAChR sequence displaying evolutionary conservation of Tyrosine Y residue across species.

CT Angiography and MRI were not available at this time. Bilateral carotid Duplex ultrasound revealed normal blood flow in both carotid arteries. Full laboratory investigations were done and were within normal. Provisional diagnosis as stroke was done and the patient was transported emergently to the intensive care unit (ICU) for observation under heparin 1000 IU infusion/hour.

The mean ± SD visual acuity in logMAR was 0.61 ± 0.65 preoperatively and 0.67 ± 0.611 days postoperatively. Visual acuity improved after preoperative levels 1 week after surgery and slightly improved over the next 12 months with a mean ± SD of 0.52 ± 0.63 at 12 months (Fig. 4).

This case report illustrates the importance of the methods used for bacterial identification to correctly diagnose such infections. Biochemical methods (2–8) and MALDI-TOF mass spectrometry (as done in our investigation) could result in misidentification. This report highlights the usefulness of analyzing MALDI-TOF mass spectrometry scores before assigning a species identity and sequencing the 16S RNA gene for bacteria not identifiable by conventional methods.

The surgical procedure was performed under sub-Tenon local anesthesia using 2% lidocaine. All patients underwent phacoemulsification and aspiration (via a 2.8 mm clear corneal incision at the superior limbus) and posterior capsular implantation of an acrylic foldable IOL.

An endocrine consult note on POD six suggested that DKA was likely secondary to the amiodarone boluses administered hours earlier. The patient remained clinically stable on an insulin infusion before being transitioned to a basal/bolus insulin regimen on POD 16 in preparation for discharge to cardiac rehab. The patient’s acute delirium continued to be managed with scheduled IV haloperidol 1 mg and a retrial of quetiapine PO without incident. The patient was eventually discharged home from inpatient cardiac rehab on a basal/bolus insulin regimen.

The fourth carpal bone was the largest bone in the distal row (Figure 8a). The third carpal bone was flattened mediolaterally and comma shaped on the DPa view of the carpus (Figure 8a). The second carpal bone was the smallest bone in the distal row and was almost triangular (Figure 8a). The first carpal bone was well developed and articulated distally with the first metacarpal bone (Figure 8a).

My daughter just turned 12 and was diagnosed with this this past week. She has been experiencing symptoms since she was about 15 months old. I feel so relieved to finally have some answers but also sad that it took so long to figure out. She has had fever free periods in her life but for the most part she gets quite sick every few weeks. (FB).

DNA sequence at codon 178 of PRNP gene from the patient (A) and a normal case (B). The red arrow indicates the c.532G > A mutation causing a substitution of GAC (asparagine) by AAC (aspartic) at codon 178 of the protein. DNA sequence at codon 129 of PRNP gene from the patient (C) shows Met at codon 129 of the PRNP gene.

a Patient did posterior nostril plasty operation by nasal endoscope and put silicone tube in one month. b Chest radiograph at 3 days. c Computed tomography revealed bilateral choanal atresia and semi-circular canals as an insufficient inflatable structure. d Craniocerebral ultrasound showed bilateral lateral ventricle dilatation. e Echocardiography showed atrioventricular septal defect (6.8 mm + 2.2 mm) and patent ductus arteriosus (3.6 mm)

A 37-year-old female patient with APS diagnosed 17 years ago is brought to the emergency department due to syncope. The past medical history was positive for multiple transfusions due to hemolytic anemia and decreased visual acuity in recent months accompanied by continuous headaches of moderate intensity.

Laboratory tests showed anticardiolipin antibodies (ACA) IgG of 120 GPL-U/ml (positive: >10 GPL-U/ml) and IgM of 6 MPL-U/ml (negative: <7 MPL-U/ml). Severe microcytic anemia (HB: 3.6 g/dl) and thrombocytopenia require transfusion of two globular concentrates and five units of platelets. Peripheral blood smear revealed schistocytes.

The patient met the criteria for definite CAPS associated with alveolar hemorrhage. Intravenous pulses of methylprednisolone 1 g daily IV and enoxaparin 60 mg daily SubQ to maintain isocoagulation state due to risk of hemorrhagic conversion of ischemic strokes were added to the already placed ventilatory support. The patient's critical condition prevented her from underwent bronchoscopy or pulmonary biopsy.

Analysis of Sanger sequencing shown in Figure 2A identified a homozygous nonsense variant (c.1098C>A; p.Cys366*) in exon 5 of the WNT10B gene in both affected individuals (IV:1 and IV:2) of the family. Their parents were heterozygous for the same variant (Figure 2B). This variant leads to premature termination of the 389 amino acid protein in the main WNT domain (Figure 2C). Other vertebrate species indicated in Figure 1D share similar variant and an overall gene sequence.

We have reported a novel sequence variant (c.1098C>A; p.Cys366*) in the WNT10B gene in a consanguineous Pakistani family presenting with SHFM type 6. This study further extended the spectrum of mutations in the WNT10B gene which might be helpful in proper molecular diagnosis and genetic counseling.

The patient was diagnosed with SLE at 34 years of age and was being treated with an oral immunosuppressant (tacrolimus; 3 mg/day) in addition to a steroid (predonine; 10 mg/day) for the past 15 months. His history also included a laparoscopic ileostomy performed 2 months before admission due to an intractable rectal ulcer.

An upper gastrointestinal endoscopy showed the all-round ulcerative lesion over a large region from a superior duodenal angle (SDA) to the descending portion of duodenum. The well-demarcated lesion consisted of an ulcer with a regular elevated margin that had an auricle-like shape

Steps during the operation. A. View of the mass before starting the operation. B. Sternal mass removal. C. Drain placement. D. Large pectoralis muscle mobilization before muscle flap transposition. E. Gore-Tex dual mesh placement. F. Sternal mass after surgery.

Results and discussion text “ The patient was diagnosed with chronic HBV infection” is also misleading the result present show the patient had chronic hepatitis And an HBV infection and that is all without laboratory proof that the patient had chronic hepatitis B infection.

The diagnosis of advanced unresponsive necrotizing myositis with poor prognosis and low survival rate was communicated to the family immediately post-operatively. The patient was transferred intubated from the OR to the ICU for adequate monitoring and critical management.

Here we present three differing cases which add to the literature supporting bariatric surgery as a safe treatment modality in individuals who are HIV positive. Our cases series is novel as we have compared the effects of bariatric surgery on weight reduction and glycemic control in patients with HIV infection as well as patients without HIV infection.

A 53-year-old female was admitted for evaluation of flank pain radiating to the left lower quadrant of her abdomen. Relevant past medical history includes previous left renal calculi requiring ureteral stenting and nonischemic cardiomyopathy with reduced ejection fraction. Laboratory studies were remarkable for leukocytosis and acute renal injury. Imaging studies revealed multiple adjacent obstructing calculi in the mid left ureter causing moderate left-sided hydronephrosis. Patient was boarded for emergent cystoscopy and underwent left ureteral stent placement with no intraoperative events.

Fully informed consent was obtained with some document. Written informed consent was obtained from the patient for publication of this case report and accompanying images. A copy of the written consent is available for review by the Editor-in-Chief of this journal on request.

Fig. 1Case 1: computed tomography (CT) angiography of penetrating aortic ulcer (PAU) on the thoracic aorta with a maximal diameter of 57mm. A) Oblique sagittal section on maximal diameter. B) Oblique sagittal section showing its relation to the great vessels. C) Reconstruction of the aneurysm.

Case 1: computed tomography (CT) angiography of penetrating aortic ulcer (PAU) on the thoracic aorta with a maximal diameter of 57mm. A) Oblique sagittal section on maximal diameter. B) Oblique sagittal section showing its relation to the great vessels. C) Reconstruction of the aneurysm.

Fig. 6Case 6: computed tomography (CT) angiography of aortic dissection showing true lumen (TL) and false lumen (FL). A) Coronal section showing the dissection in the ascending aorta with its intimal tear. B) Axial section at the level of the intimal tear.

Fig. 8Case 1: A) Fluoroscopy of the patient. B) Failure after deploying first endoprosthesis. C) After second endoprosthesis deployment on Zone 2. D) Fluoroscopy of the prototype. E) Simulation of endoprosthesis deployment on prototype. F) Prototype after endoprosthesis deployment.

Case 1: A) Fluoroscopy of the patient. B) Failure after deploying first endoprosthesis. C) After second endoprosthesis deployment on Zone 2. D) Fluoroscopy of the prototype. E) Simulation of endoprosthesis deployment on prototype. F) Prototype after endoprosthesis deployment.

The SCJ defect is evaluated and the flap is planned. A flap consisting of skin and subcutaneous tissue is raised in a medial to lateral dissection. This dissection exposes the underlying pectoralis major muscle. An incision is made in the upper one-half of the pectoralis muscle at the lateral most aspect of the exposure. The fibers of the muscle are then divided in a longitudinal manner in the direction of the muscle’s origin on the sternum. The flap can then be rotated about 45 to 60 degrees to cover the SCJ defect. This configuration has ample muscle for soft tissue coverage. It is well vascularized from the intact sternal perforators of the IMA. The TAA is sacrificed.

This guide wire was the beginning of ultrasound-specific equipment and it had successfully facilitated the percutaneous and nonfluoroscopic procedure. Further clinical studies were warranted to verify the effectiveness of this ultrasound-specific device that had the potential to incentivize the use of ultrasound guidance technology.

Sixteen cases with a deletion in the short arm of chromosome 19 are described in detail in the literature. Patients presented with neonatal hypotonia and developmental delay. Other findings varied significantly. We describe the perinatal course of an infant with a 3.7‐megabase deletion in the short arm of chromosome 19.

a Sequence analysis. DNA sequence chromatograms showing the heterozygous nonsense mutation (red arrowhead) in exon 8 of PTCH1 (LRG_515t1:c.1111C > T). b Localization of the PTCH1 mutation on a schematic image of protein patched homolog 1. The black arrowhead indicates the region of the nonsense mutation in the patched protein

Gauderer and Ponsky first discovered percutaneous endoscopic gastrostomy (PEG) as a means of providing nutrition delivery in patients with oropharyngeal dysphagia . The first case of "buried bumper syndrome" (BBS) was reported by Nelson and treated with endoscopic forceps . Prompt recognition of the syndrome is essential in providing the appropriate treatment to prevent clinical deterioration. The diagnosis should be suspected when a patient with a PEG tube presents with pain and erythema and swelling around the PEG tube insertion site. These patients should be admitted to the hospital and resuscitated with intravenous fluids and antibiotics. Removal of the tube is the ultimate treatment and can be achieved by either endoscopy or surgery.

This study was approved by the Ethics Committee of First Affiliated Hospital to Army Medical University. Written informed consent for gene analysis was obtained from the legal guardian of the patient. We performed whole exome sequence capture on peripheral blood DNA samples from the patient. Sanger sequencing was used to validate the PNPLA2 (NM_020376: c.155C > G; p.Thr52Arg) homozygous variant identified by whole exome sequencing. Gene analysis revealed a novel homozygous mutation c.155C > G (p.Thr52Arg) in PNPLA2 (Fig. 1). Screening of the family confirmed that his mother was heterozygous for the PNPLA2 gene mutation (Fig. 2).Fig. 1Genetic mutation in the PNPLA2 gene at chromosome 11:819873 of the patientFig. 2Genetic mutation in the PNPLA2 gene at chromosome 11:819873 of the patient’s mother

One-year follow-up examination showed no recurrences of the disease and an acceptable aesthetic and functional result (Fig. 3).Fig. 3Immediate postoperative result after the O-Z flap reconstruction (A) and the one-year follow-up picture showing no recurrences of the disease and an acceptable aesthetic result (B).Fig. 3

Ong et al. presented a case of primary Sjögren‘s syndrome with dominant severe obsessive-compulsive together with depressive symptoms requiring psychiatric hospitalization. The diagnosis was eventually made based on the presence of serum biomarkers of Sjögren‘s syndrome coupled with CSF findings of mild inflammation. A few months of treatment with various immunosuppressants together with plasmapheresis resulted in a complete remission of all neuropsychiatric symptoms. The authors suggest that the clinical approach to the management of psychotropic–resistant obsessive-compulsive disorder should also include a careful search for biomarkers of inflammation and autoimmunity.

Computed tomography findings. a Computed tomography revealed centralization of the mesenteric vessels and turbidity of the small intestine mesenteric fat around these vessels (arrow). These findings indicated incarceration and ischemic change of the small intestine. b The presence of fluid with high density under the diaphragm (arrow) indicated bloody ascites

Contrast-enhanced point-like signals were observed in the upper outer region of the left breast (Fig. 1c). Swollen lymph nodes with contrast-enhanced findings were noted in the left axilla (Fig. 1d). The center of the lymph nodes showed poor contrast findings.

This case report showed that the use of zygomatic implants in a severely atrophic maxilla provides a sufficiently stable support for the installation of a total-fixed prosthesis in the atrophic maxilla of a lip-palate cleft patient with good clinical outcomes after two years of follow-up.

Sagittally scanned high resolution 3D T2 spine view of the lumbar spine acquired with nearly isotropic voxels and Compressed SENSE in a patient with spinal canal stenosis (A). Secondary multiplanar transverse (B and C) and coronal reconstructions (D) were performed.

Our patient experienced a very severe SOS/VOD without classical risk factors. The diagnosis should be considered in a patient who develops a “fulminant hepatitis” after an intensive chemotherapy since early intervention could improve outcome. One should pay particular attention to this atypical presentation in order to dispense optimal care.

Our findings on higher possibility of toxic alkaloids occurrence in urine sample when compared to plasma sample provided a reasonable explanation of a previous clinical poisoning case reported that concentration of toxic alkaloids in urine was much higher than those in blood and supported urine test for Fuzi poisoning diagnosis in clinic.

Histopathology examination revealed neoplastic growth composed of Sheet of diffuse atypical plasma cells infiltrating fibro collagenous and adipose tissue ( Figure 8A). These atypical cells show variable degree of maturation from plasmablastic cells to plasma cells. Nuclei are enlarged showing both bi and multi neuclated cells with prominent nucleoli (Figure 8B). Perineuclear of and Russell bodies are also seen (Figure 8C).

A small bowel resection with functional end-to-end anastomosis was successfully undertaken and the surgical site thoroughly irrigated with normal saline solution. The remainder of the small bowel was unremarkable in appearance with no evidence of bowel ischemia.

Prosthetic joint infection from the BCG strain of M. bovis is a rare infectious complication of prior BCG therapy and requires a high-index of suspicion. A thorough history and working knowledge of unusual causes of prosthetic joint infection allowed for a rapid diagnosis and initiation of therapy.

Fig. 6Bone scintigraphs show abnormal local uptake in the antero-posterior (A) and postero-anterior (B) and lateral views of the right side (C) and left side (D) of the patient with stress fractures. Arrows indicate longitudinal linear uptake in the bone scintigraph views of the patient with stress fractures

Color fundus photographs demonstrating retinal arteriolar microaneurysm (RAM) appearance in the left eye of 59-years old male before (a) and three months after (b) the navigated laser photocoagulation procedure. Note significant whitening of the retina surrounding the RAM and local preretinal hemorrhage. Cross-sectional optical coherence tomography scans before navigated laser photocoagulation procedure (c) and three months after the procedure (d) demonstrate significant improvement in retinal exudation. Best corrected visual acuity increased from 20/63 to 20/32

Color fundus photographs demonstrating retinal arteriolar microaneurysm (RAM) appearance in the left eye of 79-years old female before (a) and immediately after (b) navigated laser photocoagulation procedure. Note subtle whitening of the RAM without changes in the surrounding retina. Cross-sectional optical coherence tomography scans before navigated laser photocoagulation procedure (c) and 2 months after the procedure (d) demonstrate significant improvement in retinal exudation. Best corrected visual acuity increased from 20/100 to 20/40

Seven of the eight patients required hospital admission. Calcium levels at and after admission are shown in Figure 1. Three patients required intravenous calcium replacement with cardiac monitoring in an intensive care/high dependency unit. Four patients were managed in the ward and one patient was managed as an outpatient.

This case reiterates the association between intussusception and rotavirus vaccination and we recommend that awareness of this uncommon but significant association should lead to a lower threshold for investigation when a recent of history of rotavirus vaccination is present.

Patients usually present either as having gross hematuria after upper respiratory tract infection or may present as microscopic hematuria with varying degree of proteinuria . Nephrotic-range proteinuria is seen in usually more severe cases. Thrombotic microangiopathy can also be found in cases of IgA nephropathy due to malignant hypertension and indicates a poor renal outcome as seen in our case .

Our case highlights the concurrent existence of IgA nephropathy with FSGS and indicates that co-existence leads to poor prognosis. There is a strong possibility of patients having a progressive course leading to ESRD and early diagnosis and treatment are of key importance.