Temporal Bone Histopathology of X-linked Inherited Alport Syndrome.

Objective: To describe the histopathologic findings within the human cochlea in X-linked Alport syndrome.

Study Design: Histopathologic analysis of cellular elements within the human cochlea by light microscopy.

Materials And Methods: A right and a left cochleae of a man with genetically confirmed X-linked Alport syndrome was studied post-mortem.

Ga-PSMA is a novel PET-CT tracer for imaging of hepatocellular carcinoma: A prospective pilot study.

Ga-Prostate Specific Membrane Antigen (Ga-PSMA), a positron emission tomography (PET) tracer that was recently introduce for imaging of prostate cancer, may accumulate in other solid tumors including Hepatocellular Carcinoma (HCC). The aim of the study was to assess the potential role of Ga-PSMA PET-Computed Tomography (CT) for imaging of HCC. A prospective pilot study in seven patients with HCC with 41 liver lesions: 37 suspected malignant lesions (tumor lesions) and 4 regenerative nodules.

Obesity Management Task Force of the European Association for the Study of Obesity Released "Practical Recommendations for the Post-Bariatric Surgery Medical Management".

Bariatric patients may face specific clinical problems after surgery, and multidisciplinary long-term follow-up is usually provided in specialized centers. However, physicians, obstetricians, dieticians, nurses, clinical pharmacists, midwives, and physical therapists not specifically trained in bariatric medicine may encounter post-bariatric patients with specific problems in their professional activity. This creates a growing need for dissemination of first level knowledge in the management of bariatric patients.

Benefit-risk profile of cytoreductive drugs along with antiplatelet and antithrombotic therapy after transient ischemic attack or ischemic stroke in myeloproliferative neoplasms.

We analyzed 597 patients with myeloproliferative neoplasms (MPN) who presented transient ischemic attacks (TIA, n = 270) or ischemic stroke (IS, n = 327). Treatment included aspirin, oral anticoagulants, and cytoreductive drugs. The composite incidence of recurrent TIA and IS, acute myocardial infarction (AMI), and cardiovascular (CV) death was 4.

Clinical, Biomarker, and Molecular Delineations and Genotype-Phenotype Correlations of Ataxia With Oculomotor Apraxia Type 1.

Importance: Ataxia with oculomotor apraxia type 1 (AOA1) is an autosomal recessive cerebellar ataxia due to mutations in the aprataxin gene (APTX) that is characterized by early-onset cerebellar ataxia, oculomotor apraxia, axonal motor neuropathy, and eventual decrease of albumin serum levels.

Objectives: To improve the clinical, biomarker, and molecular delineation of AOA1 and provide genotype-phenotype correlations.

Design, Setting, And Participants: This retrospective analysis included the clinical, biological (especially regarding biomarkers of the disease), electrophysiologic, imaging, and molecular data of all patients consecutively diagnosed with AOA1 in a single genetics laboratory from January 1, 2002, through December 31, 2014.

Expression of Topoisomerase II-α protein in salivary gland tumors.

Salivary glands give rise to approximately 30 histological distinct tumor types, which results in a diagnostic challenge for the pathologist. The present retrospective, immunohistochemical study aimed to evaluate the expression of Topoisomerase II-α, a nuclear enzyme, as a diagnostic and prognostic marker in benign and malignant salivary gland tumors, including leomorphic adenoma, mucoepidermoid carcinoma, acinic cell carcinoma and carcinoma ex-pleomorphic adenoma. A total of 59 cases of benign and malignant salivary gland tumors were included in the present study.

Explicit Motives, Antecedents, and Consequences of Direct Self-Injurious Behaviors.

Background: Self-injurious behaviors in adolescence are a serious public health concern.

Aims: The current study aims to expand our understanding of motives for direct self-injurious behaviors (D-SIB). We examined the explicit motives but also the actual antecedents and consequences of D-SIB over time.

Clinical spectrum and genotype-phenotype associations of KCNA2-related encephalopathies.

Recently, de novo mutations in the gene KCNA2, causing either a dominant-negative loss-of-function or a gain-of-function of the voltage-gated K+ channel Kv1.2, were described to cause a new molecular entity within the epileptic encephalopathies. Here, we report a cohort of 23 patients (eight previously described) with epileptic encephalopathy carrying either novel or known KCNA2 mutations, with the aim to detail the clinical phenotype associated with each of them, to characterize the functional effects of the newly identified mutations, and to assess genotype-phenotype associations.

Predictors of 1-Year Mortality After Transcatheter Aortic Valve Implantation in Patients With and Without Advanced Chronic Kidney Disease.

Advanced chronic kidney disease (CKD) is an independent predictor of mortality in patients undergoing transcatheter aortic valve implantation (TAVI). We aimed to identify predictors of 1-year mortality in patients after TAVI stratified by the presence or absence of advanced CKD (defined as estimated glomerular filtration rate ≤30 ml/min/1.73 m or permanent renal replacement therapy).

Assessment and Management of Acute Severe Mitral Regurgitation in the Intensive Care Unit.

Background And Aim Of The Study: Acute severe mitral regurgitation (MR) is a serious medical condition. Whilst clear guidelines exist regarding the management of chronic MR, acute severe MR is usually treated on an individual basis. Currently, few data exist regarding acute MR in the era of primary coronary interventions (PCI).

Laparoscopic partial nephrectomy for tumors 7cm and above. Perioperative outcomes.

Purpose: To assess and report the outcomes of laparoscopic partial nephrectomy )LPN) for T2 renal masses.

Materials And Methods: Retrospective review of patients undergoing LPN for clinically localized renal masses ≥7cm between the years 2005-2016. Descriptive analyses were generated for demographics, lesion characteristics, perioperative variables (operative time, warm ischemia time (WIT), estimated blood loss (EBL), intra-operative and post-operative complications (IOC and POC) and pathologic variables (pathology, subtype and Fuhrman grade).

CT Image-based Decision Support System for Categorization of Liver Metastases Into Primary Cancer Sites: Initial Results.

Rationale And Objectives: This study aimed to provide decision support for the human expert, to categorize liver metastases into their primary cancer sites. Currently, once a liver metastasis is detected, the process of finding the primary site is challenging, time-consuming, and requires multiple examinations. The proposed system can support the human expert in localizing the search for the cancer source by prioritizing the examinations to probable cancer sites.

Different effects of bariatric surgical procedures on dyslipidemia: a registry-based analysis.

Background: The scale and variables linked to bariatric surgery's effect on dyslipidemia have not been conclusive.

Objective: To compare the effect of Roux-en-Y gastric bypass (RYGB), sleeve gastrectomy (SG), and adjustable gastric banding (LAGB) on dyslipidemia SETTING: National bariatric surgery registry.

Methods: Plasma lipids and associated variables were compared at baseline and 1 year (12±4 mo) after surgery for registry patients with dyslipidemia enrolled from June 2013 to August 2014.

Extracellular microRNAs in follicular fluid and their potential association with oocyte fertilization and embryo quality: an exploratory study.

Purpose: The purpose of this study is to determine the profile of extracellular microRNAs (exmiRNAs) in follicular fluid (FF) and explore their association with fertilization potential and embryo quality.

Methods: We collected FF from single follicles containing mature oocytes from 40 women undergoing IVF and we screened for the expression of 754 exmiRNAs in FF using the TaqMan OpenArray® qPCR platform. To determine the association of exmiRNAs and IVF outcomes, we compared their expression levels in FF samples that differ by fertilization status (normally, abnormally, and failed to fertilize) and embryo quality (top vs.

Shared Decision Making During Active Psychiatric Hospitalization: Assessment and Psychometric Properties.

Encouraging patients to be involved in their care and enhancing shared decision making (SDM) have been advocated over the past two decades as means to enhance patient-centered care. However, one of the barriers to implementing SDM in medical consultations is the need to adapt this approach to various populations and medical settings, including mental health, and developing reliable and practical methods for measuring and assessing SDM. This article presents the psychometric properties and validity of an adapted scale, SDM-Q-9-Psy, that assesses SDM in routine care among psychiatric inpatients.

Primary Total Hip Arthroplasty: Equivalent Outcomes in Low and High Functioning Patients.

Objective: Previous studies suggest that patients with poorer physical function prior to undergoing total hip arthroplasty (THA) have a lower postoperative functional outcome. We sought to determine if the preoperative level of function was predictive of the outcome in patients undergoing THA using modern perioperative protocols and surgical techniques.

Methods: A prospective cohort study design evaluated the preoperative and 2-year postoperative health-related quality of life (HRQoL) scores of 200 patients who underwent THA.

Transperineal implantation of gold fiducial markers (gold seeds) for prostate image-guided radiation therapy: a feasible technique associated with a low risk of complications.

Introduction: The purpose is to describe the method, safety and efficacy of transperineal gold seed placement for image-guided radiation therapy.

Methods: An ethics committee approved database was used to review records of consecutive patients from October 2008 through December 2013, who underwent transperineal implantation of three gold markers into the prostate using staged local anaesthesia and transrectal ultrasound. Seeds were counted on radiographs from CT simulation, first treatment and last treatment.

Longitudinal Study Evaluating Postural Balance of Young Athletes.

Repeated anaerobic conditions during athletic performance may cause general and local fatigue that result in postural balance deficit. Evidence suggests that improved postural balance during athletic training may decrease the risk for fallings and traumatic injuries among athletes. Twenty athletes (12 girls, 8 boys) and 20 controls (12 girls, 8 boys) ages 10-15 years participated in the current study.

Chromatin remodeling enzyme Snf2h regulates embryonic lens differentiation and denucleation.

Ocular lens morphogenesis is a model for investigating mechanisms of cellular differentiation, spatial and temporal gene expression control, and chromatin regulation. Brg1 (Smarca4) and Snf2h (Smarca5) are catalytic subunits of distinct ATP-dependent chromatin remodeling complexes implicated in transcriptional regulation. Previous studies have shown that Brg1 regulates both lens fiber cell differentiation and organized degradation of their nuclei (denucleation).

Waist circumference is correlated with poorer cognition in elderly type 2 diabetes women.

Introduction: Waist circumference is associated with type 2 diabetes (T2D) and cognition, yet the relationship between waist circumference and cognition in individuals with T2D is not well understood.

Methods: We studied the relationship of waist circumference with five cognitive outcomes (executive functioning, language/semantic categorization, attention/working memory, episodic memory, and an overall cognition measure) in 845 cognitively normal elderly with type 2 diabetes (T2D).

Results: In women, waist circumference was correlated with significantly lower language and/or semantic categorization performance (P < .

Recurrent Pericarditis: Modern Approach in 2016.

Recurrent pericarditis is one of the most troublesome complications of pericarditis occurring in about one third of patients with a previous attack of pericarditis. The pathogenesis is presumed to be autoimmune and/or autoinflammatory in most cases. The mainstay of therapy for recurrences is physical restriction and anti-inflammatory therapy based on aspirin or NSAID plus colchicine.