The gendered pay gap in genetic counseling.

A gendered pay gap in the genetic counseling profession has been identified in recent years, though reasons for its existence have not been explored in depth. The primary aim of this study was to determine what demographic characteristics and career experiences influence annual salary rates and which of those factors differ between male and female genetic counselors. The secondary aim of this study was to determine whether genetic counselors perceive a pay gap and to identify attitudes toward their salaries.

Plaque Rupture-Induced Myocardial Infarction and Mechanical Circulatory Support in Alpha-Gal Allergy.

Alpha-gal (AG) allergy is an IgE-mediated allergic reaction to galactose-alpha-1,3-galactose found in mammalian meat. Heparin, being derived from porcine intestinal tissue, may have a degree of cross-reactivity with AG antigen and thus place patients at risk for allergic and even anaphylactic reactions. This is especially important in patients with myocardial infarction (MI) and mechanical circulatory support, such as a left ventricular assist device (LVAD), since anticoagulation is immediately required.

ProtoCaller: Robust Automation of Binding Free Energy Calculations.

ProtoCaller is a Python library distributed through Anaconda which automates relative protein-ligand binding free energy calculations in GROMACS. It links a number of popular specialized tools used to perform protein setup and parametrization, such as PDB2PQR, Modeller, and AmberTools. ProtoCaller supports commonly used AMBER force fields with additional cofactor parameters, and AM1-BCC is used to derive ligand charges.

Incidence, underlying conditions, and outcomes of patients receiving acute renal replacement therapies in tertiary cardiac intensive care units: An analysis from the Critical Care Cardiology Trials Network Registry.

Background: The prevalence of renal disease in cardiac intensive care units (CICUs) is increasing, but little is known about the utilization, concurrent therapies, and outcomes of patients requiring acute renal replacement therapy (RRT) in this specialized environment.

Methods: In the Critical Care Cardiology Trials Network, 16 centers submitted data on CICU admissions including acute RRT (defined as continuous renal replacement therapy and/or acute intermittent dialysis).

Results: Among 2,985 admissions, 178 (6.

Serious infections in patients with myasthenia gravis: population-based cohort study.

Background And Purpose: To characterize the frequency and risk of serious infections in patients with myasthenia gravis (MG) relative to age/sex/area-matched comparators.

Methods: This was a population-based cohort study in Ontario, Canada of patients with newly-diagnosed MG and 1:4 age/sex/area-matched general population comparators accrued from 1 April 2002 to 31 December 2015. The main outcome was a serious infection, defined by a primary diagnosis code on a hospitalization or emergency department record.

Pseudodiastrophic dysplasia expands the known phenotypic spectrum of defects in proteoglycan biosynthesis.

Background: Pseudodiastrophic dysplasia (PDD) is a severe skeletal dysplasia associated with prenatal manifestation and early lethality. Clinically, PDD is classified as a 'dysplasia with multiple joint dislocations'; however, the molecular aetiology of the disorder is currently unknown.

Methods: Whole exome sequencing (WES) was performed on three patients from two unrelated families, clinically diagnosed with PDD, in order to identify the underlying genetic cause.

Vascular Resections for Pancreatic Ductal Adenocarcinoma: Vascular Resections for PDAC.

Background And Aims: It has become clear that vein resection and reconstruction for pancreatic ductal adenocarcinoma (PDAC) is the standard of care as supported by multiple guidelines. However, resection of large peri-pancreatic arteries remains debatable.

Materials And Methods: This review examines the current state of vascular resection with curative intent for PDAC in the last 5 years.

Immune checkpoint inhibitors in advanced nasopharyngeal carcinoma: Beyond an era of chemoradiation?

Now is an exciting era of development in immunotherapy checkpoint inhibitors and their effect on the treatment of NPC. While the general prognosis of R/M disease is poor, immunotherapy offers some promise in a malignancy associated with EBV and characterized by a peritumoural immune infiltrate. Our study aims to review past and on-going clinical trials of monoclonal antibody therapies against the checkpoint inhibitors (e.

Case report: North Carolina macular dystrophy misdiagnosed as congenital ocular toxoplasmosis.

Purpose: This report discusses a case of North Carolina macular dystrophy (NCMD) in a 7-year-old boy initially diagnosed as congenital toxoplasmosis. Genetic testing was performed on the child and his family after the suspicion of NCMD was raised by the treating ophthalmologist. This case report highlights the similarities between congenital toxoplasmosis and NCMD.

Neurogenic Stunned Myocardium in Severe Neurological Injury.

Purpose Of Review: Neurogenic stunned myocardium (NSM) is a poorly recognized cardiac manifestation of neurological illness. This review addresses the contemporary understanding of NSM pathophysiology, epidemiology, diagnosis, and clinical management.

Recent Findings: While the precise pathophysiology and diagnosis remain unclear, NSM is phenotypically atypical stress cardiomyopathy that can be partially attributed to excess catecholaminergic toxicity.

Surgical Smoke Evacuators Reduce the Risk of Fires From Alcohol-Based Skin Preparations.

Surgical smoke evacuators may reduce the concentration of alcohol vapors from skin preparations at the site of electrosurgical device activation, decreasing operating room fire risk. Our aim was to compare the incidence of flames with and without smoke evacuation in a porcine ex vivo model. A monopolar device was activated after application of either 70% isopropyl alcohol/2% chlorhexidine gluconate (CHG-IPA) or 74% isopropyl alcohol/0.

Value of clinical trial narrative data to estimate the costs of adverse event management: a feasibility study.

The objective of this feasibility study was to determine the extent to which data from randomized controlled trials (RCTs) may serve as a useful source for collecting health care resource use (HCRU) for the purposes of estimating costs of managing adverse events (AEs), specifically, grade 3-4 nausea and thrombocytopenia, which may be experienced during chemotherapy treatment. The feasibility study was conducted in four steps: (1) HCRU data were extracted from patient narratives in four phase 3 RCTs in non-small cell lung cancer; (2) missing HCRU data were imputed; (3) unit costs were applied to the resulting HCRU data set and costs of managing AEs were estimated; and (4) the overall utility of using RCT data as a source for estimating costs of AEs was evaluated. 33 nausea and 68 thrombocytopenia AEs met eligibility criteria and were evaluated in this study.

A framework for assessing the lifetime economic burden of congenital cytomegalovirus in the United States.

Background: In the United States (US), congenital cytomegalovirus infection (cCMVi) is a major cause of permanent disabilities and the most common etiology of non-genetic sensorineural hearing loss. Evaluations of prevention strategies will require estimates of the economic implications of cCMVi. We aimed to develop a conceptual framework to characterize the lifetime economic burden of cCMVi in the US and to use that framework to identify data gaps.

Self-aligning prosthetic device for older patients with vascular-related amputations: protocol for a randomised feasibility study (the STEPFORWARD study).

Introduction: The majority of older patients with a transtibial amputation are prescribed a standard (more rigid, not self-aligning) prosthesis. These are mostly suitable for level walking, and cannot adjust to different sloped surfaces. This makes walking more difficult and less energy efficient, possibly leading to longer term disuse.

Novel KIT mutation presenting as marked lentiginosis.

Although lentigines are usually benign, they can be associated with a number of genetic syndromes in which neoplasms and other multi-system pathological processes occur. Here, we report the case of a 6-year-old girl who presented with atypical lentiginosis and hyperpigmentation caused by a de novo genetic variant in the KIT gene.

Evidence of small-fiber neuropathy in neurofibromatosis type 1.

Introduction: Large-fiber neuropathy is rare in neurofibromatosis type 1, but small-fiber neuropathy has not been studied.

Methods: Patients with neurofibromatosis type 1 underwent nerve conduction studies for large-fiber assessment. Small-fiber tests included quantitative thermal thresholds, laser Doppler flare imaging, intraepidermal nerve fiber density, and corneal nerve fiber length.

Qualitative, Patient-Centered Assessment of Muscle Cramp Impact and Severity.

Background: There is an urgent need for new therapeutic options to treat muscle cramps; however, no patient-reported measures exist that capture the entire cramp experience. We conducted a qualitative study to assess the experience of patients suffering muscle cramps, aiming to understand what factors determine the impact cramps have in patients' lives to guide the development of a patient-centered outcome measure of cramp severity and impact.

Methods: We enrolled patients with cramps due to several etiologies, including motor neuron disease, pregnancy-induced cramps, cirrhosis and hemodialysis, and idiopathic and exercise-induced cramps.

F-Choline PET/mpMRI for Detection of Clinically Significant Prostate Cancer: Part 1. Improved Risk Stratification for MRI-Guided Transrectal Prostate Biopsies.

A prospective single-arm clinical trial was conducted to determine whether F-choline PET/mpMRI can improve the specificity of multiparametric MRI (mpMRI) of the prostate for Gleason ≥ 3+4 prostate cancer. Before targeted and systematic prostate biopsy, mpMRI and F-choline PET/CT were performed on 56 evaluable subjects with 90 Likert score 3-5 mpMRI target lesions, using a F-choline target-to-background ratio of greater than 1.58 to indicate a positive F-choline result.

Chronic stress, depression and personality type in patients with myasthenia gravis.

Background And Purpose: Stress is a known risk factor for the onset and modulation of disease activity in autoimmune disorders. The aim of this cross-sectional study was to determine any associations between myasthenia gravis (MG) severity and chronic stress, depression and personality type.

Methods: In all, 179 consecutive adult patients with confirmed MG attending the Neuromuscular Clinic between March 2017 and December 2017 were included.

F-Choline PET/mpMRI for Detection of Clinically Significant Prostate Cancer: Part 2. Cost-Effectiveness Analysis.

The objective of this study was to evaluate the cost-effectiveness of F-choline PET/multiparametric MRI (mpMRI) versus mpMRI alone for the detection of primary prostate cancer with a Gleason score of greater than or equal to 3 + 4 in men with elevated prostate-specific antigen levels. A Markov model of prostate cancer onset and progression was used to estimate the health and economic consequences of F-choline PET/mpMRI for the detection of primary prostate cancer with a Gleason score of greater than or equal to 3 + 4 in men with elevated prostate-specific antigen levels. Multiple simultaneous hybrid F-choline PET/mpMRI strategies were evaluated using Likert or Prostate Imaging Reporting and Data System version 2 (PI-RADSv2) scoring; the first was biopsy for Likert 5 mpMRI lesions or Likert 3-4 lesions with F-choline target-to-background ratios of greater than or equal to 1.

Hepatic Ablation Promotes Colon Cancer Metastases in an Immunocompetent Murine Model.

Objective: To determine the impact of radiofrequency (RF) and microwave (MW) energy compared to direct cautery on metatstatic colon cancer growth.

Background: Hepatic ablation with MW and RF energy creates a temperature gradient around a target site with temperatures known to create tissue injury and cell death. In contrast, direct heat application (cautery) vaporizes tissue with a higher site temperature but reduced heat gradient on surrounding tissue.