Analysis of real world FRα testing in ovarian, fallopian tube, and primary peritoneal cancers.

Background: Epithelial ovarian cancer (EOC) remains a significant challenge in gynecologic oncology, particularly in the context of platinum-resistant disease. Mirvetuximab soravtansine (MIRV), was approved after trials revealed favorable response and survival outcomes. MIRV targets folate receptor alpha (FRα), a cell-surface receptor that is overexpressed in EOC and has been associated with aggressive disease phenotypes.

Repeat tracheal aspirate cultures in pediatric intensive care patients: Frequency, resistance, and antimicrobial use.

Objective: To evaluate the clinical impact and features associated with repeat tracheal aspirate (TA) cultures in children admitted to the intensive care unit.

Design: Retrospective cohort study.

Setting: A 338-bed freestanding, tertiary pediatric academic medical center with pediatric medical intensive care unit (PICU) and cardiac intensive care units (CICU).

Manganese exposure from spring and well waters in the Shenandoah Valley: interplay of aquifer lithology, soil composition, and redox conditions.

Manganese (Mn) is of particular concern in groundwater, as low-level chronic exposure to aqueous Mn concentrations in drinking water can result in a variety of health and neurodevelopmental effects. Much of the global population relies on drinking water sourced from karst aquifers. Thus, we seek to assess the relative risk of Mn contamination in karst by investigating the Shenandoah Valley, VA region, as it is underlain by both karst and non-karst aquifers and much of the population relies on water wells and spring water.

Sleep duration and association with cardiometabolic health in adolescents and adults with type 1 diabetes: Results from the BCQR-T1D study.

Aim: Type 1 diabetes (T1D) increases the risk of morbidity and mortality from cardiovascular disease, and insufficient sleep is prevalent. Emerging evidence suggests a link between sleep and cardiometabolic health, but this has not been examined across the lifespan in individuals with T1D. We aimed to examine associations between sleep and cardiometabolic health in adolescents and adults with T1D in a secondary analysis of data from a 4-week double-blind, random-order, placebo-controlled crossover trial of bromocriptine quick release (BCQR) therapy with a 4-week washout in between conditions.

Use of video-electroencephalography as a first-line examination in veterinary neurology: development and standardization of electroencephalography in unsedated dogs and cats.

Objective: To assess the feasibility and validate the use of video-electroencephalography (EEG) in conscious dogs and cats and to propose guidelines of routine EEG in veterinary clinical practice.

Design: Prospective clinical study.

Data: One hundred and fifty EEG recordings were carried out to validate the clinical adding-value, reproducibility, and guidelines on 140 owned animals.

Community-acquired bacterial pneumonia in children: an update on antibiotic duration and immunization strategies.

Purpose Of Review: This review is structured to update clinicians on the epidemiology, antibiotic treatment, and prevention of pediatric bacterial pneumonia. The review provides information regarding the current research on antibiotic management for bacterial pneumonia and the newest immunization recommendations to prevent pneumococcal pneumonia and other respiratory infections.

Recent Findings: The recommended length of antibiotic therapy for bacterial pneumonia has been discrepant between low-income and high-income countries.

Bromocriptine quick-release as adjunct therapy in youth and adults with type 1 diabetes: A randomized, placebo-controlled crossover study.

Aim: To evaluate the potential for glycaemic, renal and vascular benefits of bromocriptine quick release (BCQR) in adolescents and adults with type 1 diabetes.

Materials And Methods: Forty adolescents and 40 adults with type 1 diabetes aged 12-60 years old were enrolled in a double-blind, placebo-controlled, random order crossover study of 4 weeks of treatment in the morning with BCQR (titrated weekly from 0.8 mg to 1.

An Educational Assessment of Evidence Used for Variant Classification: A Report of the Association for Molecular Pathology.

The Association for Molecular Pathology Variant Interpretation Testing Among Laboratories (VITAL) Working Group convened to evaluate the Standards and Guidelines for the Interpretation of Sequence Variants implementation into clinical practice, identify problematic classification rules, and define implementation challenges. Variants and associated clinical information were provided to volunteer respondents. Participant variant classifications were compared with intended consensus-derived classifications of the Working Group.

Clinical pharmacogenomic testing and reporting: A technical standard of the American College of Medical Genetics and Genomics (ACMG).

Pharmacogenomic testing interrogates germline sequence variants implicated in interindividual drug response variability to infer a drug response phenotype and to guide medication management for certain drugs. Specifically, discrete aspects of pharmacokinetics, such as drug metabolism, and pharmacodynamics, as well as drug sensitivity, can be predicted by genes that code for proteins involved in these pathways. Pharmacogenomics is unique and differs from inherited disease genetics because the drug response phenotype can be drug-dependent and is often unrecognized until an unexpected drug reaction occurs or a patient fails to respond to a medication.

Health Label and Behavioral Feature Prediction Using Bayesian Hierarchical Vector Autoregression Models.

The rising availability and accessibility of data from wearable devices and ubiquitous sensors allow the leveraging of computational methods to address human health and behavioral challenges. In particular, recent works have created time series, interpretable, and generalizable models for predicting patient healthcare outcomes from multidimensional data including expensive self-reported patient data, clinical data, and data from mobile and wearable devices. In this work, we used a Bayesian Hierarchical Vector Autoregression (BHVAR) model to predict behavioral and self-reported health outcomes on college student participants from passively collected data from their smartphones, wearable devices, and environment, as well as their self-reports.

Anthropogenic climate change has altered lake state in the Sierra Nevada (California, USA).

Climatic changes threaten freshwater resources and aquatic ecosystem health in the Sierra Nevada (California, USA), which has important consequences for millions of people and the world's fifth largest economy. However, the timing and magnitude of ecological changes driven by hydroclimate oscillations remain poorly understood in California's headwater region. Here, we develop a precisely dated, annually to decadally resolved lake sediment record of ecological change from the eastern Sierra Nevada that spans the last three millennia.

Barriers to help-seeking among intimate partner violence survivors with opioid use disorder.

Intimate partner violence is common among people with opioid use disorder (OUD), but little research has focussed on identifying barriers survivors with OUD face when trying to leave an abusive relationship. Semi-structured interviews were conducted with 40 postpartum women with OUD. Interview questions were designed to identify barriers to help-seeking and facilitators and supports that have helped survivors make positive changes.

The Science and Art of Clinical Genetic Variant Classification and Its Impact on Test Accuracy.

Clinical genetic variant classification science is a growing subspecialty of clinical genetics and genomics. The field's continued improvement is essential for the success of precision medicine in both germline (hereditary) and somatic (oncology) contexts. This review focuses on variant classification for DNA next-generation sequencing tests.

Laboratory testing for fragile X, 2021 revision: a technical standard of the American College of Medical Genetics and Genomics (ACMG).

Molecular genetic testing of the FMR1 gene is commonly performed in clinical laboratories. Pathogenic variants in the FMR1 gene are associated with fragile X syndrome, fragile X-associated tremor ataxia syndrome (FXTAS), and fragile X-associated primary ovarian insufficiency (FXPOI). This document provides updated information regarding FMR1 pathogenic variants, including prevalence, genotype-phenotype correlations, and variant nomenclature.

Reducing Sanger confirmation testing through false positive prediction algorithms.

Purpose: Clinical genome sequencing (cGS) followed by orthogonal confirmatory testing is standard practice. While orthogonal testing significantly improves specificity, it also results in increased turnaround time and cost of testing. The purpose of this study is to evaluate machine learning models trained to identify false positive variants in cGS data to reduce the need for orthogonal testing.

Electroencephalographic Abnormalites in SARS-CoV-2 Patients.

Viral infection with SARS-CoV-2 has a neurological tropism that may induce an encephalopathy. In this context, electroencephalographic exploration (EEG) is indicated as a diagnostic argument correlated with lumbar puncture, biology, and imaging. We performed a retrospective analysis of 42 patients explored by EEG and infected by COVID-19, according to the EEG abnormalities and clinical signs that motivated the examination.

Risk Factors for Severe Acute Respiratory Syndrome Coronavirus 2 Infection in Homeless Shelters in Chicago, Illinois-March-May, 2020.

Background: People experiencing homelessness are at increased risk of coronavirus disease 2019 (COVID-19), but little is known about specific risk factors for infection within homeless shelters.

Methods: We performed widespread severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) polymerase chain reaction testing and collected risk factor information at all homeless shelters in Chicago with at least 1 reported case of COVID-19 (n = 21). Multivariable, mixed-effects log-binomial models were built to estimate adjusted prevalence ratios (aPRs) for SARS-CoV-2 infection for both individual- and facility-level risk factors.

Recommended measures for the efficient care of patients with genetic disorders during the COVID-19 pandemic in low and middle income countries.

The coronavirus disease 2019 (COVID-19) emerged in early 2020 and since, has brought about tremendous cost to economies and healthcare systems universally. Reports of pediatric patients with inherited conditions and COVID-19 infections are emerging. Specific risks for morbidity and mortality that this pandemic carries for different categories of genetic disorders are still mostly unknown.

Effect of valine on myotube insulin sensitivity and metabolism with and without insulin resistance.

Population data have consistently demonstrated a correlation between circulating branched-chain amino acids (BCAA) and insulin resistance. Most recently valine catabolite, 3-hydroxyisobutyrate, has emerged as a potential cause of BCAA-mediated insulin resistance; however, it is unclear if valine independently promotes insulin resistance. It is also unclear if excess valine influences the ability of cells to degrade BCAA.

Video-triggered professional learning for general practice trainers: using the 'cauldron of practice' to explore teaching and learning.

Many clinicians who take on a formal role of supervising or teaching trainees need to be taught how to teach and then continuously improve as educators. We describe the research-informed design of a novel professional development intervention that may be perceived by clinical educators as challenging, but being based on the key features of effective professional development is likely to lead to changes in their teaching practices. The video-club brings together a small group of clinical educators who have a shared interest in exploring their educator role and their teaching practices.

Leucine increases mitochondrial metabolism and lipid content without altering insulin signaling in myotubes.

Elevated circulating branched-chain amino acids (BCAA) such as leucine have been consistently correlated with increasing severity of insulin resistance across numerous populations. BCAA may promote insulin resistance through either mTOR-mediated suppression of insulin receptor substrate-1 or through the accumulation of toxic BCAA catabolites. Although the link between circulating BCAA and insulin resistance has been consistent, it has yet to be concluded if BCAA causally contribute to the development or worsening of insulin resistance.