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Missense variants at the p.Arg225 residue in ARHGEF40 identified in individuals with multiple congenital anomalies and developmental delay.
HGG Adv
January 2025
GeneDx LLC, Gaithersburg, Maryland, 20877.
The ARHGEF40 gene, also known as SOLO, encodes a RhoA-targeting guanine nucleotide exchange factor (GEF) and is currently considered a candidate gene with a potential relationship to disease. Our laboratory has confirmed variants at position p.Arg225 of the ARHGEF40 protein in multiple unrelated individuals with a phenotype including dysmorphic features, congenital anomalies and neurodevelopmental abnormalities.
View Article and Find Full Text PDFGender composition in the work environment and physicians' income from Medicare Part B fee-for-service payments: evidence from longitudinal data.
Hum Resour Health
December 2024
The Association of American Medical Colleges, 655 K St. NW, Washington, DC, 20001, USA.
Background: Despite the rising representation of women in the physician workforce, gender-based income disparities persist. In this study, we explore the role of representation of women in the work environment in physicians' income from Medicare Part B fee-for-service payments and the income gender gap.
Methods: Our main analytic sample is a balanced panel of 371,472 physicians over 9 years, obtained from the Medicare Part B fee-for-service (FFS) Provider Utilization and Payment Data (2012-2020) from the Centers for Medicare and Medicaid Services (CMS).
Investigating heart rate responses of children to active travel: a mixed effects modeling analysis.
BMC Public Health
November 2024
Institute of Transport Studies, University of Natural Resources and Life Sciences, Peter-Jordan-Str. 82, Vienna, 1190, Austria.
Article Synopsis
- The study explores how active travel impacts children's heart rates, demonstrating that modes of active travel are linked to increased physiological responses.
- The research involved 73 children from three schools in Austria, utilizing a mixed survey design over a 7-day observation period.
- Results indicate that feelings of exhaustion and stress raise heart rates, while social factors, such as traveling alone or with peers, also affect physiological responses.
Promoting Mental Health and Well-Being Among Adolescent Young Carers in Europe: A Cross-National Randomized Controlled Trial Study.
Healthcare (Basel)
October 2024
Department of Health and Caring Sciences, Linnaeus University, SE-39182 Kalmar, Sweden.
Background/objectives: This cross-national study focuses on adolescents who provide care and support to family members or significant others. Current evidence regarding their mental health and solutions to strengthen it is limited and mostly available in a few countries. The aim of this study is to evaluate the results of a primary prevention intervention for improving the mental health and well-being of adolescent young carers (AYCs) aged 15-17 years in six European countries.
View Article and Find Full Text PDFBenchmarking nanopore sequencing and rapid genomics feasibility: validation at a quaternary hospital in New Zealand.
NPJ Genom Med
November 2024
Liggins Institute, The University of Auckland, Auckland, New Zealand.
Approximately 200 critically ill infants and children in New Zealand are in high-dependency care, many suspected of having genetic conditions, requiring scalable genomic testing. We adopted an acute care genomics protocol from an accredited laboratory and established a clinical pipeline using Oxford Nanopore Technologies PromethION 2 solo system and Fabric GEM™ software. Benchmarking of the pipeline was performed using Global Alliance for Genomics and Health benchmarking tools and Genome in a Bottle samples (HG002-HG007).
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