Genomic ascertainment to quantify prevalence and cancer risk in adults with pathogenic and likely pathogenic germline variants in RASopathy genes.

Purpose: Genomic ascertainment of electronic health record-linked exome data in two large biobanks was used to quantify germline pathogenic/likely pathogenic (P/LP) variant prevalence, cancer prevalence, and survival in adults with non- RAS/mitogen-activated protein kinase genes (RASopathies).

Patients And Methods: Germline RASopathy variants were examined from adult participants in UK Biobank (UKBB; n=469,802), Geisinger MyCode (n=167,050) and Mount Sinai Bio (n=30,470). Variants were classified as per American College of Medical Genetics/Association for Molecular Pathology criteria and reviewed by a RASopathy variant expert.

Reliability of running gait variability measures calculated from inertial measurement units.

Changes to the variability within biomechanical signals may reflect a change in the health of the human system. However, for running gait variability measures calculated from wearable device data, it is unknown whether a between-day difference reflects a shift in system dynamics reflective of a change in human health or is a result of poor between-day reliability of the measurement device or the biomechanical signal. This study investigated the reliability of stride time and sacral acceleration variability measures calculated from inertial measurement units (IMUs).

Replicability of Strength Domains in Australian Rules Football Athletes.

Geneau, MC, Carey, DL, Gastin, PB, Robertson, S, and James, LP. Replicability of strength domains in Australian rules football athletes. J Strength Cond Res XX(X): 000-000, 2024-Maximal lower body strength is a multidimensional construct defined as the maximum force application under specific task constraints.

Genetic inactivation of zinc transporter SLC39A5 improves liver function and hyperglycemia in obesogenic settings.

Recent studies have revealed a role for zinc in insulin secretion and glucose homeostasis. Randomized placebo-controlled zinc supplementation trials have demonstrated improved glycemic traits in patients with type II diabetes (T2D). Moreover, rare loss-of-function variants in the zinc efflux transporter reduce T2D risk.