Two unique BAP1 pathogenic variants identified in the same family by panel cascade testing.

Germline pathogenic variants in the tumor suppressor gene BAP1 are associated with the hereditary tumor predisposition syndrome with susceptibility to uveal melanoma, mesothelioma, cutaneous melanoma, renal cell carcinoma, and other cancers. Germline BAP1 pathogenic variants are rare in the non-cancer general population with an estimated carrier frequency of 1:19,898 but more common in cancer patients with a carrier frequency of 1:1299. In the following we present the first report of a family with two unique BAP1 pathogenic variants.

Definite orthogonal modular forms: computations, excursions, and discoveries.

We consider spaces of modular forms attached to definite orthogonal groups of low even rank and nontrivial level, equipped with Hecke operators defined by Kneser neighbours. After reviewing algorithms to compute with these spaces, we investigate endoscopy using theta series and a theorem of Rallis. Along the way, we exhibit many examples and pose several conjectures.

Mechanisms of weakness in Mdx muscle following in vivo eccentric contractions.

Skeletal muscle of the dystrophin-deficient mdx mouse is hypersensitive to eccentric (ECC) contraction-induced strength loss due to plasmalemmal electrical dysfunction. Despite plasmalemmal inexcitability being a logical mechanism responsible for weakness, it remains unclear if processes up- and/or down-stream remain functionally intact in injured mdx muscle. The purpose of this study was to analyze additional processes necessary for excitation-contraction coupling that are potentially disrupted by ECC contractions.

Membrane Proteins Increase with the Repeated Bout Effect.

Purpose: The ability of skeletal muscle to adapt to eccentric (ECC) contraction-induced injury is known as the repeated bout effect (RBE). Despite the RBE being a well-established phenomenon observed in skeletal muscle, cellular and molecular events particularly those at the membranes that contribute to the adaptive potential of muscle have yet to be established. Therefore, the purpose of this study was to examine how membrane-associated proteins respond to the RBE.

Muscle Strength Does Not Adapt From a Second to Third Bout of Eccentric Contractions: A Systematic Review and Meta-Analysis of the Repeated Bout Effect.

Lindsay, A, Abbott, G, Ingalls, CP, and Baumann, CW. Muscle strength does not adapt from a second to third bout of eccentric contractions: A systematic review and meta-analysis of the repeated bout effect. J Strength Cond Res 35(2): 576-584, 2021-The greatest muscle strength adaptations to repeated bouts of eccentric contractions (ECC) occur after the initial injury, with little to no change in subsequent bouts.