Identification and functional analysis of novel homozygous LMF1 variants in severe hypertriglyceridemia.

Background: The genetic basis of hypertriglyceridemia (HTG) is complex and includes variants in Lipase Maturation Factor 1 (LMF1), an endoplasmic reticulum (ER)-chaperone involved in the post-translational activation of lipoprotein lipase (LPL).

Objective: The objective of this study was to identify and functionally characterize biallelic LMF1 variants in patients with HTG.

Methods: Genomic DNA sequencing was used to identify biallelic LMF1 variants in HTG patients without deleterious variants in LPL, apolipoprotein C-II (APOC2), glycosylphosphatidylinositol-anchored high-density lipoprotein binding protein 1 (GPIHBP1) or apolipoprotein A-V (APOA5).

Less Talk More Chalk: A Retrospective Review of Rock Climbing-Related Trauma.

Introduction Climbing is a strength and strategy-driven sport that has greatly increased in popularity over the last decade, partially due to its debut in the Tokyo 2020 Summer Olympics. With an increasing number of new climbers and the emergence of recreational indoor climbing facilities, fall injury risk remains a legitimate concern within the climbing community. This study evaluates the pattern of injury in trauma patients presenting to the Desert Regional Medical Center, a level 1 trauma center in Palm Springs, CA, following falls from height while rock climbing.