Novel variant alters splicing of in family with features of Loeys-Dietz syndrome.

Loeys-Dietz syndrome (LDS) is a connective tissue disorder representing a wide spectrum of phenotypes, ranging from isolated thoracic aortic aneurysm or dissection to a more severe syndromic presentation with multisystemic involvement. Significant clinical variability has been noted for both related and unrelated individuals with the same pathogenic variant. We report a family of five affected individuals with notable phenotypic variability who appear to have two distinct molecular causes of LDS, one attributable to a missense variant in and the other an intronic variant 6 bp upstream from a splice junction in .

A Warm Environment Reduces Exogenous Glucose Oxidation and Endurance Performance during Cycling with Facing Airflow.

Unlabelled: Exercise in warm environments increases thermal/cardiovascular strain and decreases gastrointestinal (GI) integrity and endurance performance. However, laboratory-based studies have provided little to/no facing airflow, potentially exacerbating these effects, particularly for cycling, where convective cooling may be a major contributor to thermal balance.

Purpose: This study investigated the effect of cycling in a warm vs temperate environment with sufficient facing airflow on exogenous glucose use, performance, and GI responses.

Misaligned hope and conviction in health care.

It is often said that it is important for patients to possess hope that their treatment will be successful. We agree, but a widely appealed to type of hope-hope based on conviction (religious or otherwise), renders this assertion problematic. If conviction-based hope influences patient decisions to undergo medical procedures, then questions are raised about the scope of patient autonomy.

Neurocutaneous Melanocytosis-Associated Hydrocephalus: The Memorial Sloan Kettering Experience from 2001 to 2022.

We report two neurocutaneous melanocytosis (NCM) patients who required ventriculoperitoneal shunt placement and subsequently developed intraperitoneal melanoma. These patients with NCM are at an increased risk for developing NRAS-associated melanomas in the central nervous system, which in turn may lead to symptomatic hydrocephalus requiring cerebrospinal fluid diversion. Due to the rarity of NCM, current knowledge on disease progression and appropriate management is limited.