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 .

Fluvial pools as reach-scale thermal regulators.

Water temperature is a fundamental driver of physical processes, metabolic rates, and habitat availability in fluvial systems. As anthropogenic activities and climate change increase river temperatures and associated thermal stress on aquatic organisms, river restoration has focused on moderating thermal regimes and creating localized cold-water refuges. Restoration of a 2.

Topical Mupirocin Treatment Reduces Interferon and Myeloid Signatures in Cutaneous Lupus Erythematous Lesions Through Targeting of Staphyloccal Species.

Objective: Cutaneous lupus erythematosus (CLE) is an inflammatory skin manifestation of systemic lupus erythematosus. Type I interferons (IFNs) promote inflammatory responses and are elevated in CLE lesions. We recently reported that CLE lesions are frequently colonized with Staphylococcus aureus.

Constitutional Mosaic Pericentromeric Trisomy 8 in a Female Patient With Aplastic Anemia.

Aplastic anemia, characterized by pancytopenia and hypoplastic bone marrow, is associated with various acquired cytogenetic abnormalities, including trisomy 8, in 4%-15% of patients. Constitutional mosaic trisomy 8 notably increases the risks for cytopenia and myeloid malignancies. Duplications near chromosome 8 centromere are associated with developmental delays, autism, and trisomy 8p11.

Experiences of the changing illicit drug supply among racial and ethnic minoritized people in three US states: a qualitative study.

Background: Amidst a national surge in overdose deaths among racial and ethnic minoritized people and people who use stimulants (cocaine or methamphetamines), our objective was to understand how these groups are adapting to a rapidly changing illicit drug supply.

Methods: We conducted semi-structured interviews with 64 people who use drugs and who self-identified as Black, Hispanic, Multiracial, or other Non-White race in three states (Michigan, New Jersey, and Wisconsin). Transcribed interviews were coded thematically.