Structural variation in nebulin and its implications on phenotype and inheritance: establishing a dominant distal phenotype caused by large deletions.

Introduction: Structural variants (SVs) of the nebulin gene ( ), including intragenic duplications, deletions, and copy number variation of the triplicate region, are an established cause of recessively inherited nemaline myopathies and related neuromuscular disorders. Large deletions have been shown to cause dominantly inherited distal myopathies. Here we provide an overview of 35 families with muscle disorders caused by such SVs in .

Complete genome sequence of singleton phage Magritte.

Actinobacteriophage Magritte was isolated from soil in Columbia, TN using as a host. Magritte is a singleton with a siphovirus morphology and a large genome of 133,228 bp encoding 250 predicted genes, including 26 tRNA genes.

Perception of medical care among women living with HIV aged 40 years or older-A European-wide survey.

Objectives: Our objective was to explore how women living with HIV aged ≥40 years perceive their care in relation to their HIV infection, comorbidities, and menopausal health and to evaluate the extent to which the care they receive meets their expectations, comparatively across World Health Organization (WHO) European regions.

Methods: We conducted a cross-sectional survey (May-December 2023) among women living with HIV aged ≥40 years from the WHO European region. Five dimensions of care were assessed: content of care, information, relationship with caregiver, organization of care, and patients' rights and privacy, in addition to management of non-HIV comorbidities and menopause.