: Unveiling the Function of a Novel Gene Associated with Hereditary Myopathy.

Unlabelled: was identified as a novel candidate gene for autosomal dominant centronuclear myopathy-4 (CNM4) approximately ten years ago. However, to date, only one family has been described, and the function of CCDC78 remains unclear. Here, we analyze for the first time a family harboring a nonsense mutation to better understand the role of CCDC78 in muscle.

Urinary Free Glycosaminoglycans Identify Adults at High Risk of Developing Early-stage High-grade Bladder Cancer.

Background And Objective: Screening for bladder cancer (BCa) could reduce mortality via early detection of early-stage high-grade (Ta/T1 N0 M0 grade 2-3) disease. Noninvasive biomarkers could aid in screening, but current markers lack the specificity required. The urinary free glycosaminoglycan profile (GAGome) is a promising biomarker for early detection of BCa metabolism.

Multiorgan manifestations of COL4A1 and COL4A2 variants and proposal for a clinical management protocol.

COL4A1/2 variants are associated with highly variable multiorgan manifestations. Depicting the whole clinical spectrum of COL4A1/2-related manifestations is challenging, and there is no consensus on management and preventative strategies. Based on a systematic review of current evidence on COL4A1/2-related disease, we developed a clinical questionnaire that we administered to 43 individuals from 23 distinct families carrying pathogenic variants.

Chondroitin sulfate from heads of corb: Recovery, structural analysis and assessment of anticoagulant activity.

In this study, glycosaminoglycans (GAGs) were extracted from corb (Sciaena umbra) heads and thoroughly examined for their structure. Through cellulose acetate electrophoresis, the GAGs were identified as chondroitin sulfate (CS), with a recovery yield of 10.35 %.