Clinical and imaging spectrum of non-congenital dominant ACTN2 myopathy.

Background: Alpha-actinin-2, a protein with high expression in cardiac and skeletal muscle, is located in the Z-disc and plays a key role in sarcomere stability. Mutations in ACTN2 have been associated with both hypertrophic and dilated cardiomyopathy and, more recently, with skeletal myopathy.

Methods: Genetic, clinical, and muscle imaging data were collected from 37 patients with an autosomal dominant ACTN2 myopathy belonging to 11 families from Spain and Belgium.

Variability in the management of GLP-1 agonists and endoscopic procedures: an opportunity for standardization.

Glucagon-like peptide-1 receptor agonists (GLP-1RAs), also known as incretin mimetics, have significantly revolutionized the treatment of type 2 diabetes mellitus (T2DM) and obesity worldwide, far exceeding initial expectations regarding their global prescription. This class of medications has demonstrated weight losses of up to 20 % of baseline body weight. Beyond their proven benefits in T2DM and obesity, GLP-1RAs, as well as dual and triple agonists (GLP-1/GIP/glucagon), are being investigated for their effects on conditions such as metabolic-associated steatotic liver disease, various cardiovascular disorders, neurocognitive impairments, and certain addictions.

A founder variant in the RYR1 gene is associated with hyperCKemia, myalgia and muscle cramps.

Background And Purpose: Pathogenic variants in the RYR1 gene have been associated with a variety of conditions, ranging from congenital myopathy to adult manifestations. Our aim was to characterize the p.Leu2286Val variant in 17 Basque patients, to accurately determine its correlation with clinical features and to explore the possible founder effect of the variant.

Endoscopic sleeve gastroplasty plus lifestyle intervention in patients with MASH: a multicentre, sham-controlled, randomized trial.

Metabolic dysfunction-associated steatohepatitis(MASH) is commonly seen in biopsy proven steatotic liver disease(SLD). Life-style intervention reaching a weight loss higher than 10% promotes MASH resolution, but this goal is only achieved by a small number of patients. Endoscopic sleeve gastroplasty(ESG) has recently emerged as a safe and effective option to promote weight loss in obese population.