Optimized workflow for paroxysmal atrial fibrillation ablation using very high power short duration.

Background: wide antral pulmonary vein isolation (PVI) is effective for treating paroxysmal atrial fibrillation (PAF), although time-demanding. We investigated the impact of a standardized ablation protocol by using a bidirectional transeptal steerable sheath, high-density mapping and very high-power-short-duration (vHPSD) catheters on procedure timing, efficacy, and safety.

Methods: consecutive PAF patients free from previous ablations undergoing PVI alone between January 2022 and March 2023 were prospectively enrolled.

Expanding the mutational spectrum of ReNU syndrome: insights into 5' Stem-loop variants.

A narrow spectrum of heterozygous variants in RNU4-2, encoding the small nuclear RNA (snRNA) U4, underlies ReNU syndrome, a neurodevelopmental disorder (NDD) characterized by moderate to severe developmental delay (DD), intellectual disability (ID), a distinctive facial gestalt, and multisystem involvement. Pathogenic variants have primarily been reported within an 18-nt critical region contributing to stabilizing the U4/U6 snRNA duplex and proper spliceosome assembly. By combining whole genome sequencing reanalysis and targeted direct sequencing in 190 molecularly unexplained NDD cases, we report on five affected individuals carrying pathogenic/putative pathogenic RNU4-2 variants (2.

CDK13-Related Disorder: Novel Insights From A Series of 27 Cases and Recommendations for Clinical Management.

In 2016, Sifrim and colleagues described the first group of patients carrying heterozygous pathogenic variants in CDK13 and sharing major clinical features mainly consisting of congenital heart defects, intellectual disability and peculiar facial features (Congenital Heart Defects, Dysmorphic Facial Features, and Intellectual Developmental Disorder; CHDFIDD, OMIM # 617360). This condition is generally referred to as CDK13-related disorder, and since then other reports have provided further clinical and molecular information. Here we describe a group of 27 previously unreported patients to more accurately profile the clinical spectrum associated with CDK13 variants, disclosing novel associated findings, such as complex craniosynostosis and variable skeletal features (e.

West Nile virus non-structural protein 1 promotes amyloid Beta deposition and neurodegeneration.

Recent observations highlight a notable surge in West Nile Virus (WNV) infections in Europe that can lead to neuroinvasive consequences associated with neurodegeneration, mainly triggered by WNV Non-Structural protein 1 (NS1). During viral replication, various protein-protein interactions take place, allowing viral proteins to interact with host factors. NS1 is actively secreted in the bloodstream by infected cells and is known to affect endothelial permeability and host immune response.

Association Between Active DNA Demethylation and Liver Fibrosis in Individuals with Metabolic-Associated Steatotic Liver Disease (MASLD).

Metabolic-associated steatotic liver disease (MASLD) represents the most common chronic hepatopathy worldwide and an independent risk factor for cardiovascular disease and mortality, particularly when liver fibrosis occurs. Epigenetic alterations, such as DNA methylation, may influence MASLD susceptibility and progression; yet mechanisms underlying this process are limited. This study aimed to investigate whether active DNA demethylation in peripheral blood mononuclear cells (PBMCs) from individuals with MASLD, alongside the methylation and mRNA levels of inflammation- and fibrosis-related candidate genes, is associated with liver fibrosis.