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.
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.
View Article and Find Full Text PDFIn 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.
View Article and Find Full Text PDFRecent 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.
View Article and Find Full Text PDFMetabolic-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.
View Article and Find Full Text PDFBackground: The need for transvenous lead extraction (TLE) is increasing worldwide. Since the course of the subclavian vein until the junction with the superior vena cava is a frequent place of lead adherences, we aim to assess the safety and efficacy of a short 13Fr bidirectional rotational mechanical sheath as first choice.
Methods And Results: In this multicentric study, 202 carriers of a cardiac implantable electronic device (CIED) undergoing TLE using a short 13 Fr bidirectional rotational mechanical sheath were prospectively enrolled.
The extravascular implantable cardioverter-defibrillator (EV-ICD, Aurora, Medtronic, Minneapolis, MN, USA) has recently been validated as a new device for preventing arrhythmic death with the aim of reducing vascular and mechanical complications of transvenous ICDs and overcoming the limitations of subcutaneous ICDs. A dedicated learning program is required and, in addition to the electrophysiologist, the implantation procedure must be performed with the assistance of an anesthesiologist for general anesthesia induction and, especially in the early stages of training, a cardiothoracic surgeon for assistance during access to the retrosternal space where the lead should be placed. The objective of this case series is to describe the experience at our high-volume hospital where we treated the first 10 patients with the Aurora EV-ICD device over a period of 8 months.
View Article and Find Full Text PDFThe purpose of the present study was to investigate the effects of neuromodulation techniques, including transcranial direct current stimulation, transcranial magnetic stimulation, and deep brain stimulation, on the treatments of nicotine dependence. Specifically, our objective was to assess the existing evidence by conducting an umbrella review of systematic reviews. The quality of the included studies was evaluated using the standardized tools designed to evaluate systematic reviews.
View Article and Find Full Text PDFPurpose: There is a paucity of data on the safety and efficacy of long-term testosterone (T)-based gender-affirming hormone therapy (GAHT) on anthropometric parameters, body composition, and glycolipid metabolism in assigned female at birth (AFAB) persons. The purpose of this study was to provide an updated meta-analysis on this topic.
Methods: We searched PubMed, Scopus, and Cochrane Library for relevant studies.
Study Design: Retrospective study.
Objectives: To check the hypothesis that irisin could mediate systemic metabolic effects of testosterone in men with chronic spinal cord injury (SCI).
Setting: Spinal Unit of the San Raffaele Institute in Sulmona.
Pharmacological management of HDP includes agents supported by extensive evidence ensuring their safety for use. Among those traditionally described in the literature are: alpha-methyldopa, labetalol, and sustained-release nifedipine (NIF-RETARD). These drugs, in addition to being compatible with pregnancy, present additional eligibility criteria.
View Article and Find Full Text PDFBackground: Electrical remodeling has been linked to the progression and recurrence of atrial fibrillation (AF) after catheter ablation (CA). Substrate mapping based solely on a voltage amplitude electrogram (EGM) does not provide a comprehensive understanding of the left atrial (LA) disease. The aim of this study is to assess left atrial spatial entropy (LASE) from voltage maps routinely obtained during AF ablation to further characterize the LA substrate.
View Article and Find Full Text PDFContext: The mechanisms underlying bone fragility and increased fracture risk observed in individuals with type 2 diabetes (T2D) are not yet fully elucidated. Previous research has suggested a role for neuropeptides in regulating bone metabolism; however, the contribution of the neuropeptide Neurotensin (NT), which is thoroughly implicated in T2D and cardiovascular disease, has not been investigated in this context.
Objective: To study the relationship between circulating levels of the NT precursor proneurotensin (proNT) and bone mineralisation in T2D women.
Background: Osteoporosis and metabolic syndrome (MetS) are conditions associated with ageing and chronic inflammation; among MetS' components, visceral obesity has been correlated to low bone mineral density in postmenopausal women. However, data on an increased fracture risk in MetS are still contrasting. The trabecular bone score (TBS) is an indicator of bone quality and a potential predictive factor for fractures.
View Article and Find Full Text PDFBackground And Objective: Left bundle branch area pacing (LBBAP) is increasingly used for treating bradycardia and heart failure. However, real-world data are limited. The Conduction-System Pacing Italian Network Group (C-SING) collected prospective data on LBBAP procedures in a nationwide context.
View Article and Find Full Text PDFThe historical restriction of magnetic resonance imaging (MRI) for patients with cardiac implantable electronic devices (CIEDs) has been lifted by certified MRI-conditional systems in recent years. Mixed-brand CIED systems consisting of a generator from one manufacturer and at least one lead from another manufacturer are not certified for MRI. We evaluated the temporal trend in the prevalence of mixed-brand systems in the era of MRI-conditional systems.
View Article and Find Full Text PDFPediatric adrenocortical tumors (ACTs), rare conditions with uncertain prognoses, have high incidence in southern and southeastern Brazil. Pediatric ACTs are highly heterogeneous, so establishing prognostic markers for these tumors is challenging. We have conducted transcriptomic analysis on 14 pediatric ACT samples and compared cases with favorable and unfavorable clinical outcomes to identify prognostically significant genes.
View Article and Find Full Text PDFTransgender and gender diverse individuals experience a gender identity that differs from the sex assigned at birth. Some transgender men may request testosterone to induce virilization; however, its impact on bone health remains to be fully elucidated. The objective of this systematic review and meta-analysis was to evaluate the modifications in bone metabolism over a short-term period among transgender men initiating testosterone therapy.
View Article and Find Full Text PDFMol Cell Endocrinol
December 2024
Pediatric adrenocortical tumors (ACT) are rare aggressive neoplasms with heterogeneous prognosis. MicroRNA (miRNA) signatures have been associated with cancer diagnosis, treatment response, and outcomes of several types of cancer. However, the role played by miRNAs in pediatric ACT has been poorly explored.
View Article and Find Full Text PDFCoronary artery disease (CAD) is the leading global cause of mortality, accounting for approximately 30% of all deaths. It is primarily characterized by the accumulation of atherosclerotic plaques within the coronary arteries, leading to reduced blood flow to the heart muscle. Early detection of atherosclerotic plaques is crucial to prevent major adverse cardiac events.
View Article and Find Full Text PDFEmerging drug candidates more often fall in the beyond-rule-of-five chemical space. Among them, proteolysis targeting chimeras (PROTACs) have gained great attention in the past decade. Although physicochemical properties of small molecules accomplishing Lipinski's rule-of-five can now be easily predicted through models generated by large data collections, for PROTACs the knowledge is still limited and heterogeneous, hampering their prediction.
View Article and Find Full Text PDFIntroduction: the work aims to observe the associations between psychoactive substance use and gambling and executive functioning as well as to validate the Italian version of the "Adult Executive Functioning Inventory" (ADEXI) scale.
Methods: data were collected through a representative cross-sectional study among 5,160 people (18-84 years old) called IPSAD (). Structural Equation Modeling (SEM) was performed to explore the associations between ADEXI and other behaviors measured with standardized questionnaires.
The present study explores the modifications of cardiovascular autonomic control (CAC) during wake and sleep time and the systemic inflammatory profile associated with exposure to indoor air pollution (IAP) in a cohort of healthy subjects. Twenty healthy volunteers were enrolled. Indoor levels of fine particulate matter (PM), nitrogen dioxide (NO) and volatile organic compounds (VOCs) were monitored using a portable detector for 7 days.
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