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Multi-omics analysis in inclusion body myositis identifies mir-16 responsible for HLA overexpression.
Orphanet J Rare Dis
January 2025
Department of Human Genetics, Leiden University Medical Center, Leiden, The Netherlands.
Background: Inclusion Body Myositis is an acquired muscle disease. Its pathogenesis is unclear due to the co-existence of inflammation, muscle degeneration and mitochondrial dysfunction. We aimed to provide a more advanced understanding of the disease by combining multi-omics analysis with prior knowledge.
View Article and Find Full Text PDFA rare haplotype of the GJD3 gene segregating in familial Meniere's disease interferes with connexin assembly.
Genome Med
January 2025
Otology & Neurotology Group CTS495, Instituto de Investigación Biosanitario, Ibs.GRANADA, Universidad de Granada, 18071, Granada, Spain.
Background: Familial Meniere's disease (FMD) is a rare polygenic disorder of the inner ear. Mutations in the connexin gene family, which encodes gap junction proteins, can also cause hearing loss, but their role in FMD is largely unknown.
Methods: We retrieved exome sequencing data from 94 individuals in 70 Meniere's disease (MD) families.
Complexity and recurrence of body surface electrocardiograms correlate with estimated reentrant atrial activity using electrocardiographic imaging in atrial fibrillation patients.
BMC Cardiovasc Disord
January 2025
ITACA Institute, Universitat Politècnica de València, València, Spain.
Background: Complexity and signal recurrence metrics obtained from body surface potential mapping (BSPM) allow quantifying atrial fibrillation (AF) substrate complexity. This study aims to correlate electrocardiographic imaging (ECGI) detected reentrant patterns with BSPM-calculated signal complexity and recurrence metrics.
Methods: BSPM signals were recorded from 28 AF patients (17 male, 11 women, 62.
Interobserver and intraobserver variability among different vendors for mitral valve assessment: implications for transcatheter mitral valve repair.
Radiol Med
January 2025
Department of Radiology, Mayo Clinic, 200 First Street SW, Rochester, MN, 55905, USA.
Purpose: Pre-procedural imaging is critical for transcatheter mitral valve repair planning in patients with mitral valve disease. As differences among various measurement techniques for valve evaluation are still poorly understood, we sought to assess the intra- and interobserver agreement of complex measurements derived from a prototype mitral evaluation tool (Siemens) and a commercially available tool (CVI42) using both saddle- and D-shaped mitral annulus techniques.
Materials And Methods: Multiphasic cardiac computed tomography angiography data were loaded into each software.
Beneficial vs harmful effects of pharmacological treatment of patent ductus arteriosus: A Bayesian meta-analysis.
Pediatr Res
January 2025
Department of Pediatrics, Hospital Universitario Materno-Infantil de Canarias, Las Palmas de Gran Canaria, Spain.
Background: Randomized controlled trials (RCTs) have failed to demonstrate the beneficial effects of the pharmacological treatment of patent ductus arteriosus (PDA) in preterm infants. We conducted a Bayesian model averaged (BMA) meta-analysis of RCTs comparing the pharmacological treatment of PDA with placebo or expectant treatment.
Methods: We searched for RCTs including infants with gestational age (GA) ≤ 32 weeks and with a rate of open-label treatment of less than 25% in the control arm.
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