Publications by authors named "R A Vilchez"
Background: Distal myopathies (MPDs) are heterogeneous diseases of complex diagnosis whose prevalence and distribution in specific populations are unknown.
Methods: Demographic, clinical, genetic, neurophysiological, histopathological and muscle imaging characteristics of a MPDs cohort from a neuromuscular reference center were analyzed to study their epidemiology, features, genetic distribution and factors related to diagnosis.
Results: The series included 219 patients (61% were men, 94% Spanish and 41% sporadic cases).
Article Synopsis
- - The study focuses on diagnosing asymptomatic hyperCKemia in pediatric patients using next-generation sequencing (NGS) and other diagnostic tools, as genetic myopathies are often linked to elevated creatine kinase levels.
- - Conducted on 65 patients, the study found that NGS successfully diagnosed 55% of cases, with seven specific genes frequently showing pathogenic variants, while muscle biopsies were crucial for identifying myopathologic features.
- - The research highlighted the effectiveness of EMG in revealing myopathic features in 48% of cases, although some diagnostic challenges remained, with 14% and 29% of diagnoses being inconclusive.
Background And Purpose: Pathogenic variants of the glycyl-tRNA synthetase 1 (GARS1) gene have been described as a cause of Charcot-Marie-Tooth disease type 2D, motor axonal neuropathy with upper limb predominance (distal hereditary motor neuropathy [dHMN] type V), and infantile spinal muscular atrophy.
Methods: This cross-sectional, retrospective, observational study was carried out on 12 patients harboring the c.794C>T (p.
Heart failure (HF) is a disease related to bioenergetic mitochondrial abnormalities. However, the whole status of molecules involved in the oxidative phosphorylation system (OXPHOS) is unknown. Therefore, we analyzed the OXPHOS transcriptome of human cardiac tissue by RNA-seq analyses (mRNA = 36; ncRNA = 30) in HF patients (ischemic cardiomyopathy (ICM) and dilated cardiomyopathy (DCM)) and control subjects.
View Article and Find Full Text PDFSoft pneumatic artificial muscles are a well actuation scheme in soft robotics due to its key features for robotic machines being safe, lightweight, and conformable. In this work, we present a versatile vacuum-powered artificial muscle (VPAM) with manually tunable output motion. We developed an artificial muscle that consists of a stack of air chambers that can use replaceable external reinforcements.
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