Publications by authors named "J L 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: Undernutrition impairs linear growth while restoration of nutritional provisions leads to accelerated growth patterns. However, the composition of the nutrition provided is key to facilitating effective catch-up growth without compromising bone quantity, quality, and long-term health.
Methods: We evaluated the role of a whey protein concentrate enriched in bovine milk exosomes (BMEs) in modulating the proliferative properties of human chondrocytes in vitro and studied how these effects might impact bone quantity and quality measured as longitudinal tibia growth, bone mineral content (BMC) and density (BMD), and trabecular micro-CT parameters in stunted rats during catch-up growth.
Article Synopsis
- * DM1 happens because of a problem with a gene that leads to muscle issues by decreasing a protein called MBNL1. AntimiRs can help increase this protein but need to be made better for human use.
- * The treatment helped improve muscle cell problems and reduced harmful molecules in the cells, showing promise for helping different types of DM1 patients with varying genetic backgrounds.
Article Synopsis
- * Using CRISPR-Cas9, the researchers created a cell line from a DMD patient that mimics the del45-55 mutation, restoring dystrophin expression and improving myogenic properties.
- * The findings suggest that this approach can help develop better cellular models for studying DMD and understanding its underlying factors, which could inform future therapies.