Search results for "Duchenne"
showing 10 items of 60 documents
Autism spectrum disorders in children affected by Duchenne muscular dystrophy
2018
Background Duchenne muscular dystrophy (DMD) is the most frequent and severe form of the dystrophinopathies. The literature shows that about 30-40% of DMD subjects have intellectual disability. In males with Duchenne muscular dystrophy, neuropsychiatric disorders have also been observed: attention deficit disorder and hyperactivity, autism spectrum disorders, and obsessive-compulsive disorder. Duchenne muscular dystrophy is not just a muscle disorder, but also a disease that affects the brain. The aim of the present study was to describe a case series of children with Duchenne muscular dystrophy that have also the presence of autism spectrum disorders (ASDs). They have been assessed by mean…
Beneficial Role of Exercise in the Modulation of
2021
Duchenne muscular dystrophy (DMD) is an X-linked recessive progressive lethal disorder caused by the lack of dystrophin, which determines myofibers mechanical instability, oxidative stress, inflammation, and susceptibility to contraction-induced injuries. Unfortunately, at present, there is no efficient therapy for DMD. Beyond several promising gene- and stem cells-based strategies under investigation, physical activity may represent a valid noninvasive therapeutic approach to slow down the progression of the pathology. However, ethical issues, the limited number of studies in humans and the lack of consistency of the investigated training interventions generate loss of consensus regarding …
Effects of muscular dystrophy, exercise and blocking activin receptor IIB ligands on the unfolded protein response and oxidative stress
2016
Protein homeostasis in cells, proteostasis, is maintained through several integrated processes and pathways and its dysregulation may mediate pathology in many diseases including Duchenne muscular dystrophy (DMD). Oxidative stress, heat shock proteins, endoplasmic reticulum (ER) stress and its response, i.e. unfolded protein response (UPR), play key roles in proteostasis but their involvement in the pathology of DMD are largely unknown. Moreover, exercise and activin receptor IIB blocking are two strategies that may be beneficial to DMD muscle, but studies to examine their effects on these proteostasis pathways are lacking. Therefore, these pathways were examined in the muscle of mdx mice, …
Lack of Dystrophin Affects Bronchial Epithelium in mdx Mice
2016
Mild exercise training may positively affect the course of Duchenne Muscular Dystrophy (DMD). Training causes mild bronchial epithelial injury in both humans and mice, but no study assessed the effects of exercise in mdx mice, a well known model of DMD. The airway epithelium was examined in mdx (C57BL/10ScSn-Dmdmdx) mice, and in wild type (WT, C57BL/10ScSc) mice either under sedentary conditions (mdx-SD, WT-SD) or during mild exercise training (mdx-EX, WT-EX). At baseline, and after 30 and 45 days of training (5 d/wk for 6 weeks), epithelial morphology and markers of regeneration, apoptosis, and cellular stress were assessed. The number of goblet cells in bronchial epithelium was much lower…
Autism spectrum disorders in children affected by Duchenne Muscular Dystrophy
2019
Objective Duchenne Muscular Dystrophy (DMD) is a progressive neuromuscular condition that has a high rate of cognitive and learning disabilities as well as neurobehavioral disorders, some of which have ben associated with disruption of dystrophin isoforms. Recent studies have pointed to an increased risk for intellectual disability and autism among affected males.The aim of the present study was to describe a case series of children with DMD that have also the presence of autism spectrum disorders (ASDs). they have been assessed by means of standardized autism scales and the monst appropriate psycho-educational treatment is herein discussed. Methods and Results In order to evaluate and iden…
Recovery of damaged skeletal muscle in mdx mice by low-intensity endurance exercise
2010
TEMPORAL STRUCTURE OF THE MUSCULAR DYSTROPHY X-LINKED MOUSE BEHAVIOUR TESTED IN OPEN FIELD
2017
In comparison with wilde type mice, animal models of Duchenne Muscolar Dystrophy (mdx mice) show a different behavioral organization with a more articulated structure of the temporal patterns. Present study sheds light, for the first time, on specific temporal features of behavior in an animal model of DMD.
Alterations of intestinal transit and fecal output in dystrophic mdx mice.
2009
Proteomic analysis of skeletal muscle in dystrophic (mdx) mice subject to low-intensity endurance exercise
2014
La rigenerazione del muscolo scheletrico in risposta ad un trauma dipende, dal tipo di lesione come contusione, deformazione e lacerazione e della gravità. Molti fattori regolatori svolgono un ruolo importante nella rigenerazione muscolare e uno di loro è l'esercizio fisico. Come l’esercizio fisico influisca sui muscoli dipende sia dalla modalità,dall’ intensità e durata dell’ allenamento e dslle caratteristiche specifiche del muscolo scheletrico in questione. Il primo obiettivo di questo studio è stato esaminare come l’esercizio di resistenza a bassa intensità influisca sul processo di rigenerazione in ratti con danno muscolare di tipo meccanico. I ratti sono stati divisi in tre gruppi: se…