Search results for " atrophy"
showing 10 items of 209 documents
Inactivity-induced oxidative stress: A central role in age-related sarcopenia?
2012
Ageing causes a progressive decline in skeletal muscle mass that may lead to decreased strength and functionality. The term sarcopenia is especially used to characterise this geriatric syndrome. Numerous conditions and behaviours are considered to accelerate the progression of sarcopenia such as chronic diseases, malnutrition and physical inactivity. As people in modern countries are more and more sedentary, the impact of physical inactivity on the prevalence of sarcopenia might be more and more important in the future. In this review, we discuss how reactive oxygen species (ROS) could mediate the effects of lifelong inactivity in the onset and progression of age-related sarcopenia. Althoug…
Prevalence of Spinal Muscular Atrophy in the Era of Disease-Modifying Therapies: An Italian Nationwide Survey.
2022
ObjectiveSpinal muscular atrophy (SMA) is a neurodegenerative disorder caused by mutations in the SMN1 gene. The aim of this study was to assess the prevalence of SMA and treatment prescription in Italy.MethodsAn online survey was distributed to 36 centers identified by the Italian government as referral centers for SMA. Data on the number of patients with SMA subdivided according to age, type,SMN2copy number, and treatment were collected.ResultsOne thousand two hundred fifty-five patients with SMA are currently followed in the Italian centers with an estimated prevalence of 2.12/100,000. Of the 1,255, 284 were type I, 470 type II, 467 type III, and 15 type IV with estimated prevalence of 0…
Decreased motor unit firing rate and force control in older men
2006
Introduction Ageing is related to muscle atrophy that leads to decreases in muscle force. The largest changes are found in fast muscle fibres and fast force production, reducing the capability to recover from sudden balance disturbances. Also ageing-related decrease in force control has been found, as indicated by an increase in force fluctuations and motor unit (MU) firing variability (Galganski et al. 1993). Possibly due to differences in measurement protocols and muscles, the results concerning the effects of ageing on motor unit firing rate are, however, somewhat contradictory (for review, see Roos et al. 1997). The purpose of the present study was to investigate the age-related changes…
Redox regulation of E3 ubiquitin ligases and their role in skeletal muscle atrophy
2015
Muscle atrophy is linked to reactive oxygen species (ROS) production during hindlimb-unloading due, at least in part, to the activation of xanthine oxidase (XO). The major aim of our study was to determine the mechanism by which ROS cause muscle atrophy and its possible prevention by allopurinol, a well-known inhibitor of XO widely used in clinical practice, and indomethacin, a nonsteroidal anti-inflammatory drug. We studied the activation of p38 MAP Kinase and NF-?B pathways, and the expression of two E3 ubiquitin ligases involved in proteolysis, the Muscle atrophy F-Box (MAFb) and Muscle RING Finger-1 (MuRF-1). Male Wistar rats (3 mold) conditioned by 14 days of hindlimb unloading (n=18),…
Phenotypic spectrum and incidence of TRPV4 mutations in patients with inherited axonal neuropathy.
2014
Objective: To clarify the phenotypic spectrum and incidence of TRPV4 mutations in patients with inherited axonal neuropathies. Methods: We screened for TRPV4 mutations in 169 French unrelated patients with inherited axonal peripheral neuropathy. Ninety-five patients had dominant Charcot-Marie-Tooth type 2 (CMT2) disease, and 74 patients, including 39 patients with distal hereditary motor neuropathy, 14 with congenital spinal muscular atrophy and arthrogryposis, 13 with CMT2, and 8 with scapuloperoneal spinal muscular atrophy, presented with additional vocal cord paralysis and/or skeletal dysplasia. Results: No deleterious TRPV4 mutation was identified in the 95 patients with “pure” CMT2 (0/…
Langzeitverlauf 10 Jahre nach transpupillarer Thermotherapie (TTT) kleiner, posteriorer maligner Aderhautmelanome
2011
Background The aim of this study was to evaluate the long-term results of transpupillary thermotherapy (TTT) for small malignant choroidal melanomas. Patients and methods In the time period 1/1998 to 10/1999 in a prospective non-randomised analysis 26 eyes with small malignant melanomas (located posterior to the equator with base ≤ 12 and thickness ≤ 4.5 mm) were primary treated with the TTT standard protocol (follow-up over a time span of at least 10 years). Results Thirteen women and thirteen men (mean age: 64 years) underwent TTT. The mean preoperative tumour thickness was 2.45 mm (0.8 - 4.5 mm). Ten years postoperatively tumour regression without recurrence after 1.4 treatment sessions …
A Spinal Muscular Atrophy Reporter System for in vivo Drug Discovery in Drosophila melanogaster
2018
Fondo La Atrofia Muscular Espinal es un desorden neuromuscular raro y fatal causado por la pérdida o reducción en los niveles de proteína de la Neurona Motor de Supervivencia (SMN). Los individuos afectados tienen el gen SMN1 mutado y la copia SMN2 específica de humanos no afectada, que se traduce solo parcialmente en una proteína SMN funcional. La activación farmacológica de la inclusión del exón 7 de SMN2 por moléculas pequeñas o oligonucleótidos antisentido modificados es un enfoque prometedor para tratar la SMA. Obtener nuevos compuestos potencialmente terapéuticos para los ensayos clínicos es un proceso largo y costoso. El enfoque de reposicionamiento de medicamentos puede reducir el t…
Dexamethasone Inhibits the Pro-Angiogenic Potential of Primary Human Myoblasts
2021
Tissue regeneration depends on the complex processes of angiogenesis, inflammation and wound healing. Regarding muscle tissue, glucocorticoids (GCs) inhibit pro-inflammatory signalling and angiogenesis and lead to muscle atrophy. Our hypothesis is that the synthetic GC dexamethasone (dex) impairs angiogenesis leading to muscle atrophy or inhibited muscle regeneration. Therefore, this study aims to elucidate the effect of dexamethasone on HUVECs under different conditions in mono- and co-culture with myoblasts to evaluate growth behavior and dex impact with regard to muscle atrophy and muscle regeneration. Viability assays, qPCR, immunofluorescence as well as ELISAs were performed on HUVECs,…
Nusinersen in adult patients with 5q spinal muscular atrophy: a multicenter observational cohorts’ study
2021
ABSTRACTObjectiveTo assess safety and efficacy of nusinersen in adult 5q spinal muscular atrophy (SMA) patients.MethodsPatients older than 15 years and followed at least for 6 months with one motor scale (Hammersmith Functional Motor Scale Expanded, HFMSE; Revised Upper Limb module, RULM) in five referral centers were included. Clinical and patients’ global impression of change (CGI-C and PGI-C) were recorded in treated patients at the last visit. Functional scales (Egen Klassification, EK2; Revised Amyotrophic Lateral Sclerosis Functional Rating Scale, ALSFRS-R) and the percent-predicted forced vital capacity were collected when available.ResultsSeventy-nine SMA patients (39 treated with n…
Su un caso di sindrome di Wolfram
2011
To aim of this paper was to offer a further contribution to the knowledge af the Wolfram Syndrome within the Italian population about hypotheses of its genetic trasmission and diagnostic problems.The study comprised the genetic investigation and the clinical ophthalmological examination of all the family members. Genetic investigation of family members showed the presence of a genetic disorder,consisting in a mutation of the gene wfs1, located on the short arm of chromosome 4, and which codifies for the protein Wolfranin. The gene wfs1 presents high penetrance and expression,since the mutation is recessive, it can only be clinicallly detected when it is present in the homozygous form. It sh…