Search results for "Dystrophy"

Abnormal Lipopigments and Lysosomal Residual Bodies in Metachromatic Leukodystrophy

1990

Ultrastructurally, metachromatic leukodystrophy (MLD) is marked by characteristic features such as herringbone, prismatic and tufaceous patterns which are typically encountered within oligodendrocytes of the central nervous system (CNS) and in Schwann cells (PNS). These patterns can be documented in late infantile, juvenile, and adult forms. In the latter, aging of the ailing individual adds another component, the accumulation of lipopigments which are marked by an opaque supposedly lipid droplet and a granular component. While MLD-specific lysosomal residual bodies occur in myelinforming cells, lipopigments accrue in neurons and to a lesser degree in astrocytes. MLD represents a unique exa…

No effect of low-intensity endurance exercise on muscle necrosis in the diaphragm of mdx mice.

2014

Duchenne muscular dystrophy (DMD) is characterized by progressive skeletal muscle weakness. We have previously shown that low-intensity endurance training prevented muscle damage (Frinchi et al, Int J Sports Med 2014). Since the effects of low-intensity endurance training on the the diaphragm in the mdx mouse model are unknown, in the same animals we investigated C x39 protein levels (Western blotting) in homogenates of the diaphragm before and after training. Mdx and wild-type (WT) mice were randomly assigned to sedentary (mdx-S, n=17; WT-S, n=19) or trained (mdx-EX, n=14; WT-EX, n=16) groups. Low-intensity endurance training (running on a wheel) was done 5 days/week for 6 weeks at progres…

Modulation of peroxisomes abundance by argan oil and lipopolysaccharides in acyl-CoA oxidase 1-deficient fibroblasts

2013

Pseudo-neonatal adrenoleukodystrophy (P-NALD) is a neurodegenerative disorder caused by acyl-CoA oxidase 1 (ACOX1) deficiency with subsequent impairment of peroxisomal fatty acid β-oxidation, accumulation of very long chain fatty acids (VLCFAs) and strong reduction in peroxisome abundance. Increase in peroxisome number has been previously suggested to improve peroxisomal disorders, and in this perspective, the present work was aimed at exploring whether modulation of peroxisomes abundance could be achieved in P-NALD fibroblasts. Here we showed that treatment with the natural Argan oil induced peroxisome proliferation in P-NALD fibroblasts. This induction was independent on activations of bo…

Increased autophagy and apoptosis contribute to muscle atrophy in a myotonic dystrophy type 1 Drosophila model

2015

ABSTRACT Muscle mass wasting is one of the most debilitating symptoms of myotonic dystrophy type 1 (DM1) disease, ultimately leading to immobility, respiratory defects, dysarthria, dysphagia and death in advanced stages of the disease. In order to study the molecular mechanisms leading to the degenerative loss of adult muscle tissue in DM1, we generated an inducible Drosophila model of expanded CTG trinucleotide repeat toxicity that resembles an adult-onset form of the disease. Heat-shock induced expression of 480 CUG repeats in adult flies resulted in a reduction in the area of the indirect flight muscles. In these model flies, reduction of muscle area was concomitant with increased apopto…

Effects of low intensity endurance training on small airways of MDX mice

2009

Data from: Noninvasive assessment of respiratory muscle strength and activity in Myotonic dystrophy

2018

Objective To evaluate sensitivity/specificity of the maximum relaxation rate (MRR) of inspiratory muscles, amplitude of electromyographic activity of the sternocleidomastoid (SCM), scalene (SCA), parasternal (2ndIS) and rectus abdominis (RA) muscles; lung function and respiratory muscle strength in subjects with Myotonic dystrophy type 1 (DM1) compared with healthy subjects. Design and methods Quasi-experimental observational study with control group. MRR of inspiratory muscles, lung function and amplitude of the electromyographic activity of SCM, SCA, 2ndIS and RA muscles during maximum inspiratory pressure (PImax), maximum expiratory pressure (PEmax) and sniff nasal inspiratory pressure (…

Body composition with dual energy X-ray absorptiometry: from basics to new tools

2020

Dual-energy X-ray absorptiometry (DXA) in nowadays considered one of the most versatile imaging techniques for the evaluation of metabolic bone disorders such as osteoporosis, sarcopenia and obesity. The advantages of DXA over other imaging techniques are the very low radiation dose, its accuracy and simplicity of use. In addition, fat mass (FM) and lean mass (LM) values by DXA shows very good accuracy compared to that of computed tomography and magnetic resonance imaging. In this review we will explain the technical working principles of body composition with DXA, together with the possible limitations and pitfalls that should be avoided in daily routine to produce high-quality DXA examina…

Update on the effects of graded motor imagery and mirror therapy on complex regional pain syndrome type 1: A systematic review.

2017

Graded motor imagery (GMI) and mirror therapy (MT) is thought to improve pain in patients with complex regional pain syndrome (CRPS) types 1 and 2. However, the evidence is limited and analysis are not independent between types of CRPS. The purpose of this review was to analyze the effects of GMI and MT on pain in independent groups of patients with CRPS types 1 and 2. Searches for literature published between 1990 and 2016 were conducted in databases. Randomized controlled trials that compared GMI or MT with other treatments for CRPS types 1 and 2 were included. Six articles met the inclusion criteria and were classified from moderate to high quality. The total sample was composed of 171 p…

Considerations to the policy of future clinical therapeutic trials in DMD.

2002

In spite of rapidly increasing insight into the molecular basis of neuromuscular diseases, treatment still relies on convention and clinical studies. Experience with a multicentre double blind treatment study in Duchenne muscular dystrophy and with consecutive steroid treatment documentation for up to 8 years enables us to identify a series of crucial points on which to focus while planning such clinical trials. The most important seem to be: a carefully structured, detailed study, clear-cut aims and objectives, expertise of investigators, sufficient training of examiners, and careful monitoring. If patients with neuromuscular diseases are treated outside structured studies, their course sh…

Muscle adenylate kinase in Duchenne muscular dystrophy

1986

Abstract On the basis of electrophoretic and enzyme inhibition studies it was postulated that an aberrant adenylate kinase occurs in muscle and serum of patients with Duchenne muscular dystrophy (Schirmer, R.H. and Thuma, E. (1972) Biochim. Biophys. Acta 268, 92–97; Hamada, M. et al. (1981) Biochim. Biophys. Acta 660, 227–237; Hamada et al. (1985) J. Biol. Chem. 260, 11595–11602. On the basis of the following results we conclude that Duchenne muscular dystrophy patients do not possess an unusual adenylate kinase isoenzyme. (1) In muscle biopsies from five Duchenne patients, the electrophoretic mobility of adenylate kinase and the inhibition of the enzyme by P 1 , P 5 -di(adenosine-5′)pentap…