Search results for "Muscular Diseases"
showing 10 items of 203 documents
Analysis of F response in upper motoneurone lesions
2009
The F response can provide a measure of motoneurone excitability (MNE) and so it may be used to investigate upper motoneurone disorders. This report studies the F-wave configuration in patients with stroke to evaluate the changes of the central excitability of the motoneurones at different times after an acute cerebral insult. Various parameters of the F response, including amplitude (absolute and F%/M), duration, and persistence have been determined in 26 patients with unilateral hemiplegia and in 32 healthy subjects of both sexes in the same age range. The investigation was carried out applying a series of 20 supramaximal stimuli at 0.5 Hz on tibial and ulnar nerves bilaterally. In all pa…
Repeated muscle biopsies through a single skin incision do not elicit muscle signaling, but IL-6 mRNA and STAT3 phosphorylation increase in injured m…
2011
To determine if muscle biopsies can be repeated using a single small (5–6 mm) skin incision without inducing immediate MAPK activation or inflammation in the noninjured areas, the phosphorylation of ERK1/2, p38-MAPK, c-Jun NH2-terminal kinases (JNKs), IκBα, IKKα, and signal transducer and activator of transcription 3 (STAT3) was examined concurrent with IL-6 mRNA in six muscle biopsies obtained from the vastus lateralis of five men. Four biopsies were obtained through the same incision (5–6 mm) from the right leg (taken at 0, 30, 123, and 126 min) and another two each from new incisions performed in the left leg (at 31 and 120 min), while the subjects rested supine. The first three biopsie…
Alternatives to Endotracheal Intubation for Patients with Neuromuscular Diseases
2005
To evaluate the usefulness of continuous noninvasive mechanical ventilation and mechanical coughing aids to avoid endotracheal intubation and tracheostomy during episodes of acute respiratory failure in patients with neuromuscular disease.We conducted a prospective cohort study at the respiratory medicine ward of a university hospital to study the success rate of the use of continuous noninvasive mechanical ventilation and manually and mechanically (CoughAssist) assisted coughing to avert endotracheal intubation in 24 consecutive episodes of acute respiratory failure for 17 patients with neuromuscular disease. The noninvasive mechanical ventilation and coughing aids were used to reverse dec…
Neuromuscular electrophysiological disorders and muscle atrophy in mechanically-ventilated traumatic brain injury patients: New insights from a prosp…
2018
International audience; Erratum inCorrigendum to "Neuromuscular electrophysiological disorders and muscle atrophy in mechanically-ventilated traumatic brain injury patients: New insights from a prospective observational study" [J Crit Care 44 (2018) 87-94]. [J Crit Care. 2019]AbstractPURPOSE:It is unclear whether the muscular changes in mechanically-ventilated traumatic brain injury patients (TBI) are only associated with disuse or additionally to neuromuscular electrophysiological disorders (NED). The correlation between muscle atrophy and NED may affect functional outcomes and rehabilitation programs significantly.MATERIAL AND METHODS:An observational study was performed to investigate th…
Clinical, histological and genetic characterization of reducing body myopathy caused by mutations in FHL1
2008
We recently identified the X-chromosomal four and a half LIM domain gene FHL1 as the causative gene for reducing body myopathy, a disorder characterized by progressive weakness and intracytoplasmic aggregates in muscle that exert reducing activity on menadione nitro-blue-tetrazolium (NBT). The mutations detected in FHL1 affected highly conserved zinc coordinating residues within the second LIM domain and lead to the formation of aggregates when transfected into cells. Our aim was to define the clinical and morphological phenotype of this myopathy and to assess the mutational spectrum of FHL1 mutations in reducing body myopathy in a larger cohort of patients. Patients were ascertained via th…
Comparison of Peak Cough Flows Measured by Pneumotachograph and a Portable Peak Flow Meter
2004
To compare peak cough flows (PCF) obtained with a pneumotachograph (PCFp) with those measured using a portable peak flow meter (PCFm) in a population of healthy subjects and patients with neuromuscular disease.A total of 30 healthy subjects and 32 medically stable patients with neuromuscular diseases were studied. Using an oronasal mask connected, in a randomized order, to a pneumotachograph and to a portable peak flow meter, PCFp and PCFm were measured as every subject performed maximal cough efforts from total lung capacity.PCFp measurements were 377.70 +/-179.28 liters/min and PCFm measurements were 377.50 +/- 172.98 liters/min (not significant). The two measurements were correlated (r =…
Mutations in the skeletal muscle alpha-actin gene in patients with actin myopathy and nemaline myopathy
1999
Muscle contraction results from the force generated between the thin filament protein actin and the thick filament protein myosin, which causes the thick and thin muscle filaments to slide past each other. There are skeletal muscle, cardiac muscle, smooth muscle and non-muscle isoforms of both actin and myosin. Inherited diseases in humans have been associated with defects in cardiac actin (dilated cardiomyopathy and hypertrophic cardiomyopathy), cardiac myosin (hypertrophic cardiomyopathy) and non-muscle myosin (deafness). Here we report that mutations in the human skeletal muscle alpha-actin gene (ACTA1) are associated with two different muscle diseases, 'congenital myopathy with excess o…
Phosphomannosyl receptors of lysosomal enzymes of skeletal muscle in neuromuscular diseases.
1988
The phosphomannosyl receptor system is responsible for both the receptor-mediated endocytosis and the intracellular transport of lysosomal enzymes. In the present study this receptor system was examined in affected muscles of patients with various neuromuscular diseases. The total activity of beta-N-acetyl-glucosaminidase, a marker enzyme of lysosomal hydrolases, was significantly elevated in the patients with myopathies (polymyositis and muscular dystrophies) but only slightly increased in those with neurogenic muscle atrophies (amyotrophic lateral sclerosis, polyneuropathy or other neurogenic muscle disease). The increase was most prominent in the group of polymyositis. The content of pho…
Significant reduction of physical activity in patients with neuromuscular disease during COVID-19 pandemic: the long-term consequences of quarantine
2020
Abstract Background Quarantine was the measure taken by governments to control the rapid spread of COVID-19. This restriction resulted in a sudden change in people’s lifestyle, leading to an increase in sedentary behavior and a related decrease in the practice of physical activity (PA). However, in neuromuscular diseases patients need to perform regular PA to counteract the negative consequences of the disease. Hence, the aim of this study was to estimate the levels of PA, measured as energy expenditure (MET–minute/week), among patients with neuromuscular disease (NMD) before and during the last week of quarantine. Methods A total of 268 Italian subjects, living in Sicily, completed an adap…
Effects of 12-wk eccentric calf muscle training on muscle-tendon glucose uptake and SEMG in patients with chronic Achilles tendon pain
2014
High-load eccentric exercises have been a key component in the conservative management of chronic Achilles tendinopathy. This study investigated the effects of a 12-wk progressive, home-based eccentric rehabilitation program on ankle plantar flexors' glucose uptake (GU) and myoelectric activity and Achilles tendon GU. A longitudinal study design with control ( n = 10) and patient ( n = 10) groups was used. Surface electromyography (SEMG) from four ankle plantar flexors and GU from the same muscles and the Achilles tendon were measured during submaximal intermittent isometric plantar flexion task. The results indicated that the symptomatic leg was weaker ( P < 0.05) than the asymptomatic…