Search results for "neuromuscular disease"
showing 10 items of 143 documents
Sleep-wake disturbances in patients with amyotrophic lateral sclerosis
2011
Objective To evaluate the frequency, severity and determinants of sleep disturbances in patients with amyotrophic lateral sclerosis (ALS). Methods Information about night-time complaints was collected using a standardised questionnaire, the Pittsburgh Sleep Quality Index (PSQI), and the Epworth Sleepiness Scale (ESS) in a group of 100 patients with ALS and in 100 control subjects matched for age and sex. Functional disability was assessed using the ALS Functional Rating Scale-Revised (ALSFRS-R). Sleep was studied by overnight polysomnography in 12 patients. Results Fifty-nine patients with ALS and 36 controls reported sleep disturbances. The mean global PSQI score of patients with ALS was s…
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…
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 =…
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…
Psychopathological and emotional deficits in myotonic dystrophy
1998
OBJECTIVE—To evaluate psychopathological disturbances in patients with myotonic dystrophy (MD) and compare patients with MD to both patients with facioscapulohumeral dystrophy (FSHD) and healthy control subjects. METHODS—A semistructured interview was used to determine DSM III-R criteria for major depressive episodes, dysthymic episodes, and generalised anxiety. The Montgomery and Asberg and the Hamilton depressive scales, the Covi and Tyrer anxiety scales, the Abrams and Taylor scale for emotional blunting, and the depressive mood scale were all used in the study. Subjects were also asked to complete questionnaires for physical and social anhedonia. RESULTS—Fifteen patients with MD, 11 pat…
Feasibility and psychometric properties of the Finnish version of the measure of processes of care for adults
2018
To assess the psychometric properties and feasibility of the Finnish translation of the measure of processes of care for adults (MPOC-A) when used in an inpatient rehabilitation setting.A feasibility study.Inpatient rehabilitation settings.A total of 858 people with severe neurological disabilities, musculoskeletal problems, and mental disorders were recruited to the study.The MPOC-A questionnaire is a self-administered questionnaire consisting of 34 items in five-factorial domains. The construct validity of the translated questionnaire was evaluated using confirmatory factor analysis. To compare the fit of the model to the fit of the independent null-model Comparative Fit Index was used. I…
Fetal akinesia caused by a novel actin filament aggregate myopathy skeletal muscle actin gene (ACTA1) mutation.
2010
We report a female newborn, diagnosed with fetal akinesia in utero, who died one hour after birth. Post-mortem muscle biopsy demonstrated actin-filament myopathy based on immunolabelling for sarcomeric actin, and large areas of filaments, without rod formation, ultrastructurally. Analysis of DNA extracted from the muscle disclosed a novel de novo heterozygous c.44G>A, GGC>GAC, 'p.Gly15Asp' mutation in the ACTA1 gene. Analysis of the location of the mutated amino-acid in the actin molecule suggests the mutation most likely causes abnormal nucleotide binding, and consequent pathological actin polymerization. This case emphasizes the association of fetal akinesia with actin-filament myopathy.
A quantitative study of the pancuronium antagonism at the motor endplate in human organophosphorus intoxication
1995
Nine patients with organophosphorus (OP) intoxication developing neuromuscular transmission defects were given pancuronium 1, 2, or 4 mg intravenously (IV). Thirteen patient controls with hypoxic encephalopathy received similar dosages. The responses were monitored electrophysiologically using single and repetitive nerve stimulation (20 and 50 Hz). In OP patients, pancuronium did not alter the amplitude of the single CMAP, whereas its repetitive discharges were reduced. Severe neuromuscular blocks were reversed only partially by pancuronium 4 mg. In less severe blocks, 1 and 2 mg resulted in marked improvement. In the patient controls, pancuronium 4 mg induced a severe neuromuscular block b…