Neuromuscular Diseases
Diagnostic support for selected neuromuscular diseases using answer-pattern recognition and data mining techniques: a proof of concept multicenter prospective trial
... muscular diseases characterized by long diagnostic ...different neuromuscular diseases [MP, ALS, and muscular dystrophy (MD)] were performed across Germany between Septem- ber 2011 and February 2012 ...
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Community exercise is feasible for neuromuscular diseases and can improve aerobic capacity
... From Queen Square MRC Centre for Neuromuscular Diseases, Institute of Neurology (A.W., A.P., M.D., P.M.M., M.L., I.S., M.S., M.M.R., M.G.H., G.M.R.), Institute of Sport, Exercise and Health (P.H.), and ...
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ONLINE EMG SIGNAL ANALYSIS FOR DIAGNOSIS OF NEUROMUSCULAR DISEASES BY USING PCA AND PNN
... having neuromuscular disorders provides a valuable diagnostic decision support tool for ...identifying neuromuscular diseases where EMG, muscle biopsy, biochemical and molecular genetics findings, ...
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Maximum inspiratory pressure as a clinically meaningful trial endpoint for neuromuscular diseases: a comprehensive review of the literature
... non-neuromuscular diseases, these values also correlated with improvements in other pulmonary measures, including FVC (as well as airway resistance and MEP) [26, 30, ...
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Brief Communications Mycophenolate mofetil: A safe and promising immunosuppressant in neuromuscular diseases
... Our study of MM use in patients with different neuromuscular diseases showed that the drug is safe and well tolerated. Over two-thirds of the patients with MG showed improvement in functional status or were ...
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Pediatric Neuromuscular Diseases Prevalence in Siriraj Hospital, Thailand's Largest Tertiary Referral Hospital
... congenital neuromuscular diseases, so they don’t seek medical ...inherited neuromuscular diseases in children are not different from previous studies, we can conclude that ethnicity is not an ...
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Characteristics of tongue and pharyngeal pressure in patients with neuromuscular diseases
... with neuromuscular diseases (NMDs) often experience problems with swallow- ing during the course of the ...mon diseases of NMDs which induce dysphagia due to muscle ...
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Quantitative analysis of proteins of metabolism by reverse phase protein microarrays identifies potential biomarkers of rare neuromuscular diseases
... rare diseases Having observed significant differences in the expression of proteins of energy metabolism for a diverse set of rare neuromuscular diseases, we next questioned their poten- tial as ...
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iPSC-derived functional human neuromuscular junctions model the pathophysiology of neuromuscular diseases
... The formation and maintenance of NMJs require complicated reciprocal signals between nerve, muscle, and Schwann cells. Additionally, action potential activity in presynaptic neurons and postsynaptic myotubes can ...
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The TREAT-NMD care and trial site registry: an online registry to facilitate clinical research for neuromuscular diseases
... French UMD-DMD patient registry captures all patients with a mutation in the dystrophin gene detected by any accredited genetic laboratory in France. Therefore, pa- tients with other forms of dystrophinopathies, patients ...
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Systemic MV Gene Therapy Close to Clinical Trials for Several Neuromuscular Diseases
... Dog models have proven invaluable in the development of gene therapies for haemophilia [8] and are likely to prove so for XLMTM, Duchenne muscular dystrophy (DMD), and other neuromuscular disorders. Quite ...
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Assessment of Sleep-Disordered Breathing in Pediatric Neuromuscular Diseases
... In all individuals, there is a relative hypoventilation that occurs during sleep as a result of blunting of the hypoxic and hypercapnic drive to breathe. Therefore, there is a 25% reduction in tidal volume, a rise in ...
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The Pathophysiology of Respiratory Impairment in Pediatric Neuromuscular Diseases
... is occluded for the first 0.2 to 0.3 seconds of inspiration, and the mouth pressure over the first 0.1 second is measured. The pressure generated is considerably lower than the pressures generated over the tidal volume ...
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Expanding genotype/phenotype of neuromuscular diseases by comprehensive target capture/NGS
... 5 neuromuscular disease; PFIS 5 paralytic floppy infant syndrome; SMARD1 5 spinal muscular atrophy with respiratory distress type 1; VUS 5 variants of unknown ...
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Are mice good models for human neuromuscular disease? Comparing muscle excursions in walking between mice and humans
... of neuromuscular diseases and their hu- man counterparts, thereby impeding the translation of successful pre-clinical trials using mouse models to human ...
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Multiple Microaerophilic Streptococcal Lung Abscesses After Orthodontic Treatment
... with orthodontic treatment, physicians should advise pa- tients who are at risk for developing pulmonary infection (eg, patients with neuromuscular diseases which compro- mine cough and/[r] ...
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Nationwide patient registry for GNE myopathy in Japan
... rare diseases are broadly accepted for their usefulness in obtaining epidemiological data and patient recruitment for clinical trials [10] Translational Research in Europe–Assessment and Treatment of ...
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A retrospective analysis of health care utilization for patients with mitochondrial disease in the United States: 2008–2015
... resource utilization for the three neuromuscular diseases in the adult population. Health care resource utilization for MD was lower than ALS, and both were greater than MS. MD costs were comparable with MS ...
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A mitochondrial bioenergetic etiology of disease
... neuromuscular diseases, and the mutant mtDNAs are generally mixed within the cell with normal (wild-type) mtDNAs (hetero- plasmic) (3, 5). As a heteroplasmic cell replicates, the percent- ages of mutant and ...
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The French National Registry of patients with Facioscapulohumeral muscular dystrophy
... neuromuscular diseases; FSHD: Facioscapulohumeral muscular dystrophy; FSHD1: FSHD type 1; FSHD2: FSHD type 2; HPO: Human phenotype ontology; ICECI: International classification of external causes of ...
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