Search results for "neuromuscular disease"
showing 10 items of 143 documents
M2 Polarized Macrophages and Giant Cells Contribute to Myofibrosis in Neuromuscular Sarcoidosis
2011
The etiopathogenesis of sarcoidosis, a systemic granulomatous disease, still remains obscure. A multitude of organs have been described to be affected in systemic sarcoidosis. Skeletal muscles may also be affected, leading to myalgia and weakness. A workup of the specific immune response with emphasis on the macrophage response is provided herein. Affected muscle tissue from seven patients with systemic sarcoidosis was analyzed and compared with that from seven patients with other myopathies containing macrophagocytic infiltration. Monocytes/macrophages and giant cells in granulomas of muscle tissue from patients with sarcoidosis show a status of alternative activation (M2) based on their e…
Predictors of Ineffective Cough during a Chest Infection in Patients with Stable Amyotrophic Lateral Sclerosis
2007
In patients with neuromuscular diseases, a chest infection is associated with a reduction in respiratory muscle function that may result in decreased cough effectiveness.To determine if a clinical or functional parameter in patients with amyotrophic lateral sclerosis (ALS) in a stable condition could predict spontaneous cough ineffectiveness during a respiratory tract infection.Forty consecutive patients with ALS referred to our Respiratory Care Unit were studied during a one-year follow-up.FEV(1), FVC, FEV(1)/FVC, peak cough flow (PCF), peak velocity time (PVT), maximum inspiratory and expiratory pressures, and bulbar dysfunction evaluation using the Norris scale bulbar subscore (NBS). A t…
Physical activity and motor function in children and adolescents with neuromuscular disorders.
2013
Purpose To determine physical function and activity level in children and adolescents with neuromuscular disorders. Methods Seventeen children and adolescents aged 10 to 18 years with neuromuscular disorders who were ambulatory participated. Physical function was measured using the Hammersmith Motor Ability Scale and the Six-Minute Walk Test. Physical activity (PA) level was measured using the SenseWear Armband activity monitor. Activities were recorded using a questionnaire. Results were compared with previous data published for peers who are healthy and public recommendations. Results Hammersmith Motor Ability Scale scores were lower than normal values. Results of the Six-Minute Walk Test…
Cognitive correlates in amyotrophic lateral sclerosis: a population-based study in Italy.
2014
Background There is less data available regarding the characteristics of cognitive impairment in patients with amyotrophic lateral sclerosis (ALS) in a population-based series. Methodology Patients with ALS incident in Piemonte, Italy, between 2009 and 2011 underwent an extensive neuropsychological battery. Cognitive status was classified as follows: normal cognition, frontotemporal dementia (ALS-FTD), executive cognitive impairment (ALS-ECI), non-executive cognitive impairment (ALS-NECI), behavioural impairment (ALS-Bi), non-classifiable cognitive impairment. We also assessed 127 age-matched and gender-matched controls identified through patients’ general practitioners. Results Out of the …
Infantile postural asymmetry and osteopathic treatment: a randomized therapeutic trial
2005
The aim of this study was to assess the therapeutic efficacy of osteopathic treatment in infants with postural asymmetry. A randomized clinical trial of efficacy with blinded videoscoring was performed. Sixty-one infants with postural asymmetry aged 6 to 12 weeks (mean 9wks) were recruited. Thirty-two infants (18 males, 14 females) with a gestational age of at least 36 weeks were found to be eligible and randomly assigned to the intervention groups, 16 receiving osteopathic treatment and 16 sham therapy. After a treatment period of 4 weeks the outcome was measured using a standardized scale (4-24 points). With sham therapy, five infants improved (at least 3 points), eight infants were uncha…
Late onset of dropped head syndrome following mantle radiation therapy for Hodgkin lymphoma.
2018
Dropped head syndrome (DHS) is a rare condition, characterised by weakness of the cervical paraspinal muscles with sagging of the head. It is usually seen in association with neurological disorders and rarely can follow radiotherapy. We report a case of a 54-year-old man survivor of Hodgkin lymphoma (HL), who developed DHS 28 years after radiotherapy. He was referred to our department due to progressive weakness and atrophy of cervical paraspinal and shoulder girdle musculature. Physical and neurophysiological examination, electromyography and MRI confirmed the diagnosis of DHS. In the following years, there was no progression of symptoms.
Antimicrobial consumption and antimicrobial resistance: A snapshot of an Italian neuromuscular rehabilitation center
2017
The paper presents a snapshot of the incidence of antimicrobial-resistant microorganisms and antimicrobial consumption in an Italian rehabilitation center over a two-year period (2014-2015). Data on microorganism identification and antimicrobial susceptibility testing were obtained from the diagnostic laboratory of the hospital. A set of indicators was assessed, including the incidence density of resistant isolates per 1000 patient-days (IDRI). Data on antimicrobial consumption, semi-annually, obtained from the hospital pharmacy, were expressed as Defined Daily Dose (DDD) per 1000 patient-days. The most frequently isolated microorganism was Klebsiella pneumoniae (19.3%), and a significant i…
Muscle Biopsy; Processing and Evaluation
2014
Muscle biopsy is a diagnostic procedure to recognize myopathological lesions in skeletal muscle. It may be an open surgical procedure or performed by needle biopsy. The muscle biopsy ought to target a myopathologically affected muscle, chosen by clinical features and/or myoimaging. Preparative techniques entail histology, electron microscopy, enzyme histochemistry, and immunohistochemistry, but it is essential to leave additional tissue for possible subsequent biochemical and molecular investigations. The backbone of light microscopic, diagnostic studies is unfixed frozen muscle tissue with cross-sectioned muscle fibers. Correct archiving of biopsied muscle tissue for future diagnostic and …
Mitochondrial defects and neuromuscular degeneration caused by altered expression of Drosophila Gdap1: implications for the Charcot–Marie–Tooth neuro…
2014
One of the genes involved in Charcot-Marie-Tooth (CMT) disease, an inherited peripheral neuropathy, is GDAP1. In this work, we show that there is a true ortholog of this gene in Drosophila, which we have named Gdap1. By up- and down-regulation of Gdap1 in a tissue-specific manner, we show that altering its levels of expression produces changes in mitochondrial size, morphology and distribution, and neuronal and muscular degeneration. Interestingly, muscular degeneration is tissue-autonomous and not dependent on innervation. Metabolic analyses of our experimental genotypes suggest that alterations in oxidative stress are not a primary cause of the neuromuscular degeneration but a long-term c…
Practical application of electron microscopy to neuromuscular diseases.
2013
Concerning individual neuromuscular conditions, electron microscopy may be considered “essential,” “helpful,” or “wasteful.” “Essential” electron microscopy should provide a clear diagnosis, because of the disease specificity of the ultrastructural findings, in particular as to inclusions within muscle fibers, such as cylindrical spirals and reducing bodies. Electron microscopy may be “helpful” in detecting ultrastructural features preceding typical light microscopic findings, for instance, undulating tubules in endothelial cells. Congenital, metabolic, and inflammatory myopathies may often be more easily and more reliably diagnosed by means of the electron microscope. Diagnostically “waste…