Diaphragm ultrasonography in amyotrophic lateral sclerosis: a diagnostic tool to assess ventilatory dysfunction and disease severity

AbstractBackgroundRespiratory failure represents an unavoidable step in patients with amyotrophic lateral sclerosis (ALS) and other motor neuron diseases (MND). The development of diaphragm ultrasonography (DUS) provides an alternative useful and risk-free tool to supply clinical, functional, and neurophysiological assessment of respiratory muscle weakness. Our aim was to evaluate if sonographic changes (thickness and echogenicity in the costal portion of the diaphragm, at rest and during respiratory movements) may be used in ALS patients to assess disease severity over time, to rule out any risk or discomfort due to traditional neurophysiological investigations.MethodsTwenty ALS patients (mean age, 64.6  ± 10.5 years) were enrolled and data were compared with age-matched healthy volunteers; DUS data were correlated with respiratory function and disease severity scale. Examinations were performed using Telemed Echo-wave II or Esaote MyLabGamma devices in conventional B-Mode.ResultsMean resting thickness was reduced in all cases; changes in thickness during inspiration and expiration were also reduced (p 
Source: Neurological Sciences - Category: Neurology Source Type: research

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Abstract Amyotrophic lateral sclerosis (ALS) is a degenerative disorder caused by motor neuron loss. T-cell intracellular antigen-1 (TIA-1), a cytotoxic T lymphocyte granule-associated RNA binding protein, is a key component of stress granules. However, it remains uncertain whether ALS-causing superoxide dismutase-1 (SOD1) toxicity alters the dynamics of stress granules. Thus, through mouse and cell line models, and human cells and tissues, we showed the subcellular location of TIA-1 and its recruitment by stress granules following mutant SOD1-related stimuli. An overexpression of MTSOD1 resulted in increased TIA-...
Source: Neurochemical Research - Category: Neuroscience Authors: Tags: Neurochem Res Source Type: research
In this study, we aimed to determine the relevance of FGF21 pathway stimulation in a male mouse model of ALS (mutatedSOD1-G93A mice) by using a pharmacological agonist of FGF21, R1Mab1. Mice (SOD1-WT and mutant SOD1-G93A) were treated with R1Mab1 or vehicle. Longitudinal data about clinical status (motor function, body weight) and biological parameters (including hormonal, immunological, and metabolomics profiles) were collected from the first symptoms to euthanasia at week 20. Multivariate models were performed to identify the main parameters associated with R1Mab1 treatment and to link them with clinical status, and meta...
Source: Neurotherapeutics - Category: Neurology Source Type: research
This study aims at evaluating the possible role of environmental factors in etiopathogenesis of ALS, with a particular attention on metal contamination, focusing on the industrial Briga area in the province of Novara (Piemonte region, North Italy), characterized by: i) a higher incidence of sporadic ALS (sALS) in comparison with the entire province, and ii) the reported environmental pollution. Environmental data from surface, ground and discharge waters, and from soils were collected and specifically analyzed for metal content. Considering the significance of genetic mechanisms in ALS, a characterization for the main ALS ...
Source: Environmental Research - Category: Environmental Health Authors: Tags: Environ Res Source Type: research
This article reviews the clinical features, diagnostic approach, and treatments available for amyotrophic lateral sclerosis (ALS) and other motor neuron diseases. The article also provides an update on the genetics and pathophysiology of ALS. RECENT FINDINGS ALS remains a clinical diagnosis without a unique biomarker. The areas of greatest progress include a large expansion in the number of genes associated with familial and sporadic ALS. The discovery of these genes, along with other work, has provided a deeper understanding of the mechanisms of motor neuron failure in ALS. Areas of particular interest include the role...
Source: CONTINUUM: Lifelong Learning in Neurology - Category: Neurology Tags: REVIEW ARTICLES Source Type: research
In this study, we show in TAF15‐expressingDrosophila models that Shaggy/GSK3 β inhibition in neuronal cells leads to a reduction in TAF15 levels, and SCFslimb is a critical regulator for Shaggy/GSK3 β‐mediated suppression of TAF15‐induced toxicity inDrosophila. This presents in vivo evidence supporting GSK3 β inhibition as an agent in neuroprotection against TAF15‐linked proteinopathies. AbstractAmyotrophic lateral sclerosis (ALS) is a severe neurodegenerative disorder characterized pathologically by motor neuron degeneration and associated with aggregation of RNA ‐binding proteins. TATA‐binding ...
Source: Journal of Neurochemistry - Category: Neuroscience Authors: Tags: ORIGINAL ARTICLE Source Type: research
AbstractLong non ‐coding RNAs (lncRNAs) are RNAs that exceed 200 nucleotides in length and that are not translated into proteins. Thousands of lncRNAs have been identified with functions in processes such as transcription and translation regulation, RNA processing, and RNA and protein sponging. LncRNAs show promin ent expression in the nervous system and have been implicated in neural development, function and disease. Recent work has begun to report on the expression and roles of lncRNAs in motor neurons (MNs). The cell bodies of MNs are located in cortex, brainstem or spinal cord and their axons project int o the brain...
Source: Journal of Neurochemistry - Category: Neuroscience Authors: Tags: REVIEW Source Type: research
CONCLUSIONS: It is unlikely that magnesium supplementation provides clinically meaningful cramp prophylaxis to older adults experiencing skeletal muscle cramps. In contrast, for those experiencing pregnancy-associated rest cramps the literature is conflicting and further research in this population is needed. We found no RCTs evaluating magnesium for exercise-associated muscle cramps or disease-state-associated muscle cramps (for example amyotrophic lateral sclerosis/motor neuron disease) other than a single small (inconclusive) study in people with liver cirrhosis, only some of whom suffered cramps. PMID: 32956536 [P...
Source: Cochrane Database of Systematic Reviews - Category: General Medicine Authors: Tags: Cochrane Database Syst Rev Source Type: research
We appreciate the criticism raised by Dr. Matsuura questioning the genetic evaluation for NOP56 gene of Asidan (spinocerebellar ataxia 36) showing clinical anticipation. Asidan is an autosomal dominant neurodegenerative disorder caused by a hexanucleotide GGCCTG repeat expansion in intron 1 of the NOP56 gene, showing cerebellar ataxia, motor neuron disease phenotype, hearing loss and frontal cognitive impairment [1 –3]. The NOP56 genetic mutation in Asidan is similar to the hexanucleotide GGGGCC repeat expansion in intron 1 of the C9orf72 gene observed in familial amyotrophic lateral sclerosis/frontotemporal dementia...
Source: Journal of the Neurological Sciences - Category: Neurology Authors: Tags: Letter to the Editor Source Type: research
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Source: Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration - Category: Neurology Authors: Source Type: research
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Source: Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration - Category: Neurology Authors: Source Type: research
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