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284 results for “Muscle disease”
Alterations in RNA editing in skeletal muscle following exercise training in individuals with Parkinson's disease
<p>Parkinson’s Disease (PD) is the second most common neurodegenerative disease behind Alzheimer’s Disease, currently affecting more than 10 million people worldwide. The progression of PD results in the loss of function due to neurodegeneration and neuroinflammation. The etiology of PD is multifactorial, including both genetic and environmental origins. We explored changes in RNA editing, specifically editing through the actions of the Adenosine Deaminases Acting on RNA (ADARs), in the progression of PD. Analysis of ADAR editing of skeletal muscle transcriptomes from PD patients and controls, including those that engaged in a rehabilitative exercise training program revealed significant differences in ADAR editing patterns based on age, disease status, and following rehabilitative exercise. Further, deleterious editing events in protein coding regions were identified in multiple genes with known associations to PD pathogenesis. Our findings of differential ADAR editing complement findings of changes in transcriptional network identified by a recent Lavin et al. 2020 (<a href="https://doi.org/10.3389/fphys.2020.00653">https://doi.org/10.3389/fphys.2020.00653)</a> study and offer insights into dynamic ADAR editing changes associated with PD pathogenesis. VCF files were generated using AIDD (Plonski et al., 2020) (<a href="https://doi.org/10.1186/s12859-020-03888-6">https://doi.org/10.1186/s12859-020-03888-6</a>).</p>
Warburg effect characterizes the skeletal muscle in Fabry Disease: experimental evidence and clinical implications
<p>Skeletal muscle (SM) pain and fatigue are common in Fabry disease (FD), and strongly impact the patient’s quality of life. Still, the SM in FD is poorly investigated. Although energetic alterations are reported in cells from FD patients, they have never been related to fatigue and pain. Given the pivotal relevance of energetics for SM health, we undertook the investigation of the SM. We consistently observed a reduced tolerance to aerobic activity and lactate accumulation in FD-humanized mouse model and patients. Accordingly, in sedentary mouse FD SM we detected an increase in fast/glycolytic-fibers, mirrored by an upregulation of glycolytic enzymes and glucose-transporters. In fibroblasts derived from FD patients, we confirmed a high glycolytic-rate and accordingly, metabolomic/lipidomic-analysis revealed that lipids are underutilized as energetic fuel in FD-patients. In the quest for a tentative mechanism, we explored analogies with genetic myopathies, that show altered expression of energetic metabolism. Specifically, we explored HIF-1 upregulation and found it increased in FD mice and patients. From a screening of miRNAs associated with metabolic stress, we found the significant upregulation of miR-17, which has been previously associated with HIF-1 up-regulation. A specific antagomir targeting miR-17 was able to inhibit HIF-1 accumulation and revert metabolic-remodeling in FD-cells. Our findings unveil an anaerobic glycolytic-switch under normoxia, known as Warburg Effect, which is induced by miR-17-mediated-upregulation of HIF-1. The miR-17/HIF-1 pathway can be a new therapeutic target in FD, and Exercise-testing and blood lactate may become a new diagnostic and monitoring-tool in FD.</p>
Association of fat-to-muscle ratio with non-alcoholic fatty liver disease: a single-centre retrospective study
<p><strong>Objectives</strong>: Sarcopenia is a known risk factor for non-alcoholic fatty liver disease (NAFLD). Studies evaluating the association between the fat-to-muscle ratio (FMR) and NAFLD are limited. Therefore, the aim of our study was to investigate the association between FMR and NAFLD.</p> <p><strong>Design:</strong> A retrospective study was conducted on the individuals who underwent health examination in Wuhan Union Hospital between January 2020 and November 2021. Clinical data were collected from electronic medical records.</p> <p><strong>Setting:</strong> Our study was conducted in a hospital in China.</p> <p><strong>Participants:</strong> A total of 1,592 participants aged ≥40 years who underwent body composition analysis and liver ultrasonography were retrospectively reviewed.</p> <p><strong>Primary outcome measures:</strong> Liver ultrasonography was used to assess liver steatosis, and the Fibrosis-4 Index (FIB-4) was used to calculate the risk scores for liver fibrosis. The 10-year atherosclerotic cardiovascular disease (ASCVD) risk prediction model was used to calculate ASCVD risk scores.</p> <p><strong>Results:</strong> The FMR was significantly higher in individuals with NAFLD than in those without NAFLD (P<0.001). The prevalence of NAFLD gradually increased from FMR tertile 1 (reference) to tertile 2 (OR=1.49, 95% CI: 1.13–1.97) and tertile 3 (OR=2.85, 95% CI: 2.08–3.90). In addition, patients with NAFLD in FMR tertile 3 had a significantly higher risk of liver fibrosis (OR=4.48, 95% CI: 2.12–9.50) and ASCVD (OR=4.63, 95% CI: 2.62–8.19) than those in FMR tertile 1 after adjustment for multiple confounders.</p> <p><strong>Conclusion:</strong> In this study, we found a significant association between FMR and NAFLD. A higher FMR indicates a higher risk of NAFLD in the study population and a higher risk of liver fibrosis and ASCVD in NAFLD patients.</p>
Exploratory Muscle Biopsy Assessment Study in Patients With Late-Onset Pompe Disease Treated With Alglucosidase Alfa
ClinicalTrials.gov study NCT01288027. IPD Sharing: Not stated. Countries: 4. Publications: 1.
High-intensity Inspiratory Muscle Training as a Pre-cardiac Rehabilitation in Heart Disease
ClinicalTrials.gov study NCT06127147. IPD Sharing: NO. Countries: 1. Publications: 10.
Inspiratory Muscle Strength Training in Chronic Kidney Disease
ClinicalTrials.gov study NCT04911491. IPD Sharing: YES. Countries: 1. Publications: 2.
Effectiveness of Inspiratory Muscle Training for People With Ischemic Heart Disease Revascularized by Percutaneous Transluminal Coronary Angioplasty.
ClinicalTrials.gov study NCT06681740. IPD Sharing: NO. Countries: 1. Publications: 21.
Creatine Use and Muscle Stretching in Peripheral Artery Disease
ClinicalTrials.gov study NCT04471792. IPD Sharing: NO. Countries: 1. Publications: 2.
Soluble RAGE enhances muscle regeneration after cryoinjury in aged and diseased mice
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Association of fat-to-muscle ratio with non-alcoholic fatty liver disease: a single-centre retrospective study
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Early ultrasonic vocalization deficits and related thyroarytenoid muscle pathology in the transgenic TgF344-AD rat model of Alzheimer’s disease
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Effects of Respiratory Muscle Training and Respiratory Exercise in Exercise Tolerance, Performing Daily Life Activities and Quality of Life of Patients With Chronic Obstructive Pulmonary Disease
ClinicalTrials.gov study NCT01510041. IPD Sharing: Not stated. Countries: 1. Publications: 8.
Effects of Inspiratory Muscle Training on Breathing Pattern in Patients With Chronic Obstructive Pulmonary Disease
ClinicalTrials.gov study NCT02186340. IPD Sharing: Not stated. Countries: 1. Publications: 1.
Bladder Complaints in Parkinson's Disease Effectiveness of Pelvic Floor Muscle Exercises and Electrical Stimulation
ClinicalTrials.gov study NCT05814614. IPD Sharing: YES. Countries: 1. Publications: 3.
Congenital Muscle Disease Study of Patient and Family Reported Medical Information
ClinicalTrials.gov study NCT01403402. IPD Sharing: Not stated. Countries: 1. Publications: 14.
Maximal Exercise Capacity, Physical Activity and Respiratory Muscle Strength in Peripheral Artery Disease
ClinicalTrials.gov study NCT03458754. IPD Sharing: NO. Countries: 1. Publications: 6.
Role of Ultrasound in Diagnosis of Muscle Diseases
ClinicalTrials.gov study NCT04233255. IPD Sharing: NO. Countries: 1. Publications: 8.
Whey vs Casein to Combat Post-inflammatory Protein and Muscle Waste in Acute Disease
ClinicalTrials.gov study NCT03319550. IPD Sharing: NO. Countries: 1. Publications: 1.
Natural History of Inflammatory Muscle Diseases
ClinicalTrials.gov study NCT05738824. IPD Sharing: UNDECIDED. Countries: 1. Publications: 6.
Muscle Dysfunction in Patients With Chronic Obstructive Lung Disease (COPD): the Role of Sympathetic Activation
ClinicalTrials.gov study NCT01750489. IPD Sharing: Not stated. Countries: 1. Publications: 1.
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Allen Brain Atlas
Allen Brain Atlas is an Allen Institute collection of brain map atlases, datasets, APIs, and analysis tools covering mouse, human, and non-human primate brain resources.
Annotated Behaviour and Observability Dataset (ABODe)
ABODe is a University of Edinburgh DataShare dataset for behavior classification in group-housed mice using home-cage video, identities, bounding boxes, ground-plate positions, and annotator labels.
DANDI Archive for NWB datasets
DANDI is a BRAIN Initiative archive for publishing and sharing neurophysiology data, including electrophysiology, optophysiology, and behavioral data packaged as NWB and related standards.
International Brain Laboratory public data
The International Brain Laboratory public data releases expose standardized mouse decision-making experiments, including Neuropixels recordings, widefield calcium imaging, behavior, and session metadata accessed through the ONE API.
OpenNeuro
OpenNeuro is a free, open platform for sharing neuroimaging datasets, with public search, dataset pages, and download paths for web, S3, DataLad, and the OpenNeuro CLI.