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Total 132 results found since Jan 2013.

The composition of cellular infiltrates in anti‐HMG‐CoA reductase‐associated myopathy
Conclusion: In addition to necrosis, scattered CD4+, CD8+, and PD cells are characteristic of anti‐HMGCR myopathy. Predominant M2 polarization suggests infiltrating macrophages are more likely to be involved with tissue repair than destruction. This article is protected by copyright. All rights reserved.
Source: Muscle and Nerve - March 3, 2015 Category: Internal Medicine Authors: Tae Chung, Lisa Christopher‐Stine, Julie J. Paik, Andrea Corse, Andrew L. Mammen Tags: Research Article Source Type: research

G.P.45: Therapy of the dynamin 2-linked centronuclear myopathy by mRNA repair using Spliceosome-Mediated RNA Trans-splicing (SMarT) strategy
The autosomal dominant centronuclear myopathy (AD-CNM) is a rare congenital myopathy defined by skeletal muscle weakness and characteristic histopathological changes. Heterozygous mutations in the DNM2 gene are associated with entire clinical spectrum of AD-CNM. DNM2 gene encodes dynamin 2 (DNM2), a large GTPase ubiquitously expressed and involved in membrane trafficking. A Knock-In mouse model (KI-Dnm2R465W) expressing the most frequent mutation found in patients has been recently developed in the laboratory. The heterozygous mice progressively develop a muscle phenotype which recapitulates many aspects of the human condi...
Source: Neuromuscular Disorders - September 4, 2014 Category: Neurology Authors: D. Trochet, B. Prudhon, A. Jollet, M. Bitoun Source Type: research

G.P.148: FHL1 mutations are causing familial aortic and other arterial aneurysms with scapuloperoneal myopathy
Familial aortic and other arterial aneurysms have been associated with Marfan syndrome, usually related to mutation in FBN1, and mutations in TGFBR1, TGFBR2, ACTA2, MYH11, and SMAD3. FHL1 mutations have been associated with various disorders that include reducing body myopathy (RBM), Emery–Dreifuss-like muscular dystrophy, isolated hypertrophic cardiomyopathy, and some overlapping conditions. So far no aortic diseases have been reported in these patients. Here we report a German family with a scapuloperoneal myopathy and aortic and other arterial aneurysms in two patients. Patient 1 had an aneurysm of the sinus of Valsal...
Source: Neuromuscular Disorders - September 4, 2014 Category: Neurology Authors: J. Schessl, W. Kress, S. Feldkirchner, B. Schoser Source Type: research

Tanshinol Alleviates Osteoporosis and Myopathy in Glucocorticoid-Treated Rats
In this study, we aimed to investigate whether tanshinol has potential therapeutic effects against glucocorticoid-induced osteoporosis and glucocorticoid-induced myopathy. Ninety-six female Sprague-Dawley rats were randomly assigned to five groups: a control group, a model group, and three model groups treated with 25 or 50 mg/kg of tanshinol, or calcitriol. All model groups received prednisone acetate for 90 days to induce glucocorticoid-induced osteoporosis. Afterwards, all animals underwent a surgical procedure to induce bone defects at the right proximal tibia. Prednisone treatment was stopped after surgery, but tans...
Source: Planta Medica - April 20, 2017 Category: Drugs & Pharmacology Authors: Chen, Guanghua Zhang, Xinle Lin, Han Huang, Guizhi Chen, Yahui Cui, Liao Tags: Original Papers Source Type: research

Large vessel vasculitis: a rare cause of isolated lower limb myopathy
Conclusions A thorough work up led to the diagnosis of polyarteritis nodosa as the cause of this patient’s isolated lower limb myopathy. No literature was found on this rare presentation of vasculitis.
Source: Journal of Neurology, Neurosurgery and Psychiatry - May 8, 2017 Category: Neurosurgery Authors: El-Wahsh, S., Weerasinghe, D., McDougall, A. Tags: Abstracts Source Type: research

Subclinical Cardiomyopathy in Miyoshi Myopathy Detected by Late Gadolinium Enhancement Cardiac Magnetic Resonance Imaging.
We present a case of a patient with MM incidentally diagnosed with concomitant cardiomyopathy. PMID: 33518658 [PubMed - in process]
Source: International Heart Journal - February 2, 2021 Category: Cardiology Tags: Int Heart J Source Type: research

Melatonin: A potential adjuvant therapy for septic myopathy
Biomed Pharmacother. 2023 Feb;158:114209. doi: 10.1016/j.biopha.2022.114209. Epub 2023 Jan 4.ABSTRACTSeptic myopathy, also known as ICU acquired weakness (ICU-AW), is a characteristic clinical symptom of patients with sepsis, mainly manifested as skeletal muscle weakness and muscular atrophy, which affects the respiratory and motor systems of patients, reduces the quality of life, and even threatens the survival of patients. Melatonin is one of the hormones secreted by the pineal gland. Previous studies have found that melatonin has anti-inflammatory, free radical scavenging, antioxidant stress, autophagic lysosome regulat...
Source: Biomedicine and pharmacotherapy = Biomedecine and pharmacotherapie - March 14, 2023 Category: Drugs & Pharmacology Authors: Yukun Liu Dongfang Wang Tianyu Li Ligang Xu Zhanfei Li Xiangjun Bai Manli Tang Yuchang Wang Source Type: research

Xin‐deficient mice display myopathy, impaired contractility, attenuated muscle repair and altered satellite cell functionality
ConclusionXin deficiency leads to a myopathic condition characterized by increased muscle fatigability, impaired regeneration and SC dysfunction.This article is protected by copyright. All rights reserved.
Source: Acta Physiologica - January 14, 2015 Category: Physiology Authors: Dhuha Al‐Sajee, Aliyah A. Nissar, Samantha K. Coleman, Irena A. Rebalka, Albert Chiang, Rafae Wathra, Peter F. M. Ven, Zacharias Orfanos, Thomas J. Hawke Tags: Regular Paper Source Type: research

Inactivation of Pif1 helicase causes a mitochondrial myopathy in mice
Publication date: Available online 24 February 2016 Source:Mitochondrion Author(s): Sylvie Bannwarth, Laetitia Berg-Alonso, Gaëlle Augé, Konstantina Fragaki, Jill E. Kolesar, Françoise Lespinasse, Sandra Lacas-Gervais, Fanny Burel-Vandenbos, Elodie Villa, Frances Belmonte, Jean-François Michiels, Jean-Ehrland Ricci, Romain Gherardi, Lea Harrington, Brett A. Kaufman, Véronique Paquis-Flucklinger Mutations in genes coding for mitochondrial helicases such as TWINKLE and DNA2 are involved in mitochondrial myopathies with mtDNA instability in both human and mouse. We show that inactivation of Pif1, a thir...
Source: Mitochondrion - March 3, 2016 Category: Biochemistry Source Type: research

Mechanism of Hydrogen Sulfide Preconditioning-Associated Protection Against Ischemia-Reperfusion Injury Differs in Diabetic Heart That Develops Myopathy.
Abstract Hydrogen sulfide (H2S) is reported to be effective in the management of the myocardial ischemia-reperfusion (I/R) injury via PI3K/GSK3β pathway in normal rats. However, its efficacy against I/R in the presence of diabetic cardiomyopathy is relatively obscure. Thus, the present work aimed to find out H2S-mediated cardioprotection against I/R in diabetic cardiomyopathy and to evaluate its mode of action using Langendorff isolated heart perfusion system. The present work includes three groups of rat, viz. (i) normal, (ii) diabetes mellitus (DM: streptozotocin: 35 mg/kg; normal diet), and (iii) diabetes +...
Source: Cardiovascular Toxicology - July 16, 2019 Category: Cardiology Authors: Ansari M, Kurian GA Tags: Cardiovasc Toxicol Source Type: research

The accumulation of muscle RING finger-1 in regenerating myofibers: Implications for muscle repair in immune-mediated necrotizing myopathy
ConclusionsMuRF-1 accumulated in regenerating myofibers, which may contribute to muscle injury repair in IMNM and DM. MuRF-1 staining may help clinicians differentiate IMNM and dysferlinopathy.
Source: Frontiers in Neurology - November 24, 2022 Category: Neurology Source Type: research

P.9.3 Repair of mutant nebulin transcripts by exon exchange
The nebulin gene (NEB) has 183 exons encoding transcripts up to 26kb in length. Mutations found in NEB are dispersed throughout the gene. Mutations cause autosomal recessive nemaline myopathy, distal myopathy and core-rod myopathy, for which no therapy is available. The size of NEB limits the options of gene therapy development. Thus, our research has focused on methods correcting the mutation carrying transcripts. The exon exchange method can be developed to exchange a mutated exon by spliceosome mediated RNA trans-splicing occurring between the target pre-mRNA and a carefully designed therapy molecule, PTM (Pre-Trans-spl...
Source: Neuromuscular Disorders - September 7, 2013 Category: Neurology Authors: J. Laitila, J.J. Dowling, K. Pelin Source Type: research

GSE207593 Effect of depletion of the gne gene in Zebrafish
Contributors : Hagay Livne ; Alon Daya ; Shmuel Ruppo ; Stella Mitrani-RosenbaumSeries Type : Expression profiling by high throughput sequencingOrganism : Danio rerioGNE Myopathy is a rare, recessively inherited neuromuscular worldwide disorder, caused by a spectrum of bi-allelic mutations in the human GNE gene. GNE encodes a bi-functional enzyme responsible for the rate-limiting step of sialic acid biosynthesis pathway. However, the process in which GNE mutations lead to the development of a muscle pathology is not clear yet. Cellular and mouse models for GNE Myopathy established to date have not been informative. Further...
Source: GEO: Gene Expression Omnibus - October 26, 2022 Category: Genetics & Stem Cells Tags: Expression profiling by high throughput sequencing Danio rerio Source Type: research