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Total 11221 results found since Jan 2013.
Efficacy confirmation study of aceneuramic acid administration for GNE myopathy in Japan
A rare muscle disease, GNE myopathy is caused by mutations in the GNE gene involved in sialic acid biosynthesis. Our recent phase II/III study has indicated that oral administration of aceneuramic acid to patient...
Source: Orphanet Journal of Rare Diseases - August 11, 2023 Category: Internal Medicine Authors: Madoka Mori-Yoshimura, Naoki Suzuki, Masahisa Katsuno, Masanori P. Takahashi, Satoshi Yamashita, Yasushi Oya, Atsushi Hashizume, Shinichiro Yamada, Masayuki Nakamori, Rumiko Izumi, Masaaki Kato, Hitoshi Warita, Maki Tateyama, Hiroshi Kuroda, Ryuta Asada, Tags: Research Source Type: research
GSE235571 Loss of Mtm1 causes cholestatic liver disease in a model of X-linked myotubular myopathy
Contributors : Ashish R Deshwar ; Sophie Karolczak ; James J Dowling ; Chunyue Yin ; Jillian EllisSeries Type : Expression profiling by high throughput sequencingOrganism : Danio rerioX-linked myotubular myopathy (XLMTM) is a fatal congenital disorder caused by mutations in the MTM1 gene. Currently, there are no approved treatments, though AAV8-mediated gene transfer therapy has shown promise in animal models and preliminarily in patients. However, four patients with XLMTM treated with gene therapy have died from progressive liver failure, and hepatobiliary disease has now been recognized more broadly in association with X...
Source: GEO: Gene Expression Omnibus - August 10, 2023 Category: Genetics & Stem Cells Tags: Expression profiling by high throughput sequencing Danio rerio Source Type: research
A Call for Increased Focus on Fractures in Congenital Myopathy Infants
Source: Indian Journal of Pediatrics - August 10, 2023 Category: Pediatrics Source Type: research
A novel in-frame deletion in MYOT causes an early adult onset distal myopathy
We describe a family carrying a heterozygous MYOT deletion (Tyr4_His9del) that clinically was characterized by an early-adult onset distal muscle weakness and pathologically by a myofibrillar myopathy (MFM). Molecular modeling of the full-length myotilin protein revealed that the 4-YERPKH-9 amino acids are involved in local interactions within the N-terminal portion of myotilin. Injection of in vitro synthetized mutated human MYOT RNA or of plasmid carrying its cDNA sequence in zebrafish embryos led to muscle defects characterized by sarcomeric disorganization of muscle fibers and widening of the I-band, and severe motor i...
Source: Clinical Genetics - August 8, 2023 Category: Genetics & Stem Cells Authors: Valeria Guglielmi Elia Pancheri Elena Cannone Vincenzo Nigro Manuela Malatesta Andrea Vettori Alejandro Giorgetti Annalaura Torella Stefania Aurino Barbara Cisterna Giulia Marchetto Giuliano Tomelleri Paola Tonin Marco Schiavone Gaetano Vattemi Source Type: research
Decreased dystrophin expression and elevated dystrophin-targeting miRNAs in anti-HMGCR immune-mediated necrotizing myopathy
Source: Acta Neuropathologica - August 5, 2023 Category: Neurology Source Type: research
The utility and tolerability of ultrasound guided muscle biopsy in the investigation of myopathy: a follow-up study
ConclusionThis follow-up study reinforces the conclusion of its predecessor by highlighting that ultrasound guided percutaneous muscle biopsy is a useful and tolerable adjunct to the traditional surgical technique in investigating muscle disorders.
Source: Journal of Ultrasound - August 4, 2023 Category: Radiology Source Type: research
Association between self-reported race and ethnicity and myositis-specific autoantibodies in a diverse cohort of patients with inflammatory myopathy
AbstractMyositis-specific autoantibodies (MSAs) are highly specific biomarkers for idiopathic inflammatory myopathies (IIMs). We investigated whether self-reported race and ethnicity were associated with the presence of specific MSAs. Charts of patients with IIM seen at 3 large healthcare systems in the same US city were reviewed. Demographic data and MSA test results were abstracted. Associations between race and ethnicity and presence of MSAs were analyzed using bivariate analysis and further characterized using separate unadjusted and adjusted logistic regression models. One hundred twenty-one subjects were included (19...
Source: Clinical Rheumatology - August 4, 2023 Category: Rheumatology Source Type: research
Value of the HFA-PEFF diagnostic algorithms for heart failure with preserved ejection fraction to the inflammatory myopathy population
The HFA-PEFF score has been validated to hold great diagnostic and prognostic utility for heart failure with preserved ejection fraction (HFpEF). Idiopathic inflammatory myopathy (IIM) is recognized as one of ...
Source: Arthritis Research and Therapy - August 4, 2023 Category: Rheumatology Authors: Yunjing Shi, Hao Zhang, Zeping Qiu, Yanjia Chen, Xiuxiu Su, Huihui Chi, Tienan Feng, Yue Sun, Honglei Liu, Xiaobing Cheng, Junna Ye, Hui Shi, Qiongyi Hu, Zhuochao Zhou, Jianfen Meng, Jialin Teng & hellip; Tags: Research Source Type: research
The utility and tolerability of ultrasound guided muscle biopsy in the investigation of myopathy: a follow-up study
ConclusionThis follow-up study reinforces the conclusion of its predecessor by highlighting that ultrasound guided percutaneous muscle biopsy is a useful and tolerable adjunct to the traditional surgical technique in investigating muscle disorders.
Source: Journal of Ultrasound - August 4, 2023 Category: Radiology Source Type: research
Association between self-reported race and ethnicity and myositis-specific autoantibodies in a diverse cohort of patients with inflammatory myopathy
AbstractMyositis-specific autoantibodies (MSAs) are highly specific biomarkers for idiopathic inflammatory myopathies (IIMs). We investigated whether self-reported race and ethnicity were associated with the presence of specific MSAs. Charts of patients with IIM seen at 3 large healthcare systems in the same US city were reviewed. Demographic data and MSA test results were abstracted. Associations between race and ethnicity and presence of MSAs were analyzed using bivariate analysis and further characterized using separate unadjusted and adjusted logistic regression models. One hundred twenty-one subjects were included (19...
Source: Clinical Rheumatology - August 4, 2023 Category: Rheumatology Source Type: research
Skeletal muscle cell protein dysregulation highlights the pathogenesis mechanism of myopathy-associated p97/VCP R155H mutations
p97/VCP, a hexametric member of the AAA-ATPase superfamily, has been associated with a wide range of cellular protein pathways, such as proteasomal degradation, the unfolding of polyubiquitinated proteins, and autophagosome maturation. Autosomal dominant p97/VCP mutations cause a rare hereditary multisystem disorder called IBMPFD/ALS (Inclusion Body Myopathy with Paget’s Disease and Frontotemporal Dementia/Amyotrophic Lateral Sclerosis), characterized by progressive weakness and subsequent atrophy of skeletal muscles, and impacting bones and brains, such as Parkinson’s disease, Lewy body disease, Huntington’s disease...
Source: Frontiers in Neurology - August 3, 2023 Category: Neurology Source Type: research
Increased serum soluble interleukin-2 receptor levels in dermatomyositis are associated with Th17/Treg immune imbalance
This study highlights the potential utility of serum sIL-2R levels as a valuable biomarker for assessing disease activity and liver involvement in dermatomyositis. Elevated serum concentrations of sIL-2R were observed in patients with DM, exhibiting significant associations with Th17 cell populations and Th17/ Treg ratios. These findings indicate that sIL-2R may be implicated in the immunopathogenesis of DM, thereby warranting further investigation to elucidate its role in the disease process.
Source: Clinical and Experimental Medicine - August 2, 2023 Category: Research Source Type: research
Cell-free DNA as an potential marker of statin induced muscle injury
Background and Aims: The most commonly reported undesirable side effects of statin treatment are myalgia and myopathy. Short DNA fragments freely present in plasma (cfDNA) and potentially released from stressed and damaged muscle tissue could be important marker of such complications.
Source: Atherosclerosis - August 1, 2023 Category: Cardiology Authors: J. Hubacek, P. Huckova, D. Dlouha, V. Adamkova, M. Vrablik Source Type: research
HyperCKemia: an early sign of childhood-onset neutral lipid storage disease with myopathy
Neutral lipid storage disorders (NLSDs) are a group of autosomal recessive disorders in which triglycerides are abnormally deposited in various tissues owing to impaired triglyceride hydrolysis [1]. NLSDs are classified according to their clinical manifestations and causative genes into NLSDs with ichthyosis (NLSDI or Chanarin –Dorfman syndrome) and NLSDs with myopathy (NLSDM). NLSDI is caused by mutations in the comparative gene identification-58 (CGI-58, also known as ABHD5) gene and is characterized by ichthyosis, liver damage, hearing loss, ophthalmologic symptoms, and central nervous system involvement.
Source: Neuromuscular Disorders - July 30, 2023 Category: Neurology Authors: Xiaona Fu, Xinying Yang, Xiaofei Wang, Bingbing Jia, Wenna Ma, Hui Xiong, Fang Fang, Xiaotun Ren, Junlan Lv Tags: Research paper Source Type: research
Unusual presentation of antisynthetase syndrome: a case series and review of the literature
ConclusionsThe high variability of the antisynthetase syndrome in these cases demonstrates the importance of identification through an expanded panel and highlights the probability that this is a variable disease and that we need to include emerging molecular tests to promote the timely treatment of patients.
Source: Journal of Medical Case Reports - July 30, 2023 Category: General Medicine Source Type: research
