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Total 252 results found since Jan 2013.
Clinical and Laboratory Findings on Glycogen Storage Disease Type V: Results from a Retrospective Observational Study in a Tertiary Hospital
Conclusion - GSDV is rare and presents in the pediatric age, with subtle manifestations often underestimated for decades. A late diagnosis may negatively impact the psychosocial development of affected children. It is essential to recognize some unique features that facilitate diagnosis: history of exercise intolerance, the second wind sign, and high resting serum CK levels. Identifying the disease-causing variants in PYGM is currently the gold standard for diagnosis as it is less invasive than performing a muscle biopsy, and may promptly diagnose the condition and avoid wrongful labelling of patients.PMID:37711120 | DOI:1...
Source: Endocrine, Metabolic and Immune Disorders Drug Targets - September 15, 2023 Category: Drugs & Pharmacology Authors: Ângela Pereira Jorge Diogo da Silva Ana Rita Soares Arlindo Guimas Sara Rocha M árcio Cardoso Cristina Garrido C élia Azevedo Soares Isabel Nunes Ana Maria Fortuna Dulce Quelhas S ónia Figueiroa Rosa Ribeiro Manuela Santos Esmeralda Martins Nataliya T Source Type: research
Impact of metformin on statin ‐associated myopathy risks in dyslipidemia patients
This study found that a comedication with metformin was associated with decreased myopathy risk in statin-treated dyslipidemia patients compared to statin-only users. Our findings suggest that metformin may provide protective effects on potential muscle toxicities induced by statin therapy.
Source: Pharmacology Research and Perspectives - July 8, 2023 Category: Drugs & Pharmacology Authors: Keunhyeong Bak,
Suhyeon Moon,
Minjung Ko,
Yeo Jin Choi,
Sooyoung Shin Tags: ORIGINAL ARTICLE Source Type: research
Home-Based Infusion of Alglucosidase Alfa Can Safely be Implemented in Adults with Late-Onset Pompe Disease: Lessons Learned from 18,380 Infusions
ConclusionGiven the small numbers of IARs that occurred with the home infusions, of which only one was severe, we conclude that alglucosidase alfa can be administered safely in the home situation, provided the appropriate infrastructure is present.
Source: BioDrugs - June 16, 2023 Category: Drugs & Pharmacology Source Type: research
Metformin protects fibroblasts from patients with GNE myopathy by restoring autophagic flux via an AMPK/mTOR-independent pathway
Biomed Pharmacother. 2023 May 29;164:114958. doi: 10.1016/j.biopha.2023.114958. Online ahead of print.ABSTRACTUDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase (GNE) myopathy is an autosomal recessive disease characterized by rimmed vacuoles (RVs). Previous studies have shown that metformin protects against several neuromuscular disorders. In the present study, we summarize the clinical features of three GNE patients with the p.D207V mutation. The pathogenesis of GNE myopathy is described, and the significance of metformin in this disease is observed. Skin biopsy-derived fibroblasts from patients with GNE myop...
Source: Biomedicine and pharmacotherapy = Biomedecine and pharmacotherapie - June 1, 2023 Category: Drugs & Pharmacology Authors: Tongtong Zhang Xiang Yin Xuefan Yu Ren Shang Liuzhe Lu Jing Miao Source Type: research
Gut-muscle axis and sepsis-induced myopathy: The potential role of gut microbiota
Biomed Pharmacother. 2023 May 6;163:114837. doi: 10.1016/j.biopha.2023.114837. Online ahead of print.ABSTRACTSepsis is described as an immune response disorder of the host to infection in which microorganisms play a non-negligible role. Most survivors of sepsis experience ICU-acquired weakness, also known as septic myopathy, characterized by skeletal muscle atrophy, weakness, and irreparable damage/regenerated or dysfunctional. The mechanism of sepsis-induced myopathy is currently unclear. It has been believed that this state is triggered by circulating pathogens and their related harmful factors, leading to impaired muscl...
Source: Biomedicine and pharmacotherapy = Biomedecine and pharmacotherapie - May 8, 2023 Category: Drugs & Pharmacology Authors: Yukun Liu Ligang Xu Zhaohui Yang Dongfang Wang Tianyu Li Fan Yang Zhanfei Li Xiangjun Bai Yuchang Wang Source Type: research
Comment on & quot;Drug –Drug Interaction of the Sodium Glucose Co-Transporter 2 Inhibitors with Statins and Myopathy: A Disproportionality Analysis Using Adverse Events Reporting Data & quot;
Source: Drug Safety - April 15, 2023 Category: Drugs & Pharmacology Source Type: research
Author ’s Reply to Kuss and Rathmann’s Comment on: “Drug-Drug Interaction of the Sodium Glucose Co-transporter 2 Inhibitors with Statins and Myopathy: A Disproportionality Analysis Using Adverse Events Reporting Data”
Source: Drug Safety - April 15, 2023 Category: Drugs & Pharmacology Source Type: research
