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Total 11221 results found since Jan 2013.

The diagnostic value of serum YKL-40 for myocardial involvement in immune-mediated necrotising myopathy
CONCLUSIONS: YKL-40 could be a promising non-invasive biomarker for diagnosing myocardial involvement in IMNM. However, larger prospective study is warranted.PMID:37279143 | DOI:10.55563/clinexprheumatol/itrujk
Source: Clinical and Experimental Rheumatology - June 6, 2023 Category: Rheumatology Authors: Li Xu Meng-Ge Yang Shejing Hu Yue Li Bi-Tao Bu Suqiong Ji Source Type: research

Real-world analysis of healthcare resource utilization by patients with X-linked myotubular myopathy (XLMTM) in the United States
X-linked myotubular myopathy (XLMTM) is a rare, life-threatening congenital myopathy with multisystem involvement, often requiring invasive ventilator support, gastrostomy tube feeding, and wheelchair use. Und...
Source: Orphanet Journal of Rare Diseases - June 6, 2023 Category: Internal Medicine Authors: Robert J. Graham, Basil T. Darras, Tmirah Haselkorn, Dan Fisher, Casie A. Genetti, Weston Miller and Alan H. Beggs Tags: Research Source Type: research

Recombinant human neuregulin-1 alleviates immobilization-induced neuromuscular dysfunction via neuregulin-1/ErbB signaling pathway in rat
Arch Biochem Biophys. 2023 Jun 3:109631. doi: 10.1016/j.abb.2023.109631. Online ahead of print.ABSTRACTImmobilization-induced Neuromuscular Dysfunction (NMD) increases morbidity and mortality of patients in Intensive Care Units. However, the underlying mechanism of NMD remain poorly elucidated which limited the development of therapeutic method for NMD. Here we developed an immobilization rat model and tested the hypothesis that decreased expression of NRG-1, abnormal expression and distribution of nicotinic acetylcholine receptors (nAChRs) in skeletal muscle caused by immobilization can lead to NMD. To investigate the rol...
Source: Archives of Biochemistry and Biophysics - June 5, 2023 Category: Biochemistry Authors: Jun Yang Jun Cao Su Min Ping Li Feng Lv Li Ren Source Type: research

Uniparental disomy for chromosome 1 with POMGNT1 splice-site variant causes muscle-eye-brain disease
In conclusion, to the best of our knowledge, we present the first case of MEB caused by UPD, providing valuable insights into the genetic mechanisms underlying this condition.
Source: Frontiers in Genetics - June 5, 2023 Category: Genetics & Stem Cells Source Type: research

The acute effect of different NAD < sup > + < /sup > precursors included in the combined metabolic activators
In conclusion, this study provided a plasma metabolomic landscape of different CMA formulations, and proposed that CMAs with Nam, NMN as well as NR can be administered for boosting NAD+ levels to improve altered metabolic conditions.PMID:37271226 | DOI:10.1016/j.freeradbiomed.2023.05.032
Source: Free Radical Biology and Medicine - June 4, 2023 Category: Biology Authors: Xiangyu Li Hong Yang Han Jin Hasan Turkez Gurkan Ozturk Hamdi Levent Doganay Cheng Zhang Jens Nielsen Mathias Uhl én Jan Bor én Adil Mardinoglu Source Type: research

Can coenzyme Q10 alleviate the toxic effect of fenofibrate on skeletal muscle?
In conclusion, treatment with CoQ10 improved muscular structure by suppressing oxidative stress, att enuating inflammation, and inhibiting apoptosis.
Source: Histochemistry and Cell Biology - June 4, 2023 Category: Biomedical Science 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

Novel p.Asp27Glu ACTA1 Variant Features Congenital Myopathy with Finger Flexor Weakness, Cardiomyopathy, and Cardiac Conduction Defects
The skeletal muscle α-actin 1 gene (ACTA1) encodes skeletal muscle α-actin, a highly conserved protein constituting the main actin isoform in thin filaments of the sarcomere, which is essential to skeletal and cardiac muscle contraction through interaction with myosin [1–3]. Pathogenic variants in ACTA1 cause autos omal dominant, or, less frequently, recessive congenital myopathies [1–5]. Clinical presentations are heterogeneous in age of onset and severity, ranging from severe infantile weakness with respiratory involvement to mild adolescent-to-adult-onset proximal-predominant weakness [6–8] with poor ge notype-p...
Source: Neuromuscular Disorders - May 30, 2023 Category: Neurology Authors: Bridget Mulvany-Robbins, Brendan Putko, Laura Schmitt, Gavin Oudit, Cecile Phan, Grayson Beecher Tags: Case report Source Type: research

Role of mitochondria in the myopathy of juvenile dermatomyositis and implications for skeletal muscle calcinosis
CONCLUSIONS: Overall, our study demonstrates the mitochondrial involvement in the skeletal muscle pathology and calcinosis of JDM and mtROS as a central player in the calcification of human skeletal muscle cells. Therapeutic targeting of mtROS and/or upstream inducers, such as inflammation, may alleviate mitochondrial dysfunction, leading to calcinosis. AMAs can potentially identify patients with JDM at risk for developing calcinosis.PMID:37244073 | DOI:10.1016/j.jaut.2023.103061
Source: Journal of Autoimmunity - May 27, 2023 Category: Allergy & Immunology Authors: Bhargavi Duvvuri Lauren M Pachman Payton Hermanson Ting Wang Richard Moore Dennis Ding-Hwa Wang Aaron Long Gabrielle A Morgan Stephen Doty Rong Tian Yasemin Sancak Christian Lood Source Type: research

Dermatomyositis and Crohn's disease – Case report
We present an unusual association between Crohn's disease and dermatomyositis in a 28-year-old man. The patient presented with a 2-month history of proximal muscle weakness and a skin rash with heliotrope periorbital edema. Since the patient had already been diagnosed with Crohn's disease, he was under immunosuppressive therapy, and he had a family history of psoriasis, the diagnosis was not immediate and required an integrative approach. Laboratory analysis revealed elevated creatine kinase, aldolase, lactic dehydrogenase and transaminase levels. He had no symptoms of Crohn's disease exacerbation. Magnetic resonance imagi...
Source: International Journal of Rheumatic Diseases - May 27, 2023 Category: Rheumatology Authors: Ana Neves, In ês Mendonça, José Marques, José Costa, Jorge Almeida Tags: CASE REPORT Source Type: research