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Procedure: Skin Biopsy

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Total 155 results found since Jan 2013.

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

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

GIST (ILEAL) Revealed by Peculiar Paraneoplastic-myositis and Hypo-Thyroidism
CONCLUSION: Upto 10% dermato-myositis 5% poly-myositis can be paraneoplastic manifestation of underlying solid organ malignancy. overexpression of thyroid-hormone-inactivating type 3 iodothyronine deiodinase (D3) enzyme from GIST tumours often leads to hypothyroidism. References 1.Maynard MA, Marino-Enriquez A, Fletcher JA, et al. Thyroid hormone inactivation in gastrointestinal stromal tumors. N Engl J Med 2014;370:1327-1334. 2.Samimi M, Nseir A, Kerdraon R, et al. Tumeur stromale duodenale revelee par une dermatomyosite paranéoplasiqueStromal duodenal tumor revealed by paraneoplastic dermatomyositis. Gastroenterol Clin ...
Source: Journal of the Association of Physicians of India - April 28, 2023 Category: General Medicine Authors: Chirantan Mandal Pradeep Kumar Dutta Source Type: research