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Total 442 results found since Jan 2013.
Crohn's disease-related 'gastrocnemius myalgia syndrome' successfully treated with infliximab: A case report
CONCLUSION: The GMS represent a rare CD-associated inflammatory myopathy for which anti-tumour necrosis factor-α therapy might be considered as an effective therapeutic option.PMID:35317272 | PMC:PMC8891723 | DOI:10.3748/wjg.v28.i7.755
Source: World Journal of Gastroenterology : WJG - March 23, 2022 Category: Gastroenterology Authors: Julien Catherine Hazim Kadhim Fr édéric Lambot Claire Liefferinckx Virginie Meurant Lukas Otero Sanchez Source Type: research
Epilepsia Partialis Continua a Clinical Feature of a Missense Variant in the ADCK3 Gene and Poor Response to Therapy
ConclusionsA novel homozygous missense variant [NM_020247.5: c.814G>T; (p.Gly272Cys)] was identified within theADCK3 gene, which is the first mutation in this gene in the Iranian population. Bioinformatics analysis showed this variant is damaging. Based on our patient, clinicians should consider genetic testing earlier to instant diagnosis and satisfactory treatment based on exact etiology to prevent further neurologic sequelae.
Source: Journal of Molecular Neuroscience - March 11, 2022 Category: Neuroscience Source Type: research
MRI Features of Stroke-Like Episodes in Mitochondrial Encephalomyopathy With Lactic Acidosis and Stroke-Like Episodes
Mitochondrial myopathy encephalopathy lactic acidosis and stroke-like episodes (MELAS) is an important cause of stroke-mimicking diseases that predominantly affect patients before 40 years of age. MELAS results from gene mutations in either mitochondrial DNA (mtDNA) or nuclear DNA (nDNA) responsible for the wide spectrum of clinical symptoms and imaging findings. Neurological manifestations can present with stroke-like episodes (the cardinal features of MELAS), epilepsy, cognitive and mental disorders, or recurrent headaches. Magnetic resonance imaging (MRI) is an important tool for detecting stroke-like lesions, accurate ...
Source: Frontiers in Neurology - February 9, 2022 Category: Neurology Source Type: research
What Are Some Initial Evaluations for Suspected Congenital Muscle Diseases?
Discussion
Usually congenital myopathies (CM, e.g. nemaline, core, centronuclear myopathies, etc.) and congenital muscular dystrophy (CMD, e.g. LAMA2-related, collage VI-related, alpha-dystroglycan-related muscular dystrophy, etc.) have been diagnosed based on physical examination and histopathology. Traditionally CMs are due to problems with the muscle contractile apparatus and structures that assist excitation-contraction coupling. CMD are due to problems with the extracellular matrix, muscle membrane and sarcolemmal membrane. Differentiating between CM and CMD have become more blurred as genetic testing and additional r...
Source: PediatricEducation.org - January 17, 2022 Category: Pediatrics Authors: Pediatric Education Tags: Uncategorized Source Type: news
A Muscle Biosignature Differentiating Between Limb-Girdle Muscular Dystrophy and Idiopathic Inflammatory Myopathy on Magnetic Resonance Imaging
Conclusions: MRI could be a valuable tool to differentiate LGMD from IIM based on the discrepancy in muscle fat substitution, and the adductor magnus muscle could provide a biosignature to categorizing LGMD.
Source: Frontiers in Neurology - December 20, 2021 Category: Neurology Source Type: research
Brachio-cervical inflammatory myopathy associated with systemic sclerosis. Case series and review of literature
This study was aimed at describing a case series of brachio-cervical inflammatory myopathy (BCIM) associated with systemic sclerosis (SSc), due to its rarity and limited coverage in published data. Another aim was to provide a literature review. We reported four cases of BCIM-SSc from our tertiary center. In addition, we researched the literature and found six articles featuring 17 patients who fit this phenotype. We pooled all cases and reported their features. Most patients were female and had limited SSc, and the median time of BCIM presentation was three years after SSc diagnosis. Asymmetric muscle involvement, scapula...
Source: Reumatismo - August 3, 2021 Category: Rheumatology Authors: C S R Araujo R Miossi F H C De Souza M D Costa A M S Da Silva E D Campos E Zanoteli S K Shinjo Source Type: research
