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Total 442 results found since Jan 2013.
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
Imaging of Joint and Soft Tissue Involvement in Systemic Lupus Erythematosus
AbstractPurpose of ReviewTo highlight the potential uses and applications of imaging in the assessment of the most common and relevant musculoskeletal (MSK) manifestations in systemic lupus erythematosus (SLE).Recent FindingsUltrasound (US) and magnetic resonance imaging (MRI) are accurate and sensitive in the assessment of inflammation and structural damage at the joint and soft tissue structures in patients with SLE. The US is particularly helpful for the detection of joint and/or tendon inflammation in patients with arthralgia but without clinical synovitis, and for the early identification of bone erosions. MRI plays a...
Source: Current Rheumatology Reports - July 16, 2021 Category: Rheumatology Source Type: research
A Case of Inflammatory Myopathy in Graft vs Host Disease - A Potential Role for Ibrutinib
Idiopathic inflammatory myopathies are a group of systemic autoimmune conditions with dominant manifestations on skeletal muscle and include the subgroups dermatomyositis, polymyositis, inclusion body myositis and necrotising myopathy. These subgroups share the clinical features of skeletal muscle weakness, raised serum levels of creatine kinase (CK), myopathic changes on electromyography and magnetic resonance imaging, but are distinguished by autoantibody profiles, and importantly by muscle histopathology which reflects the distinct pathogenetic mechanisms [1].
Source: Neuromuscular Disorders - July 4, 2021 Category: Neurology Authors: Michael Wilkinson, David Yeung, Vidya Limaye Tags: Case report Source Type: research
Case Report: Mitochondrial Encephalomyopathy Presents as Epilepsy, Ataxia, and Dystonia With a Rare Mutation in MT-TW
Mitochondrial diseases are a group of common inherited disorders caused by mutations in nuclear DNA or mitochondrial DNA (mtDNA); the clinical phenotype of diseases caused by mutant mtDNA is challenging owing to heteroplasmy of mtDNA and may delay diagnosis and treatment. Herein, we report the case of an adult male who slowly developed epilepsy, ataxia, dystonia, impaired cognition, and hearing impairment over 14 years in the absence of clinical myopathy. His lactate level was normal. Brain computed tomography showed calcifications of the bilateral basal ganglia, thalamus, and cerebellar dentate nuclei. Magnetic resonance ...
Source: Frontiers in Neurology - July 1, 2021 Category: Neurology Source Type: research
Nemaline Rod/Cap Myopathy Due to Novel Homozygous < em > MYPN < /em > Mutations: The First Report from South Asia and Comprehensive Literature Review
CONCLUSIONS: This study elaborates on two patients with homozygous MYPN pathogenic variants, presenting as slowly progressive congenital myopathy. These patients are only the tenth and eleventh cases reported in the English literature, and the first from South Asia. The clinical phenotype reiterates the mild form of nemaline rod/cap myopathy. A comprehensive literature review is presented.PMID:34184449 | DOI:10.3988/jcn.2021.17.3.409
Source: Journal of Clinical Neurology - June 29, 2021 Category: Neurology Authors: Kiran Polavarapu Mainak Bardhan Ram Murthy Anjanappa Seena Vengalil Veeramani Preethish-Kumar Leena Shingavi Tanushree Chawla Saraswati Nashi Dhaarini Mohan Gautham Arunachal Thenral S Geetha Vedam Ramprasad Atchayaram Nalini Source Type: research
