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Total 155 results found since Jan 2013.

Detecting Collagen VI in Bethlem Myopathy Letters
Zamurs et al. (1) investigated the functional consequences of a homozygous COL6A2 p.D871N mutation in muscle biopsy and fibroblast cultures of a recessive Bethlem myopathy patient. The authors reported the absence of collagen VI (col6) in muscle biopsy, a pattern considered distinctive for Ullrich congenital muscular dystrophy (UCMD). This finding appears inconsistent with the data provided for the patient's skin fibroblasts, which clearly show that col6 was secreted in the extracellular matrix (1). Moreover, other authors showed that recessive mutations in the α2(VI) C2 domain, with consequences similar to those reported...
Source: Journal of Biological Chemistry - March 20, 2015 Category: Chemistry Authors: Sabatelli, P., Gualandi, F., Bonaldo, P., Merlini, L. Tags: Letters Source Type: research

Collagen XII myopathy with rectus femoris atrophy and collagen XII retention in fibroblasts
This article is protected by copyright. All rights reserved.
Source: Muscle and Nerve - January 17, 2018 Category: Internal Medicine Authors: Nanna Witting, Thomas Krag, Ulla Werlauff, Morten Duno, Sofie Thuroe Oestergaard, Julia Rebecka Dahlqvist, John Vissing Tags: Short Report Source Type: research

18F-FDG PET/CT versus conventional investigations for cancer screening in autoimmune inflammatory myopathy in the era of novel myopathy classifications
Conclusion 18F-FDG PET/CT does not appear to be useful in cancer screening for AIM patients compared with conventional screening and carries potential harms associated with follow-up investigations. The risk of cancer in AIM differs by myositis-specific antibodies-defined subsets and cancer screening is likely to be indicated only in high-risk patients, particularly DM. These results, replicated in larger, multicentered studies, may carry significant consequences for optimal management of AIM and health resource utilization.
Source: Nuclear Medicine Communications - March 16, 2019 Category: Nuclear Medicine Tags: ORIGINAL ARTICLES Source Type: research

Pulmonary pathologic manifestations of anti-glycyl-tRNA synthetase (anti-EJ)-related inflammatory myopathy
Conclusions Identifying ARS-associated autoantibodies in ILD patients with or without myopathy is desirable because patients may respond well to immunosuppressive therapy, and their prognosis is better than that of patients with idiopathic forms of DAD or UIP.
Source: Journal of Clinical Pathology - July 16, 2014 Category: Pathology Authors: Schneider, F., Yousem, S. A., Bi, D., Gibson, K. F., Oddis, C. V., Aggarwal, R. Tags: Immunology (including allergy), Muscle disease, Inflammation, Interstitial lung disease, Degenerative joint disease, Musculoskeletal syndromes, Clinical diagnostic tests Original article Source Type: research

G.P.156: Mutations in FAM111B cause Hereditary Fibrosing Poikiloderma with tendon contracture, myopathy and pulmonary fibrosis
In conclusion, HFP with tendon contracture, myopathy and pulmonary fibrosis, a phenotypically recognisable syndrome, is caused by autosomal dominant mutations in FAM111B gene. These findings provide genetic evidence for a new pathogenetic pathway for muscle impairment.
Source: Neuromuscular Disorders - September 4, 2014 Category: Neurology Authors: S. Mercier, S. Küry, A. Magot, N. Bodak, C. Bou-Hanna, V. Cormier-Daire, A. David, L. Faivre, D. Figarella-Branger, R. Gherardi, A. Goldenberg, A. Hamel, J. Igual, D. Israël-Biet, C. Kannengiesser, C. Laboisse, C. Le Caignec, A. Munnich, J.M. Mussini, J Source Type: research

Bethlem myopathy phenotypes and follow up: Description of 8 patients in the mildest end of the spectrum
In this report we describe the clinical features and evolution, as well as MRI, muscle biopsy and skin fibroblasts culture's findings of a group of 8 patients carrying mutations in COL6A1, COL6A2 or COL6A3 genes with a long follow up duration.
Source: Neuromuscular Disorders - September 10, 2016 Category: Neurology Authors: S. Cruz, S. Figueroa-Bonaparte, E. Gallardo, A. de Becdeli èvre, C. Gartioux, V. Allamand, P. Piñol, M. Rodríguez-García, C. Jiménez-Mallebrera, J. Llauger, L. González-Rodríguez, E. Cortés-Vicente, I. Illa, J. Díaz-Manera Source Type: research

Scurfy Mice Develop Features of Connective Tissue Disease Overlap Syndrome and Mixed Connective Tissue Disease in the Absence of Regulatory T Cells
Discussion Treg represent a lineage of T cells which play a fundamental role in maintaining humoral tolerance in the periphery. This subset of “suppressor T cells” is identified as FoxP3-expressing CD4+ T cells (16, 17). The unrestrained expression of FoxP3 is essential for the development and function of Treg (4). Accordingly, a disruption of the Foxp3 gene in scurfy mice results in an autoimmune lymphoproliferative disorder with fatal multi-organ inflammation (18). Since the causative mutation occurs in orthologous genes, the scurfy phenotype is indicated as the murine equivalent of the human IPEX sy...
Source: Frontiers in Immunology - April 23, 2019 Category: Allergy & Immunology Source Type: research

Peripheral Neuromuscular Manifestations of Sarcoidosis (P4.124)
Conclusions: Peripheral neuromuscular manifestations were suspected in 75% of patients presenting to our clinics, and 29% of patients had confirmed neuropathy or myopathy. The higher frequency seen in our study as compared to the literature may be due to our center being a major neuromuscular tertiary referral centerDisclosure: Dr. Nayak has nothing to disclose. Dr. Dimachkie has received personal compensation for activities with Pfizer Inc, Depomed, Merck, CSL-Behring, Nufactor, Biomarin, and Catalyst. Dr. Dimachkie has received research support from CSL-Behring. Dr. Herbelin has nothing to disclose. Dr. McVey has nothing...
Source: Neurology - April 9, 2014 Category: Neurology Authors: Nayak, L., Bittel, B., Wang, Y., Dimachkie, M., Herbelin, L., McVey, A., Barohn, R., Pasnoor, M. Tags: Neuropathy: Pathogenesis and Diagnostic Testing Source Type: research

A case of generalized argyria presenting with muscle weakness
ConclusionsClinicians should be aware of clinical manifestations of argyria and consider it in differential diagnosis when they examine patients who present with skin pigmentation and muscle weakness.
Source: Annals of Occupational and Environmental Medicine - October 2, 2017 Category: Occupational Health Source Type: research

Genetic and Clinical Findings in a Chinese Cohort of Patients with collagen VI-Related Myopathies.
Abstract Collagen VI-related myopathy, caused by pathogenic variants in the genes encoding collagen VI, represents a clinical continuum from Ullrich congenital muscular dystrophy (UCMD) to Bethlem myopathy (BM). Clinical data of 60 probands and their family members were collected and muscle biopsies of 26 patients were analyzed. COL6A1, COL6A2 and COL6A3 exons were analyzed by direct sequencing or next generation sequencing (NGS). Sixty patients were characterized by delayed motor milestones, muscle weakness, skin and joint changes with forty UCMD and twenty BM. Muscle with biopsies revealed dystrophic changes and...
Source: Clinical Genetics - February 8, 2018 Category: Genetics & Stem Cells Authors: Fan Y, Liu A, Wei C, Yang H, Chang X, Wang S, Yuan Y, Bonnemann C, Wu Q, Wu X, Xiong H Tags: Clin Genet Source Type: research

Therapy of myositis.
Abstract Idiopathic inflammatory myopathy consists of dermatomyositis (DM), polymyositis (PM), inclusion body myositis (IBM) and necrotizing autoimmune myopathy (NAM). At all stages of myositis, physiotherapy is effective in improving muscle strength, endurance and in maintaining joint motion. In DM and PM the therapy is initiated with glucocorticosteroids. Steroid-sparing agents (azathioprine, methotrexate and cyclosporin A) are added to prevent Cushing's syndrome or an unsatisfactory response. Therapy can also be escalated with intravenous immunoglobulins. Tacrolimus and mycophenolate mofetil (MMF) were effectiv...
Source: Zeitschrift fur Rheumatologie - April 1, 2013 Category: Rheumatology Authors: Keck AD, Walker UA Tags: Z Rheumatol Source Type: research

Meeting the challenges in the diagnosis of inflammatory myopathies.
Authors: Manie M Abstract Inflammatory myopathy (IM) is a rubric term to describe a heterogeneous group of muscle diseases typified by dermatomyositis and polymyositis. The current classifications are unsatisfactory, but IM associated with other connective tissue diseases (CTDs), such as systemic lupus erythematosus, underlying malignancy and HIV, should also be included. Although uncommon, IM should always be considered in a patient who presents with proximal weakness of gradual onset and has raised serum muscle enzymes. The diagnosis may be obvious if the patient has diagnostic skin signs such as heliotropic rash...
Source: South African Medical Journal - March 6, 2016 Category: African Health Tags: S Afr Med J Source Type: research

Erythroderma and extensive poikiloderma – a rare initial presentation of dermatomyositis: a case report
ConclusionsThis case illustrates a rare presentation of dermatomyositis initially presenting as fever, erythroderma, and proximal muscle weakness and later developing poikiloderma involving more than 90% of the skin. It is important to be aware of this rare presentation to avoid misdiagnosis. With the currently available literature it is not possible to conclude that erythroderma is a bad prognostic factor in dermatomyositis or a predictive factor for a malignancy. Patients have a good response to steroids with a combination of immunosuppressants.
Source: Journal of Medical Case Reports - March 24, 2018 Category: General Medicine Source Type: research

Inflammatory myopathies
We report a patient with clinical scleroderma presenting with subacute myopathy with lymphoid follicle on muscle histology. A 29-year-old female with scleroderma confirmed by clinical criteria and skin biopsy, using colchicine, presented with subacute proximal muscle weakness associated with dysphagia and dropped head without CK elevation, but EMG/NCS demonstrated myopathic findings.
Source: Neuromuscular Disorders - September 6, 2018 Category: Neurology Authors: A. Silva, M. Vianna, R. Mendon ça, E. Zanoteli Source Type: research

Dermatomyositis in a patient undergoing nivolumab therapy for metastatic melanoma: a case report and review of the literature
We present the case of a 63-year-old man with metastatic melanoma undergoing treatment with nivolumab who developed significant motor weakness, paresthesias of both hands, swollen fingers, and a pruritic rash over the face, chest, and upper back after two cycles. Creatine kinase was elevated. Electromyography revealed a myopathic pattern, muscle biopsy of the deltoid revealed an inflammatory myopathy, and skin biopsy showed interface dermatitis. There were no detectable autoantibodies except positive antinuclear antibody. He was diagnosed with immunotherapy-induced dermatomyositis, nivolumab was held, and he was treated wi...
Source: Melanoma Research - May 2, 2020 Category: Cancer & Oncology Tags: Short Communications Source Type: research