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Total 155 results found since Jan 2013.

Dermatomyositis-like syndrome revealing statin-induced necrotizing autoimmune myopathy with anti-HMGCR antibodies.
CONCLUSION: Dermatologists must be able to recognise this rare entity of "pseudo-dermatomyositis" and then discontinue statin intake if present and carry out further investigations consisting of muscle biopsy and serological tests. PMID: 30929872 [PubMed - as supplied by publisher]
Source: Annales de Dermatologie et de Cenereologie - March 27, 2019 Category: Dermatology Authors: Merlant M, Fite C, Kottler D, Maisonobe L, Dossier A, Deschamps L, Descamps V Tags: Ann Dermatol Venereol 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

Fashionably Late: A Case of Delayed Cutaneous Manifestations in Juvenile Dermatomyositis.
Abstract Juvenile dermatomyositis (JDM) is a rare, but well recognized multi-systemic inflammatory myopathy in children defined by proximal muscle weakness and distinctive skin lesions, that if recognized and treated early result in decreased morbidity and mortality. The 1975 criteria established by Bohan and Peter center around the propensity for early development of heliotrope and Gottron's lesions in combination with specific laboratory abnormalities, and are still the leading diagnostic tool. The following case demonstrates a toddler with an atypical presentation of JDM in which delayed dermatologic manifestat...
Source: Clin Med Res - October 24, 2018 Category: Research Authors: Antoine M, Reeves PT, Rohena L, Jones O, Faux B Tags: J Clin Med Res 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

Doctors Think a Woman ’s Tattoo May Have Been Causing Her Severe Leg Pain
Doctors in Scotland believe a woman’s large tattoo on her leg may have been the cause of her unexplained inflammation and severe leg pain. The authors of a report on the woman’s case, published in BMJ Case Reports, say it is a reminder to physicians that they should be mindful of their patients’ tattoos if they encounter unusual and unexplained symptoms. The 31-year-old woman was suffering a condition called inflammatory myopathy, which affected her left leg and caused pain severe enough to disrupt her sleep. The woman had a double lung transplant in 2009, and was taking drugs to suppress her immune syst...
Source: TIME: Health - June 19, 2018 Category: Consumer Health News Authors: Alice Park Tags: Uncategorized healthytime onetime tattoos Source Type: news

Mutations in COA7 cause spinocerebellar ataxia with axonal neuropathy
AbstractSeveral genes related to mitochondrial functions have been identified as causative genes of neuropathy or ataxia. Cytochromec oxidase assembly factor 7 (COA7) may have a role in assembling mitochondrial respiratory chain complexes that function in oxidative phosphorylation. Here we identified four unrelated patients with recessive mutations inCOA7 among a Japanese case series of 1396 patients with Charcot-Marie-Tooth disease (CMT) or other inherited peripheral neuropathies, including complex forms of CMT. We also found that all four patients had characteristic neurological features of peripheral neuropathy and atax...
Source: Brain - April 27, 2018 Category: Neurology 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

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

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

Dropped Head Syndrome and the Presence of Rimmed Vacuoles in a Muscle Biopsy in Scleroderma-Polymyositis Overlap Syndrome Associated with Anti-Ku Antibody.
Authors: Takeshi Y, Mai Y, Kinjo M, Manabu J, Itsuro H Abstract A 66-year-old woman with a history of interstitial lung disease presented with a 3-month history of dropped head syndrome (DHS), followed by camptocormia and extremity weakness. A clinical examination revealed Raynaud phenomenon, arthralgia, distal skin sclerosis, and microbleeds in the nailfold capillaries. An anti-Ku antibody test was positive. A muscle biopsy revealed inflammatory myopathy with rimmed vacuoles (RVs). The diagnosis of scleroderma-polymyositis (SSc-PM) overlap syndrome was made. RVs on a muscle biopsy in a patient with inflammatory my...
Source: Internal Medicine - November 21, 2017 Category: Internal Medicine Tags: Intern Med Source Type: research

Association of Fibrosing Myopathy in Systemic Sclerosis and Higher Mortality
ConclusionFibrosing myopathy is a unique histologic subtype of muscle disease among weak patients with SSc and is associated with significantly worse mortality compared to those with inflammation and/or necrosis on muscle biopsy.
Source: Arthritis Care and Research - October 27, 2017 Category: Rheumatology Authors: Julie J. Paik, Fredrick M. Wigley, Ami A. Shah, Andrea M. Corse, Livia Casciola ‐Rosen, Laura K. Hummers, Andrew L. Mammen Tags: Brief Report Source Type: research

Pulmonary Pathologic Manifestations of Anti-Alanyl-tRNA Synthetase (Anti-PL-12)-Related Inflammatory Myopathy.
CONCLUSIONS: - Lung disease is often the first manifestation of anti-PL-12 ARS. There are no pathognomonic histopathologic features to distinguish anti-PL-12 ARS-related lung disease from idiopathic variants of diffuse interstitial lung disease. Increased inflammation, lymphoid aggregates, and nonspecific interstitial pneumonia-like areas in a biopsy, as well as clinical features of mechanic's hands, Raynaud phenomenon, arthritis, and fever, should prompt pathologists to suggest involvement by ARS. PMID: 28967806 [PubMed - as supplied by publisher]
Source: Archives of Pathology and Laboratory Medicine - October 2, 2017 Category: Laboratory Medicine Authors: Schneider F, Yousem SA, Oddis CV, Aggarwal R Tags: Arch Pathol Lab Med 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

RIG-I expression in perifascicular myofibers is a reliable biomarker of dermatomyositis
Dermatomyositis (DM) is inflammatory myopathy or myositis characterized by muscle weakness and skin manifestations. In the differential diagnosis of DM the evaluation of the muscle biopsy is of importance amon...
Source: Arthritis Research and Therapy - July 24, 2017 Category: Rheumatology Authors: Xavier Su árez-Calvet, Eduard Gallardo, Iago Pinal-Fernandez, Noemi De Luna, Cinta Lleixà, Jordi Díaz-Manera, Ricardo Rojas-García, Ivan Castellví, M. Angeles Martínez, Josep M. Grau, Albert Selva-O’Callaghan and Isabel Illa Source Type: research

Fibrosing myopathy in systemic sclerosis associates with higher mortality
Conclusion: Fibrosing myopathy is a unique histological subtype of muscle disease among weak patients with SSc and is associated with significantly worse mortality compared to those with inflammation and/or necrosis on muscle biopsy. This article is protected by copyright. All rights reserved.
Source: Arthritis Care and Research - May 23, 2017 Category: Rheumatology Authors: Julie J. Paik, Fredrick M. Wigley, Ami A. Shah, Andrea M. Corse, Livia Casciola ‐Rosen, Laura K. Hummers, Andrew L. Mammen Tags: Brief Report Source Type: research