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Generalized Dilative Arteriopathy without Myopathy: A New Phenotype of Pompe Disease (P6.256)
Conclusion. This case demonstrates that LOPD may present as an isolated generalized dilative arteriopathy with repeated kidney and brain infarcts, and no myopathy. Pompe disease should be systematically screened in patients with generalized dilative arteriopathy.Disclosure: Dr. Echaniz-Laguna has received personal compensation for activities with Sanofi-Aventis Pharmaceuticals, Inc. Dr. Bataillard has nothing to disclose. Dr. Quenardelle has nothing to disclose.
Source: Neurology - April 9, 2014 Category: Neurology Authors: Echaniz-Laguna, A., Bataillard, M., Quenardelle, V. Tags: Cerebrovascular Disease and Interventional Neurology: Case Reports Source Type: research

Dermatomyositis associated with hepatitis B virus-related hepatocellular carcinoma.
Abstract Dermatomyositis is an idiopathic inflammatory myopathy with typical cutaneous manifestations. It has been proposed that dermatomyositis may be caused by autoimmune responses to viral infections. Previous studies have shown an association between dermatomyositis and malignant tumors such as ovarian cancer, lung cancer, and colorectal cancer. However, a chronic hepatitis B virus (HBV) infection associated with dermatomyositis and hepatocellular carcinoma (HCC) has been very rarely reported. Here, we report a rare case of dermatomyositis coinciding with HBV-associated HCC. A 55-year-old male was confirmed to...
Source: The Korean Journal of Internal Medicine - March 1, 2014 Category: Internal Medicine Authors: Yang SY, Cha BK, Kim G, Lee HW, Kim JG, Chang SK, Kim HJ Tags: Korean J Intern Med Source Type: research

Dermal Ultrastructure in Collagen VI Myopathy.
Abstract Abstract The COL VI mutations are responsible for a spectrum of myopathies. The authors report cutaneous ultrastructural alterations in a patient with COL6A2 myopathy. The changes include variations in size of collagen fibrils, flower-like sections of collagen fibrils, as well as thickening of vessel and nerve basement membranes. Electron microscopy of a skin biopsy contributes to the diagnosis of COL VI myopathies. PMID: 24134684 [PubMed - as supplied by publisher]
Source: Ultrastructural Pathology - October 17, 2013 Category: Pathology Authors: Hermanns-Lê T, Piérard GE, Piérard-Franchimont C, Delvenne P Tags: Ultrastruct Pathol Source Type: research

Compound heterozygous mutations of the TNXB gene cause primary myopathy
This study identifies a TNX-deficient patient presenting with a primary muscle disorder, thus expanding the phenotypic spectrum of TNX-related abnormalities. Biopsy findings provide evidence that TNX deficiency leads to muscle softness and to mislocalization of myotendinous junctions.
Source: Neuromuscular Disorders - June 13, 2013 Category: Neurology Authors: Isabelle Pénisson-Besnier, Valérie Allamand, Philippe Beurrier, Ludovic Martin, Joost Schalkwijk, Ivonne van Vlijmen-Willems, Corine Gartioux, Fransiska Malfait, Delfien Syx, Laurent Macchi, Pascale Marcorelles, Brigitte Arbeille, Anne Croué, Anne De P Tags: Research papers 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

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