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Total 224 results found since Jan 2013.

Pathogenesis and treatment of mitochondrial myopathies: recent advances.
Authors: DiMauro S Abstract In this brief review, I have highlighted recent advances in several areas of mitochondrial medicine, including mtDNA-related diseases, mendelian mitochondrial encephalomyopathies, and therapy. The pathogenic mechanisms of mtDNA mutations, especially those affecting mitochondrial protein synthesis, are still largely unknown. The pathogenicity of homoplasmic mtDNA mutations has become evident but has also called attention to modifying nuclear genes, yet another example of impaired intergenomic signaling. The functional significance of the homoplasmic changes associated with mitochondrial h...
Source: Acta Myologica - November 25, 2014 Category: Neurology Tags: Acta Myol Source Type: research

Sporadic late‐onset nemaline myopathy as a rare cause of slowly progressive muscle weakness with young adult onset
Conclusions: Considering the recent reports of successful treatment of SLONM, early and correct diagnosis of SLONM associated with monoclonal gammopathy is important. SLONM should be added to the list of diseases to consider in the differential diagnosis of progressive muscle weakness with young adult onset. © 2014 Wiley Periodicals, Inc.
Source: Muscle and Nerve - November 1, 2014 Category: Internal Medicine Authors: Meiko Hashimoto Maeda, Hikari Ohta, Koji Izutsu, Jun Shimizu, Yoshikazu Uesaka Tags: Case of the Month Source Type: research

LMNA-associated myopathies: The Italian experience in a large cohort of patients
Conclusions: Our data provided new insights in LMNA-related myopathies, whose natural history appears to be dominated by cardiac involvement and related complications.
Source: Neurology - October 27, 2014 Category: Neurology Authors: Maggi, L., D'Amico, A., Pini, A., Sivo, S., Pane, M., Ricci, G., Vercelli, L., D'Ambrosio, P., Travaglini, L., Sala, S., Brenna, G., Kapetis, D., Scarlato, M., Pegoraro, E., Ferrari, M., Toscano, A., Benedetti, S., Bernasconi, P., Colleoni, L., Lattanzi, Tags: Muscle disease ARTICLE Source Type: research

Identification of a Novel Polyomavirus in a Pancreatic Transplant Recipient With Retinal Blindness and Vasculitic Myopathy
Conclusions. New Jersey polyomavirus (NJPyV-2013) is a novel polyomavirus that may have tropism for vascular endothelial cells.
Source: The Journal of Infectious Diseases - October 24, 2014 Category: Infectious Diseases Authors: Mishra, N., Pereira, M., Rhodes, R. H., An, P., Pipas, J. M., Jain, K., Kapoor, A., Briese, T., Faust, P. L., Lipkin, W. I. Tags: VIRUSES Source Type: research

C4d Staining as Immunohistochemical Marker in Inflammatory Myopathies
The diagnosis of an inflammatory myopathy is often established based on basic histologic studies. Additional immunohistochemical studies are sometimes required to support the diagnosis and the classification of inflammatory myopathies. Staining for major histocompatibility complex 1 (MHC1) often shows increased sarcolemmal labeling in inflammatory myopathies. Endomysial capillary staining C5b-9 (membrane attack complex) is a feature that is reported as frequently associated with dermatomyositis. Immunohistochemical staining for C4d is widely used for various applications including the assessment of antibody-mediated reject...
Source: Applied Immunohistochemistry and Molecular Morphology - October 1, 2014 Category: Chemistry Tags: Research Articles Source Type: research

Steroid avoidance or withdrawal for pancreas and pancreas with kidney transplant recipients.
CONCLUSIONS: There is currently insufficient evidence for the benefits and harms of steroid withdrawal in pancreas transplantation in the three RCTs (144 patients) identified. The results showed uncertain results for short-term risk of rejection, mortality, or graft survival in steroid-sparing strategies in a very small number of patients over a short period of follow-up. Overall the data was sparse, so no firm conclusions are possible. Moreover, the 13 observational studies findings generally concur with the evidence found in the RCTs. PMID: 25220222 [PubMed - as supplied by publisher]
Source: Cochrane Database of Systematic Reviews - September 15, 2014 Category: Journals (General) Authors: Montero N, Webster AC, Royuela A, Zamora J, Crespo Barrio M, Pascual J Tags: Cochrane Database Syst Rev Source Type: research

G.O.28: Sporadic late onset nemaline myopathy with MGUS: long term follow-up after melphalan and autologous stem cell transplantation
Sporadic late-onset nemaline myopathy (SLONM) is a rare, late-onset myopathy that progresses subacutely. Limb-girdle and axial weakness and atrophy predominate the clinical picture. Distal weakness, head drop, respiratory insufficiency, and dysphagia can also occur. Recognition of nemaline rods on trichrome staining in the biopsy is crucial. This can be confirmed by immunohistochemical staining of the muscle biopsy with alpha-actinin antibodies and by electron microscopy. SLONM is in a significant proportion (50 %) of cases associated with a monoclonal gammopathy of unknown significance (MGUS), a combination which portends...
Source: Neuromuscular Disorders - September 4, 2014 Category: Neurology Authors: N.C. Voermans, O. Benveniste, M. Minnema, H. Lokhorst, M. Lammens, W. Meersseman, M. Delforge, T. Kuntzer, J. Novy, T. Pabst, F. Bouhour, N. Romero, V. Leblond, P. Van den Bergh, M.C. Vekemans, B. Engelen, B. Eymard Source Type: research

G.P.150: Clinical heterogeneity in adult forms of FHL1 related myopathies. The “Institut de Myologie” experience
FHL1 gene mutations are responsible for reducing body myopathy (RBM), a rare condition characterized by progressive muscle weakness and the presence of intracytoplasmic aggregates. Age at onset ranges from early onset in infancy, through childhood and in some cases adult age. FHL1 mutations may also lead to allelic disorders including Emery-Dreifuss like muscular dystrophy (EDMD), hypertrophic cardiomyopathy (HCM), X-linked myopathy with postural muscle atrophy and generalized hypertrophy (X-MPMA) and X-linked scapuloperoneal myopathy (X-SM). To report clinical, muscle imaging, histological and genetic features found of ad...
Source: Neuromuscular Disorders - September 4, 2014 Category: Neurology Authors: R.A.B. Ben Yaou, T.A.N. Stojkovic, P.A.S. Laforet, A.L.I. De Becdelievre, H.E.N. Becane, K.A.R. Wahbi, C.A.R. Navarro, M.I.C. Fardeau, N.O.R. Romero, P.A.S. Richard, D.E.N. Duboc, G.I.S. Bonne, B.R.U. Eymard Source Type: research

G.P.145: LMNA-related muscular dystrophies: Clinical and histopathological spectrum in Argentina
Conclusion: There is a broad clinical spectrum of laminopathies, including a congenital form. Even when muscle biopsy shows inflammation or features suggestive of congenital myopathy, the clinical phenotype should prompt molecular testing for lamin A/C mutations to prevent cardiac complications.
Source: Neuromuscular Disorders - September 4, 2014 Category: Neurology Authors: S. Monges, F. Lubieniecki, F. de Castro, V. Lafuente, M. Gonzalez, G. Reyes, L. Chertkoff, S. Quijano-Roy, N.B. Romero, P. Richard, G. Bonne, P. Guicheney, M. Sacolitti, A.L. Taratuto Source Type: research

Prevention of Recurrent Episodes of Rhabdomyolysis With Tacrolimus in a Transplant Recipient With Myopathy
We describe a patient with chronic kidney disease that developed in the setting of recurrent rhabdomyolysis, resulting in the requirement for renal transplantation. After transplantation, the maintenance of tacrolimus trough concentrations above what is typically prescribed for standard renal transplant recipients appeared to confer protection from further episodes of rhabdomyolysis. This is consistent with previous case series that demonstrated a therapeutic benefit of the calcineurin inhibitor cyclosporine in collagen VI myopathies in the nontransplant population. This case report suggests the potential application of hi...
Source: American Journal of Therapeutics - September 1, 2014 Category: Drugs & Pharmacology Tags: Case Report Source Type: research

Uraemic sarcopenia: aetiology and implications
The term uraemic myopathy has been used loosely to describe the skeletal muscle abnormalities in uraemic patients. However, it does not fully explain the observed abnormalities as recent research has documented a normal skeletal muscle physiology in the presence of reduced muscle force, selective structural changes and significant muscle wasting. Ageing is associated with sarcopenia (muscle wasting) and an increase in the prevalence of chronic kidney disease (CKD), which accelerates the normal physiological muscle wasting. Similar to sarcopenia, muscle wasting in uraemic patients appears to be the hallmark of the disease a...
Source: Nephrology Dialysis Transplantation - August 27, 2014 Category: Urology & Nephrology Authors: Fahal, I. H. Tags: REVIEWS - CLINICAL SCIENCE AND OUTCOME RESEARCH IN NEPHROLOGY Source Type: research

Polymyositis in solid organ transplant recipients receiving tacrolimus
This study reports two male patients who underwent solid organ transplantation (liver and kidney). After transplant, the patients received continuous immunosuppressive therapy with oral tacrolimus and later presented clinical manifestations and laboratory signs of myopathy. Muscle biopsies of both patients clearly documented an inflammatory myopathy with the histological features of polymyositis including CD8+ T cells which invaded healthy muscle fibers and expressed granzyme B and perforin, many CD68+ macrophages and MHC class I antigen upregulation on the surface of most fibers. Because of the temporal association while ...
Source: Journal of the Neurological Sciences - August 8, 2014 Category: Neurology Authors: Gaetano Vattemi, Matteo Marini, Marzia Di Chio, Maria Colpani, Valeria Guglielmi, Giuliano Tomelleri Tags: Short Communications Source Type: research

Syngeneic myoblast transplantation improves muscle function in a murine model of X-linked myotubular myopathy.
Authors: Abstract The X-linked myotubular myopathy (XLMTM) is an isogenic muscle disease characterized by progressive wasting of skeletal muscle, weakness and premature death of affected male offspring. Recently, the XLMTM gene knock-in mouse, Mtm1 P.R69C, was found to have a similar phenotype as the MTM1 gene mutation in humans (e.g., central nucleation of small myofibers, attenuated muscle strength and motor unit potentials). Using this rodent model, we investigated whether syngeneic cell therapy could mitigate muscle weakness. Donor skeletal muscle derived myoblasts were isolated from C57BL6 wild type (WT) and...
Source: Cell Transplantation - July 25, 2014 Category: Cytology Tags: Cell Transplant Source Type: research

Repeated Radiofrequency Ablation of Atrial Tachycardia in Restrictive Cardiomyopathy Secondary to Myofibrillar Myopathy
This article is protected by copyright. All rights reserved.
Source: Journal of Cardiovascular Electrophysiology - April 24, 2014 Category: Cardiology Authors: CLAUDIA STÖLLBERGER, EDMUND GATTERER, JOSEF FINSTERER, KARL HEINZ KUCK, ROLAND RICHARD TILZ Tags: Original Article Source Type: research

CNS Toxoplasmosis: A Serious Complication Of Immunotherapy In The Neuromuscular Patient (P6.102)
Conclusions: Immunotherapy with medication such as MM can cause a devastating CNS toxoplasmosis in non-HIV patients with neuromuscular disorders. In contrast to the HIV infected patients, treatment is ineffective implying a different pathogenesis. Early consideration and recognition of this complication is important to possibly prevent unfavorable outcome.Disclosure: Dr. Bernardo has nothing to disclose. Dr. Chahin has nothing to disclose.
Source: Neurology - April 9, 2014 Category: Neurology Authors: Bernardo, D., Chahin, N. Tags: Neuromuscular Disease Source Type: research