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Total 224 results found since Jan 2013.

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

Spectrum of congenital myopathies: A single centre experience
Conclusion: CMs are rare and the diagnosis can only be established on muscle biopsy. Defining the specific CMs helps the clinician in counseling the patient and family.
Source: Neurology India - July 16, 2013 Category: Neurology Authors: Megha S UppinAK MeenaChalla Sundaram Source Type: research

Prevalence and clinical outcomes of dystrophin ‐associated dilated cardiomyopathy without severe skeletal myopathy
ConclusionsDMD-associated DCM without severe skeletal myopathy is characterized by incomplete penetrance but high risk of MACE, including progression to end-stage heart failure and ventricular arrhythmias. DCM onset is the major determinant of prognosis with similar survival regardless of the presence of skeletal myopathy.
Source: European Journal of Heart Failure - June 9, 2021 Category: Cardiology Authors: Maria A. Restrepo ‐Cordoba, Karim Wahbi, Anca R. Florian, Juan Jiménez‐Jáimez, Luisa Politano, Michael Arad, Vicente Climent‐Paya, Ana Garcia‐Alvarez, Rasmus B. Hansen, José M. Larrañaga‐Moreira, Milos Kubanek, Luis R. Lopes, And Tags: Research Article Source Type: research

Amyloid myopathy: expanding the clinical spectrum of transthyretin amyloidosis —case report and literature review
AbstractWe identified two patients with transthyretin (ATTR) amyloid myopathy (one ATTR variant amyloidosis, ATTRv; one wild-type ATTR amyloidosis, ATTRwt). Myopathy was the initial manifestation in ATTRwt, whereas it followed neuropathy and cardiomyopathy in ATTRv. The ATTRwt patient showed muscular tracer uptake on99mTc-DPD planar scintigraphy at the time of initial diagnosis, consistent with ATTR amyloid myopathy. The ATTRv patient underwent heart transplantation because of progressive heart failure. Within the next two years, progressive myopathic symptoms and extracardiac tracer uptake on99mTc-DPD planar scintigraphy ...
Source: Journal of Nuclear Cardiology - May 17, 2022 Category: Nuclear Medicine Source Type: research

Telbivudine in liver transplant recipients: Renal protection does not overcome the risk of polyneuropathy and myopathy
In conclusion, although it seems to have a favorable effect in the improvement of renal function and to be effective in the prevention of HBV recurrence, the high risk of polyneuropathy and myopathy hamper the use of telbivudine in LT recipients. This article is protected by copyright. All rights reserved.
Source: Liver Transplantation - April 2, 2015 Category: Transplant Surgery Authors: Ilker Turan, Suna Yapali, Fikret Bademkiran, Timur Kose, Soner Duman, Murat Sozbilen, Fulya Gunsar, Galip Ersoz, Ulus Salih Akarca, Omer Ozutemiz, Zeki Karasu Tags: Original Articles Source Type: research

Clinicopathologic Profiles of Sporadic Late-Onset Nemaline Myopathy: Practical Importance of Anti-{alpha}-Actinin Immunostaining
Discussion SLONM is a treatable myopathy with ASCT or traditional immunotherapy, especially when combined with steroids and immunosuppressants. Anti–α-actinin immunostaining is the most reliable pathologic marker to identify rod-bearing fibers, and it should be performed routinely in adult patients with undiagnosed nonnecrotic myopathies.
Source: Neurology Neuroimmunology and Neuroinflammation - May 17, 2022 Category: Neurology Authors: Zhao, B., Dai, T., Zhao, D., Ma, X., Zhao, C., Li, L., Sun, Y., Zhang, Y., Yan, Y., Lu, J.-Q., Liu, F., Yan, C. Tags: MRI, All Immunology, Autoimmune diseases, All Clinical Neurology, Muscle disease Research Article 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

Effect of the route of stem cell transplantation on its therapeutic potential on induced myopathy in rats: a histological and immunohistochemical study
Conclusion: Mesenchymal stem cells administered either intramuscularly or intravenously have therapeutic potentials for statin-induced myopathy. However, intramuscular route is more effective.
Source: Egyptian Journal of Histology - March 1, 2016 Category: Cytology Tags: Original articles Source Type: research

Gut-muscle axis and sepsis-induced myopathy: The potential role of gut microbiota
Biomed Pharmacother. 2023 May 6;163:114837. doi: 10.1016/j.biopha.2023.114837. Online ahead of print.ABSTRACTSepsis is described as an immune response disorder of the host to infection in which microorganisms play a non-negligible role. Most survivors of sepsis experience ICU-acquired weakness, also known as septic myopathy, characterized by skeletal muscle atrophy, weakness, and irreparable damage/regenerated or dysfunctional. The mechanism of sepsis-induced myopathy is currently unclear. It has been believed that this state is triggered by circulating pathogens and their related harmful factors, leading to impaired muscl...
Source: Biomedicine and pharmacotherapy = Biomedecine and pharmacotherapie - May 8, 2023 Category: Drugs & Pharmacology Authors: Yukun Liu Ligang Xu Zhaohui Yang Dongfang Wang Tianyu Li Fan Yang Zhanfei Li Xiangjun Bai Yuchang Wang Source Type: research

Polyglucosan body myopathy caused by defective ubiquitin ligase RBCK1
We describe ten patients from eight families with childhood or juvenile onset of myopathy, eight of whom also had rapidly progressive cardiomyopathy requiring heart transplant in four. The patients were homozygous or compound heterozygous for missense or truncating mutations in the ubiquitin ligase RBCK1 and had extensive polyglucosan accumulation in skeletal muscle and in the heart in cases of cardiomyopathy. We conclude that RBCK1 deficiency is a frequent cause of polyglucosan storage myopathy associated with progressive muscle weakness and cardiomyopathy. ANN NEUROL 2013. © 2013 American Neurological Association
Source: Annals of Neurology - June 24, 2013 Category: Neurology Authors: Johanna Nilsson, Benedikt Schoser, Pascal Laforet, Ognian Kalev, Christopher Lindberg, Norma B. Romero, Marcela Dávila López, Hasan O. Akman, Karim Wahbi, Stephan Iglseder, Christian Eggers, Andrew G. Engel, Salvatore DiMauro, Anders Oldfors Tags: Brief Communication Source Type: research

Sporadic late onset nemaline myopathy and immunoglobulin deposition disease
Discussion: We speculate that deposition of light and heavy chains, rather than nemaline bodies, has myotoxic effects on skeletal muscle. © 2013 Wiley Periodicals, Inc.
Source: Muscle and Nerve - July 19, 2013 Category: Internal Medicine Authors: Kathrin Doppler, Stefan Knop, Hermann Einsele, Claudia Sommer, Carsten Wessig Tags: Case of the Month 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