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Total 224 results found since Jan 2013.

Protracted Febrile Myalgia Syndrome in a Kidney Transplant Recipient With Familial Mediterranean Fever.
Abstract Drug-induced toxic myopathy is a complication of familial Mediterranean fever in patients who receive colchicine, especially when combined with cyclosporine. Protracted febrile myalgia syndrome is a severe form of familial Mediterranean fever. A 34-year-old man who had familial Mediterranean fever for > 15 years developed kidney failure because of secondary amyloidosis. He received living-unrelated-donor kidney transplant that functioned normally. He was on colchicine prophylaxis that was continued after transplant, and he received immunosuppression induction with antithymocyte globulin and maintenance...
Source: Experimental and Clinical Transplantation : official journal of the Middle East Society for Organ Transplantation - March 19, 2014 Category: Transplant Surgery Authors: Abdel Halim MM, Al-Otaibi T, Donia F, Gheith O, Asif P, Nawas M, Rashad RH, Said T, Nair P, Nampoory N Tags: Exp Clin Transplant Source Type: research

Statins side effects are minimal, study argues
ConclusionThis meta-analysis pooled results from 29 studies and has shown a very small increased risk of newly diagnosed diabetes mellitus. This is the same as the decreased risk of any cause of death in people taking statins, compared to placebo, to prevent a heart attack or stroke.The researchers point out some limitations to the meta-analysis: Each study did not report on all of the side effects, meaning that for each category of side effect, the number of participants differed. The side effect categories were only included if at least 500 people had reported suffering from it. This means there may be numerous other si...
Source: NHS News Feed - March 13, 2014 Category: Consumer Health News Tags: Heart/lungs Medication Source Type: news

Full‐length dysferlin expression driven by engineered human dystrophic blood derived CD133+ stem cells
The protein dysferlin is abundantly expressed in skeletal and cardiac muscles, where its main function is membrane repair. Mutations in the dysferlin gene are involved in two autosomal recessive muscular dystrophies: Miyoshi myopathy and limb‐girdle muscular dystrophy type 2B. Development of effective therapies remains a great challenge. Strategies to repair the dysferlin gene by skipping mutated exons, using antisense oligonucleotides (AONs), may be suitable only for a subset of mutations, while cell and gene therapy can be extended to all mutations. AON‐treated blood‐derived CD133+ stem cells isolated from patients...
Source: FEBS Journal - October 8, 2013 Category: Research Authors: Mirella Meregalli, Claire Navarro, Clementina Sitzia, Andrea Farini, Erica Montani, Nicolas Wein, Paola Razini, Cyriaque Beley, Letizia Cassinelli, Daniele Parolini, Marzia Belicchi, Dario Parazzoli, Luis Garcia, Yvan Torrente Tags: Original Article Source Type: research

P.15.9 An X-linked dominant mutation in LAMP2 causing Danon disease associated with myotonia expanding the spectrum
This report describe a family with Danon disease, a rare X-linked dominant condition, but an important differential diagnosis for patient with cardiomyopathy, myopathy and learning difficulty, having a strong family history of cardiomyopathy. While skeletal muscles biopsy showed vacuolar myopathy, these abnormal vacuolar changes also extended to the cardiac muscles. Diagnostic confirmation is important when counseling the long term prognosis for this family. While symptomatic treatment is available for the heart failure, with a progressive course of cardiomyopathy the ultimate cure is heart transplantation.
Source: Neuromuscular Disorders - September 16, 2013 Category: Neurology Authors: S.H.S. Chan, A. Kan, H.F. Tse Source Type: research

Full‐Length Dysferlin Expression Driven by Engineered Human Dystrophic Blood‐Derived CD133+ Stem Cells
This article is protected by copyright. All rights reserved.
Source: FEBS Journal - September 13, 2013 Category: Research Authors: Mirella Meregalli, Claire Navarro, Clementina Sitzia, Andrea Farini, Erica Montani, Nicolas Wein, Paola Razini, Cyriaque Beley, Letizia Cassinelli, Daniele Parolini, Marzia Belicchi, Dario Parazzoli, Luis Garcia, Yvan Torrente Tags: Original Article Source Type: research

P.15.9 An X-linked dominant mutation in LAMP2 causing Danon disease associated with myotonia expanding the spectrum
This report describe a family with Danon disease, a rare X-linked dominant condition, but an important differential diagnosis for patient with cardiomyopathy, myopathy and learning difficulty, having a strong family history of cardiomyopathy. While skeletal muscles biopsy showed vacuolar myopathy, these abnormal vacuolar changes also extended to the cardiac muscles. Diagnostic confirmation is important when counseling the long term prognosis for this family. While symptomatic treatment is available for the heart failure, with a progressive course of cardiomyopathy the ultimate cure is heart transplantation.
Source: Neuromuscular Disorders - September 7, 2013 Category: Neurology Authors: S.H.S. Chan, A. Kan, H.F. Tse Source Type: research

Cardio Notes: Curbing Heart Worries After Liver Transplant
(MedPage Today) -- More intense exercise after a liver transplant may stave off metabolic syndrome, at least in some patients. Also, a possible genetic basis for statin-related myopathy and news about a peripheral stent and a heart valve.
Source: MedPage Today State Required CME - August 12, 2013 Category: Consumer Health News Source Type: news

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

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

Treatability of sporadic late onset nemaline myopathy.
This article presents the case of a 53-year-old man with a 4-year history of SLOMN with MGUS in which administration of intravenous immunoglobulin therapy (IVIG) was not successful in reversing gammopathy, histopathological changes or clinical symptoms. PMID: 23836301 [PubMed - as supplied by publisher]
Source: Der Nervenarzt - July 10, 2013 Category: Neurology Authors: Hanisch F, Schneider I, Müller T, Romeike BF, Stoltenburg G, Holzhausen HJ, Zierz S Tags: Nervenarzt 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

Mesenchymal Stromal Cells Promote Bowel Regeneration after Intestinal Transplantation: Myth to Mucosa
This article is protected by copyright. All rights reserved.
Source: Transplant International - June 15, 2013 Category: Transplant Surgery Authors: C.D.L Ceresa, R.N. Ramcharan, P.J. Friend, A. Vaidya Tags: Letter to the Editor Source Type: research

Barth syndrome
First described in 1983, Barth syndrome (BTHS) is widely regarded as a rare X-linked genetic disease characterised by cardiomyopathy (CM), skeletal myopathy, growth delay, neutropenia and increased urinary excretion of 3-methylglutaconic acid (3-MGCA). Fewer than 200 living males are known worldwide, but evidence is accumulating that the disorder is substantially under-diagnosed. Clinical features include variable combinations of the following wide spectrum: dilated cardiomyopathy (DCM), hypertrophic cardiomyopathy (HCM), endocardial fibroelastosis (EFE), left ventricular non-compaction (LVNC), ventricular arrhythmia, sudd...
Source: Orphanet Journal of Rare Diseases - February 12, 2013 Category: Internal Medicine Authors: Sarah ClarkeAnn BowronIris GonzalezSarah GrovesRuth Newbury-EcobNicol ClaytonRobin MartinBeverly Tsai-GoodmanVanessa GarrattMichael AshworthValerie BowenKatherine McCurdyMichaela DaminCarolyn SpencerMatthew TothRichard KelleyColin Steward Source Type: research

Posterior reversible encephalopathy syndrome in cystinosis
Cystinosis is a rare autosomal recessive disorder (CTNS gene on chromosome 17p13) based on a defective transport of cystine out of lysosomes leading to systemic accumulation of cystine. With an incidence of about 1 in 100,000 live births there are currently about 300–400 cases in the USA . Main symptoms in childhood include end-stage renal disease, secondary Fanconi syndrome, hypothyroidism and photophobia. Late complications occurring in adulthood include pulmonary dysfunction, myopathy and male hypogonadism. Neurological complications are rare, occur later and can include cerebral atrophy/calcifications, mental deterio...
Source: Clinical Neurology and Neurosurgery - July 16, 2012 Category: Neurosurgery Authors: Lars Marquardt, Joji B. Kuramatsu, Julie Roesch, Tobias Engelhorn, Hagen B. Huttner Tags: Case reports Source Type: research