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Total 224 results found since Jan 2013.

Inflammatory myopathies after allogeneic stem cell transplantation
Discussion: Among recipients of allo ‐SCT, weakness is common, and the incidence of IM is increased. Histopathological diagnoses are varied, and we report findings of necrotizing myopathy and anti‐MDA5‐associated DM.Muscle Nerve, 2018
Source: Muscle and Nerve - November 20, 2018 Category: Internal Medicine Authors: Julia New ‐Tolley, Caroline Smith, Barbara Koszyca, Sophia Otto, Adam Maundrell, Peter Bardy, Devendra Hiwase, Agnes S. M. Yong, Ian Lewis, Vidya Limaye Tags: Clinical Research Source Type: research

Skeletal Muscle Myopathy in Heart Failure: the Role of Ejection Fraction
AbstractPurpose of ReviewThis review summarizes: (1) the structural and functional features coupled with pathophysiological factors responsible of skeletal muscle myopathy (SMM) in both heart failure with reduced (HFrEF) and preserved (HFpEF) ejection fraction and (2) the role of exercise as treatment of SMM in these HF-related phenotypes.Recent FindingsThe recent literature showed two main phenotypes of heart failure (HF): (1) HFrEF primarily due to a systolic dysfunction of the left ventricle and (2) HFpEF, mainly related to a diastolic dysfunction. Exercise intolerance is one of most disabling symptoms of HF and it is s...
Source: Current Cardiology Reports - September 26, 2018 Category: Cardiology Source Type: research

Clinical Findings and Prognosis of Danon Disease. An Analysis of the Spanish Multicenter Danon Registry
ConclusionsThe clinical characteristics of DD differ substantially from traditional descriptions: age at presentation of DD is older, the disease is not multisystemic in women, and pre-excitation is infrequent.ResumenIntroducción y objetivosLa enfermedad de Danon (ED) es una enfermedad producida por mutaciones en el gen LAMP2. Se la considera una enfermedad multisistémica caracterizada por miocardiopatía hipertrófica con preexcitación e hipertrofia extrema, discapacidad intelectual, miopatía, presentación infantil y peor pronóstico en varones. Hay pocas series que permitan conocer las características clínicas y e...
Source: Revista Espanola de Cardiologia - August 12, 2018 Category: Cardiology Source Type: research

BAG3-related myofibrillar myopathy requiring heart transplantation for restrictive cardiomyopathy
Publication date: June 2018Source: Molecular Genetics and Metabolism Reports, Volume 15Author(s): Josef Finsterer, Sinda Zarrouk-Mahjoub
Source: Molecular Genetics and Metabolism Reports - July 10, 2018 Category: Genetics & Stem Cells Source Type: research

Atypical reaction to anesthesia in Duchenne/Becker muscular dystrophy
ConclusionOn preanesthetic assessment, the history of delayed motor development, as well as clinical and/or laboratory signs of myopathy, should encourage neurological evaluation, aiming at diagnosing subclinical myopathies and planning the necessary care to prevent anesthetic complications. Duchenne/Becker muscular dystrophy, although it does not increase susceptibility to MH, may lead to atypical fatal reactions in anesthesia.ResumoJustificativa/objetivosDistrofia muscular de Duchenne/Becker afeta a musculatura esquelética e leva a fraqueza muscular progressiva e risco de reações atípicas anestésicas após exposiç...
Source: Brazilian Journal of Anesthesiology - July 10, 2018 Category: Anesthesiology Source Type: research

BAG3-related myofibrillar myopathy requiring heart transplantation for restrictive cardiomyopathy
Publication date: June 2018Source: Molecular Genetics and Metabolism Reports, Volume 15Author(s): Josef Finsterer, Sinda Zarrouk-Mahjoub
Source: Molecular Genetics and Metabolism Reports - July 6, 2018 Category: Genetics & Stem Cells Source Type: research

Atypical reaction to anesthesia in Duchenne/Becker muscular dystrophy
ConclusionOn preanesthetic assessment, the history of delayed motor development, as well as clinical and/or laboratory signs of myopathy, should encourage neurological evaluation, aiming at diagnosing subclinical myopathies and planning the necessary care to prevent anesthetic complications. Duchenne/Becker muscular dystrophy, although it does not increase susceptibility to MH, may lead to atypical fatal reactions in anesthesia.ResumoJustificativa/objetivosDistrofia muscular de Duchenne/Becker afeta a musculatura esquelética e leva a fraqueza muscular progressiva e risco de reações atípicas anestésicas após exposiç...
Source: Brazilian Journal of Anesthesiology - July 5, 2018 Category: Anesthesiology 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

Distinct Clinical and Genetic Findings in Iranian Patients With Glycogen Storage Disease Type 3
Conclusions: This is the first comprehensive report of patients with GSD-III in Iran with 2 uncommon clinical presentations and 5 novel mutations in the AGL gene.
Source: Journal of Clinical Neuromuscular Disease - May 26, 2018 Category: Neurology Tags: Original Article Source Type: research

A new phenotype of severe dilated cardiomyopathy associated with a mutation in the LAMP2 gene previously known to cause hypertrophic cardiomyopathy in the context of Danon disease.
In this study, we report two patients, twin sisters, referred to our hospital for end stage heart failure due to dilated cardiomyopathy, requiring heart transplant evaluation. Genetic analysis, using targeted next generation sequencing, showed that the proband carried a LAMP2 missense variant, c.928G > A. The mutation was also detected in her twin sister by sanger sequencing. This variant has already been reported by other investigators and was correlated with the clinical triad of Danon disease i.e. hypertrophic cardiomyopathy, mental retardation and peripheral myopathy. The new phenotype of dilated cardiomyopathy ...
Source: European Journal of Medical Genetics - May 10, 2018 Category: Genetics & Stem Cells Authors: Gourzi P, Pantou MP, Gkouziouta A, Kaklamanis L, Tsiapras D, Zygouri C, Constantoulakis P, Adamopoulos S, Degiannis D Tags: Eur J Med Genet Source Type: research

Ambulatory veno-venous extracorporeal membrane oxygenation.
Authors: Lindholm JA Abstract Veno-venous extracorporeal membrane oxygenation (VV ECMO) is used for support in patients with severe respiratory failure. The method allows extracorporeal gas exchange and may replace the patient's lung function for weeks and even years. ECMO is not a contraindication for lung transplant. The most important factor for a good outcome is the physiological status of the patient when accepted for transplantation. Ambulatory ECMO makes it possible for the patient to exercise and walk, and provides the best outcome for high risk patients in severe respiratory failure. Ambulatory ECMO is saf...
Source: Journal of Thoracic Disease - May 9, 2018 Category: Respiratory Medicine Tags: J Thorac Dis Source Type: research

Canakinumab Treatment Effective for Familial Mediterranean Fever
Canakinumab may be a useful first-line treatment for renal transplant recipients with familial Mediterranean fever (FMF), according to recent research. Immunosuppressive drugs can interact with colchicine, the standard first-line treatment for FMF, and increase the incidence of side effects, such as diarrhea and myopathy...
Source: The Rheumatologist - April 23, 2018 Category: Rheumatology Authors: Lara C. Pullen, PhD Tags: Conditions canakinumab Familial Mediterranean fever kidney transplant Renal transplantation Source Type: research

Autologous Bone Marrow Transplantation for Polymyositis Combined with Myasthenia Gravis and Aplastic Anemia: A Case Report
This is the first report about a patient with concomitant polymyositis (PM), myasthenia gravis (MG), and aplastic anemia (AA). A 54-year-old male developed myalgia and muscle weakness, which gradually progressed over 2 months. He was persistently affected by MG and AA. Brachium magnetic resonance imaging showed increased signal intensity in the left triceps and deltoid muscles on short tau inversion recovery images. A muscle biopsy examination revealed perifascicular atrophication and inflammatory myopathy. We diagnosed the patient with PM combined with MG and AA. He was successfully treated with an autologous bone marrow ...
Source: Case Reports in Neurology - April 17, 2018 Category: Neurology Source Type: research

BAG3-related myofibrillar myopathy requiring heart transplantation for restrictive cardiomyopathy
Publication date: June 2018 Source:Molecular Genetics and Metabolism Reports, Volume 15 Author(s): Josef Finsterer, Sinda Zarrouk-Mahjoub
Source: Molecular Genetics and Metabolism Reports - February 27, 2018 Category: Genetics & Stem Cells Source Type: research