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Total 34 results found since Jan 2013.

Higher incidence of vasodilator-induced left ventricular cavity dilation by PET when compared to treadmill exercise-ECHO in hypertrophic cardiomyopathy
ConclusionPET-LVCD reflects greater degree of myopathy and microvascular dysfunction in HCM. Differences in the cardiac effects of exercise and vasodilators and timing of stress-image acquisition could underlie discordance in ischemic EKG changes and LVCD by ECHO and PET, in HCM.
Source: Journal of Nuclear Cardiology - November 19, 2018 Category: Nuclear Medicine Source Type: research

Acute heart failure and rhabdomyolysis: a clue for the diagnosis of polymyositis with cardiac involvement.
We report the case of a 51-year-old male, with history of complete heart block, which required pacemaker implantation, and subsequently heart failure, presenting to the emergency department with worsening of dyspnea and peripheral edema. He was admitted to the Internal Medicine ward with acute heart failure and started on diuretic therapy. During hospitalization, he was discovered to have marked rhabdomyolysis. Examination revealed proximal symmetrical muscle weakness and arthralgia. The immunological study, electromyography and muscle biopsy confirmed polymyositis. The patient was started on prednisolone with clinical imp...
Source: Reumatismo - August 3, 2017 Category: Rheumatology Authors: Pinto-Lopes P, Carneiro-Leão L, Morais R, Pinheiro J, Vieira Lopes A, Bettencourt P Tags: Reumatismo Source Type: research

A BAG3 Coding Variant in Mice Determines Susceptibility to Ischemic Limb Muscle Myopathy by Directing Autophagy.
Conclusions -Taken together, our data demonstrate that genetic variation in BAG3 plays an important role in the prevention of ischemic tissue necrosis. These results highlight a pathway that preserves tissue survival and muscle function in the setting of ischemia. PMID: 28442482 [PubMed - as supplied by publisher]
Source: Circulation - April 25, 2017 Category: Cardiology Authors: McClung JM, McCord TJ, Ryan TE, Schmidt CA, Green TD, Southerland KW, Reinardy JL, Mueller SB, Venkatraman TN, Lascola CD, Keum S, Marchuk DA, Spangenburg EE, Dokun AO, Annex BH, Kontos CD Tags: Circulation Source Type: research

Mitochondrial therapy improves limb perfusion and myopathy following hindlimb ischemia
Critical limb ischemia is a devastating manifestation of peripheral arterial disease with no effective strategies for improving morbidity and mortality outcomes. We tested the hypothesis that cellular mitochondrial function is a key component of limb pathology and that improving mitochondrial function represents a novel paradigm for therapy. BALB/c mice were treated with a therapeutic mitochondrial-targeting peptide (MTP-131) and subjected to limb ischemia (HLI). Compared to vehicle control, MTP-131 rescued limb muscle capillary density and blood flow (64.7±11% of contralateral vs.
Source: Journal of Molecular and Cellular Cardiology - May 31, 2016 Category: Cytology Authors: Terence E. Ryan, Cameron A. Schmidt, Rick J. Alleman, Alvin M. Tsang, Thomas D. Green, P. Darrell Neufer, David A. Brown, Joseph M. McClung Tags: Short communication Source Type: research

Peripheral vein injection of AAV8-MTM1 leads to long-term survival and correction of severe muscle pathology in a canine model of X-linked myotubular myopathy: Results from a dose escalation study
Mutations in the myotubularin gene (MTM1) result in X-linked myotubular myopathy (XLMTM), a fatal pediatric disease of the skeletal muscle characterized by small centrally nucleated myofibers containing abnormal mitochondrial accumulations. Patients typically present with severe hypotonia and respiratory failure. Previous studies in Mtm1 mutant mice demonstrated efficacy of gene therapy to treat the disease. We also previously reported that administration of an adeno-associated virus serotype 8 (AAV8) vector expressing myotubularin under the muscle-specific desmin promoter via high pressure regional hind limb perfusion pro...
Source: Neuromuscular Disorders - September 11, 2015 Category: Neurology Authors: D. Mack, K. Poulard, M. Goddard, J. Snyder, R. Grange, J. Doering, J. Strande, V. Latournerie, P. Veron, L. Yang, L. Buscara, C. Le Bec, S. Martin, M. O'Callaghan, F. Mingozzi, A. Beggs, M. Lawlor, F. Mavilio, M. Childers, A. Buj-Bello Source Type: research

The Emerging Role of Cardiovascular Magnetic Resonance Imaging in the Evaluation of Metabolic Cardiomyopathies
Horm Metab ResDOI: 10.1055/s-0035-1555913The aim of this review is to discuss the role of Cardiovascular Magnetic Resonance (CMR) in the diagnosis, risk stratification, and follow-up of metabolic cardiomyopathies. The classification of myocardial diseases, proposed by WHO/ISFC task force, distinguished specific cardiomyopathies, caused by metabolic disorders, into 4 types: 1) endocrine disorders, 2) storage or infiltration disorders (amyloidosis, hemochromatosis and familial storage disorders), 3) nutritional disorders (Kwashiorkor, beri-beri, obesity, and alcohol), and 4) diabetic heart. Thyroid disease, pheochromocytoma,...
Source: Hormone and Metabolic Research - July 21, 2015 Category: Endocrinology Authors: Mavrogeni, S.Markousis-Mavrogenis, G.Markussis, V.Kolovou, G. Tags: Review Source Type: research

The Emerging Role of Cardiovascular Magnetic Resonance Imaging in the Evaluation of Metabolic Cardiomyopathies.
Abstract The aim of this review is to discuss the role of Cardiovascular Magnetic Resonance (CMR) in the diagnosis, risk stratification, and follow-up of metabolic cardiomyopathies. The classification of myocardial diseases, proposed by WHO/ISFC task force, distinguished specific cardiomyopathies, caused by metabolic disorders, into 4 types: 1) endocrine disorders, 2) storage or infiltration disorders (amyloidosis, hemochromatosis and familial storage disorders), 3) nutritional disorders (Kwashiorkor, beri-beri, obesity, and alcohol), and 4) diabetic heart. Thyroid disease, pheochromocytoma, and growth hormone exc...
Source: Diabetes Metab - July 21, 2015 Category: Endocrinology Authors: Mavrogeni S, Markousis-Mavrogenis G, Markussis V, Kolovou G Tags: Horm Metab Res Source Type: research

MELAS syndrome: Clinical manifestations, pathogenesis, and treatment options
Publication date: Available online 15 June 2015 Source:Molecular Genetics and Metabolism Author(s): Ayman W. El-Hattab , Adekunle M. Adesina , Jeremy Jones , Fernando Scaglia Mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS) syndrome is one of the most frequent maternally inherited mitochondrial disorders. MELAS syndrome is a multi-organ disease with broad manifestations including stroke-like episodes, dementia, epilepsy, lactic acidemia, myopathy, recurrent headaches, hearing impairment, diabetes, and short stature. The most common mutation associated with MELAS syndrome is the m.3243A&a...
Source: Molecular Genetics and Metabolism - June 27, 2015 Category: Genetics & Stem Cells Source Type: research

Vasodilatation of multiple cerebral arteries in early stage of stroke-like episode with MELAS
We describe a patient with mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS), with multiple cerebral vasodilatations in a stroke-like episode visualised by using magnetic resonance angiography (MRA) and CT angiography (CTA). In the acute stroke-like episode stage, T2-weighted and fluid-attenuated inversion recovery MRI showed high-intensity areas in the left occipital area. In addition, MRA and CTA revealed prominent dilatation of the left posterior cerebral artery and temporal branches of the middle cerebral artery with focal hyperperfusions using CT perfusion (CTP) that corresponde...
Source: Journal of Clinical Neuroscience - January 14, 2015 Category: Neuroscience Source Type: research

Pulmonary arterial hypertension-related myopathy: An overview of current data and future perspectives
Conclusions Skeletal muscles of PAH patients show a wide spectrum of cellular abnormalities that finally culminate in muscle atrophy and reduced contractility. Exercise training improves muscle function and bears a positive impact on clinical outcomes of PAH patients.
Source: Nutrition, Metabolism and Cardiovascular Diseases - November 6, 2014 Category: Nutrition Source Type: research

G.p.41
Mutations in the myotubularin gene (MTM1) result in X-linked myotubular myopathy (XLMTM), a fatal pediatric disease of skeletal muscle characterized by small centrally nucleated myofibers containing abnormal mitochondrial accumulations. Patients typically present with severe hypotonia and respiratory failure. Previous local studies in Mtm1-mutant mice demonstrated potential efficacy of gene therapy to treat the disease. We recently reported that administration of adeno-associated virus serotype 8 (AAV8) vector expressing myotubularin under the muscle-specific desmin promoter, delivered systemically in myotubularin deficien...
Source: Neuromuscular Disorders - October 1, 2014 Category: Neurology Authors: D.L. Mack, M. Goddard, J.M. Snyder, J. Doering, M.W. Lawlor, P. Moullier, M. O’Callaghan, A.H. Beggs, F. Mavilio, K. Poulard, V. Latournerie, A. Buj-Bello, Source Type: research

Intravoxel incoherent motion magnetic resonance imaging findings in the acute phase of MELAS: a case report
ConclusionThese findings imply a breakdown of autoregulation with hyperperfusion and vasogenic edema during the acute phase of MELAS, as described in previous reports. IVIM imaging is a valuable, noninvasive tool that simultaneously quantifies perfusion and diffusion parameters. We report a patient in the acute phase of MELAS who appears to show characteristic radiological findings using IVIM imaging. This type of imaging is a valuable technique that allows noninvasive and simultaneous measurement of both regional perfusion and diffusion.
Source: Brain and Behavior - September 11, 2014 Category: Neurology Authors: Ryuji Uehara, Koji Yamashita, Akio Hiwatashi, Osamu Togao, Kazufumi Kikuchi, Jun Yokoyama, Dai Matsuse, Takashi Yoshiura, Hiroshi Honda Tags: Methods Source Type: research

G.P.41: Canine X-linked myotubular myopathy: A dose-finding study of systemic AAV8-MTM1 effects on muscle strength, gait, respiration, neuromuscular function and survival
Mutations in the myotubularin gene (MTM1) result in X-linked myotubular myopathy (XLMTM), a fatal pediatric disease of skeletal muscle characterized by small centrally nucleated myofibers containing abnormal mitochondrial accumulations. Patients typically present with severe hypotonia and respiratory failure. Previous local studies in Mtm1-mutant mice demonstrated potential efficacy of gene therapy to treat the disease. We recently reported that administration of adeno-associated virus serotype 8 (AAV8) vector expressing myotubularin under the muscle-specific desmin promoter, delivered systemically in myotubularin deficien...
Source: Neuromuscular Disorders - September 4, 2014 Category: Neurology Authors: D.L. Mack, M. Goddard, J.M. Snyder, J. Doering, M.W. Lawlor, P. Moullier, M. O’Callaghan, A.H. Beggs, F. Mavilio, K. Poulard, V. Latournerie, A. Buj-Bello, M. Childers Source Type: research