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Total 119 results found since Jan 2013.

Different Clinical Manifestations of MELAS in a Single Family (P5.073)
Conclusions: In 1992, diagnostic criteria for MELAS included symptom onset prior to 40-years of age. Numerous case reports have found patients presenting with MELAS after age 40 with genetic confirmation of the mutation. Today, the criteria have been eased and a diagnosis of MELAS should be considered in the appropriate clinical setting at any age.Disclosure: Dr. Koshy has nothing to disclose. Dr. Kamins has nothing to disclose. Dr. Mishra has nothing to disclose. Dr. Flippen has received personal compensation in an editorial capacity for the Journal of Graduate Medical Education and UpToDate. Dr. Singh has nothing to disclose.
Source: Neurology - April 3, 2016 Category: Neurology Authors: Koshy, S., Kamins, J., Mishra, S., Flippen, C., Singh, S. Tags: Hereditary Muscle Diseases: Genetics and Phenotype Source Type: research

A 6-Year-Old With Leg Cramps
A 6-year-old girl presented with a history of leg pain and cramping that progressively worsened over a 2- to 3-week period of time. Her examination was notable for normal vital signs, limited range of motion of her left hip, and a limp. Inflammatory markers were slightly elevated, but the serum electrolytes, calcium, and magnesium, complete blood cell count and differential, and creatine kinase level were normal. She was hospitalized for further diagnostic evaluation and was noted to have abnormal muscle movements classified as myokymia (continuous involuntary quivering, rippling, or undulating movement of muscles). Electr...
Source: PEDIATRICS - October 1, 2015 Category: Pediatrics Authors: Jenssen, B. P., Lautz, A. J., Orthmann-Murphy, J. L., Yum, S. W., Waanders, A., Fox, E. Tags: Medical Education Special Article Source Type: research

Mortality in children with juvenile dermatomyositis: two decades of experience from a single tertiary care centre in North India
Abstract Survival and outcomes have improved considerably among patients with juvenile dermatomyositis (JDM) in the west. However, mortality continues to be high in the developing world. There is paucity of literature on this aspect of JDM from developing countries. We reviewed case files of all patients with JDM registered in the Pediatric Rheumatology Clinic, Advanced Pediatrics Centre at the Post Graduate Institute of Medical Education and Research, Chandigarh, during the period 1993–2013. Seventy-six children were diagnosed to have inflammatory myopathy during this period. Of these, 63 had JDM, 3 had polymy...
Source: Clinical Rheumatology - October 10, 2014 Category: Rheumatology Source Type: research

Dermatomyositis
(DM) is an idiopathic inflammatory myopathy with unique cutaneous features. When it appears in adulthood, it may foreshadow several different forms of cancer. Up to 25% of DM patients will go on to develop a malignancy, and, therefore, early recognition and screening are critical. The purpose of this article is to provide an overview of the signs and symptoms of DM, guidance in diagnostic testing and treatment of the disease, and recommendations related to preventive screening in order to reduce morbidity and mortality associated with related systemic disease.
Source: The Journal for Nurse Practitioners - October 1, 2014 Category: Nursing Authors: Deborah Ruhlman, Christina Otten, Christine Colella Tags: Continuing Education Source Type: research

Parallel Sequencing of 26 Genes Responsible for Metabolic Myopathy and Rhabdomyolysis (P1.337)
CONCLUSIONS: Parallel sequence analysis of a group of target genes by MPS greatly facilitates the definitive molecular diagnosis of metabolic myopathies in a time and cost effective manner. This NGS based panel testing maybe considered as the first tier analysis for patients with suspected metabolic myopathy. Study Supported by:Disclosure: Dr. Tian has nothing to disclose. Dr. Wang has nothing to disclose. Dr. Milone has nothing to disclose. Dr. Feng has nothing to disclose. Dr. Zhang has nothing to disclose. Dr. Wong has nothing to disclose.
Source: Neurology - April 9, 2014 Category: Neurology Authors: Tian, X., Wang, J., Milone, M., Feng, Y., Zhang, V., Wong, L.-j. Tags: Neurology Education and Methodology Source Type: research

Comprehensive Diagnosis of Congenital Neuromuscular Disorders by Next Generation Sequencing of 236 Genes with Deep Coverage (P1.338)
CONCLUSIONS: Target gene capture/deep MPS approach greatly improves the diagnostic yield of congenital NMD. It also demonstrate the power of NGS to confirm and expand clinical phenotypes and genotypes of the extremely heterogeneous NMD. Study Supported by:Disclosure: Dr. Tian has nothing to disclose. Dr. Liang has nothing to disclose. Dr. Feng has nothing to disclose. Dr. Wang has nothing to disclose. Dr. Zhang has nothing to disclose. Dr. Wong has nothing to disclose. Dr. Jong has nothing to disclose.
Source: Neurology - April 9, 2014 Category: Neurology Authors: Tian, X., Liang, W.-C., Feng, Y., Wang, J., Zhang, V., Wong, L.-j., Jong, Y.-J. Tags: Neurology Education and Methodology Source Type: research

Diagnostic approach and differential diagnosis in patients with hypertrophied left ventricles
In daily clinical practice, cardiologists frequently encounter patients demonstrating left ventricular hypertrophy (LVH) of initially unknown origin. The exact diagnosis and differentiation of ‘pathological’ LVH—which occurs in, for example, hypertensive heart disease (HHD), hypertrophic cardiomyopathy (HCM), myocardial storage/infiltrative disease, or systemic diseases such as mitochondrial myopathy—from ‘physiological’ LVH (which occurs in athletes) is of paramount therapeutic and prognostic value. However, determination of the underlying aetiology of LVH—which is frequently defi...
Source: Heart - March 21, 2014 Category: Cardiology Authors: Yilmaz, A., Sechtem, U. Tags: Myocardial disease, Education in Heart, Hypertrophic cardiomyopathy, Drugs: cardiovascular system, Echocardiography, Hypertension, Clinical diagnostic tests, Metabolic disorders Source Type: research

SLCO1B1 Polymorphisms and Statin-Induced Myopathy
Clinical scenario Statins are 3-hydroxy-3-methylglutaryl coenzyme A (HMG-CoA) reductase inhibitors which reduce the risk of coronary events and death by lowering blood concentrations of low density lipoprotein cholesterol (LDL-c).1,2,3,4 They are generally regarded as safe and well tolerated. However, some patients experience adverse muscle symptoms; these are mostly relatively mild but, in rare cases, severe muscle damage with renal failure (rhabdomyolysis) may occur (reviewed in 5,6). Recently, an autoimmune form of necrotising myositis has also been identified as a rare statin-associated myopathy (reviewed in 7). There ...
Source: PLOS Currents Evidence on Genomic Tests - December 4, 2013 Category: Genetics & Stem Cells Authors: Alison Stewart Source Type: research

Simvastatin Impairs Exercise Training Adaptations
This study sought to determine if simvastatin impairs exercise training adaptations.BackgroundStatins are commonly prescribed in combination with therapeutic lifestyle changes, including exercise, to reduce cardiovascular disease risk in patients with metabolic syndrome. Statin use has been linked to skeletal muscle myopathy and impaired mitochondrial function, but it is unclear whether statin use alters adaptations to exercise training.MethodsThis study examined the effects of simvastatin on changes in cardiorespiratory fitness and skeletal muscle mitochondrial content in response to aerobic exercise training. Sedentary o...
Source: Journal of the American College of Cardiology: Cardiovascular Interventions - August 12, 2013 Category: Cardiology Source Type: research

Statins induce hyperglycaemia of uncertain importance
Commentary on: Ridker PM, Pradhan A, MacFadyen JG, et al.. Cardiovascular benefits and diabetes risks of statin therapy in primary prevention: an analysis from the JUPITER trial. Lancet 2012;380:565–71. Context Statins effectively reduce cardiovascular risk. Although generally safe, their use has been associated with muscle discomfort, myopathy, neuropathy and, rarely, rhadbomyolysis. Since February 2012, statin labels carry a new warning: their use is associated with elevated blood glucose levels. Whereas the mechanism remains unknown, several meta-analyses have substantiated the relationship between statin use and...
Source: Evidence-Based Medicine - July 5, 2013 Category: Internal Medicine Authors: Montori, V. M., Brito, J. P. Tags: EBM Aetiology, Smoking and tobacco, Clinical trials (epidemiology), Drugs: cardiovascular system, Neuromuscular disease, Hypertension, Diet, Musculoskeletal syndromes, Diabetes, Health education, Smoking Source Type: research

Simvastatin Impairs Exercise Training Adaptations
This study sought to determine if simvastatin impairs exercise training adaptations.Background: Statins are commonly prescribed in combination with therapeutic lifestyle changes, including exercise, to reduce cardiovascular disease risk in patients with metabolic syndrome. Statin use has been linked to skeletal muscle myopathy and impaired mitochondrial function, but it is unclear whether statin use alters adaptations to exercise training.Methods: This study examined the effects of simvastatin on changes in cardiorespiratory fitness and skeletal muscle mitochondrial content in response to aerobic exercise training. Sedenta...
Source: Journal of the American College of Cardiology - April 12, 2013 Category: Cardiology Authors: Catherine R. Mikus, Leryn J. Boyle, Sarah J. Borengasser, Douglas J. Oberlin, Scott P. Naples, Justin Fletcher, Grace M. Meers, Meghan Ruebel, M. Harold Laughlin, Kevin C. Dellsperger, Paul J. Fadel, John P. Thyfault Tags: Statin Treatment Source Type: research

Intermittent nondaily dosing strategies in patients with previous statin-induced myopathy.
CONCLUSIONS: Although areas of uncertainty remain, intermittent dosing (particularly with rosuvastatin and atorvastatin) in previously intolerant patients is a useful strategy to capitalize on the benefits of this therapy. Larger scale randomized trials are necessary to more clearly define the role of this strategy and the optimal choice of regimen. PMID: 23482733 [PubMed - in process]
Source: The Annals of Pharmacotherapy - March 1, 2013 Category: Drugs & Pharmacology Authors: Keating AJ, Campbell KB, Guyton JR Tags: Ann Pharmacother Source Type: research

Detection of Presymptomatically Latent Lesions Developing into Stroke-Like Episodes by Arterial Spin-Labeling Perfusion MRI in MELAS Patients (P03.162)
CONCLUSIONS: These findings suggest that regional ASL hyperperfusion in the presymptomatic phase precedes the appearance of upcoming stroke-like lesions, and that presymptomatic SEs had already occurred several months before the onset of clinical symptoms. ASL imaging has great potential for detecting presymptomatic stroke-like lesions and predicting the emergence of SEs.Supported by: In part by Grants-in-Aid for the Scientific Research on Innovative Areas from the Ministry of Education, Culture, Sports, Science and Technology of Japan and Young Scientists (B) from the Japan Society for the Promotion of Science, and the Re...
Source: Neurology - February 14, 2013 Category: Neurology Authors: Ikawa, M., Kimura, H., Muramatsu, T., Matsunaga, A., Tsujikawa, T., Yamamoto, T., Kosaka, N., Kinoshita, K., Yamamura, O., Hamano, T., Nakamoto, Y., Yoneda, M. Tags: P03 Cerebrovascular Disease III Source Type: research

Comprehensive Carrier Screening and Molecular Diagnostic Testing for Recessive Childhood Diseases
Clinical Scenarios The test is designed both for preconception carrier testing of couples wishing to start a family and for molecular diagnosis in children suspected of being affected by a recessive childhood disease. The published (research) version of the test included 448 childhood recessive illnesses with severe clinical manifestations1. A revised panel is undergoing clinical validation for use as a laboratory developed test (LDT) with an intention of being offered via a laboratory regulated by the Clinical Laboratory Improvement Amendments (CLIA). The clinical panel contains 595 childhood recessive diseases that are d...
Source: PLOS Currents Evidence on Genomic Tests - May 2, 2012 Category: Genetics & Stem Cells Authors: stephenkingsmore Source Type: research