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Total 92 results found since Jan 2013.

Intracranial Hemorrhage Secondary to Vitamin K Deficiency in X-linked Myotubular Myopathy
X-linked myotubular myopathy (XLMTM) is a congenital, centronuclear myopathy presenting at birth with facial anomalies, profound hypotonia, and respiratory muscle weakness leading to early respiratory failure. It is a rare disorder, estimated at 1 in 50,000 male births with a high mortality and modest 1-year survival between 25-64% [1-3]. While definitive data are not known, one study found that patients often died at around 7 years of age secondary to respiratory failure [1]. Patients with XLMTM typically experience multiple co-morbidities requiring extensive supportive care [2,3].
Source: Neuromuscular Disorders - May 11, 2021 Category: Neurology Authors: Jeremy M. Neese, Sabrina Yum, Susan Matesanz, Leslie J. Raffini, Hilary B. Whitworth, Kathleen M. Loomes, Oscar H. Mayer, Alicia M. Alcamo Tags: Case report 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

Is Vitamin D Deficiency a Confounder in Alcoholic Skeletal Muscle Myopathy?
CONCLUSIONS: Given the strong interdependency of suboptimal levels of vitamin D, phosphate, and magnesium in chronic alcohol abuse, we hypothesize that combined deficiencies interfere with membrane and intracellular metabolic processes in chronic alcohol-related myopathy; however, it is not yet possible to define exact mechanisms of interaction. PMID: 23240627 [PubMed - as supplied by publisher]
Source: Alcoholism, Clinical and Experimental Research - December 14, 2012 Category: Addiction Authors: Wijnia JW, Wielders JP, Lips P, van de Wiel A, Mulder CL, Nieuwenhuis KG Tags: Alcohol Clin Exp Res Source Type: research

Association Between Vitamin D and Statin-Related Myopathy: A Meta-analysis
ConclusionsThe present meta-analysis provides evidence that low 25OHD level is associated with statin-related myopathy and that exogenous vitamin D supplementation can improve statin-related muscular intolerance associated with low 25OHD level in most cases. Our findings may provide useful insight for the prevention and treatment of statin-related myopathy.
Source: American Journal of Cardiovascular Drugs - July 23, 2021 Category: Cardiology Source Type: research

G.P.26: Vitamin D deficiency myopathy in Egypt: A treatable myopathy
Vitamin D deficiency could be due to decreased bioavailability (decreased intake or exposure to sunlight, urinary loss or malabsorption), abnormal metabolism (liver disease, renal disease) or abnormal target tissue response (vitamin D resistant or gastrointestinal disorders). Vitamin D deficiency is one of the causes of osteomalacic myopathy. To highlight the clinical and laboratory characteristics of vitamin D deficiency myopathy in Egypt and to discuss its therapeutic implications. All patients presented with gradual progressive limb-girdle weakness with or without bony pains, pains of limb muscles, low backache or joint...
Source: Neuromuscular Disorders - September 4, 2014 Category: Neurology Authors: N.A. Fahmy, D. Fayez Source Type: research

Autism in the Son of a Woman with Mitochondrial Myopathy and Dysautonomia: A Case Report
Conclusion Given emerging evidence that mitochondrial dysfunction, particularly in the electron transport chain needed for cellular energy production, is an underlying pathophysiological mechanism for some varieties of ASD, clinicians should have a high index of suspicion for mitochondrial disease, especially when they encounter a patient with unusual neurological or constitutional symptoms. The prevalence of mitochondrial disease in ASD patients may be as high as five percent, which means that it is not the “zebra”[27] diagnosis that it might be in a non-ASD patient, where prevalence is about 0.01 percent.10 Reference...
Source: Innovations in Clinical Neuroscience - October 9, 2015 Category: Neuroscience Authors: ICN Online Editor Tags: Anxiety Disorders Asperger's syndrome Autism Behavioral and Cognitive Neurology Case Report Current Issue Intellectual Disability Neurologic Systems and Symptoms Pervasive Developmental Disorders ASD autism spectrum disorder dysauton Source Type: research

Low vitamin D Levels and Genetic Polymorphism in the Vitamin D Receptor are Associated with Increased Risk of Statin‐Induced Myopathy
In conclusion, 25OHD levels <50 nmol/L might be a useful marker to predict muscular adverse events during statin treatment. In addition, the finding that the VDR polymorphism TaqI was associated with myopathy may indicate a causal relationship between vitamin D function and myopathy but larger studies are needed before firm conclusions can be drawn. This article is protected by copyright. All rights reserved.
Source: Basic and Clinical Pharmacology and Toxicology - September 3, 2015 Category: Drugs & Pharmacology Authors: Marie‐Louise Ovesjö, Ilona Skilving, Peter Bergman, Anders Rane, Lena Ekström, Linda Björkhem‐Bergman Tags: Original Article Source Type: research

Osteomalacic Myopathy in Children and Adolescents with Vitamin-D Deficiency
Conclusions: Vitamin-D deficiency should be considered in the differential diagnosis of proximal myopathy in children and adolescents.
Source: Neurology India - December 23, 2021 Category: Neurology Authors: Suhalika S Sahni Shruti Kakkar Ruchika Kumar Jatinder S Goraya Source Type: research

Myopathy induced by statin‑ezetimibe combination: Evaluation of potential risk factors
We report a case of myalgia with elevated serum creatinine phosphokinase in a patient after 2 months of therapy with fixed dose combination of atorvastatin and ezetimibe (10 mg each). At the time of the event, patient was undertaking moderate physical exertion in the form of brisk walking for 30&#8211;40 min a day and was detected to have low serum Vitamin D levels. The adverse event resolved after stopping atorvastatin-ezetimibe combination therapy. Potential risk factors, such as physical exertion and Vitamin D deficiency, co-existent in dyslipidemic patients, may exacerbate myopathy potential of these drugs, and ...
Source: Indian Journal of Pharmacology - September 15, 2015 Category: Drugs & Pharmacology Authors: Ballari BrahmachariSuparna Chatterjee Source Type: research

Impact of Vitamin D Status on Statin-Induced Myopathy
Conclusion Vitamin D status may be considered a modifiable risk factor for muscle-related adverse effects of statins, and supplementation of vitamin D (particularly when ⩽20 ng/mL) may improve statin tolerance.
Source: Journal of Clinical and Translational Endocrinology - November 23, 2016 Category: Endocrinology Source Type: research

S-25OHD is Associated with Hand Grip Strength and Myopathy at Five Years in Girls: An Odense Child Cohort Study.
Conclusions: Five-year s-25OHD was independently associated with HGS and myopathy in girls, but not in boys. Muscle strength may be dependent on vitamin D status even in the higher range in preschool girls. The sex difference remains unexplained. PMID: 29788436 [PubMed - as supplied by publisher]
Source: The Journal of Clinical Endocrinology and Metabolism - May 16, 2018 Category: Endocrinology Authors: Al-Jwadi RF, Jespersen E, Dalgård C, Bilenberg N, Christesen HT Tags: J Clin Endocrinol Metab Source Type: research

Effect of Vitamin D Analogue on Rosuvastatin-Induced Myopathy in Wistar Rats.
Conclusion: The present study shows that the vitamin D analogue alfacalcidol prevents statin-induced myopathy. The serum CK levels are comparable to the control group on day 15 of vitamin D administration. PMID: 32292293 [PubMed - in process]
Source: The Scientific World Journal - April 16, 2020 Category: Science Tags: ScientificWorldJournal Source Type: research

Chronic vitamin E deficiency promotes vitamin C deficiency in zebrafish leading to degenerative myopathy and impaired swimming behavior.
Abstract We hypothesized that zebrafish (Danio rerio) undergoing long-term vitamin E deficiency with marginal vitamin C status would develop myopathy resulting in impaired swimming. Zebrafish were fed for 1 y a defined diet without (E-) and with (E+) vitamin E (500mg α-tocopherol/kg diet). For the last 150days, dietary ascorbic acid concentrations were decreased from 3500 to 50mg/kg diet and the fish sampled periodically to assess ascorbic acid concentrations. The ascorbic acid depletion curves were faster in the E- compared with E+ fish (P<0.0001); the estimated half-life of depletion in the E- fish was 34day...
Source: Comparative biochemistry and physiology. Toxicology and pharmacology : CBP - May 1, 2013 Category: Biochemistry Authors: Lebold KM, Löhr CV, Barton CL, Miller GW, Labut EM, Tanguay RL, Traber MG Tags: Comp Biochem Physiol C Toxicol Pharmacol Source Type: research

Proximal myopathy: diagnostic approach and initial management
Proximal myopathy presents as symmetrical weakness of proximal upper and/or lower limbs. There is a broad range of underlying causes including drugs, alcohol, thyroid disease, osteomalacia, idiopathic inflammatory myopathies (IIM), hereditary myopathies, malignancy, infections and sarcoidosis. Clinical assessment should aim to distinguish proximal myopathy from other conditions that can present similarly, identify patients who need prompt attention, like those with cardiac, respiratory or pharyngeal muscle involvement, and determine underlying cause of myopathy. Initial evaluation should include simple tests, like creatine...
Source: Postgraduate Medical Journal - July 16, 2013 Category: Journals (General) Authors: Suresh, E., Wimalaratna, S. Tags: Reviews Source Type: research

Vitamin D supplementation rescues simvastatin induced myopathy in mice via improving mitochondrial cristae shape.
In conclusion, these findings suggested that moderate vitamin D supplementation rescued simvastatin induced myopathy via improving the mitochondrial cristae shape and function. PMID: 32479918 [PubMed - as supplied by publisher]
Source: Toxicology and Applied Pharmacology - May 28, 2020 Category: Toxicology Authors: Ren L, Xuan L, Han F, Zhang J, Gong L, Lv Y, Zhang W, Yang S, Xu B, Yan Y, Guo L, Liu H, Wan Z, Liu L Tags: Toxicol Appl Pharmacol Source Type: research