نتایج جستجو برای: melas syndrome

تعداد نتایج: 622265  

Journal: :Journal of the Korean Neurological Association 2017

Journal: :International Journal of Human Resource Management 2022

This article investigates how meso-level actors (MeLAs) contribute to HR practice transfer in diffusion and adaptation processes, drawing on the System-Society-Dominance-Corporate Effects (SSDC) framework interpret role of MeLAs Japanese management model Indonesian automotive industry. We focus two issues: i) way MeLAs’ training regimes Japan affect ii) coordinated strategy seeking procedural i...

Journal: :Heart Rhythm 2023

Mitochondrial diseases (MD) such as Encephalopathy, Lactic acidosis, And Stroke-like episodes (MELAS), Myoclonic Epilepsy with Ragged Red Fibers syndrome (MERRF) and Leber’s hereditary optic neuropathy are associated ventricular pre-excitation WPW. Refractory Torsades de Pointes (TdP) a complication of MD or hypothyroidism is very rare We present case refractory TdP in patient due to combinatio...

Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS) syndrome is a rare congenital disorder of mitochondrial DNA, presenting a wide range of clinical symptoms comprising headaches, seizures, aphasia, hearing loss, visual defects, and hemiparesis. Herein we report a case of a previously asymptomatic 40-year-old male who presented with recurrent headache, seiz...

Journal: :FASEB journal : official publication of the Federation of American Societies for Experimental Biology 2005
Marco Crimi Andreina Bordoni Giorgia Menozzi Laura Riva Francesco Fortunato Sara Galbiati Roberto Del Bo Uberto Pozzoli Nereo Bresolin Giacomo Pietro Comi

Extremely variable clinic and genetic features characterize mitochondrial encephalomyopathy (MEM). Pathogenic mitochondrial DNA (mtDNA) defects can be divided into large-scale rearrangements and single point mutations. Clinical manifestations become evident when a threshold percentage of the total mtDNA is mutated. In some MEM, the "mutant load" in an affected tissue is directly related to the ...

Journal: :The Canadian journal of neurological sciences. Le journal canadien des sciences neurologiques 2014
M Prasad B Narayan A N Prasad C A Rupar S Levin J Kronick D Ramsay K Y Tay C Prasad

BACKGROUND the maternally inherited MTTL1 A3243G mutation in the mitochondrial genome causes MelaS (Mitochondrial encephalopathy lactic acidosis with Stroke-like episodes), a condition that is multisystemic but affects primarily the nervous system. Significant intra-familial variation in phenotype and severity of disease is well recognized. METHODS retrospective and ongoing study of an extend...

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