نتایج جستجو برای: melas

تعداد نتایج: 971  

Journal: :Diabetes Care 2009
Julia Szendroedi Albrecht Ingo Schmid Martin Meyerspeer Camilla Cervin Michaela Kacerovsky Gerhard Smekal Sabine Gräser-Lang Leif Groop Michael Roden

OBJECTIVE Impaired muscular mitochondrial function is related to common insulin resistance in type 2 diabetes. Mitochondrial diseases frequently lead to diabetes, which is mostly attributed to defective beta-cell mitochondria and secretion. RESEARCH DESIGN AND METHODS We assessed muscular mitochondrial function and lipid deposition in liver (hepatocellular lipids [HCLs]) and muscle (intramyoc...

2016
Stephen S. Cai Rainer von Coelln Theresa J. Kouo

Imaging findings of adult-onset mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS) syndrome is poorly documented. The authors present a 48-year-old woman with subacute onset of word-finding difficulties and right arm stiffness. Magnetic resonance imaging performed 2 weeks prior revealed left temporal lobe diffusion and fluid-attenuated inversion recovery hyperint...

Journal: :Human molecular genetics 2006
Marko Kervinen Reetta Hinttala Heli M Helander Sari Kurki Johanna Uusimaa Moshe Finel Kari Majamaa Ilmo E Hassinen

The ND1 subunit gene of the mitochondrial NADH-ubiquinone oxidoreductase (complex I) is a hot spot for mutations causing Leber hereditary optic neuropathy and several mutations causing the mitochondrial encephalopathy, lactic acidosis and stroke-like episodes syndrome (MELAS). We have used Escherichia coli and Paracoccus denitrificans as model systems to study the effect of mutations 3946 and 3...

Journal: :Arquivos de Neuro-Psiquiatria 2016

Journal: :Archives of Clinical Neuropsychology 2022

Abstract Objective: Mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS) is a rare syndrome resulting from mutations in mitochondrial DNA. A neuropsychological profile of MELAS typically shows deficits executive function, attention, language, memory, visuospatial, motor functioning. To our knowledge, has been studied single cases only. Here we examine the juvenile ...

2014
Ryuji Uehara Koji Yamashita Akio Hiwatashi Osamu Togao Kazufumi Kikuchi Jun Yokoyama Dai Matsuse Takashi Yoshiura Hiroshi Honda

OBJECTIVE We report the clinical application of intravoxel incoherent motion (IVIM) magnetic resonance (MR) imaging to diagnose a case of mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS) in the acute phase. RESULTS On IVIM MR Images of this patient, higher perfusion (f) and diffusion (D) values in the left occipital and temporal lobes were found compar...

Journal: :SIAM J. Discrete Math. 2008
Marko J. Moisio

Abstract. Binary hyper-Kloosterman codes C(r,m) of length (2r − 1) are a quasi-cyclic generalization of the dual of the Melas code of length 2r − 1. In this note the duals C(r,m) i.e. a generalization of the Melas code C(r, 2) itself are studied. In particular, the minimum distance of C(r,m) for all r,m ≥ 2, the weight distribution of C(2, m) and C(2, m) for all m ≥ 2, and the weight distributi...

Journal: :Revista de investigacion clinica; organo del Hospital de Enfermedades de la Nutricion 2011
Josef Finsterer

Myopathy, encephalopathy, lactacidosis and stroke-like episodes (MELAS)-syndrome is a heterogeneous respiratory-chain-disorder (RCD) due to point mutations in mitochondrial genes (m.583G>A, m.1642G>A, m.3243A>G, m.3252A>G, m.3260A >G, m.3271T>C, m.3291T>C, m.5814A>G, m.9957T>C, m.13513G>A), due to mtDNA deletions, or due to nDNA mutations, such as in POLG1.1 Like most of the RCDs, MELAS is a mu...

Journal: :Turkish Journal of Agricultural and Natural Science 2021

Bu çalışma salkım çıkarma öncesi dönemde hasat edilerek silolanan filotu (Miscanthus x giganteus) silajlarına farklı oranlarda üre ve melas katkılarının silajların fiziksel bazı kalite özelliklerine etkilerini belirlemek amacıyla 2018 yılında Uşak’ta yürütülmüştür. Çalışmada %0.5, 1 1.5 oranında %0, 2 4 katkıları uygulanarak kuru madde oranı, özellikleri, pH, fleig puanı, ham protein nötr çözüc...

2015
Sivakumar Gopalswamy Joseph Mathew

MELAS syndrome (mitochondrial cytopathy, encephalomyopathy, lactic acidosis and stroke like episodes) is a syndrome in which signs and symptoms of gastro-intestinal disease are uncommon, if not rare. We describe a young female patient who presented as an acute surgical emergency, diagnosed as toxic mega colon necessitating an emergency total colectomy; the diagnosis of MELAS syndrome was made p...

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