نتایج جستجو برای: melas

تعداد نتایج: 971  

Journal: :Journal of the Endocrine Society 2021

Abstract Introduction: Maternally inherited diabetes and deafness (MIDD) is a multisystem disorder characterized by insulinopenia sensorineural hearing loss. This rare form of monogenic most commonly associated with the A3243G mutation mitochondrial DNA (mtDNA). The same seen in 80 percent patients MELAS (Mitochondrial encephalomyopathy lactic acidosis stroke-like episodes). MIDD have overlappi...

We read with interest the article by Almasi et al. on a 48 years old female patient with Mitochondrial Encephalomyopathy, Lactic Acidosis, And Stroke-like episodes (MELAS), diagnosed based on the clinical presentation, blood test results, and imaging and muscle biopsy findings . We have the following comments and concerns.

Journal: :Bulletin of the Indian Institute of History of Medicine 1997
S A Husain V Kumar Bhatnagar

This article is a brief account of a rare Urdu booklet entitled 'Report Nizam Ayurvedic Safari Dawakhana'. It is a report of a mobile clinic sent by Nizam VII of Hyderabad to Kumbh Mela at Allahabad on a religious occasion in the year 1942, which was printed in the same year. This report sheds light on the history of the sacred place Prayag, its importance and the activities of the mobile clini...

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 ...

2016

Submit Manuscript | http://medcraveonline.com Abbreviations: CPEO: Chronic Progressive External Ophthalmoplegia; KSS: Kearns-Sayre Syndrome; MELAS: Mitochondrial Encephalopathy Lactic Acidosis Stroke-like Episodes; NARP: Neuropathy Ataxia Retinitis Pigmentosa; LHON: Leber’s Hereditary Optic Neuropathy; MERRF: Myoclonic Epilepsy and Ragged Red Fibers; iPSC: Induced Pluripotent Stem Cells; FIAU: ...

2015
Wei-Dong Le

Editorial As a guest editor for this special issue of Neurology Diseases in the Chinese Medical Journal (English Edition), I am pleased to announce a completion of 19 articles (13 research articles, 4 review papers and 2 case reports) which cover a spectrum of research frontier in neurology diseases for publication in this issue. These articles provide an update on the state of clinical and bas...

Journal: :Revista de neuro-psiquiatría 2022

El Síndrome de MELAS, es una enfermedad mitocondrial asociada a crisis epilépticas. Se presenta el caso dos hermanos portadores confirmado genéticamente, con historia estados epilépticos recurrentes, acompañados déficit neurológico, fallas crecimiento, hiperlactacidemia y lesiones que simulan infartos cerebrales. destaca la presentación neurológica estado epiléptico permita tenerla presente en ...

2013
Lei Yu Sheng Xie Jiangxi Xiao Zhaoxia Wang Xiaodong Zhang

OBJECTIVE To quantify the cerebral OEF at different phases of stroke-like episodes in patients with mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS) by using MRI. METHODS We recruited 32 patients with MELAS confirmed by gene analysis. Conventional MRI scanning, as well as functional MRI including arterial spin labeling and oxygen extraction fraction im...

Journal: :Human molecular genetics 2008
Florin Sasarman Hana Antonicka Eric A Shoubridge

The majority of patients with MELAS (mitochondrial encephalomyophathy, lactic acidosis, stroke-like episodes) carry a heteroplasmic A3243G mutation in the mitochondrial tRNA(Leu(UUR)). The mutation prevents modification of the wobble U base, impairing translation at UUA and UUG codons; however, whether this results in amino acid misincorporation in the mitochondrial translation products remains...

2000
Yoshihiro ÔNISHI

Quantization needs evaluation of all of states of a quantized object rather than its stationary states with respect to its energy. In this paper, we have investigated moduli Melas of a quantized elastica, a quantized loop on with an energy functional associated with the Schwarz derivative, on a Riemannian sphere P. Then we proved that its moduli is decomposed to equivalent classes determined by...

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