نتایج جستجو برای: melas syndrome

تعداد نتایج: 622265  

Journal: :Biochimica et biophysica acta 2017
Samuel Frey Guillaume Geffroy Valerie Desquiret-Dumas Naig Gueguen Celine Bris Sophie Belal Patrizia Amati-Bonneau Arnaud Chevrollier Magalie Barth Daniel Henrion Guy Lenaers Dominique Bonneau Pascal Reynier Vincent Procaccio

Ketogenic Diet used to treat refractory epilepsy for almost a century may represent a treatment option for mitochondrial disorders for which effective treatments are still lacking. Mitochondrial complex I deficiencies are involved in a broad spectrum of inherited diseases including Mitochondrial Encephalomyopathy, Lactic Acidosis and Stroke-like episodes syndrome leading to recurrent cerebral i...

Journal: :Nucleic acids research 1999
M Helm C Florentz A Chomyn G Attardi

Post-transcriptional modifications are characteristic features of tRNAs and have been shown in a number of cases to influence both their structural and functional properties, including structure stabilization, amino-acylation and codon recognition. We have developed an approach which allows the investigation of the post-transcriptional modification patterns of human mitochondrial wild-type and ...

2010
JOSEF FINSTERER

Introduction: Cerebral manifestations in mitochondrial disorders (MIDs) not only include neurological abnormalities, cognitive impairment, or dementia, but in single patients also psychiatric abnormalities, in particular psychosis. Problem formation: Is there a difference between mitochondrial and non-mitochondrial psychosis? How can mitochondrial and non-mitochondrial psychosis be delineated? ...

Journal: :Polish Journal of Radiology 2013

Journal: :Journal of wildlife diseases 2015
Geoffrey Foster Adrian M Whatmore Mark P Dagleish Johanna L Baily Rob Deaville Nicholas J Davison Mark S Koylass Lorraine L Perrett Emma J Stubberfield Robert J Reid Andrew C Brownlow

Brucella ceti is an emerging zoonotic pathogen that has been recovered from several species of cetaceans in the world's oceans over the past 20 yr. We report the recovery of B. ceti from a Sowerby's beaked whale (Mesoploden bidens) and a long-finned pilot whale (Globicehala melas). Recovery from the testis of a long-finned pilot whale provides further evidence of potential for B. ceti infection...

Journal: :The Biochemical journal 1996
A M James Y H Wei C Y Pang M P Murphy

A number of human diseases are caused by inherited mitochondrial DNA mutations. Two of these diseases, MELAS (mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes) and MERRF (myoclonic epilepsy and ragged-red fibres), are commonly caused by point mutations to tRNA genes encoded by mitochondrial DNA. Here we report on how these mutations affect mitochondrial function ...

2009
Paulo José Lorenzoni Rosana H. Scola Cláudia S. Kamoi Kay Raquel C. Arndt Aline A. Freund Isac Bruck Mara Lúcia S.F. Santos Lineu C. Werneck Rosana Herminia Scola

Objective: The aim of the study was to analyze a series of Brazilian patients suffering from MELAS. Method: Ten patients with MELAS were studied with correlation between clinical findings, laboratorial data, electrophysiology, histochemical and molecular features. Results: Blood lactate was increased in eight patients. Brain image studies revealed a stroke-like pattern in all patients. Muscle b...

2016
Haricharan Banerji

To the Editor of "The Indian Medical Gazette." Sir,?In October 1904, cholera broke out in the villages surrounding Chanchal. The Mahomedans were only the victims of the fell disease. The persons who came back from the Pernya mela were mostly attacked and through them the disease spread in an epidemic form. The village that bore the brunt was Ranikamat, nearly half a mile south-west of the dispe...

2016
H. Herbert

Before 1892 observation had definitely associated the outbreak of cholera at Hard war with but one condition?the overcrowding at Kumbh fairs. The only two epidemics of the thirty-four, years 1858?91,1 had fallen on two of the three Kumbh years of that period, and these were the only two occasions on which the crush was especially remarkable.2 The estimated attendance of pilgrims in 18G7 was 1,2...

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