نتایج جستجو برای: leigh disease

تعداد نتایج: 1491454  

2005

Scleromalacia perforans is most frequently associated with rheumatoid arthritis. A necrotizing nodular scleritis proceeding to scleromalacia perforans is sometimes seen in the collagen disorders systemic lupus erythematosus, periarteritis nodosa, and Wegener's granulomatosis. Rarely scleromalacia has been described in porphyria and herpes zoster (Duke-Elder and Leigh I 965; Fran§ois, I 95 1) . ...

2014
Pankaj Prasun Loren Del Mar Pena

Leigh syndrome is typically a disorder of infancy and early childhood. Only a few patients with late onset Leigh syndrome have been reported [1]. The disorder is most likely underdiagnosed in adolescents and adults. In the past, many adults with Leigh syndrome were misdiagnosed with multiple sclerosis [2,3].Here, we describe a 17 year old girl with Leigh syndrome mimicking as central nervous sy...

2013

One in eight women will get breast cancer in her lifetime and in 2008 it has caused 458.503 deaths among the world [15]. Despite that technology has made considerable improvements in the last decades, there is still room for more advances. A technique that possibly can contribute to this field is t-SNE [24]. The aim of this thesis is to investigate whether t-SNE is able to present the breast ca...

Journal: :Alphaville 2021

This paper discusses some of the key methodological challenges emerging from AHRC project Reframing Vivien Leigh: Stardom, Archives and Access, led by PI Dr. Lisa Stead at University Exeter. twenty-month examined how legacies screen star Leigh are archived curated a range public institutions in South West England, taking audiences behind scenes local archives museums. The reflects on researchin...

Journal: :Arquivos Brasileiros de Oftalmologia 2008

Journal: :Brain : a journal of neurology 2007
Rosalba Carrozzo Carlo Dionisi-Vici Ulrike Steuerwald Simona Lucioli Federica Deodato Sivia Di Giandomenico Enrico Bertini Barbara Franke Leo A J Kluijtmans Maria Chiara Meschini Cristiano Rizzo Fiorella Piemonte Richard Rodenburg René Santer Filippo M Santorelli Arno van Rooij Diana Vermunt-de Koning Eva Morava Ron A Wevers

One pedigree with four patients has been recently described with mitochondrial DNA depletion and mutation in SUCLA2 gene leading to succinyl-CoA synthase deficiency. Patients had a Leigh-like encephalomyopathy and deafness but besides the presence of lactic acidosis, the profile of urine organic acid was not reported. We have studied 14 patients with mild 'unlabelled' methylmalonic aciduria (MM...

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