نتایج جستجو برای: leigh disease
تعداد نتایج: 1491454 فیلتر نتایج به سال:
We examine the possible consistency of the quasi-steady state model with the newly discovered SNe Ia. The model assumes the existence of metallic dust ejected from the SNe explosions, which extinguishes light travelling over long distances. We find that the model shows a reasonable fit to the data, which improves if one take account of the weak gravitational lensing effect of the SNe which have...
The incidence of invasive group A streptococcal disease has increased in Norway since the 1980s. Analysis of 100 isolates recovered from 1988 to 2003 showed an increased genotypic diversity over time, while the prevalence of the strain that dominated in 1988, sequence type (ST)-28/emm-1, decreased. Necrotizing fasciitis was often associated with ST-15/emm-3.
BACKGROUND Leigh syndrome (LS) is a rare neurodegenerative mitochondrial disorder which typically presents in childhood but has a varied clinical course. Renal involvement such as proximal tubulopathy in patients with mitochondrial disorders has been described. However, end stage renal disease (ESRD) is uncommon and literature regarding patients undergoing kidney transplantation is limited. Suc...
Leigh syndrome associated with a mutation in the NDUFS7 (PSST) nuclear encoded subunit of complex I.
Leigh syndrome is the phenotypical expression of a genetically heterogeneous cluster of disorders, with pyruvate dehydrogenase complex deficiency and respiratory chain disorders as the main biochemical causes. We report the first missense mutation within the nuclear encoded complex I subunit, NDUFS7, in 2 siblings with neuropathologically proven complex I-deficient Leigh syndrome.
575. Abacavir Use and Risk for Myocardial Infarction and Coronary Artery Disease: Updated Meta-analysis of Data from Clinical Trials Cassandra Nan, PhD; Mark S. Shaefer, PharMD; Rimgaile Urbaityte, MSc; James Oyee, MSc; Judy Hopking, MSc; Leigh Ragone, MS; Cynthia McCoig, PhD and Vani Vannappagari, MBBS, MPH, PhD; GlaxoSmithKline, Stevenage, United Kingdom, ViiV Healthcare, Research Triangle Pa...
575. Abacavir Use and Risk for Myocardial Infarction and Coronary Artery Disease: Updated Meta-analysis of Data from Clinical Trials Cassandra Nan, PhD; Mark S. Shaefer, PharMD; Rimgaile Urbaityte, MSc; James Oyee, MSc; Judy Hopking, MSc; Leigh Ragone, MS; Cynthia McCoig, PhD and Vani Vannappagari, MBBS, MPH, PhD; GlaxoSmithKline, Stevenage, United Kingdom, ViiV Healthcare, Research Triangle Pa...
The radiologic evolution of Leigh disease is documented with sequential brain MR in the acute phase of the illness, at 3 weeks, and at 3 months. High-signal-intensity lesions seen on T2-weighted images in the first week resolved by 3 months, whereas new lesions appear during the chronic stage. Putamenal involvement is not a pathognomonic radiologic finding. Brain stem tegmentum, particularly th...
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