نتایج جستجو برای: kearns
تعداد نتایج: 790 فیلتر نتایج به سال:
A 15-year-old boy was diagnosed with Kayne Sayre Syndrome. He presented with pigmentary retinopathy, progressive ophthalmoplegia and complete heart block. He received a transvenous dual chamber pacemaker. Two years later he died suddenly while at home. This case highlights the importance of recognizing mechanisms other than heart block as a cause of sudden death in a patient with KSS.
OBJECTIVE To explore myelin components and mitochondrial changes within the central nervous system in patients with well-characterized mitochondrial disorders due to nuclear DNA or mitochondrial DNA (mtDNA) mutations. DESIGN Immunohistochemical analysis, histochemical analysis, mtDNA sequencing, and real-time and long-range polymerase chain reaction were used to determine the pathogenicity of...
PURPOSE To determine the spectrum of MR findings in patients with mitochondrial myopathy and correlate them with central nervous system symptoms and signs. METHODS We performed a prospective evaluation of the MR findings of eight patients with mitochondrial myopathy (three with Kearns-Sayre syndrome and five with chronic progressive external ophthalmoplegia), six of whom had central nervous s...
Studies in patients have suggested that the clinical phenotypes of some mitochondrial diseases might transit from one disease to another (e.g., Pearson syndrome [PS] to Kearns-Sayre syndrome) in single individuals carrying mitochondrial (mt) DNA with a common deletion (ΔmtDNA), but there is no direct experimental evidence for this. To determine whether ΔmtDNA has the pathologic potential to ind...
Defects of mitochondrial DNA have been found at necropsy in the myocardium of patients with Kearns-Sayre syndrome. A patient with characteristics typical of Kearns-Sayre syndrome and a complete heart block is described. Southern blot analysis showed a deletion of 3.3 kb in the mitochondrial DNA in an endomyocardial biopsy specimen and in skeletal muscle. The deletion led to the disappearance of...
We study the model of learning discrete probability distributions which was introduced by Kearns, Mansour, Ron, Rubinfeld, Schapire, and Sellie in 13]. Our main results are a lower bound on computational sample complexity and a lower bound on hypothesis size for this learning model. We deene a class of eeciently learnable distributions which has the following interesting property: while a compu...
Folate transport to the brain depends on ATP-driven folate receptor-mediated transport across choroid plexus epithelial cells. Failure of ATP production in Kearns-Sayre syndrome syndrome provides one explanation for the finding of low spinal fluid (CSF) 5-methyltetrahydrofolate (5MTHF) levels in this condition. Therefore, we suspect the presence of reduced folate transport across the blood-spin...
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