نتایج جستجو برای: kearns
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hypoparathyroidism as the first manifestation of kearns-sayre syndrome: a case report how to cite this article: ashrafzadeh f, ghaemi n, akhondian j, beiraghi toosi m, elmi s. hypoparathyroidism as the first manifestation of kearns-sayre syndrome: a case report. iran j child neurol. 2013 autumn;7(4):53-57. objective kearns-sayre syndrome is a mitochondrial myopathy, which was first descri...
Kearns-Sayre syndrome is a mitochondrial myopathy, which was first described by Tomas Kearn in 1958. Diagnostic symptoms of this condition include retinitis pigmentosa, chronic progressive external ophthalmoplegia, and one or more of the following factors: cardiac conduction system diseases, cerebellar ataxia, and cerebrospinal fluid (CSF) with protein content above 100 mg/dL. The nature of thi...
Kearns-Sayre syndrome is a rare disorder often caused by mitochondrial DNA rearrangement. The most commonly reported mitochondrial DNA deletion is 4977 bp in size spanning nucleotides 8469 and 13447. The clinical signs of Kearns-Sayre syndrome include chronic progressive external ophthalmoplegia, retinitis pigmentosa, heart block and cerebellar ataxia, as well as other heterogeneous manifestati...
OBJECTIVE To describe the clinical data and the results of molecular analyses of the mitochondrial DNA in a patient with Kearns-Sayre Syndrome. METHODS Molecular analyses of mitochondrial DNA from the patient included PCR amplification of a region where the common Kearns- Sayre deletion is located and Genotype-Phenotype correlations are discussed. RESULTS The affected patient showed ptosis,...
Trying to overcome Dugundji’s result on uncharacterizability of modal logics by finite logical matrices, J. Kearns (in 1981) and J. Ivlev (in 1988) propose, independently, a characterization of some modal systems by means of four-valued multivalued truth-functions (by restricting the valuations using level valuations, in Kearns’ approach), as an alternative to Kripke semantics. This constitutes...
OBJECTIVE Kearns-Sayre syndrome is a mitochondrial myopathy, which was first described by Tomas Kearn in 1958. Diagnostic symptoms include retinitis pigmentosa, chronic and progressive external ophthalmoplegia plus one or more of following factors: heart conduction system disorders, cerebellar ataxia, or cerebrospinal fluid (CSF) protein content above 100 mg/dL. The nature of this uncommon dise...
The mitochondrial cytopathies or oxidative-phosphorylation diseases are a diverse group of disorders that result from the structural, biochemical, or genetic derangement of mitochondria. Because mitochondrial dysfunction can affect the most highly energy-dependent organs, cardiac involvement is frequent in these diseases. To identify the clinical features of Kearns-Sayre syndrome, an entity ass...
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