نتایج جستجو برای: polg gene
تعداد نتایج: 1141492 فیلتر نتایج به سال:
WARNING: LIFE THREATENING ADVERSE REACTIONS Hepatotoxicity General Population: Hepatic failure resulting in fatalities has occurred in patients receiving valproate and its derivatives. These incidents usually have occurred during the first six months of treatment. Serious or fatal hepatotoxicity may be preceded by nonspecific symptoms such as malaise, weakness, lethargy, facial edema, anorexia,...
Maintenance of mitochondrial DNA (mtDNA) depends on nuclear-encoded proteins such as mtDNA polymerase (POLG), whose mutations are involved in the diseases caused by mtDNA defects including mutation and deletion. The defects in mtDNA and in intracellular Ca 2 ([Ca 2 ]i ) homeostasis have been reported in bipolar disorder (BD). To understand the relevance of the mtDNA defects to BD, we studied tr...
A single mutation can alter cellular and global homeostatic mechanisms and give rise to multiple clinical diseases. We hypothesized that these disease mechanisms could be identified using low minor allele frequency (MAF<0.1) non-synonymous SNPs (nsSNPs) associated with "mechanistic phenotypes", comprised of collections of related diagnoses. We studied two mechanistic phenotypes: (1) thrombosis,...
Background: Propofol-related infusion syndrome (PRIS) is a known complication of long-term propofol infusion. Providers should be aware PRIS risk, as early recognition key to avoiding mortality, which can range from 30% 60%. The underlying mechanism unknown, but some studies suggest that mitochondrial dysfunction may predispose patients developing PRIS. Case Report: We present case refractory a...
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