نتایج جستجو برای: mediterranean variant
تعداد نتایج: 135072 فیلتر نتایج به سال:
glucose-6-phosphate dehydrogenase (g6pd) deficiency is the most prevalent enzymopathy in mankind. it has sex-linked inheritance. this enzyme exists in all cells. g6pd deficiency increases the sensitivity of red blood cells to oxidative damage. g6pd deficiency was discovered in 1950 when some people suffered hemolytic anemia as a result of taking antimalarial drugs (primaquin). most people w...
BACKGROUND AND OBJECTIVES Glucose-6-phosphate dehydrogenase (G6PD) deficiency is the most common erythrocytic enzymatic disorder in Italy and is characterized by wide clinical, biochemical and molecular variability. We studied the clinical and hematologic data from 54 G6PD-deficient, unrelated males from the Apulia region. DESIGN AND METHODS Analyses for enzymatic activity, G6PD electrophores...
BACKGROUND Familial Mediterranean fever is an autoinflammatory disease of unknown etiology, characterized clinically by recurrent attacks of sudden-onset fever with arthralgia and/or thoracoabdominal pain and pathogenetically by autosomal recessive inheritance due to a mutation in the MEFV gene. Behçet's disease is an inflammatory disease characterized by recurrent oral and genital aphthous ulc...
background: glucose-6-phosphate dehydrogenase (g6pd) deficiency is the most frequent genetic enzymatic disorder in human, which is inherited as an x-linked gene. it encodes a housekeeping enzyme, which is vital for cell survival. according to previous investigations, mediterranean mutation (c563t) of g6pd gene is the most prevalent mutation in some provinces of iran and neighboring countries...
In order to explore the nature of glucose-6-phosphate dehydrogenase (G6PD) deficiency in one of the coastal provinces of the Caspian Sea (Mazandaran) in Iran, we have analysed the G6PD gene in 74 unrelated G6PD-deficient males (2-6 year children) with a history of Favism, by using PCR and subsequent digestion by appropriate restriction enzymes, looking for the presence of certain known mutation...
in order to explore the nature of glucose-6-phosphate dehydrogenase (g6pd) deficiency in one of the coastal provinces of the caspian sea (mazandaran) in iran, we have analysed the g6pd gene in 74 unrelated g6pd-deficient males (2-6 year children) with a history of favism, by using pcr and subsequent digestion by appropriate restriction enzymes, looking for the presence of certain known mutation...
BACKGROUND Although G6PD deficiency is the most common genetically determined blood disorder among Iraqis, its molecular basis has only recently been studied among the Kurds in North Iraq, while studies focusing on Arabs in other parts of Iraq are still absent. METHODS A total of 1810 apparently healthy adult male blood donors were randomly recruited from the national blood transfusion center...
Glucose-6-phosphate dehydrogenase deficiency is a common hemolytic genetic disorder, particularly in the areas endemic to malaria. The risk of drug induced Glucose-6-phosphate dehydrogenase deficiency related hemolysis depends on a number of factors including the Glucose-6-phosphate dehydrogenase variant. Aims: To know the G6PD deficiency and identify its variants in drug induced hemolysis in m...
Diabetic ketoacidosis is traditionally stated as being capable of precipitating haemolysis in patients deficient in glucose-6-phosphate dehydrogenase (G6PD). This, however, is based on only a few case reports with inadequate documentation. A study was therefore conducted to review the subject in people with the Mediterranean variant of G6PD deficiency. Perusal of the medical records for the yea...
Background & objectives: MEFV gene has a major role in Familial Mediterranean Fever (FMF) as an auto-inflammatory disorder. FMF is most often seen in the people of the Mediterranean area. Considering the significant role of the MEFV gene in many rheumatologic diseases and even non-rheumatologic disorders, it is necessary to identify different variations of these mutations in the healthy and nor...
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