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1.
Egyptian Journal of Medical Human Genetics [The]. 2014; 15 (2): 113-123
en Inglés | IMEMR | ID: emr-154326

RESUMEN

Inherited thrombophilia may be caused by mutations, polymorphisms in a variety of genes mainly involved in haemostatic pathways was to find the prevalence of thrombophilic gene factor V Leiden [FVL] and methylene tetrahydrofolate reductase [MTHFR] gene polymorphism in patients with myocardial infarction [MI], aiming at early diagnostic methods and guiding preventive procedures. This study was carried on 30 patients who survived their first MI as compared to 15 healthy volunteers. Patients and controls were subjected to history, physical examination. Factor VL G1691A and MTHFR C677T genotypes were determined by RT PCR. The prevalence of heterozygous FVL GA genotype was significantly higher among MI patients as compared to the control group. The prevalence of mutant homozygous AA was significantly higher in MI patients as compared to control. The low risk cases had a higher frequency of GA genotype as compared to high risk cases. As regards MTHFR C677T gene polymorphism, the prevalence of heterozygous MTHFR C677T CT genotype showed significant increase in MI patients compared with the control group. The prevalence of mutant homozygous TT genotype was significantly higher in MI patients as compared to the control group. The low risk cases had a higher frequency of heterozygous MTHFR C677T CT genotype than high risk cases The prevalence of heterozygous [FVL G1691 A] and MTHFR C677T gene polymorphisms was significantly increased in MI patients compared with the control group and these gene polymorphisms are probably risk factors for myocardial infarction among Egyptian cases especially if integrated with other environmental and genetic risk factors. We recommended screening high risk patients for this polymorphism and the use of specific thromboprophylaxis to prevent recurrent thrombotic disease


Asunto(s)
Humanos , Masculino , Femenino , Polimorfismo Genético , Prevalencia , Genotipo , Reacción en Cadena de la Polimerasa , Trombofilia/sangre
2.
Scientific Journal of Al-Azhar Medical Faculty [Girls][The]. 2002; 23 (3): 313-328
en Inglés | IMEMR | ID: emr-180834

RESUMEN

Systemic Lupus Erythematosus [SLE] is :m autoimmune disease characterized by n ihisystem involvement. Nervous system ivemen,t in SLE can present with diverse airologic or psychiatric symptomatology. study was done on fifty patients with vi.. They were divided into 2 groups:Group included twenty five patient with active / K Group II included twenty five patients i non active SLE. the following were for each patient: Complete history, full .ail examination , complete blood count ' HH! urea, creatnine, ANA, anti DNA, anti :[1 JSSA], anti LA [SSB] , anti SM, anti All, LAC, and conventional EEG. i EG findingsamongbothgroups :d that the EEG was normal in 12 % of .ills and abnormal in 88 % of patients long group I. The generalized epileptic

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