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    Factor V Leiden G1691A, prothrombin G20210A, and MTHFR C677T mutations in Turkish inflammatory bowel disease patients
    (H G E Update Medical Publishing S A, 2007) Yasa, Mehmet Hadi; Bolaman, Zahit; Yukselen, Vahit; Kadikoylu, Gurhan; Karaoglu, Ali Onder; Batun, Sabri
    Background/Aims: Patients with inflammatory bowel disease (IBD) have an increased risk for thromboembolic complications. We investigated the incidence of factor V Leiden G1691A, methylene tetrahydrofolate reductase (MTHFR) C677T, and prothrombin G20210A mutation in 27 Turkish IBD patients with no history of thromboembolic disease. Methodology: Twenty-seven patients, 22 with ulcerative colitis (UC) and 5 with Crohn's disease (CD), and 47 healthy were included to the study. The DNAs were obtained from peripheral blood by using pure polymerase chain kit. Then, factor V Leiden G1691A, which active protein C resistance positive, prothrombin G20210A and MTHFR C677T mutations were investigated in DNA by using LightCycler-Factor V Leiden G1691A mutation, Prothrombin G20210A and MTHFR C677T estimate kits. Results: The heterozygote factor V Leiden G1691A mutation was detected in 3 (11.1%) patients with IBD and 2 (4.3%) controls (p > 0.05). The homozygote factor V Leiden G1691A mutation was not estimated among patients and controls. Heterozygote prothrombin G20210A mutation was detected in 2 (7.4%) patients with IBD and in 0 (0%) controls (p>0.05). There was no homozygote prothrombin G20210A mutation in IBD and controls. Heterozygote MTHFR C677T mutation was 10 of 27 (37%) patients with IBD while 15 of 47 (32%) controls (p>0.05). Homozygote MTHFR C677T mutation was detected in 4 patients (14.9%) with IBD and 3 (6.3%) controls (p>0.05). Conclusions: Our study did not reveal any association between IBD and the most common hereditary thrombophilic factors and these mutations interfere with neither disease manifestations nor the thrombotic complications.
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    Öğe
    Hereditary Thrombophilic Factors in Stroke Due to Cerebral Infarct
    (Elsevier Science Inc, 2009) Bolaman, Zahit; Ozkul, Ayca; Kiylioglu, Nefati; Kadikoylu, Gurhan; Erturk, Ahmet; Batun, Sabri; Akyol, Ali
    Background: The stroke is the third most common cause of all deaths. In new Studies, the importance of hereditary thrombophilic factors on stroke is emphasized. The aim of this study is to determine the role of hereditary thrombophilic factors including factor V Leiden A1691G (FVL), prothrombin G20210A, and methylenetetrahydrofolate reductase (MTHFR) C677T gene mutations in patients with stroke because of cerebral infarct. Methods: Twenty-four patients with stroke and 53 controls with risk factor for stroke were enrolled. Polymerase chain reaction was used to detect these mutations. Results: Heterozygote FVL mutation in 2 (8.3%) patients and MTHFR mutation in 10 (41.7%) patients were detected. In the control group, there were 2 (3.9%) patients with heterozygote FVL mutation and 15 (28.3%) patients with MTHR mutation. Both FVL and MTHFR gene Mutations were detected in I patient and 2 controls, respectively. Prothrombin gene mutation was not found in 2 groups. There were not statistically significant differences for all 3 mutation,; in-between 2 groups (P > 0.05). Odds ratios were 0.431 (0.074 2.504, 95% CI) for FVL mutation and 0.553 (0.221 1.381, 95% CI) for MTHFR mutation, respectively. Conclusion: Although our study group was small, hereditary thrombophilic factors might not be risk factors for stroke because of cerebral infarct.