Yazar "Eser B." seçeneğine göre listele

Listeleniyor 1 - 2 / 2
  • Küçük Resim Yok
    Öğe
    677C>T and 1298A>C polymorphisms of methylenetetrahydropholate reductase gene and biochemical parameters in Turkish population with Spina bifida occulta [Spina bifida okkultali hastalarda metilentetrahidrofolat redüktaz (MTHFR) geninin C677T ve A1298C polimorfizmlerinin analizi ve biyokimyasal parametrelerinin de?erlendirilmesi]
    (Turkish Neurosurgical Society, 2010) Eser B.; Cosar M.; Eser O.; Erdogan M.O.; Aslan A.; Yildiz H.; Boyaci G.
    Aim: This study aimed to investigate the 677C>T and 1298A>C MTHFR gene polymorphisms and their metabolic effects on the levels of folate, vitamin B12 and homocysteine in the serum of Turkish spina bifida occulta (SBO) patients and healthy individuals in disease. Material and Methods: A case-control study was performed to detect 677C>T and 1298A>C MTHFR gene polymorphisms in 39 SBO patients and 34 healthy individuals. The folate, vitamin B12 and homocysteine concentrations in the serum of SBO and healthy individuals were evaluated and compared with MTHFR gene polymorphisms. Results: 677 CC/CT/TT MTHFR genotype frequency differences between the SBO patients and controls were not significant (x2=3.325, P=0.068; x2=1.479, P=0.224; x2=0.275, P=0.600; respectively). 1298A>C MTHFR genotype frequency differences between the SBO patients and controls were significant (x2=8.477, P=0.004). The frequencies of the Aand C alleles of the 1298A>C polymorphism did not differ in a statistically significant manner between the groups (x2=0.576, P=0.448). The biochemical parameters were not significantly different between SBO patients and healthy individuals (P>0.05). Conclusion: The 677C>T and 1298A>C polymorphisms of the MTHFR gene cannot be regarded as major risk factors for SBO in the Turkish patients 677TT homozygosity may affect the metabolism of homocysteine.
  • Küçük Resim Yok
    Öğe
    Double aneuploidy: A case of trisomy 21 with XYY [Çift An?ploidi: XYY'li Trizomi 21 Olgusu]
    (2011) Köken R.; Bükülmez A.; Köken G.N.; Eser B.; Samli H.; Demir T.; Solak M.
    Although aneuploidies are common structural chromosomal abnormalities, double aneuploidies involving chromosomes 21 and Y are very rare. Here we report a case of double aneuploidy involving chromosomes 21 and Y in a 5 day old baby with jaundice and polycythemia. The diagnosis was confirmed by karyotype analysis using modified "whole blood" and microtechnique methods followed by Giemsa-Trypsin-Leishman (GTL) banding technique. The patient had typical features of Down syndrome, however, phenotypic features of XYY was not present. In addition, the patient also had atrial septal defect, multiple trabecular small ventricular septal defect, and moderate degree of pulmonary hypertension. Etiological predisposing factor for 48,XYY,+21 is not known. It is difficult to determine the incidence, phenotypic properties, and recurrence risk of 48,XYY,+21.