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    Successful obstetric and anaesthetic management of a pregnant woman with achondroplasia
    (BMJ Publishing Group, 2017) Melekoglu R.; Celik E.; Eraslan S.
    Achondroplasia is the most prevalent form of dwarfism, and there is little evidence about the optimal management of pregnant women with achondroplasia. We presented a 25-year-old primigravid woman with achondroplasia who was followed up during the pregnancy period and performed elective caesarean section with combined spinal-epidural anaesthesia at the 38th week of gestation. Frequent obstetric follow-up visits and invasive prenatal diagnostic tests should be offered during the antenatal period due to the increased risk for obstetric complications, such as premature delivery and fetal anomalies. Prenatal detailed counselling, comprehensive evaluation of the potential risks, obstetric and perioperative management should be performed by a multidisciplinary care team, including an obstetrician, anaesthesiologist, pulmonologist, cardiologist and neonatologist. © BMJ Publishing Group Ltd (unless otherwise stated in the text of the article) 2017. All rights reserved.
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    XPD and XRCC1 gene polymorphism in patients with normal and abnormal cervical cytology by pap smear.
    (2012) Yilmaz E.; Celik O.; Celik E.; Turkcuoglu I.; Simsek Y.; Karaer A.; Otlu B.
    The purpose of the present study was to identify the role of abnormalities in DNA repair pathways by measuring the XPD and XRCC1 gene polymorphisms. Thirty-five patients with abnormal cervical cytology (study group) and 10 women with normal cytology (control group) were included in the study. The polymorphisms of XRCC1 Arg194Trp, XRCC1 Arg399Gln and XPD Lys751Gln genes were investigated from the blood samples. There was no statistically significant difference in allele frequencies of XPD gene among the groups (p = 0.097), while XRCC1R399Q gene polymorphism was strikingly more frequent in the study group than that of control cases (p = 0.029). The prevalence of XRCC1R194W gene polymorphism on the other hand, was similar between the groups (p = 0.579). Patients with abnormal and normal cervical cytology have similar XPD gene polymorphism. However, the frequency of gene polymorphism in XRCC1 Arg 399 Gln codon was significantly higher in abnormal cervical cytology group.