Inspection of endothelial nitric oxide synthase gene polymorphism in patients with henoch schönlein purpura

Objectives: This study aims to investigate the effect of Glu298Asp polymorphism, which is observed at endothelial nitric oxide synthase isoform particularly, having a significant impact on endothelial functions of nitric oxide synthase gene and on vascular system in patients with Henoch Schönlein purpura (HSP). Patients and methods: Ninety-five patients who were diagnosed with HSP and 93 healthy controls without any previous vascular disease, hypertension and other cardiovascular diseases were included in this study. The patient group was compared with the controls for Glu298Asp genotype and allele frequencies. The patients were classified according to the clinical complications and were compared with controls and also each other for allele and genotype frequencies. Real-time polymerase chain reaction and LightCycler 2.0 system were used. Results: There was no statistically significant difference in the genotype frequencies between the HSP patients and healthy controls. No significant differences in Glu298Asp gene polymorphism among the patient groups were observed. However, polymorphism had an significant effect on patients with all involvements statistically (P TT0.001, PGG0.000). Conclusion: We conclude that Glu298Asp polymorphism has no effect on the development of HSP vasculitis; however, it may have an impact on the clinical progress of the existing disease

Management of Amniocentesis in High Risk Pregnancies and The Evaluation of the Results

OBJECTIVE: To evaluate amniocentesis results applied to high risk pregnancies in our clinic. STUDY DESIGN: In this study, we have perf ormed amniocentesis in 16th-24th weeks of 447 pregnancies who had previous history of chromosomally abnormal fetus, high risk in triple test screening, in which abnomal fetus was seen in ultrasonography, high maternal anxiety, and maternal age 35 years old and above. Cytogenetic analyses were applied to all specimens. RESULTS: Appropriate amount of amniotic fluid was obtained by 98.65%, the successful culture rate was 97.31%, cardocentesis was applied to only one case of 12 cases in which no prolif eration was detected in culture The cordocentesis result was 47XX+18. According to cytogenetic evaluation results, chromosomal abnormality was detected in 29 cases (6.65%). In 7 patients Trisomy 21, in 3 cases Trisomy 18, in one case Trisomy 13, in 3 cases triploidy (69,XXX), in one case mosaicism (46XY/47XYY), in 5 cases translocation, in 9 cases inversion type chromosomal abnormality was detected. After 447 amniocentesis, 5 (1.11%) fetal losses developed. In 2 cases the leakage of amniotic fluid, in one case premature rupture of membranes, in one case cramps and vaginal bleeding and in only one case spontaneous abortus was detected. When the maternal educational level of the cases were evaluated, it was f ound that about one half of the cases had high level education. CONCLUSIONS: If amniocentesis is carried out by highly skilled physicians and if optimal culture conditions are available, amniocentesis is avaluable invasive prenatal diagnosis method with high accuracy and safety, with minimal complications

Genetik Amniyosentez Sonuçlarımız: 3721 Vakanın Analizi

Amaç: İkinci trimester genetik amniyosentez ile fetal kromozomal anomalileri saptamada 7 yıllık prenatal tanı verilerinin retrospektif olarak analizi.Gereç ve Yöntem: Veriler Meram Tıp Fakültesi Kadın Hastalıkları ve Doğum Anabilim Dalı'nda Ocak 2007 ile Ocak 2014 tarihleri arasında yapılan ikinci trimester genetik amniyosentezlerin amniyosit kültürü sitogenetik analizi verilerinden oluşturulmuştur. Amniyosentez için ana endikasyonlar ileri anne yaşı, anormal maternal serum taraması sonuçları ve anormal ultrason bulgularından oluşmaktadır. Kromozomal anomaliler; otozomal anöploidiler, seks kromozomu anöploidileri, poliploidiler ve yeniden düzenlenmeleri kapsamaktadır. Bulgular: Kromozomal anomalilerin teşhisi için toplam 3721 amniyosentez yapıldı. Bunların 1677'si (%45.1) anormal maternal serum taraması sonuçları, 1332'si (%35.8) ileri anne yaşı, 586'sı (%15.8) anormal ultrason bulguları ve 126'sı da (%3.3) diğer nedenlerle yapıldı. Kromozomal anomali toplam 131 (%3.6) vakada tespit edildi. Bunların 53'ü ileri anne yaşı, 37'si anormal serum tarama testi sonucu, 34'ü anormal ultrason bulguları ve 7'si diğer nedenlerle amniyosentez yapılan vakalardı. Kromozomal anomali teşhis edilen hastaların 106'sında (%80.9) sayısal kromozomal anomali vardı. Diğer 25 (%19.1) hastada ise yapısal kromozomal anomali tespit edildi. Sonuçlar: Verilerimiz terminasyon konuları ve sonraki gebelikler ile ilgili olarak günlük pratikte uygun genetik danışmanlık sağlanabilmesi için bir veritabanı sağlayabilir.Genetic amniocentesis results: analysis of the 3721 casesObjective: To retrospectively investigate the 7-year experience of prenatal diagnosis of fetal chromosome aberrations by second-trimester genetic amniocentesis.Material and Method: Data were collected at Meram Medical Faculty Obstetric and Gynecology Department between January 2007 and January 2014 from cytogenetic analyses of cultured amniocytes from second-trimester amniocentesis. The main indications for amniocentesis included advanced maternal age, abnormal maternal serum screening results, and abnormal ultrasound findings. Chromosome aberrations included autosomal aneuploidies, sex chromosome aneuploidies, polyploidies, and rearrangements. Results: A total of 3702 amniocenteses were performed and analyzed for chromosome aberrations. Among these, 1677 (45.1%) were for abnormal maternal serum screening results, 1332 (35.8%) for advanced maternal age, 586 (15.8%) for abnormal ultrasound findings, and 126 (3.3%) for other reasons. Chromosome aberrations were detected in 131 (3.6%) cases, including fetuses of 53 older mothers, 37 mothers with abnormal serum screening results, 34 mothers with abnormal ultrasound findings, and 7 mothers with other reasons for amniocentesis. Of fetuses with chromosome aberrations, 106 (80.9%) had numerical chromosomal disorder. The other 25 (19.1%) cases included structural chromosomal disorder.Conclusions: For daily practice, our data could offer a database for proper genetic counseling, such as termination issues and future pregnancies