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Öğe The association of paraoxonase 1 gene L55M polymorphism with the extent and severity of coronary artery disease in the Turkish population and its dependence on gender(Turkish Soc Cardiology, 2016) Kocakap, Derya Beyza Sayin; Dogru, Mehmet Tolga; Simsek, Vedat; Cabuk, Feryal; Yildirim, Nesligul; Celik, Yunus; Erdem, SolmazObjective: Coronary artery disease (CAD) is a common, complex, and progressive disorder characterized by the accumulation of lipids and fibrous elements in the arteries. It is one of the leading causes of death in industrialized nations. Oxidative modification of low-density lipoprotein (LDL) in the arterial wall plays an important role in the initiation and progression of atherosclerosis. Paraoxonase1 (PON1) is involved in lipid metabolism and is believed to protect LDL oxidation. In our study, we aimed to clarify the relationship between PON1 gene L55M polymorphism and the extent and severity of CAD. Methods: In total, 114 patients (54 males, mean age: 56.7 +/- 12.0 years; 60 females, mean age: 55.7 +/- 13.2 years) with stable angina or angina equivalent symptoms were enrolled in this prospective study. Cardiological evaluation was performed with electrocardiogram and transthoracic echocardiogram. The presence of hypertension, dyslipidemia, diabetes, and smoking status were ascertained. The patients were grouped according to their Gensini scores and gender. Genetic analysis of the PON1 gene L55M polymorphism was performed by polymerase chain reaction-restriction fragment length polymorphism. Results: We determined that the LL genotype was more prevalent in patients with Gensini score higher than or equal to 20 (p=0.026) and that this correlated with severe atherosclerotic coronary artery lesions in both gender groups, reaching a statistical significance in the female subjects (p=0.038). Conclusion: It was thought that the PON1 gene L55M polymorphism plays a significant role in CAD progression, especially in females.Öğe Determination of the Risk Group in Patients with Venous Thrombosis(Ortadogu Ad Pres & Publ Co, 2009) Eren, Pinar Ata; Denizli, Nazim; Sokmen, H. Mehmet; Erdem, Solmaz; Solak, MustafaObjective: We aimed to investigate the frequency of Factor V Leiden mutation among venous thromboembolism patients admitted to our center and we intended to detect the risk of thromboembolism in mutation carrying family members by genetic counseling. Material and Methods: In this study a total of 72 patients with venous thrombosis admitted to Haydarpasa Numune Research and Training Hospital, Genetic Diseases Diagnosis Center between January and August in 2008 were investigated for Factor V Leiden mutation. Patients were informed and their consents were obtained. All of the patients had pedigree analysis and affected family members were investigated. Genomic DNA was isolated from peripheral blood using proteinase K digestion method. Factor V gene, covering 1691. nucleotide region was amplified with appropriate oligonucleotide primers and products were analyzed with RFLP method. Results: Twenty two percent (n= 16) of the our patients had chronic renal disease with fistula problems, 17% (n= 12) had deep venous thrombosis, 32% (n= 23) had cerebrovascular accidents and the remaining 29% (n= 21) had recurrent abortus. In our center, the molecular genetic analysis for Factor V Leiden mutation 59 revealed that had a normal allele. Among the remaining 13 patients, 4 of them were detected as homozygote and 9 of them as heterozygote for the mutation. Mutation carrier status was found 18% among all patients. The risk of having at least one family member with thrombosis was 23% in mutation carrying patients' family. Conclusion; As a result of this study, the importance of molecular genetic analysis and genetic counseling for the patients admitted to our center has been demonstrated. It could be possible to detect the target risk population through investigation of thrombophilia in a larger study group.Öğe Kırıkkale’de Akraba Evlilikleri Sıklığının, Buna Etki Eden Parametrelerin Ve Kalıtsal Hastalıklara Olan Etkisinin Saptanması(2018) Erdem, Solmaz; Çakmak, Zeynep Aytül; Saygun, Meral; Kocakap, Derya Beyza Sayın; Bekmez, Sibel Alyılmaz; Arıkan, Funda BulutAMAÇ: Türkiye yaklaşık 80 milyon nüfusa sahip olup, nüfusgençlerden oluşmaktadır ve doğum hızı orta yüksektir.Yapılan çalışmalara göre 2. kuzen gibi yakın akrabalararasındaki evlilikler ortalama %20 civarında iken bu oranbölgeler arasında %3 ile %40 arasında değişmektedir.Akraba evliliklerini yerel ve bölgesel düzeyde etkileyenfaktörler sosyal, kültürel ve ekonomik değişkenlerdir. Buçalışmada, bir orta Anadolu şehri olan Kırıkkale’deakraba evliliklerinin oranı, tipleri, evlilik yaşı ve eğitimdüzeyi ile ilişkisi ve tıbbi sonuçları incelenmiştir.GEREÇ VE YÖNTEM: Şehrin farklı sosyo-ekonomikbölgelerini temsil edecek şekilde 5 mahalle belirlendi.1000 aileye anket formları verilip doldurmaları istendi.691 hanede anne ya da baba ile yapılan görüşmelerdeevlilik yaşı, eğitim düzeyleri, aile üyelerinin sağlık bilgilerisorgulandı.BULGULAR: Kırıkkale’de akraba evlilik oranı %20.4 olarakbulundu. Bunların içinde %48.9 gibi yüksek bir oranda1. kuzenler arasındaki evlilikler tespit edildi. Akrabaevlilikleri ile evlilik yaşı, eğitim düzeyleri arasında terskorelasyon izlendi. Örneklemimizde kalıtsal hastalıkolgusuyla karşılaşılmadı.SONUÇ: Kırıkkale’de akraba evlilikleri oranı yüksektir. Bubağlamda, ülkemizde akraba evliliklerini önlemek içinulusal politikalar geliştirilmelidir.