Erhan Atahan

eNOS G894T Polymorphism and Abdominal Aortic Aneurysms

Background: The genetic risk factors that contribute to the risk of developing abdominal aortic aneurysm (AAA) are poorly understood. We assessed the association of endothelial nitric oxide synthase (eNOS) gene polymorphism with AAA. Methods: eNOS gene polymorphism of 61 patients with AAA and 62 control participants were analyzed by polymerase chain reaction (PCR)-restriction technique. Results: eNOS G894 homozygote T/T genotype polymorphism and 894T allele frequency in patients with AAA were significantly higher than those of the control participants (P = .01, P = .03). Among patients with AAA, the eNOS G894 T/T polymorphism and 894T allele frequency were associated with larger AAAs. Conclusion: The current study, in a small group of participants, showed a relationship between eNOS G894T polymorphism and AAA.

Association Between ApoE4 Allele and Deep Venous Thrombosis: A Pilot Study

Introduction: Deep vein thrombosis (DVT) is a multifactorial disease with genetic and acquired risk factors playing in concert in its pathogenesis. ApoE gene polymorphisms seem to have some impact among patients with cardiovascular disease; however, association between DVT and ApoE gene polymorphism has not been evaluated. Materials and Methods: We aimed to search the relative frequencies ApoE alleles among patients with DVT and healthy participants. We enrolled 59 consecutive patients with DVT and 59 age- and sex-matched healthy controls. Results: In the DVT group, E3/E4 gene polymorphism was detected in 20 patients (33.9%), in the control group E3/E4 polymorphism was detected in six patients (10.2%; P = .002). In the multivariable regression analysis, E3/E4 was independently associated with 1.31-fold increased risk of DVT (odds ratio [OR] 1.31; 95% confidence interval [CI], 1.30-10.48). Conclusion: It seems there is a relationship between ApoE3/E4 gene polymorphism and DVT in the Turkish population. However, this pilot study should be supported with large-scale studies.

Ateroskleroz ile il-1α (interleukin-1α -889 c/t) gen polimorfizmi arasındaki ilişkinin araştırılması

Amac. Genetik ve cevresel faktorler arasindaki iliski sonucu ortaya cikan kardiyovaskuler hastaliklarin gelisiminde inflamasyon anahtar rol oynamaktadir. Interlokin-1α (IL-1α) nin proinflamasyon regulasyonunda onemli rolu vardir. Bu calismada IL-1α-889 C/T polimorfizmi ile ateroskleroz arasindaki iliskinin arastirilmasi amaclanmistir. Yontem. Bu calisma populasyonu 117 hasta (Grup I) ve 117 saglikli (Grup II) bireyden olusmustur. Grup I ve Grup II deki bireylerin genomik DNA’si izole edildi. IL-1α genotipleri rastgele secilen orneklerden direkt dizi analizi yapilarak dogrulandi. Bulgular. Grup I 78 erkek ve 39 kadin bireyden, Grup II ise 49 erkek ve 68 kadin bireyden olusmaktadir. Grup I bireylerin yas ortalamasi 61,06; Grup II bireylerin yas ortalamasi ise 59,47’dir. Grup I’de 43 bireyde, Grup II’de ise 28 bireyde yuksek kolesterol (total kolesterol > 200 mg/dL) bulundu. Grup I’de 62 bireyde, Grup II’de 51 bireyde sigara iciciligi bulundu. Grup I’de 81 bireyde yuksek tansiyon ( sistolik kan basinci > 140 mmHg ve/veya diyastolik kan basinci > 90 mmHg), 42 bireyde diyabet, Grup II’de 32 bireyde yuksek tansiyon, 41 bireyde diyabet bulundu. Aterosklerotik Grup I’de CC genotip tasiyan bireyler grubun %54,70’ini, CT genotip tasiyan bireyler %35,04’nu ve TT genotip tasiyan bireyler ise %10,25’ini olusturmaktadir. Grup II’de ise bu oranlar CC genotip tasiyanlarda %59,82; CT genotip tasiyanlarda %30,76 ve TT genotip tasiyanlarda %9,40 olarak saptanmistir. IL-1α polimorfizmi icin C allel frekansi Grup II’de %75,21 ve Grup I’de %72,22’dir. T allel frekansi dagilimi Grup II’de %24,78 ve Grup I’de ise %27,77’dir. Sonuc. Koroner Arter hastaligi olan Grup I ile, kontrol grubu olan Grup II arasinda yas, cinsiyet dagilimi, hipertansiyon ve hiperkolesterolemi acisindan istatistiksel olarak anlamli bir iliski saptanmistir. Grup I ile Grup II arasinda IL-1α-889 C/T gen polimorfizmi acisindan istatistiksel olarak anlamli bir iliski saptanmamistir.

PP-020 THE MYOCARDIAL INFARCTION IN A YOUNG WOMAN WITH HETEROZYGOUS MTHRF AND PAI-1 GENE MUTATIONS

Myocardial infarction in young patient accounts for 6% of all myocardial infarctions. Unlike older patients, the cause of the myocardial infarction in approximately 20% of young patients is not related to atherosclerosis. In this study, we report a case of myocardial infarction at a young woman who do not have classical risk factors for coronary artery disease, however, who was heterozygous for the methylene tetrahydrofolate reductase C677T/G gene mutation and plasminogen activator inhibitor1 4G/5G gene variant. Urgent coronary angiography revealed multi-vessel coronary disease, severe stenosis of the proximal left anterior descending artery, total occlusion of the first diagonal artery, and severe stenosis of the proximal circumflex artery. The lesions were thought to be not suitable for percutaneous revascularization and coronary by-pass surgery was performed. The postoperative course was uneventful and she was discharged on 8 th day. In conclusion, coronary artery disease in young patient especially without classical risk factors, we suggest that prothrombotic factors should be evaluated.

Venöz girişimler arteriyovenöz fistüle yol açar mı

Ozet Edinsel arteriyovenoz fistuller (AVF) penetran travmalar sonrasinda gelisebilir. Ondort yasinda erkek hasta, skrotumda ekimoz nedeniyle hastanemize yatirildi. Sarilik nedeniyle 3 yasinda baska bir merkezde tedavi amacli venoz girisimde gecirmis olan olgunun yapilan muayenesinde hastada sag on kolda, antekubital bolgede AVF saptandi. Olgu sunumu venoz girisimler sonucunda AVF gelisebilecegini animsatmak amaciyla yapildi. Anahtar kelimeler: Arteriyovenoz fistul, venoz girisim, devamli ufurum Abstract Acquired arteriovenous fistulas (AVF) may be induced as a result of penetrant trauma. A 14-year-old boy was hospitalized for ecchymosis on his scrotum. He underwent venous access procedure in another medical center because of jaundice at 3 years of age. At examination we found an AVF on antecubital region of forearm. We wanted to remind that venous access may lead to arteriovenous fistula formation. Keywords: Arteriovenous fistula, venous access , machinery murmur