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Öğe Familial mediterranean fever in children from the Aegean region of Turkey: Gene mutation frequencies and phenotype–genotype correlation(Turkiye Klinikleri Journal of Medical Sciences, 2015) Yilmaz E.; Dinçel N.; Sözeri B.; Özdemir K.; Kaplan Bulut İ.; Berdeli A.; Mir M.S.Background/aim: Familial Mediterranean fever (FMF) is diagnosed by fever episodes with sterile peritonitis, arthritis, pleurisy, and erysipelas-like erythema. The relationship between phenotype and genotype in FMF has not been adequately explained. The aim of this study was to characterize the phenotype and genotype correlation in FMF. Materials and methods: Clinical diagnosis of FMF was conducted according to the Tel Hashomer criteria. Pras scoring was used to determine clinical severity. FMF strip assay analysis was used, and the hotspot regions were observed with PCR amplification and automatic DNA sequence analysis method. Results: We showed commonly seen mutations (most frequently M694V) in a study group of 191 patients. The disease severity score of patients with M694V mutation was high on the Pras scoring system. Patients with M694V mutation needed high colchicine dosages to control disease activity. R202Q was the most commonly seen polymorphism in 70 patients. The coexpression of R314R single nucleotide polymorphism on third exon was shown in our study. Moreover, D102D, G138G, and A165A subhaplotypes and E474E, Q476Q, and D510D subhaplotypes were also shown. Conclusion: DNA sequence analysis should be a commonly used method for progress in the field of molecular genetics and for the better understanding of the FMF phenotype and genotype relationships in all populations. © TÜBİTAK.Öğe The prevalence of microalbuminuria and relevant cardiovascular risk factors in Turkish hypertensive patients(2011) Kozan Ö.; Özcan E.E.; Sancaktar O.; Kabakci G.; Sözcüer A.H.; Kerpeten A.; Delice A.; Içli A.; Sökmen A.; Gürlek A.; Abaci A.; Bayram A.; Köşüş A.; Çamsari A.; Sakalli A.; Sert A.; Temizhan A.; Yilmaz A.; Daver A.; Aydinlar A.; Ergin A.; Kiliçoglu A.E.; Birdane A.; Aribaş A.; Lazoglu A.; Özdemir A.; Fiskeci A.; Çelik A.; Bitigen A.; Keskin A.; Yavuz A.; Akyüz A.; Karanfil A.; Ünsal A.; Sinci A.; Gülmez A.U.; Irmak A.; Vural A.; Güven A.; Ilerigelen B.; Erol B.; Polat B.; Tosun B.; Agçal C.; Genç C.; Kirdar C.; Rezzagil C.; Köz C.; Nazli C.; Ceyhan C.; Örem C.; Uyan C.; Türkoglu C.; Gaffari D.; Aytekin D.; Ural D.; Yeşilbursa D.; Aras D.; Semiz E.; Koçak E.; Atalar E.; Varol E.; Onrat E.; Şensoy E.; Acartürk E.; Akarca E.; Aygün E.; Ertaş F.S.; Koca F.; Özmen F.; Ulusoy F.V.; Özerkan F.; Inceer F.K.; Dönmez G.; Topkara G.; Daş G.; Bozkurt H.; Kültürsay H.; Tikiz H.; Akgöz H.; Kaymak H.; Öney H.; Yegin H.; Boga H.; Gök H.; Vural H.; Atasever H.; Arinç H.; Bozdemir H.; Gündüz H.; Tunar H.; Atmaca H.; Dogru I.; Özdogru I.; Susal I.; Kurt I.T.; Dinçer I.; Biyik I.; Tandogan I.; Jordan J.; Kulan K.; Şahna K.; Öztaş K.; Dönmez K.; Övünç K.; Kaya K.; Aytemir K.; Özdemir K.; Tigen K.; Saraç L.; Sirkeci M.T.; Çakmak M.; Şahin M.; Kutlu M.; Bilge M.; Bostan M.; Melek M.; Sunay M.Ö.; Şeker M.; Güçel M.Ş.; Yazici M.; Kayikçioglu M.; Öç M.; Gürsürer M.; Dagalp M.; Bilaloglu M.; Yalçin M.; Şerifi M.; Gökçe M.; Kiliçkap M.; Polat M.; Şan M.; Tahtasiz M.; Yilmaz M.; Etemoglu M.; Coşkun N.; Aran N.S.; Ata N.; Sönmez N.; Çam N.; Koylan N.; Özer N.; Keser N.; Döven O.; Tartanoglu O.; Ergene O.; Elönü O.H.; Onbaşili O.A.; Özbek Ö.; Pinar P.; Akdemir R.; Kargin R.; Topsakal R.; Yoldaş R.; Uçar R.; Ateşal S.; Toktaş S.; Cinsoy S.; Güleç S.; Aytekin S.; Çolak S.; Mecit S.; Sakalli S.; Sevimli S.; Topaloglu S.; Aydogdu S.; Turan S.C.; Kahraman S.; Yorganci S.; Coşkun Ş.; Ünal Ş.; Durmaz T.; Ulusoy T.; Keleş T.; Kirat T.; Gündogdu T.T.; Peker T.; Sümerkan U.; Aytekin V.; Koca V.; Çam V.; Gökçe V.; Gürlertop Y.; Balbay Y.; Çavuşoglu Y.; Erzurum Y.; Selçoki Y.; Yakar Y.; Işilak Z.; Tosun Z.; Kaplan Z.; Tartan Z.Objectives: A growing body of data illustrates the importance of microalbuminuria (MAU) as a strong predictor of cardiovascular risk in the hypertensive population. The present study was designed to define the prevalence of MAU and associated cardiovascular risk factors among Turkish hypertensive outpatients. Study design: Representing the Turkish arm of the multinational i-SEARCH study involving 1,750 sites in 26 countries around the world, a total of 1,926 hypertensive patients from different centers were included in this observational and cross-sectional survey study. Patients with reasons for a false-positive MAU test were excluded. The prevalence of MAU was assessed using a dipstick test, and patients were inquired about comorbidities, comedication, and known cardiovascular risk factors. Results: The overall prevalence of MAU was 64.7% and there was no difference between genders. Most of the patients (82.5%) had uncontrolled hypertension, 35.6% had dyslipidemia, and 35.5% had diabetes, predominantly type 2. Almost one-third of the patients (26.4%) had at least one cardiovascular-related comorbidity, with 20.3% having documented coronary artery disease (CAD). Almost all patients (96.8%) had one or more risk factors for cardiovascular disease in addition to hypertension, including family history of myocardial infarction or CAD, diabetes, dyslipidemia, lack of physical exercise, and smoking. A trend towards higher MAU values in the presence of CAD was determined. Conclusion: Microalbuminuria tests should be routinely used as a screening and monitoring tool for the assessment of subsequent cardiovascular morbidity and mortality among hypertensive patients. © 2011 Turkish Society of Cardiology.Öğe Trace determination of DNA in an amaryllidaceae plant, Narcissus tazetta by square-wave stripping voltammetry based on guanine signal(2007) Yardim Y.; Şentürk Z.; Özsöz M.; Özdemir K.; Atalan E.This study is, to our knowledge, the first application of electrochemical DNA biosensor for the quantification of DNA in plant extracts. The DNA biosensor was assembled by immobilizing the double-stranded fish sperm DNA on the surface of a singleuse pencil graphite electrode. Square-wave voltammetric method with the baseline correction was carried out to evaluate the oxidation signal of the guanine base. The experimental variables such as solution pH, buffer concentration, immobilization time, stirring speed, and square-wave parameters were optimized. The extremely low detection limit (0.36 ng/mL) was coupled to a good surface-to-surface reproducibility (a relative standard deviation of 8.4% for 7 repetitive measurements of 40 ng/mL). The renewable and low-cost DNA biosensor developed in this study using pencil graphite electrode was applied to the determination of DNA isolated from an Amaryllidaceae plant, Narcissus tazetta.