Browsing by Author "Akcay, Teoman"

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    Cathepsin K analysis in a pycnodysostosis cohort: demographic, genotypic and phenotypic features
    (BIOMED CENTRAL LTD, 2014-01-01) Arman, Ahmet; Bereket, Abdullah; Coker, Ajda; Kiper, Pelin Ozlem Simsek; Guran, Tulay; Ozkan, Behzat; Atay, Zeynep; Akcay, Teoman; Haliloglu, Belma; Boduroglu, Koray; Alanay, Yasemin; Turan, Serap
    Background: To characterize cathepsin K (CTSK) mutations in a group of patients with pycnodysostosis, who presented with either short stature or atypical fractures to pediatric endocrinology or dysmorphic features to pediatric genetics clinics. Methods: Seven exons and exon/intron boundaries of CTSK gene for the children and their families were amplified with PCR and sequenced. Sixteen patients from 14 families with pycnodysostosis, presenting with typical dysmorphic features, short stature, frequent fractures and osteosclerosis, were included in the study. Results: We identified five missense mutations (M1I, I249T, L7P, D80Y and D169N), one nonsense mutation (R312X) and one 301 bp insertion in intron 7, which is revealed as Alu sequence
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    Incidence of Type 1 Diabetes in Children Aged Below 18 Years during 2013-2015 in Northwest Turkey
    (GALENOS YAYINCILIK, 2018-01-01) Poyrazoglu, Sukran; Bundak, Ruveyde; Abali, Zehra Yavas; Onal, Hasan; Sarikaya, Sevil; Akgun, Abdurrahman; Bas, Serpil; Abali, Saygin; Bereket, Abdullah; Eren, Erdal; Tarim, Omer; Guven, Ayla; Yildiz, Metin; Aksakal, Derya Karaman; Yuksel, Aysegul; Karabulut, Gulcan Seymen; Hatun, Sukru; Ozgen, Tolga; Cesur, Yasar; Azizoglu, Mehmet; Dilek, Emine; Tutunculer, Filiz; Cakir, Esra Papatya; Ozcabi, Bahar; Evliyaoglu, Olcay; Karadeniz, Songul; Dursun, Fatma; Bolu, Semih; Arslanoglu, Ilknur; Mutlu, Gul Yesiltepe; Kirmizibekmez, Heves; Isguven, Pinar; Ustyol, Ala; Adal, Erdal; Ucar, Ahmet; Cebeci, Nurcan; Bezen, Didem; Binay, Cigdem; Semiz, Serap; Korkmaz, Huseyin Anil; Memioglu, Nihal; Sagsak, Elif; Peltek, Havva Nur; Yildiz, Melek; Akcay, Teoman; Turan, Serap; Guran, Tulay; Atay, Zeynep; Akcan, Nese; Cizmecioglu, Filiz; Ercan, Oya; Dagdeviren, Aydilek; Bas, Firdevs; Issever, Halim; Darendeliler, Feyza
    Objective: To assess the incidence of type I diabetes mellitus (T1DM) in children under 18 years of age in the northwest region of Turkey during 2013-2015. Methods: All newly diagnosed T1DM cases were recorded prospectively during 2013-2015. Total, as well as gender and age group specific (0-4, 5-9. 10-14 and 15-17 age) mean incidences per 100,000 per year were calculated. Results: There were 1,773 patients diagnosed during 2013-2015 (588 cases in 2013, 592 cases in 2014, 593 cases in 2015). Of these, 862 (48.6 \%) were girls and 911 (51.4\%)were boys. The mean age at diagnosis was 9.2 +/- 4.2 years and it was not significantly different between girls (9.0 +/- 4.1 years) and boys (9.4 +/- 4.4 years) (p = 0.052). The crude mean incidence was 8.99/100.000 confidence interval (CI) (95\% CI: 8.58-9.42). Although mean incidence was similar between boys {[}8.98/100.000 (CI: 8.40 to 9.58)] and girls {[}9.01/100.000 (CI: 8.42 to 9.63)], there was male predominance in all groups except for 5-9 year age group. The standardized mean incidence was 9.02/100.000 according to the World Health Organization standard population. The mean incidence for the 0-4, 5-9, 10-14 and 15-17 age groups was 6.13, 11.68, 11.7 and 5.04/1 00.000 respectively. The incidence of T1DM was similar over the course of three years (p = 0.95). A significant increase in the proportion of cases diagnosed was observed in the autumn-winter seasons. Conclusion: The northwest region of Turkey experienced an intermediate incidence of T1DM over the period of the study.