Browsing by Author "Mutlu, Gul Yesiltepe"

Filter results by typing the first few letters
Now showing 1 - 2 of 2
  • No Thumbnail Available
    Item
    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.
  • Thumbnail Image
    Item
    Novel MASP1 mutations are associated with an expanded phenotype in 3MC1 syndrome
    (BIOMED CENTRAL LTD, 2015-01-01) Atik, Tahir; Koparir, Asuman; Bademci, Guney; Foster II, Joseph; Altunoglu, Umut; Mutlu, Gul Yesiltepe; Bowdin, Sarah; Elcioglu, Nursel; Tayfun, Gulsen A.; Atik, Sevinc Sahin; Ozen, Mustafa; Ozkinay, Ferda; Alanay, Yasemin; Kayserili, Hulya; Thiel, Steffen; Tekin, Mustafa
    Background: 3MC1 syndrome is a rare autosomal recessive disorder characterized by intellectual disability, short stature and distinct craniofacial, umbilical, and sacral anomalies. Five mutations in MASP1, encoding lectin complement pathway enzymes MASP-1 and MASP-3, have thus far been reported to cause 3MC1 syndrome. Only one previously reported mutation affects both MASP-1 and MASP-3, while the other mutations affect only MASP-3. Methods: We evaluated six unrelated individuals with 3MC1 syndrome and performed Sanger sequencing for all coding exons of MASP1. We also measured complement lectin and alternative pathway activities in an affected individual's serum. Results: We found two novel splice site mutations, c.1012-2A > G in one and c.891 + 1G > T in two probands, and three novel missense mutations, c.1451G > A (p.G484E), c.1657G > A (p.D553N), and c.1987G > T (p.D663Y). Missense mutations affect only MASP-3, while splice site mutations affect both MASP-1 and MASP-3. In a proband who is homozygous for c.891 + 1G > T, we detected a total lack of lectin complement pathway activity and a 2.5-fold lower alternative pathway activity. The phenotype observed in patients whose both MASP-1 and MASP-3 are affected and in those whose only MASP-3 is affected does not appear to be different. We observed structural brain abnormalities, neonatal tooth, a vascular anomaly and a solid lesion in liver as novel phenotypic features of 3MC1 syndrome. Conclusion: Novel mutations and additional phenotypic features expand the genotypic and phenotypic spectrum of 3MC1 syndrome. Although patients with MASP-1 dysfunction in addition to disrupted MASP-3 have an altered complement system, their disease phenotype is not different from those having only MASP-3 dysfunction.