Browsing by Author "Bundak, Ruveyde"

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A Novel TBX19 Gene Mutation in a Case of Congenital Isolated Adrenocorticotropic Hormone Deficiency Presenting with Recurrent Respiratory Tract Infections
(FRONTIERS MEDIA SA, 2017-01-01) Akcan, Nese; Serakinci, Nedime; Turkgenc, Burcu; Bundak, Ruveyde; Bahceciler, Nerin; Temel, Sehime G.
Introduction: Congenital isolated adrenocorticotropic hormone deficiency (CIAD) is a rare disease characterized by low adrenocorticotropic hormone (ACTH) and cortisol levels. To date, recurrent pulmonary infections in infancy have not been reported as an accompanying symptom of CIAD. Case presentation: A 7-year-old boy was hospitalized nine times for recurrent lower respiratory tract infections. The results of all tests for the possible causes of wheezing were within the normal limits. His ACTH and cortisol levels were persistently low. All other pituitary hormone levels, and adrenal ultrasound and pituitary magnetic resonance imaging results, were normal. Molecular analyses confirmed the diagnosis of CIAD by identifying compound heterozygosity for two mutations in the TBX19 gene. The first was a novel frameshift c. 665delG variant in exon 4 of the TBX19 gene, leading to premature termination that was predicted to result in a non-functional truncated protein. The second was a nonsense C-to-T transition in exon 6 of the TBX19 gene, resulting in an arg286-to-ter mutation (dbSNP: rs74315376). Both parents were heterozygous for one of the mutations. Conclusion: Here, we presented a new mutation in the TBX19 gene in a patient with CIAD who presented with recurrent respiratory tract infections. This expands the mutation spectrum in this disorder. To conclude, adrenal insufficiency should be considered in patients with unexplained recurrent infections to prevent a delay in diagnosis.
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.