Bahar Ozcabi
Istanbul University
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Featured researches published by Bahar Ozcabi.
Journal of Clinical Research in Pediatric Endocrinology | 2015
Olcay Evliyaoglu; Manolya Acar; Bahar Ozcabi; Ethem Erginöz; Feride Bucak; Oya Ercan; Mine Kucur
Objective: Vitamin D has been suggested to be active as an immunomodulator in autoimmune diseases such as Hashimoto’s thyroiditis (HT). The goal of the present study was to investigate the vitamin D status in HT patients. Methods: This prevalence case-control study was conducted on 90 patients with HT (of ages 12.32±2.87 years) and 79 age-matched healthy controls (11.85±2.28 years). Serum 25-hydroxyvitamin D3 [25(OH)D3] levels were measured in all 169 subjects. Results: The prevalence of vitamin D deficiency in HT patients (64 of 90; 71.1%) was significantly higher than that in the control group (41 of 79; 51.9%) (p=0.025). Mean serum 25(OH)D3 level in the HT group was significantly lower compared to the control group (16.67±11.65 vs. 20.99±9.86 ng/mL, p=0.001). HT was observed 2.28 times more frequently in individuals with 25(OH)D3 levels <20 ng/mL (OR: 2.28, CI: 1.21-4.3). Conclusion: Vitamin D deficiency is associated with HT in children and adolescents. Levels lower than 20 ng/mL seem to be critical. The mechanism for this association is not clear.
Journal of Clinical Research in Pediatric Endocrinology | 2013
Olcay Evliyaoglu; İpek Dokurel; Feride Bucak; Bahar Ozcabi; Oya Ercan; Serdar Ceylaner
Adrenal hypoplasia congenita (AHC) is a rare disorder. The X-linked form is related to mutations in the DAX1 (NROB1) gene. Here, we report a newborn who had a novel hemizygous frameshift mutation in DAX1 (c.543delA) and presented with primary adrenal failure that was initially misdiagnosed as congenital adrenal hyperplasia. This report highlights the value of genetic testing for definite diagnosis in children with primary adrenal failure due to abnormal adrenal gland development, providing the possibility both for presymptomatic, and in cases with a sibling with this condition, for prenatal diagnosis. Conflict of interest:None declared.
Journal of Clinical Research in Pediatric Endocrinology | 2018
Şükran Poyrazoğlu; Rüveyde Bundak; Zehra Yavaş Abal; Sevil Sarıkaya; Abdurrahman Akgün; Serpil Bas; Saygin Abali; Abdullah Bereket; Erdal Eren; Omer Tarim; Ayla Güven; Metin Yildiz; Derya Karaman Aksakal; Aysegul Bute Yuksel; Gülcan Seymen Karabulut; Şükrü Hatun; Tolga Özgen; Yaşar Cesur; Mehmet Azizoğlu; Emine Dilek; Filiz Tütüncüler; Esra Papatya Çakır; Bahar Ozcabi; Olcay Evliyaoglu; Songül Karadeniz; Fatma Dursun; Semih Bolu; Ilknur Arslanoglu; Gul Yesiltepe Mutlu; Heves Kırmızıbekmez
Objective: To assess the incidence of type 1 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 5.04/100.000 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.
Journal of Clinical Research in Pediatric Endocrinology | 2017
Olcay Evliyaoglu; Oya Ercan; Emel Ataloğlu; Ümit Zübarioğlu; Bahar Ozcabi; Aydilek Dağdeviren; Hande Erdoğan; Elisa De Franco; Sian Ellard
Neonatal diabetes mellitus is a rare form of monogenic diabetes which is diagnosed in the first six months of life. Here we report three patients with neonatal diabetes; two with isolated pancreas agenesis due to mutations in the pancreas-specific transcription factor 1A (PTF1A) enhancer and one with developmental delay, epilepsy, and neonatal diabetes (DEND) syndrome, due to a KCNJ11 mutation. The two cases with mutations in the distal enhancer of PTF1A had a homozygous g.23508363A>G and a homozygous g.23508437A>G mutation respectively. Previous functional analyses showed that these mutations can decrease expression of PTF1A which is involved in pancreas development. Both patients were born small for gestational age to consanguineous parents. Both were treated with insulin and pancreatic enzymes. One of these patients’ fathers was also homozygous for the PTF1A mutation, whilst his partner and the parents of the other patient were heterozygous carriers. In the case with DEND sydrome, a previosly reported heterozygous KCNJ11 mutation, p.Cys166Tyr (c.497G>A), was identified. This patient was born to nonconsanguineous parents with normal birth weight. The majority of neonatal diabetes patients with KCNJ11 mutations will respond to sulphonylurea treatment. Therefore Glibenclamide, an oral antidiabetic of the sulphonylurea group, was started. This treatment regimen relatively improved blood glucose levels and neurological symptoms in the short term. Because we could not follow the patient in the long term, we are not able to draw conclusions about the efficacy of the treatment. Although neonatal diabetes mellitus can be diagnosed clinically, genetic analysis is important since it is a guide for the treatment and for prognosis.
Journal of Clinical Research in Pediatric Endocrinology | 2016
Bahar Ozcabi; Feride Bucak; Sevinç Jaferova; Çiğdem Oruç; Amra Adrovic; Serdar Ceylaner; Oya Ercan; Olcay Evliyaoglu
Vitamin D-dependent rickets type 1A (VDDR-1A) (Online Mendelian Inheritance in Man #264700) is a rare, autosomal recessively inherited disorder due to inactivating mutations in CYP27B1. It is characterized by early onset of rickets with hypocalcemia. We aimed to describe the clinical and laboratory findings in a VDDR-1A case and to report a novel homozygote truncating mutation NM_000785.3 c.403C>T (p.Q135*) in CYP27B1 which to our knowledge is the first described mutation in the Uzbek population. The patient was admitted with tetany at the age of 12 months. He was a healthy Uzbek boy until 9 months of age when he had a seizure due to hypocalcemia. Vitamin D treatment was given orally in Turkmenistan (no data available for dose and duration). The patient was the product of a consanguineous marriage. His brother had died with hypocalcemia and pneumonia. At physical examination, anthropometric measurements were within normal limits; he had caput quadratum, enlarged wrists, and carpopedal spasm. Blood calcium, phosphorus, alkaline phosphatase, and parathormone (PTH) levels were 5.9 mg/dL, 3.5 mg/dL, 987 IU/L, and 182.8 pg/mL (12-72), respectively. Radiological findings included cupping and fraying of the radial and ulnar metaphyses. Renal ultrasound revealed nephrocalcinosis (grade 1). Despite high serum PTH and 25-hydroxyvitamin D3 levels, 1,25-dihydroxyvitamin D3 level was low, suggesting a diagnosis of VDDR-1A. The patient was treated with calcium carbonate and calcitriol. DNA sequencing revealed a novel homozygous mutation of NM_000785.3 c.403C>T (p.Q135*) in CYP27B1. VDDR-1A is a rare disorder which needs to be considered even in countries where nutritional vitamin D deficiency is still common.
Pituitary | 2016
Ozlem Haliloglu; Burak Dogangun; Bahar Ozcabi; Hanife Ugur Kural; Fatma Ela Keskin; Hande Mefkure Ozkaya; Fatma Colkesen Pamukcu; Elif Bektas; Burç Çağrı Poyraz; Hakan Buber; Olcay Evliyaoglu; Pinar Kadioglu
Microbial Pathogenesis | 2017
Bekir Kocazeybek; Harika Oyku Dinc; Sevgi Ergin; Suat Saribas; Bahar Ozcabi; Utku Y. Cizmecigil; Eda Altan; Kevser Atalik; Pelin Yuksel; Zeynep Taner; Asiye Karakullukcu; Serhat Sirekbasan; Nuri Turan; Penbe Cagatay; Nergiz Imamova; Olcay Evliyaoglu; Huseyin Yilmaz
18th European Congress of Endocrinology | 2016
Olcay Evliyaoglu; Bahar Ozcabi; Emel Ataoglu; Feride Bucak; Oya Ercan
Archive | 2015
Mohammad Ajmal Masoom; Oya Ercan; Feride Bucak; Bahar Ozcabi; Olcay Evliyaoglu
54th Annual ESPE | 2015
Bahar Ozcabi; Olcay Evliyaoglu; Oya Ercan; Feride Bucak; Amra Adrovic; Serdar Ceylaner