Browsing by Author "Abali, Saygin"

Now showing 1 - 7 of 7

A novel deletion involving the first GNAS exon encoding Gs alpha causes PHP1A without methylation changes at exon A/B
(ELSEVIER SCIENCE INC, 2022-01-01) Campbell, Devon; Reyes, Monica; Kaygusuz, Sare Betul; Abali, Saygin; Guran, Tulay; Bereket, Abdullah; Kagami, Masayo; Turan, Serap; Juppner, Harald
Individuals affected by pseudohypoparathyroidism type 1A (PHP1A) display hyperphosphatemia and hypocalcemia despite elevated PTH levels, as well as features of Albright Hereditary Osteodystrophy (AHO). PHP1A is caused by variants involving the maternal GNAS exons 1-13 encoding the stimulatory G protein alpha-subunit (Gs alpha). MLPA and aCGH analysis led in a male PHP1A patient to identification of a de novo 1284-bp deletion involving GNAS exon 1. This novel variant overlaps with a previously identified 1438-bp deletion in another PHP1A patient (ref. Li et al. (2020) {[}13], patient 2) that extends from the exon 1 promoter into the up-stream intronic region. This latter deletion is associated with reduced methylation at GNAS exon A/B, i.e. the differentially methylated region (DMR) that is demethylated in most pseudohypoparathyroidism type 1B (PHP1B) patients. In contrast, genomic DNA from our patient revealed no evidence for an epigenetic GNAS defect as determined by MS-MLPA and pyrosequencing. These findings thus reduce the region, which, in addition to other nucleotide sequences telomeric of exon A/B, may undergo histone modifications or interacts with transcription factors and possibly as-yet unknown proteins that are required for establishing the maternal methylation imprints at this site. Taken together, nucleotide deletions or changes within an approximately 1300-bp region telomeric of exon A/B could be a cause of PHP1B variants with complete or incomplete loss-of-methylation at the exon A/B DMR. In addition, when investigating patients with suspected PHP1A, MLPA should be considered to search for structural abnormalities within this difficult to analyze genomic region comprising GNAS exon 1.
Cranial MRI Abnormalities and Long-term Follow-up of the Lesions in 770 Girls With Central Precocious Puberty
(ENDOCRINE SOC, 2021-01-01) Helvacioglu, Didem; Turan, Serap Demircioglu; Guran, Tulay; Atay, Zeynep; Dagcinar, Adnan; Bezen, Digdem; Ozturan, Esin Karakilic; Darendeliler, Feyza; Yuksel, Aysegul; Dursun, Fatma; Kilinc, Suna; Semiz, Serap; Abali, Saygin; Yildiz, Metin; Onder, Asan; Bereket, Abdullah
Context: Central precocious puberty (CPP) may arise from central nervous system (CNS) lesions in a few affected girls. Recently, the incidence of girls with CPP has increased mostly in 6-8 year olds, in whom the necessity of magnetic resonance imaging (MRI) is debated. Objective: To investigate the frequency, long-term outcome and potential predictors of CNS lesions in a large cohort of girls with CPP. Methods: A multicenter cohort of 770 Turkish girls with CPP who had systematic cranial MRI between 2005 and 2017. Age at puberty onset was <6 years in 116 and 6-8 years in 654. CNS lesions were followed until final decision(6.2 +/- 3.1 years). Potential predictors of CNS lesions were evaluated by univariate analyses. Results: A total of 104/770 (13.5\%) girls had abnormal brain MRI. Of these, 2.8\% were previously known CNS lesions, 3.8\% had newly detected and causally related CNS lesions, 3.1 \% were possibly, related and 3.8\% were incidental. Only 2 (0.25\%) neoplastic lesions (1 low grade glioma and 1 meningioma) were identified
Early Postnatal Metabolic Profile in Neonates With Different Birth Weight Status: A Pilot Study
(FRONTIERS MEDIA SA, 2021-01-01) Beken, Serdar; Abali, Saygin; Yildirim Saral, Neslihan; Guner, Bengisu; Dinc, Taha; Albayrak, Eda; Ersoy, Melike; Kilercik, Meltem; Halici, Muge; Bulbul, Ezgi; Kaya, Didem; Karabay, Melis; Ay, Zeynep Alize; Eksi, Gulten Zeynep; Benli Aksungar, Fehime; Korkmaz, Ayse; Serteser, Mustafa
Introduction: Restricted or enhanced intrauterine growth is associated with elevated risks of early and late metabolic problems in humans. Metabolomics based on amino acid and carnitine/acylcarnitine profile may have a role in fetal and early postnatal energy metabolism. In this study, the relationship between intrauterine growth status and early metabolomics profile was evaluated. Materials and Methods: A single-center retrospective cohort study was conducted. Three hundred and sixty-one newborn infants were enrolled into the study, and they were grouped according to their birth weight percentile as small for gestational age (SGA, n = 69), appropriate for gestational age (AGA, n = 168), and large for gestational age (LGA, n = 124) infants. In all infants, amino acid and carnitine/acylcarnitine profiles with liquid chromatography-tandem mass spectrometry (LC-MS/MS) were recorded and compared between groups. Results: LGA infants had higher levels of glutamic acid and lower levels of ornithine, alanine, and glycine (p < 0.05) when compared with AGA infants. SGA infants had higher levels of alanine and glycine levels when compared with AGA and LGA infants. Total carnitine, C0, C2, C4, C5, C10:1, C18:1, C18:2, C14-OH, and C18:2-OH levels were significantly higher and C3 and C6-DC levels were lower in SGA infants (p < 0.05). LGA infants had higher C3 and C5:1 levels and lower C18:2 and C16:1-OH levels (p < 0.05). There were positive correlations between free carnitine and phenylalanine, arginine, methionine, alanine, and glycine levels (p < 0.05). Also, a positive correlation between ponderal index and C3, C5-DC, C14, and C14:1 and a negative correlation between ponderal index and ornithine, alanine, glycine, C16:1-OH, and C18:2 were shown. Conclusion: We demonstrated differences in metabolomics possibly reflecting the energy metabolism in newborn infants with intrauterine growth problems in the early postnatal period. These differences might be the footprints of metabolic disturbances in future adulthood.
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.
Molecular Diagnosis of Monogenic Diabetes and Clinical/Laboratory Features in Turkish Children
(GALENOS YAYINCILIK, 2021-01-01) Goksen, Damla; Yesilkaya, Ediz; Ozen, Samim; Kor, Yilmaz; Eren, Erdal; Korkmaz, Ozlem; Berberoglu, Merih; Karaguzel, Gulay; Er, Eren; Abaci, Ayhan; Evliyaoglu, Olcay; Akbas, Emine Demet; Unal, Edip; Bolu, Semih; Nalbantoglu, Ozlem; Anik, Ahmet; Tayfun, Meltem; Buyukinan, Muammer; Abali, Saygin; Yilmaz, Gulay Can; Kor, Deniz; Sobu, Elif; Siklar, Zeynep; Polat, Recep; Darcan, Sukran
Objective: Monogenic diabetes is a heterogeneous disease that causes functional problems in pancreatic beta cells and hyperglycemia. The aim of this study was to determine the clinical and laboratory features, the admission characteristics and distribution of monogenic form of diabetes in childhood in Turkey. Methods: Patients aged 0-18 years, who were molecularly diagnosed with monogenic diabetes, and consented to participate, were included in the study. Results: Seventy-seven (45.6\%) female and 92 male cases with a mean age of 8.18 +/- 5.05 years at diagnosis were included. 52.7\% of the cases were diagnosed with monogenic diabetes by random blood glucose measurement. The reason for genetic analysis in 95 (56.2\%) of cases was having a family member diagnosed with diabetes under the age of 25. At the time of diagnosis, ketone was detected in urine in 16.6\% of the cases. Mean hemoglobin A1c on admission, fasting blood glucose, fasting insulin, and c-peptide values were 7.3 +/- 2.1\%, 184.9 +/- 128.9 mg/dL, 9.4 +/- 22.9 IU/L, 1.36 +/- 1.1 and ng/L respectively. GCK-MODY was found in 100 (59.2\%), HNF1A-MODY in 31 (18.3\%), and variants in ABCC8 in 6 (3.6\%), KCNJ11 in 5 (3\%), HNF4A in 2 (1.2\%), and HNF1B in 2 (1.2\%). Conclusion: Recent studies have indicated HNF1A-MODY is the most frequent of all the MODY-monogenic diabetes cases in the literature (50\%), while GCK-MODY is the second most frequent (32\%). In contrast to these reports, in our study, the most common form was GCK-MODY while less than 20\% of cases were diagnosed with HNF1A-MODY.
Neonatal Problems and Infancy Growth of Term SGA Infants: Does ``SGA'' Definition Need to Be Re-evaluated?
(FRONTIERS MEDIA SA, 2021-01-01) Abali, Saygin; Beken, Serdar; Albayrak, Eda; Inamlik, Aysegul; Bulum, Burcu; Bulbul, Ezgi; Eksi, Gulten Zeynep; Ay, Zeynep Alize; Karabay, Melis; Kaya, Didem; Halici, Muge; Semiz, Serap; Korkmaz, Ayse
Introduction: The exact definition of small-for-gestational-age (SGA) infant is still controversial among clinicians. In this study, we aimed to understand which definition is better in terms of establishing both early postnatal problems and growth. In this way, we compared early neonatal problems and infancy growth of term infants with birth weight (BW) < -2 SDS and with BW between 10th percentile (-1.28 SDS) and -2 SDS.Methods: A single center retrospective cohort study was conducted. Preterm infants, multiple gestations and newborns with any congenital anomalies were excluded from the study. Study group was defined as Group 1 (n = 37), infants BW < -2.00 SDS
The Distribution of Different Types of Diabetes in Childhood: A Single Center Experience
(GALENOS YAYINCILIK, 2018-01-01) Haliloglu, Belma; Abali, Saygin; Bugrul, Fuat; Celik, Enes; Bas, Serpil; Atay, Zeynep; Guran, Tulay; Turan, Serap; Bereket, Abdullah
Objective: Type I diabetes (T1D) is the most common cause of diabetes in childhood but type 2 diabetes (T2D) and maturity onset diabetes of the young (MODY) are emerging as noteworthy causes of diabetes at young ages. The aim is to determine the distribution, trends and clinical features of the different types of diabetes in childhood in one tertiary center. Methods: The records of children and adolescents aged 0-18 years who were diagnosed as ``diabetes/persistent hyperglycemia{''} between January 1999 and December 2016, were reviewed. Clinical and laboratory characteristics of the patients at diagnosis and type of diabetes were recorded. Results: The mean +/- standard deviation age of 835 patients (48.7\% females) at diagnosis was 8.8 +/- 4.4 years. Eighty-four percent of the patients were diagnosed as T1D, 5.7\% as T2D, 5.3\% as clinical MODY and 5\% as being cases of other types of diabetes. The frequency of diabetic ketoacidosis (DKA) and severe DKA in T1D were 48.4\% and 11.6\%, respectively. Fourteen patients (29.2 \%) with T2D presented with ketosis and two of them (4.2 \%) had DKA at diagnosis. Antibody positivity was 83.1 \% in T1D and 14.8\% in T2D. A statistically significant increase in the frequency of T2D has clearly been demonstrated in recent years with a frequency of 1.9\%, 2.4\% and 7.9\% in 1999-2004, 2005-2010 and 2011-2016, respectively (p <0.001). In MODY, genetic analysis was performed in 26 (59\%) patients and NNF1A and GCK gene mutations were detected in 3 (11.5\%) and 14 (53.8\%) patients, respectively. Conclusion: Although the most frequent cause of DM is T1D in childhood, a trend towards increase in the frequency of T2D in recent years is notable in our population.