Browsing by Author "Anik, A"
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Item Experience with Real-Time Continuous Glucose Monitoring in Newborns with Congenital Hyperinsulinemic HypoglycemiaAnik, A; Türkmen, MK; Akcan, AB; Ünüvar, T; Öztürk, S; Anik, ABackground Effective treatment and close monitoring of hypoglycemia in children with congenital hyperinsulinemic hypoglycemia (CHH) is vital to prevent brain damage. The current use of capillary sampling schedules does not provide a comprehensive assessment of glycemic status and fails to detect asymptomatic hypoglycemia episodes. Aim To investigate the efficacy and accuracy of a real-time continuous glucose monitoring system (RT-CGMS) in neonates with CHH. Methods A sensor connected to RT-CGMS was inserted into the newborn patients and maintained for at least 6 days during their stay in the hospital. We compared the readings of CGMS with capillary blood glucose values using Bland-Altman analysis. Results A total of 110 blood glucose values were compared to readings from the CGMS. All results were calculated and plotted for CGMS values at 0- 4, 5-9, 10-14, 15-19, 20-24, and 25-29 min after capillary blood glucose sampling. CGMS readings were highly correlated with blood glucose values, especially during normoglycemia. In case of hypoglycemia, the mean difference between the CGMS and capillary glucose values was higher. Although the false positive rate for hypoglycemia was relatively high in CGMS, RT-CGMS may show some episodes of hypoglycemia earlier than blood measurement. Conclusion RT-CGMS is accurate during normoglycemia, and it can reduce the number of capillary blood samples in children with CHH.Item Mutation spectrum of GCK, HNF1A and HNF1B in MODY patients and 40 novel mutationsOzkinay, F; Isik, E; Simsek, DG; Aykut, A; Karaca, E; Ozen, S; Bolat, H; Atik, T; Saygili, F; Kartal, E; Gul, U; Anik, A; Tutunculer, F; Eren, E; Ozbek, MN; Bober, E; Abaci, A; Kirel, B; Ersoy, B; Buyukinan, M; Kara, C; Cakir, EP; Yildirim, R; Isguven, P; Dagdeviren, A; Agladioglu, SY; Dogan, M; Sangun, O; Arslanoglu, I; Korkmaz, HA; Temiz, F; Onay, HItem Analysis of the GCK gene in 79 MODY type 2 patients: A multicenter Turkish study, mutation profile and description of twenty novel mutationsAykut, A; Karaca, E; Onay, H; Göksen, D; Çetinkalp, S; Eren, E; Ersoy, B; Çakir, EP; Büyükinan, M; Kara, C; Anik, A; Kirel, B; Özen, S; Atik, T; Darcan, S; Özkinay, FMaturity onset diabetes is a genetic form of diabetes mellitus characterized by an early age at onset and several etiologic genes for this form of diabetes have been identified in many patients. Maturity onset diabetes type 2 [MODY2 (#125851)] caused by mutations in the glucokinase gene (GCK). Although its prevalence is not clear, it is estimated that 1%-2% of patients with diabetes have the monogenic form. The aim of this study was to evaluate the molecular spectrum of GCK gene mutations in 177 Turkish MODY type 2 patients. Mutations in the GCK gene were identified in 79 out of 177. All mutant alleles were identified, including 45 different GCK mutations, 20 of which were novel.Item Levothyroxine poisoning in children is usually benign: A multi-center experience from TurkeySen Küçük, K; Demir, S; Sevim, RD; Akgül, F; Yalçin, G; Eser, Ö; Bal, A; Ergün, E; Öztürk, S; Anik, AItem Anthropometric findings from birth to adulthood and their relation with karyotpye distribution in Turkish girls with Turner syndromeSari, E; Bereket, A; Yesilkaya, E; Bas, F; Bundak, R; Aydin, BK; Darcan, S; Dündar, B; Büyükinan, M; Kara, C; Adal, E; Akinci, A; Atabek, ME; Demirel, F; Çelik, N; Öakan, B; Özhan, B; Orbak, Z; Ersoy, B; Dogan, M; Atas, A; Turan, S; Göksen, D; Tarim, Ö; Yüksel, B; Ercan, O; Hatun, S; Simsek, E; Ökten, A; Abaci, A; Döneray, H; Özbek, MN; Keskin, M; Önal, H; Akyürek, N; Bulan, K; Tepe, D; Emeksiz, HC; Demir, K; Kizilay, D; Topaloglu, AK; Eren, E; Özen, S; Demirbilek, H; Abali, S; Akin, L; Eklioglu, BS; Kaba, S; Anik, A; Bas, S; Unuvar, T; Saglam, H; Bolu, S; Özgen, T; Dogan, D; Çakir, ED; Sen, Y; Andiran, N; Çizmecioglu, F; Evliyaoglu, O; Karagüzel, G; Pirgon, Ö; Çatli, G; Can, HD; Gürbüz, F; Binay, Ç; Bas, VN; Fidanci, K; Gül, D; Polat, A; Acikel, C; Cinaz, P; Darendeliler, FTo evaluate the anthropometric features of girls with Turner syndrome (TS) at birth and presentation and the effect of karyotype on these parameters. Data were collected from 842 patients with TS from 35 different centers, who were followed-up between 1984 and 2014 and whose diagnosis age ranged from birth to 18 years. Of the 842 patients, 122 girls who received growth hormone, estrogen or oxandrolone were excluded, and 720 girls were included in the study. In this cohort, the frequency of small for gestational age (SGA) birth was 33%. The frequency of SGA birth was 4.2% (2/48) in preterm and 36% (174/483) in term neonates (P<0.001). The mean birth length was 1.3cm shorter and mean birth weight was 0.36kg lower than that of the normal population. The mean age at diagnosis was 10.1 +/- 4.4 years. Mean height, weight and body mass index standard deviation scores at presentation were -3.1 +/- 1.7, -1.4 +/- 1.5, and 0.4 +/- 1.7, respectively. Patients with isochromosome Xq were significantly heavier than those with other karyotype groups (P=0.007). Age at presentation was negatively correlated and mid-parental height was positively correlated with height at presentation. Mid-parental height and age at presentation were the only parameters that were associated with height of children with TS. The frequency of SGA birth was found higher in preterm than term neonates but the mechanism could not be clarified. We found no effect of karyotype on height of girls with TS, whereas weight was greater in 46,X,i(Xq) and 45,X/46,X,i(Xq) karyotype groups. (c) 2016 Wiley Periodicals, Inc.Item Growth curves for Turkish Girls with Turner Syndrome: Results of the Turkish Turner Syndrome Study GroupDarendeliler, F; Yesilkaya, E; Bereket, A; Bas, F; Bundak, R; Sari, E; Aydin, BK; Darcan, S; Dündar, B; Büyükinan, M; Kara, C; Mazicioglu, MM; Adal, E; Akinci, A; Atabek, ME; Demirel, F; Çelik, N; Özkan, B; Özhan, B; Orbak, Z; Ersoy, B; Dogan, M; Atas, A; Turan, S; Göksen, D; Tarim, Ö; Yüksel, B; Ercan, O; Hatun, S; Simsek, E; Ökten, A; Abaci, A; Döneray, H; Özbek, MN; Keskin, M; Önal, H; Akyürek, N; Bulan, K; Tepe, D; Emeksiz, HC; Demir, K; Kizilay, D; Topaloglu, AK; Eren, E; Özen, S; Demirbilek, H; Abali, S; Akin, L; Eklioglu, BS; Kaba, S; Anik, A; Bas, S; Ünüvar, T; Saglam, H; Bolu, S; Özgen, T; Dogan, D; Çakir, ED; Sen, Y; Andiran, N; Çizmecioglu, F; Evliyaoglu, O; Karagüzel, G; Pirgon, Ö; Çatli, G; Can, HD; Gürbüz, F; Binay, Ç; Bas, VN; Saglam, C; Gül, D; Polat, A; Açikel, C; Cinaz, PObjective: Children with Turner syndrome (TS) have a specific growth pattern that is quite different from that of healthy children. Many countries have population-specific growth charts for TS. Considering national and ethnic differences, we undertook this multicenter collaborative study to construct growth charts and reference values for height, weight and body mass index (BMI) from 3 years of age to adulthood for spontaneous growth of Turkish girls with TS. Methods: Cross-sectional height and weight data of 842 patients with TS, younger than 18 years of age and before starting any therapy, were evaluated. Results: The data were processed to calculate the 3rd, 10th, 25th, 50th, 75th, 90th and 97th percentile values for defined ages and to construct growth curves for height-for-age, weight-for-age and BMI-for-age of girls with TS. The growth pattern of TS girls in this series resembled the growth pattern of TS girls in other reports, but there were differences in height between our series and the others. Conclusion: This study provides disease-specific growth charts for Turkish girls with TS. These disease-specific national growth charts will serve to improve the evaluation of growth and its management with growth-promoting therapeutic agents in TS patients.Item Turner Syndrome and Associated Problems in Turkish Children: A Multicenter StudyYesilkaya, E; Bereket, A; Darendeliler, F; Bas, F; Poyrazoglu, S; Aydin, BK; Darcan, S; Dündar, B; Büyükinan, M; Kara, C; Sari, E; Adal, E; Akinci, A; Atabek, ME; Demirel, F; Çelik, N; Özkan, B; Özhan, B; Orbak, Z; Ersoy, B; Dogan, M; Atas, A; Turan, S; Göksen, D; Tarim, Ö; Yüksel, B; Ercan, O; Hatun, S; Simsek, E; ÖOkten, A; Abaci, A; Döneray, H; Özbek, MN; Keskin, M; Önal, H; Akyürek, N; Bulan, K; Tepe, D; Emeksiz, HC; Demir, K; Kizilay, D; Topaloglu, AK; Eren, E; Özen, S; Abali, S; Akin, L; Eklioglu, BS; Kaba, S; Anik, A; Bas, S; Ünüvar, T; Saglam, H; Bolu, S; Özgen, T; Dogan, D; Çakir, ED; Sen, Y; Andiran, N; Çizmecioglu, F; Evliyaoglu, O; Karagüzel, G; Pirgon, Ö; Çatli, G; Can, HD; Gürbüz, F; Binay, C; Bas, VN; Fidanci, K; Polat, A; Gül, D; Açikel, C; Demirbilek, H; Cinaz, P; Bondy, CObjective: Turner syndrome (TS) is a chromosomal disorder caused by complete or partial X chromosome monosomy that manifests various clinical features depending on the karyotype and on the genetic background of affected girls. This study aimed to systematically investigate the key clinical features of TS in relationship to karyotype in a large pediatric Turkish patient population. Methods: Our retrospective study included 842 karyotype-proven TS patients aged 0-18 years who were evaluated in 35 different centers in Turkey in the years 2013-2014. Results: The most common karyotype was 45, X (50.7%), followed by 45, X/46, XX (10.8%), 46, X, i(Xq) (10.1%) and 45, X/46, X, i(Xq) (9.5%). Mean age at diagnosis was 10.2 +/- 4.4 years. The most common presenting complaints were short stature and delayed puberty. Among patients diagnosed before age one year, the ratio of karyotype 45, X was significantly higher than that of other karyotype groups. Cardiac defects (bicuspid aortic valve, coarctation of the aorta and aortic stenosis) were the most common congenital anomalies, occurring in 25% of the TS cases. This was followed by urinary system anomalies (horseshoe kidney, double collector duct system and renal rotation) detected in 16.3%. Hashimoto's thyroiditis was found in 11.1% of patients, gastrointestinal abnormalities in 8.9%, ear nose and throat problems in 22.6%, dermatologic problems in 21.8% and osteoporosis in 15.3%. Learning difficulties and/or psychosocial problems were encountered in 39.1%. Insulin resistance and impaired fasting glucose were detected in 3.4% and 2.2%, respectively. Dyslipidemia prevalence was 11.4%. Conclusion: This comprehensive study systematically evaluated the largest group of karyotype-proven TS girls to date. The karyotype distribution, congenital anomaly and comorbidity profile closely parallel that from other countries and support the need for close medical surveillance of these complex patients throughout their lifespan.