Browsing by Author "Bolu, Semih"
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Item Adıyaman ilindeki diyabetik çocukların epidemiyolojik özellikleri(Uludağ Üniversitesi, 2019) İşleyen, Fatih; Bolu, SemihGİRİŞ ve AMAÇ: Retrospektif olarak planlanan çalışma ile diyabetes mellitus (DM) tanısı alan 0-18 yaş arası hastaların klinik ve laboratuvar bulguları ile epidemiyolojik özelliklerinin değerlendirilmesi amaçlanmıştır. YÖNTEM ve GEREÇLER: Çalışmaya Ekim 2016 ile Ağustos 2018 tarihleri arasında Adıyaman Eğitim ve Araştırma Hastanesi Çocuk Endokrinolojisi Kliniği’nde yeni DM tanısı konulan 78 olgu alındı. Hastalar, tanı yaşına ve diyabet türüne [Neonatal DM, Tip 1 DM, Tip 2 DM, Gençlikte Ortaya Çıkan Erişkin Tip Diyabet (MODY)] göre dört gruba ayrıldı. BULGULAR: Diyabet tipleri açısından hastalar incelendiğinde 45 hastada Tip 1DM (%57,7), 13 hastada Tip 2DM (%16,7), 15 hastada MODY tip 2 (%19,2), üç hastada MODY tip 3 (%3,9) ve 2 hastada neonatal DM (%2,5) tespit edildi. Tip 1 DM’nin görülme yaşının sırasıyla 10-14 yaş (%35,6) ve 5-9 yaş (%31,1) grubunda zirve yaptığı görüldü. Cinsiyet açısından gruplar karşılaştırıldığında 0-4 yaş ile 5-9 yaş grubunda kız cinsiyet, 10-14 yaş ile 15-17 yaş grubunda erkek cinsiyet üstünlüğü mevcuttu. Tip 2DM’li hastaların 9’u (%69,2) kız, 4’ü (%30,8) erkek ve tanı anındaki yaş ortalaması 13,2±2,4 yıl idi. MODY olgularının 15’ini (%83,3) GCK-MODY ve 3’ünü (%16,7) HNF1A-MODY olgularının oluşturduğu görüldü. TARTIŞMA ve SONUÇ: Çalışmamızda Adıyaman ilindeki T1DM’li çocukların en sık 10-14 yaş arasında tanı aldığını ve hastalığın 10 yaş altında kızlarda, 10 yaş üzerinde ise erkeklerde daha sık ortaya çıktığını saptadık. T2DM’li çocukların ise ortalama 13,2 yaşında tanı aldığını ve bu hastalarda kız cinsiyet üstünlüğü olduğunu belirledik. Bölgemizde tüm diyabet nedenleri içinde monogenik diyabetin, özellikle de GCK-MODY’nin önemli bir yer işgal ettiğini gösterdik.Publication Growth curves for Turkish girls with Turner syndrome: Results of the Turkish Turner syndrome study group(Galenos Yayıncılık, 2015-04-21) Darendeliler, Feyza; Yeşilkaya, Ediz; Bereket, Abdullah; Baş, Firdevs; Bundak, Rüveyde; Sarı, Erkan; Aydın, Banu Küçükemre; Darcan, Şükran; Dündar, Bumin; Büyükinan, Muammer; Kara, Cengiz; Mazicioğlu, Mümtaz M.; Adal, Erdal; Akıncı, Ayşehan; Atabek, Mehmet Emre; Demirel, Fatma; Çelik, Nurullah; Özkan, Behzat; Özhan, Bayram; Orbak, Zerrin; Ersoy, Betül; Doğan, Murat; Ataş, Ali; Turan, Serap; Göksen, Damla; Tarım, Ömer; Yüksel, Bilgin; Ercan, Oya; Hatun, Sükrü; Şimşek, Enver; Ökten, Ayşenur; Abacı, Ayhan; Döneray, Hakan; Özbek, Mehmet Nuri; Keskin, Mehmet; Önal, Hasan; Akyürek, Nesibe; Bulan, Kezban; Tepe, Derya; Emeksiz, Hamdi Cihan; Demir, Korcan; Kızılay, Deniz; Topaloğlu, Ali Kemal; Eren, Erdal; Özen, Samim; Demirbilek, Hüseyin; Abalı, Saygın; Akın, Leyla; Eklioğlu, Beray Selver; Kaba, Sultan; Anık, Ahmet; Baş, Serpil; Ünüvar, Tolga; Sağlam, Halil; Bolu, Semih; Özgen, Tolga; Doğan, Durmuş; Çakır, Esra Deniz; Şen, Yaşar; Andiran, Nesibe; Çizmecioğlu, Filiz; Evliyaoğlu, Olcay; Karagüzel, Gülay; Pirgon, Özgür; Çatlı, Gönül; Can, Hatice Dilek; Gürbüz, Fatih; Binay, Çiğdem; Baş, Veysel Nijat; Sağlam, Celal; Gül, Davut; Polat, Adem; Açıkel, Cengizhan; Çınaz, Peyami; Can, Hatice Dilek; Doğan, Durmuş; Çakır, Esra Deniz; SAĞLAM, HALİL; EREN, ERDAL; TARIM, ÖMER FARUK; Uludağ Üniversitesi/Tıp Fakültesi/Çocuk Endokrinolojisi Anabilim Dalı.; 0000-0002-1684-1053; 0000-0003-0710-5422; 0000-0003-4664-7435; JHM-8761-2023; JPK-3909-2023; C-7392-2019; AID-3610-2022; GQO-9634-2022; IRJ-2200-2023Objective: 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 Rare causes of primary adrenal insufficiency: Genetic and clinical characterization of a large nationwide cohort(Endocrine Soc, 2016-01) Güran, Tülay; Buonocore, Federica; Saka, Nurçin; Özbek, Mehmet Nuri; Aycan, Zehra; Bereket, Abdullah; Baş, Firdevs; Darcan, Sükran; Bideci, Aysun; Güven, Ayla; Demir, Korcan; Akıncı, Ayşehan; Büyükinan, Muammer; Aydın, Banu Küçükemre; Turan, Serap; Ağladıoğlu, Sebahat Yılmaz; Atay, Zeynep; Abalı, Zehra Yavaş; Çatlı, Gönül; Yüksel, Bilgin; Akçay, Teoman; Yıldız, Metin; Özen, Samim; Doger, Esra; Demirbilek, Hüseyin; Uçar, Ahmet; Işık, Emregül; Özhan, Bayaram; Bolu, Semih; Özgen, İlker Tolga; Suntharalingham, Jenifer P.; Achermann, John C.; Tarım, Ömer; Uludağ Üniversitesi/Tıp Fakültesi/Pediatrik Endokrinoloji ve Diyabet Anabilim Dalı.; 6701427186Context: Primary adrenal insufficiency (PAI) is a life-threatening condition that is often due to monogenic causes in children. Although congenital adrenal hyperplasia occurs commonly, several other important molecular causes have been reported, often with overlapping clinical and biochemical features. The relative prevalence of these conditions is not known, but making a specific diagnosis can have important implications for management. Objective: The objective of the study was to investigate the clinical and molecular genetic characteristics of a nationwide cohort of children with PAI of unknown etiology. Design: A structured questionnaire was used to evaluate clinical, biochemical, and imaging data. Genetic analysis was performed using Haloplex capture and next-generation sequencing. Patients with congenital adrenal hyperplasia, adrenoleukodystrophy, autoimmune adrenal insufficiency, or obvious syndromic PAI were excluded. Setting: The study was conducted in 19 tertiary pediatric endocrinology clinics. Patients: Ninety-five children (48 females, aged 0-18 y, eight familial) with PAI of unknown etiology participated in the study. Results: A genetic diagnosis was obtained in 77 patients (81%). The range of etiologies was as follows: MC2R (n = 25), NR0B1 (n = 12), STAR (n = 11), CYP11A1 (n = 9), MRAP (n = 9), NNT (n = 7), ABCD1 (n = 2), NR5A1 (n = 1), and AAAS (n = 1). Recurrent mutations occurred in several genes, such as c.560delT in MC2R, p.R451W in CYP11A1, and c. IVS3ds + 1delG in MRAP. Several important clinical and molecular insights emerged. Conclusion: This is the largest nationwide study of the molecular genetics of childhood PAI undertaken. Achieving a molecular diagnosis in more than 80% of children has important translational impact for counseling families, presymptomatic diagnosis, personalized treatment (eg, mineralocorticoid replacement), predicting comorbidities (eg, neurological, puberty/fertility), and targeting clinical genetic testing in the future.Publication Statistical shape analysis of hand and wrist in paediatric population on radiographs(TÜBİTAK, 2020-05-19) Koç, Üral; Ercan, İlker; Özdemir, Senem; Bolu, Semih; Yabacı, Ayşegül; Taydaş, Onur; ÖZDEMİR, SENEM; ERCAN, İLKER; Bursa Uludağ Üniversitesi/Tıp Fakültesi/Biyoistatistik Anabilim Dalı.; Bursa Uludağ Üniversitesi/Tıp Fakültesi/Anatomi Anabilim Dalı.; 0000-0002-2382-290X; 0000-0002-0407-3608; ABF-2367-2020; IEX-0757-2023Background/aim: The goal of this study was to compare differences in hand and wrist shapes and to evaluate these according to growth and allometry in children on radiographs related to bone age.Materials and methods: The study included 263 males and 189 females. A total of 452 left hand and wrist radiographs were retrospectively collected. Standard anatomical landmarks marked on radiographs.Results: There were seen to be significant differences in comparisons of hand and wrist shapes according to sex (P = 0.009). The most suitable model in the growth models was seen as the Gompertz growth model for both females and males (model P < 0.001). For the relationship between shape and size to evaluate allometry, significant models were obtained in females (model P = 0.017, MSE = 0.0002) and in males (model P < 0.001, MSE = 0.0002). In our study, the difference between the sexes was found mostly in the radiocarpal region. It was observed that the deformation of the carpal bones started in the distal row carpal bones.Conclusion: Significant differences were found in hand and wrist shapes according to sex. Models for growth and allometry of hand and wrist shapes were found to be significant in children.Publication Turner syndrome and associated problems in Turkish children: A multicenter study(Galenos Yayıncılık, 2015-03-01) Yeşilkaya, Ediz; Bereket, Abdullah; Darendeliler, Feyza; Bas, Firdevs; Poyrazoğlu, Şükran; Aydın, Banu Kuçükkemre; Darcan, Sukran; Dündar, Bumin; Büyükınan, Muammer; Kara, Cengiz; Sarı, Erkan; Adal, Erdal; Akınciı Ayşehan; Atabek, Mehmet Emre; Demirel, Fatma; Celik, Nurullah; Ozkan, Behzat; Ozhan, Bayram; Orbak, Zerrin; Ersoy, Betul; Dogan, Murat; Atas, Ali; Turan, Serap; Goksen, Damla; Tarim, Omer; Yuksel, Bilgin; Ercan, Oya; Hatun, Sukru; Simsek, Enver; Okten, Aysenur; Abaci, Ayhan; Doneray, Hakan; Ozbek, Mehmet Nuri; Keskin, Mehmet; Onal, Hasan; Akyurek, Nesibe; Bulan, Kezban; Tepe, Derya; Emeksiz, Hamdi Cihan; Demir, Korcan; Kizilay, Deniz; Topaloglu, Ali Kemal; Eren, Erdal; Ozen, Samim; Abali, Saygin; Akin, Leyla; Eklioglu, Beray Selver; Kaba, Sultan; Anik, Ahmet; Bas, Serpil; Unuvar, Tolga; Saglam, Halil; Bolu, Semih; Ozgen, Tolga; Dogan, Durmus; Cakir, Esra Deniz; Sen, Yasar; Andiran, Nesibe; Cizmecioglu, Filiz; Evliyaoglu, Olcay; Karaguzel, Gulay; Pirgon, Ozgur; Catli, Gonul; Can, Hatice Dilek; Gurbuz, Fatih; Binay, Cigdem; Bas, Veysel Nijat; Fidanci, Kursat; Polat, Adem; Gul, Davut; Acikel, Cengizhan; Demirbilek, Huseyin; Cinaz, Peyami; Bondy, Carolyn; TARIM, ÖMER FARUK; EREN, ERDAL; SAĞLAM, HALİL; Doğan, Durmuş; Çakır, Esra Deniz; Uludağ Üniversitesi/Tıp Fakültesi/Pediatri Endocrinoloji Bölümü; 0000-0002-1684-1053; 0000-0003-0710-5422; JHM-8761-2023; JPK-3909-2023; C-7392-2019; AID-3610-2022; GQO-9634-2022Objective: 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.