Browsing by Author "Saglam, Halil"

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    Efficacy of biphosphonates in patients with osteogenesis imperfecta
    (Galenos Yayincilik, 2011-12-01) Eren, Erdal; EREN, ERDAL; Sincar, Sahin; Çakır, Esra Deniz Papatya; Saglam, Halil; SAĞLAM, HALİL; Tarım, Ömer; Bursa Uludağ Üniversitesi/Tıp Fakültesi/Çocuk Sağlığı ve Hastalıkları Anabilim Dalı.; 0000-0002-1684-1053; 0000-0003-4664-7435; 0000-0002-6598-8262; 0000-0002-5322-5508; GQO-9634-2022; C-7392-2019; JPK-3909-2023; GLN-8241-2022
    Introduction: Osteogenesis imperfecta (OI) is a genetic disorder resulting in increased bone fragility due to defective collagen synthesis. Biphosfonates have been used in children with OI. Herein, we aimed to present clinical and laboratory features of the patients with OI and to evaluate response to biphosphonate therapy.Materials and Methods: The data of 21 patients with OI were evaluated retrospectively and clinical classification was made. Age, gender, auxological data, bone mineral density (BMD), and bone fragility before and after therapy were evaluated. Efficacy of alendronate and pamidronate on the bone density were compared.Results: Of the 21 patients, 12 were male (57.1%), 9 were female (42.9%) and median age was 5.64 years. According the Sillence classification, 10 patients were classified as type I, 9 cases as type III, and 2 cases as type IV. Diagnoses were made by multiple fractures (10 cases), pathological sole fracture (5 cases), blue sclera with history of fracture (2 cases), maternal OI, blue sclera, and decreased BMD (1 case), bone deformity, family history, and blue sclera (1 case). Pamidronate (13 cases) and alendronate (8 cases) were given as medical therapy. Basal DEXA z-score increased from -4.00 at baseline to -2.80 after 12 months of therapy (p< 0.001). When the two therapy models were compared, there was no statistical difference. After one year of therapy, height SDS increased from -2.55 to -1.74 (p= 0.433), and weight SDS increased from -1.79 to -0.51 (p= 0.042). Annual fracture frequency decreased significantly from 2.14 to 0.62 per year (p< 0.001).Conclusions: Three monthly pamidronate or daily alendronate therapy is effective to reduce clinical symptoms and annual fracture rate. Both biphosphonates enhance BMD safely without remarkable side effects. However, duration of therapy and possible side effects in the long run are still unclear and further research in larger groups is necessary.
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    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-9634-2022
    Objective: 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.