Browsing by Author "Bundak, Rüveyde"

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    Evaluation of patients with Graves' disease
    (Karger, 2006) Poyrazoğlu, Şükran; Saka, Nurcin; Baş, Firdevs; İşgüven, Pınar; Doğu, Ayşegül; Turan, Serap; Bereket, Abdullah; Sarıkaya, Sevil; Adal, Erdal; Çizmeci, Filiz; Ercan, Oya; Memioğlu, Nihal; Günöz, Hülya; Bundak, Rüveyde; Darendeliler, Feyza; Yıldız, Metin; Güran, Tülay; Akçay, Teoman; Akın, Leyla; Hatun, Şükrü; Onal, Hasan; Sağlam, Halil; Tarım, Ömer; Uludağ Üniversitesi/Tıp Fakültesi.; 0000-0003-0710-5422; C-7392-2019; CCU-8073-2022
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    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-2200-2023
    Objective: 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.
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    A novel TBX19 gene mutation in a case of congenital isolated adrenocorticotropic hormone deficiency presenting with recurrent respiratory tract infections
    (Frontiers Media, 2017-03-23) Akcan, Neşe; Serakinci, Nedime; Türkgenç, Burcu; Bundak, Rüveyde; Bahçeciler, Nerin; Temel, Şehime Gülsün; Uludağ Üniversitesi/Tıp Fakültesi/Histoloji ve Embriyoloji Anabilim Dalı.; 0000-0002-9802-0880; AAG-8385-2021; 6507885442
    Introduction: Congenital isolated adrenocorticotropic hormone deficiency (CIAD) is a rare disease characterized by low adrenocorticotropic hormone (ACTH) and cortisol levels. To date, recurrent pulmonary infections in infancy have not been reported as an accompanying symptom of CIAD. Case presentation: A 7-year-old boy was hospitalized nine times for recurrent lower respiratory tract infections. The results of all tests for the possible causes of wheezing were within the normal limits. His ACTH and cortisol levels were persistently low. All other pituitary hormone levels, and adrenal ultrasound and pituitary magnetic resonance imaging results, were normal. Molecular analyses confirmed the diagnosis of CIAD by identifying compound heterozygosity for two mutations in the TBX19 gene. The first was a novel frameshift c. 665delG variant in exon 4 of the TBX19 gene, leading to premature termination that was predicted to result in a non-functional truncated protein. The second was a nonsense C-to-T transition in exon 6 of the TBX19 gene, resulting in an arg286-to-ter mutation (dbSNP: rs74315376). Both parents were heterozygous for one of the mutations. Conclusion: Here, we presented a new mutation in the TBX19 gene in a patient with CIAD who presented with recurrent respiratory tract infections. This expands the mutation spectrum in this disorder. To conclude, adrenal insufficiency should be considered in patients with unexplained recurrent infections to prevent a delay in diagnosis.