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  • Küçük Resim
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    Neonatal Screening for Congenital Adrenal Hyperplasia in Turkey: Outcomes of Extended Pilot Study in 241,083 Infants
    (2020) Güran, Tülay; Tezel, Başak; Çakır, Meltem; Akıncı, Ayşehan; Orbak, Zerrin; Keskin, Mehmet; Eklioğlu, Beray; Ozon, Alev; Özbek, Mehmet Nuri; Karagüzel, Gülay; Hatipoğlu, Nihal; Gürbüz, Fatih; Çizmecioğlu, Filiz; Kara, Cengiz; Şimşek, Enver; Baş, Firdevs; Aydın, Murat; Darendeliler, Feyza
    Abstract: Objective: Turkish Directorate of Public Health introduced the first pilot screening program for congenital adrenal hyperplasia (CAH) in four Turkish cities in 2017, and in 2018 extended the program, with a slight change in screening strategy, to fourteen cities. To evaluate the performance of the extended study and update previously reported outcomes. Methods: Retrospective, descriptive study. Neonates of ?32 gestational weeks and ?1500 gr birth weight from fourteen cities, born between May-December 2018, were included. Screening protocol included one sample, two-tier testing as applied in the previous pilot study. In the first step, 17?-hydroxyprogesterone (17-OHP) was measured by fluoroimmunoassay in dried blood spots (DBS) obtained at 3-5 days of life. Cases with positive initial screening underwent second tier testing by steroid profiling in DBS using liquid chromatographytandem mass spectrometry to measure 17-OHP, 21-deoxycortisol (21-S), cortisol (F), 11-deoxycortisol and androstenedione. The babies with a steroid ratio (21-S+17-OHP)/F of ?0.7 (increased from ?0.5 in the earlier pilot study) were referred to pediatric endocrinology clinics for diagnostic assessment. Results: In the evaluated period, 241,083 newborns were screened. 12,321 (5.11%) required second-tier testing and 880 (0.36%) were referred for clinical assessment, twenty of whom were diagnosed with CAH (10 females, 10 males). Sixteen were diagnosed as classical 21-hydroxylase deficiency (21-OHD) CAH (12 with salt-wasting and four with simple virilising CAH), and four cases were identified with 11?-OHD CAH. No case of salt-wasting CAH was missed by neonatal screening (sensitivity was 100%). The incidence of classical 21-OHD and 11?-OHD in the screened population was 1: 15,067 and 1: 60,270, respectively. Conclusion: Turkish neonatal CAH screening effectively led to earlier diagnosis of 21-OHD and 11?-OHD, using steroid profiling as a second-tier test. This will result in improved care of these patients in the future.
  • Küçük Resim
    Öğe
    Safra kesesi ürerinde ektopik karaciğer dokusu: İki olgu sunumu
    (İnönü Üniversitesi Tıp Fakültesi Dergisi, 2010) Ateş, Mustafa; Dirican, Abuzer; Kara, Cengiz; Yılmaz, Sezai
    Öz: Ektopik karaciğer genellikle üst abdomende ve daha sık safra kesesinde görülür. Altmışbir yaşında bayan ve 47 yaşında erkek hastada laparoskopik kolesistektomi esnasında safra kesesinde ektopik karaciğer dokusu tespit edildi ve kolesistektomi ile beraber çıkarıldı. Histopatolojik inceleme normal karaciğer histopatolojisi olarak rapor edildi. Safra kesesinde ektopik karaciğer dokusu genelde laparotomi esnasında incidental olarak bulunur. Eğer safra kesesinde patoloji varsa kese ile beraber çıkarılması önerilmektedir.