Browsing by Author "Okur, Hamza"

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    Assessment of clinical and laboratory presentations of familial hemophagocytic lymphohistiocytosis patients with homozygous W374X mutation
    (Pergamon-Elsevier, 2010-08) Balta, Günay; Okur, Hamza; Ünal, Şule; Yaralı, Neşe; Ünal, Selma; Türker, Meral; Güler, Elif; Ertem, Mehmet; Albayrak, Meryem; Patıroğlu, Türkan; Gürgey, Aytemiz; Güneş, Adalet Meral; Uludağ Üniversitesi/Tıp Fakültesi/Çocuk Sağlığı ve Hastalıkları Anabilim Dalı.; 24072843300
    Homozygous W374X mutation was identified in unrelated 13 patients (6M/7F) from consanguineous families, 62% of which had history of deceased sibling. Haplotype analysis provided evidence for the probable existence of a founder effect. Age at disease onset ranged from 1 day to 5.5 months (median 2 months). Hepatic dysfunction was observed in 69%, ascite 62%, hypertriglyceridemia 77%, each hyperferritinemia and hypofibrinogenemia 85%, CNS involvement 46% of patients while birth weights were in normal range. Those with very high ferritin (>20,000 ng/ml) had extremely low fibrinogen levels. Two-thirds of patients receiving HLH protocol died within 20 days of therapy.
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    The association of BDNF gene val66met polymorphism with the serum BDNF levels in drug-free depressed patients
    (Elsevier, 2008-08) Ozan, Erol; Gönül, Ali Saffet; Okur, Hamza; Akarsu, Nurten A; Eker, Mehmet Çağtaş; Eker, Özlem Donat; Aydın, Nazan; Kırpınar, İsmet; Yulug, Burak; Uludağ Üniversitesi/Tıp Fakültesi/Nöroloji Anabilim Dalı.; 0000-0002-9704-6173; O-8322-2016