Yazar "Durmaz, Mehmet Burak" seçeneğine göre listele

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  • Küçük Resim Yok
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    A case of acute lymphoblastic leukemia with additional chromosomes X and 5 associated with a Philadelphia chromosome in the bone marrow
    (2010) Durmaz, Mehmet Burak; Durmaz, Asude Alpman; Karaca, Emin; Saydam, Güray; Çoğulu, Muhsin Özgür; Özkınay, Ferda
    Bu makalede, kemik iliğinde çok nadir bir kromozom yapısı olan 48,XY,+X,+5,t(9;22)(q34;q11)’e sahip bir olgu sunulmaktadır. Ekstra kromozom 5 ve X’e ilave olarak Philadelphia kromozomunu taşıyan bir olguya literatürde rastlanmamıştır. Hastamızın lenfositlerden elde edilen karyotipi normal olarak değerlendirilmiş olup, Klinefelter Sendromu kliniği bulunmamaktaydı. IDA-FLAG tedavisi sonucunda tam remisyon sağlandı. Trizomi 5 veya diğer kromozomal anöploidilerin lökomogenez üzerindeki rolü net değildir. Karyotipte saptanmış olan bölgelerdeki genler ve ürünlerinin yapılacak çalışmalarla incelenmesi, ilaca dirençli akut lenfoblastik lösemiyi anlamamızda ve bu hastaların hedefe özgün tedavi seçeneklerinde yardımcı olabilecektir.
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    Öğe
    Investigation of genotype-phenotype correlation in patients with AZF microdeletion in a single-reference centre
    (Wiley, 2021) Uzay, Elif; Kizilay, Fuat; Altay, Baris; Akin, Haluk; Durmaz, Mehmet Burak
    In this study, we aimed to elucidate the relationship between AZF deletion type and clinical information of azoospermic patients with AZF microdeletion in the Turkish population. Azoospermic patients with normal karyotype and AZF microdeletion were analysed retrospectively by collecting clinical data including hormone profile, demographic characteristics and micro-TESE results. As a result of the AZF microdeletion tests of 42 cases with 46 XY karyotype, AZFa deletion was detected in 3 cases, AZFb deletion in 2 cases, AZFc deletion in 31 cases, AZFb + AZFc deletion in 4 cases and AZFa + AZFb + AZFc deletion in 2 cases respectively. Spermatozoon was obtained in 16 cases with AZFc microdeletion with micro-TESE. Pregnancy was achieved in 2 cases. There was no statistically significant difference between the type of deletion and age, height, weight, body mass index, hormone profile and testicular volume. When AZF is evaluated according to the type of microdeletion, it will be appropriate to plan the medical and surgical options more carefully in a multidisciplinary manner in cases with deletions including AZFa, AZFb or their combinations. Also, genotype-phenotype correlation was found to be consistent with the literature; particularly patients having AZFc deletions were found to have a chance for pregnancy.