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Öğe The known genetic defects in common variable immunodeficiency(Bilimsel Tip Yayinevi, 2014) Kara, Reyhan; Gokturk, Bahar; Acar, AynurCommon variable immunodeficiency (CVID) is a relatively common form of immunodeficiency disorders which constitutes a mixed group of heterogeneous conditions linked by lack of immune globulin production and primary antibody failure. Recently, it is understood that various monogenic defects determine the variability in phenotype and have roles in the immunopathogenesis of CVID. In this review, the molecular defects related to CVID which are ICOS (inducible co-stimulator), TACI (transmembrane activator and calcium-modulator and cyclophilin ligand interactor), CD19, MSH5 (MutS Homologue 5 Mutations), BAFF-R (B cell activating factor receptor), CD20, CD81, CD21, LRBA (lipopolysaccharide-responsive beige-like anchor), and their genetic basis were aimed to be reviewed.Öğe Reduced CD19 expression and decreased memory B cell numbers in transient hypogammaglobulinemia of infancy(Springer-Verlag Italia Srl, 2013) Artac, Hasibe; Kara, Reyhan; Gokturk, Bahar; Reisli, IsmailWe aimed to evaluate the role of the CD19 complex in the pathogenesis of transient hypogammaglobulinemia of infancy (THI) and to better characterize the subsets of memory B cells. The study population consisted of 22 male and 14 female patients with a mean age at presentation of 20 +/- A 9.9 months. The CD19 complex and B cell subsets were evaluated by flow cytometry. While the CD19 median fluorescence index (MFI) in patients with THI was significantly lower than controls (122.9 +/- A 66.7 in patients; 184.2 +/- A 39 in controls, p < 0.01), expression of CD21 and CD81 was increased (94.4 +/- A 3, 96.8 +/- A 2.5 % in patients; 91 +/- A 3.9; 94.7 +/- A 3.5 % in controls, p < 0.01 vs. p < 0.05, respectively). The expressions of switched memory B cells and IgM memory B cells were found to be reduced in THI. Considering that the CD19 complex regulates the events following antigen stimulation, the change in CD19 complex detected in THI may be related to insufficiency of antibody production.Öğe Sperm hareketliliği düşük olan erkeklerin spermatozoalarında NRF2 mRNA ekspresyon düzeyinin incelenmesi(Necmettin Erbakan Üniversitesi Sağlık Bilimleri Enstitüsü, 2015) Kara, Reyhan; Taşdemir, PelinErkek faktörü, infertilite için önemli bir etiyolojik sebep olarak karşımıza çıkmaktadır. Erkek infertilitesi için bilinen sebeplerin dışında son dönemde ilgi çeken bir yenisi eklenmiştir; oksidatif stres. Vücuttaki antioksidanlar ve reaktif oksijen türleri (ROT) arasındaki dengesizlik sonucu ortaya çıkan oksidatif stres, spermlere zarar vermekte ve infertiliteye sebep olabilmektedir. Oksidatif strese karşı önemli hücresel savunma mekanizmalarından biri transkripsiyon faktörü nükleer faktör eritroid 2 (NF-E2) ilişkili faktör 2 (NRF2)'dir. NRF2, ROT'a karşı koruma için önemli olan antioksidan enzimleri kodlayan genlerin bazal ve indüklenebilir transkripsiyonunu düzenlemektedir. Antioksidan enzimler insan spermatogenezisinde önemli rol oynamaktadır. İnsan seminal plazma ve spermatozoada bulunan süperoksit dismutaz (SOD) önemli antioksidan enzimlerden biridir. Çalışmamıza 41 asthenozoospermik ve oligoasthenozoospermik olgudan oluşan çalışma grubu ile 48 sağlıklı bireyden oluşan normozoospermik kontrol gurubu dahil edildi. Bu çalışmada asthenozoospermi ve oligoasthenozoospermi olgularında, spermatogenez için önemli olduğu bilinen NRF2 antioksidan genin mRNA ekspresyon düzeyinin ve erkek üreme sisteminde önemli bir antioksidan enzim olan seminal plazma SOD aktivitesinin sperm fonksiyonları ile olan ilişkisinin araştırılması amaçlandı. Olguların spermatozoalarında NRF2 antioksidan genin mRNA ekspresyon düzeyi için kantitatif real-time ters transkriptaz polimeraz zincir reaksiyonu ve seminal plazma SOD aktivitesi için ise kolorimetrik yöntem kullanıldı. Araştırmamız sonucunda, çalışma grubunun NRF2 antioksidan genin mRNA ekspresyon düzeyi kontrol grubu ile istatistiksel olarak karşılaştırıldığında anlamlı bir fark saptanmadı (P=0.633). Ayrıca NRF2 mRNA ekspresyon düzeyinin spesifik sperm fonksiyon parametreleri (P>0.05) ve seminal plazma SOD aktivitesi ile aralarında bir ilişki olmadığı belirlendi (P=0.533). Çalışma grubunun seminal plazma SOD aktivitesi kontrol grubu ile kıyaslandığında anlamlı bir fark saptanmadığını gözlemledik (P=0.502). Seminal plazma SOD aktivitesinin spesifik sperm fonksiyon parametreleri ile de aralarında bir ilişki olmadığı (P>0.05) saptandı. Bu nedenle, verilerimiz NRF2 mRNA ekspresyonunun ve seminal plazma SOD aktivitesinin düşük sperm hareketliliği olan erkeklerde anlamlı bir fark göstermediğini ve spesifik sperm fonksiyon parametreleri ile ilişkili olmadığını göstermektedir. Bu veriler, insan spermatogenezisinde önemli rol oynadığı düşünülen NRF2 geninin erkek infertilitesi ile ilişkili ROT'un tahmin edilmesinde ve ayrıca SOD aktivitesinin sperm fertilizasyon potansiyelini belirlemede yeterli bir belirteç olarak kullanılmasının uygun olmadığını düşündürdü. Ancak, çalışmamızda çalışma ve kontrol grubu sınırlı sayıda ele alındı. Daha geniş bir populasyonda daha fazla araştırma yapılmasının uygun olacağı düşünüldü.Öğe THE VALUE OF MEAN PLATELET VOLUME/PLATELET COUNT RATIO TO PREDICT 22q11.2 DELETION SYNDROME(Springer/Plenum Publishers, 2014) Gokturk, Bahar; Guner, Sukru Nail; Kara, Reyhan; Kirac, Mine; Keles, Sevgi; Artac, Hasibe; Reisli, Ismail[Abstract Not Availabe]Öğe Would mean platelet volume/platelet count ratio be used as a novel formula to predict 22q11.2 deletion syndrome?(Allergy Immunol Soc Thailand, 2016) Gokturk, Bahar; Guner, Sukru Nail; Kara, Reyhan; Kirac, Mine; Keles, Sevgi; Artac, Hasibe; Zamani, Ayse GulBackground: The diagnosis of 22q11.2 deletion syndrome depends on a time-consuming and expensive method, fluorescence in situ hybridisation (FISH). Objectives: We aimed to determine new parameters which can aid for in the diagnosis of 22q11.2 deletion syndrome. Methods: Twenty two patients with 22q11.2 or 10p13 deletion were evaluated retrospectively. Results: Facial-dysmorphism and mental-motor retardation were detected in 100% of patients. Mean platelet (PLT) counts were lower (224,980 versus 354,000, p = 0.001), mean PLT volume (MPV) (9.95 versus 7.07, p = 0.002), and MPV/PLTx10(5) ratios (5.36 versus 2.08, p < 0.001) were higher in patients with 22q11.2 deletion compared with the control group. Area under the receiver-operator characteristic (ROC) curve was 0.864, sensitivity was 84.6%, specificity was 90.9%, positive predictive value (PPV) was 91.7%, and negative predictive value (NPV) was 83.3% when MPV was 8.6. Area under ROC curve was 0.864, sensitivity was 76.9%, specificity was 90.1%, PPV was 90.1%, and NPV was 76.3% when PLT was 265,500. Area under ROC curve was 0.906, sensitivity was 84.6%, specificity was 100%, PPV was 100%, and NPV was 84.6% when MPV/PLTx10(5) was 3.3. Expression of PLT surface markers which were not in the GPIb-V-IX receptor complex (CD61, CD41a) increased as the surface area increased, but markers which were in a complex (CD42a, CD42b) did not change. Conclusions: High MPV/PLT value can be a good predictor for the diagnosis of 22q11.2 deletion syndrome. We suggest that in patients with facial dysmorphism and retardation in neurodevelopmental milestones and if MPV >= 8.6fl, MPV/PLTx10(5) ratio >= 3.3 and PLT count <= 265,500/mm(3), the patients should be tested by FISH analysis to confirm the 22q11.2 deletion. If there are no macrothrombocytes, the 10p13 deletion should be tested in suspected cases.Öğe Would mean platelet volume/platelet count ratio be used as a novel formula to predict 22q11.2 deletion syndrome?(Allergy Immunol Soc Thailand, 2016) Gokturk, Bahar; Guner, Sukru Nail; Kara, Reyhan; Kirac, Mine; Keles, Sevgi; Artac, Hasibe; Zamani, Ayse GulBackground: The diagnosis of 22q11.2 deletion syndrome depends on a time-consuming and expensive method, fluorescence in situ hybridisation (FISH). Objectives: We aimed to determine new parameters which can aid for in the diagnosis of 22q11.2 deletion syndrome. Methods: Twenty two patients with 22q11.2 or 10p13 deletion were evaluated retrospectively. Results: Facial-dysmorphism and mental-motor retardation were detected in 100% of patients. Mean platelet (PLT) counts were lower (224,980 versus 354,000, p = 0.001), mean PLT volume (MPV) (9.95 versus 7.07, p = 0.002), and MPV/PLTx10(5) ratios (5.36 versus 2.08, p < 0.001) were higher in patients with 22q11.2 deletion compared with the control group. Area under the receiver-operator characteristic (ROC) curve was 0.864, sensitivity was 84.6%, specificity was 90.9%, positive predictive value (PPV) was 91.7%, and negative predictive value (NPV) was 83.3% when MPV was 8.6. Area under ROC curve was 0.864, sensitivity was 76.9%, specificity was 90.1%, PPV was 90.1%, and NPV was 76.3% when PLT was 265,500. Area under ROC curve was 0.906, sensitivity was 84.6%, specificity was 100%, PPV was 100%, and NPV was 84.6% when MPV/PLTx10(5) was 3.3. Expression of PLT surface markers which were not in the GPIb-V-IX receptor complex (CD61, CD41a) increased as the surface area increased, but markers which were in a complex (CD42a, CD42b) did not change. Conclusions: High MPV/PLT value can be a good predictor for the diagnosis of 22q11.2 deletion syndrome. We suggest that in patients with facial dysmorphism and retardation in neurodevelopmental milestones and if MPV >= 8.6fl, MPV/PLTx10(5) ratio >= 3.3 and PLT count <= 265,500/mm(3), the patients should be tested by FISH analysis to confirm the 22q11.2 deletion. If there are no macrothrombocytes, the 10p13 deletion should be tested in suspected cases.Öğe Yaygın değişken immünyetmezliklerde bilinen genetik defektler(2014) Kara, Reyhan; Göktürk, Bahar; Acar, AynurYaygın değişken immünyetmezlik (YDİY), immünyetmezlik hastalıklarının nispeten sık görülen bir şekli olup, immünglobulin üretiminde eksiklik ve primer antikor yetmezliği ile giden heterojen bir hastalık grubudur. Son yıllarda, tanımlanan çeşitli monogenik defektlerin YDİY'in klinik ve laboratuvar bulgularındaki değişkenliği belirlediği ve immünopatogenezinde rol oynadığı anlaşılmıştır. Bu derlemede, YDİY ile ilişkili olan ICOS (inducible co-stimulator), TACI (transmembrane activator and calcium-modulator and cyclophilin ligand interactor), CD19, MSH5 (MutS Homologue 5 Mutations), BAFF-R (B cell activating factor receptor), CD20, CD81, CD21, LRBA (lipopolysaccharide-responsive beige-like anchor) molekül defektleri ve bunların genetik temellerinin gözden geçirilmesi amaçlanmıştır.
