Yazar "Zamani, Ayse Gul" seçeneğine göre listele
Listeleniyor 1 - 8 / 8
Sayfa Başına Sonuç
Sıralama seçenekleri
Öğe Association of Apolioprotein E Polymorphism with Intravitreal Ranibizumab Treatment Outcomes in Age-Related Macular Degeneration(KARGER, 2014) Bakbak, Berker; Ozturk, Banu Turgut; Zamani, Ayse Gul; Gonul, Saban; Gedik, Sansal; Yildirim, Selman; Okudan, Suleyman[Abstract not Available]Öğe Association of Apolipoprotein E Polymorphism with Intravitreal Ranibizumab Treatment Outcomes in Age-Related Macular Degeneration(TAYLOR & FRANCIS INC, 2016) Bakbak, Berker; Ozturk, Banu Turgut; Zamani, Ayse Gul; Gonul, Saban; Iyit, Neslihan; Gedik, Sansal; Yildirim, M. SelmanPurpose: Genetic factors are known to influence the response to anti-vascular endothelial growth factor (VEGF) treatment in exudative age-related macular degeneration (AMD). The current study was conducted to investigate the association of Apolipoprotein E (ApoE) polymorphism with the treatment response to ranibizumab for exudative AMD.Methods: One hundred nine eyes (109 patients, 59.6% male, mean age 63.847.22 years) treated with intravitreal ranibizumab injections were included in the analysis. Smoking status and lesion type were recorded. Patients were categorized into three groups according to visual acuity (VA) change at 6 months after the first injection: VA loss >5 Early Treatment Diabetic Retinopathy Study (ETDRS) letters (Group 1); VA change between five ETDRS letters gain and loss (Group 2); VA improvement >5 ETDRS letters (Group 3). The association of ApoE gene polymorphisms with the three groups was evaluated.Results: Both smoking status and lesion type showed no significant association with VA change (p=0.12 and p=0.64, respectively). A lower frequency of 2 and a higher frequency of 4 were observed in Group 3 (2.9 and 25.7%, respectively). VA improvement with more than five ETDRS letters was significantly associated with the presence of the 4 genotype (p=0.01).Conclusions: This study demonstrated that carriers of the ApoE 4 polymorphism genotype show demonstrable improvement in VA after treatment with ranibizumab in exudative AMD. ApoE polymorphism identification may be used as a genetic screening to tailor individualized therapeutic approach for optimal treatment in neovascular AMD.Öğe Distal trisomy 10q24 due to maternal 10;22 translocation, third case in the same family(VERSITA, 2012) Tasdemir, Pelin; Zamani, Ayse Gul; Demirel, Sennur S.; Acar, AynurDistal trisomy 10q is a well delineated but a rare syndrome with characteristic phenotypic features. We present clinical and cytogenetic data on a 7 day-old girl with distal 10q trisomy (10q24 -> qter), due to maternal t(10.22) reciprocal translocation. Her karyotype showed an unbalanced translocation between chromosomes 10 and 22, resulting in trisomy of the distal part of the long arm of chromosome 10q24.Öğe Genetic analysis of MEFV gene pyrin domain in patients with Behcet's disease(HINDAWI LTD, 2006) Dursun, Ahmet; Durakbasi-Dursun, Hatice Gul; Zamani, Ayse Gul; Gulbahar, Zerrin Gulin; Dursun, Recep; Yakicier, CengizObjectives. Behcet's disease (BD) is a systemic vasculitis with recurrent oral and genital ulcers and uveitis. MEFV gene, which is the main factor in familial Mediterranean fever (FMF), is also reported to be a susceptibility gene for BD. The pyrin domain of MEFV gene is a member of death-domain superfamily and has been proposed to regulate inflammatory signaling in myeloid cells. This study was designed to determine if mutations in pyrin domain of MEFV gene are involved in BD. Methods. We analyzed the pyrin domain of MEFV gene in 54 Turkish patients with BD by PCR-analysis and direct sequencing. Results. Neither deletion or insertion mutations nor point mutations in pyrin domain were found in any patient. Conclusion. Although pyrin gene mutations have been reported in patients with BD, pyrin domain is not mutated. However, alterations in other regions of MEFV gene and interaction between pyrin domains are needed to be further investigated. Copyright (c) 2006 Ahmet Dursun et al.Öğe Male infertility associated with de novo pericentric inversion of chromosome 1(AVES, 2017) Balasar, Ozgur; Zamani, Ayse Gul; Balasar, Mehmet; Acar, HasanInversion occurs after two breaks in a chromosome have happened and the segment rotates 180 degrees before reinserting. Inversion carriers have produced abnormal gametes if there is an odd number crossing-over between the inverted and the normal homologous chromosomes causing a duplication or deletion. Reproductive risks such as infertility, abortion, stillbirth and birth of malformed child would be expected in that case. A 54-year-old male patient was consulted to our clinic for primary infertility. The routine chromosome study were applied using peripheral blood lymphocyte cultures and analyzed by giemsa-trypsin-giemsa (GTG) banding, and centromer banding (C-banding) stains. Y chromosome microdeletions in the azoospermia factor (AZF) regions were analyzed with polymerase chain reaction. Additional test such as fluorescence in situ hybridization (FISH) was used to detect the sex-determining region of the Y chromosome (SRY). Semen analysis showed azoospermia. A large pericentric inversion of chromosome 1 46, XY, inv(1) (p22q32) was found in routine chromosome analysis. No microdeletions were seen in AZF regions. In our patient the presence of SRY region was observed by using FISH technique with SRY-specific probe. Men who have pericentric inversion of chromosome 1, appear to be at risk for infertility brought about by spermatogenic breakdown. The etiopathogenic relationship between azoospermia and pericentric inversion of chromosome 1 is discussed.Öğe A new approach to chromosomal abnormalities in sperm from patients with oligoasthenoteratozoospermia: detection of double aneuploidy in addition to single aneuploidy and diploidy by five-color fluorescence in situ hybridization using one probe set(ELSEVIER SCIENCE INC, 2008) Durakbasi-Dursun, Hatice Gul; Zamani, Ayse Gul; Kutlu, Ruhusen; Gorkemli, Huseyin; Bahce, Muhterem; Acar, AynurObjective: To determine the frequencies of disomy, nullisomy, total aneuploidy, and diploidy in the sperms of infertile men. Design: A controlled prospective study. Setting: Assisted reproductive technology (ART)/IVF Unit and Department of Medical Biology and Genetics, Meram Medical Faculty, Konya, Turkey. Patient(s): Infertile men with oligoasthenoteratozoospermia (OAT) and normal fertile donors. Intervention(s): After slide preparation from semen samples, sperm nuclei were analyzed for chromosomes 13, 18, 21, X, and Y by five-color fluorescence in situ hybridization. Main Outcome Measure(3): The sperm aneuploidy (disomy and nullisomy) and diploidy rates were determined according to the number of signals detected for each probe in infertile and fertile men. Results: Patients with OAT had a significantly higher incidence of disomy (except chromosome 18 and XX disomy), nullisomy (except chromosome 18), and diploidy than normal fertile controls. In addition to double disomy, double nullisomy and disomy+nullisomy were observed in patients with OAT, but none of these were seen in controls. Conclusion(s): In this study patients with OAT had an increased rate of sperm aneuploidy and diploidy. This finding suggest that patients with OAT may be at an increased risk of producing aneuploid and triploid offsprings. For this reason, it may be very, important to perform the sperm fluorescence in situ hybridization in patients with OAT. Thus, a more informative genetic counseling might be given to couples with male factor infertility who are at an increased risk of having Aneuploid offsprings and triploid conceptions before intracytoplasmic sperm injection (ICSI). (Fertil Steril (R) 2008;89:1709-17. (c) 2008 by American Society for Reproductive Medicine.).Öğe A patient with de novo ring chromosome 5(SPRINGER, 2011) Acar, Aynur; Zamani, Ayse Gul; Yildirim, M. Selman; Durakbasi, Hatice Gul; Balasar, Mine[Abstract not Available]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.
