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Öğe A case with mental retardation and a translocation between chromosomes 6 and Y(KARGER, 1997) Durakbaşı, Hatice Gül Dursun; Zamani, A.; Acar, H.; Acar, A.[Abstract not Available]Öğe Evaluation of the results of cordocentesis(Elsevier (Singapore) Pte Ltd, 2007) Acar, A.; Balcı, O.; Gezginç, K.; Önder, C.; Çapar, M.; Zamani, A.; Acar, A.Objective: To evaluate the results of cordocentesis carried out in our clinic at Meram Medicine Faculty of Selcuk University in Konya, Turkey. Materials and Methods: Cytogenetic results and complication data were obtained by cordocentesis from 250 pregnancies performed in our clinic. Results: Adequate amount of cord blood was taken 98% of the time, the successful culture rate was 92.8%, and none of the 18 cases in which no proliferation was detected in the culture accepted a new intervention. Cordocentesis was performed in 14 cases (5.6%), because no results were obtained from amniocentesis carried out for various indications. According to cytogenetic evaluation, chromosomal abnormality was detected in 12 cases (5.17%), including four cases of trisomy 21, four cases of trisomy 18, one case of trisomy 13, one case of triploidy (69,XXX) and two cases of chromosomal inversion. Of the 250 cordocentesis cases, there were 12 (4.8%) cases of fetal loss, including four cases of rupture of membranes, four cases of abdominal pain and vaginal bleeding and four cases of a spontaneous abortus. In 53 (21.2%) cases, cordocentesis was performed because of hydrops fetalis; and of the total 12 losses, six were in this group. The fetal loss rate was 11.32% in the hydrops fetalis group. Conclusion: If cordocentesis is carried out by highly skilled physicians and optimal culture conditions are available, cordocentesis is an invasive prenatal diagnostic and therapeutic procedure that is performed secondary to amniocentesis with high accuracy and safety. In cases of hydrops fetalis in which cordocentesis is carried out, fetal loss is more likely to occur.Öğe K-ras oncogene mutation in pterygium(NATURE PUBLISHING GROUP, 2017) Ozturk, B. T.; Yildirim, M. S.; Zamani, A.; Bozkurt, B.Purpose Pterygium is claimed to be a benign proliferation triggered by prolonged exposure to ultraviolet radiation. The frequency of K-ras oncogene mutation, which is among the initial mutations in tumorigenesis, is evaluated in this study. Patients and methods In this prospective randomized clinical, trial pterygium tissues and normal conjunctiva tissue specimens are obtained from the superotemporal quadrant of patients who underwent primary pterygium excision with autograft transplantation. DNA extraction from tissues was performed using the QIAamp DNA FFPE tissue kit. A PCR reaction was performed to amplify sequences containing codons 12, 13, and 61 of the K-ras gene in DNA. These PCR products then underwent the ` pyrosequencing' procedure for mutations at these codons. Results Pterygium and normal conjunctival tissue samples of 25 patients (10 females, 15 males) were evaluated in the study. The mean age of the patients was 54.54 +/- 13.13 years. Genetic analysis revealed no K-ras mutations in normal conjunctival tissues, whereas pterygium tissues of the same cases demonstrated mutation at codon 12 in one case and mutations at codon 61 in seven cases, which was statistically significant (P<0.05). The point missense mutations at codon 61 were glutamine to arginine (Glu61Arg CAA>CGA) in four cases and glutamine to leucine (Glu61Leu CAA>CTA) in three cases. Conclusion The significantly higher frequency of codon 61 mutation of the ras oncogene in primary and bilateral pterygium specimens compared with normal conjunctiva supports the tumoral origin of pterygium, and thus set the stage for research into a targeted therapy for pterygium with better outcomes than surgical excision.
