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Öğe Chromosome heteromorphisms are more frequent in couples with recurrent abortions(Funpec-Editora, 2012) Akbas, H.; Isi, H.; Oral, D.; Turkyilmaz, A.; Kalkanli-Tas, S.; Simsek, S.; Balkan, M.Chromosomal heteromorphism is considered a variant of a normal karyotype, but it is more frequent in couples with repeated miscarriages. We investigated chromosomal heteromorphism in couples with repeated miscarriages in comparison with a control group. A total of 455 couples who applied to our genetic diagnosis laboratory in Diyarbakir, Turkey, were evaluated for chromosome heteromorphisms; 221 of these couples (the study group) had recurrent abortions and 234 of them (the control group) had no history of abortions and had at least one living child. The patient group of couples with recurrent abortions were found to have a significantly higher rate of chromosome heteromorphism (8.4%) in comparison with the control group (4.9%). When the patients were evaluated according to gender, males had a significantly higher rate of chromosome heteromorphism (11.3%) than females (5.4%). We conclude that since couples with recurrent abortion and males have higher rate of chromosome heteromorphism, cases of heteromorphism should not be disregarded in the etiological investigation of recurrent abortions. Further research should be done to investigate the phenotypic effects of chromosome heteromorphism.Öğe Cytogenetic analysis of 4216 patients referred for suspected chromosomal abnormalities in Southeast Turkey(Funpec-Editora, 2010) Balkan, M.; Akbas, H.; Isi, H.; Oral, D.; Turkyilmaz, A.; Kalkanli, S.; Simsek, S.We reviewed cytogenetic studies performed on 4216 patients who were referred to the Cytogenetics Unit at Dicle University Hospital, Diyarbair, Southeast Turkey, between 2000 and 2009. The cases were grouped according to the reason of referral for cytogenetic analysis. The frequencies of the different types of numerical and structural abnormalities were determined, and the relative frequency of cases with abnormal karyotypes was calculated in each group. The most common reason for requesting cytogenetic testing was referral for Down syndrome and for repeated abortions. The highest frequencies of abnormal karyotypes were found among cases that were referred due to suspicion of Down syndrome (84.8%). Among the chromosomal abnormalities, sexual chromosomal abnormalities were found in 239 cases (17.6%), and Klinefelter syndrome was the most frequent sex chromosomal abnormality. Autosomal abnormalities were found in 1119 cases (82.4%), and Down syndrome was the most frequent autosomal chromosomal abnormality. In conclusion, the high rate of chromosomal abnormalities (32.2%) found in this population demonstrates the importance of cytogenetic evaluation in patients who show clinical abnormalities. This is the first report on cytogenetic testing in the southeast region of Turkey. This type of study provides a basis for determining the risks of recurrence and for deciding on clinical treatment and genetic counseling.Öğe Evaluation of clinical and cytogenetic findings on 1,068 second-trimester amniocenteses in Southeast Turkey(7847050 Canada Inc, 2011) Balkan, M.; Akbas, H.; Kalkanli, S.; Sakar, M. N.; Fidanboy, M.; Alp, M. N.; Budak, T.Objective: To investigate the indications of amniocentesis for the detection of chromosomal abnormalities among a sample of patients in Southeast Turkey. Material and Methods: Between 2004 and 2007, 1,068 second-trimester amniocentesis tests were performed in the Medical Biology and Genetics Department Laboratory at Dicle University. Amniotic fluids were cultured by using long-term tissue culture for prenatal diagnosis with cytogenetic analysis. The clinical and cytogenetic findings on 1,068 second-trimester amniocenteses were analyzed. The indications, the proportions of karyotypes according to indications and complications were summarized. Results: Among the 1,068 amniocentesis cases, the maternal age between 35 and 39 years was the most common age group (34.5%). Of the clinical indications abnormal maternal serum screening results were the most common indication for amniocentesis (37.6%). Of 52 cases (4.9%) with detected chromosomal aberrations, 39 were numeric (27 trisomies, 10 sex chromosome aberrations and two triploidies) and 13 were structural (2 reciprocal translocations, 2 Robertsonian translocations and 6 inversions). The highest detection rate of chromosome aberrations was in cases undergoing amniocentesis for abnormal maternal serum screening combined with abnormal ultrasound (US) findings (8.0%). Conclusion: This study suggests that complementary measures, such as routine antenatal US and maternal serum screening, should be added to increase the efficiency of genetic amniocentesis. Therefore, the study could be used for the establishment of a database for genetic counseling.Öğe Genetics Analysis with Down Syndrome and Histopathological Examination of Buccal Epithelial Cells(Soc Chilena Anatomia, 2013) Kalkanli, S.; Simsek, S.; Balkan, M.; Akbas, H.; Isi, H.; Oral, D.; Turkyilmaz, A.Down syndrome is primarily caused by trisomy of chromosome 21. We reviewed cytogenetic studies performed on 1048 patients who were referred to the Cytogenetics Unit at Dicle University Hospital, Diyarbakir, Southeast Turkey, between 2000 and 2009. The cases were grouped according to the reason of referral for cytogenetic analysis. The highest frequencies of abnormal karyotypes were found among cases that were referred due to suspicion of Down syndrome (84.8%). For histologic examination to persons with Down syndrome and normal, buccal mucosa smear was prepared by rubbing. Down syndrome are disabled and control groups were compared statistically buccal epithelial cells and nuclei (p<0.05). Periphery of the nucleus in some patients with Down's syndrome, while the bud structures in the form of micronuclei was observed in the karyolytic cells.Öğe No association between catalase (CAT) gene polymorphisms and susceptibility to vitiligo in a Turkish population(Soc Editrice Univ, 2013) Akbas, H.; Dertlioglu, S. B.; Dilmec, F.; Balkan, M.Background and Aims. Vitiligo is an acquired hypomelanotic skin disorder resulting from the loss of functional melanocytes from the cutaneous epidermis. Low catalase (CAT) activity and Accumulation of hydrogen peroxide (H2O2) have been demonstrated in the epidermis of vitiligo patients. Some polymorphisms on catalase gene may have effect on the quantity and activity of catalase enzyme. The aim of this study was to investigate whether catalase (CAT) gene polymorphisms are associated with susceptibility to vitiligo in Turkish population. Materials and Methods. One hundred and three patients with vitiligo and one hundred and seven gender, age and ethnic matched controls were enrolled in the study. Genotyping was done by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP). Results. The CAT gene -89A>T (rs7943316) and 389C>T (rs769217) genotypes and allele frequencies of vitiligo patients did not differ significantly from those of healthy controls. Conclusions. We found no association between CAT gene -89A>T and 389C>T polymorphism and vitiligo susceptibility in Turkish vitiligo patients. Further studies with greater sample size should be performed to verify these results.Öğe Role of p53 codon 72 polymorphism in chromosomal aberrations and mitotic index in patients with chronic hepatitis B(Assoc Bras Divulg Cientifica, 2012) Akbas, H.; Yalcin, K.; Isi, H.; Tekes, S.; Atay, A. E.; Akkus, Z.; Budak, T.Polymorphisms of the p53 gene, which participates in DNA repair, can affect the functioning of the p53 protein. The Arg and Pro variants in p53 codon 72 were shown to have different regulation properties of p53-dependent DNA repair target genes that can affect various levels of cytogenetic aberrations in chronic hepatitis B patients. The present study aimed to examine the frequency of chromosomal aberrations and the mitotic index in patients with chronic hepatitis B and their possible association with p53 gene exon 4 codon 72 Arg72Pro (Ex4+ 119 G>C; rs1042522) polymorphism. Fifty-eight patients with chronic hepatitis B and 30 healthy individuals were genotyped in terms of the p53 gene codon 72 Arg72Pro polymorphism by PCR-RFLP. A 72-h cell culture was performed on the same individuals and evaluated in terms of chromosomal aberrations and mitotic index. A high frequency of chromosomal aberrations and low mitotic index were detected in the patient group compared to the control group. A higher frequency of chromosomal aberrations was detected in both the patient and the control groups with a homozygous proline genotype (13 patients, 3 control subjects) compared to patients and controls with other genotypes [Arg/Pro (38 patients, 20 control subjects) and Arg/Arg (7 patients, 7 control subjects)]. We observed an increased frequency of cytogenetic aberrations in patients with chronic hepatitis B. In addition, a higher frequency of cytogenetic aberrations was observed in p53 variants having the homozygous proline genotype compared to variants having other genotypes both in patients and healthy individuals.Öğe A Successful Renal Transplantation Case After Stem Cell Transplantation(Elsevier Science Inc, 2015) Yilmaz, V. T.; Koksoy, S.; Ulger, B. V.; Salim, O.; Akbas, H.; Aliosmanoglu, I.; Erbis, H.Renal transplantation is the most effective treatment method for end-stage renal disease (ESRD). However, new treatment modalities are being investigated, such as immunotoleration, to avoid the acute and chronic side effects of immunosuppressant drugs. We report a case in which a man had undergone allogenic stem cell transplantation from his brother 16 years ago due to chronic myeloid leukemia, and who then developed ESRD due to arterial hypertension and underwent renal transplantation (Rtx) from the same brother. The patient was followed up without immunosuppression due to full chimerism.Öğe Two cases of distal trisomy 10q resulting from maternal balanced translocation(Springer, 2007) Akbas, H.; Oral, D.; Yildirim, R.; Fidanboy, M.; Budak, T.[Abstract Not Available]
