Aynur Acar

The treatment of 65 women with imperforate hymen by a central incision and application of Foley catheter.

Objective  To determine the surgical outcome of 65 women with imperforate hymen treated with a central surgical incision and insertion of a Foley catheter.

Extremely skewed X‐chromosome inactivation patterns in women with recurrent spontaneous abortion

Background:  The role of extremely skewed X‐chromosome inactivation (XCI) has been questioned in the pathogenesis of recurrent spontaneous abortion (RSA) but the results obtained were conflicting.

Y chromosome microdeletions in Turkish infertile men

AIMS: To detect the frequency and types of both chromosomal abnormalities and Y chromosome microdeletions in infertile men attending to our university intracytoplasmic sperm injection ICSI/IVF centre and fertile control subjects in our patient population. SETTINGS AND DESIGN: A total of 50 infertile men who were referred to IVF center of Meram medical faculty were selected for the molecular azospermia factor (AZF) screening program. MATERIALS AND METHODS: Karyotype analysis and polymerase chain reaction amplification using 15 Y-specific sequence-tagged sites of AZF region were done. RESULTS: The total prevalence of chromosomal abnormalities was found to be 10% (5/50), including 4 patients with numerical and 1 patient with structural abnormalities. Overall, 4 of the 50 patients tested (8%) exhibited deletions of the Y chromosome, 3 of them being azospermic and 1 of them oligospermic men. The frequency of the microdeletions in subgroups with azospermia and oligozoospermia was found to be 10.7% (3/29) and 4.7% (1/21) respectively. Microdeletions of AZFb and AZFc regions were detected in all of the 4 patients. Neither AZFa nor AZFd microdeletions were indicated. CONCLUSIONS: Our findings suggest that one must know whether there is a genetic cause for male infertility before patients can be subjected to ISCI or testicular sperm extraction (TESE)/ISCI treatment.

Evaluation of smoking genotoxicity in Turkish young adults.

BACKGROUND: For the past few decades, it has been widely known in developed countries that tobacco is dangerous, but it is still insufficiently realized how big these dangers really are. AIMS: To determine and evaluate micronuclei (MN) frequencies of young smokers and nonsmokers in three different tissues (peripheric blood lymphoctes, buccal mucosa, and exfoliative urothelial cells) at the same time. MATERIALS AND METHODS: MN assay was performed on buccal mucosa, urothelial cells, and peripheric blood lymphocyte samples obtained from 15 healthy male smokers (>5 pack-years) and 15 healthy male nonsmoker controls who had not been exposed to any known genotoxic agent. STATISTICAL ANALYSIS USED: The statistical differences between smoker and nonsmoker groups were calculated by using student t test. The differences between smoker-group tissues were compared by ANOVA. RESULTS: It was found that MN frequency (mean value ± standard deviation) in oral mucosa cells from smokers and controls were 1.20 ± 0.22% and 0.26 ± 0.10%; in urothelial exfoliative cells, 1.29 ± 0.28% and 0.12 ± 0.08%; in peripheric blood lymphocytes, 1.53 ± 0.23% and 0.38 ± 0.12%, respectively. The mean MN frequencies in buccal mucosa, urothelial exfoliative cells, and peripheric blood lymphocytes were significantly higher in smokers than in those of controls (P<0.05). All tissues were affected from smoking, but the most destructive effect was seen in urothelial cells of smokers (P<0.05). CONCLUSIONS: Our data showed that cigarette smoke is a DNA damage causitive agent on exfoliative buccal mucosa and urothelial cells and peripheric blood lymphocytes of young smokers, but it has most destructive effect on urothelial cells.

EVALUATION OF THE RESULTS OF CORDOCENTESIS

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.

Simultaneous Occurrence of Chronic Myelogenous Leukemia and Non-Hodgkin Lymphoma at Diagnosis

We describe a case with the simultaneous occurrence of chronic myelogenous leukemia (CML) and non-Hodgkin lymphoma (NHL). Peripheral blood (PB) and bone marrow (BM) smears showed typical CML features. Lymph node biopsy exhibited a large-cell NHL. The Philadelphia chromosome or its molecular counterpart, the BCR-ABL gene fusion, by detecting with dual color-(DC) fluorescence in situ hybridization (FISH), was detected reliably both in metaphase spreads from BM and in interphase nuclei from BM and follow-up PB cells, but was not detected in the lymph node cells. Clinical features and laboratory findings show this case having a coexistence of CML and NHL.

Recurrent proximal 18p monosomy and 18q trisomy in a family due to a pericentric inversion

Here, we report on a family with pericentric inversion of chromosome 18 [inv(18)(p11.2q21)] and two recombinants with a duplication of q21 → qter and a deletion of p11.2 → pter regions in a four‐generation family. This chromosomal abnormality was inherited in our first patient from the father, while it was transmitted to the second patient from the mother. Array‐CGH analysis were used to better characterize duplicated and deleted chromosomal regions and showed no genomic copy number variation (CNV) differences between these two relatives. We discussed genotype‐phenotype correlations including previously reported.

Micronuclei frequencies in lymphocytes and cervical cells of women with polycystic ovarian syndrome

Objective: The aim of this study was to determine micronucleus (MN) frequencies in exfoliated cervical cells and peripheral blood lymphocytes of women with polycystic ovarian syndrome (PCOS). Materials and Methods: Fifteen patients with PCOS and 11 healthy control patients were included in the study. Cervical smears and peripheral blood were collected from all patients. Specimens were analyzed for MN frequencies and compared between the groups. In addition to MN, other nuclear anomalies connected with both genotoxicity and cytotoxicity were evaluated. Results: The MN frequencies in cervical smear and peripheral blood lymphocytes were compared in patients with PCOS and normal controls. There was no statistically significant difference between the groups regarding micronucleus frequency in peripheral blood lymphocytes (p=0.239). The mean MN scores in exfoliated cervical cells of patients with PCOS and normal controls were 1.19±0.57 and 0.74±0.34, respectively. The difference regarding micronucleus frequencies in cervical cells was statistically significant between the groups (p=0.032). Conclusion: Although study group is small, our study results support that there is an increased micronucleus frequency in cervical exfoliated cells of PCOS patients; this is a determinant of genetic hazard in the disease.

Distal trisomy 10q24 due to maternal 10;22 translocation, third case in the same family

Distal 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.

Transvaginal Burch operation for stress urinary incontinence: 5-year results

Several techniques have been developed for the management of stress urinary incontinence (SUI). To establish 5‐year outcomes for women who underwent our previously described new retropubic suspension operation (transvaginal Burch operation) for SUI at the Meram Medicine Faculty, a prospective study was performed on 231 women who had been operated on for stress incontinence and who had completed 5 years of follow up. We observed complete remission during the follow‐up period in 215 women (93%). No major complication related to the procedure was reported, and results were found to be satisfactory and encouraging.