• Asian Pacific Journal of Cancer Prevention
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• v.14 no.12
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• pp.7635-7638
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• 2013

Background: Sperm-associated antigen 9 (SPAG9) has been recently proposed as a novel biomarker for early diagnosis of several human tumors, including ovarian, cervical and breast cancers. Its clinical value remains to be clarified for endometrial cancer (EC). In this study, we investigated the utility of serum SPAG9 levels in diagnosis of EC and its association with important clinicopathological parameters. Materials and Methods: This cross-sectional study was performed at a tertiary women's referral center in Ankara, Turkey. Preoperative serum samples were collected from patients surgically treated for endometrial cancer between June 2012-April 2013. Similar aged women with a biopsy proven benign endometrium were used as controls. Serum SPAG9 levels were measured with an enzyme-linked immunosorbent assay (ELISA) method and assessed for links with clinicopathological factors. Receiver operating characteristic (ROC) curve analysis was performed to assess power of SPAG9 levels for EC prediction. P values less than 0.05 were considered statistically significant. Results: A total of 63 women with EC and 27 with benign endometrium were included in the study. Mean age in the EC group was $58.7{\pm}1.1$. Median SPAG9 levels in the EC and control groups were 18.3 (range, 12.7-53.8) and 14.1 (range, 4.3-65.3), respectively (p<0.001). A cut-off value of 17 ng/ml for SPAG9 predicted presence of malignant endometrium with 74% sensitivity and 83% specificity [Area under curve (AUC)=0.82, p<0.001]. SPAG9 levels did not demonstrate any significant association with histological type, FIGO stage, tumor grade, size, myometrial invasion, lymphovascular space invasion, cervical involvement, adnexal involvement, peritoneal cytology or lymph node status (all p>0.05). Conclusions: Testing for SPAG9 may be useful for early detection of EC in asymptomatic high-risk women. Its role in post-treatment follow-up and early detection of recurrence should be assessed in future trials.

• Journal of Genetic Medicine
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• v.10 no.1
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• pp.38-42
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• 2013

Purpose: The purpose of this study was to assess the characteristics of achondroplasia (ACH) diagnosed in fetuses or neonates and to evaluate the usefulness of a molecular genetic testing to confirm ACH. Materials and Methods: The medical and ultrasonographic records of 16 pregnant women, who had molecular genetic testing for ACH performed on their fetus or neonate at the Cheil General Hospital between February 1999 and April 2013, were retrospectively analyzed. Detection of G1138A and G1138C mutations of the fibroblast growth factor receptor 3 (FGFR3) gene was accomplished by polymerase chain reaction - restriction fragment length polymorphism analysis. Results: Of the eight fetuses and two neonates who were suspected of having ACH during pregnancy, four fetuses and one neonate was confirmed to have ACH and they all carried the heterozygous G1138A mutation. Out of 6 cases which had a history of ACH in prior pregnancies, three had genetic information for the previous fetuses while the other three did not. All six fetuses had no mutations at G380R. However, the one fetus of pregnant woman with non-confirmed ACH showed shortened long bone on ultrasound thereafter and the fetus was identified as having oto-spondylo-megaepiphyseal dysplasia after birth. Conclusion: Korean patients with achondroplasia have the heterozygous G1138A mutation that is most commonly defined in other countries. Molecular genetic evaluations of ACH are helpful not only for establishing diagnosis but for appropriate counseling with subsequent pregnancies.

• Asian Pacific Journal of Cancer Prevention
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• v.14 no.11
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• pp.6693-6696
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• 2013

Background: Cold knife conization is a surgical procedure that allows both diagnosis and treatment of cervical lesions at the same time. It is mainly performed for indications of high-grade cervical intraepithelial neoplasia (CIN). In this study, we aimed to investigate the clinical outcome of cases without CIN in cold knife conization specimen, following a high-grade lesion (CIN2/3) in cervical biopsy. Materials and Methods: We performed a retrospective cohort study at a tertiary referral hospital between January $1^{st}$ 2008 and August $1^{st}$ 2012. Cases that underwent cold knife conization for CIN2/3 within the study period were included. Cone-negative (Group 1) and cone-positive (Group 2) cases were analyzed for various clinical parameters, and were compared in the 1-year post-conization period for histological recurrence and human papillomavirus (HPV) DNA status. Results: A total of 173 women underwent cold knife conization for CIN2/3 within the study period. Twenty-two cases (12.7%) were included in Group 1 and 151 cases (87.3%) in Group 2. There were no significant differences between the two groups in terms of age, gravidity, parity, menopausal status and HPV-DNA status (pre-conization and 1 year post-conization) (p>0.05). Recurrence rates were also similar between the groups (9.1% vs 9.9%, p>0.05). Conclusions: Clinical outcomes were similar in terms of histological recurrence and HPV persistence after 1 year of follow-up between cone-negative and cone-positive cases. Clinical follow-up of cone-negative cases should therefore be performed similar to cone-positive cases.

• Clinical and Experimental Reproductive Medicine
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• v.38 no.1
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• pp.47-52
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• 2011

Objective: To determine whether characteristics of sperm motility obtained by computer-assisted sperm analysis (CASA) could predict pregnancy after intrauterine insemination (IUI) in couples with unexplained infertility. Methods: Three hundred eighty-three cycles of intrauterine insemination with superovulation were retrospectively analyzed. Semen analysis was performed with CASA before and after swim-up and the parameters were compared between pregnant and non-pregnant women. Results: The pregnancy rate per cycle was 14.1%. Pregnant and non-pregnant women were comparable in terms of age, infertility duration, the number of dominant follicles. While sperm concentration, motility, and parameters such as average path velocity (VAP) and percentage rapid (RAPID) before semen preparation were significantly different between the pregnancy and non-pregnancy groups, there were no differences in sperm parameters when comparing the two groups after preparation. Using a receiver operating characteristic curve to measure sensitivity and specificity, the optimal threshold value for the predictors of pregnancy was revealed to be a concentration of ${\geq}111{\times}10^6/mL$, a motility of ${\geq}$ 51.4%, and RAPID ${\geq}$ 30.1% before preparation for IUI. Conclusion: Sperm parameters including concentration, motility, and RAPID before sperm preparation could have predictive value for pregnancy outcome after intrauterine insemination with superovulation in couples with unexplained infertility, and would be helpful when counseling patients before they make the decision to proceed with IVF/ICSI-ET.

• Clinical and Experimental Reproductive Medicine
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• v.51 no.3
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• pp.268-275
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• 2024

Objective: The purpose of this study was to evaluate the impact of preimplantation genetic testing for aneuploidy (PGT-A) on clinical outcomes among high-risk patients. Methods: This retrospective study involved 1,368 patients and the same number of cycles, including 520 cycles with PGT-A and 848 cycles without PGT-A. The study participants comprised women of advanced maternal age (AMA) and those affected by recurrent implantation failure (RIF), recurrent pregnancy loss (RPL), or severe male factor infertility (SMF). Results: PGT-A was associated with significant improvements in the implantation rate (IR) and the ongoing pregnancy rate/live birth rate (OPR/LBR) per embryo transfer cycle in the AMA (39.3% vs. 16.2% [p<0.001] and 42.0% vs. 21.8% [p<0.001], respectively), RIF (41.7% vs. 22.0% [p<0.001] and 47.0% vs. 28.6% [p<0.001], respectively), and RPL (45.6% vs. 19.5% [p<0.001] and 49.1% vs. 24.2% [p<0.001], respectively) groups, as well as the IR in the SMF group (43.3% vs. 26.5%, p=0.011). Additionally, PGT-A was associated with lower overall incidence rates of pregnancy loss in the AMA (16.7% vs. 34.3%, p=0.001) and RPL (16.7% vs. 50.0%, p<0.001) groups. However, the OPR/LBR per total cycle across all PGT-A groups did not significantly exceed that for the control groups. Conclusion: PGT-A demonstrated beneficial effects in high-risk patients. However, our findings indicate that these benefits are more pronounced in carefully selected candidates than in the entire high-risk patient population.

• Asian Pacific Journal of Cancer Prevention
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• v.15 no.16
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• pp.6905-6910
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• 2014

Background: The relation ofsurvivin gene expression to survival and surgical prognostic factors in the patients with endometrial carcinoma is unclear. Materials and Methods: In this study, 62 cases who were operated due to endometrial carcinoma were investigated between 2003 and 2011 in the the gynecological oncology clinic of Female Disease Training and Investigation Hospital of Etlik Zubeyde, Hanim, Turkey. Clinical and surgical prognostic factors were investigated by screening the records of these cases. With the standard streptavidin-biotin immune peroxidase method, cytoplasmic and nuclear expression of survivin was investigated in sections with specific antibodies (1:100, diagnostic Bio Systems, USA) primer. The aim was to elucidate any relation between survivin expression and defined prognostic factors and survival. Results: There was no statistically significant relationship between cytoplasmic and nuclear indexes identified for survivin and age, body mass index, the levels of preoperative hemoglobin, platelet and Ca 125, stage, grade, lymph node meastasis, the number of meta statical lymph nodes (total, paraaortic and pelvic), myometrial invasion, serosal invasion, adnexal involvement, the presence of acid in the first diagnosis, the involvement of omentum, the adjuvant treatment application of the cases, the presence of recurrence and rate of mortality (p>0.05). Statistical significance was noted for the presence of advanced stage lymph node metastasis (pelvic, paraaortic, pelvic and paraaortic), serosal involvement, positive cytology, lymph vascular space invasion, intra abdominal metastasis, and omentum involvement. When investigated the relation between cytoplasmic and nuclear survivin indexes and total survival, the result was not statistically significant (p>0.05). Conclusions: In our study, there was no statistically significant relationship between the rates of cytoplasmic and nuclear survivin expression with identified prognostic factors and total or non-disease survival.

• Neonatal Medicine
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• v.25 no.3
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• pp.126-130
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• 2018

Parkes Weber syndrome is a rare congenital vascular anomaly, related to the RAS p21 protein activator 1 (RASA1) gene. It is characterized by capillary cutaneous malformations, bony and soft tissue hyperplasia, and multiple arteriovenous fistulas throughout the affected upper or lower extremity. These arteriovenous fistulas can be associated with life-threatening complications such as bleeding, thrombosis, and high output heart failure. In this report, we present a neonate who had a disproportionately hypertrophied left upper limb with port-wine stain, dystrophy of the left humerus, and hypertrophy of the left clavicle on X-ray, and arteriovenous malformation and massive dilatation of the left subclavian artery on magnetic resonance angiography. Exome sequencing analysis revealed a novel heterozygous splicing mutation (c.1776+2T>A) in the RASA1 gene. To the best of our knowledge, this report is the first case of RASA1-related Parkes Weber syndrome in Korea.

• Journal of Genetic Medicine
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• v.3 no.1
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• pp.21-24
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• 1999

To study the X chromesome mosaicism in the cytogenetically pure 45,X Turner syndrome patients, we applied PCR technique using DNAs extracted from archived cytogenetic slides. We amplified the DNAs using nested primers targeted to a highly polymorphic short tandem repeat(STR) of the human androgen receptor gene(HUMARA) for the detection of X chromosome mosaicism. This assay is a very sensitive and useful method which can be applied to the DNAs extracted from archived cytogenetic slides to detect X mosaicism. We have tested 50 normal Korean females to determine whether the HUMARA locus is highly polymorphic among Koreans. 85% of Korean population showed heterozygosity in the HUMARA locus. We analysed the 24 DNAs extracted from archived slides of patients and abortuses with Turner syndrome in cytogenetic analysis. We observed the heterozygosities of 50% from pure 45,X patients, 83% from the patients with mosaic Turner syndrome and 8.3% from the abortuses of pure 45,X. Using the PCR technique of the HUMARA locus in the archived cytogenetic slides, we detected X chromosome mosaicism which could not be detected in cytogenetic analysis.

• Asian Pacific Journal of Cancer Prevention
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• v.14 no.1
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• pp.511-514
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• 2013

Background: A small but significant proportion of cases with atypical squamous cells of undetermined significance (ASCUS) may harbour CIN 2-3, or even invasive carcinoma. Although immediate colposcopy, HPV-DNA testing or expectant management are three recommended options in ASCUS triage, a consensus does not currently exist on which one of these approaches is the most efficient. In this study, we aimed to compare the performance and cost of immediate colposcopy and colposcopy based on the human papillomavirus (HPV) testing for detecting histologically confirmed high-grade cervical intraepithelial neoplasia (CIN) in women with ASCUS. Materials and Methods: Records of 594 women with an index Papanicolaou smear showing ASCUS were retrospectively analyzed. Women in the immediate colposcopy arm were referred directly to colposcopy (immediate colposcopy group, n=255) and those in the HPV triage arm were proceeded to colposcopy if the high-risk HPV (hrHPV) test was positive (HPV triage group, n=339). High grade CIN (CIN2+) detection rate and treatment costs were compared between the groups. Results: The detected rate of CIN2+ was higher in the HPV triage group compared to immediate colposcopy group (8% vs. 1.6%, p=0.011). In the HPV triage group, the total cost, cost per patient, and the cost for detecting one case of high grade CIN were higher than the immediate colposcopy group (p<0.001). Conclusions: In women with ASCUS cytology, HPV DNA testing followed by colposcopy is more costly than immediate colposcopy, but this approach is associated with a higher rate of CIN2+ detection. This findings suggest that HPV DNA testing combined with cervical cytology could reduce the referral rate to colposcopy.

• 대한생식의학회:학술대회논문집
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• 2002.05a
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• pp.66-67
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• 2002