• Journal of Genetic Medicine
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• v.6 no.1
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• pp.56-61
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• 2009

Purpose: Preeclampsia is a multifactorial disorder with genetic and environmental components. Recently, the STOX1 gene, identified as a candidate gene for preeclampsia in Dutch women, has been shown to be placentally expressed and subject to imprinting with preferential transmission of the maternal allele. The purpose of this study is to investigate whether there is an association between the STOX1 Y153H variation and preeclampsia in Korean pregnant women. Materials and Methods: This study involved 202 preeclamptic and 204 healthy pregnant women who were genotyped for the Y153H variant of the STOX1 gene using a commercially available SNapShot assay kit and an ABI Prism 3730 DNA Analyzer. Results: There were no significant differences in genotype frequencies of the Y153H variant of the STOX1 gene between preeclamptic patients and normal controls (P>0.05). The H allele frequency of the STOX1 Y153H variation was similar in patients with preeclampsia (87.1%) and in normal controls (86.5%). In addition, multiple logistic regression analysis showed that the YH, HH, and YH/HH genotypes were not associated with an increased risk of preeclampsia when compared to the YY genotype. Conclusion: This is the first study to characterize the Y153H variant of the STOX1 gene in Korean patients with preeclampsia. We found no differences in the genotype and allele frequencies between preeclamptic and normal pregnancies. Although limited by a relatively small sample size, our study suggests that the STOX1 Y153H variation is not associated with the development of preeclampsia in Korean pregnant women.

• Journal of Genetic Medicine
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• v.6 no.1
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• pp.95-99
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• 2009

Prenatal diagnosis of rare autosome mosaicism involvingchromosomes other than chromosome 13, 18, 21 or the sex chromosome is encountered prognostic dilemma during genetic counseling. We report four cases of level III uncommon mosaicism of trisomy 5, 16 and 20,diagnosed prenatally. In case 1 with mosaic trisomy 20, there was a higher mosaic ratio of trisomy 20 in the repeat amniocentesis (62.1%) than in the first (36.6%) with normal fetal ultrasound finding except for a relatively small aorta on a 3-vessel view of the fetal heart. Case 2 showed a low rate of mosaic trisomy 20 (5.25%) in cultured amniocytes but normal karyotype in the repeat amniocentesis, who delivered a normal healthy baby. Case 3 showed a 13.6% of trisomy 16 mosaicism in the 30 cells of cultured amniocytes. Sixty cells from a fetal blood sample at termination showed non-mosaic 46,XX normal karyotype, while skin fibroblasts had 22.5% trisomy 16 in 40 metaphases. The autopsy showed ventricular septal defect (VSD). Case 4 with low grade mosaicism (10.5%) of trisomy 5 resulted in elective termination, though the ultrasoumd showed growsly normal fetus. Although level III mosaicism is regarded as true mosaicism, it is difficult to predict the outcome of the fetus with rare mosaic autosome trisomy. Therefore mosaic autosome trisomy of fetus should be carefully interpreted with more various approaches including repeat sampling and targeted fetal ultrasound.

• Clinical and Experimental Reproductive Medicine
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• v.24 no.1
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• pp.119-133
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• 1997

In spite of much progress in vitro fertilization and embryo transfer (IVF-ET) program, the pregnancy rate remains at 20-30%, and the endometrial implantation rate per embryo transferred at 10-15%. As a result, about 90% of embryos may fail to implant to the endometrium, and many attempts such as optimization of follicular development, improvement of in vitro culture system including coculture, and micromanipulation of zona pellucida have been made to improve embryonic implantation after IVF-ET. Recently, several procedures of assisted hatching (AH) using micromanipulation have been introduced, and pregnancies and births have been obtained after AH. To develop and establish AH as an effective procedure to improve embryonic implantation, AH with partial zona dissection (PZD) was performed in 116 cycles of 89 infertile couples who had previous repeated failures of standard IVF-ET more than two times (Group I: 71 cycles in 54 patients), or who had implantation failure of embryos with good quality (Group II: 15 cycles in 13), or who had undergone AH without specific indication (Group III: 30 cycles in 22) from January, 1995 to Februry, 1996, and the outcomes of AH were analyzed according to pregnancy rate. The number of oocytes retrieved after controlled ovarian hyperstimulation (COH) was $9.9{\pm}7.1$ in Group I, $11.5{\pm}4.5$ in Group II, and $7.9{\pm}6.4$ in Group III. The number of embryos transferred after AH was $4.7{\pm}1.8$ in Group I, $5.3{\pm}1.3$ in Group II, and $3.5{\pm}2.4$ in Group III. The mean cumulative embryo score (CES) was $56.8{\pm}30.0$ in Group I, $76.1{\pm}35.9$ in Group II, and $38.5{\pm}29.9$ in Group III. The overall clinical pregnancy rate per cycle and per patient was 12.7% (9/71) and 16.7% (9/54) in Group I, 33.3% (5/15) and 38.5% (5/13) in Group II, and 6.7% (2/30) and 9.1% (2/22) in Group III, respectively. There were significant differences in the numbers of oocytes retrieved and embryos transferred, CES, and the clinical pregnancy rate per cycle among three groups. There was a significant inverse correlation between basal serum FSH level and CES, and no pregnancy occurred in patients with CES less than 20. In conclusion, AH of human embryos with PZD prior to ET has improved the implantation and pregnancy rates in IVF-ET patients with the past history of repeated failures, especially in spite of transfer of embryos with good quality, and AH will provide a range of novel techniques which may contribute much to effective management of infertile couples.

• Clinical and Experimental Reproductive Medicine
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• v.31 no.2
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• pp.133-139
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• 2004

Objective: To investigate the association of FSH receptor (FSHR) polymorphism at position 680 with outcomes of controlled ovarian hyper-stimulation for IVF-ET in Korean women. Design: Genetic polymorphism analysis. Materials and Methods: The FSHR polymorphism was analyzed by PCR-RFLP in 172 ovulatory women below the age of 40 year. Patients with polycystic ovary syndrome, endometriosis, or previous history of ovarian surgery were excluded. Results: Genotype distribution was 41.9% for the Asn/Asn, 47.7% for the Asn/Ser, and 10.5% for the Ser/Ser FSHR genotype group. There was no difference in age of subjects and infertility diagnosis between genotype groups. When the patients were grouped according to their FSHR genotype, the basal levels of FSH (day 3) were significantly different among the three groups ($6.0{\pm}0.3\;IU/L$ (mean $\pm$ SEM), $5.8{\pm}0.3\;IU/L$, and $8.6{\pm}1.2\;IU/L$ for the Asn/Asn, Asn/Ser, and Ser/Ser groups, respectively, p=0.002). The Ser/Ser group showed a higher total doses of gonadotropins required to achieve ovulation induction, and a lower serum estradiol levels at the time of hCG administration compared with other two groups, but the differences were of no statistical significance. The numbers of oocytes retrieved were significantly different among the three groups ($8.6{\pm}0.8$, $9.9{\pm}0.6$, and $6.3{\pm}0.9$, for the Asn/Asn, Asn/Ser, and Ser/Ser groups, respectively, p=0.049). Clinical pregnancy rates were 42.4%, 25.9%, and 29.4% for the Asn/Asn, Asn/Ser, and Ser/Ser groups, respectively. Conclusion: Homozygous Ser/Ser genotype of FSHR polymorphism at position 680 was associated with decreased ovarian response to gonadotropin stimulation for IVF-ET.

• Clinical and Experimental Reproductive Medicine
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• v.31 no.2
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• pp.105-110
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• 2004

Objectives: Despite severe oligospermia, males with Y chromosome microdeletion can achieve conception through ICSI (Intracytoplasmic Sperm Injection). However, ICSI may not only result in the transmission of microdeletions but also the expansion of deletion to the offspring. The purpose of this study was to screen vertical transmission, expansion of microdeletions and de novo deletion in male fetuses conceived by ICSI. Materials and Methods: A total of 32 ICSI treated patients with their 33 (a case of twin) male fetuses conceived by ICSI were used to make this study group. Sequence-tagged sites (STSs)-based PCR analyses were performed on genomic DNA isolated from peripheral blood of fathers and from the amniocytes of male fetuses. Ten primer pairs namely, sY134, sY138, MK5, sY152, sY147, sY254, sY255, SPGY1, sY269 and sY158 were used. The samples with deletions were verified at least three times. Results: We detected a frequency of 12.5% (4 of the 32 patients) of microdeletions in ICSI patients. In 4 patients with detected deletions, two patients have proven deletions on single STS marker and their male fetuses have the identical deletion in this region. Another two patients have two and three deletions, but their male fetuses have more than 3 deletions which include deletions to their father's. Meanwhile, seven male fetuses, whose fathers were analyzed to have all 10 STS markers present, have deletions present in at least one or more of the markers. Conclusions: Although the majority of deletions on the Y chromosome are believed to arise de novo, in some cases a deletion has been transmitted from the fertile father to the infertile patient. In other cases the deletion was transmitted through ICSI treatment, it is likely that one sperm cell is injected through the oocyte's cytoplasm and fertilization can be obtained from spermatozoa. Our tests for deletion were determined by PCR and our results show that the ICSI treatment may lead to vertical transmission, expansion and de novo Y chromosome microdeletions in male fetuses. Because the sample group was relatively small, one should be cautious in analyzing these data. However, it is important to counsel infertile couples contemplating ICSI if the male carries Y chromosomal microdeletions.

• Journal of Yeungnam Medical Science
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• v.16 no.2
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• pp.169-180
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• 1999

Background: Uterine cervical cancer is the most common malignant tumor of the women in Korea. This study was undertaken to evaluate the usefulness of the cervicography as a screening test of cervical cancer. Materials and Methods: Cervicography was taken from 482 women at department of obstetrics and gynecology, at Yeungnam University Hospital from March 1, 1998 to October 31, 1999. Of the 482 women, 172 women were exc1uded from the study for various reasons, and 310 women completed the study. Three-hundred and ten women had cervical cytology (Papanicolaou smear), cervicography and colposcopy, and punch biopsy was undertaken if any of the test result was abnormal. Results: The most common age group was 35-39, and 40-44, 45-49 in order and most common reason for having a screening test was regular check for cervical cancer. The mean duration from the last Pap smear was 17.1 months, and 64 women(20.4%) never had any prior screening tests. Of the 310 women, 254 women were categorized as normal or having benign disease such as cervicitis, erosion or metaplasia. Biopsy was taken from 56 patients and the results were 26 chronic cervicitis, 4 mild dysplasia, 6 moderate dysplasia, 2 severe dysplasia, 14 carcinoma in situ and 4 invasive carcinoma. The results of cytology and cervicography were well correlated(p<0.05). The sensitivity and specificity of cytology were 86.7% and 76.9%, respectively and the sensitivity and specificity of cervicography were 56.7% and 96.2%, respectively. False negative rate of cervicography(43.3%) was much higher than those of cytology(13. 3%) (p<0.05), but false positive rate of cervicography(3.8%) was much lower than that of cytology(23.1%) (p<0.05). Conclusion: It seems inappropriate to use cervicography as a single screening test for cervival cancer, but it may be an effective complementary test for cytology to lower the false negative rate of cytology.

• Journal of agricultural medicine and community health
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• v.27 no.1
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• pp.115-123
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• 2002

Objective: The aim of this study was to evaluate the patterns of helicopter emergency medical services (HEMS) in Ullung Island. Methods : The authors reviewed the records from emergency room diaries and the lists of helicopter transfers in the Ullung Public Health Medical Center over the 5-year period from Jan 1, 1997 to Dec 31, 2001. Results : One hundred thirteen cases were transferred by helicopters in 88 flights. According to year, the number of flights was 13(14.8%) and the number of cases was 15(13.3%) in 1997; 17(19.3%) and 21(18.6%) in 1998; 18(20.5%) and 20(17.7%) in 1999; 17(19.3%) and 20(17.7%) in 2000; and 23(26.1%) and 37(32.7%) in 2001. According to the kind of helicopter, the number of flights was 46(52.3%) and the number of cases was 60(53.1%) by Maritime police; and 19(21.6%) and 28(25.1%) by 119 rescue. According to time zone, there were no night flights. According to sex and age, there were 75 male cases(66.4%) and 28 cases(28.3%) of patients aged sixty years and over. The number of flights was 11(12.5%) and the number of cases was 15(13.3%) in November; 10 flights(11.4%) and 14 cases(12.4%) in March; and 7 cases(8.0%) in each of September, October and April. The most common season of helicopter transfer cases was autumn. According to transfer area, there were 48 cases (42.5%) in Pohang city, Gyeonsangbukdo; 35(31.0%) in Gangnung city, Gangwondo; and 17(15.0%) in Daegu metropolitan city. According to condition, there were 27 cases(23.9%) of cerebro-vascular accident, 13(11.5%) of fracture and 11(9.7%) of head injury. According to admission department, there were 42 cases(37.2%) in Neurosurgery, 21(18.6%) in Internal Medicine and 13(11.5%) in Orthopedic Surgery. According tothe Korea Standard Classification of Disease(3-KSCD), circulatory systemic disease(IX) and injury, intoxication and others (XIX) were the two most frequent categories with 34 cases(30.1%) each, followed by digestive system disease (XI) with 23 cases(20.4%). Conclusions : HEMS in Ullung Island leave much to be desired. Helicopters cannot make a night flight and are not equipped with medical facilities. HEMS in islands such as Ullung Island are essential. We hope that night flights, equipment-monitoring systems for emergency patients in the helicopters, and a law related to HEMS in the island will all be established.

• Journal of Embryo Transfer
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• v.19 no.3
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• pp.201-208
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• 2004

This study was performed to examine the effects of catalase and $\beta$-mercaptoethanol ($\beta$ME) on the establishment of clonal lines from porcine fetal fibroblast cells. Fibroblasts derived from a pig fetus (Day 50) were passaged two times before use. A single cell was seeded in 96-well plates and cultured in medium supplemented with or without catalase or $\beta$ ME. Cell colonies were passaged two times into 4-well dish. Cell lines with proliferating potential were classified as an established clonal cell line. In experience 1, the establishment efficiencies were examined by addition of catalase (100ng/$m\ell$) or $\beta$ME (100 uM) in culture medium. The establishment efficiency of $\beta$ME-added group (8.3％) was significantly higher than that of control group (3.2％, P<0.05). However, catalase did not have a positive efffct on the establishment efficiency. In experience 2, the establishment efficiencies were examined by addition of different concentrations of catalase (0-1,000 ng/$m\ell$) in culture medium. However, establishment efficiencies were not different among the different concentrations of catalase (0-2.6％). In experience 3. the establishment efficiencies were examined by addition of different concentrations of $\beta$ME(0-1,000 uM) in culture medium. The establishment efficiency was significantly higher in 100 uM $\beta$ME-added group (9.4％) compare to others (0-1.6％). The result of present study shows that the establishment efficiency of clonal cell lines can be enhanced by the culture in media supplemented with 100uM $\beta$ME. However, catalase did not have a positive effect on the establishment efficiency.

• Childhood Kidney Diseases
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• v.11 no.1
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• pp.32-40
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• 2007

Purpose : We performed this study to determine the incidence of acute renal failure(ARF) in birth asphyxia and to correlate the severity of asphyxia and hypoxic-ischemic encephalopathy (HIE) and ARF in asphyxiated neonates. Methods : Data was retrospectively collected from the medical records of 33 patients with neonatal asphyxia and of 33 neonates with no asphyxia. On the basis the 5-minute Apgar score, the asphyxiated neonates were further grouped into mild(6 or 7), moderate(4 or 5), and severe asphyxia(3 or less). Asphyxiated neonates with HIE were staged by the Sarnat and Sarnat scoring system. We compared serum creatinine, blood urea nitrogen, electrolytes, and urine output on day 3 of life and the incidence and severity of intraventricular hemorrhage(IVH) between each group. Results : ARF occurred in 8(24.2%) asphyxiated neonates. Of these, 3(37.5%) were oliguric, while 1(10.0%) patient with mild asphyxia, 2(18.2%) of moderate asphyxia, and 5(41.7%) with of severe asphyxia had ARF(P>0.05). One(25%) patient with stage I HIE, 4(50%) with stage II HIE, and 3(75%) of HIE with stage III HIE developed ARF(P<0.01). There was no statistical correlation between the severity of asphyxia and HIE stage. One(7.7%) patient with grade 1 IVE, 0(0.0%) with grade 2 IVH, 2(66.7%) with grade 3 IVH, and 2(100.0%) with grade 4 IVH had ARF(P<0.01). Mortality was higher in asphyxiated neonates with ARF(P<0.05). There was no significant difference between the oliguric and non-oliguric renal failure. Conclusion : We found that the greater the degree of HIE, the higher was the incidence of ARF. Asphyxiated neonates with ARF had a poorer prognosis.

• The Korean Journal of Nuclear Medicine Technology
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• v.13 no.1
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• pp.93-97
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• 2009

Purpose: Recognize circulation work system and fixing work system's merits and demerits that is enforced in operation of PET/CT center in sudden increase recently. Wish to estimate connectivity degree of individual exposure dose and PET/CT working that is managed periodically through this and look for operation efficiency of PET/CT center. Materials and Methods: (1) Find interrelationship of length of service to be individual exposure dose and PET/CT through TLD interpretation. Specially, evaluate on the basis of data of 2.5 years until 2 quarters 2006~2008 year that show patient increase rapidly the latest. (2) Recognize what countermeasure is evaluating problems happened at circulation work system and fixing work system. Results: Patient examination's number was 14,674 items until 2 quarters 2006~2008 year, and the $^{18}F$-FDG average injection amount was 461.5 MBq. 2 people of 10 radiotechnologist did fixing work PET area and GAMMA area each, and 8 people did circulation work of 3 times for 2.5 years. Average exposure dose that PET area and Gamma area's circulation men in service receive was 1.32 mSv, and PET area men in services came out average 0.825 mSv high than Gamma area men in services. Nurse's exposure dose is 0.28 mSv, and next 2 reason is conjectured. One is contact with patient that medicate $^{18}F$-FDG injection, and another is consultation about patient's next time schedule after examination end. Although exposure dose's amount is not much, is expected to consider continuation work possibility by exposure dose in case is a nurse with pregnancy possibility. Also, $^{131}I$-isotope therapy area's radiotechnologist that use capsule appeared by 0.12 mSv and a nuclear medicine doctor appeared by exposure dose that is less of 0.11 mSv. Conclusions: In case do PET/CT center circulation work after a long time, connoted danger that most men in service is consecutiveness deficiency of business and individual exposure dose increase at early 1 month. Specially, way for individual exposure dose's decrease should be considered. Also, need to evaluate abhorrent work form for efficient work system introduction, and enforce circulation and fixing work suggestion suitable shift working. Finally, must make normalized business guide and so on to prevent circulation work people's business efficiency decline.