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미배양 태아제대혈액세포에서의 염색체이상 확인을 위한 FISH 의 이용
최영민,최영민(Young Min Choi),장은주(Eun Ju Chang),전종관(Jong Kwan Jun),황도영(Do Yeong Hwang),정경순(Kyung Soon Cheong),김기철(Ki Chul Kim),민응기(Eung Gi Min),최진(Jin Choe),문신용(Shin Yong Moon) 대한산부인과학회 2000 Obstetrics & Gynecology Science Vol.43 No.3
Objective: To determine the fetal aneuploidy in fetal blood cells from cordocentesis. Methods: We analyzed their karyotype and performed fluorescence in situ hybridization(FISH) for chromosome 18, 21, X, and Y in 14 cases of fetal blood cells from cordocentesis at Department of Obstetrics & Gynecology, College of Medicine, Seoul National University and Hamchoon Women's Clinic. Results: In all cases we obtained the consistent results in both methods and were able to rapidly detect aneuploidy in uncultured fetal blood cells using FISH before karyotyping with culture for 48 hr. The averages for accuracy of FISH were from 84.6 % to 93.9%. Conclusion: In this study we suggest that the rapid detection in uncultured fetal blood using FISH is possible and that this diagnostic method will be clinically useful when rapid result would be demanded.
최영민(Young Min Choi),지병철(Byung Chul Jee),최진(Jin Choe),오선경(Sun Kyung Oh),황도영(Do Yeong Hwang),서창석(Chang Suk Suh),김석현(Seok Hyun Kim),김정구(Jung Gu Kim),문신용(Shin Yong Moon),이용희(Yong Hee Lee),이진용(Jin Yong Lee 대한산부인과학회 2000 Obstetrics & Gynecology Science Vol.43 No.2
Objective: To identify cytogenetic diversity of Turner syndrome, and its correlation with clinical manifestation including fertility. Method: From 1986 to 1996, we reviewed medical records of 137 patients, cytogenetically and clinically diagnosed as Turner syndrome. Cytogenetic study was performed using peripheral lymphocytes with GTG banding. Marker chromosomes were re-evaluated by quinacrine staining. Results: Overall incidence of mosaic pattern was 57.7% in Turner syndrome, showing 45,X line combined with structural anomalies of X chromosome(n=39), marker chromosome(n=22), numerical abnormalities of sex chromosome(n=6), and 46,XX(n=5). With comparison of clinical manifestation in 45,X/46,XX(n=5) and four most common pattern, 45,X(n=42), 45,X/46,X,i(Xq)(n=26), 45,X/46,X,+mar(n=22), 46,X,i(Xq)(n=9), there was no significant differences statistically, except short stature and diabetes. Incidence of short stature was significantly higher in 45,X or 46,X,i(Xq) than 45,X/46,XX(78.6%, 88.9%, 20.0%), and significant difference existed in incidence of diabetes between 45,X and 46,X,i(Xq)(0%, 22.2%). Sixteen patients had a history of marriage, but only one had a history of spontaneous conception and delivery with mosaic 45,X[2]/51,XXXXXXX[1]/46,XX[47]. Conclusion: The karyotypes of Turner syndrome was very variable, and about 60% had mosaicism. Patients with 45,X/46,XX had a significant lower incidence of short stature than in 45,X or 46,X,i(Xq), and 46,X,i(Xq) had a significant higher incidence of diabetes than in 45,X. We identified a woman with mosaic 45,X/51,XXXXXXX/46,XX was fertile.
최영민(Young Min Choi),황규리(Kyu Ri Hwang),정현훈(Hyun Hoon Chung),서창석(Chang Suk Suh),김석현(Seok Hyun Kim),김정구(Jung Gu Kim),문신용(Shin Yong Moon),이진용(Jin Yong Lee) 대한산부인과학회 2002 Obstetrics & Gynecology Science Vol.45 No.10
Testicular regression syndrome is representative of a clinical range of 46,XY agonadal persons, in which the testes of the victim`s are irreparably damaged at a critical stage in fetal development. The critical stage of testicular regression syndrome is represented by a range of abnormalities of genital development. Recently, we experienced a case of early fetal testicular regression syndrome with no definite gonad and a cloacal anomaly associated with imperforate anus, so we present it with brief review of literature.
불임환자에 있어 과배란유도후 자궁강내 인공수정술시 임신율
최영민(Young Min Choi),이지영(Ji Young Lee),구승엽(Seung Yup Ku),서창석(Chang Suk Suh),김석현(Seok Hyun Kim),김정구(Jung Gu Kim),문신용(Shin Yong Moon),이진용(Jin Yong Lee) 대한산부인과학회 1999 Obstetrics & Gynecology Science Vol.42 No.12
Objectives: To investigate the efficiency of superovulation with intrauterine insemination (IUI) in infertile patients. Materials and methods: Seventy-two cycles of superovulation with IUI in 48 infertile couples in which gonadotrophins were used for hyperstimulation were analysed retrospectively. Results: Overall clinical pregnancy rate was 33.3% per cycle and 45.8% per patient. By the infertility factor, patients with endometriosis showed the lowest pregnancy rate (10%). Cumulative pregnancy rate (CPR), obtained by life-table analysis, increased as the number of cycles increased: 25.0% for one cycle, 33.3% for two cycle, 40% for three cycle and 50% for more than four cycle. Conclusions: Superovulation with IUI is an effective treatment modality in patients with subfecundity, and is worth while trying prior to in vitro fertilization procedure in those patients.
불임인 자궁내막증 환자의 수술적 복강경 수술 후 임신율
최영민(Young Min Choi),서영석(Young Suk Seo),구승엽(Seung Yup Ku),서창석(Chang Suk Suh),김석현(Seok Hyun Kim),김정구(Jung Gu Kim),문신용(Shin Yong Moon),이진용(Jin Yong Lee) 대한산부인과학회 1999 Obstetrics & Gynecology Science Vol.42 No.11
Objective: To investigate the influence of laparoscopic surgery on the pregnancy rate of infertile women with endometriosis. Materials & Methods: Retrospective analysis was performed in 33 infertile patients with endometriosis and infertility who had operative laparoscopy at Seoul National University Hospital from January 1991 to February 1998. We investigated the pregnancy rate during the 12 months following conservative laparoscopic surgery. Results: The overall rate of spontaneous intrauterine pregnancy rate (IUP) during the 12 months was 48.5% (16/33). Most of spontaneous pregnancy occurred during the 3 months after surgery (12/16). There was no correlation between spontaneous pregnancy rate and the revised American Fertility Society (rAFS) classification or laparoscopic findings. The rate of IUP was 50% (7/14) for patients with stage I or II endometriosis and 47.4% (9/19) for the patients presenting stage III or IV endometriosis. Conclusion: Conservative laparoscopic surgery may be an effective treatment for infertile patients with endometriosis and most of spontaneous pregnancy occurred during the 3 months after surgery .
정상염색체 핵형 및 조기난소부전증를 가진 한국여성에서 난포자극호르몬 수용체의 유전자변이에 관한 연구
최영민(Young Min Choi),김석현(Seok Hyun Kim),김정구(Jeong Koo Kim),문신용(Shin Yong Moon),이진용(Jin Yong Lee),이규화(Gue Wha Lee) 대한산부인과학회 2000 Obstetrics & Gynecology Science Vol.43 No.5
Objective : To determine whether the follicle stimulating hormone(FSH) receptor gene mutation (C566T point mutation) is present in Korean women with premature ovarian failure and normal karyotype. Methods : Genomic deoxyribonucleic acid(DNA) obtained from 40 patients with chromosomally competent premature ovarian failure and from 30 normal fertile women(control group) was amplified by polymerase chain reaction(PCR). PCR products were digested by the enzyme BsmI and polyacrylamide gel(PAG) elctrophoretic patterns of these enzyme-digested products were analyzed. The direct sequencing of PCR products was also performed. Results : All patients with premature ovarian failure and 30 normal control women demonstrated homozygous, normal alleles with 51- and 27- base pairs fragments in PAG elctrophoresis. The absence of C566T point mutation in both group was confirmed by direct DNA sequencing. Conclusions : A C566T mutation in FSH receptor gene is rare in Korean women with premature ovarian failure and normal karyotype.
폐경후 여성에서 여성호르몬 대체요법시 자궁내막 두께의 변화
최영민(Young Min Choi),김은경(Eun Kyong Kim),구승엽(Seung Yup Ku),서창석(Chang Suk Suh),김석현(Seok Hyun Kim),김정구(Jung Gu Kim),문신용(Shin Yong Moon),이용희(Yong Hee Lee),이진용(Jin Yong Lee) 대한산부인과학회 2000 Obstetrics & Gynecology Science Vol.43 No.4
Objective: The purpose of this study was to evaluate the effect of hormone replacement therapy on endometrial thickness in postmenopausal women and to assess the difference in endometrial thickness by the type of hormone replacement therapy (HRT). Materials & Methods: Endometrial thickness was measured in 258 postmenopausal women before and/or during 12 months of HRT. The subjects were grouped into the sequential therapy group (Group 1, 72 women) and continuous combined therapy group (Group 2, 186 women). Group 1 received 0.625 mg of conjugate equine estrogen (CEE) daily with cyclic addition of medroxyprogesterone acetate (MPA, 10 mg/day for 12 days per month). Group 2 received 0.625 mg of CEE with daily addition of MPA (2.5 mg/day). Results: The sequential group showed no significant change in endometrial thickness during HRT compared to that before HRT. However, a significant increase in endometrial thickness was found in the continuous combined group at 12 months of treatment. Before HRT, the endometrial thickness in the continuous combined group was thinner than that of the sequential group. During 12 months of treatment, there was no difference in endometrial thickness between the types of HRT. And the proportion of patients with endometrial thickness of 8mm or greater at 12 months of treatment did not differ significantly from that before treatment in both groups. Conclusion: Sequential HRT did not influence the endometrial thickness during treatment. However, continuous combined HRT increased the endometrial thickness during 12 months of treatment compared to that before treatment. The different endometrial responses to each HRT regimen may be due to the difference in endometrial thickness before treatment in each group.
최영민(Young Min Choi),최진(Jin Choe),황도영(Do Yeong Hwang),박성효(Sung Hyo Park),전종관(Jong Kwan Jun),구승엽(Seung Yup Ku),서창석(Chang Suk Suh),김석현(Seok Hyun Kim),김정구(Jeong Koo Kim),문신용(Shin Yong Moon),이진용(Jin Yong L 대한산부인과학회 2000 Obstetrics & Gynecology Science Vol.43 No.5
We have undertaken this study to identify the usefulness of two variable dinucleotide tandem repeats within the factor Ⅷ gene for carrier detection and prenatal diagnosis of hemophilia A in the Korean population. We have analyzed these polymorphisms in 50 unrelated Korean mothers of patients with severe hemophilia A, using polymerase chain reaction. The expected heterozygosity rates of the intron 13 and intron 22 dinucleotide repeats were 56% and 40%, respectively. Analysis of the intron 13 and intron 22 dinucleotide repeats revealed heterozygous patterns in 29(58%) and 17(34%) of 50 mothers studied, respectively. The combined overall informativity of the intron 13 and intron 22 dinucleotide repeats was 68%. Using linkage analysis with the intron 13 dinucleotide repeats, we have attempted three cases of carrier detection and two cases of prenatal diagnosis in two families of patients with severe hemophilia A. Two pregnant women were diagnosed as carriers, and the other patients as non-carrier Prenatal diagnosis revealed an unaffected male in one fetus, and an unaffected female in another fetus. This data demonstrated that the analysis of the intron 13 and intron 22 dinucleotide repeats very useful in the carrier detection and prenatal diagnosis of hemophilia A in the Korean population.
미배양 양수세포에서 다운증후군과 에드워드증후군의 확인을 위한 FISH의 이용
문신용(Shin Yong Moon),최진(Jin Choi),황도영(Do Yeong Hwang),최영민(Young Min Choi),장은주(Eun Ju Chang),정경순(Kyung Soon Cheong),김기철(Ki Chul Kim),민응기(Eung Gi Min),이진용(Jin Yong Lee) 대한산부인과학회 1998 Obstetrics & Gynecology Science Vol.41 No.11
FISH is suggested as a possible method to detect the numerical and structural abnormalities of chromosomes in interphase nucleus. We performed this study to discuss the clinical usefulness of FISH in uncultured amniocytes and to set up the cut-off value for further study. We collected amniotic fluid samples from patients whose chromosome studies were recommended due to screen positive for Down and Edword syndrome in triple marker test using maternal serum. The centromeric probe for chromosome 18 and the locus-specific probe for chromosome 21 were used and the results were compared to their karyotypes. We could find 2 cases of trisony 21 and 2 cases of trisony 18 and the other cases represented normal karyotypes. The accuracies were 91% for disomy 18, 89% for trisomy 18, 92% for disomy 21 and 88% for trisomy 21. Therefore FISH technique is a possible method to detect the chromosomal abnormalities in uncultured amniocytes and the use of locus-specific probe for chromosome 21 would be more useful for detecting the aneuploidy of chromosome 21 than 13/21 centromeric probe.