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최영중(YJ Choi),최영균(YK Choi),이영혜(YH Lee),한의정(EJ Han) 대한산부인과학회 1977 Obstetrics & Gynecology Science Vol.20 No.1
최근 실질적으로 나타난 선천성 부신피질증식증에 의한 여성반음양을 경험하기에 문헌과함께 보고하는 바이다. Patient. Kim. S.R, was examined together with her younger sister (kim. J.R) because of enlargement of clitoris, fusion of labioscrotal folds and musculine configuration. The child has been brought up as a girl. The patient developed in a way similar to her younger sister. Sex chromatin in oral mucosa smear: positive. Chromosome study: cytogenenetically normal 46/XY, female. Baseline urinary 17 KS was 37.3㎎/24hours. After three day`s treatment with dexamethasone, the output oh 17KS was 4. 55㎎/24 hours. Retroperitoneal pneumogram including tomography revealed to marked enlargement bilateral adrenal gland. Vaginogram showed uterus measured 3×2 ㎝ and distended vagina 6㎝ in length. Two case of female pseudohermaphroditism with virilization delveloped in sisters is presented a brief review of the concerned literatures.
( Do Kang ),( Hs Seo ),( Bg Choi ),( Cw Choi ),( Eunmi Lee ),( Jp Kim ),( Sk Lee ),( Si Lim ),( Sw Kim ),( Jo Na ),( Cu Choi ),( He Lim ),( Jw Kim ),( Ej Kim ),( S-w Rha ),( Cg Park ),( Dj Oh ) 대한내과학회 2013 대한내과학회 추계학술대회 Vol.2013 No.1
Objectives: Statins for the prevention of CVD are known to be as diabetogenic. However most clinical trials suggested that current statin therapy in moderate to high cardiovascular risk should not be changed, due to the outwheighing benefits of statins on CVD prevention. We investigated which clinical variables on treatment are most closely associated with the development of 24 month MACE (all death, any myocardial infarction and target vessel revascularization) in DES implanted patients on statin therapy. Methods: Total 299 patients undergone DES implantation with taking statins for secondary prevention were involved. Tracking the development of MACE within 24 month post-PCI, 12 month follow up clinical variables showing significant correlation to the event were evaluated. To discover whether the changes in clinical parameters over the 12 month follow up are associated with the event development, subtractions from baseline to follow up lab results and absolute value conversion of the subtractions are obtained. Variables showing significant difference between the groups were put into the multivariate analysis and into the survival curve model. Results: Fasting glucose at 12 month were significantly higher in the event group. Subtractions from baseline to 12 month follow up showed no significant differences between the groups, however, absolute change in fasting glucose revealed a significant difference. In multivariate analysis, absolute change in fasting glucose greater than 17 mg/dL/year was strongly associated with the event development. When study population was further divided into four groups by using IQR of absolute change in fasting glucose, greater absolute change during 12 month post-PCI showed a higher risk of 24 month MACE development in both multivariate analysis and survival curve models. Conclusion: The findings suggest that greater absolute change in fasting glucose during 12 month post-PCI is an independent risk factor for 24 month MACE development in DES implanted patients on statin therapy. Relative glucose control impairment described as absolute change in fasting glucose in the current study might be responsible for the development of 24 month MACE.
중합효소연쇄반응을 이용한 한국인 혈우병 A 환자의 유전자내 BclI 및 XbaI RFLP 양상에 관한 연구
최영민,이진용,장윤석,문신용,김정구,신창재,김석현,김은주,최진,황도영,구승엽,안효섭 대한산부인과학회 1994 Obstetrics & Gynecology Science Vol.37 No.12
연구자들은 혈우병 A 환자가 있는 한국인 23가계에서 환자와 그 모친의 혈액을 채취하여 PCR을 이용한 factor VIII 유전자내 BclI과 XbaI 부위의 RFLP양상을 조사하여 한국인 혈우병 A 환자들에 있어서 이들 marker의 유용성을 알아보고자 하였으며 다음과 같은 결과를 얻었다. 1. 23가계를 대상으로 BclI부위의 RFLP향상을 조사한 결과 4가계(17.4%)가 informative 양상을 보였다. 2. XbaI 부위의 RFLP 양상은 23가계중 1가계(4.3%)가 INFORMATIVE 양상을 보였다. XbaI 의 경우 multiple bands를 나타낼 수 있어, 일부 모친에서 해석이 어려운 단점이 있었다. 3. BclI 부위 및 XbaI 부위의 RFLP향상이 함께 informative 였던 가계는 없었으며 BclI부위와 XbaI 부위의 RFLP 양상을 이용하여 23가계중 5가계 (21.7%)에서 informative 양상을 얻을 수 있었다. 이상의 결과 PCR을 이용한 factor VIII 유전자내 BclI RFLP양상분석은 한국인 혈우병 A 환자 및 보인자의 진단에 있어 유용한 방법이며 대상었던 한국인 혈우병 A 환자 약 6명중 1명에서 양성으로 나타남을 시사한다. 반면 XbaI RFLP 양상 분석은 한국인 혈우병 환자에 있어 BclI에 비하여 임상적 유용성이 낮은 것으로 판단된다. 그리고 앞으로 국내 혈우병 A 환자 및 보인자 진단에 도움이 될 factor VIII 유전자내 다른 polymorphism site 의 발견이 요망된다. Hemophilia A is one of the most common inherited bleeding disoders in humans, resulting from thterogenous colletion of mutations in the factor VIII gene. With the molecular clonig of the human gene for factor VIII, intragenic polymorphic DNA sequeces have been described and these sequeces are currently used for accurate identfication of carriers and for prenatal diagnosis, usually by radioactive Southern blot analysis which is costly and labor intensive. The recent development of polymerase chain reaction provides a more rapid and nonradioactive technique for the carrier-detection and prenatal diagnosis. To identify the clinically useful markers that can be used for the carrier-detection and prenatal diagnosis, we analysed the BclI and XbaI intragenic polymorphism of factor VIII gene in 23 Korean patients with hemophilia A and their mothers using polymerase chain reaction(PCR). BclI intragenic polymorphism was informative in 4(17.4%) famlies among 23 families tested, whie XbaI intragenic polymorphism was informative in one (4.3%) family among those familes. In some mothers of the patient, anaylsis of XbaI polymorphism was not possible by digestion because of the background bands that interfere with interpretation. These data indicated that PCR-based analysis of BclI intragenic polymorphism is a clinically useful method for the carrier-detection and for prenatal diagnosis of hemophilia A in Korean patients.
한국인 혈우병 A 가계에 있어 St14 VNTR 부위 DNA Polymorphism 양상 및 이를 이용한 혈우병 A 보인자진단 및 산전진단
최영민,황도영,최진,전종관,서창석,김석현,김정구,문신용,이진용,김은주 대한산부인과학회 1997 Obstetrics & Gynecology Science Vol.40 No.3
At present, because of enormous variety of mutations in hemophilia A, carrier detection and prenatal diagnosis by DNA analysis has been relied almost always on indirect detection using linkage analysis of DNA polymorphisms withim or near to the factor VIII gene. However, there is marked ethnic variation in the incidence of heterozygosity for a given DNA polymorphism. So it is very important to find out which DNA polymorphism pattern is useful in Korean families with hemophilia A for carrier detection and prenatal diagnosis. To identify the usefulness of DNA polymorphism in St14 VNTR locus for carrier detection and prenatal diagnosis of hemophilia A in Korean populations, we have analysed the DNA polymorphism in St14 VNTR locus in 80 Korean families with hemophilia A using polymerase chain reaction. We could identify 14 alleles in subjects studied, which ranges from 620 bp to 2830 bp. Expected heterozygosity rate, calculated from the allele frequencies, was 78.7%, and observed heterozygosity rate was 71.3% (57/80). Carrier detection was performed in 43 women from families informative with St14 VNTR : Seventeen women were diagnosed as non-carriers, 11 women as carriers. And 15 women were suspected to be carriers since they were from families of sporadic cases of hemophilia A. And prenatal diagnosis was done in 4 pregnant carrier women : noe fetus proved to be normal males, two fetuses to be normal females, and one to be a carrier. And five pregnant women, suspected to be carrier since they were from families of sporadic cases of hemophilia A, underwent prenatal diagnosis : One fetus was diagnosed as a normal mali, one as a normal female, two as possible carriers, and one as a possible affeted mali, whom the analysis of factor VIII level in fetal blood by cordocentesis revealed to be affected by hemophilia A. These data indicate that PCR-based analysis of St14 VNTR is very useful for the carrier detection and prenatal diagnosis of hemophilia A in Korea.
박은정(EJ Park),최종길(JK Choi),김상일(SI Kim),김원희(WW Kim) 대한산부인과학회 1983 Obstetrics & Gynecology Science Vol.26 No.3
최근 본원에서 경험한 생존 출산아와 공존된 부분 기태 1예를 이에 대한 간단한 문헌고찰과 아울러 보고하는 바이다. Authors recently have met a rare case of mole-fetus syndrome to reprot it as well as a brief review of literatures concerning to its pathology, diagnosis and management. Also included is the differential diagnosis of the patient who has hydatidiform mole with coexistent live fetus.