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착상전 유전질환진단의 임신성공 1 례 ; 염색체 전좌보인자 배아의 착상전진단을 거친 임신성공
이숙환(SH Lee),이혜경(HK Lee),김언경(UK Kim),박성은(SE Park),엄기붕(KB Oum),고정재(JJ Ko),차광열(KY Cha) 대한산부인과학회 1996 Obstetrics & Gynecology Science Vol.39 No.3
Fluorescent detection of insitu hypridization(FISH) with whole chromosome painting probe(chromosome 2 and 6) has used to assess the use of this method for preimplatation diagnosis of the carrier of a balanced traslocation t(2;6)(p13;p21) which has repeatedly led to spontaneous abortions. Interphase nuclei have been analyzed and four embryos with 2 green/red signals each for the chromosome 2 and 6 were transferred and a pregnancy resulted.
다중중합효소연쇄반응과 써던 블롯팅을 이용한 근이영양증 ( DMD ) 의 진단
이숙환(SH Lee),한정희(JH Han),곽인평(IP Kwak),차광은(KE Cha),조성원(SW Cho),한세열(SY Han),김남근(NK Kim),박찬(C Park),차광열(KY Cha) 대한산부인과학회 1997 Obstetrics & Gynecology Science Vol.40 No.5
Duchene and Becker muscular dystrophy(DMD/BMD) results from mutations in the dystrophin gene, and enormous genetic locus that spans more than two million base paris of DNA on the human X chromosome. Some 60% of DMD patients exhibit deletions, which can be found by cDNA hybridization or, were recently, by polymerase chain reaction analysis. We have used the multiplex PCR to identify deletion mutations in the human dystrophin gene. By simultaneously amplifying genomic regions flanking 17 sepastrate exons in mutational hot spots, we were able to detect 16 exons in one family. The DNA encoding each of the 17 exons in the dystrophin gene is copied a million fold to make it visible in an agarose gel. To be certain that the missing band is not artifact of the amplification procedure, the DNA from the blood sample was analyzed by Southern hybridization.
이숙환(SH Lee),김언경(UK Kim),곽인평(IP Kwak),김종욱(JW Kim),이우식(WS Lee),김승보(SB Kim),차광열(KY Cha) 대한산부인과학회 1995 Obstetrics & Gynecology Science Vol.38 No.12
Background : The fragile X syndrome, the most common form of inherited mental retardation, is caused by mutations that increase the size of a specific DNA fragment of the X chromosome(Xq 27.3). In Korea, we don`t have molecular study analysis about the fragile X syndrome which never fount geographic, racial or ethnic clustering of this syndrome. We have analyzed fragile X syndrome in terms of molecular method. Patients and Methods : Ninety-four patients who were referred to Human Genetics Center of Cha General Hospital under the tentative impression of fragile X syndrome were studied using mutation analysis with Southern blotting and polymerase chain reaction (PCR). Mutations and abnormal methylation were detected by Southern blotting with a probe adjacent to the mutation target. Their size of the repeat region was also determined by a second method, polymerase chain reaction(PCR). The DNA in this region was amplified by the PCR and the size of the amplification products were determined. Result : DNA analysis unambiguously established the genetic status at the fragile X locus for all samples test. 8 in 94 patients(8.5%) were affected and 9 in 94 patients (9.6%) were carrier status. Conclusion : Southern blotting was more powerful and reliabla than cytogenetic testing or segregation studies with colsely linked polymorphic markers. PCR may help to analyze the size of the repeat region which led to determine the status of some carriers and normal individuals. The discrete bands in affected and carrier status detected by PCR were not always seen on the direct analysis. Therefore, caution should be exercised in interpreting PCR results alone for diagnosis of affected and some carrier individuals. we suggest that if altered allele are detected by PCR, confirmatory direct genomic Southern analysis sould be offered.
이정노(JN Lee),이용원(YW Lee),전혜선(HS Jeon),이숙환(SH Lee),김경률(KL Kim),차광은(KE Cha),백진영(JY Baek) 대한산부인과학회 1997 Obstetrics & Gynecology Science Vol.40 No.4
Maternal serum alpha-feto protein(MSAFP) screening test has provided high sensitivity and specificity in detecting neural tube defects(NTD). Approximately 80~90% of NTD can be identified by this screening test. Prospective studies have shown that low levels of MSAFP can be used for Down syndrome screening test, but the detection rate for Down syndrome in combination with age is only 20% in younger women, making this screening test relatively insensitive. However recently some studies have suggested that the triple marker test with MSAFP, unconjugated estriol, β-human chorionic gonadotropin achieved higher detection rate for Down syndrome.The purpose of present study is to compare the positive predictive values of both MSAFP and Triple test. We had 6,436 cases of MSAFP test during the year of 1994 and 7,077 cases for triple test during the year of 1995. We analyzed data with positive results by screening both tests, since our purpose is to compare positive value. The number of positive results were 290(triple test) and 206(AFP) respectively.With this study, we concluded that positive predictive value of triple marker test is 4.17 times greater than of the MSAP test.
이정일(JI Lee),주괄(K Ju),김만성(MS Kim),황호연(HY Hwang),황익하(IH Whang),이숙환(SH Lee) 대한산부인과학회 1982 Obstetrics & Gynecology Science Vol.25 No.4
위장에서 발생한 것으로 사료되는 1례로 난소뿐 아니라, 피부에까지 전이된 비교적 희귀한 양측성인 전이성 종양을 경험하였기에 보고하고 간단한 문헌적 고찰을 하였다. A extremely rare case of Krukenbergs tumor in ovary being probably primary site in the stomach, which metastatic to the skin. The patient were 49 years old woman living now after surgery, and here we represent case report and review of literatures was made being briefly.
임신과 조기난소부전을 경험한 45 , X/47 , XXX 터너 증후군 1 예
남윤성(YS Nam),이숙환(SH Lee),곽인평(IP Kwak),윤태기(TK Yoon),차광열(KY Cha) 대한산부인과학회 1998 Obstetrics & Gynecology Science Vol.41 No.7
Sex chromosome monosomy occurs as monosomy X or Turner syndrome (45,X). Monosomy X is prenatally lethal in most cases, occuring in many cytogenetically abnormal spontaneous abortions. The incidence of monosomy X does not appear to be associated with increased maternal age. It is usually the paternal sex chromosome that is absent, suggesting that nondisjunction in the spermatogonium may be the underlying mechanism in the majority of cases. Monosomy Y is never observed; presumably, the presence of at leats one X chromosome is required for early embryonic development. Females with one extra X chromosome (47,XXX) may be indistinguishable from those with a normal 46,XX karyotype, although decreased fertility and an increased risk for nondisjunction may lead to reproduction problems. Females with more than three X chromosomes (48,XXXX; 49,XXXXX) have an increased incidence of physical abnormalities that may be apparent at birth, and they exhibit varying degrees of mental retardation. We have experienced a case of Turner syndrome which has experienced pregnancy and premature ovarian failure. So we report this case with a brief review of literatures.
남윤성(YS Nam),이숙환(SH Lee),곽인평(IP Kwak),윤태기(TK Yoon),차광열(KY Cha) 대한산부인과학회 1998 Obstetrics & Gynecology Science Vol.41 No.6
Secondary amenorrhea is usually defined as the absence of menses for at least 6 months in a woman who previously had been having regular menses, or the absence of menses for 12 months in a patient with a history of oligomenorrhea. Before the differential diagnosis of these patients is considered, thyroid disease, diabetes mellitus, and normal or abnormal pregnancies should be ruled out. After a careful physical examination, the patient can be placed in one of the following categories: those with no clinical findings of galactorrhea or excess of cortisol or androgen, those with galactorrhea, or those with clinical signs of possible cortisol excess (Cushing`s syndrome) and/or androgen excess. Women with amenorrhea and no clinical evidence of cortisol excess, androgen excess, or galactorrhea have either an abnormality in the hypothalamic-pituitary-ovarian axis or endometrial obliteration (Asherman`s syndrome). We have experienced a case of secondary amenorrhea associated with pituitary tumor suspicious of growth hormone-secreting pituitary adenoma. So we report this case with a brief review of literatures.
남윤성(YS Nam),이숙환(SH Lee),곽인평(IP Kwak),윤태기(TK Yoon),차광열(KY Cha) 대한산부인과학회 1998 Obstetrics & Gynecology Science Vol.41 No.4
Five to ten percent of women with acute pelvic inflammatory disease develop symptoms of perihepatic inflammation --- the Fitz-Hugh-Curtis syndrome. The condition is often mistakenly diagnosed as either pneumonia or acute cholecystitis. Persistent symptoms and signs include right upper quadrant pain, pleuritic pain, and tenderness in the right upper quadrant when the liver is palpated. Liver transaminases may be elevated. Fitz-Hugh-Curtis syndrome develops from transperitoneal or vascular dissemination of either the gonococcus or chlamydia organism to produce the perihepatic inflammation. Currently, chlamydia produces the majority of cases. Other organisms, including anaerobic streptococci and coxsackievirus, have also been associated with this syndrome. Laparoscopy may be useful in the diagnosis of this syndrome. The liver capsule will appear inflamed with classic violin string adhesions to the parietal peritoneum beneath the diaphragm. Treatment is the same as the treatment for salpingitis. We have experienced a case of Fitz-Hugh-Curtis syndrome associated with hydrosalpinx and succeeded in pregnancy using in vitro fertilization. So we report this case with a brief review of literatures.
남윤성(YS Nam),이숙환(SH Lee),곽인평(IP Kwak),윤태기(TK Yoon),차광열(KY Cha) 대한산부인과학회 1998 Obstetrics & Gynecology Science Vol.41 No.4
Premature ovarian failure is a condition causing amenorrhea, hypoestrogenism, and elevated gonadotropins in women younger than 40 years. Although chromosomal and genetic abnormalities, enzymatic defects and iatrogenic agents, including cytotoxic drugs, pelvic irradiation and ovariectomy, have been cited as causes of premature ovarian failure, the most common cause is autoimmuity. We have experienced a case of premature ovarian failure associated with myasthenia gravis. So we report this case with a brief review of literatures.
성공적으로 임신한 late-onset adrenal hyperplasia 1 예
남윤성(YS Nam),이숙환(SH Lee),곽인평(IP Kwak),윤태기(TK Yoon),차광열(KY Cha) 대한산부인과학회 1998 Obstetrics & Gynecology Science Vol.41 No.3
Adrenal enzyme deficiencies causing hyperandrogenic symptoms some time after birth have been alternatively called late onset, nonclassical, postpubertal, attenuated, mild, or acquired. Patients previously thought to suffer from the polycystic ovary syndrome(PCOS) and related hyperandrogenic disorders are now being diagnosed as having this genetic disease. By definition, late-onset adrenal hyperplasia is an autosomal recessive disorder causing symptoms in peri-or postpuberty, and all patients demonstrates a normal female external genitalia. We have experienced a case of late-onset adrenal hyperplasia and succeeded in pregnancy. So we report this case with a brief review of literatures.