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다운증후군의 산전진단을 위한 다양한 선별검사의 기여율 비교 - 산전 및 신생아때 진단된 96 례 분석 -
한정열(J . Y . Han),김문영(Y. M . Kim),조준형(J . H . Cho),안현경(H . K . Ahn),류현미(H . M . Ryu),김진미(J . M . Kim),김영미(Y . M . Kim),박소연(S . Y . Park),한혜경(H . K . Han),이영호(Y . H . Lee),양재혁(J . H . Yang) 대한산부인과학회 2000 Obstetrics & Gynecology Science Vol.43 No.10
연구의 목적은 다운증후군을 산전진단하기 위한 다양한 산전선별검사 (나이; 35세 이상, 임산부 혈청 marker를 이용한 triple test, 초음파; 비정상 소견, 후경부 투명대 (nuchal translucency), 후경부두께 (nuchal fold thickness))의 기여율를 비교하기 위한 것이다. 1990년 1월부터 1999년 9월까지 본원에서 산전 및 산후에 진단된 례는 총 96례 이었다. 산전 및 신생아기에 진단된 다운증후군의 빈도는 각각 68례 (71 %), 28례 (29 %)였다. 다운증후군 태아를 임신했던 임산부의 평균연령은 33±5.7세이다. 다운증후군의 1,000분만당 연도별 빈도율은 1990년부터 1999년까지 각각 0.4, 1.3, 0.7, 0.7, 1.6, 0.7, 1.2, 2.2, 2.0, 그리고 2.3 (Y=0.28±0.18 year, P=0.01)이었다. 산전진단된 다운증후군의 비율 (%)은 지난 10년간 각각 0 (0/2), 43 (3/7), 50 (2/4), 25 (1/4), 56 (5/9), 100 (5/5), 71 (5/7), 78 (14/18), 78 (14/18), 그리고 89 (17/19) (Y=12.9±8.9 year, P=0.000) 이었다. 다운증후군을 산전진단하기 위한 다양한 산전선별 검사에 따른 기여율은 35세이상의 연령에 의하면 30.2±5.6 %, triple test의 경우 18.2±3.4 %, 초음파에 의한 경우 51.7±6.3 % 이며, 초음파에 의한 산전 선별 검사가 통계적으로 유의하게 연령이나 triple test에 의한 경우 보다 다운증후군의 산전진단에 기여율이 높았다. (P=0.008) 결론적으로 본 연구에 의하면 지난 10년 동안 다운증후군을 산전 진단하기 위한 여러 선별 검사방법의 적용은 효율적이었으며, 특히 초음파에서 다양한 소견을 이용한 다운증후군의 산전선별검사는 연령이나 triple test 보다는 더욱더 의미가 있다고 추론된다. Objective : The purpose of this study was comparison of the contribution rate for prenatal diagnosis of Down syndrome using various screening methods (Age: greater than or equal to 35 years old, Serum markers: Triple test, Ultrasonography: abnormal sonographic findings, nuchal translucency, nuchal fold thickness).Methods : Total 96 cases of Down syndrome, prenatally or postnatally diagnosed between Jan. 1990 and Sept. 1999, made up the study population. We got the contribution rate of various prenatal screening methods of down syndrome, and obtained the efficiency of various screening program applied for last 10 years. Results : The frequencies of Down syndrome confirmed in prenatal and postnatal were 68 (71%) and 28 (29%) in respectively. The mean age of mother of Down syndrome fetus was 33.0±5.7 years old. The frequency rate of Down syndrome was 0.4, 1.3, 0.7, 0.7, 1.6, 0.7, 1.2, 2.2, 2.0 and 2.3 a 1,000 deliveries from 1990 to 1999 (Y= 0.28+0.18 year, P=0.01). The percentage of Down syndrome diagnosed prenatally was 0 (0/2), 43 (3/7), 50 (2/4), 25 (1/4), 56 (5/9), 100 (5/5), 71 (5/7), 78 (14/18), 78 (14/18) and 89 (17/19) from 1990 to 1999 (Y= 12.9+8.9 year, P=0.000). The contribution rate of prenatal diagnosis for Down syndrome was 30.2±5.6% by age, 18.2±3.4% by triple test and 51.7±6.3% by ultrasonography, and was significantly difference among each screen methods (P=0.008). Conclusions : This study shows that our prenatal screening program is highly effective to detect Down syndrome and especially ultrasonographic findings (abnormal sono findings, Nuchal translucency, Nuchal fold thickness) may be more important than that of age or Triple test to detect the Down syndrome prenatally.
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정상 및 임신성 당뇨병 임신부의 임신 중 체중 증가량와 신생아 체중
김문영(Moon Young Kim),양재혁(Jae Hyug Yang),장학철(Hak Chul Jang),박정은(Jung Eun Park),임창훈(Chang Hoon Yim),정호연(Ho Yeun Chung),한기옥(Ki Ok Han),윤현구(Hyun Koo Yoon),한인권(In Kwon Han),김미정(Mi Jeong Kim),한혜경(Hye Kyung H 대한산부인과학회 2001 Obstetrics & Gynecology Science Vol.44 No.4
N/A Objective : The purpose of this study was to determine the independent factors that predict neonatal birthweight and find the relationship between maternal weight gain and neonatal birthweight in women with normal glucose tolerance (NGT) and gestational diabetes mellitus (GDM). Methods : Forty-six women with GDM and one hundred fifty women with NGT were included in the study. All subjects had singleton pregnancies and no medical diseases that may affect the fetal growth and were certain of gestational age by early ultrasonography. Maternal weight at each prenatal visit was recorded and neonatal anthropometic measurement was done within 2 days of birth. Results : The average rate of weight gain (kg/week) in NGT was lowest during the first trimester (0.09±0.10), peaked during the second trimester (0.52±0.14), and slowed after 34 gestational weeks (0.46±0.26). In women with GDM, the average rate of weight gain was also lowest during the first trimester (0.18±0.23), but it was twofold higher compared with women with NGT. There was a significant decrease of the rate of weight gain after 28 gestational weeks in women with GDM. Total weight gain during pregnancy was 3.4 kg less in women with GDM. Neonatal birthweight was correlated with maternal weight gain and the rate of weight gain during 14-27 and 28-33 weeks in NGT. However, birthweight was correlated with maternal weight gain and the rate of weight gain during the first trimester and 14-27 weeks in GDM. Conclusion : This result suggests that the women with GDM who have greater weight gain during the first and the second trimester have a increased risk of excessive fetal growth. Thus strict glycemic control during pregnancy is needed especially in these women.
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선천성 근긴장성 이영양증의 임상진단 및 분자생물학적 진단 1 예
김연주(Yon Ju Kim),김문영(Moon Young Kim),이봄이(Bom Yi Lee),김진우(Jin Woo Kim),박소연(So Yeon Park),김지은(Ji Eun Kim),오동출(Dong Chul Oh),한혜경(Hae Kyoung Han),김미정(Mi Jung Kim),전이경(Yi Kyeong Chun),김혜선(Hye Sun Kim),류현미(H 대한산부인과학회 2001 Obstetrics & Gynecology Science Vol.44 No.12
N/A Congenital myotonic dystrophy is a severe and early-onset form of myotonic dystrophy (DM) with a prevalence of 2.5-5.5/100,000 live births. Expansion of the trinucleotide CTG repeat in the 3´ untranslated region of the DM gene, which is located at a chromosome 19q13.3 is a common mutation in DM. Clinical features are generalized hypotonia (floppy infant), respiratory and feeding difficulty, and the neonatal mortality rate is approximately 40%. We experienced a case of recurrent congenital myotonic dystrophy, and report with a review of related literatures. Women with recurrent neonatal hypotonia or ultrasonographic evidence of hypotonia, including positional abnormalities of the extremities and idiopathic polyhydramnios, should be offered testing for the genetic studies for myotonic mutation, such as PCR (Polymerase chain reaction) analysis and Southern blot analysis.
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