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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
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.
한혜경 이화여자대학교 이화어문학회 2001 이화어문논집 Vol.19 No.-
Nowadays, we are confronted with my changes in literature, according to outstanding changes in science and traditional life. So many young writers are trying to show new style and theme to readers who wants new, interesting, and sensual stories. Kim, Young-Ha, one of them, thinks a novel has to give pleasures to readers instead of a lesson and impression. So he focuses on the sensibility and desire which has formed an important factor in past capitalist society. The aim of this research is to find the characteristics and new trends of Kim, Young-Ha's novels through critical reading of his novels. First of all, he pays attention to falsity in reproducing the images. secondly, he describes the characters who want to stay in a dark small room. Their attitude to society is cynical but they want to communicate with other person. And they have a desire to violate the taboo, and the pleasure helps them to violate the taboo. Finally, it is necessary for his characters to be in deeper agony and to go outside bravely.