• Title/Summary/Keyword: Edwards syndrome

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Assessment of Chromosomal Analyses of 1,180 Cases Suspected of Chromosomal Aberrations (염색체이상을 의심한 1,180례의 염색체 분석 결과 검토)

  • Jeong, Hyeon Kyoung;Ahn, Eun Young;Rim, Sung Soo;Kim, Eun Young;Kim, Kyoung Sim;Kim, Yong Wook;Kim, Ki Bok
    • Clinical and Experimental Pediatrics
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    • v.45 no.3
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    • pp.311-319
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    • 2002
  • Purpose : We have performed this study to obtain reference data for the distribution of chromosomal aberrations in Korea. Methods : We analyzed 1,180 chromosomal study cases from Kwang ju Christian Hospital during the past 25 years. 756 cases suspected of characteristic chromosomal aberration syndromes and 424 cases with hermaphroditism, mild sexual abnormalities, multiple anomalies, or mental & growth retardation were included. Results : The male to female ratio of autosomal aberration syndromes was 1.2 : 1. 78.6% of autosomal aberrations were diagnosed under 1 year of age, whereas 89.8% of sex chromosomal aberrations were diagnosed over 12 years of age. Among 1,180 cases, 612 ones had chromosomal aberrations(51.9%) : 590 of 756 cases suspected of chromosomal aberration syndromes had aberrations( 78.0%), whereas 22 of 424 showing the above other features had aberrations(5.2%). Autosomal aberrations appeared in 514 cases(83.8%) and sex chromosomal aberrations appeared in 98 cases(16.2%). The most frequently observed abberation in autosomal aberrations was Down syndrome, followed by E, D, B, A and C group aberrations. The most common abberation in sex chromosomal aberrations was Turner syndrome, followed by Klinefelter syndrome and Fragile X syndrome. Conclusion : It is of vital importance that patients suspected of chromosomal aberrations undergo chromosomal analysis. Further advanced chromosomal staining and molecular genetic methods will raise the detection rate of chromosomal aberrations.

Mid-Term Results of Mitral Valve Repair Using a Partial Flexible Band and a Completely Rigid Ring in Patients with Degenerative Mitral Regurgitation (퇴행성 승모판막역류 환자에서 Partial Flexible Band와 Complete Rigid Ring을 이용한 승모판막 성형술의 중기 결과 비교)

  • Kim, Kyung-Hwan;Ahn, Hyuk;Hwang, Ho-Young;Choi, Jin-Ho;Kim, Ki-Bong
    • Journal of Chest Surgery
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    • v.43 no.5
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    • pp.475-481
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    • 2010
  • Background: We evaluated mid-term results of mitral annuloplasty using a flexible band and a completely rigid ring for mitral valve repair in patients with degenerative mitral regurgitation (MR). Material and Method: From January 2004 to September 2008, 71 patients (M:F=36:35, $55{\pm}13$ years) underwent mitral valve repair with mitral annuloplasty for degenerative MR. Ring annuloplasty was done using a Cosgrove-Edwards flexible band (Group I, n=43) or a Carpentier-Edwards classic ring (Group II, n=28). There were no differences in preoperative characteristics of the participants. Average duration of follow-up was 36 months (range: 2~69 mos). Result: There was no in-hospital mortality. Postoperative morbidity, which included atrial fibrillation (n=7) and low cardiac output syndrome (n=5) in groups I and II were similar. There was one late death in group II. The proportion exhibiting freedom from recurrent mitral regurgitation ($\geq$moderate) at 4 years in Groups I and II were, respectively, 94.5 and 91.8%, (p=0.695). Left ventricular ejection fraction decreased in the early postoperative period ($7{\pm}2$ days) and recovered by last follow-up ($25{\pm}16$ mos; p=0.002). The pattern was similar in groups I and II (p=0.905). Re-operation was performed in 3 patients (1 in Group I and 2 in Group II, p=0.316). Four-year event-free survival (free of adverse valve-related events) was 95.2% for Group I and 92.6% for Group II; this difference was not significant, p=0.646). Conclusion: The type of technique used in mitral annuloplasty to repair the mitral valve repair after degenerative MR did not affect mid-term clinical and functional results.