• Journal of radiological science and technology
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• v.39 no.4
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• pp.549-555
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• 2016

This study was an evaluation of the significance of each parameter through aimed at pregnant women subjected to screening test(integrated test) in predicting risk of Down syndrome. We retrospectively analysed the correlation of risk of Down's syndrome with Nuchal Translucency(NT) images measured by ultrasound, Pregnancy Associated Plasma Protein A(PAPP-A), alpha-fetoprotein(AFP), unconjugated estriol(uE3), human chorionic gonadotrophin(hCG) and Inhibin A by maternal serum. As a result, a significant correlation with NT, uE3, hCG, Inhibin A is revealed with Down's syndrome risk(P<.001). In ROC analysis, AUC of Inhibin A is analysed as the biggest predictor of Down's syndrome(0.859). And the criterion for cut-off was inhibin A 1.4 MoM(sensitivity 81.8%, specificity 75.9%). In conclusion, Inhibin A was the most useful in parameters to predict Down's syndrome in the integrated test. If we make up for the weakness based on the cut-off value of parameters they will be able to be used as an independent indicator in the risk of Down's syndrome screening.

• Journal of the Korea Academia-Industrial cooperation Society
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• v.22 no.6
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• pp.314-320
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• 2021

With the increasing age of motherhood in recent years, attributed to late marriages due to social or environmental factors, the Down's syndrome screening test using biochemical markers has become essential for pregnant women. The process of diagnosing Down's syndrome pregnancy in the high-risk group subjects involves chromosomal analysis, which is performed on samples obtained through invasive procedures such as chorionic biopsy or amniotic fluid. Thus, to reduce unnecessary invasive tests and lower the risk to mother and fetus, it is important to identify a screening test with low risk and high Down's syndrome detection rate. Recently, as the average age of mothers has increased, numerous inspection agencies have classified high-risk mothers as women over the age of 35 years. This study evaluated a total of 36,436 pregnant women aged between 17 to 46 years, and who requested prenatal screening at an inspection agency in Yongin in 2018. Test (13,690 people) Four tests were conducted by applying the time-resolved fluoroimmunoassay method using the direct sandwich and indirect sandwich technology, and the immunoassay method using the sandwich method. We aimed to confirm the difference in positivity rate with increasing age of the subjects. We believe that in future, data obtained from this study will be very useful for the prevention and treatment of Down's syndrome risk at varied inspection institutions, and for prospective mothers.

• Journal of Dental Rehabilitation and Applied Science
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• v.34 no.3
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• pp.225-231
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• 2018

Down syndrome patients generally have poor oral hygiene due to lack of awareness and ability to perform oral care, and there is a high risk of tooth loss. Also, they are characterized by small and irregular teeth and oligodontia, which makes it difficult to do prosthetic treatment. This article reports a case of implant hybrid prosthesis treatment of maxillary edentulous area in Down syndrome patient. The external shape of the final prosthesis was determined by using the mandibular artificial teeth to reflect the oligodontia of the mandible and the pontic areas were adjusted to facilitate oral hygiene care. As a result, aesthetically and functionally satisfactory results were obtained.

• The Journal of Korea Assosiation for Disability and Oral Health
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• v.13 no.2
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• pp.95-98
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• 2017

Due to hypodontia, poor oral hygiene, and significantly more prevalent periodontal disease, patients with Down syndrome show higher incidence of edentulism. Oral rehabilitation of such patients is imperative but challenging as high rates of prosthesis failure are reported due to malocclusion, high masticatory force, and parafunctional habits. As CAD/CAM(Computer-Aided Design and Computer Aided Manufacturing) is the recent trend in prosthodontics, this report discusses the application of CAD/CAM in a Down syndrome patient. A 25-year-old patient with Down syndrome was presented to the Department of Pediatric Dentistry, Yonsei University Dental Hospital for oral examination. 5 maxillary teeth were missing, 3 were fully impacted, and 4 had grade III mobility. The patient underwent general anesthesia for extraction of impacted and mobile teeth, implant surgery, and final impression for prosthesis. Afterwards, CAD/CAM was used to design and manufacture a 10-unit zirconia bridge. However the bridge was fractured after 18 months due to the patient's bruxism and high masticatory force. Final impression taking, bite registration, cast fabrication, cast scanning, and prosthesis designing were not needed as CAD/CAM data remained. Previous CAD/CAM design was used to remanufacture the zirconia bridge. Down syndrome patients have malocclusion, high masticatory force, and parafunctional habits which increase the possibility of prosthesis fracture. CAD/CAM is beneficial for Down syndrome patients as previous digital records can be utilized for prosthesis repair or remake. In detail, application of CAD/CAM in remanufacturing decreases patient's discomfort of impression taking, shortens and simplifies dental laboratory procedures, and reduces clinician's effort of taking detailed final impressions or accurate bite registration. In conclusion, oral rehabilitation using CAD/CAM provides not only satisfactory levels of comfort, stability, and esthetics, but also easier repair or remake compared to conventional prostheses.

• Journal of Chest Surgery
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• v.34 no.4
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• pp.311-321
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• 2001

배경: 본 연구에서는 16년간 본원에서 시행한 완전방실중격결손 환자의 수술성적을 고찰하고 수술후 사망 및 술후 잔존 좌측방실판막부전의 발생에 관여하는 위험인자들을 분석하고자 하였다. 대상 및 방법: 본원에서 84년 7월부터 2000년 6월까지 수술한 완전방실중격결손 환자 70명의 임상기록을 후향적으로 연구관 하였다. 70명의 대상환자중 남아 환아는 36명 여아 환아는 34명이었고 연령분포는 1개월에서 19세였다.(평균나이는 32.$\pm$71.9개월). 이중 다운증후군이었던 환자는 39명(55.7%)이었으며 술후 라스텔리 분류 A형이 42명(60.0%), B형이 6명(8.6%), C형이 20명(28.6%)이었고 기록상으로 분류를 확인 할 수 없는 경우가 2명 (2.9%)이었다. 결과: 9(12.9%)명에서 술후 조기사망했으며, 이를 기간별로 비교해 보면 1996년 이전은 20.0%, 1996년 이후 최근 5년간은 7.7% 였으며 둘 사이의 통계학적 유의한 차이는 없었다. 술후 10명(14.3%)에서 3도이상의 잔존좌측방실판막부전을 보였다. 5년 및 10년 장기 생존율은 79.4%였고, 4명의 환자에서 5례의 재수술을 시행하였으며 5년간의 7.7% 였으며 둘이상의 통계학적 유의한 차이는 없었다. 술후 10명(14.3%)에서 3도이상의 잔존 좌측방실판막부전을 보였다. 5년 및 10년 장기 생존율은 79.4% 였고, 4명의 환자에서 5례의 재수술을 시행했으며 5년 및 10년 장기 재수술 회피율은 91.4%였다. 수술후 사망에 관여하는 위험인자 분석을 시행하여 술후 잔존좌측방식판막부전이 3도 이상인 겨우 오즈비가 38.5 (p<0.001)로 통계적으로 유의한 위험 인자로 나타났다. 또한 술후 잔존좌측방실판막부전의 발생에 관여하여 위험인자 분석을 시행하여 술후 좌측방실판막의 교련을 교정한 경우 오즈비가 6.72(p=0.02)로 통계적으로 유의한 위험인자로 나타났다. 결론: 1세이하 환아를 포함한 완전방실중격결손증의 수술은 낮은 수술사망율과 재수술율 그리고 양호한 장기성적으로 보였다. 또한 이에는 3도 이상의 잔존 좌측방실판막부전의 발생이 술후 사망에 중요한 위험인자로 기여하여 수술적 교정후 잔존 좌측방실판막부전의 정도를 줄이고 좌측방실판막의 양호환 교합을 유지하기 위해서는 완전방실중격결손증의 방실판막의 다양한 해부학적 형태로 따른 개별적인 접근법이 유효하다고 생각한다.고 생각한다.

• Journal of Chest Surgery
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• v.42 no.3
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• pp.299-304
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• 2009

Background: Although the results of the surgical management for complete atrioventricular septal defect (c-AVSD) have improved, the optimal surgical strategy is still controversial. The aims of this study are to evaluate the outcome of c-AVSD repair and to define the risk factors related to reoperation. Material and Method: We retrospectively reviewed the medical records of 35 patients (8 males and 27 females) who underwent the total correction of c-AVSD from August 1996 to March 2008. The median age at repair was 5.2 months (range: 3 days$\sim$82 months). Sixteen patients (45.7%) were associated with Down syndrome. Prior palliative operations were performed in 4 patients. The one-patch techniques were performed in 3 patients, and the two-patch techniques were done in 32 patients. Result: There was 1 early death (2.9%). The median follow-up period was 68 months (range: $2\sim134$ months) for 34 survivors. There was no late death. Reoperations were performed in 5 patients (14.3%) for severe left atrioventricular valvular regurgitation (AVVR). Nine patients (25.7%) showed left an AVVR of more than grade III. Associated major cardiac anomalies and the use of Gore-Tex patch for ventricular septal closure were the risk factors for postoperative left atrioventricular valve failure and reoperation. Conclusion: In this study, we found that surgical repair of c-AVSD was safe and effective. However, the high reoperation rate after repair remains a problem to be solved.

• Tuberculosis and Respiratory Diseases
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• v.50 no.6
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• pp.668-675
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• 2001

Background : Non-smalll lung cancer(NSCLC) develops as a result of the accumulation of multiple genetic abnormalities. Loss of heterozygosity(LOH) is one of the most frequent genetic alterations that is found in NSCLC, and the chromosomal regions that display a high rate of LOH are thought to harbor tumor suppressor genes(TSGs). This study was done to determine the frequency of LOH in 21q with the aim of identifying potential TSG loci. Method : Thirty-nine surgically resected NSCLCs were analysed. Patients peripheral lymphocytes were used as the source of the normal DNA. Five microsatellite Inarkers of 21q were used to study LOH : 21q21.1(D21S1432, and D21S1994); 21q21.2-21.3(D21S1442) ; 21q22.1(21S1445) ; and 21q22.2-22.3(D21S266). The fractional allelic loss(FAL) in a tumor was calculated as the ratio of the number of markers showing LOH to the number of informative markers. Result : LOH for at least one locus was detected in 21 of 39 tumors(53.8%). Among the 21 tumors with LOH, 5(21.8%) showed LOH at almost all informative loci. Although statistically not significant, LOH was found more frequently in squamous cell carcinomas(15 of 23, 65.2%) than in adenocarcinomas(6 of 16, 37.5%). In the squamous cell carcinomas the frequency of LOH was higher in stage II-III (80.0%) than in stage I (53.8%). The FAL value in squamous cell carcinomas($0.431{\pm}0.375$) was significantly higher than that found in adenocarcinomas($0.l92{\pm}0.276$). Conclusion : These results suggest that LOH on 21q may be involved in the development of NSCLC, and that TSG(s) that contribute to the pathogenesis of NSCLC may exist on 21q.

• 재활복지
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• v.22 no.3
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• pp.69-91
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• 2018

This study aims to identify factors of life satisfaction of the adults with developmental disabilities, focusing on the comparison between young and old. Data are collected through in-depth interview of the adults with developmental disabilities as well as via workers proxy responses at the group home. Regression model analysis is conducted based on 387 cases. The result shows that the young adults with developmental disabilities are more likely to satisfied with life when they evaluate job performance of workers at the group home and when they are more actively involved in community activities. For the old adults with developmental disabilities, life satisfaction is positively associated with their evaluation of job performance of workers at the group home as in the young adults. In addition, life satisfaction of the old adults is higher when they feel less fatigue. It is also higher for those with more choices on residence and higher level of social activities. The findings reveals that enhancement of life satisfaction for the old adults with developmental disabilities dwelling at group home require supports and services for health and social activities different from other ages. It shares the general ideas that service efforts should be made for needs and desires of the recipients. The present study suggests to expand our research interests to include the disabled in danger of early aging, such as the persons with Down Syndrome and the persons with intellectual disability and cerebral palsy, and look into their particular needs.

• Journal of Genetic Medicine
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• v.5 no.2
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• pp.119-124
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• 2008

Purpose: Aneuploidy is the cause of diseases such as Down syndrome or Edward syndrome and, more generally, is a major cause of mental retardation and fetal loss. The purpose of this study was to evaluate the association between MTHFR (C677T) or MTRR (A66G) polymorphisms and fetal aneuploidy. Materials and Methods: Data was collected from 37 women who had a fetus with aneuploidy (cases) and 78 women who had previously delivered at least two healthy children without aneuploidy and did not have a history of miscarriage or abnormal pregnancy (controls). The MTHFR (C677T) or MTRR (A66G) polymorphisms were analyzed by PCR-restriction fragment length polymorphism assay. Results: The frequencies of the MTHFR 677 CC, CT, and TT genotypes were 30.7%, 48.7%, and 20.6% in the control group and 37.8%, 48.6%, and 13.5% in the case group, respectively. There were no significant differences in genotype frequencies between the two groups. For the MTRR A66G polymorphism, the frequencies of the AA, AG and GG genotypes were 50%, 46.1%, and 3.9% in the control group and 13.5%, 81.1%, and 5.4% in case group, respectively. The frequency of the MTRR AG mutant was significantly increased in the case group, with an odds ratio of 6.5 (95% CI: 2.3-18.6, P<0.05). Conclusion: The results of this study suggest that mother carriers with the MTRR G allele have an increased risk of fetal aneuploidy, while the MTHFR T allele is not associated with increased risk of fetal aneuploidy. The MTRR A66G polymorphism may be a risk factor for producing a child with chromosomal aneuploidy.