• Journal of Life Science
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• v.19 no.3
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• pp.317-321
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• 2009

Down syndrome (DS) results from overexpressed genes on an extra copy of human chromosome 21. Among various phenotypes seen in DS patients, mental retardation, such as learning and memory deficits, is a major factor that prevents DS individuals from leading fully independent lives. The Dyrk1A gene that plays a critical role in neurodevelopment has been isolated from chromosome 21, and transgenic mice with over-expression of Dyrk1A show severe hippocampal dependent learning and memory defects. In the present study, as an initial step to test the treatment of Dyrk1A dependent mental retardation phenotypes in model animals, we isolated human Dyrk1A specific lentiviral short hairpin RNA (shRNA) that inhibits the exogenous human Dyrk1A expression, but not the endogenous mouse expression in transgenic mice with human Dyrk1A overexpression. This limited and specific repression of exogenous human Dyrk1A will prove to be valuable information, if Dyrk1A dependent learning and memory defects in DS patients could be treated or at least ameliorated in vivo.

• The Journal of Korean Academy of Prosthodontics
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• v.57 no.1
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• pp.81-87
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• 2019

Patients with Down's syndrome have several dental complications such as small teeth caused by underdevelopment of dentin and enamel, periodontitis, agenesis of teeth, prolonged retention of primary teeth and malocclusion due to narrow palate. Removable denture with maxillary double crowns would be a good treatment option to solve the problems of the patient with Down's syndrome. Double crowns compensate the insufficient support and retention of denture and easily solve the cross bite problem. Double crowns also allow easy repair of denture in case of abutment teeth extraction. In this case, 26-year-old female patient with Down's syndrome and dental phobia had small number of teeth with enamel hypoplasia, prolonged retention of primary teeth and dental cross bite. Prosthetic treatment was done using removable denture with double crowns in the maxilla. In the mandible, teeth preparation was done on enamel margin without anesthesia. Anterior laminate and posterior complete zirconia crown restorations were performed. As a result, the cross bite was effectively corrected by denture with double crowns. Pronunciation and appearance were also improved without extraction of teeth and dental anesthesia.

• 월간산업보건
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• s.359
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• pp.58-61
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• 2018

살면서 한두 번 경험해본 것도 아니건만, 병원 방문은 언제나 두렵다. 차가운 의료기기들과 그중에서도 가장 외면하고 싶은 주사기 등은 해마다 열심히 먹은 나이를 무색하게 만든다. 일반인들도 긴장하는 건강검진에 한바탕 울고불고 난리가 벌어질 것 같지만, 예상외로 다운증후군 장애인들은 얌전히 앉아 자신의 차례를 기다리고 있다. 찬바람이 아직 오기를 부리던 2월 말의 어느 날, 공릉동에 위치한 다운복지관에서는 서울산업보건센터의 무료 건강검진이 진행됐다.

• 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.

• Clinical and Experimental Pediatrics
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• v.46 no.7
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• pp.623-626
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• 2003

• Proceedings of the KSPS conference
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• 2000.03a
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• pp.156-163
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• 2000

• Journal of Korean Clinical Nursing Research
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• v.14 no.2
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• pp.19-29
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• 2008

Purpose: The purpose of this study was to explore mothers' adjustments in raising children with Down syndrome and to develop a grounded theory about their adjustments. Method: Three mothers from each group of children in the ages below 7 years, 8-13 years, 14-19 years, and over 20 years participated in the study. Data were collected through an in-depth interview from twelve participants having a child with Down syndrome. Then it was analyzed simultaneously using the grounded theory method. Results: 'Adjustment of mother's expectation according to child's status' was emerged as a core category. The adjustment process was categorized into five stages: shocking, embracing, doing one's best with passion, lowering anticipation, and accepting another living. Conclusion: Being the mother of a child with Down syndrome is not considered to be a negative experience. There are positive experiences along with some more negative ones. Nurses working with families that include children with Down syndrome need to be aware of the obstacles the families will face and should advise necessary support.

• Korean Journal of Applied Biomechanics
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• v.19 no.1
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• pp.107-115
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• 2009

The purpose of this study were to investigate the effects of muscle, balance and walking training on muscle, balance and gait kinematics in children with Down syndrome. Nine children ($9{\sim}12$ years old) with Down syndrome participated in this study. The participant with Down syndrome participated in muscle, balance and walking training for 12 weeks, three times a week Kinematic variables of gait were measured 3-dimentional motion capture system. The results indicated that the pelvis rotation decreased, the knee and hip flexion increased, decreased leg sway during the swing phase, the cadence increased, and the stride length decreased after the muscle, balance and walking training. In conclusion, Down syndrome's gait kinematic variables improved after the muscle, balance and walking training.

• Journal of Korean Academy of Nursing
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• v.45 no.4
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• pp.501-512
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• 2015

Purpose: The purpose of this study, which was guided by the Resiliency Model of Family Stress, Adjustment, and Adaptation, was twofold: (a) to explore family and parental adaptation and factors influencing family adaptation in Korean families of children with Down syndrome (DS) through a quantitative methodology and (b) to understand the life with a Korean child with DS through a qualitative method. Methods: A mixed-methods design was adopted. A total of 147 parents of children with DS completed a package of questionnaires, and 19 parents participated in the in-depth interviews. Quantitative and qualitative data were analyzed using stepwise multiple regression and content analysis respectively. Results: According to the quantitative data, the overall family adaptation scores indicated average family functioning. Financial status was an important variable in understanding both family and parental adaptation. Family adaptation was best explained by family problem solving and coping communication, condition management ability, and family hardiness. Family strains and family hardiness were the family factors with the most influence on parental adaption. Qualitative data analysis showed that family life with a child with DS encompassed both positive and negative aspects and was expressed with 5 themes, 10 categories, and 16 sub-categories. Conclusion: Results of this study expand our limited knowledge and understanding concerning families of children with DS in Korea and can be used to develop effective interventions to improve the adaptation of family as a unit as well as parental adaptation.

• Journal of Genetic Medicine
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• v.6 no.1
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• pp.74-80
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• 2009

Purpose: To assess the value of first-trimester pregnancy-associated plasma protein-A (PAPP-A), nuchal translucency (NT) and second-trimester alpha-fetoprotein (AFP), human chorionic gonadotropin (hCG), unconjugated estriol (uE3), and inhibin-A in predicting pregnancy complications other than fetal aneuploidy. Materials and Methods: A retrospective study in 3,121 singleton pregnancies with integrated testing was performed at Kangnam CHA hospital between January 2005 and December 2006. Baseline characteristics, pregnancy outcomes, and serum marker levels were obtained by review of the medical records. We analyzed the data to identify associations between the integrated screening markers and adverse pregnancy outcomes. Statistical analyses were performed with the SPSS program. Results: In preterm labor and preeclampsia, high AFP, hCG, and inhibin-A levels and low PAPP-A and NT levels were found to be significantly correlated (P<0.05). Elevated second-trimester inhibin-A levels were associated with preeclampsia (odds ratio 2.843), low birth weight (odds ratio 1.446), and preterm labor (odds ratio 1.287), and while decreased first-trimester PAPP-A levels were associated with preeclampsia (odds ratio 0.51) and preterm labor (odds ratio 0.75). Conclusion: First- and second-trimester maternal serum markers screening can be used for predicting high-risk pregnancies.