• 말소리와 음성과학
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• 제9권2호
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• pp.125-135
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• 2017

The current study examines PCC (percentage of correct consonant), speech intelligibility, and oral motor function between the group of typically developing children and the group of children with Down's syndrome. To 15 children with Down's syndrome (mean CA: 9;7) and 15 typically developing children on receptive language age, the following tests were administered: K-WPPSI (2001), Picture Vocabulary Test (Kim et al., 1995), Oral and Speech Motor Control Protocol for total oral functional score (Robbins et al., 1987), DDK and Assessment of Phonology and Articulation for Children (APAC, Kim et al., 2007) for PCC and speech intelligibility. Pearson correlation coefficients were computed for the total oral functional score, PCC and DDK of each group. The statistical analysis showed that there is no significant difference in total functional score and DDK when IQ was controlled. There was a significant correlation between total oral functional score and PCC in the Down's syndrome group and a significant correlation between total oral functional score and intelligibility in the Down's syndrome group whether IQ was controlled or not. The findings suggest that both cognitive ability and overall oral motor function need to be considered for the intervention to enhance PCC or speech intelligibility of children with Down's syndrome.

• 대한통합의학회지
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• 제6권4호
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• pp.127-137
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• 2018

Purpose : The purpose of this study has been performed to find the effect of horseback riding simulation training on the thickness of abdominal muscles and functional balance in children with down syndrome. Methods : This study included 10 children with down syndrome aged between 7 and 13 years. Both groups received regular neurodevelopmental treatment, also experimental group was performed for additional 15 minutes horseback riding simulation training for twice a week during 8 weeks. We measured the thickness of abdominal muscles by using ultrasonography and measured of functional balance by using Pediatric Berg's Balance for the subjects agreed to the before, after 4 weeks and 8 weeks the training. Results : There were no significant difference in the thickness of the internal oblique and external oblique muscles. There were significant difference in transverse abdominis thickness and functional balance that experimental group had increased average than control group after 4 weeks and 8 weeks training Conclusion : Horseback riding simulation training has a positive effect on the improvement of transverse abdominis muscle thickness and functional balance in children with down syndrome.

• 한국운동역학회지
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• 제29권3호
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• pp.137-143
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• 2019

Objective: Ligament laxity and hypotonia are characteristics of Down syndrome patients. The aim of this study was to compare the landing pattern between Down syndrome patients and typically developing subjects. To compare the landing pattern, variables related to ligament laxity and hypotonia i.e. vertical stiffness and lower extremities kinematics were investigated. Method: Five subjects with Down syndrome (age: $14.6{\pm}1.8years$, mass: $47.6{\pm}6.94kg$, height: $147.9{\pm}6.0cm$) and six able-bodied subjects (age: $13.2{\pm}0.4years$, mass: $54.7{\pm}6.7kg$, height: $160.1{\pm}9.8cm$) participated in this study. Results: The vertical displacement of the center of mass, vertical reaction force, leg stiffness and range of ankle angle range among Down syndrome patients were significantly different than typically developing group. The youth with Down's syndrome appeared to receive greater vertical impact force at landing than normal youth. Conclusion: The differences in the biomechanical characteristics suggest the delay in motor development among Down syndrome patients and an increased risk of injury to the lower extremity during movement execution such as drop landing.

• 대한화상학회지
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• 제22권2호
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• pp.21-24
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• 2019

Incidence of low-temperature contact burn by use of an electric pad is increased recently, especially in depressed sensory. Acquired immune deficiency syndrome patient using antiretroviral agent suffered with sensory depression as side effect. There are many limitations in wounds treatment of these patients. These patients are vulnerable to infection due to their weak immunity, so it is necessary to keep them in a state of isolation when a wound occurs. We report a case of a third degree burn by electric pad with a surface area of approximately 5% of the body surface of a patient who underwent a sensory depression, which is a side effect of antiretroviral drugs used for treatment in patients with AIDS. In this regard, we report the case with literature review, which is safely recovered using negative-pressure wound therapy and split-thickness skin graft.

• Journal of Genetic Medicine
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• 제4권2호
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• pp.190-195
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• 2007

목 적:산전진단에 있어 빠른 진단을 위해 그 유용성이 널리 알려져 있는 FISH 방법을 미배양 세포에 적용할 때, 그 민감도를 높이기 위해 본 연구소의 경험과 기준을 소개하고자 한다. 방 법:1999년 5월부터 2006년 6월까지 본연구소에서 다운증후군 고위험군, 에드워드 증후군 고위험군, 고령산모, 초음파 이상소견 등의 적응증을 주소로 시행한 7,893례의 양수검체를 대상으로 빠른 진단을 위해 8,613례의 미배양 양수세포에 FISH 검사를 시행하였다. 분석은 함춘유전연구소의 기준에 따랐으며, 기존의 세포유전학적 결과와 최종 비교하였다. 결 과:8613례의 FISH 검사 결과, 30개 이상의 세포관찰이 가능하고, 정상인 경우 정상세포의 비율이 75%, 비정상의 경우 비정상 세포의 비율이 70%에 해당하는 8,502례의 결과를 얻었으며, 세포유전학적 결과와도 일치하였다. 결 론:산전진단 시 빠른 진단을 위한 FISH검사는 매우 유용하며, 정확한 분석을 위해 그 기준을 마련하는 것은 매우 중요하다 하겠다. 그러나 비용과 인력이 많이 소요되는 한계점을 가지고 있다.

• Advances in pediatric surgery
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• 제10권2호
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• pp.99-106
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• 2004

1994년 1월부터 2003년 6월까지 경북대학교 의과대학 외과학 교실에서 경험한 선천성 장폐쇄증 환자 36명을 대상으로 재태기간과 출생시 체중, 산전진단 및 출생장소, 임상소견, 수술전 검사, 동반기형, 수술방법, 형태학적 분류, 합병증 및 사망률을 후향적으로 검토하였다. 총 36예의 환자중에서 십이지장 폐쇄증 17예, 공장 폐쇄증 11예, 회장 폐쇄증 8예 있었다. 남녀비는 십이지장 폐쇄증은 1.4:1, 공장 폐쇄증 2.7:1, 회장 폐쇄증의 경우는 7:1 이었다. 형태학적 분류에서 십이지장 폐쇄증은 3형이 7예로 가장 많았으며, 공장 및 회장 폐쇄증은 1형이 10예로 가장 많았으며, 3a형이 7예 있었다. 임상 소견은 담즙성 구토와 복부 팽만이 가장 흔한 증상이었다. 수술 전 검사는 십이지장 페쇄증은 전예에서 단순복부촬영만으로 정확하게 진단이 가능하였다. 동반 병변은 십이지장 폐쇄증 환자 중선천성 심기형 6예, 다운증후군이 3예 있었고, 공장 및 회장 폐쇄증에서는 3예에서 태변성 복막염이 동반되었다. 수술방법은 부분절제술을 시행한 경우가 13예로 가장 많았다. 술 후 합병증은 문합부 유출 3예, 장 폐색증 3예, 창상 감염이 3예 있었으며, 십이지장 폐쇄증 환자 2예 9사망률:11.8 %)에서 동반된 선천성 심 기형으로 사망하였으며, 공장 폐쇄증 환아 2예(사망률: 18 %)는 폐혈증과 3b 형에서 장 절제 후 단장 증후군으로 각각 사망하였다.

• Childhood Kidney Diseases
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• 제17권2호
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• pp.127-131
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• 2013

요낭종이란 신장 및 비뇨기계로부터 누출된 소변이 신장 및 신우 주위에 캡슐상의 낭종을 형성하는 드문 질환으로 자연발생적인 신우의 파열로 인한 누출은 매우 드물며, 대부분 요로와 신우 내강의 압력 증가에 의해 발생한다. 본 증례에서 18세 여자 환아는 내원 7일 전부터 시작된 고열과 핍뇨 및 호흡곤란을 주소로 내원하였다. 환아는 출생시 다운 증후군을 진단받았으며 평소 배뇨는 원활하였다. 입원 후 환아는 패혈증 쇼크 및 급성 신손상, 급성 호흡 곤란 증후군 진단 하에 항생제 및 스테로이드 충격 요법 시행 후 핍뇨, 호흡곤란 및 혈액검사 호전 소견 보였으나 7일 동안 유치된 도뇨관 제거 후 환아는 요 폐색 소견이 관찰되었다. 복부 전산화 단층 촬영상 좌측 신장 주위에 요낭종이 확인되어 좌측 요관에 Double-J catheter가 삽입 되었으며 신우의 파열 부위에 조영제 누출이 확인되었다. 시술 후 요 폐색 소견은 호전되었고, 배뇨성 방광 요도 조영술 상 좌측 신장의 4단계 방광 요관 역류가 관찰되었다. Double-J catheter 제거 3개월 후 좌측 신장 주변의 요낭종은 대부분 소실되었고, 좌측 신장의 방광 요관 역류는 보이지 않았다. 저자들은 급성 신부전 환아에서 유치 도뇨관 제거 후 배뇨곤란 및 요 폐색 소견을 보인 신 주위 요낭종 1례를 경험하였기에 보고하는 바이다.

• 대한한방소아과학회지
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• 제26권4호
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• pp.61-70
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• 2012

Objectives: Literature Study of clinical cases with Traditional Chinese Medicine (TCM) as reference for Korean medicine based treatment of juvenile patients with Down's syndrome. Methods: 4 TCM journals with the highest impact factors were searched and selected among the journals listed in www.cnki.net. The search keywords were "蒙古症", "唐氏症(産生唐氏症)", "唐氏症候群", "先天愚型", "伸舌樣痴呆", "21三体綜合徵", "三染色体症", "Down's syndrome", and "Mongolism". Accordingly, searched papers were analyzed. Results: Total 6 studies were selected: RCT(5), case report(1). Among the RCT related studies, 2 studies tested the effect of Electroacupuncture (電鍼), 1 study tested the effect of Electroacupuncture and Pharmacopuncture (藥鍼) treatment together, and 2 studies tested the effect of Electroacupuncture and Herbal Medicines (藥物) co-treatment. In all the studies, the study groups showed significantly improved intelligence quotient (IQ) in comparison with the control groups. The case report showed improvement of cognitive ability and other clinical parameters as a result of Acupuncture (鍼) and Herbal Medicines co-treatment in juvenile patients with Down's syndrome. Conclusions: Clinical studies testing the effect of TCM for the treatment of Down's syndrome have been conducted in small scales, and all the studies showed a certain level of brain function improvement of the patients in the study groups. These results implicate that the methods in Korean medicine can be highly potential treatment options for the treatment of Down's syndrome. Conduction of accurate and well-controlled studies in large scale would be required to prove the effect of Korean medicine for the treatment of patients with Down's syndrome.

• 대한장애인치과학회지
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• 제3권2호
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• pp.75-79
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• 2007

Background: Down's syndrome, or trisomy 21, is the commonest congenital chromosome anomaly. With improvement in medical care, these patients increasingly reach adulthood in spite of their physical maldevelopment and mental retardation. And, the number of those who required general anesthesia for dental treatment is increasing. Methods: We reviewed the 26 cases of 22 patients with Down's syndrome who underwent outpatient general anesthesia for dental treatment at the clinic for the disabled in Seoul National University Dental Hospital. Results: The mean age was 22 years. They all had severe mental retardation and some had congenital heart anomaly, epilepsy, hypothyroidism, acute leukemia, autism, cleft palate, and chronic renal failure. For anesthesia induction, 4 cases was needed physical restriction, but others showed good or moderate cooperation. Drugs used for anesthesia induction was thiopental (17 cases) and sevoflurane (9 cases). All patients received nasotracheal intubation and 3 cases needed difficult airway management. Mean total anesthetic time was $166{\pm}60$ min and staying time at PACU was $92{\pm}48$ min. There was no death or long term hospitalization because of severe complications. Conclusion: If general anesthesia is needed, pertinent diagnostic tests and workup about anomaly, and appropriate anesthetic planning are essential for safety.

• Clinical and Experimental Reproductive Medicine
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• 제21권2호
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• pp.201-206
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• 1994

Down syndrome is one of the major chromosomal anomalies in Korea. To decrease incidence of Down syndrome, antenatal diagnosis is essential. At present, antenatal diagnosis of Down syndrome is done by karyotyping from chorionic villus sampling, amniocentesis, and cordocentsis. All these methods have some problems such as a risk of abortion, a long waiting time, difficulties in sampling, and so on. The aim of study was to confirm that PCR(Polymerase Chain Reaction) using D21S11 primer could be a diagnostic tool for Down syndrome. PCR using D21S11 primers with $^{32}P$ labeling at 5' end was done in 21 cases of DNA from 21 Trisomy and 20 cases of DNA from normal karyotype. PCR product was running for 10 hours on the 6% polyacrylamide gel under 1,000 V or for 8 hours under 1,500 V. After X-ray film exposure, it was read by densitometry. Normal group showed 1: 1 band or single band. 21 Trisomy group showed 1.3-2: 1 band or 2.3 times of density compared to normal single band or 3 bands. This method gave the result within 24 hours. It can be an useful diagnostic tool to detect 21 Trisomy antenatally, especially in late pregnancy, and in preimplantation diagnosis.