• 한국동물학회지
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• 제30권4호
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• pp.371-378
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• 1987

The fractions of serum proteins, the levels of serum immunoglobulins and the positive rate of HBs Ag were investigated in Korean patients with Down's syndrome. Mean concentrations (g/dl) of serum protein, albumin, a1,-globulin fraction, a2-globulin fraction, $\beta$-globulin fraction and Y-globulin fraction were 7.80$\pm$1.44, 3.89$\pm$0.74, 0.26$\pm$0.09, 0.80$\pm$0. 18, 1.00토0.29 and 1.85$\pm$0.64, respectively. Mean concentrations(mg/dl) of IgG, IgA and IgM were 1,682.17$\pm$600.26, 247.39$\pm$180.86 and 170.87$\pm$79.90, respectively. The positive rate of HBs Ag was 21.74% These results revealed higher levels of Y-globulin fraction, IgG and positive rate of HBs Ag in patients with Down's syndrome than in normal population.

• 대한장애인치과학회지
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• 제13권2호
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• pp.95-98
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• 2017

본 증례는 다운 증후군이 있는 환자의 구강 재건 시 CAD/CAM 시스템 사용의 이점을 모색해보았다. 다운 증후군 환자들의 경우, 보철물 파절의 위험성이 크며 불가피하게 보철물을 재제작할 경우, CAD/CAM 시스템의 기존 데이터를 이용하여 최소한의 기공 과정만 진행하여 보철물을 빠른 시일 내에 재제작할 수 있다. 결과적으로 이는 심미적 및 기능적 개선을 통해 삶의 질을 높일 수 있는 보철물 제작 시 환자의 불편감과 치과의사의 노력을 최소화하는 방법이다.

• 한국운동역학회지
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• 제19권1호
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• pp.107-115
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• 2009

본 연구는 다운증후군을 가진 아동($9{\sim}12$세) 9명을 대상으로 12주간의 근력, 평형성, 보행 동작 훈련이 보행과 관련된 운동학적 특성에 미치는 효과를 규명하는 것이다. 근력, 평형성, 보행의 변화를 관찰하기 위해서 훈련이 시작되어 12주가 경과한 시점에서 사전 검사와 동일한 방법으로 보행의 운동학적 변인을 측정하였다. 보행의 운동학적 특성은 3차원 영상분석법을 통하여 산출하였다. 12주간의 근력, 평형성, 보행훈련 후에 골반의 회전이 감소하였으며, 무릎과 엉덩 관절의 굴곡이 증가하였으며, 다리를 스윙할 때 엉덩관절의 외전이 감소하였다. 또한, 분당 보폭 수가 증가하였으며 보폭은 감소하였다. 결론적으로 다운증후군 아동들은 12주간의 근력, 평형성, 보행훈련 후에 보행의 운동학적 변인이 향상되었다.

• 한국치위생학회지
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• 제9권3호
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• pp.357-368
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• 2009

The purpose of this study was to examine the state of dental treatment among disabled patients by the type of disability. After the medical records of 531 disabled patients who received treatment at the pediatric dentistry in K university hospital, the following findings were given: 1. As for age distribution by year, the rate of patients aged 10 or down rose to 42.5 from 5.1 percent, and the 16-20 age group increased from 16.7 to 24.8 percent. But the rates of patients aged between 11 and 15 and aged 21 and up were on the rise(p<.05). 2. Concerning the type of disability by year, there was an increase in the number of patients with brain lesions, mental retardation, developmental disorder and Down's syndrome(p<.05). As to the number of dental caries by the type of disability, the patients with heart diseases had the most dental caries that numbered 8.49, followed by Down's syndrome, metal retardation, brain lesions, the other disabilities and developmental disorder. 3. In relation to dental treatment experiences by the type of disability, the patients with developmental disorder(57.5%) received the most dental treatment, followed by mental retardation, the other disabilities, brain lesions, Down's syndrome and heart diseases(p<.05). 4. Regarding general anesthesia experience by the type of disability, the patients with mental retardation(31.6%) were put under general anesthesia the most, followed by developmental disorder, brain lesions, the other disabilities, heart diseases and Down's syndrome(p<.05). In conclusion, nationwide efforts to nurture separate dental personnels responsible for the disabled, to expand relevant facilities and to improve the health care insurance are required to promote the oral health of disabled children.

• 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.

• 한국운동역학회지
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• 제16권2호
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• pp.145-151
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• 2006

A large interindividual variability and some abnormally kinematic patterns at the lower extremity were the main features of the gait in children with Down syndrome. The purposes of this study were to investigate the gait asymmetry and biomechanical difference between dominant leg and non dominant leg in children with Down syndrome. Seven boys with Down Syndrome(age: $120{\pm}0.9yrs$, weight $34.4{\pm}8.4kg$, leg length: $68.7{\pm}5.0cm$) participated in this study. A 10.0 m ${\times}$ 1.3 m walkway with a firm dark surface was built and used for data collection. Three-dimensional motion analyses were performed to obtain the joint angles and range of motions. The vertical ground reaction forces(%BW) and impulses($%BW{\cdot}s$) were measured by two force plates embedded in the walkway. Asymmetry indices between the legs were computed for all variables. After decision the dominant leg and the non dominant leg with max hip abduction angle, paired samples t-test was employed for selected kinematic and ground reaction force variables to analyze the differences between the dominant leg and the non dominant leg. The max hip abduction angle during the swing phase showed most asymmetry, while the knee flexion angle at initial contact showed most symmetry in walking and running. The dominant leg showed more excessive abduction of hip in the swing phase and more flat-footed contact than the non dominant leg. Vertical peak force in running showed more larger than those of in walking, however, vertical impulse showed more small than walking due to decrease of support time. In conclusion, the foot of dominant leg contact more carefully than those of non dominant leg. And also, there are no significant difference between the dominant leg and the non dominant leg in kinematic variables and ground reaction force due to large interindividual variability.

• 융합정보논문지
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• 제11권4호
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• pp.153-160
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• 2021

본 연구는 새로 개발된 구강운동치료 접근법인 구강운동촉진기술(OMFT) 치료법을 소개하고, 다운증후군 아동 사례를 통해 구강감각운동 치료 접근이 구강실행기능 및 구강기능에 미치는 효과를 확인하고자 한다. 구강운동촉진기술은 치료사의 직접적인 치료 접근을 통해 얼굴 구강 구조물들의 감각, 근력, 근긴장도, 구강운동 협응증진을 통한 섭식 및 구강실행 기능 향상을 목적으로 하는 구강운동 치료법이다. 대상 아동은 다운증후군 남자 1명(10세)으로, 2020년 5월~7월, 주 1회, 15분의 구강운동촉진기술 치료(8회)를 하였으며, 치료 전 후 구강실행기능, 침흘림, 씹기 기능을 비교하였다. 치료 결과 구강실행기능의 모든 항목에서 수행이 증진되었다. 침 흘림의 양과 빈도가 감소하였고 씹기 기능의 질적인 증진을 보였다. 본 연구를 통해 구강운동촉진기술을 적용한 구강운동치료 접근이 다운증후군 아동의 구강실행기능 및 씹기 기능 증진과 침 흘림 감소에 미치는 효과를 확인하였다.

• Clinical and Experimental Reproductive Medicine
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• 제26권1호
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• pp.43-54
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• 1999

Klinefelter's syndrome is a very important disease in gynecologic endocrinologic fields, because the patients with this karyotype complain of infertility, azospermia and ambiguous genitalia. Y chromosome is an important chromosome which determine genetic sex and the structure of gonad and genitalia. In this study, to elucidate the cytogenetic characteristics and clinical features of Klinefelter's syndrome and Y chromosomal abnormalities in Korea, we studied 303 cases of Klinefelter's syndrome and 11 cases of Y chromosomal abnormalities which were diagnosed by chromosomal analysis at the Cytogenetic Laboratory, Institute of Reproductive Medicine and Population, Seoul National University for 12 years from January 1984 to December 1996. The results of this study showed as follows: 1. In a total of 9275 cases, there were 303 cases (3.3%) of Klinefelter's syndromes, 11 cases (0.1%) of Y chromosomal abnormalities. 2. In 102 cases of patients showed typical clinical features of Klinefelter's syndrome, 101 cases (99%) of them were diagnosed to Klinefelter's syndrome in karyotyping. 3. In 303 cases of Klinefelter's syndrome, there were 277 cases (91.4%) of 47,XXY complement, 16 cases (5.3%) of mosaicism, 2 cases (0.7%) of 48,XXXY, 5 cases (1.7%) of 48,XXYY and 3 cases (1.0%) of 49,XXXXY. 4. In 303 cases of Klinefelter's syndrome, 284 cases (93.7%) of them were diagnosed after puberty and only 19 cases (6.3%) of them were diagnosed before puberty. 5. In 303 cases of Klinefelter's syndrome, there were 146 cases (48.2%) of patients with infertility-associated chief complaints, 101 cases (33.3%) of patients with typical clinical features of Klinefelter's syndrome, 22 cases (7.3%) of patients with ambiguous genitalia. 6. In patients with Klinefelter's syndrome, 48,XXYY and 49,XXXXY had serious symptoms such as mental retardation, developmental delay, Down syndrome-like features, congenital anomalies, but 48,XXYY and other mosaicisms had infertility-associated symptoms or ambiguous genitalia. 7. The 8 cases of polysomy Y (XYY complement) showed several serious symptoms such as Down syndrome-like features, mental retardation, fragile X syndrome-like feature, congenital anomalies, ambiguous genitalia which could be detected before puberty.

• 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.

• 대한임상검사과학회지
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• 제37권1호
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• pp.56-60
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• 2005

Human chorionic gonadotrophin (hCG) and unconjugated estriol (uE3) were added to AFP to make what is commonly known as the Triple test. The Triple test combines results from these three tests and has been a standard screening procedure for several years. Recent studies have demonstrated the usefulness of adding inhibin-A to Down's syndrome risk assessment. The Quad test adds dimeric Inhibin-A (DIA) to the three other markers and uses the same computer program to calculate risk factors. Testing was performed between 14 and 21 weeks of gestation. Sample size were 648 samples and period of study was from 1, July, 2004 to 30, September, 2004. Used analytical methods for AFP, hCG and uE3 were radioimmunoassay (RIA) and dimeric inhibin A was enzyme-linked immunosorbent assay (ELISA). Adding dimeric inhibin-A as a fourth marker to the standard triple test increases the detection rate from 62 % to 75 % with a false-positive rate of 5%. The DIA based Quad test has been shown to be the most effective second trimester screening test for Down's syndrome suitable for routine use. Increased DIA values are observed during normal pregnancy where a bimodal pattern response is seen. Values increase during the first trimester, decline after 14 weeks, and re-ascend between 17-25 weeks. Values for DIA may be additionally elevated during a Down's syndrome pregnancy. Dimeric inhibin A is a glycoprotein hormone made by the ovary and placenta. DIA levels are twice as high in Down's syndrome pregnancies. AFP, hCG, and uE3 levels vary with gestational age, and incorrect gestational dating will influence results. DIA levels do not vary substantially with gestational age, resulting in greater screening accuracy. Although the Quad test is an improvement over the Triple test, it is important to underscore the fact that a positive test on both should be done. Most women who initially screen positive will be found to be carrying normal babies when amniocentesis and definitive diagnostic chromosome analysis are done.