• 대한장애인치과학회지
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• 제6권2호
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• pp.94-98
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• 2010

저자는 Axenfeld-Rieger 증후군을 가지는 5세 8개월 연환에 대한 구강 및 두개 안면에 대한 임상적, 방사선학적 관찰을 통해 다음과 같은 지견을 얻었다. 1. 본 증례의 환아는 Axenfeld-Rieger 증후군의 전형적인 안과적, 구강적, 전신적 특징인 녹내장, 동공이상, 제탈장, 지연된 골령, 다수 치아 및 치배 결손, 상악 저성장 등을 보였다. 2. 이에 대한 주기적인 관찰과 적절한 시기의 치료개입이 중요하다. 3. 치과의사에 의한 조기진단이 녹내장 등에 의한 시력상실을 방지하기 위해 중요하다.

• Journal of Genetic Medicine
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• 제16권2호
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• pp.55-61
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• 2019

Purpose: Genetic defects in the nuclear-encoded mitochondrial aminoacyl-tRNA synthetases were first identified as causes of various disorders in 2007. Variants in IARS2, which encodes a mitochondrial isoleucyl-tRNA synthetase, were first reported in 2014. These variants are associated with diverse phenotypes ranging from CAGSSS (CAtaracts, Growth hormone deficiency, Sensory neuropathy, Sensorineural hearing loss, and Skeletal dysplasia) and Leigh syndrome to isolated nonsyndromic cataracts. Here, we describe the phenotypic and genetic spectrum of Korean patients with IARS2-related disorders. Materials and Methods: Using whole-exome sequencing followed by Sanger sequencing, we identified five patients with IARS2 mutations. Their medical records and brain magnetic resonance images were reviewed retrospectively. Results: All five patients presented with developmental delay or regression before 18 months of age. Three patients had bilateral cataracts, but none had hearing loss or sensory neuropathy. No evidence of skeletal dysplasia was noted, but two had short stature. One patient had cardiomyopathy and another exhibited renal tubulopathy and hypoparathyroidism. Their brain imaging findings were consistent with Leigh syndrome. Interestingly, we found the recurrent mutations p.R817H and p.V105Dfs*7 in IARS2. Conclusion: To our knowledge, this is the first report of Korean patients with IARS2-related disorders. Our findings broaden the phenotypic and genotypic spectrum of IARS2-related disorders in Korea and will help to increase clinical awareness of IARS2-related neurodegenerative diseases.

• 대한소아치과학회지
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• 제45권1호
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• pp.115-122
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• 2018

누난 증후군은 특이한 얼굴 모습, 작은 키, 선천적 심장질환을 보이는 유전 질환으로 성별에 관계없이 신생아 1000 - 2500명 당 1명의 유병률을 보인다. 누난 증후군으로 진단된 11세 소년이 상악 우측 견치의 위치이상을 주소로 내원하였다. 그는 선천적 폐동맥 협착증을 진단받았으며, 성장발달 지연을 보였다. 지혈에는 문제가 없었으며, 얼굴은 누난 증후군의 특징적 모습을 보였다. 구강검사 시 치성 2급 부정교합, 전방돌출 된 전치, 얕은 피개교합을 보였다. 방사선학적 검사상 상악 우측 견치의 위치이상 및 맹출 경로의 이상으로 상악 우측 측절치의 치근 흡수가 관찰되었다. 측모두부 방사선사진상 상하악의 골격적 패턴은 정상범주에 있었다. 가철성 교정장치를 이용하여 매복치를 견인했다. 본 증례의 누난 증후군 증상 및 구강 내 이상 소견은 심하지 않으나 유병률에 비해 많이 다루어지지 않아 본 증례발표를 통해 누난 증후군 환자의 구강 내 특징 및 치과적 관리 방법에 대해 언급하고자 하였다.

• 대한간호학회지
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• 제3권1호
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• pp.41-51
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• 1972

In this article, the writer attempted to study the followings: (1) mother's knowledge of milk feeding (including method of sterilization, formula and feeding) (2) reasons of artificial feeding (3) how much mothers are concerned about their artificial feeding infants (4) condition of growth and development of artificial feeding infants. As the object of study, 96 mothers with artificial feeding infants, who had consulted dep't of pediatrics of two Hospitals in Seoul (Korea Hospital and Med. College Woo Suk Hospital, Korea Uni.) and well baby clinic of the two Health Centers (Sung Dong and Dongdaemoon), were randomly sampled. The data were treated by the statistic method of chi-square and percentage, and come to the following conclusion. 1. Knowledge of milk feeding Sterilization: 70 percentages of mothers know about the milk sterilization (including bottle, nipple and instrument), but 55 percentages of them do not know the nipple sterilization correctly. Formula: 69 percentages of mothers follow the indicator or in accordance with doctor's directions, but 31 percentages do at their option by reasons that the baby often coughs up the milk, the baby is too small, the baby often has digestive troubles, or the baby grow fleshy heavily etc, except family economic problems. Feeding: only half of mothers know the correct feeding method, especially they do not know how to determine the heat degree of milk and how to bubble up the baby correctly. They just do feeding according to the accepted usages. 2. Reasons of artificial feeding Of the reasons of artificial feeding, 18 percentages were caused by infants and 82 percentages by mothers. Most of the reasons are mainly due to the lack of breast milk and sufficient supply of nourishments rather than mother's deficiency or mother's abnormality. 3. Mother's concern for artificial feeding infants Mothers who are sharply concerned for their artificial feeding baby's growth and development: 63%, mothers who made the baby (artificial feeding infant) routine vaccinated: 81%, mothers who ear anxious about the baby's future personality forming : 68%, mothers who care about the baby's condition of nourishment; 60%, mothers who are anxious about tile selection of baby's food; 54%. 4. The growth and development of artificial feeding infants compared with Korean average infants. The artificial feeding infants are above the Korean average infants in stature by 1.21 centimeters and in weight by 0.3 kilograms. Conclusion: It has been said that there is no better food for infant than the breast milk. However, the artificial feeding has been used for the supplement of nourishments and as substitute food for the breast milk. And this artificial feeding could give the married women the chance to act in society and more opportunity to develop themselves and to work for others at home and other fields. Considering these advantages, artificial feeding should not be exclusive, but preferably should be more improved and inquired positively. And even in artificial feeding, what is most important is that mothers should recognize the requirement and need of artificial feeding clearly and correctly, and they should be accustomed to the correct knowledge and skills of artificial feeding in order to practice it appropriately. In some degree, they should be properly trained in school education process.

• Journal of Preventive Medicine and Public Health
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• 제7권1호
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• pp.131-138
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• 1974

The author has conducted survey on the status of physical growth and morbidity of the children for christian children's fund programme, as a means of collecting basic data for the anticipated establishment of a health planning. A total 345 children aged 9 to 16 underwent C.C.F. programme while as a control, a total of 480 children of same ages from the middle-class school children in Jeonju area was also studied. As results of survey conducted for a period of one month (form July 1 to 31, 1974) on a total 429 children in 347 households living in Jeonju area. I. Socio-economic background 1. By educational status of the children, 39.9 per cent of the total children was attending at primary school, 33.8 per cent in middle school and 15.6 per cent in high school. 2. The greatest proportion or 28.8 per cent of the household head were engaged in labor, 17.9 per cent in peddler and 13.2 per cent in retail. 3. As for the living standard of the households, low class constitued 90.1 per cent, middle and high classes only 9.9 per cent. 4. 39.5 per cent of the households had their own house, 39.1 per cent lived in rent deposit house or rooms and 14.6 per cent in monthly rented house and rooms. II. Physical growth and nutritional status 1. The growth of children for C.C.F. programme in terms of height was found to be slightly smaller than the school children. The ages frm 9 to 16 corespond to the 'secondary growth and replenishment period and this period was regarded to be the one most affected by environmental and nutritional factors of all the other periods of growth and developmet. 2. The body weight of the children for C.C.F. presented a quite different pattern from that of the school children. The above findings appeared thin-and-long stature from the famillies with higher living standard while those from the household with low standard of living had a short-and-plump one. 3. According to the values of Rohrer's index, the children of C.C.F carried a higher degree of 'replenishment' than the children in Jeonju area and adolesecence comes later for the girls under C.C.F. programme. III. Morbidity 1. The monthly prevalence rate was 110.0 per thousand persons for the children under C.C.F. programme. 2. The total number of case was classified by timing of the incidence as follws. 40.0 per cent was constituted by diseases carried over from tile previous month and 60.0 per cent by new incidences. 3. The diseases were broken down by W.H.O. disease classification into the greatest proportion or 39.1 per thousand person constituted by disease of the digestive system.

• 대한소아치과학회지
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• 제30권3호
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• pp.341-347
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• 2003

Smith-Magenis syndrome(이하 SMS)은 제 17번 상염색체의 부분적 결손으로 발생하는 다발성 선천적 기형 및 정신지체를 특징으로 하는 증후군으로 1 : 25,000의 빈도로 발생하는 것으로 알려져 있다. 이 증후군은 작은 키와 단두증(brachycephaly)을 동반한 편평한 중안면, 처진 입, 종종 두드러지게 붉은 뺨, 성인에서 돌출된 턱 등의 특징적인 얼굴 생김새, 만성이염, 청각 손상, 사시와 근시를 포함한 눈의 이상, 목 쉰 소리, 짧은 손가락과 발가락, 심장 질환, 비뇨기 질환, 척추 만곡, 비정상적 걸음걸이, 통각에 둔감함 등의 신체적 특징을 지닌다. 특히 유아기에는 토실토실한 아기 얼굴, 행복한 기분, 드문 울음소리, 낮은 근 긴장도, 섭식 장애 등의 특징이 있다. 수면 장애를 포함하여 언어 지체 및 발음 장애, 발달지체, 학습 장애, 정신지체, 활동항진과 자해, 폭발적 분노, 지속되는 짜증, 파괴적이고 공격적인 행동, 흥분성, 흥분시에 팔로 안거나 손을 끼우는 행동 등의 행동 발달적 특징을 나타낸다. 본 증례는 3세 3개월된 남아로 생후 10개월에 SMS를 진단받은 환자로 상악 좌측 제 1유구치의 통증을 주소로 본과에 내원하였으며, 임상 및 방사선학적으로 다발성 우식증을 보였으며, 소아과 주치의에게 의뢰한 결과 심내막염의 예방을 위한 항생제의 처치를 처방 받고, 환아의 행동 발달적 문제로 인해 물리적 속박의 방법 하에 외래에서 치료되었다. 이 증례를 통해 SMS라는 희귀한 증후군에 관하여 보고하고자 한다.

• 대한소아치과학회지
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• 제36권2호
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• pp.298-304
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• 2009

X-linked hypophosphatemic rickets(이하 XLH로 기술)는 구루병의 일종으로 임상적으로는 비타민 D의 대량 투여로도 개선되지 않고 성염색체 우성 유전되는 유전성 질환이다. 저인산혈증성 구루병, 비타민 D저항성 구루병이라고도 불린다. 본 증례는 서울대학교병원 소아과에서 XLH로 진단받은 6세 6개월의 여아로, 상악 좌측 중절치의 매복을 주소로 소아치과에 의뢰된 환자이다. 환아는 XLH환자에서 전형적으로 보이는 보행 장애, 다리의 휨현상 작은 키, 손목, 무릎, 발목 관절의 종창 등이 관찰되었다. 또 치과적 특징으로 임상적으로 건전한 치아에서 자발적인 치근단 농양과 농루가 발생하였고 치아의 맹출 지연, 우상치 (taurodontism), 근단공의 폐쇄 지연, 확대된 치수강 등을 나타내었기에 이전 문헌 고찰을 통하여 XLH 환아의 특징을 살펴보고 본 환자의 의과적, 치과적 특성 및 매복된 치아의 치료에 대하여 보고하는 바이다.

• Asian-Australasian Journal of Animal Sciences
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• 제23권1호
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• pp.1-6
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• 2010

The objectives of this study were to i) investigate genetic performance for linear type traits of individual Holstein dairy cows, especially focusing on comparative traits, and to estimate genetic variances for these traits using actual data, and ii) compare genetic performance and improvement of progeny by birth country of the cows. Linear type traits defined with five comparative traits on this study were general stature composite (GSC), dairy capacity composite (DCC), body size composite (BSC), foot and leg composite (FLC), and udder composite (UDC). These traits were scored from 1 to 6 with 1 = poor, 2 = fair, 3 = good, 4 = good plus, 5 = very good and 6 = excellent. Final scores (FS) were also included in this study. Data used was collected from the years 2000 to 2004 by the Korea Animal Improvement Association (KAIA). Only data of more than five tested cows by herd appraisal date and by sires having more than ten daughters were included to increase the reliability of the data analyses. A total of 30,204 records of the selected traits, which was collected from 26,701 individuals having pedigree information were used. Herd appraisal date, year of age, lactation stage (grouped by month), and time lagged for milking (in hours) were assumed as fixed effects on the model. Animal additive genetic effects considering pedigree relationship and residual errors were assumed with random effects. Year of age at appraisal date was classified from one to nine years of age, assigning the value of nine years of age for animals that were greater than or equal to nine years of age. From our results, the estimate for heritability was 0.463, 0.346, 0.473, 0.290, and 0.430 on GSC, DCC, BSC, FLC and UDC, respectively. The estimate for FS heritability was 0.539. The greatest breeding values for GSC were estimated for Canada, with the breeding values for American lines increasing for 10 years starting in 1989 but tending to decrease after that until 2004. For DCC, the breeding values for American and Canadian lines showed similar patterns until 1999, after which the breeding values for the American lines declined sharply. For BSC, data from Korea, Canada and the USA followed similar trends overall except when the breeding values of the American lines decreased starting in 1999. Overall, the methods used to evaluate genetic performance in this study were acceptable and allowed for the discovery of differences by country of genetic origin, likely due in part to the American use of selection indexes based primarily on milk yield traits until methods for evaluating other traits began to emerge.

• 한국항공운항학회지
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• 제12권3호
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• pp.41-63
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• 2004

The area covered by product liability in broadest sense is so vast that an attempt to analyse all its impact on the aviation world risk. Every effort has been made to confine our review of subject a closely as possible to its influence on aircraft manufacturers, airlines and passengers, in spite of strong connections with other spheres of commercial. Product Liability in aviation is the liability of aircraft's manufacturer, processor or non-manufacturing seller for injury to the person or property of a buyer or third party caused by a product which has been sold. Here-in a product is aircraft, third party is passengers who suffered damage by defective design, defective construction, inadequate instructions for handling in aircraft. Whenever a product turns out to be defective after it has been sold, there are under Anglo-American law three remedies available against the aircraft's manufacturer (1) liability for negligence (2) breach of warranty (3) strict liability in tort. There are Under continental law Three remedies available against the aircraft's manufacturer (1) liability for defective warranty (2) liability for non-fulfillment of obligation (3) liability in tort. It is worth pointing out here an action for breach of warranty or for defective warranty, for non-fulfillment of obligation is available only to direct purchaser on the basis of his contract with the aircraft's manufacturer, which of course weakness its range and effectiveness. An action for tort offers the advantage of being available also to third parties who have acquired the defective product at a later stage. In tort, obligations are constituted not only by contract, but also by stature and common law. In conclusion, There in no difference in principle of law. In conclusion I would like to make few suggestions regarding the product liability for aircraft's manufacturer. Firstly, current general product liability code does not specify whether government offices(e.g. FAA) inspector conducted the inspection and auditory certificate can qualify as conclusive legal evidence. These need to be clarified. Secondly, because Korea is gaining potential of becoming aircraft's manufacturer through co-manufacturing and subcontracting-manufacturing with the US and independent production, there needs legislation that can harmonize the protection of both aircraft's manufacturers and their injured parties. Since Korea is in primary stage of aviation industry, considerate policy cannot be overlooked for its protection and promotion. Thirdly, because aircraft manufacturers are risking restitution like air-carriers whose scope of restitution have widened to strict and unlimited liability, there needs importation of mandatory liability insurance and national warranty into the product liability for aircraft's manufacturers. Fourthly, there needs domestic legislation of air transportation law that clearly regulates overall legal relationship in air transportation such as carrier & aircraft manufacturer's liability, and aviation insurance.

• 동의생리병리학회지
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• 제18권6호
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• pp.1762-1768
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• 2004

The Korean formula medicine, Gami-Yukmi-Jihwang-Tang (GYJT) has been used for growing slowly, short of stature, incomplete development, fatigue, weak child, growing pain of child. However, it is still unclear how GYJT has an effect on experimental models. In the present study, the author investigated the immune-enhancing effect of GYJT. Forced swimming test (FST) was performed as a model of activity test in mice and measured blood urea nitrogen (BUN), aspartate aminotransferase (AST), alanine aminotransferase (ALT), lactic dehydrogenase (LDH), glucose (Glc) and total protein (TP) in the serum. GYJT (1, 0.1 and 0.01 g/㎏) were orally administered to mice, once per day for 7 days using a feeding atraumatic needle. After 3 days, on FST, the immobility time was significantly decreased in the GYJT (0.01g/㎏/day)-fed group (120.75±5.71s) in comparison with the saline-fed group (153.80±10.74s). After 7 days, the immobility time was significantly decreased in the GYJT (0.1 and 0.01g/㎏/day)-fed group (125.67±5.36s and 107.67±3.71s) in comparison with the saline-fed group (167.67±12.99s). In addition, the contents of BUN and Glc in the blood serum were significantly decreased and the contents of AST, ALT and LDH were also decreased in the GYJT (1g/㎏/day)-fed group. However, the content of TP was not changed. The present results suggest that GYJT may be useful for the anti-fatigue and immune-enhancing agent. Also, the author investigated the effect of GYJT on the production of cytokines in human T-cell line, MOLT-4 cells. However, GYJT has not affected the production of IFN­γ, IL-2, IL-4. These results suggest that GYJT has immune-enhancing effect but does not affect T cell-mediated production of cytokines in the immune function improvement.