• Journal of The Korean Society of Inherited Metabolic disease
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• v.15 no.2
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• pp.93-97
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• 2015

Short-chain acyl-CoA dehydrogenase (SCAD) deficiency is an autosomal recessive hereditary metabolic disorder of mitochondrial fatty acid beta-oxidation. Mutations in the ACADS gene cause short-chain acyl-CoA dehydrogenase deficiency, which is characterized by developmental delay, hypotonia, seizure, and hypoglycemia. Here, we describe one Korean pediatric case of SCAD deficiency, which was diagnosed during newborn screening by tandem mass spectrometry and confirmed by molecular analysis. The level of C4 was typically elevated 5.23 mg/dL (reference range <1.5 mg/dL). This patient had a homozygous mutation [c.1031A>G, p. E344G] in ACADS. Therefore, we present a case of SCAD deficiency in an otherwise healthy neonate and her subsequent development and growth over four years.

• The Journal of Internal Korean Medicine
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• v.25 no.4
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• pp.18-24
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• 2004

연구배경 : 플라스미노겐 활성 억제인자-1 (plasminogen activator inhibitor-1; PAI-1)은 허혈성 뇌경색의 발생의 원인이 되는 섬유소 용해작용의 저하를 매개하는 인자로서, PAI-1의 작용이 촉진되면 섬유소 용해기능이 저하되어 관상동맥 및 뇌혈관질환의 발생을 증가시키게 된다. PAI-1 유전자의 촉진자(promoter) 영역에는 -675 4G/5G (4G/5G)와A -844G (A/G)의 두 개의 유전자 다형성이 존재하며, 이는 PAI-1의 유전자 전사과정에 영향을 미쳐 혈청 PAI-1의 농도를 증가시키고 결과적으로 허혈성 뇌경색의 발생확률을 높이는 작용을 하게 된다. 연구방법 : 허혈성 뇌경색으로 진단 받은 167명의 환자와 173명의 건강인의 말초혈액에서 DNA를 분리한 후 PAI-1의 4G/5G와 A/G 유전자 다형성에 대한 연쇄중합반응 및 제한효소 절편길이 다형성 (polymerase chain reaction-restriction fragment length polymorphism; PCR-RFLP) 방법을 이용하여 허혈성 뇌경색 발생과 유전자 다형성과의 관계를 비교 분석하였다. 결과 : 허혈성 뇌경색 환자에서의 4G/4G의 유전자형의 빈도는 15.0%으로 정상 대조군의 33.5%에 비해 현저하게 낮게 나타났다 (P < 0.0001). 각각의 유전자형과 허혈성 뇌경색의 발생 위험도 (odd ratio ; OR)와의 관계를 분석했을 때 4G/4G 유전자형을 가질 경우 위험도는 0.35배로 현저하게 낮아졌으며, (P < 0.0001), 5G/5G 유전자형을 가질 경우 위험도는 4.49배 로 현저하게 높아졌다 (P < 0.0001). 그러나, A/G 유전자 다형성과 허혈성 뇌경색의 발생과는 유의한 연관성을 발견하지 못하였다. 결론 : 이상의 결과로 볼 때 PAI-1 유전자의 4G/4G 유전자형은 허혈성 뇌경색의 발생 비율을 감소시키는 작용을 하는 것으로 여겨진다.

• Journal of Animal Science and Technology
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• v.48 no.1
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• pp.29-38
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• 2006

The objective of this study was to estimate genetic variances of growth curve parameters in Hanwoo cows. The data used in this study were records from 1,083 Hanwoo cows raised at Hanwoo Experiment Station, National Livestock Research Institute(NLRI). First evaluation model(Model I) fit year-season of birth and age of dam as fixed effects and second model(Model II) added age at the final weight as a linear covariate to Model I. Heritability estimates of A, b and k from Gompertz model were 0.22, 0.11 and 0.07 using modelⅠ and 0.28, 0.11 and 0.12 using modelⅡ. Those from Von Bertalanffy model were 0.22, 0.11 and 0.07 using modelⅠ, 0.28, 0.11 and 0.12 using modelⅡ. Heritability estimates of A, b and k from Logistic model were 0.14, 0.07 and 0.05 using modelⅠ, 0.18, 0.07 and 0.12 using modelⅡ. Heritability estimates of A from Gompertz model were higher than those from Von Bertalanffy model or Logistic model in both model Ⅰand model Ⅱ. Heritability estimates of b from Logistic model were higher than those from Gompertz model or Von Bertalanffy model in both modelⅠand model Ⅱ. Heritability estimates of birth weight, weaning weight, 3 month weight, 6 month weight, 9 month weight, 12 month weight, 18 month weight, 24 month weight, 36 month weight were after linear age adjustment 0.27, 0.11, 0.19, 0.14, 0.16, 0.23, 0.52 and 0.32, respectively. Heritability estimates of birth weight, weaning weight, 3 month weight, 6 month weight, 9 month weight and 24 month weight fit by Gompertz model were larger than those estimated from linearly adjusted data. Heritability estimates of 12 month weight, 18 month weight and 36 month weight fit by Von Bertalanffy model were larger than those estimated from linearly adjusted data. In the multitrait analyses for parameters from Gompertz model, genetic and phenotypic correlations between A and k parameters were －0.47 and －0.67 using modelⅠand －0.56 and －0.63 using model Ⅱ. Those between the A and b parameters were 0.69 and 0.34 using modelⅠand 0.72 and 0.37 using model Ⅱ. Those between the b and k parameters were －0.26 and 0.01 using modelⅠand －0.30 and 0.01 using model Ⅱ. In the multitrait analyses for parameters from Von Bertalanffy model, genetic and phenotypic correlations between A and k parameters were －0.49 and －0.67 suing model Ⅰ and －0.57 and －0.70 using modelⅡ. Those between the A and b parameters were 0.61 and 0.33 using modelⅠ and 0.60 and 0.30 using model Ⅱ. Those between the b and k parameters were －0.20 and 0.02 using modelⅠ and 0.16 and 0.00 using modelⅡ. In the multitrait analyses for parameters from Logistic model, genetic and phenotypic correlations between A and k parameters were －0.43 and －0.67 using model Ⅰ and －0.50 and －0.63 using modelⅡ. Those between the A and b parameters were 0.47 and 0.22 using modelⅠ and 0.38 and 0.24 using modelⅡ. Those between the b and k parameters were －0.09 and 0.02 using model Ⅰ and －0.02 and 0.13 using model Ⅱ.

• Journal of the korean veterinary medical association
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• v.44 no.9
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• pp.803-818
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• 2008

동물의 결핵은 Mycobacterium bovis의 감염에 의한 만성 소모성 질병이며 인수공통전염병이다. 동물로부터 사람으로의 결핵 전염은 생유 섭취하던 시대에 상당히 많이 보고되었다. 우유의 살균처리와 소에서 피내진단에 의한 양성우 살처분 및 보상금 지급 정책을 전개하면서 M. bovis의 사람전염은 급격히 감소하였다. 소 결핵은 우리나라에서 연간 0.15% 내외의 발생을 보이고 있으며, 발생의 주원인으로는 외부입식소, 인근발생농장, 과거발생농장의 사후관리소홀 등이다. 사람 결핵의 주원인균인 M. tuberculosis와 M. bovis는 유전체가 99.9% 유사하며, M. bovis를 M. tuberculosis의 아종으로 분류하기도 한다. 두 세균은 M. tuberculosis complex에 속하며, M. tuberculosis와 M. bovis이외에도 M. africanum, M. canettii, M. microti, M. pinnipedii 등이 있다. M. bovis는 M. tuberculosis complex중에서 가장 넓은 숙주범위를 가진다. M. bovis의 대표적인 숙주는 종이름에도 나타나 있듯이 소이다. 소결핵 전파원으로서는 M. bovis에 감염된 소가 가장 중요하다. 소 이외에도 면양, 산양, 말, 돼지, 사슴, 엘크, 영양 (antelope, kudus, elands, sitatungas, oryxes, addaxes), 개, 고양이, 흰족제비 (ferrets), 낙타, 여우, 밍크, 오소리, 쥐, 영장류, 라마, 맥 (tapirs), 코끼리, 코뿔소 (rhinoceroses), 주머니쥐, 땅다람쥐 (ground squirrels), 수달 (otters), 물개, 산토끼 (hares), 두더쥐 (moles), 너구리 (raccoons), 코요테, 사자, 호랑이, 표범, 살쾡이 (lynx) 등에 감염될 수 있으나, 대부분 종결숙주 (spillover host)로 가축의 결핵방제가 유지되고 있는 국가에서는 야생동물 결핵의 가축 전염이 문제시되고 있다. M. bovis는 주로 호흡기와 소화기를 통하여 감염되며, 결핵결절이 형성되는 부위를 관찰하면 감염경로를 추정할 수 있다. 결핵에 감염되면, 초기에는 뚜렷한 임상증상을 보이지 않으나, 아침, 추운 날씨, 또는 운동 중에 심한 기침을 하며, 호흡곤란을 일으킬 수 있다. 결핵은 감염되어도 대부분 무증상이기 때문에 피내진단, 결핵결절 병리소견, 원인균 분리 등에 의해 진단하여야 한다. 감염된 결핵균은 탐식세포에 탐식되어 특징적인 육아종성 결절 병변으로 진행된다. 현재 결핵은 피내진단과 결핵결절 병리소견 등에 의해 판정하고 있다. 최신 진단법으로는 피내진단을 대체할 수 있는 인터페론 감마 검사법과 우군의 결핵 스크리닝과 말기 결핵 검사에 우수한 항체진단법이 개발되어 있다. 그러나, 소 결핵 근절을 위해서는 일관성있는 진단법과 진단기준을 적용하는 것이 중요한 성공요인중 하나이다. 소결핵 청정국인 호주와 캐나다에서는 피내진단과 도축장 결절검사를 결핵 양성우 색출방법의 근간으로 삼고 있으며, 소결핵 근절의 최종단계에 이르러서는 특이적인 검사법을 적용하였지만, 근절목적상 민감성이 높은 피내진단법을 사용하였다. 이와 더불어, 피내진단 양성우의 부검소견과 원인균 분리를 통해 결핵을 확진하여 출처농장의 역추적 검사를 통하여 결핵 양성소를 제거하였다. 한편, 결핵의 농장간 및 지역간 전파방지를 위해 결핵 청정농장과 결핵 오염농장, 결핵 청정지역과 결핵 오염지역 구분을 통하여 결핵 오염농장과 결핵 오염지역으로부터 결핵 청정농장과 결핵 청정지역으로의 이동전 결핵 검진을 통해 개체 이동에 따른 결핵 전파를 근본적으로 차단하는 시스템을 엄격히 적용한 것이 주요한 성공 요인중 하나였다. 호주 결핵 근절정책 성공요인을 요약하면, 일관성 있는 결핵진단법 적용, 양성우 출처농장의 철저한 역추적 검사, 개체 이동전 결핵 음성증명 확인, 농가단체의 경제적 및 방역상 적극적인 지원 및 협조 결핵의 지속적인 모니터 링과 현장요구에 부응하는 방제신기술의 지속적인 연구개발 등을 들 수 있다. 최근 들어 국내 동물 결핵은 소, 특히, 한우의 결핵발생이 증가하고 있으며, 사슴 결핵발생도 증가하고 있다. 농장간 및 지역간에 결핵 감수성 가축, 특히, 소와 사슴의 거래가 아주 복잡하게 이루어지고 있는 현실을 고려할 때, 결핵전파의 주원인인 결핵감염 소나 사슴의 농장내 반입을 철저히 차단해야 할 것이다. 이때, 개체 검사는 물론이고, 출처농장에 대한 결핵 음성을 확인한 후 입식하여야 할 것이며, 입식 후에도 60일정도 격리사육하면서 피내진단등 결핵검진 후 음성인 경우에만 합사하여야 할 것이다. M. bovis는 사람을 비롯한 거의 모든 온혈동물에서 결핵을 일으킬 수 있기 때문에, 결핵 감염소로 판정된 농장 종사자는 각 시도 보건소의 협조를 받아 결핵검진을 받도록 해야 한다. 농장 가축에 접촉할 수 있는 야생동물의 접촉을 차단하여야 하며, 특히, 농장 사료의 야생동물에 의한 오염을 방지할 수 있는 사료창고관리를 철저히 해야 한다. 결핵 감염소를 다룰 때는 분비물 또는 가검물에 의해 감염될 수 있기 때문에 개인방역장비 - 방역복, 마스크, 비닐장갑, 비닐장화 - 를 착용한 상태에서 다루어야 한다. 특히, 결핵 감염소를 매몰 또는 소각하는 과정에서 결핵 감염소의 배설물 및 분비물 처리를 철저히 하여야 한다. 모든 작업을 마친 후에는 개인방역장비, 매몰 또는 소각에 사용하였던 장비 등을 청소 및 소독하고 필요시 소각 또는 매몰하여야 하며, 개인감염위험과 타인 감염위험을 방지하기 위해 노출부위를 세척하여야 한다.

• Journal of the Korean Society for Aeronautical & Space Sciences
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• v.48 no.8
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• pp.621-629
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• 2020

LRU layout is a complex problem that requires consideration of various criteria such as airworthiness, performance, maintainability and environmental requirements. As aircraft functions become more complex, the necessary equipment is increasing, and unmanned aerial vehicles are equipped with more equipment as a substitute for pilots. Due to the complexity of the problem, the increase in the number of equipment, and the limited development period, the placement of equipment is largely dependent on the engineer's insight and experience. For optimization, quantitative criteria are required for evaluation, but criteria such as safety, performance, and maintainability are difficult to quantitatively compare or have limitations. In this study, we consider the installation and maintenance of the equipment, simplify the deployment model to the traveling salesman problem, Optimization was performed using a genetic algorithm to minimize the weight of the connecting cable between the equipment. When the optimization results were compared with the global calculations, the same results were obtained with less time required, and the improvement was compared with the heuristic.

• Journal of the Korean Academy of Child and Adolescent Psychiatry
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• v.1 no.1
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• pp.27-39
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• 1990

The neural mechanisms involved in attention deficit hyperactivity disorder are largely unknown. In order to investigate the neuroanatomical lesions of attention deficit hyperactivity disorders and their relationships with psychopathology, Single Photon Emission Computed Tomography(SPECT) using HMPAO was performed in 46 ADHDS and Yale Children's Inventory(YCI), Conners Parent Questionaire and DSM-III-R Questionaire for Disruptive Behavior Disorder were used to assess the psychopathology of ADHDS The results are summarized as follows; 1) 30.4% (14/46) of this series revealed decreased perfusion In SPECT. 2) Regions of hypoperfusion were seen in cerebral cortex(17.4%, 8/46), thalamus(13.0%, 6/46), deep gray matter(8.7%, 4/46), basal ganglia(6.5%, 3/46) and cerebellum(2.2%, 1/ 46). 3) The mean scores of the total YCI revealed significant difference between the two groups(SPECT abnormal versus normal group), and among the subscales, hyperactivity, language and fine-motor subscales showed significant differences between the two groups. Although the relationship between the abnormal findings and specific symptom clusters of ADHDS remains unclear, we can suggest that these abnormal findings could be associated with ADHD, and based on these findings, the ADHDS can be subclassified into two groups. This study can be said to reinforce the current conception of heterogeneity of ADHD.

• Proceedings of the Korean Society for Food Science of Animal Resources Conference
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• 2000.11a
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• pp.59-75
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• 2000

This study was carried out to develop a DNA marker for identifying between Korean cattle (Hanwoo) and other breeds. First experiment was performed to isolate Hanwoo specific DNA marker at sequence characterized amplified regions (SCARs). Five breeds of cattle including Hanwoo, Holstein, Hereford, Angus and Charolais were represented with the from 8 to 20 individuals. Fourteen primers of 300 arbitrary primers of 10 nucleotides showed reproducible polymorphism across the breeds. An amplified band of 0.9 kb in the primer MG-3 showed the specificity to Holstein breed. And MG-6 and MG-12 detected the Hereford and Hanwoo specific markers at the size of 2.0 kb and 1.0 kb, respectively. A 1.0 kb band of MG-12 was cloned and sequenced. A SCAR primer was designed based on the obtained sequences. It was possible to identify the Hanwoo from Holstein breed. Second experiment was carried out to observe the genotype frequencies of MC1R in 1,044 samples of imported beef and eight different cattle breeds including Hanwoo, Holstein, Angus, Brown-Swiss, Charolais, Limousin, Simmental and Hereford. The primers for the amplification of bovine MC1R gene were designed based on a bovine MC1R gene sequence (GenBank accession no.Y19103). A size of 350 bp was amplified by polymerase chain reaction(PCR), digested with two different restriction enzyme, BsrFI and MspA II, and electrophoresed in 2.5% Metaphore agarose gel for determination of genotypes. Genotype frequencies of Hanwoo were 0.10 in E+e and 0.90 in ee. Allele ED was shown in all of Holstein and Angus breeds tested which have black coat color phenotypes. We suggested that SCAR marker and the bovine MC1R gene could be used as a DNA marker for distinguishing beef between Hanwoo and Holstein.

• Korean Journal of Biological Psychiatry
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• v.10 no.1
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• pp.45-53
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• 2003

Debates relevant to the etiology of weight gain or obesity, i.e., the dichotomous understandings about whether obesity arises from the genetic predisposition or from the environmental influences, has long existed. This is an important issue because it is related to the therapists's prejudice when treating patients with obesity. In this review, the authors first discuss the environmental and the genetic factors that cause the obesity, and in the latter part, the interactions between genetic and environmental factors will be discussed. This issue is considered and described especially in a conceptual aspect for the therapists ultimately to understand how the genetic and the environmental factors interact to arise obesity. Conclusively, obesity is best understood as a complex, multifactorial, and chronic disabled state, which cause an individual with genetic predispostion to obesity under the environmental influences. In future, in favor of the accumulated knowledge about the genetic and environmental impacts and their interactions in detail, we will be able to provide a client-specific management or prevention of obesity.

• Korean Journal of Psychosomatic Medicine
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• v.7 no.2
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• pp.213-225
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• 1999

Objectives : The purpose of this study was to investigate how the play habits, temperament, and environmental factors might affect childhood obesity. Methods : Two hundred sixty children, aged 4 through 6 years living in Seoul & Cheonan were surveyed by a questionnaire about the children's play habit and the parent's related factors such as weight, height, education, income. In addition the Korean version of the Parent Temperament Questionnaire for Children and the Korean version of the Family Environment Scale were also administered to parents of those children. The height and weight of those children were measured and the percentage of body fat was measured by Bioelectrical Impedance Fatness Analyzer. Result : 1) Among 260 children, 25 children were considered to be obese on the basis of both obesity index and percentage of body fat. 2) Parents of obese children showed a significantly higher educational level(p<0.05) and mothers of obese children had significantly more jobs(p<0.05) and showed higher body mass index(p<0.05) than those of nonobese children. 3) By observing play habits of children, obese children spent significantly longer time in watching TV and video(p<0.05), while nonobese children showed a trend to play outside(p<0.1). 4) On the Korean version of the Parent Temperament Questionnaire for Children, obese children showed significantly less activity than nonobese ones(p <0.05). 5) Family of obese children had significantly higher point on subscale of Achievement orientation, Intellectual-cultural orientation and Moral-religious emphasis of the Korean version of the Family Environment Scale(p<0.05). 6) Percentage of body fat of obese children was correlated with children's watching TV time, activity level, scores of Achievement orientation, Intellectual-cultural orientation of the Korean version of the Family Environment Scale and the both parent's education levels(p<0.05). Conclusion : Obese children showed hypoactivity and more watching TV time. And obese children's both parent had higher educational level and their mother had higher Body Mass Index and more jobs. Family of obese children had higher point on items of Achievement orientation, Intellectual-cultural orientation and Moral-religious emphasis. Family environmental factors influence on children's obesity through interaction of genetic and behavioral-psychological factors concomittently.

• Proceedings of the KSAR Conference
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• 2003.06a
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• pp.23-23
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• 2003

프리마틴(freemartin)이라 함은 반추동물들 중 특히 소에서 나타나는 간성(intersex)형태로 이성 쌍자의 경우 태어난 암컷의 대부분이 정상적인 자성 생식기의 발육 및 발생양상을 지니지 못하여 생식불능상태로 되는 것으로 알려져 있다. 최근 실용화된 수정란이식이나 쌍자유기 등의 기술은 현재 일반 농가에 까지 정책적으로 확대 보급되어 산업화되고 있는 실정이나 불행히도 이러한 기술들을 이용하여 생산된 개체들 중 상당수가 이성쌍자로 이들 중 암컷 개체들은 거의 freemartin으로 생산되어 실지 노력에 비해 경제적 효과들을 크게 반감시키고 있다. 뿐만 아니라 생산된 freemartin 개체들에 대하여 조기 진단 없이 다만 형태적으로 암컷으로 판단하여 번식우로 사양관리 함에 따른 경제적 손실이 매우 크다 할 수 있겠다.