• ETRI Journal
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• 제44권4호
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• pp.613-623
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• 2022

Autism spectrum disorder (ASD) is a developmental disorder associated with cognitive and neurobehavioral disorders. It affects the person's behavior and performance. Autism affects verbal and non-verbal communication in social interactions. Early screening and diagnosis of ASD are essential and helpful for early educational planning and treatment, the provision of family support, and for providing appropriate medical support for the child on time. Thus, developing automated methods for diagnosing ASD is becoming an essential need. Herein, we investigate using various machine learning methods to build predictive models for diagnosing ASD in children using facial images. To achieve this, we used an autistic children dataset containing 2936 facial images of children with autism and typical children. In application, we used classical machine learning methods, such as support vector machine and random forest. In addition to using deep-learning methods, we used a state-of-the-art method, that is, automated machine learning (AutoML). We compared the results obtained from the existing techniques. Consequently, we obtained that AutoML achieved the highest performance of approximately 96% accuracy via the Hyperpot and tree-based pipeline optimization tool optimization. Furthermore, AutoML methods enabled us to easily find the best parameter settings without any human efforts for feature engineering.

• 대한감각통합치료학회지
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• 제16권3호
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• pp.34-49
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• 2018

목적 : 본 연구는 아동용 작업의지 측정도구(Pediatric Volitional Questionnaire; PVQ)을 국내에서 사용하기 위해 4단계 번역과정을 실시하고, 이에 따른 타당도 및 신뢰도검증, 질적 해석을 통한 국내 적용가능성 및 방향성의 사전연구를 실시하는 것이다. 연구방법 : 연구대상자는 대전에 거주하고 있는 만 2세~5세의 일반아동 10명과 신경발달장애 아동 10명으로 총 20명이 대상이며, 편의 표본 추출법이 사용되었다. 번역과정은 번역, 역번역 검증, 이해도 검증 및 번역검증위원회 과정을 거쳤다. 타당도 및 신뢰도 검증을 위해 내용타당도, 판별타당도, 수렴타당도, 내적일치도, 질적 해석을 진행하였다. 결과 : 내용타당도를 알아보기 위한 문항 적합도에서 .78이상의 결과가 나타났으며, 판별타당도에서 일반아동그룹의 총점이 통계적으로 높았다(p<.05). 수렴타당도는 한국판 아동용 작업의지 측정도구(Pediatric Volitional Questionnaire-Korean version; PVQ-K)의 성취영역과 한국 영유아 발달선별검사(Korean Developmental Screening Test for Infants & Children; K-DST)(하위 범주 간 상관관계 .652 ~ .799, 총점 .706)사이에 통계적으로 유의한 결과가 나타났다. 모든 항목에 대한 내적일치도(Cronbach's ${\alpha}$)는 .944로 나타났다. 질적 해석을 통해 아동이 환경에서 어떻게 행동하고 반응하는지 관찰하고 무엇에 의해 작업의지가 강화되거나 약화되는지를 알아보았다. 결론 : 본 연구는 한국판 아동용 작업의지 측정도구가 작업-초점 측정에 유용하게 사용될 수 있다는 초기 근거를 제공하며, 추후 문항반응 이론(item-response theory) 및 더 큰 표본을 통한 한국판 아동용 작업의지 측정도구의 추가 개발이 필요하다.

• 대한유전성대사질환학회지
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• 제18권2호
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• pp.35-42
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• 2018

목적: 한국 유전학 연구소에서 실시한 광범위 신생아 스크리닝 검사(Newborn screening, NBS)로 진단된 선천성 대사질환 및 내분비질환을 가진 한국인 환아의 추적 관찰 및 장기적인 예후를 평가하기 위하여 본 연구를 시작하였다. 방법: 2000년 1월부터 2017년 12월까지 태어난 283,626명의 신생아를 대상으로 하였으며 출생 48시간 이후에 발뒤꿈치, 혹은 정맥혈액을 채취하여 특수여과지에 묻혀 건조시켰다. 건조 혈액여지를(Dried blood spot, DBS) 이용하여 탠덤 질량 분석법과 형광 면역 측정법을 사용하여 광범위 신생아 스크리닝 검사(NBS)를 실시하였다. 신생아 스크리닝 선별검사 프로그램은 갈락토오스 혈증, 선천성 갑상선 기능 저하(Congenital hypothyroidism, CH), 선천성 부신 과형성증(Congenital adrenal hyperplasia, CAH), 아미노산, 지방산 및 유기산 대사질환등 예방 가능한 질환 50여종을 선별하여 검사를 시행하였다. 결과: 광범위 신생아 스크리닝 검사(Extended NBS)를 통해 아미노산 대사질환 28예, 유기산 대사질환 75예, 지방산 대사질환 27예, 요소회로 대사질환 51예, CH 127예, CAH 14예, 갈락토스혈증 15예가 선별하여 확진검사로 진단되었다. 아미노산 대사 장애, 갈락토스혈증, CH, CAH 환자는 조기에 발견 치료 할 경우 예후가 더 좋았다. 단풍당뇨(MSUD) 환아에서는 조기 진단 치료로 90% 이상이 정상 성장 발달을 보였다. 그러나 유기산 혈증 환아에서는 32%에서 발달 지연 및 신경학적 휴유증이 관찰되었다. 지방산 대사 질환에서는 다양한 결과가 나타났다. 단쇄지방산(SCAD, EMA)와 중쇄지방산(MCA, MCAD) 환자는 예후가 좋았으나 초장쇄지방산(VLCAD) 환자는 대부분 심각한 신경학적 장애를 보이거나 사망하였다. 요소회로 대사질환(UCD) 환아는 조기진단과 치료에도 불구하고 75%가 심각한 신경학적 합병증과 높은 사망률을 경험했다. 결론: 전국적인 신생아 스크리닝(NBS) 프로그램은 국가적인 차원에서 전국민을 대상으로 포괄적인 검사, 관리, 치료가 필요하다. 이를 위하여 숙련된 의료진과 환아의 부모 혹은 관련된 가족에 대한 특수교육이 필요하다.

• Toxicological Research
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• 제18권1호
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• pp.13-22
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• 2002

In Korea, 2,320 tonnes of acetanilide were mostly wed as intermediates for synthesis in phar-maceuticals or additives in synthesizing hydrogen peroxide, varnishes, polymers and rubber. Only small amount of 120 kg were wed as a stabilizer for hydrogen peroxide solution for hair colouring agents in 1998. Readily available environmental or human exposure data do not exist in Korea at the present time. However, potential human exposures from drinking water, food, ambient water and in work places are expected to be negligible because this chemical is produced in the closed system in only one company in Korea and the processing factory is equipped with local ventilation and air filtering system. Acetanilide could be distributed mainly to water based on EQC model. This substance is readily biodegradable and its bioaccumulation is low. Acute toxicity of acetanilide is low since the L $D_{50}$ of oral exposure in rats is 1,959 mg/kg bw. The chemical is not irritating to skin, but slightly irritating to the eyes of rabbits. horn repeated dose toxicity, the adverse effects in rats were red pulp hyperplasia of spleen, bone marrow hyperplasia of femur and decreased hemoglobin, hematocrit and mean corpuscular hemoglobin concentration. The LOAEL for repeated dose toxicity in rats was 22 mg/kg/day for both sexes. Acetanilide is not considered to be genotoxic. In a reproductive/developmental toxicity study, no treatment-related changes in precoital time and rate of copulation, impregnation, pregnancy were shown in all treated groups. The NOAELs for reproduction and developmental toxicity (off-spring toxicity) are considered to be 200 mg/kg bw/day and 67 mg/kg bw/day, respectively. Ecotoxicity data has been generated in a limited number of aquatic species of algae (72 hr- $E_{b}$ $C_{50}$; 13.5 mg/l), daphnid (48hr-E $C_{50}$ > 100 mg/l) and fish (Oryzias latipes, 96hr-L $C_{50}$; 100 mg/l). Form the acute toxicity values, the predicted no effect concentration (PNEC) of 0.135 mg/1 was derived win an assessment factor of 100. On the basis of these data, acetanilide was suggested as currently of low priority for further post-SIDS work in OECD.in OECD.D.

• 대한감각통합치료학회지
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• 제9권1호
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• pp.21-31
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• 2011

목적 : 학령전기 아동의 글씨 쓰기 명료도 및 속도와 지각-운동 기술의 상관관계를 확인하고, 글씨 쓰기에 가장 영향을 주는 요인을 알아보고자 하였다. 연구방법 : 덴버 발달 선별 검사를 통하여 정상 발달로 선별된 23명의 학령 전기 아동(평균 연령=68.61개월, SD=2.04)을 대상으로 글씨 쓰기 명료도 및 속도 측정을 위하여 한글 자모 쓰기 검사지를 사용하여 자음과 모음을 쓰도록 하였다. 시지각과 시각-운동 통합 수행 능력 측정을 위하여 시지각 발달 검사를 사용하였고, 소운동 협응 수행 능력 측정을 위하여 Grooved pegboard test를 사용하였다. 결과 : 글씨 쓰기 명료도와 전반적인 시지각, 비운동성 시지각, 시각-운동 통합, 우세손 소동작 협응의 상관관계는 없었으며, 글씨 쓰기의 속도는 전반적 시지각과 우세손 소동작 협응 항목에서 유의한 상관관계를 보였다. 회귀 분석 결과 글씨 쓰기 속도에 가장 큰 영향을 주는 요인은 전반적 시지각 항목이었다. 결론 : 만 5~6세 학령 전기 아동의 전반적 시지각 능력의 발달을 향상시키기 위한 중재를 제공하는 것이 글씨 쓰기의 속도 능력을 향상 시킬 수 있다는 것을 알 수 있다.

• 농촌의학ㆍ지역보건
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• 제16권1호
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• pp.61-69
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• 1991

Serodiagnosis of Clonorchis sinensis infections will probably be a first choice tool for screening of clonorchiasis in a future because of increasing difficulties in collection and examination of stools. The sensitive test such as ELISA can he used effectively. However there are some limitations in serological diagnosis for the detection of serum antibody. One of the major problems is the non-specificity of the antigens which produce cross reaction with other helminthic infection sera. To solve this problem. many investigators have tried to purify the antigens used. In this study, we determined the antigenic profile of the crude saline extract antigen of C. sinensis at early developmental stage based on SDS-PAGE and immunoblotting techniques for the purpose of understanding the nature of C. sinensis worm antigen The following results were obtained : 1) The SDS-PAGE showed many protein hands ranging from 10Kd to 91Kd relative molecular weight. Among them, 66, 46, 40, 33, 27, 24, 16, 14 and 10Kd bands were observed as a principle bands. The protein components of C. sinensis changed chronologically during their early developmental period. 44Kd band was stained unclearly in antigen of 2 weeks worm, but changed to concentrated state in antigen of 5 weeks worm. 35Kd band was found in antigen of 2 weeks worm, however this band was disappeared in antigen of 5 weeks worm. 22Kd band also lost its staining property gradually. 2) In spite of differences in antigenic profile, there was no differences in the data obtained by microplate ELISA using each antigen preparation. Absorbance value began to rise in between 2 to 3 weeks after infection. 3) By EITB. serum antibody recognized major protein bands with molecular weight of 91, 85, 63, 46, 40, 33, 24, 14 and 10Kd hand respectively. Among them 66, 33, 17 and 14Kd bands were observed as non-specific band because they reacted even in normal control sera. Generally, gradual increase of positive reactions were observed as the infection period of C. sinensis was prolonged. In other hand, the reaction of 10Kd hand did not occurred when 26th week sera was tested. 4) The positive reactions using antigens of 2 weeks worm, especially on 40 and 24Kd bands, were most strong and sharply demarcated compared to those of 3~5 weeks worm antigen.

• Animal Bioscience
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• 제35권9호
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• pp.1340-1350
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• 2022

Objective: Luxi Black Head sheep (LBH) is the first crossbreed specialized for meat production and was developed by crossbreeding Black Head Dorper sheep (DP) and Small Tailed Han sheep (STH) in the farming areas of northern China. Research on the genomic variations and selection signatures of LBH caused by continuous artificial selection is of great significance for identifying the genetic mechanisms of important traits of sheep and for the continuous breeding of LBH. Methods: We explored the genetic relationships of LBH, DP, and several Mongolian sheep breeds by constructing phylogenetic tree, principal component analysis and linkage disequilibrium analysis. In addition, we analysed 29 whole genomes of sheep. The genome-wide selection signatures have been scanned with four methods: heterozygosity (H_P), fixation index (F_ST), cross-population extended haplotype homozygosity (XP-EHH) and the nucleotide diversity (𝜃_π) ratio. Results: The genetic relationships analysis showed that LBH appeared to be an independent cluster closer to DP. The candidate signatures of positive selection in sheep genome revealed candidate genes for developmental process (HoxA gene cluster, BCL2L11, TSHR), immunity (CXCL6, CXCL1, SKAP2, PTK6, MST1R), growth (PDGFD, FGF18, SRF, SOCS2), and reproduction (BCAS3, TRIM24, ASTL, FNDC3A). Moreover, two signalling pathways closely related to reproduction, the thyroid hormone signalling pathway and the oxytocin signalling pathway, were detected. Conclusion: The selective sweep analysis of LBH genome revealed candidate genes and signalling pathways associated with developmental process, immunity, growth, and reproduction. Our findings provide a valuable resource for sheep breeding and insight into the mechanisms of artificial selection.

• IMMUNE NETWORK
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• 제21권5호
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• pp.34.1-34.16
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• 2021

Sjögren's syndrome (SS) is an autoimmune disease characterized by dryness of the mouth and eyes. The glandular dysfunction in SS involves not only T cell-mediated destruction of the glands but also autoantibodies against the type 3 muscarinic acetylcholine receptor or aquaporin 5 (AQP5) that interfere with the secretion process. Studies on the breakage of tolerance and induction of autoantibodies to these autoantigens could benefit SS patients. To break tolerance, we utilized a PmE-L peptide derived from the AQP5-homologous aquaporin of Prevotella melaninogenica (PmAqp) that contained both a B cell "E" epitope and a T cell epitope. Repeated subcutaneous immunization of C57BL/6 mice with the PmE-L peptide efficiently induced the production of Abs against the "E" epitope of mouse/human AQP5 (AQP5E), and we aimed to characterize the antigen specificity, the sequences of AQP5E-specific B cell receptors, and salivary gland phenotypes of these mice. Sera containing anti-AQP5E IgG not only stained mouse Aqp5 expressed in the submandibular glands but also detected PmApq and PmE-L by immunoblotting, suggesting molecular mimicry. Characterization of the AQP5E-specific autoantibodies selected from the screening of phage display Ab libraries and mapping of the B cell receptor repertoires revealed that the AQP5E-specific B cells acquired the ability to bind to the Ag through cumulative somatic hypermutation. Importantly, animals with anti-AQP5E Abs had decreased salivary flow rates without immune cell infiltration into the salivary glands. This model will be useful for investigating the role of anti-AQP5 autoantibodies in glandular dysfunction in SS and testing new therapeutics targeting autoantibody production.

• 원예과학기술지
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• 제17권1호
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• pp.7-10
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• 1999

배추의 약(anther) 발달에 관여하는 유전자를 분리, 특성을 구명하고, 궁극적인 목표로는 특이 발현을 조절하는 프로모터를 분리 작물의 웅성불임 유기 및 임성화복에 응용하고자 본 연구를 수행하였다. 배추 약 cDNA 유전자 은행으로부터 차별화 선별(differential screening)에 의해 얻어진 15개의 약특이 유전자들의 부분 염기서열 결정 후 기존에 보고된 유전자들과 상동성 검색을 통해 그 기능을 추정해 본 결과 cDNA clone BAN52는 polygalacturonase, BAN84는 ascorbate oxidase, BAN101은 $H^+-translocating$ ATPase, BAN2는 pectin esterase 유전자와 상동성을 보였으나, 그 외 유전자들은 상동성이 없어 그 기능을 추정할 수 없었다. 상기 유전자들의 발현시기를 꽃 발달 시기별로 조사한 결과 대부분의 유전자들이 (BAN5, 10, 33, 52, 57, 102, 103, 215, 229) 꽃봉오리 2.1mm 내외에서 발현이 시작하여 성숙화분까지 그 발현양이 증가하였고, BAN32, 54, 62, 84, 101는 꽃봉오리 3.9mm인 약발달 후기부터 나타났고, BAN87 유전자는 그 양은 적지만 약 발달 초기부터 후기까지 발현하였다.

• Reproductive and Developmental Biology
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• 제30권2호
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• pp.81-85
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• 2006

This study was conducted to examine the effect of IRES controlled reporter gene on screening and production of recombinant human erythropoietin (EPO) proteins from cultured CHO cells. The cDNA was cloned for EPO from human liver cDNA Using site-directed mutagenesis, we generated recombinant human EPO (rhEPO) with two additional N-glycosylations (Novel erythropoiesis-stimulating protein: NESP). Wild type hEPO and NESP were cloned into expression vectors with GFP reporter gene under regulatory control of CMV promoter and IRES so that the vectors could express both rhEPO and GFP. The expression vectors were transfected to cultured CHO-K1 cells. Under microscopy, expression of GFP was visible. Using supernatant of the culture, ELISA assay, immunocytochemistry and in vitro assay using EPO dependant cell line were performed to estimate biological activity to compare the production characteristics (secretion levels, etc.) between rhEPO and NESP. The activity of NESP protein, obtained by mutagenesis, was described and compared with its rhEPO counterpart produced under same conditions. Although NESP had less secretion level in CHO cell line, the biological activity of NESP was greater than that of rhEPO. These results are consistent with previous researches. We also demonstrated that rhEPO and GFP proteins expressed simultaneously from transfected CHO cell line. Therefore we conclude that use of GFP reporter gene under IRES control could be used to screen and produce rhEPO in cultured CHO cells.