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Prenatal Genetic Test (산전 유전자 검사)

  • Han, You-Jung;Ryu, Hyun-Mee
    • Journal of Genetic Medicine
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    • v.8 no.2
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    • pp.100-104
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    • 2011
  • Genetic testing has been generalized for the diagnosis of diseases and is an important method of research with advances in the life sciences. In particular, we should give better attention to the genetic test for a fetus. Because the fetus has no autonomy, ethical and social issues can arise. Therefore, appropriate genetic counseling is needed for parents to be informed with the characteristics, natural progress, and possible treatment of a genetic disease, prior to the prenatal genetic test. Physicians should also inform parents how a particular genetic risk factor relates with the likelihood of a disease, in order to assist the parents in making the best decision. Furthermore, the current law for prenatal genetic testing should be approached rationally.

Louvered Fin Heat Exchanger : Optimal Design and Numerical Investigation of Heat and Flow Characteristics (루버휜 최적 설계 및 최적 모델의 열유동 특성 분석)

  • Ryu, Kijung;Lee, Kwan-Soo
    • Korean Journal of Air-Conditioning and Refrigeration Engineering
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    • v.25 no.12
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    • pp.654-659
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    • 2013
  • This paper presents a numerical optimization of louvered fins to enhance the JF factor in terms of the design parameters, including the fin pitch, the number of louvers, the louver angle, the fin thickness, and the re-direction louver length. We carried out a parametric study to select the three most important parameters affecting the JF factor, which were the fin pitch, number of louvers, and the louver angle. We optimally designed the louvered fin by using 3rd-order full factorial design, the kriging method, and a micro genetic algorithm. Consequently, the JF factor of the optimum model increased by 16% compared to that of the base model. Moreover, the optimum model reduced the pressure drop by 17% with a comparable heat transfer rate.

Development of limit equilibrium method as optimization in slope stability analysis

  • Mendjel, D.;Messast, S.
    • Structural Engineering and Mechanics
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    • v.41 no.3
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    • pp.339-348
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    • 2012
  • The slope stability analysis is usually done using the methods of calculation to rupture. The problem lies in determining the critical failure surface and the corresponding factor of safety (FOS). To evaluate the slope stability by a method of limit equilibrium, there are linear and nonlinear methods. The linear methods are direct methods of calculation of FOS but nonlinear methods require an iterative process. The nonlinear simplified Bishop method's is popular because it can quickly calculate FOS for different slopes. This paper concerns the use of inverse analysis by genetic algorithm (GA) to find out the factor of safety for the slopes using the Bishop simplified method. The analysis is formulated to solve the nonlinear equilibrium equation and find the critical failure surface and the corresponding safety factor. The results obtained by this approach compared with those available in literature illustrate the effectiveness of this inverse method.

Genetic counseling in Korean health care system (유전상담의 제도적인 고찰)

  • Kim, Hyon-J.
    • Journal of Genetic Medicine
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    • v.4 no.1
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    • pp.1-5
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    • 2007
  • Unprecedented amount of genetic information being generated from the result of Human Genome Project (HGP) and advances in genetic research is already forcing changes in the paradigm of health and disease. The ultimate goal of genetic medicine is to use genetic information and technology to develop new ways of treatment or even prevention of the disease on an individual level for 'personalized medicine'. Genetics is play ing an increasingly important role in the diagnosis, monitoring and management of common multifactorial diseases in addition to rare single-gene disorders. While wide range of genetic testing have provided benefits to patients and family, uncertainties surrounding test interpretation, the current lack of available medical options for the diseases, and risks for discrimination and social stigmatization may remain to be resolved. However an increasing number of genetic tests are becoming commercially available, including direct to consumer genetic testing, yet public is often unaw are of their clinical and social implications. The personal nature of information generated by a genetic test, its power to affect major life decisions and family members, and its potential misuse raise important ethical considerations. Therefore appropriate genetic counseling is needed for patient to be informed with the benefits, limitations and risks of genetic tests, prior to informed consent for the tests. Physician also should be familiar with the legal and ethical issues involved in genetic testing to tell patients how w ell a particular genetic risk factor relates with likelihood of disease, and be able to provide appropriate genetic counseling. Genetic counseling become a mandatory requirement as global standard for many genetic testing such as prenatal diagnosis, presymtomatic DNA diagnostic tests and cancer susceptibility gene test for familial cancer syndrome. In oder to meet the challenge of genetic medicine of 21 century in korean health care system, professional education program and certification board for medical genetics specialist including non-MD genetic counselors should be addressed by medical society and regulatory policy of national health insurance reimbursement for genetic counseling to be in place to promote the implementation of clinical genetic service including genetic counseling for proper genetic testing.

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Identification of Novel SNPs in Bovine Insulin-like Growth Factor Binding Protein-3 (IGFBP3) Gene

  • Kim, J.Y.;Yoon, D.H.;Park, B.L.;Kim, L.H.;Na, K.J.;Choi, J.G.;Cho, C.Y.;Lee, H.K.;Chung, E.R.;Sang, B.C.;Cheong, I.J.;Oh, S.J.;Shin, Hyoung Doo
    • Asian-Australasian Journal of Animal Sciences
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    • v.18 no.1
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    • pp.3-7
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    • 2005
  • The insulin-like growth factors (IGFs), their receptors, and their binding proteins play key roles in regulating cell proliferation and apoptosis. Insulin-like growth factor binding protein-3 (IGFBP3, OMIM #146732) is one of the proteins that bind to the IGFs. IGFBP3 is a modulator of IGF bioactivity, and direct growth inhibitor in the extravascular tissue compartment. We identified twenty-two novel single nucleotide polymorphisms (SNPs) in IGFBP3 gene in Korean cattle (Hanwoo, Bos taurus coreanae) by direct sequencing of full gene including -1,500 bp promoter region. Among the identified SNPs, five common SNPs were screened in 650 Korean cattle; one SNP in promoter (IGFBP3 G-854C), one in 5'UTR region (IGFBP3 G-100A), two in intron 1 (IGFBP3 G+421T, IGFBP3 T+1636A), and one in intron 2 (IGFBP3 C+3863A). The frequencies of each SNP were 0.357 (IGFBP3 G-854C), 0.472 (IGFBP3 G-100A), 0.418 (IGFBP3 G+421T), 0.363 (IGFBP3 T+1636A) and 0.226 (IGFBP3 C+3863A), respectively. Haplotypes and their frequencies were estimated by EM algorithm. Six haplotypes were constructed with five SNPs and linkage disequilibrium coefficients (|D'|) between SNP pairs were also calculated. The information on SNPs and haplotypes in IGFBP3 gene could be useful for genetic studies of this gene.

Extracts from Rhizopus oryzae KSD-815 of Korean Traditional Nuruk Confer the Potential to Inhibit Hypertension, Platelet Aggregation, and Cancer Metastasis in vitro

  • Lee, Sang-Jin;Bae, Hyun-Jin;Ryu, Ji-Yeon;Lee, Dae-Young;Kim, Gye-Won;Baek, Na-Min;Kwon, Moo-Sik;Hong, Sung-Youl
    • Food Science and Biotechnology
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    • v.18 no.6
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    • pp.1423-1429
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    • 2009
  • Rhizopus oryzae KSD-815 was isolated from nuruk that has been used to make Korean traditional wines. This study was performed to investigate the effect of cultures of R. oryzae KSD-815 on cardiovascular disorders and cancer metastasis. Firstly, these cultures were sequentially fractionationed with n-hexane (TAHe), ethylacetate (TAE), n-butanol (TAB), and $H_2O$ (TAW). The TAE inhibited the activity of angiotensin-converting enzyme (ACE) and TAB suppressed platelet aggregation in vitro. TAE and TAB inhibited cell motility of human breast cancer cells. Furthermore, TAW interrupted the formation of neovasculature and tube-like structure, and down-regulated the expression of angiogenic factors, basic fibroblast growth factor (bFGF), tumor necrosis factor-$\alpha$ (TNF-$\alpha$), and hypoxia-inducible factor-$1{\alpha}$ (HIF-$1{\alpha}$) in breast cancer cells. These results indicated that cultures of R. oryzae KSD-815 display the inhibitory activities on hypertension, platelet aggregation, and metastasis, and suggest that these cultures might be further probed for the purposes as therapeutic agents or dietary supplements.

Nuclear factor kappa-B- and activator protein-1-mediated immunostimulatory activity of compound K in monocytes and macrophages

  • Yang, Woo Seok;Yi, Young-Su;Kim, Donghyun;Kim, Min Ho;Park, Jae Gwang;Kim, Eunji;Lee, Sang Yeol;Yoon, Keejung;Kim, Jong-Hoon;Park, Junseong;Cho, Jae Youl
    • Journal of Ginseng Research
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    • v.41 no.3
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    • pp.298-306
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    • 2017
  • Background: Compound K (CK) is a bioactive derivative of ginsenoside Rb1 in Panax ginseng (Korean ginseng). Its biological and pharmacological activities have been studied in various disease conditions, although its immunomodulatory role in innate immunity mediated by monocytes/macrophages has been poorly understood. In this study, we aimed to elucidate the regulatory role of CK on cellular events mediated by monocytes and macrophages in innate immune responses. Methods: The immunomodulatory role of CK was explored by various immunoassays including cell-cell adhesion, fibronectin adhesion, cell migration, phagocytic uptake, costimulatory molecules, reactive oxygen species production, luciferase activity, and by the measurement of mRNA levels of proinflammatory genes. Results: Compound K induced cell cluster formation through cell-cell adhesion, cell migration, and phagocytic activity, but it suppressed cell-tissue interactions in U937 and RAW264.7 cells. Compound K also upregulated the surface expression of the cell adhesion molecule cluster of differentiation (CD) 43 (CD43) and costimulatory molecules CD69, CD80, and CD86, but it downregulated the expression of monocyte differentiation marker CD82 in RAW264.7 cells. Moreover, CK induced the release of reactive oxygen species and induced messenger RNA expression of proinflammatory genes, inducible nitric oxide synthase, and tumor necrosis factor-alpha by enhancing the nuclear translocation and transcriptional activities of nuclear factor kappa-B and activator protein-1. Conclusion: Our results suggest that CK has an immunomodulatory role in innate immune responses through regulating various cellular events mediated by monocytes and macrophages.

Production of transgenic cattle by somatic cell nuclear transfer (SCNT) with the human granulocyte colony-stimulation factor (hG-CSF)

  • Carvalho, Bruno P.;Cunha, Andrielle T.M.;Silva, Bianca D.M.;Sousa, Regivaldo V.;Leme, Ligiane O.;Dode, Margot A.N.;Melo, Eduardo O.
    • Journal of Animal Science and Technology
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    • v.61 no.2
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    • pp.61-68
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    • 2019
  • The hG-CSF (human Granulocyte Colony-Stimulating Factor) is a growth and stimulation factor capable of inducing the proliferation of bone marrow cells, several types of leukocytes, among other hematopoietic tissue cells. hG-CSF is used in used to treat anomalies that reder a small number of circulating white blood cells, which may compromise the immune defenses of the affected person. For these reasons, the production of hG-CSF in a bioreactor system using the mammary gland of genetic modified animals is a possibility of adding value to the bovine genetic material and reducing the costs of hG-CSF production in pharmaceutical industry. In this study, we aimed the production of transgenic hG-CSF bovine through the lipofection of bovine primary fibroblasts with an hG-CSF expression cassette and cloning these fibroblasts by the somatic cell nuclear transfer (SCNT) technique. The bovine fibroblasts transfected with the hG-CSF cassette presented a stable insertion of this construct into their genome and were efficiently synchronized to G0/G1 cell cycle stage. The transgenic fibroblasts were cloned by SCNT and produced 103 transferred embryos and 2 pregnancies, one of which reached 7 months of gestation.

Genetic variants of the growth differentiation factor 8 affect body conformation traits in Chinese Dabieshan cattle

  • Zhao, Shuanping;Jin, Hai;Xu, Lei;Jia, Yutang
    • Animal Bioscience
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    • v.35 no.4
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    • pp.517-526
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    • 2022
  • Objective: The growth differentiation factor 8 (GDF8) gene plays a key role in bone formation, resorption, and skeletal muscle development in mammals. Here, we studied the genetic variants of GDF8 and their contribution to body conformation traits in Chinese Dabieshan cattle. Methods: Single nucleotide polymorphisms (SNPs) were identified in the bovine GDF8 gene by DNA sequencing. Phylogenetic analysis, motif analysis, and genetic diversity analysis were conducted using bioinformatics software. Association analysis between five SNPs, haplotype combinations, and body conformation traits was conducted in 380 individuals. Results: The GDF8 was highly conserved in seven species, and the GDF8 sequence of cattle was most similar to the sequences of sheep and goat based on the phylogenetic analysis. The motif analysis showed that there were 12 significant motifs in GDF8. Genetic diversity analysis indicated that the polymorphism information content of the five studied SNPs was within 0.25 to 0.5. Haplotype analysis revealed a total of 12 different haplotypes and those with a frequency of <0.05 were excluded. Linkage disequilibrium analysis showed a strong linkage (r2>0.330) between the following SNPs: g.5070C>A, g.5076T>C, and g.5148A>C. Association analysis indicated these five SNPs were associated with some of the body conformation traits (p<0.05), and the animals with haplotype combination H1H1 (-GGGG CCTTAA-) had greater wither height, hip height, heart girth, abdominal girth, and pin bone width than the other (p<0.05) Dabieshan cattle. Conclusion: Overall, our results indicate that the genetic variants of GDF8 affected the body conformation traits of Chinese Dabieshan cattle, and the GDF8 gene could make a strong candidate gene in Dabieshan cattle breeding programs.

Optimal Measurement Placement for Static Harmonic State Estimation in the Power Systems based on Genetic Algorithm

  • Dehkordl, Behzad Mirzaeian;Fesharaki, Fariborz Haghighatdar;Kiyournarsi, Arash
    • Journal of Electrical Engineering and Technology
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    • v.4 no.2
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    • pp.175-184
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    • 2009
  • In this paper, a method for optimal measurement placement in the problem of static harmonic state estimation in power systems is proposed. At first, for achieving to a suitable method by considering the precision factor of the estimation, a procedure based on Genetic Algorithm (GA) for optimal placement is suggested. Optimal placement by regarding the precision factor has an evident solution, and the proposed method is successful in achieving the mentioned solution. But, the previous applied method, which is called the Sequential Elimination (SE) algorithm, can not achieve to the evident solution of the mentioned problem. Finally, considering both precision and economic factors together in solving the optimal placement problem, a practical method based on GA is proposed. The simulation results are shown an improvement in the precision of the estimation by using the proposed method.