• Title/Summary/Keyword: Genetic assessment

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The Role of Gene-environment Interaction in Environmental Carcinogenesis (환경성 발암 기전에서 유전자-환경 상호작용의 역할)

  • Han, So-Hee;Lee, Kyoung-Mu
    • Journal of Environmental Health Sciences
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    • v.36 no.1
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    • pp.1-13
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    • 2010
  • Evidences supporting gene-environment interaction are accumulating in terms of environmental exposure including lifestyle factors and related genetic variants. One form of defense mechanism against cancer development involves a series of genes whose role is to metabolize (activation/detoxification) and excrete potentially toxic compounds and to repair subtle mistakes in DNA. The purpose of this article is to provide a brief review of the notion of gene-environment interaction, environmental/occupational carcinogens and related cancers, and previous studies of gene-environment interaction on cancers caused by exposure to carcinogenesis. With a number of studies on the interaction between lifestyle factors (e.g., smoking and diet) and genetic polymorphisms in genes involved in xenobiotic metabolism and DNA repair excluded, only several studies have been conducted on the interactive effects between polymorphisms of CYPs, GSTs, ERCCs, XRCCs and environmental/occupational carcinogens such as vinyl chloride, benzo[a]pyrene, and chloroform on carcinogenesis or genotoxicity. Future studies may need to be conducted with sufficient number of subjects and based on occupational cohorts to provide useful information in terms of advanced risk assessment and regulation of exposure level.

Optimal assessment and location of tuned mass dampers for seismic response control of a plan-asymmetrical building

  • Desu, Nagendra Babu;Dutta, Anjan;Deb, S.K.
    • Structural Engineering and Mechanics
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    • v.26 no.4
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    • pp.459-477
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    • 2007
  • A bi-directional tuned mass damper (BTMD) in which a mass connected by two translational springs and two viscous dampers in two orthogonal directions has been introduced to control coupled lateral and torsional vibrations of asymmetric building. An efficient control strategy has been presented in this context to control displacements as well as acceleration responses of asymmetric buildings having asymmetry in both plan and elevation. The building is idealized as a simplified 3D model with two translational and a rotational degrees of freedom for each floor. The principles of rigid body transformation have been incorporated to account for eccentricity between center of mass and center of rigidity. The effective and robust design of BTMD for controlling the vibrations in structures has been presented. The redundancy of optimum design has been checked. Non dominated sorting genetic algorithm (NSGA) has been used for tuning optimum stages and locations of BTMDs and its parameters for control of vibration of seismically excited buildings. The optimal locations have been observed to be reasonably compact and practically implementable.

Clinical Approaches to Patients with Congenital Malformations (선천성 기형의 임상적 접근)

  • Lee, Jin-Sung
    • Journal of Genetic Medicine
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    • v.5 no.2
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    • pp.94-99
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    • 2008
  • Congenital malformation is observed in about 2-5% of newborns and is a leading cause of infant mortality. The prognosis of malformation is dictated mainly by proper treatment followed by correct diagnosis at an early age. In practice, etiological consideration and classification of a malformation is critical for diagnosis. Malformations can be classified as belonged to minor or major anomaly. It is clinically important to clarify the pathogenesis of the anomalies among malformation, deformation, disruption, and dysruption. Genetic counseling aids this process by helping patients or family members understand and the nature of the malformation and risk assessment.

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Probabilistic Damage Mechanics Assessment of CANDU Pressure Tube using Genetic Algorithm (유전자 알고리즘을 이용한 CANDU 압력관의 확률론적 손상역학 평가)

  • Ko, Han-Ok;Chang, Yoon-Suk;Choi, Jae-Boong;Kim, Young-Jin;Kim, Hong-Key;Choi, Young-Hwan
    • Proceedings of the KSME Conference
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    • 2008.11a
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    • pp.192-192
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    • 2008
  • As the lifetime of nuclear power plants (NPPs) reaches design life, the probability for fatal accidents increases. Most of accidents are known to be caused by degradation of mechanical components. Pressure tubes are the most important components in CANDU reactor. They are subjected to various aging mechanisms such as delayed hydride cracking (DHC), irradiation and corrosion, etc. Therefore, the integrity of pressure tube is key concern in CANDU reactor. Up to recently, conventional deterministic approaches have been utilized to evaluate the integrity of components. However, there are many uncertainties to prevent a rational evaluation. The objective of this paper is to assess the failure probability of pressure tube in CANDU. To do this, probability fracture mechanics (PFM) analysis based on the Genetic Algorithm (GA) is performed. For the verification of the analysis, a comparison of the PFM analysis using a commercial code and mathematical method is carried out.

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Assessment of Environmental Pollution with Tradescantia Bioassays (자주달개비 생물검정 기법을 이용한 환경오염 평가)

  • Kim Jin Gyu;Sin Hae Sik
    • Proceedings of the Korea Society of Environmental Biology Conference
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    • 2004.05a
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    • pp.1-15
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    • 2004
  • Higher plants can be valuable genetic assay systems for monitoring environmental pollutants and evaluating their biological toxicity. Two assays are considered ideal for in situ monitoring and testing of soil, airborne and aqueous mutagenic agents; the Tradescantia stamen hair assay for somatic cell mutations and the Tradescantia micronucleus assay for chromosome aberrations. Both assays can be used for in vivo and in vitro testing of mutagens. Since higher plant systems are now recognized as excellent indicators and have unique advantages over in situ monitoring and screening, higher plant systems could be accepted by regulatory authorities as an alternative first-tier assay system for the detection of possible genetic damages resulting from the pollutants or chemicals used and produced by industrial sectors. It has been concluded that potential mutagen and carcinogen such as the heavy metals among indoor air particulates, volatile compounds in the working places, soil, and water pollutants contribute to the overall health risk. This contribution can be considerable under certain circumstances. It is therefore important to identify the level of genotoxic activity in the environment and to relate it to the biomarkers of a health risk in humans. The results from the higher plant bioassays could make a significant contribution to assessing the risks of pollutants and protecting the public firom agents that can cause mutation anuor cancer. The plant bioassays, which are relatively inexpensive and easy to handle, are recommended for the scientists who are interested in monitoring pollutants and evaluating their environmental toxicity to living organisms.

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Assessment of antibacterial activity of the cardiovascular drug nifedipine

  • Pal, Tapas;Dutta, Noton Kumar;Mazumdar, Kaushiki;Dasgupta, Asish;L., Jeyaseeli;Dastidar, Sujata G.
    • Advances in Traditional Medicine
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    • v.6 no.2
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    • pp.126-133
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    • 2006
  • The cardiovascular drug nifedipine exhibited significant in vitro and in vivo antibacterial activity against 331 strains of bacteria belonging to three Gram-positive and twelve Gram-negative genera. The minimum inhibitory concentration of the drug, as determined both by agar and broth dilution methods, was seen to range from $25\;-\;200\;{\mu}g/ml$ against most test bacteria, including several pathogenic ones, in the in vitro studies. Nifedipine was bacteriostatic in action. in vivo studies with this drug showed that it could offer statistically significant protection (P < 0.001) to mice challenged with a virulent bacterium. Therefore, nifedipine has the potential of an antibacterial agent, which may be developed after further pharmacological studies.

Use of Stable Isotope Probing in Selectively Isolating Target Microbial Community Genomes from Environmental Samples for Enhancing Resolution in Ecotoxicological Assessment

  • Park, Joonhong;Congeevaram, Shankar;Ki, Dong-Won;Tiedje, James M.
    • Molecular & Cellular Toxicology
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    • v.2 no.1
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    • pp.11-14
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    • 2006
  • In this study we attempted to develop a novel genomic method to selectively isolate target functional microbial genomes from environmental samples. For this purpose, stable isotope probing (SIP) was applied in selectively isolating organic pollutant-assimilating populations. When soil microbes were fed with $^{13}C-labeled $ biphenyl, biphenyl-utilizing cells were incorporated with the heavy carbon isotope. The heavy DNA portion was successfully separated by CsCl equilibrium density gradient. And the diversity in the heavy DNA was sufficiently reduced, being suitable for the current DNA microarray techniques to detect biphenyl-utilizing populations in the soil. In addition, we proposed a new way to get more genetic information by combining this SIP method with selective metagenomic approach. The increased selective power of these new DNA isolation methods will be expected to provide a good quality of new genetic information, which, in turn, will result in development of a variety of biomarkers that may be used in assessing ecotoxicology issues including the impacts of organic hazards, and antibiotic-resistant pathogens on human and ecological systems.

Weighted sum multi-objective optimization of skew composite laminates

  • Kalita, Kanak;Ragavendran, Uvaraja;Ramachandran, Manickam;Bhoi, Akash Kumar
    • Structural Engineering and Mechanics
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    • v.69 no.1
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    • pp.21-31
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    • 2019
  • Optimizing composite structures to exploit their maximum potential is a realistic application with promising returns. In this research, simultaneous maximization of the fundamental frequency and frequency separation between the first two modes by optimizing the fiber angles is considered. A high-fidelity design optimization methodology is developed by combining the high-accuracy of finite element method with iterative improvement capability of metaheuristic algorithms. Three powerful nature-inspired optimization algorithms viz. a genetic algorithm (GA), a particle swarm optimization (PSO) variant and a cuckoo search (CS) variant are used. Advanced memetic features are incorporated in the PSO and CS to form their respective variants-RPSOLC (repulsive particle swarm optimization with local search and chaotic perturbation) and CHP (co-evolutionary host-parasite). A comprehensive set of benchmark solutions on several new problems are reported. Statistical tests and comprehensive assessment of the predicted results show CHP comprehensively outperforms RPSOLC and GA, while RPSOLC has a little superiority over GA. Extensive simulations show that the on repeated trials of the same experiment, CHP has very low variability. About 50% fewer variations are seen in RPSOLC as compared to GA on repeated trials.

Novel compound heterozygous mutations of ATM in ataxia-telangiectasia: A case report and calculated prevalence in the Republic of Korea

  • Jang, Min Jeong;Lee, Cha Gon;Kim, Hyun Jung
    • Journal of Genetic Medicine
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    • v.15 no.2
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    • pp.110-114
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    • 2018
  • Ataxia-telangiectasia (AT; OMIM 208900) is a rare autosomal recessive inherited progressive neurodegenerative disorder, with onset in early childhood. AT is caused by homozygous or compound heterozygous mutations in ATM (OMIM 607585) on chromosome 11q22. The average prevalence of the disease is estimated at 1 of 100,000 children worldwide. The prevalence of AT in the Republic of Korea is suggested to be extremely low, with only a few cases genetically confirmed thus far. Herein, we report a 5-year-old Korean boy with clinical features such as progressive gait and truncal ataxia, both ankle spasticity, dysarthria, and mild intellectual disability. The patient was identified as a compound heterozygote with two novel genetic variants: a paternally derived c.5288_5289insGA p.(Tyr1763*) nonsense variant and a maternally derived c.8363A>C p.(His2788Pro) missense variant, as revealed by next-generation sequencing and confirmed by Sanger sequencing. Based on claims data from the Health Insurance Review and Assessment Service Republic of Korea, we calculated the prevalence of AT in the Republic of Korea to be about 0.9 per million individuals, which is similar to the worldwide average. Therefore, we suggest that multi-gene panel sequencing including ATM should be considered early diagnosis.

Genetic determinants of periosteum-mediated craniofacial bone regeneration: a systematic review

  • Eyituoyo Okoturo
    • Archives of Craniofacial Surgery
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    • v.24 no.6
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    • pp.251-259
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    • 2023
  • Background: Periosteum-mediated bone regeneration (PMBR) is a recognized method for mandibular reconstruction. Despite its unpredictable nature and the limited degree to which it is understood, it does not share the concerns of developmental changes to donor and recipient tissues that other treatment options do. The definitive role of the periosteum in bone regeneration in any mammal remains largely unexplored. The purpose of this study was to identify the genetic determinants of PMBR in mammals through a systematic review. Methods: Our search methodology was designed in accordance with the PRISMA (Preferred Reporting Items for Systematic Review and Meta-Analysis) guidelines. We conducted a quality assessment of each publication, and evaluated the differences in gene expression between days 7 and 15. Results: A total of four studies satisfied the inclusion criteria. The subjects and tissues examined in these studies were Wistar rat calvaria in two studies, mini-pigs in one study, and calves and mice in one study. Three out of the four studies achieved the necessary quality score of ≥ 3. Gene expression analysis showed increased activity of genes responsible for angiogenesis, cytokine activities, and immune-inflammatory responses on day 7. Additionally, genes related to skeletal development and signaling pathways were upregulated on day 15. Conclusions: The results suggest that skeletal morphogenesis is regulated by genes associated with skeletal development, and the gene expression patterns of PMBR may be characterized by specific pathways.