• Title/Summary/Keyword: Gene testing

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Novel Alternative Methods in Toxicity Testing

  • Satoh, Tetsuo
    • Proceedings of the Korean Society of Applied Pharmacology
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    • 1994.04a
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    • pp.129-130
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    • 1994
  • The science of toxicology is the understanding of the mechanisms by which exogenous agents produce deleterious effects in biological systems. The actions of chemicals such as drugs are ultimately exerted at the cellular and gene levels. Over the past decade. several in vitro alternative methods such as cultured cells for assessing the toxicity of various xenobiotics have been proposed to reduce the use of animals. In this workshop three advanced methods will be presented. These methods are novel important models for toxicologic studies. Dr. Tabuchis group has establishcd two immortalized gastric surface mucosa cell lines from the pminary cultore of gastric fundic mucosal cells of adult transgenic mice harboring a temperature sensitive simian virus 40 large T-anugen gene. As the immortalized cell lines of various tissues possess unique characteristics to maintain their normal functions for several months, these cell lines are extremely useful for not only toxicity testing but also pharmacological screening in new drug development. Professor Funatsu have studied the formation of spherical multicelluar aggregates of adult rat hepatocytes(spheroid) having tissue like structure. The sphcroid shown thre is a prototype module of an artificial liver support system. Thus, the urea synthesis activity of the artificial liver was maintained at least to days in 100% rat blood plasma. Dr. Takezawa and his coworkers have developed a novel culture system of multicellular spheroids considered 〃organoids〃 by utilizing a thermo-responsive polymer as a substratum of anchorage dependent cells. His final goal is to reconstitute the organoids of various normal organs, e.g., liver, skin etc. and also abnormal deseased organs such as tumor.

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Communication Patterns in Korean Families during BRCA Genetic Testing for Breast Cancer (BRCA 돌연변인 검사 중 유방암 환자 가족의 커뮤니케이션 패턴)

  • Anderson, Gwen;Jun, Myung-Hee;Choi, Kyung-Sook
    • Asian Oncology Nursing
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    • v.11 no.3
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    • pp.200-209
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    • 2011
  • Purpose: The purpose of this micro-ethnography is to examine whether science and societal changes impact family communication patterns among a convenience sample of 16 Korean women. Methods: The authors observed family communication in the context of a new breast cancer genetic screening and diagnostic testing program to detect BRCA gene mutations in Korean women at highest risk. Results: Analysis of in-depth interviews and field notes taken during participant observation illustrated that communication patterns in families vary according to a woman's position in the family. If a grandmother tests positive for a gene mutation, her daughters make decisions on her behalf; they open and maintain the communication channel among family members. If a housewife is diagnosed with cancer and a genetic mutation, she immediately consults her husband and her sisters. The husband creates an open communication channel between his wife, his parents and his siblings. As a result, a woman's cancer is a concern for the whole family not merely a woman's secret or crisis. Conclusion: Cultural differences are important to consider when designing new genetic service programs in different countries.

High-accuracy quantitative principle of a new compact digital PCR equipment: Lab On An Array

  • Lee, Haeun;Lee, Cherl-Joon;Kim, Dong Hee;Cho, Chun-Sung;Shin, Wonseok;Han, Kyudong
    • Genomics & Informatics
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    • v.19 no.3
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    • pp.34.1-34.6
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    • 2021
  • Digital PCR (dPCR) is the third-generation PCR that enables real-time absolute quantification without reference materials. Recently, global diagnosis companies have developed new dPCR equipment. In line with the development, the Lab On An Array (LOAA) dPCR analyzer (Optolane) was launched last year. The LOAA dPCR is a semiconductor chip-based separation PCR type equipment. The LOAA dPCR includes Micro Electro Mechanical System that can be injected by partitioning the target gene into 56 to 20,000 wells. The amount of target gene per wells is digitized to 0 or 1 as the number of well gradually increases to 20,000 wells because its principle follows Poisson distribution, which allows the LOAA dPCR to perform precise absolute quantification. LOAA determined region of interest first prior to dPCR operation. To exclude invalid wells for the quantification, the LOAA dPCR has applied various filtering methods using brightness, slope, baseline, and noise filters. As the coronavirus disease 2019 has now spread around the world, needs for diagnostic equipment of point of care testing (POCT) are increasing. The LOAA dPCR is expected to be suitable for POCT diagnosis due to its compact size and high accuracy. Here, we describe the quantitative principle of the LOAA dPCR and suggest that it can be applied to various fields.

Sex Determination and Parentage Testing In Miniature Horses (Miniature 말의 성(sex) 결정과 친자감정)

  • Cho Gil-jae;Cho Byung-wook
    • Journal of Life Science
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    • v.15 no.1 s.68
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    • pp.45-48
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    • 2005
  • The aim of this study was to construct a correct pedigree of miniature horses (MH). The sex of MH was detected by PCR amplification of the sex determining region of the Y chromosome gene (SRY) prior to parentage testing. Ten random MH samples for parentage testing were genotyped by using 16 micro satellite markers. Since the SRY band (430 bp) was detected in horses No.1, 2, 6, 7, 8, 9, 10, these are male. However, the DNA segment was not identified in horses No.3, 4, and 5, which therefore are female. After genotyping, parentage testing was performed according to Mendelian fashion and International Society for Animal Genetics (ISAG) guideline. Of the 10 MH, 3 were qualified by the compatibility of 16 markers according to Mendelian fashion in the present DNA typing for parentage verification. These results can provide basic information for developing parentage verification and an individual identification system in MH.

Protein-Coating Evaluation Method of Colloidal Gold Nanoparticles (콜로이드 골드 나노입자의 단백질 수송성 평가법)

  • Kim, Mi-Young;Noh, Sang-Myoung;Kim, Jung-Mogg;Choi, Han-Gon;Kim, Jung-Ae;Oh, Yu-Kyoung
    • Journal of Pharmaceutical Investigation
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    • v.34 no.6
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    • pp.465-469
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    • 2004
  • Colloidal gold nanoparticles might be of use as nano scale delivery systems of various therapeutic materials in the future. Recent studies have reported the feasibility of colloidal gold nanoparticles as gene delivery systems or protein delivery systems. In this study, we aimed to develop a short-step method useful for screening the optimal coating conditions of colloidal gold nanoparticles with proteins. We observed that colloidal gold nanoparticles have properties of changing its unique color when they were exposed to NaCl solution. Taking advantage of the color changing properties of colloidal gold nanoparticles, we applied the color testing method of colloidal gold nanoparticles solutions for evaluating the protein coating nature. Using bovine serum albumin as a model protein, we tested the protein coating of colloidal gold nanoparticles via the color change upon NaCl addition. The optimal coating concentration and coating conditions of colloidal gold nanoparticles with bovine serum albumin were fixed using the color testing methods. We suggest that the color testing method might be applied to optimize the coating condition of colloidal gold nanoparticles with other therapeutic proteins.

Navigating the landscape of clinical genetic testing: insights and challenges in rare disease diagnostics

  • Soo Yeon Kim
    • Childhood Kidney Diseases
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    • v.28 no.1
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    • pp.8-15
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    • 2024
  • With the rapid evolution of diagnostic tools, particularly next-generation sequencing, the identification of genetic diseases, predominantly those with pediatric-onset, has significantly advanced. However, this progress presents challenges that span from selecting appropriate tests to the final interpretation of results. This review examines various genetic testing methodologies, each with specific indications and characteristics, emphasizing the importance of selecting the appropriate genetic test in clinical practice, taking into account factors like detection range, cost, turnaround time, and specificity of the clinical diagnosis. Interpretation of variants has become more challenging, often requiring further validation and significant resource allocation. Laboratories primarily classify variants based on the American College of Medical Genetics and Genomics and the Association for Clinical Genomic Science guidelines, however, this process has limitations. This review underscores the critical role of clinicians in matching patient phenotypes with reported genes/variants and considering additional factors such as variable expressivity, disease pleiotropy, and incomplete penetrance. These considerations should be aligned with specific gene-disease characteristics and segregation results based on an extended pedigree. In conclusion, this review aims to enhance understanding of the complexities of clinical genetic testing, advocating for a multidisciplinary approach to ensure accurate diagnosis and effective management of rare genetic diseases.

Prevalence of HER-2-Positive Invasive Breast Cancer: A Systematic Review from Iran

  • Keyhani, Elahe;Muhammadnejad, Ahad;Karimlou, Masoud
    • Asian Pacific Journal of Cancer Prevention
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    • v.13 no.11
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    • pp.5477-5482
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    • 2012
  • Background: The HER-2/neu gene is altered in 15-20% of breast cancer patients. Immunohistochemistry (IHC) is considered to be the most cost-effective method for HER-2 detection in many countries. Approximately 8,000 new cases of breast cancer are observed annually in Iran. The aims of this study were to conduct a systematic review of the literature on the rate of HER-2-positive breast cancer diagnosed by IHC in Iran. Methods: A systematic search of the medical literature using the Medline/PubMed, ISI and SID databases revealed articles published in the English and Persian languages evaluating HER-2-positive breast cancer in Iran. Results: From 22 studies, 3,033 patients were evaluated, of whom 1,350 were diagnosed as HER-2-positive by IHC HER-2 testing. The mean percentage of HER-2-positive patients was 44.5%, which is higher than that recorded in international statistics. Results of this meta-analysis showed a significant heterogeneity between ratios. There was a statistically significant difference between the results of pre- and post implementation of 2007 American Society of Clinical Oncology/College of American Pathologists (ASCO/CAP) guideline. IHC HER-2 testing has been performed in Iran for over 10 years. Similar to many other countries, before establishment of an infrastructure for IHC diagnostic tests, HER-2 testing was routinely performed in Iran. Our study showed that the statistics reported from Iran varied widely; for instance, the rate of HER-2-positive cases varied from 23.3% to 81.0%. Conclusions: Our results demonstrate that the lack of standardization and harmonization of this test have led to marked variations in breast cancer diagnosis in Iran.

Predictive modeling of the compressive strength of bacteria-incorporated geopolymer concrete using a gene expression programming approach

  • Mansouri, Iman;Ostovari, Mobin;Awoyera, Paul O.;Hu, Jong Wan
    • Computers and Concrete
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    • v.27 no.4
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    • pp.319-332
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    • 2021
  • The performance of gene expression programming (GEP) in predicting the compressive strength of bacteria-incorporated geopolymer concrete (GPC) was examined in this study. Ground-granulated blast-furnace slag (GGBS), new bacterial strains, fly ash (FA), silica fume (SF), metakaolin (MK), and manufactured sand were used as ingredients in the concrete mixture. For the geopolymer preparation, an 8 M sodium hydroxide (NaOH) solution was used, and the ambient curing temperature (28℃) was maintained for all mixtures. The ratio of sodium silicate (Na2SiO3) to NaOH was 2.33, and the ratio of alkaline liquid to binder was 0.35. Based on experimental data collected from the literature, an evolutionary-based algorithm (GEP) was proposed to develop new predictive models for estimating the compressive strength of GPC containing bacteria. Data were classified into training and testing sets to obtain a closed-form solution using GEP. Independent variables for the model were the constituent materials of GPC, such as FA, MK, SF, and Bacillus bacteria. A total of six GEP formulations were developed for predicting the compressive strength of bacteria-incorporated GPC obtained at 1, 3, 7, 28, 56, and 90 days of curing. 80% and 20% of the data were used for training and testing the models, respectively. R2 values in the range of 0.9747 and 0.9950 (including train and test dataset) were obtained for the concrete samples, which showed that GEP can be used to predict the compressive strength of GPC containing bacteria with minimal error. Moreover, the GEP models were in good agreement with the experimental datasets and were robust and reliable. The models developed could serve as a tool for concrete constructors using geopolymers within the framework of this research.

Estimating the unconfined compression strength of low plastic clayey soils using gene-expression programming

  • Muhammad Naqeeb Nawaz;Song-Hun Chong;Muhammad Muneeb Nawaz;Safeer Haider;Waqas Hassan;Jin-Seop Kim
    • Geomechanics and Engineering
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    • v.33 no.1
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    • pp.1-9
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    • 2023
  • The unconfined compression strength (UCS) of soils is commonly used either before or during the construction of geo-structures. In the pre-design stage, UCS as a mechanical property is obtained through a laboratory test that requires cumbersome procedures and high costs from in-situ sampling and sample preparation. As an alternative way, the empirical model established from limited testing cases is used to economically estimate the UCS. However, many parameters affecting the 1D soil compression response hinder employing the traditional statistical analysis. In this study, gene expression programming (GEP) is adopted to develop a prediction model of UCS with common affecting soil properties. A total of 79 undisturbed soil samples are collected, of which 54 samples are utilized for the generation of a predictive model and 25 samples are used to validate the proposed model. Experimental studies are conducted to measure the unconfined compression strength and basic soil index properties. A performance assessment of the prediction model is carried out using statistical checks including the correlation coefficient (R), the root mean square error (RMSE), the mean absolute error (MAE), the relatively squared error (RSE), and external criteria checks. The prediction model has achieved excellent accuracy with values of R, RMSE, MAE, and RSE of 0.98, 10.01, 7.94, and 0.03, respectively for the training data and 0.92, 19.82, 14.56, and 0.15, respectively for the testing data. From the sensitivity analysis and parametric study, the liquid limit and fine content are found to be the most sensitive parameters whereas the sand content is the least critical parameter.

Very Early-Onset Inflammatory Bowel Disease: A Challenging Field for Pediatric Gastroenterologists

  • Arai, Katsuhiro
    • Pediatric Gastroenterology, Hepatology & Nutrition
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    • v.23 no.5
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    • pp.411-422
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    • 2020
  • With the increasing number of children with inflammatory bowel disease (IBD), very early-onset IBD (VEO-IBD), defined as IBD that is diagnosed or that develops before 6 years of age, has become a field of innovation among pediatric gastroenterologists. Advances in genetic testing have enabled the diagnosis of IBD caused by gene mutations, also known as monogenic or Mendelian disorder-associated IBD (MD-IBD), with approximately 60 causative genes reported to date. The diagnosis of VEO-IBD requires endoscopic and histological evaluations. However, satisfactory small bowel imaging studies may not be feasible in this small population. Both genetic and immunological approaches are necessary for the diagnosis of MD-IBD, which can differ among countries according to the available resources. As a result of the use of targeted gene panels covered by the national health insurance and the nationwide research project investigating inborn errors of immunity, an efficient approach for the diagnosis of MD-IBD has been developed in Japan. Proper management of VEO-IBD by pediatric gastroenterologists constitutes a challenge. Some MD-IBDs can be curable by allogenic hematopoietic stem cell transplantation. With an understanding of the affected gene functions, targeted therapies are being developed. Social and psychological support systems for both children and their families should also be provided to improve their quality of life. Multidisciplinary team care would contribute to early diagnosis, proper therapeutic interventions, and improved quality of life in patients and their families.