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Identification of unbalanced complex chromosomal rearrangements in IVF-derived embryos during NGS analysis of preimplantation genetic testing: A case report

  • Yu, Eun Jeong;Kim, Min Jee;Park, Eun A;Hong, Ye Seul;Park, Sun Ok;Park, Sang-Hee;Lee, Yu Bin;Yoon, Tae Ki;Kang, Inn Soo
    • Journal of Genetic Medicine
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    • v.19 no.1
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    • pp.14-21
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    • 2022
  • Complex chromosome rearrangements (CCRs) are structural chromosomal rearrangements involving at least three chromosomes and more than two breakpoints. CCR carriers are generally phenotypically normal but related to higher risk of recurrent miscarriage and having abnormal offspring with congenital anomalies. However, most of CCR carriers are not aware of their condition until genetic analysis of either abortus or affected baby or parental karyotyping is performed. Herein, we present the case that CCR carrier patients can be identified by preimplantation genetic testing of preimplantation embryos. An infertile male patient with severe oligoasthenoteratozoospermia was diagnosed balanced reciprocal translocation, 46,XY,t(3;11) (p26;p14) at first. After attempting the first preimplantation genetic testing for structural rearrangement (PGT-SR) cycle, we found the recurrent segmental gain or loss on 21q21.3-q22.3 of five out of nine embryos. As a result of karyotype re-analysis, the patient's karyotype showed a balanced CCR involving chromosomes 3, 11, and 21 with three breakpoints 3p26, 11p14, and 21q21. The patient underwent two PGT-SR cycles, and a pregnancy was established after the transfer of an euploid embryo in the second cycle. Amniocentesis confirmed that the baby carried normal karyotype without mosaicism. At 37 weeks gestation, a healthy girl weighting 3,050 g was born.

Determination of True Resistance from Load Transfer Test Performed on a PHC Pile (PHC 말뚝의 하중전이실험을 통한 참 지지력의 산정)

  • Kim, Sung-Ryul;Chung, Sung-Gyo;Dzung, N.T.
    • Journal of the Korean Geotechnical Society
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    • v.22 no.11
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    • pp.113-122
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    • 2006
  • Although a number of static pile load tests have been performed in this country, re-consideration on the interpretation and loading method is needed, because of their less usefulness in practice. For this study, a static loading testing was performed for a long instrumented PHC pile, which was installed in sand layer overlying thick soft clay. The shaft resistance of the pile had been monitored for a long time after installation, and then the static load testing was performed by the quick load test, unlike the recent Korean practice. Using the measured data, the elastic modulus of pile, residual stress and true resistance on the pile were determined. In the event, it was found that the residual stress on the pile, which remained prior to the static loading, significantly affects the shaft and toe resistances. Also, it was realized that the setup effect for the long pile is significant.

Control of Grain Refinement and Anisotropy of NdFeB Alloy Powder by Severe Plastic Deformation Fabricated by the Gas Atomization Process (가스분무로 제조된 NdFeB 합금분말의 강소성변형을 통한 결정립 미세화 및 이방성 제어)

  • Cho, J.Y.;Park, S.M.;Hussain, J.;Song, M.S.;Kim, T.S.
    • Transactions of Materials Processing
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    • v.31 no.3
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    • pp.124-128
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    • 2022
  • NdFeB magnets have been positioned as the core materials in advanced technologies such as MRI (magnetic resonance imaging), FA (factory automation system), robot, motors, and so on based on the highest magnetic properties. To effectively improve the refined microstructure, the plastic deformation has been known as the good alternatives by the recrystallization. However, it has been regarded as being impossible because of the few slip systems in the RE-Fe-B magnets at room temperature. The purpose of this study was to investigate the possibility of control of grain refinement and magnetic anisotropy of NdFeB alloy powder by the severe plastic deformation. The NdFeB magnet powder was fabricated by gas atomization process, and the powder was pre-compacted at high temperature. The pre-compacted billets were deformed by HPT (high pressure torsion), and then the deformed billets were observed microstructure and magnetic properties. After the HPT process at room temperature, the grain size decreased with increasing because of the melted Nd-rich phase, and the anisotropy of Nd2Fe14B phase was formed after the HPT process.

Biliary Obstruction Caused by Non-Hodgkin Lymphoma Involvement: A Case Report

  • Jae Hyun Lim;Huapyong Kang;Jung Hyun Jo;Hee Seung Lee;Jeong Youp Park;Seungmin Bang;Seung Woo Park;Si Young Song;Moon Jae Chung
    • Journal of Digestive Cancer Research
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    • v.6 no.1
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    • pp.32-35
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    • 2018
  • Non-Hodgkin's lymphoma is known to be a rare and unusual cause of biliary obstruction. We report a case of biliary obstruction that a 25-year-old male showed icteric sclera and yellow discoloration of his skin caused by metastasis of non-Hodgkin lymphoma. Initial imaging & endoscopic work-up led us to an impression of either cholangiocarcinoma or IgG4-related disease, yet the pathological results weren't diagnostic. Through our thorough re-examination, we found a 5cm sized round, fixed, non-tender sternal mass, and additional imaging studies were suggestive of lymphoma, which was also consistent with the results of incisional chest wall biopsy. Biliary obstruction by lymphoma was successfully treated by endoscopic plastic stent insertion procedure and chemotherapy. Although it is widely accepted that lymphoma accounts for very few portion of malignant biliary obstruction, due to the fact that lymphoma and cholangiocarcinoma are often indistinguishable, careful diagnostic approach should be done.

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Salmonella vector induces protective immunity against Lawsonia and Salmonella in murine model using prokaryotic expression system

  • Sungwoo Park;Eunseok Cho;Amal Senevirathne;Hak-Jae Chung;Seungmin Ha;Chae-Hyun Kim;Seogjin Kang;John Hwa Lee
    • Journal of Veterinary Science
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    • v.25 no.1
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    • pp.4.1-4.14
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    • 2024
  • Background: Lawsonia intracellularis is the causative agent of proliferative enteropathy and is associated with several outbreaks, causing substantial economic loss to the porcine industry. Objectives: In this study, we focused on demonstrating the protective effect in the mouse model through the immunological bases of two vaccine strains against porcine proliferative enteritis. Methods: We used live-attenuated Salmonella Typhimurium (ST) secreting two selected immunogenic LI antigens (Lawsonia autotransporter A epitopes and flagellin [FliC]-peptidoglycan-associated lipoprotein-FliC) as the vaccine carrier. The constructs were cloned into a Salmonella expression vector (pJHL65) and transformed into the ST strain (JOL912). The expression of immunogenic proteins within Salmonella was evaluated via immunoblotting. Results: Immunizing BALB/c mice orally and subcutaneously induced high levels of LI-specific systemic immunoglobulin G and mucosal secretory immunoglobulin A. In immunized mice, there was significant upregulation of interferon-γ and interleukin-4 cytokine mRNA and an increase in the subpopulations of cluster of differentiation (CD) 4+ and CD 8+ T lymphocytes upon splenocytes re-stimulation with LI antigens. We observed significant protection in C57BL/6 mice against challenge with 106.9 times the median tissue culture infectious dose of LI or 2 × 109 colony-forming units of the virulent ST strain. Immunizing mice with either individual vaccine strains or co-mixture inhibited bacterial proliferation, with a marked reduction in the percentage of mice shedding Lawsonia in their feces. Conclusions: Salmonella-mediated LI gene delivery induces robust humoral and cellular immune reactions, leading to significant protection against LI and salmonellosis.

Performance Evaluation of Machine Learning Model for Seismic Response Prediction of Nuclear Power Plant Structures considering Aging deterioration (원전 구조물의 경년열화를 고려한 지진응답예측 기계학습 모델의 성능평가)

  • Kim, Hyun-Su;Kim, Yukyung;Lee, So Yeon;Jang, Jun Su
    • Journal of Korean Association for Spatial Structures
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    • v.24 no.3
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    • pp.43-51
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    • 2024
  • Dynamic responses of nuclear power plant structure subjected to earthquake loads should be carefully investigated for safety. Because nuclear power plant structure are usually constructed by material of reinforced concrete, the aging deterioration of R.C. have no small effect on structural behavior of nuclear power plant structure. Therefore, aging deterioration of R.C. nuclear power plant structure should be considered for exact prediction of seismic responses of the structure. In this study, a machine learning model for seismic response prediction of nuclear power plant structure was developed by considering aging deterioration. The OPR-1000 was selected as an example structure for numerical simulation. The OPR-1000 was originally designated as the Korean Standard Nuclear Power Plant (KSNP), and was re-designated as the OPR-1000 in 2005 for foreign sales. 500 artificial ground motions were generated based on site characteristics of Korea. Elastic modulus, damping ratio, poisson's ratio and density were selected to consider material property variation due to aging deterioration. Six machine learning algorithms such as, Decision Tree (DT), Random Forest (RF), Support Vector Machine (SVM), K-Nearest Neighbor (KNN), Artificial Neural Networks (ANN), eXtreme Gradient Boosting (XGBoost), were used t o construct seispic response prediction model. 13 intensity measures and 4 material properties were used input parameters of the training database. Performance evaluation was performed using metrics like root mean square error, mean square error, mean absolute error, and coefficient of determination. The optimization of hyperparameters was achieved through k-fold cross-validation and grid search techniques. The analysis results show that neural networks present good prediction performance considering aging deterioration.

Evaluating the Protective Effectiveness of Rubber Glove Materials Against Organic Solvents Upon Repeated Exposure and Decontamination

  • Li-Wen Liu;Cheng-Ping Chang;Yu-Wen Lin;Wei-Ming Chu
    • Safety and Health at Work
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    • v.15 no.2
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    • pp.228-235
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    • 2024
  • Background: Glove reuse poses risks, as chemicals can persist even after cleaning. Decontamination methods like thermal aeration, recommended by US OSHA, vary in effectiveness. Some studies show promising results, while others emphasize the importance of considering both permeation and tensile strength changes. This research advocates for informed glove reuse, emphasizing optimal thermal aeration temperatures and providing evidence to guide users in maintaining protection efficiency. Methods: The investigation evaluated Neoprene and Nitrile gloves (22 mils). Permeation tests with toluene and acetone adhered to American Society for Testing Materials (ASTM) F739 standards. Decontamination optimization involved aeration at various temperatures. The experiment proceeded with a maximum of 22 re-exposure cycles. Tensile strength and elongation were assessed following ASTM D 412 protocols. Breakthrough time differences were statistically analyzed using t-test and ANOVA. Results: At room temperature, glove residuals decreased, and standardized breakthrough time (SBT)2 was significantly lower than SBT1, indicating reduced protection. Higher temperature decontamination accelerated residual removal, with ∆SBT (SBT2/SBT1) exceeding 100%, signifying restored protection. Tensile tests showed stable neoprene properties postdecontamination. Results underscore thermal aeration's efficacy for gloves reuse, emphasizing temperature's pivotal role. Findings recommend meticulous management strategies, especially post-breakthrough, to uphold glove-protective performance. Conclusions: Thermal aeration at 100℃ for 1 hour proves effective, restoring protection without compromising glove strength. The study, covering twenty cycles, suggests safe glove reuse with proper decontamination, reducing costs significantly. However, limitations in chemical-glove combinations and exclusive focus on specific gloves caution against broad generalization. The absence of regulatory directives on glove reuse highlight the importance of informed selection and rigorous decontamination validation for workplace safety practices.

Introduction to the standard reference data of electron energy loss spectra and their database: eel.geri.re.kr

  • Jeong Eun Chae;Ji-Soo Kim;Sang-Yeol Nam;Min Su Kim;Jucheol Park
    • Applied Microscopy
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    • v.50
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    • pp.2.1-2.7
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    • 2020
  • Electron energy loss spectroscopy (EELS) is an analytical technique that can provide the structural, physical and chemical information of materials. The EELS spectra can be obtained by combining with TEM at sub-nanometer spatial resolution. However, EELS spectral information can't be obtained easily because in order to interpret EELS spectra, we need to refer to and/or compare many reference data with each other. And in addition to that, we should consider the different experimental variables used to produce each data. Therefore, reliable and easily interpretable EELS standard reference data are needed. Our Electron Energy Loss Data Center (EELDC) has been designated as National Standard Electron Energy Loss Data Center No. 34 to develop EELS standard reference (SR) data and to play a role in dissemination and diffusion of the SR data to users. EELDC has developed and collected EEL SR data for the materials required by major industries and has a total of 82 EEL SR data. Also, we have created an online platform that provides a one-stop-place to help users interpret quickly EELS spectra and get various spectral information. In this paper, we introduce EEL SR data, the homepage of EELDC and how to use them.

Kinetic Studies on the Thermal Degradation of Ginsenosides in Ginseng Extract (Ginsenosides의 처리온도(處理溫度) 및 시간(時閭)에 따른 반응속도론적(反應速度論的) 연구(硏究))

  • Choi, Jin-Ho;Kim, Doo-Ha;Sung, Hyun-Soon;Kim, Woo-Jung;Oh, Sung-Ki
    • Korean Journal of Food Science and Technology
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    • v.14 no.3
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    • pp.197-202
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    • 1982
  • Kinetic study for the thermal degradation of ginsenosides in ginseng extract was conducted. The results indicate that the thermal degradation followed first order kinetics and rate constants varied substantially depending on the types of ginsenosides and heat treatment temperatures. Activation energy calculated by Arrhenius plots ranged from 16.80 kcal/mole to 30.10 kcal/mole and $Q_{10}$ values ranged from 2.01 to 3.49. Correlation coefficients between the change of ginsenoside contents by thermal degradation and heat treatment temperature were $0.995{\sim}0.999$. The dependence on temperatures of the decomposition rate constant of total ginsenoside can be expressed as $k=4.574{\times}10^8$ exp(8898.8/T).

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A Study on the Fashion Information Activities of Clothing Manufactures (의류제조업체의 패션 정보활동에 관한 연구)

  • 송미령
    • Journal of the Korean Society of Costume
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    • v.22
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    • pp.135-158
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    • 1994
  • The fashion industry of today is closely re-lated with the information activity. This study investigates now they take advantage of the fashion information by analysing some related fields including fashion design. Furthormore this study identify the factor which makes the design activity distinctive and predict and fu-ture trend in design. The purposes of this study through analysis are : to help find the way to facilitate the fashion industry and to develop the fashion merchandising in order to activate the re-cession of manufacturers and to improve competitiveness in the world market and to contribute to the academic achievement in the study of fashion merchandising. In the experimental approach the tasks of research are as follows: Research 1: The application of fashion infor-mation is discussed in terms of process and level. Research 2: The differences of the fashion design activities are captured on the basis of the characteristics of manufactures and fashion specialists and fashion information ac-tivities. The factors are identified which pre-dict and discriminate the results of fashion de-sign activities. The questionaire and interview were conduc-ted among women's clothing manufactures in Seoul and their fashion specialists in charge of merchandise development. The methods of survey were designed on the basis of theories developed so far and on he advice from the social scientists and fashion specialists. the methods were corrected and complemented through the 1st and 2nd preliminary investigations before their application For data analysis cronbach's a coefficient fre-quency percentage average standard devi-ation pearson's correlation coefficient were calculated and t-test F-test(ANOVA) Duncan's multiple range test regression and Discriminant analysis were conducted. The results of analysis throughout the experimen-tal studies were as follows: 1. The analysis of fashion in formation (1) the present application of information a. The source of information : Both the foreign and the domestic information came mostly from fashion journals magazines newspapers and other periodicals, the main source of market information was collected from the survey of popular items in recent years the data about the life-style of customers and their tastes for wearing were widely used as the information about consumers. b. The applicaton of information : The most widely used information was about fabrics. The foreign information was prefered on the whole. The domestic problems pointed out in this investgation were that the domestic journals showed the lack of specialty and the special organizations for fashion informatino were in urgent need. (2) The research of fashion information a. The various processes and levels of in-formation activities: Among the process of collection analysis and distribution the collec-tion process showed a good acheivement whereas the distribution whereas the distribution didn't. In levels of the systematic activities the acceptance of support and the utility of supported instruments the first indicated a high degree whereas the second showed lowest. b. The correlationship among subvariables : There was a significant correlation between the collection and the analysis process. The systematic activities revealed close relation-ship with the analysis process and the accept-ance of support with the distribution process. The close correlation was found between the utility of supported instruments and the analy-sis process. 2. The analysis of the fashion design activities (1) No significant differences were found in the design activities when the characteristics of companies were compared only. (2) According to the characteristics of fashion specialists the one with age experi-ence and high income showed rather good achievement but no significant differences were captured among sex department in charge title academic background education in abroad and field experience (3) The fashion information activities were strongly correlated with the design achieve-ment : The analysis process and the system-atic activity level had a great influence on the design activities. (4) In order to examine which cha-racteristics in (1-3) made it possible to pre-dct and discriminate the achievement in de-sign activities the Discriminant analysis was carried out. The results were as follows: the fashion information activities showed the highest discriminant rate. Next came the in-come level experience and age in that order Those four variables discrimated 37 from 50 who showed great achievement in design area (74%) and 51 from 83 in low achievement group (81%) Thus the total discriminant rate was 77.5%.

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