• Title/Summary/Keyword: In-situ reaction

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Molecular and cytogenetic findings in 46,XX males

  • Choi, Soo-Kyung;Kim, Young-Mi;Seo, Ju-Tae;Kim, Jin-Woo;Park, So-Yeon;Moon, In-Gul;Ryu, Hyun-Mee;Kang, Inn-Soo;Lee, You-Sik
    • Journal of Genetic Medicine
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    • v.2 no.1
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    • pp.11-15
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    • 1998
  • This paper reports 3 cases with 46,XX sex reversed male. Three 46,XX hypogonadal subjects showed complete sex reversal and had normal phallus and azoospermia. We studied them under clinical, cytogenetic and molecular aspects to find out the origin of the sex reversal. Patients had markedly elevated serum follicle-stimulating hormone (FSH) and lutenizing hormone (LH) and decreased or normal range of serum testosterone. The testicular volumes were small (3-8ml). Testicular biopsy showed Leydig cell hyperplasia and atrophy of seminiferous tubules. We obtained the results of normal 46,XX, and the presence of Y chromosome mosaicism was ruled out through XY dual fluorescent in situ hybridization (FISH). By using polymerase chain reaction (PCR), we amplified short arm (SRY, PABY, ZFY and DYS14), centromere (DYZ3), and heterochromatin (DYZ1) region of the Y chromosome. PCR amplification of DNA from these patients showed the presence of the sex-determining region of the Y chromosome (SRY) but didn't show the centromere and heterochromatin region sequence. The SRY gene was detected in all the three patients. Amplification patterns of the other regions were different in these patients; one had four amplified loci (PABY+, SRY+, ZFY+, DYS14+), another had two loci (SRY+, ZFY+) and the other had two loci (PABY+, SRY+). We have found that each patient's translocation elements had different breakpoints at upstream and downstream of the SRY gene region. We conclude that the testicular development in 46,XX male patients were due to insertion or translocation of SRY gene into X chromosome or autosomes.

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Application of Molecular Diagnostics Technology in the Development of a Companion Diagnostics for Malignant Solid Tumors (악성 고형암의 항암제 동반진단 기술에서 분자진단기술의 적용)

  • Kim, Jin-Hee
    • The Journal of the Korea Contents Association
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    • v.19 no.3
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    • pp.365-374
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    • 2019
  • Unlike benign tumors, malignant tumors are capable of metastasis, easy to relapse, poor survival, and low quality of life. In Korea, here is a tendency to treat the tumors collectively according to the General Principles of Cancer Chemotherapy(GPCC) of the Health Insurance Review & Assessment Service (HIRA). But recently, companion diagnostics(CDx) is recommended rather than unilateral medication because biomarker-based molecular diagnostics is possible to predict the drug response of patients before drug treatment. Not only domestic but also overseas Food and Drug Administratio (FDA) recommends the development of the CDx system at the stage of drug development to ensure the responsiveness and safety of medicines. In this study, I focused on the necessity of CDx development direction as well as CDx development status through literature review. Furthermore I also discussed CDx types according to the molecular diagnostic technology such as immunohistochemistry (IHC), polymerase chain reaction (PCR), in situ hybridization (ISH), and next-generation sequencing (NGS) not only in the approved CDx but also in the developing one by US FDA. And I suggested the technology issue of CDx development process such as a selection of molecular diagnostics at the time of release, a clear understanding of the CDx mechanism, and a convergence of drug with CDx development. The necessity of social insurance system also was proposed for CDx development.

Lung Adenocarcinoma Gene Mutation in Koreans: Detection Using Next Generation Sequence Analysis Technique and Analysis of Concordance with Existing Genetic Test Methods (한국인의 폐선암 유전자 돌연변이: 차세대 염기서열 분석법을 이용한 검출 및 기존 유전자 검사법과의 일치도 분석)

  • Jae Ha BAEK;Kyu Bong CHO
    • Korean Journal of Clinical Laboratory Science
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    • v.55 no.1
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    • pp.16-28
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    • 2023
  • Lung adenocarcinoma accounts for about 40% of all lung cancers. With the recent development of gene profiling technology, studies on mutations in oncogenes and tumor suppressor genes, which are important for the development and growth of tumors, have been actively conducted. Companion diagnosis using next-generation sequencing helps improve survival with targeted therapy. In this study, formalin-fixed paraffin-embedded tissues of non-small cell lung cancer patients were subjected to hematoxylin and eosin staining for detecting genetic mutations that induce lung adenocarcinoma in Koreans. Immunohistochemical staining was also performed to accurately classify lung adenocarcinoma tissues. Based on the results, next-generation sequencing was applied to analyze the types and patterns of genetic mutations, and the association with smoking was established as the most representative cause of lung cancer. Results of next-generation sequencing analysis confirmed the single nucleotide variations, copy number variations, and gene rearrangements. In order to validate the reliability of next-generation sequencing, we additionally performed the existing genetic testing methods (polymerase chain reaction-epidermal growth factor receptor, immunohistochemistry-anaplastic lymphoma kinase (D5F3), and fluorescence in situ hybridiation-receptor tyrosine kinase 1 tests) to confirm the concordance rates with the next-generation sequencing test results. This study demonstrates that next-generation sequencing of lung adenocarcinoma patients simultaneously identifies mutation.

Recent (2010-2019) foodborne outbreaks caused by viruses in the Republic of Korea along with their detection and inactivation methods (바이러스에 의한 최근(2010-2019) 국내 식중독 사고와 검출법 및 제어법에 대한 동향 조사)

  • Kwon, Seung-Wook;Kim, Sang-Soon
    • Korean Journal of Food Science and Technology
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    • v.53 no.1
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    • pp.1-11
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    • 2021
  • In this review, recent foodborne outbreaks caused by viruses in the Republic of Korea (2010-2019) were analyzed. The human norovirus was found to be the major foodborne virus causing an average of 94.9% of the viral outbreaks. Reverse-transcription polymerase chain reaction (PCR) with electrophoresis has been widely used to detect viruses, but several rapid detection methods, including real-time PCR, multiplex PCR, and quantum dot assay, have also been suggested. For norovirus inactivation studies, surrogates such as murine norovirus and feline calicivirus have been widely used to identify the reduction rate owing to the limitations in laboratory cultivation. Conversely, direct cell infection studies have been conducted for other foodborne viruses such as adenovirus, astrovirus, rotavirus, and hepatitis A or E virus. Moreover, virucidal mechanisms using various physical and chemical treatments have been revealed. These recent studies suggest that rapid in situ detection and effective control are valuable for ensuring food safety against viral infections.

Non-conductive Film Effect on Ni-Sn Intermetallic Compounds Growth Kinetics of Cu/Ni/Sn-2.5Ag Microbump during Annealing and Current Stressing (열처리 및 전류인가 조건에서 Cu/Ni/Sn-2.5Ag 미세범프의 Ni-Sn 금속간화합물 성장 거동에 미치는 비전도성 필름의 영향 분석)

  • Kim, Gahui;Ryu, Hyodong;Kwon, Woobin;Son, Kirak;Park, Young-Bae
    • Journal of the Microelectronics and Packaging Society
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    • v.29 no.2
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    • pp.81-89
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    • 2022
  • The in-situ electromigration(EM) and annealing test were performed at 110, 130, and 150℃ with a current density of 1.3×105 A/cm2 conditions to investigate the effect of non-conductive film (NCF) on growth kinetics of intermetallic compound (IMC) in Cu/Ni/Sn-2.5Ag microbump. As a result, the activation energy of the Ni3Sn4 IMC growth in the annealing and EM conditions according to the NCF application was about 0.52 eV, and there was no significant difference. This is because the growth rate of Ni-Sn IMC is much slower than that of Cu-Sn IMC, and the growth behavior of Ni-Sn IMC increases linearly with the square root of time, so it has the same reaction mechanism dominated by diffusion. In addition, there is no difference in the activation energy of the Ni3Sn4 IMC growth because the EM resistance effect of the back stress according to the NCF application is not large.

A Case of a 46,XX Male with SRY Gene (SRY 유전자를 가진 46,XX 남성 1례)

  • Min, Jeong-Yong;Lee, Dong-Suk;Cho, Soo-Kyung;Park, So-Hyun;Lee, Soo-Min;Baek, Min-Kyung;Kim, Ki-Chul;Hwang, Do-Yeong
    • Journal of Genetic Medicine
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    • v.5 no.2
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    • pp.145-149
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    • 2008
  • 46,XX male is a rare sex constitution characterized by the development of bilateral testis in persons who lack a Y chromosome. Manifestations of 46,XX males are usually hypogonadism, gynecomastia, azoospermia, and hyalinations of seminiferous tubules. The incidence of XX male reversal is approximately 1 in 20,000 male neonates. The SRYgene is located at the short arm of the Y chromosome(Yp11.31) and codes for testis determining factor in humans. Here, the patient, who presented with a normal male phenotype, was referred for azoospermia. Conventional cytogenetic analysis showed a 46,XX karyotype. Quantitative fluorescent polymerase chain reaction(QF-PCR) and Multiplex PCR studies identified SRY gene. And, Fluorescence In Situ Hybridization(FISH) confirmed the SRY gene on the distal short arm of chromosome X. We identified the SRY gene on the distal short arm of chromosome X by molecular cytogenetic and molecular analyses. Therefore, molecular-cytogenetics and molecular studies were proved to be clinically useful adjunctive tool to conventional prenatal cytogenetic analysis.

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Solid Bases as Racemization Catalyst for Lipase-catalyzed Dynamic Kinetic Resolution of Naproxen 2,2,2-Trifluoroethyl Thioester (리파아제에 의한 나프록센 2,2,2-트리플로로에틸 씨오에스터의 Dynamic Kinetic Resolution을 위한 라세미화 촉매로서의 고체 염기)

  • 김상범;원기훈;문상진;김광제;박홍우
    • KSBB Journal
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    • v.19 no.3
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    • pp.215-220
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    • 2004
  • A variety of solid bases such as inorganic bases, basic anion exchange resins, and resin-bound bases were tested as a catalyst for racemization of (S)-naproxen 2,2,2-trifluoroethyl thioester in isooctane at 45$^{\circ}C$. Among the various bases, DIAIOM WA30, which is a weakly basic anion exchange resin with a tertiary amine based on a highly porous type styrene-divinylbenzene copolymer, showed the highest catalytic activity. The second-order interconversion constant of DIAION WA30 was 8.6${\times}$10$\^$-4/ mM$\^$-1/h$\^$-1/ and about 3 times higher than that of trioctylamine under the same conditions. The rate of DIAION WA30-catalyzed racemization decreased with increasing an amount of water added to the reaction medium. Lipase-catalyzed kinetic resolution of racemic naproxen 2,2,2-trifluoroethyl thioester was successfully carried out under in situ racemization of substrate with DIAION WA30 in isooctane at 45$^{\circ}C$. More than 60% conversion and 99% enantiomeric excess for the desired (S)-naproxen product were obtained. Furthermore, such a solid base catalyst could be easily separated and reused in contrast to trioctylamine.

Reductive Degradation of 4-Chlorophenol Compound by Nickel-Coated Zero Valent Iron (니켈로 코팅된 염가금속을 이용한 4-염화페놀의 환원제거율 평가)

  • Shin Seung-Chul;Kim Young-Hun;Ko Seok-Oh
    • Journal of Soil and Groundwater Environment
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    • v.11 no.3
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    • pp.59-65
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    • 2006
  • Reductive dechlorination of chlorophenols by nickel coated iron was investigated to understand the feasibility of using Ni/Fe for the in situ remediation of contaminated groundwater. Zero valent iron (ZVI) was amended with Ni(II) ions to form bimetal (Ni/Fe). Dechlorination of 4-chlorophenol and formation of intermediates was studied using Ni/Fe. Effects of initial contaminant concentration, bimetal loading, presence of humic acid, and solution chemistry were also evaluated. Experimental results showed that Ni/Fe bimetal was so effective that more than 95% of 4-CP degradation was achieved within 240 minutes. Pseudo first-order rate constant for the dechlorination reaction was well correlated with bimetal loading. Humic acid competed for the reactive sites on the nickel coated iron with chlorophenols, lowering the dechlorination efficiency. No significant changes in solution pH were observed in the dechlorination of chlorophenols with Ni/Fe in the absence of buffer, indicating that reactivity of bimetal (Ni/Fe) could be prolonged. Phenol was found as a dechlorination intermediate of the conversion of 4-chlorophenol compound by Ni/Fe.

Pervaporation of binary Water/Methanol and Water/Butanol Mixtures through Zeolite 4A Membranes: Experiments and Modeling (제올라이트 4A 분리막을 이용한 물/메탄올, 물/부탄올 혼합물의 투과증발 특성 연구: 실험 및 모형)

  • Oh, Woong-Jin;Jung, Jae-Chil;Yeo, Jeong-gu;Lee, Jung Hyun;Kim, Hyunuk;Park, Young Cheol;Lee, Dong-Ho;Moon, Jong-Ho;Cho, Churl-Hee
    • Membrane Journal
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    • v.27 no.6
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    • pp.487-498
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    • 2017
  • In this study, pervaporation performances of water/methanol and water/butanol mixture were evaluated using zeolite 4A membranes manufacutred by FINETECH by experimental works and numerical modeling. Permeation and separation characteristics, such as flux and separation factor, were analyzed by gas chromatography (TCD) and liquid nitrogen traps. Experiments have shown that water is selectively separated from a mixture of water and methanol (separation factor up to approximately 250) and water and butanol (separation factor up to approximately 1,500). Generalized Maxwell Stefan (GMS) theory was implemented to predict pervaporation behaviors of water/alcohol mixtures and diffusional coefficients of zeolite layer were obtained through parameter estimation using $MATLAB^{(R)}$ optimization toolbox. Since the pore size of zeolite 4A are much larger than kinetic diameter of water molecules and smaller than those of methanol and butanol, zeolite 4A membranes can be applied to in situ water removal process such as membrane reactors or hybrid reaction-dehydration process.

A Preliminary Study on the Post-magmatic Activities Occurring at the Gonamsan Gabbroic Rocks in the Pocheon Area (포천지역 고남산 반려암질암 내 발생하는 후기 화성활동에 관한 예비 연구)

  • Lee, Ji-Hyun;Kim, Eui-Jun;Shin, Dongbok
    • Economic and Environmental Geology
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    • v.55 no.1
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    • pp.77-95
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    • 2022
  • The Gonamsan gabbroic complex in the Pocheon area, northwestern region of South Korea consists of a variety types of gabbroic rocks and associated Fe-Ti oxide deposits caused by magmatic differentiation. Post-magmatic intrusions (i.e., gabbroic pegmatite and pyroxene-apatite-zircon rocks) partly intruded into the gabbroic rocks. The gabbroic pegmatite occurs in monzodiorite and oxide gabbro of the complex, intimately and spatially associated with high-grade lenticular Fe-Ti oxide mineralization. The pegmatite can be subdivided into plagioclase-amphibole and pyroxene-olivine pegmatite, in which the contact surface is sharp. The plagioclase-amphibole pegmatite comprises plagioclase and amphibole, with lesser amount of pyroxene, ilmenite, sphene, apatite, and biotite. The pegmatite shows plagioclase-amphibole intergranular texture, in which the open space formed by large plagioclase laths (An2-26Ab72-98Or0-2) are infilled by amphibole. The pyroxene-olivine pegmatite is dark gray to black in color and also contains magnetite, ilmenite, spinel, apatite, and calcite as a minor component. The pyroxene (En35-36Fs8-9Wo55) and olivine (Fo84-85Fa15-16) partly show a poikilitic texture defined by smaller euhedral olivine enclosed by coarser clinopyroxene. Fe-Ti oxide minerals consist mainly of magnetite and ilmenite that are found interstitially to earlier formed silicates. Subsequently, they are encompassed by reaction rim (almost of amphibole and biotite) along the boundary with surrounding silicate minerals. Under the microscope, magnetite contains a lot of oxyexsolved ilmenite (trellis type) and spinel, and thereby is weakly enriched in magnetite-compatible elements such as Ti, Al, Mg, and V. The structure and textures at the contact zone as well as mineralogical disequilibrium between gabbroic pegmatite and the host gabbroic rocks suggest that the pegmatite may form as a result of accumulation from Fe-rich melt (or liquid) that occurred somewhere rather than in situ form from the host gabbroic rock during the magmatic differentiation. Consequently, the preliminary study suggests that further study on the post-magmatic activities can not only help us improve our understanding on magmatic fractionation but also provide critical information on Fe-Ti oxide mineralization in gabbroic rocks resulting from the magmatic differentiation.