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Population-Based Newborn Hearing Impairment Screening Test Using GJB2 Mutation Analysis

  • Lee, Kyung-Ok;Jeong, Su-Jin;Byun, Ji-Young;Kim, Jeong-Sook;Lee, Hye-Jung;Seong, Hye-Soon;Kim, Kyung-Tae
    • Korean Journal of Clinical Laboratory Science
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    • v.39 no.2
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    • pp.113-121
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    • 2007
  • Hearing loss is a common congenital disorder that is frequently associated with mutations in the Cx26 gene (GJB2). Recently, the mutation analysis of GJB2 has been used in a newborn screening test for the detection of hearing impairment. Population-based studies should be performed before the application of genetic testing for the identification of deaf newborns. In this study, 8 positions of GJB2 mutations-including 35delG, 167delT, 235delC, V27I, V37I, M34T, E114G, and I203T-were analyzed using PCR-direct sequencing in a total of 437 healthy Korean neonates. DNAs from dried blood spots were extracted using a commercial DNA extraction kit. The PCR-amplified products (783 bps) of the GJB2 gene were detected using 2% agarose gel electrophoresis and subjected to direct sequencing. The sequences were compared with those in the GenBank database by using the BLAST program. In this study, 5 GJB2 mutations -including V27I (79G>A), V37I (109G>A), E114G (341A>G), I203T (608T>C), and 235delC- were found. Of the 437 neonate samples, 301 subjects showed GJB2 mutations (68.9%, 301/437). The V27I mutation was found in 271 subjects and was the most frequent (62.0%, 271/437). The E114G, I203T and V37I mutations were shown in 146, 17 and 14 subjects, respectively. The 235delC mutation was found in 1 subject. The E114G mutation was frequently accompanied by the V27I mutation. V27I/E114G (97.2%, 143/147) was the most common double mutation and 3 subjects had the double mutation V27I/I203T. A triple mutation, V27I/E114G/I203T, was found in 1 subject. In conclusion, PCR-direct sequencing is a convenient tool for the rapid detection of GJB2 mutations and this data might provide information for the genetic counseling of the GJB2 gene.

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Estimation for Red Pepper(Capsicum annum L.) Biomass by Reflectance Indices with Ground-Based Remote Sensor (지상부 원격탐사 센서의 반사율지수에 의한 고추 생체량 추정)

  • Kim, Hyun-Gu;Kang, Seong-Soo;Hong, Soon-Dal
    • Korean Journal of Soil Science and Fertilizer
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    • v.42 no.2
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    • pp.79-87
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    • 2009
  • Pot experiments using sand culture were conducted in 2004 under greenhouse conditions to evaluate the effect of nitrogen deficiency on red pepper biomass. Nitrogen stress was imposed by implementing 6 levels (40% to 140%) of N in Hoagland's nutrient solution for red pepper. Canopy reflectance measurements were made with hand held spectral sensors including $GreenSeeker^{TM}$, $Crop\;Circle^{TM}$, and $Field\;Scout^{TM}$ Chlorophyll meter, and a spectroradiometer as well as Minolta SPAD-502 chlorophyll meter. Canopy reflectance and dry weight of red pepper were measured at five growth stages, the 30th, 40th, 50th, 80th and 120th day after planting(DAT). Dry weight of red pepper affected by nitrogen stress showed large differences between maximum and minimum values at the 120th DAT ranged from 48.2 to $196.6g\;plant^{-1}$, respectively. Several reflectance indices obtained from $GreenSeeker^{TM}$, $Crop\;Circle^{TM}$ and Spectroradiometer including chlorophyll readings were compared for evaluation of red pepper biomass. The reflectance indices such as rNDVI, aNDVI and gNDVI by the $Crop\;Circle^{TM}$ sensor showed the highest correlation coefficient with dry weight of red pepper at the 40th, 50th, and 80th DAT, respectively. Also these reflectance indices at the same growth station was closely correlated with dry weight, yield, and nitrogen uptake of red pepper at the 120th DAT, especially showing the best correlation coefficient at the 80th DAT. From these result, the aNDVI at the 80th DAT can significantly explain for dry weight of red pepper at the 120th DAT as well as for application level of nitrogen fertilizer. Consequently ground remote sensing as a non-destructive real-time assessment of plant nitrogen status was thought to be a useful tool for in season nitrogen management for red pepper providing both spatial and temporal information.

A Study on Protection Performance of Radiation Protective Aprons classified by Manufacturers and Lead Equivalent using Over Tube Type Fluoroscopy (Over Tube Type의 투시촬영장치를 이용한 제조사별, 납당량별 엑스선방어 앞치마의 Protection 성능 평가에 관한 연구)

  • Song, Jong-Nam;Seol, Gwang-Wook;Hong, Seong-Il;Choi, Jeong-Gu
    • Journal of the Korean Society of Radiology
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    • v.5 no.3
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    • pp.135-141
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    • 2011
  • If protective performance of apron cannot be good, radiation exposure of an guardian or a patient, a person engaged in radiation related industry cannot rise. Therefore, It will be evaluated protection performance to radiation protection aprons by manufacturers and lead equivalent more than 0.25mm lead equivalent. And, will show in the direction of application to clinic. The new aprons by manufacturers(H, X, I, J company) and lead equivalent(0.50mmPb, 0.35mmPb, 0.25mmPb) measured transmitted dose rate and shielding rate, uniformity under fluoroscopy and general radiography using to fluoroscopy system and digital radiography system, x-ray multifunction meter. The shielding rate measurement results, 0.5mmPb apron was Shielding rate of apron of a I company(fluoroscopy : 97.96%) was the best under six companies, and shielding rate of apron of a J company(fluoroscopy : 96.25%) was worst. 0.35mmPb Apron was Shielding rate of a I company(fluoroscopy : 96.79%) was the best under the three companies, and shielding rate of an H company(fluoroscopy : 95.81%) was the worst. 0.25mmPb Apron was Shielding rate of X company apron(fluoroscopy : 90.908%) was better than H company apron(fluoroscopy : 88.82%) than two companies. The uniformity measurement results, 0.5mmPb Aprons of X company(fluoroscopy : 0.13) and I company(fluoroscopy : 0.19) was the best under the six companies, and J company apron(fluoroscopy : 0.45) was the worst. 0.35mmPb. Along a manufacturer and lead equivalent performance of apron protection is distinguished certainly. Therefore, a patient, guardian or a person engaged in radiation related industry shall enforce experiment of a lot of ways defined or evaluation so that the maximum reduces radiation exposure. Buy the apron that protective performance is good, It will be performed through experiment and evaluation.

The effects of selenium on fetal growth and development in CD-1 mice exposed with mercury for the gestation period (임신 중 수은을 섭취한 CD-1 마우스 태아의 성장발육과 기형발생에 미친 셀레늄의 효과)

  • Kim, Jin-suk;Lee, Sang-mok;Choi, Seok-wha;Lee, Won-chang
    • Korean Journal of Veterinary Research
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    • v.34 no.2
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    • pp.361-368
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    • 1994
  • Teratogenic and embryotoxic effects of mercury have been reported, however, there is little information about possible antidotes against mercury exposure during gestation. In order to evaluate therapeutic effects of selenium as an antidote against mercury poisoning, pregnant CD-1 mice were exposed to methylmercury chloride(20ppm) through the drinking water with treatment of sodium selenite (1.0mg, 2.0mg or 3.0mg/kg b.w., subcutaneously) or BAL(5.0mg/kg b.w., subcutaneously) under the single or combination base as the therapeutic agents from day 6 to 15 of gestation. Fetal growth parameters such as body weight and crown-rump length in the mice exposed to mercury, were reduced as was placental weight compared to those in the control. Treatment of selenium(alone, combination with BAL) reduced the harmful effects induced by mercury on the fetal growth parameters even though no specific relationship between dose and therapeutic effect. The incidence of dead fetuses/resorptions and malformed fetuses(especially cleft palate) was also increased in the mercury only treated group. Selenium treatment demonostrated reduced the incidence of abnormal fetuses under the exposure of mercury. Relative maternal organ weights(liver, kidney, spleen) were increased significantly but relative brain weight was decreased as evidenced by decreased in the mercury treated mice compared to that in the control. A subtle indication of maternal mercury toxicity evidenced by changes of relative maternal organ weights, decreased water and feed consumption were also prevented efficiently by selenium treatment. The present study suggests that methylmercuric chloride is embrytoxic and teratogenic in CD-1 mice when exposured during organogenesis and that selenium administration may have therapeutic application for the treatment of mercury poisoning although more applicable study in human should be performed with caution in the future.

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On Method for LBS Multi-media Services using GML 3.0 (GML 3.0을 이용한 LBS 멀티미디어 서비스에 관한 연구)

  • Jung, Kee-Joong;Lee, Jun-Woo;Kim, Nam-Gyun;Hong, Seong-Hak;Choi, Beyung-Nam
    • 한국공간정보시스템학회:학술대회논문집
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    • 2004.12a
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    • pp.169-181
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    • 2004
  • SK Telecom has already constructed GIMS system as the base common framework of LBS/GIS service system based on OGC(OpenGIS Consortium)'s international standard for the first mobile vector map service in 2002, But as service content appears more complex, renovation has been needed to satisfy multi-purpose, multi-function and maximum efficiency as requirements have been increased. This research is for preparation ion of GML3-based platform to upgrade service from GML2 based GIMS system. And with this, it will be possible for variety of application services to provide location and geographic data easily and freely. In GML 3.0, it has been selected animation, event handling, resource for style mapping, topology specification for 3D and telematics services for mobile LBS multimedia service. And the schema and transfer protocol has been developed and organized to optimize data transfer to MS(Mobile Stat ion) Upgrade to GML 3.0-based GIMS system has provided innovative framework in the view of not only construction but also service which has been implemented and applied to previous research and system. Also GIMS channel interface has been implemented to simplify access to GIMS system, and service component of GIMS internals, WFS and WMS, has gotten enhanded and expanded function.

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The difference of photosynthetic efficiency and electron transport rate by control of the red tide organism using algicidal substance and yellow clay (살조물질과 황토를 이용한 적조생물 제어에 따른광합성 효율 및 전자전달율의 차이)

  • Son, Moonho;Baek, Seung Ho
    • Journal of the Korea Academia-Industrial cooperation Society
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    • v.16 no.4
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    • pp.2951-2957
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    • 2015
  • The development of worldwide harmful algal blooms(HAB) is a serious problem for public health and fisheries industries. To evaluate the algicidal impact on the HAB species, algicide thiazolidinedione derivative (TD49) and yellow clay were examined, which is focus on assess the algicidal effects and inhibition to photosynthesis of HAB species. To obtain the detailed information, we analyzed the viability of target species related to activity Chl. a, photosynthetic efficiency($F_v/F_m$), and electron transport rate(ETR). Culture experiment was conducted to evaluate the algicidal effects of three harmful species(raphidophyceae Heterosigma akashiwo, Chattonella marina, and dinophyceae Heterocapsa circularisquama) and one non-harmful species (cryptophyceae Rhodomonas salina). Our experiments revealed that three HAB species were easily destroyed of the cell walls after TD49 dosing. Also, they had significantly reducing values of active Chl. a, $F_v/F_m$, and ETR, due to the damage of photosystem II by inter-cellular disturbance. As a result, the algicidal effect(%) for the three HABs were as follows, in the order of greatest to the least: H. circularisquama> C. marina> H. akashiwo. However, the algicidal effect for yellow clay remained to be <30% (p>0.01), implying that it may not have damaged the photosystem II. On the other hand, non-HAB R. salina was promoted at both TD49 and yellow clay treatments. Our results demonstrated that the TD49 is a good agent for the control of HABs H. akashiwo, C. marina, and H. circularisquama, whereas the yellow clay would not be suitable for the field application based on our experimental results.

A Study on Measures to Strengthen National Authorized Qualification (국가공인 민간자격 활용성 강화 방안 연구)

  • Kim, Sang-Jin;Park, Jong-Sung;Jung, Hyang-Jin
    • Journal of Engineering Education Research
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    • v.12 no.1
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    • pp.3-16
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    • 2009
  • The purpose of this study is to prepare diverse measures to enhance the utilization of national authorized qualification. The detail objectives of this study are first, to re-establish the utilization scope and range of national authorized qualification through analysis of advance research and theory in various fields of learning on the function of qualification; and second, to set the direction to strengthen the utilization of national authorized qualification. Based on discussions on the various fields of learning on the function of qualification, this study divided the utilization scope of qualification into personal utilization for the benefit of the qualification acquirer him or herself and public utilization for the social and economic benefits. And according to this distinction, we prepared measures to strengthen the utilization of national authorized qualification. First of all, as a way to strengthen personal utilization of the national authorized qualification, we prepared measures to enhance accessibility and facilitate further improvement. As a means to enhance accessibility, we proposed restriction on setting the application condition, diversification of qualification authorization method, facilitation of partial qualification system and minimization of expense required to acquire qualification. Also for the further improvement, we proposed creation of job-level centered grade system and development of job-level centered qualification item by stage. For strengthening the public utilization of national authorized qualification, we come up with ways of strengthening flexibility, transparency, public trust and compatibility. As a way to strengthen flexibility, we proposed establishment of qualification demand monitoring system, expansion of direct participation of users on qualification management, establishment of qualification expiration period and its renewal. For the strengthening of transparency, we proposed to build general qualification information system and to utilize qualification recommendation system. To strengthen public trust, we proposed to strengthen the management of qualification management regulation, secure independency, establish internal audit system and strengthen post management of national authorized qualification. And lastly, we suggested that compatibility comparison standard between qualification and qualification level standard be developed for the strengthening of compatibility.

A study on the extraction of risk factor and its application for senile dementia patient at home based on accidental cases (사고사례를 통한 재가치매환자의 위험요소 추출 및 그 활용에 관한 연구)

  • Lee, Hang-Woon;Eom, Jin-Sup;Choi, Mi-Hyun;Lee, Soo-Jeong;Choi, Jin-Seung;Moon, Seok-Woo;Tack, Gye-Rae;Chung, Soon-Cheol
    • Science of Emotion and Sensibility
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    • v.12 no.1
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    • pp.11-18
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    • 2009
  • The purpose of this study was, first, to extract the risk factor by investigating several cases of accident of senile dementia patient at home, and second, based on these results to provide basic information for the determination of monitoring factor for the care of senile dementia patient. Basic and behavioral characteristics, Short form of Samsung Dementia Questionnaire (S-SDQ), Activities of Daily Living (ADL), and cases of accident were investigated with 55 senile dementia patient at home (16 male, 39 female). Based on these questionnaires, risk factors were extracted and frequency, cooccurrence frequency, and occurring place of risk factors, presence or not, region, and degree of injury were investigated. Frequency between risk factors and behavioral characteristics, ADL, and S-SDQ was analyzed by crosstabulation frequency analysis. Results showed that 12 risk factors were extracted, and the frequency of 'going out' was the highest, and risk factors for injury were 'tumble', 'bump', 'slip', and 'fall'. Cooccurrence frequency analysis showed that the occurrence of 'fall', 'going out', 'fire of gas', and 'violence' with other factors was relatively higher than others. The occurring place of risk factor was the highest in home neighborhood, and the region of injury in knee, and the degree of injury with bruise. Crosstabulation frequency analysis showed that factors which had difference in frequency of risk factor were behavioral disorder, disorder of daily living and ADL. Factor which had difference in frequency due to the degree of behavioral disorder and disorder of daily living was 'going out', and factors which had difference in frequency due to the degree of ADL were 'slip' and 'fire of gas'.

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Application of Transposable Elements as Molecular-marker for Cancer Diagnosis (암 진단 분자 마커로서 이동성 유전인자의 응용)

  • Kim, Hyemin;Gim, Jeong-An;Woo, Hyojeong;Hong, Jeonghyeon;Kim, Jinyeop;Kim, Heui-Soo
    • Journal of Life Science
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    • v.27 no.10
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    • pp.1215-1224
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    • 2017
  • Until now, various oncogenic pathways were idenfied. The accumulation of DNA mutation induces genomic instability in the cell, and it makes cancer. The development of bioinformatics and genomics, to find the precise and reliable biomarker is available. This biomarker could be applied the early-dignosis, prediction and convalescence of cancer. Recently, Transposable elements (TEs) have been attracted as the regulator of genes, because they occupy a half of human genome, and the cause of various diseases. TEs induce DNA mutation, as well as the regulation of gene expression, that makes to cancer development. So, we confirmed the relationship between TEs and colon cancer, and provided the clue for colon cancer biomarker. First, we confirmed long interspersed nuclear element-1 (LINE-1), Alu, and long terminal repeats (LTRs) and their relationship to colon cancer. Because these elements have large composition and enormous effect to the human genome. Interestingly, colon cancer specific patterns were detected, such as the hypomethylation of LINE-1, LINE-1 insertion in the APC gene, hypo- or hypermethylation of Alu, and isoform derived from LTR insertion. Moreover, hypomethylation of LINE-1 in proto-oncogene is used as the biomarker of colon cancer metastasis, and MLH1 mutation induced by Alu is detected in familial or hereditary colon cancer. The genes, effected by TEs, were analyzed their expression patterns by in silico analysis. Then, we provided tissue- and gender-specific expression patterns. This information can provide reliable cancer biomarker, and apply to prediction and diagnosis of colon cancer.

COATED PARTICLE FUEL FOR HIGH TEMPERATURE GAS COOLED REACTORS

  • Verfondern, Karl;Nabielek, Heinz;Kendall, James M.
    • Nuclear Engineering and Technology
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    • v.39 no.5
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    • pp.603-616
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    • 2007
  • Roy Huddle, having invented the coated particle in Harwell 1957, stated in the early 1970s that we know now everything about particles and coatings and should be going over to deal with other problems. This was on the occasion of the Dragon fuel performance information meeting London 1973: How wrong a genius be! It took until 1978 that really good particles were made in Germany, then during the Japanese HTTR production in the 1990s and finally the Chinese 2000-2001 campaign for HTR-10. Here, we present a review of history and present status. Today, good fuel is measured by different standards from the seventies: where $9*10^{-4}$ initial free heavy metal fraction was typical for early AVR carbide fuel and $3*10^{-4}$ initial free heavy metal fraction was acceptable for oxide fuel in THTR, we insist on values more than an order of magnitude below this value today. Half a percent of particle failure at the end-of-irradiation, another ancient standard, is not even acceptable today, even for the most severe accidents. While legislation and licensing has not changed, one of the reasons we insist on these improvements is the preference for passive systems rather than active controls of earlier times. After renewed HTGR interest, we are reporting about the start of new or reactivated coated particle work in several parts of the world, considering the aspects of designs/ traditional and new materials, manufacturing technologies/ quality control quality assurance, irradiation and accident performance, modeling and performance predictions, and fuel cycle aspects and spent fuel treatment. In very general terms, the coated particle should be strong, reliable, retentive, and affordable. These properties have to be quantified and will be eventually optimized for a specific application system. Results obtained so far indicate that the same particle can be used for steam cycle applications with $700-750^{\circ}C$ helium coolant gas exit, for gas turbine applications at $850-900^{\circ}C$ and for process heat/hydrogen generation applications with $950^{\circ}C$ outlet temperatures. There is a clear set of standards for modem high quality fuel in terms of low levels of heavy metal contamination, manufacture-induced particle defects during fuel body and fuel element making, irradiation/accident induced particle failures and limits on fission product release from intact particles. While gas-cooled reactor design is still open-ended with blocks for the prismatic and spherical fuel elements for the pebble-bed design, there is near worldwide agreement on high quality fuel: a $500{\mu}m$ diameter $UO_2$ kernel of 10% enrichment is surrounded by a $100{\mu}m$ thick sacrificial buffer layer to be followed by a dense inner pyrocarbon layer, a high quality silicon carbide layer of $35{\mu}m$ thickness and theoretical density and another outer pyrocarbon layer. Good performance has been demonstrated both under operational and under accident conditions, i.e. to 10% FIMA and maximum $1600^{\circ}C$ afterwards. And it is the wide-ranging demonstration experience that makes this particle superior. Recommendations are made for further work: 1. Generation of data for presently manufactured materials, e.g. SiC strength and strength distribution, PyC creep and shrinkage and many more material data sets. 2. Renewed start of irradiation and accident testing of modem coated particle fuel. 3. Analysis of existing and newly created data with a view to demonstrate satisfactory performance at burnups beyond 10% FIMA and complete fission product retention even in accidents that go beyond $1600^{\circ}C$ for a short period of time. This work should proceed at both national and international level.