• Title/Summary/Keyword: GALT

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A Comparative Analysis of the GALT Full Version and Short Version Used in the Science Education Researches (과학교육 연구에 사용된 GALT 완본과 축소본에 대한 조사 연구)

  • Kang, Soon-Hee;Noh, Jeong-Won;Park, Jong-Yoon
    • Journal of The Korean Association For Science Education
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    • v.18 no.3
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    • pp.399-413
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    • 1998
  • This study is based upon the survey for the GALT(Group Assessment of Logical Thinking) full version and short version used in the science education researches for investigating the cognitive levels of students in secondary schools. The main discussions include the annual trends of two GALT versions appeared in the research papers, the distributions of the students' cognitive levels obtained by two GALT versions, the purposes of the GALT used in the researches, and the results of two GALT versions applied to the same group of high school students. The summarized results are as follows. The frequency of the GALT short version used in the research papers has been increased recently relative to that of the full version. For the same grade students, the fraction of students in the formal operational cognitive level obtained from the GALT short version was always bigger than those obtained from the full version. The purposes of the GALT employed in the researches are classified into two groups. One group includes the papers in which the subjects were subgrouped into three cognitive levels from GALT results and it was used as an independent variable to analyze the dependent variable. In this case, the analyzed results might be altered depending on the version of GALT used. The other one includes the papers in which the GALT results were used as a covariable or the GALT scores were used directly without subgrouping the subjects by cognitive levels. For this group, the research results would not depend on the GALT version. When both of the GALT versions were tested on the same group of students with two months interval, the fraction of formal operational level obtained from the short version was bigger than that obtained from the full version.

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A Case of Galactosemia with Novel Mutation in the GALT Gene (새로운 GALT 유전자의 돌연변이에 의한 갈락토스혈증)

  • Kim, Shin Ah;Shin, Young Lim;Hong, Yong Hee
    • Journal of The Korean Society of Inherited Metabolic disease
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    • v.13 no.2
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    • pp.126-130
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    • 2013
  • Galactosemia is a metabolic disorder inherited by the recessive autosome, and appears by the deficiency of one enzyme out of GALT (Galactose-1-Phosphate Uridyltransferase), GALK (galactokinase), and GALE (epimerase) enzymes, among which the GALT deficiency disease is denominated as classical galactosemia and known to have symptoms such as severe nausea, jaundice, hepatomegaly, sucking difficulty and so on. We report the case of a 16-day-old female baby with the new p.A101D mutation together with p.N413d in the GALT gene analysis found in the neonatal screening test and diagnosed to have galactosemia by the GALT deficiency through the enzyme analysis. For the prognosis prediction, the treatment, the genetic counseling and the prenatal diagnosis of the patients, more detailed genetic diagnosis is required by performing GALT gene analysis, and it is deemed to be necessary to analyze the correlation between the phenotype and the genotype of the domestic galactosemia patients.

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A Case of Classical Galactosemia caused by Compound Heterozygous Mutations of the GALT Gene (GALT 유전자의 복합 이형 돌연변이에 의한 전형적 갈락토오스혈증 1례)

  • Cheon, Chong-Kun;Cho, Min-Sung;Ko, Jung-Min;Kim, Gu-Hwan;Yoo, Han-Wook
    • Journal of Genetic Medicine
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    • v.5 no.2
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    • pp.131-135
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    • 2008
  • Classical galactosemia is an autosomal recessive disorder of galactose metabolism, caused by a deficiency of the enzyme galactose-1-phosphate uridyltransferase (GALT). Buildup of galactose-1-phosphate is toxic at high levels and can damage the liver, brain, eyes, and other vital organs. The case presented here was that of an 11-day-old female infant who had elevated galatose levels upon initial neonatal screening test with persistent cholestatic jaundice, coagulopathy, and hepatomegaly. The patient was transferred due to aggravation of clinical symptoms including bleeding and jaundice. She had a delayed galactose free diet because of an inappropriate diagnosis. We quickly provided her with a lactose/galactose-restricted diet as per her final diagnosis. Clinical and laboratory results were improved after a few days of treatment. For confirmatory testing for classical galactosaemia, we simultaneously analyzed for GALT enzyme activity and allele-specific PCR/fragments for seven mutations and two polymorphisms in the GALT gene. We were able to find several GALT-deficient and compound heterozygous mutations of the GALT gene.

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Design and Implementation of Time Management Module for IEEE 1516 HLA/RTI (IEEE 1516 HLA/RTI 표준을 만족하는 시간 관리 서비스 모듈의 설계 및 구현)

  • Hong, Jeong-Hee;Ahn, Jung-Hyun;Kim, Tag-Gon
    • Journal of the Korea Society for Simulation
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    • v.17 no.1
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    • pp.43-52
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    • 2008
  • The High Level Architecture(HLA) is the IEEE 1516 standard for interoperation between heterogeneous simulators which are developed with different languages and platforms. Run-Time Infrastructure(RTI) is a software which implements the HLA Interface Specification. With the development of time management service of RTI, it is necessary to consider an efficient design approach and an algorithm of Greatest Available Logical Time(GALT) computation. However, many time management services of existing RTIs have difficulty in modification and extension. Although some RTIs avoid this difficulty through modular design, they comply with not IEEE 1516 HLA/RTI but HLA 1.3. In addition, a lot of RTIs made use of well-known Mattern's algorithm for GALT computation. However, Mattern's algorithm has a few limitations for applying to IEEE 1516 HLA/RTI. This paper proposes a modular design and an implementation of time management service for IEEE 1516 HLA/RTI. We divided th time management service module into two sub-modules: a TIME module and a GALT module and used Mattern's algorithm improved for IEEE 1516 HLARTI. The paper also contains several experimental results in order to evaluate our time management service module.

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The Effect of Algorithm Learning in Real Life Case on Logical Thinking Ability (실생활 속 사례를 통한 알고리즘 학습이 논리적 사고력에 미치는 영향)

  • Kim, Jin-Dong;Yang, Gwon-Woo
    • Journal of The Korean Association of Information Education
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    • v.14 no.4
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    • pp.555-560
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    • 2010
  • The purpose of this study is to investigate the effect of learning algorithm which uses real-life examples including the concept of algorithm on the logical thinking of elementary school students. For this purpose, the experiment was performed by pre-GALT test, a case selection of algorithm which can be taught in real-life, experiment treatment after completing teaching plan, post-GALT test, and paired sample t-test on the results of pre and post GALT in order. As a result, changes in the degree of logical thinking ability and in five sub-regions(conservative logic, proportional logic, combinatorial logic, probabilistic logic, controlling variables) composing of logical thinking obtained statistically significant results in .05 significance level but changes in the correlational logic couldn't obtain the significant results.

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Galactosemia Detected by Neonatal Screening Test (신생아 선별검사에 의해 발견된 갈락토스혈증에 대한 고찰)

  • Park, Il Sung;Cho, Hye Jung;Lee, Dong Hwan;Song, Jung Hwan
    • Clinical and Experimental Pediatrics
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    • v.46 no.5
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    • pp.440-446
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    • 2003
  • Purpose : The genetic disturbance of galactosemia is expressed as a cellular deficiency of either galactose-1-phosphate uridyltransferase(GALT) or galactokinase(GALK) or UDP galactose 4-epimerase(GALE). To find-out the pattern of galactosemia in Korea, we retrospectively analyzed cases of galactosemia detected by neonatal screening program. Methods : We analyzed medical records of patients who visited Soonchunhyang University Hospital at age of 1 month after showing abnormalities in neonatal screening of galactosemia. For accurate diagnosis, galactose was measured by enzyme immunoassay(EIA) and fluorophotometer, also galactose-1-phosphate by fluorophotometer. Enzyme activities of GALK, GALT and GALE in RBC and galactose-1-phosphate were measured by radioisotope assay(RIA). Beutler test were done. Patients went on a lactose-free diet and follow-up tests for galactose, galactose-1-phosphate level and enzyme activity were performed. Results : 10 patients(male : 6, female : 4) were diagnosed as galactosemia. Two patients had GALK deficiency and two had GALT deficiency. Six were GALE deficient showing the largest number. In two patients with GALK deficiency, GALT and GALE activities were normal but GALK activities showed respectively reduced activity. For GALT deficiency, two patients had low GALT activity in RBC and showed genotype of Duarte 2/G(galactosemia) in DNA analysis. In one patient, GALT activity was normal. Three patients seemed to be heterozygote state of GALE deficiency according to GALE activity levels. Four patients showed GALK hyperactivity. Conclusion : GALE deficiency provided the highest number. After lactose-free diet, galactose and galactose-1-phosphate were normaly maintained. Neonatal screening on galactosemia is essential for preventing life-threatening symptoms and an accurate diagnosis is needed for finding out the type of galactosemia which is important for prognosis.

A Twin diagnosed with Duarte Variant/Classical (D/G) Galactosemia (Duarte Variant/Classical Galactosemia (D/G) Heterozygote으로 진단된 일란성 쌍둥이 1례)

  • Koo, Kyo Yeon;Lee, Chul Ho;Yang, Jeong Yoon;Lee, Jin-Sung
    • Journal of The Korean Society of Inherited Metabolic disease
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    • v.12 no.1
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    • pp.58-63
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    • 2012
  • Classical galactosemia (OMIM# 230400) is an autosomal recessive disorder of carbohydrate metabolism, due to a complete loss in galactose-1-phosphate uridyltransferase (GALT; E.C.2.7.7.12) enzyme activity. It caused by mutations in the GALT gene (OMIM$^*$ 606999) that is located at chromosome 9p13. The GALT enzyme deficiency results in a build-up of galactose and galactose-1-phosphate, causing life threatening complications such as feeding problems, failure to thrive, hepatocellular damage, bleeding and sepsis. However, Duarte galactosemia, a variant form of GALT deficiency, has residual GALT enzyme activities in erythrocytes and do not have manifest the symptoms of classical galactosemia. Since the advent of newborn screening (NBS) for galactosemia, we rarely encounter such overwhelmingly ill newborns. The positive NBS with no symptoms indicates the possibility of Duarte galactosemia besides a simple false positive and it has to be differentiated from classical galactosemia which is a medical emergency. In Korea, detection rate of Duarte galactosemia is very low and its genetic information is restrictive, too. We report a case of monozygotic twins with D/G galactosemia compound heterozygote in proven by the mutational analysis of GALT gene, which revealed N314D polymorphism and -119 to -116 delGTCA.

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구강내 면역계에 대한 기본 고찰

  • Kim, Seong-Min
    • The Journal of the Korean dental association
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    • v.40 no.8 s.399
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    • pp.620-627
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    • 2002
  • Oral health depends on the intergrity of the oral mucosa for prevention of the penetration of microbes and macromolecules that might be infectious, allergenic or antigenic. The intraoral immune systems include the tonsils, adenoids and nasopharyngeal-associated lymphoreticular tissue, or NALT. Mucosal inductive sites of the gastrointestinal tract(Peyer's patches and the appendix) and solitary lymph nodes collectively compose the gut-associated lymphoreticualr tissue, or GALT system. Both NALT and GALT are inductive regions where foreign antigens derived from viruses, bacteria, yeast and other molecules are encountered. The integration of tissues in NALT and GALT as part of the mucosal immune system, is very important to keep the oral immune system.

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Advanced HPLC Diagnostic Method for Galactosemia Using 8-Amino-2- naphthalenesulfonic acid.

  • Lee, Sang-Soo;Hong, Seon-Pyo;Yoon, Hye-Ran
    • Proceedings of the PSK Conference
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    • 2003.10b
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    • pp.214.4-215
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    • 2003
  • In galactose metabolic pathway : there are three inborn metabolic disorders galactokinase deficiency (galactosemia type II), galactose-1-phosphate uridyl transferase(GALT) daficiency (galactosemia type I ), uridine diphosphate galactose-4-epimerase deficiency (galactosemia typeIII). Among these disorders GALT deficiency is the most severe and common. Infants with GALT deficiency fail to metabolize galactose-1-phosphate. As a consequence, galactose-1-phosphate and galactose are accumulated in blood in which GALS enzyme plays the role of a pathognomonic marker. (omitted)

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Effects on Metacognition and GALT Logical Thinking Ability in Programming Educations using Squeak e-toy (스퀵 e-toy 프로그래밍 교육을 통한 메타인지 및 GALT 논리 사고력 향상 효과 분석)

  • Jong, You-Rim;Hur, Kyeong
    • Journal of The Korean Association of Information Education
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    • v.14 no.2
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    • pp.199-207
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    • 2010
  • This paper is proposed to present elementary algorithmic thinking-based Squeak E-toy programming problems for flowchart-based programming educations without programming languages in elementary programming educations. Furthermore, this paper proves the validity and effects of developed Squeak E-toy programming problems through measurement analyses of metacognition and GALT logical thinking ability experiments by comparing with the language-based traditional programming education.

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