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A Diagnostic Algorithm of Newborn Screening for Galactosemia (갈락토스혈증의 신생아 선별검사 후 진단 알고리즘)

  • Sohn, Young Bae
    • Journal of The Korean Society of Inherited Metabolic disease
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    • v.15 no.3
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    • pp.101-109
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    • 2015
  • Classic galactosemia (OMIM #230400) is an autosomal recessive inherited metaboic disorder caused by a deficiency of the galactose-1-phosphate uridyltransferase (GALT, EC2.7.7.12) due to mutations in the GALT gene. If untreated, classic galactosemia is a potentially lethal disease presenting with poor feeding, vomiting, jaundice, liver failure, increased bleeding tendency, and septicemia leading to death within a few days after birth. Since 2006, expansion of newborn screening has been enabled the early diagnosis and early intervention of classic galactosemia in Korea. However, newborn screening, followup testing for confirmatory diagnosis and intervention for galactosemia continue to present challenges. In Korea, the prevalence of the classic galactosemia is considered relatively low compared to that of western countries. And the genotype is also clearly different from those of other population. Therefore, our own guideline for confirmatory diagnosis and intervention is needed. Here, the diagnostic algorithm for galactosemia after positive newborn screening result in Korea has been proposed. Considering the low prevalence and different mutation spectrum in Koreans, the early mutation analysis of GALT gene could be a useful tool for the accurate diagnosis and making any treatment decision.

The Study on Recombinant Protein Production using S. cerevisiae Mutant Y334 Suitable for GAL Promoter (GAL promoter에 적합한 효모변이주 Y334의 회분식 배양에서의 재조합 단백질 발현특성)

  • Gang, Hwan-Gu;Lee, Mun-Won;Jeon, Hui-Jin
    • KSBB Journal
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    • v.14 no.4
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    • pp.476-481
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    • 1999
  • S. cerevisiae mutant(reg1-501, gal1), which cannot use galactose and has alleviated glucose repression level, is used as host for optimizing induction of GAL promoter. The optimum concentration of galactose as inducer for recombinant protein production and the galactose consumption rate have been tested with S. cerevisiae mutant and compared with conventional S. cerevisiae. The extent of glucose repression were investigated for both strain and the degradation pattern of produced foreign protein have been compared in both cases. The effect of pH on foreign protein degradation pattern were studied for both strains. The secetion efficiency of both strains were carried out. Through these experiments, optimum condition of recombinant protein production by GAL promoter using S. cerevisiae mutant (reg1-501, gal1) were found.

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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.

고속의 저비용 갈로이스 장원소간의 연산장치설계에 대해

  • 심동욱;권봉열;안형근
    • Review of KIISC
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    • v.16 no.1
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    • pp.112-116
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    • 2006
  • 현대의 디지털통신기기나, 오디오/비데오 전자기기엔 항상 비바이나리 에러정정복부호기가 사용되는데 그중 필수적으로 사용되는 Reed Solomon복부호화기기를 설계할 때, 갈로이스장 내의 원소간 연산이 필수적으로 사용된다. 본논문에선 이 연산장치를 쉽고 빠르게 구현할 수 있는 효율적 설계법을 제시한다. 또한각 연산기에 대해 예를 들어 설명하고 증명했다.

Hydrothermal Pretreatment of Ulva pertusa Kjellman Using Microwave Irradiation for Enhanced Enzymatic Hydrolysis (구멍갈파래의 효소 가수분해 증진을 위한 마이크로파 이용 열수 전처리)

  • Kim, Jungmin;Ha, Sung Ho
    • Korean Chemical Engineering Research
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    • v.53 no.5
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    • pp.570-575
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    • 2015
  • The green algae have cellulose as a main structural component of their cell wall and the cellulose content in green algae is much higher than other marine algae such as brown algae and red algae. Furthermore, green algae do not contain lignin in their cell wall and store starch as food in their plastids. Thus, it was investigated that the effect of hydrothermal pretreatment process utilizing microwave irradiation for Ulva pertusa Kjellman, a division of green algae, which is expected to be utilized for bioenergy production, on the enzymatic hydrolysis. The hydrothermal temperature have an effect on the pretreatment of Ulva pertusa Kjellman, but the effect of power of microwave irradiation is negligible. The rate of enzymatic hydrolysis was increased as the hydrothermal temperature increased until $140^{\circ}C$. The enzymatic hydrolysis of pretreated Ulva pertusa Kjellman under the optimum pretreatment conditions (50 W of microwave irradiation power and $150^{\circ}C$ of hydrothermal temperature) with cellulase, ${\alpha}$-amylase, and Novozyme 188 having ${\beta}$-glucosidase acitivity resulted in the saccharification of 96 wt% of total carbohydrate in Ulva pertusa Kjellman during 3 hrs, while it took 24 hrs for the enzymatic hydrolysis of untreated Ulva pertusa Kjellman. It confirmed that the hydrothermal pretreatment was effective on Ulva pertusa Kjellman for the enzymatic hydrolysis.

A Study on the Adsorption Kinetics of the Heavy Metals, Cd(II) and Pb(II) Ions by the Uiva Pertusa and Hizakia Fusiformis (구멍갈파래 및 톳에 대한 Cd(II), Pb(II) 이온의 흡착속도에 관한 연구)

  • Park, Kwang-Ha;Park, Mi-A;Kim, Ki-Hong;Kim, Young-Ha
    • Analytical Science and Technology
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    • v.12 no.5
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    • pp.360-369
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    • 1999
  • In this research, a study of adsorption kinetics of heavy metal ions on the Ulva pertusa and Hizakia fusiformis which is aiming at removing metal ions from water or every kind has been carried out. During the process of this research. Adsorption kinetics of Cd(II) and Pb(II) ions by the Ulva pertusa and Hizakia fusiformis, within five minutes reached at the maximum adsorption amount. The adsorption amoum by Ulva pertusa was more than the other. Adsorption ratio by Ulva pertusa were 15.0~100% of Cd(II) and 39.2~82.5% of Pb(II). Adsorption ratio by the Hizakia fusiformis were 18.3~100% of Cd(II) and 56.4~94.7% of Pb(II). Additionally, recovery ratio or Cd(II) from the Ulva pertusa presents 75.0~83.6% and that of Pb(II) ions presents 79.1~85.5%. Also, recovery ratio of Cd(II) from Hizakia fusiformis fusiformis were 66.7~85.0% of Cd(II) ions and 77.6~83.9% of Pb(II) ions respectively. As a result of this research. adsorption amount of Cd(II) and Pb(II) ions by Ulva pertusa was more than it by Hizakia fusiformis.

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Development of electrochemical biosensor for determination of galactose (4갈락토오즈 측정을 위한 전기화학적 바이오센서 개발)

  • Park, Kap Soo;Cho, Soon Sam;Quan, De;Lee, Jae Seon;Cha, Geun Sig;Nam, Hakhyun
    • Analytical Science and Technology
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    • v.20 no.5
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    • pp.393-399
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    • 2007
  • In principle, the blood galactose level may be determined conveniently with a strip-type biosensor similar to that for glucose. In this study, we describe the development of a disposable galactose biosensor strip for point-of-care testing. The sensor strip is constructed with screen-printed carbon paste electrode (SPCE) and sample amount (< $100{\mu}L$). The developed strip the galactose level in less than 90 s using bienzymatic system of galactose oxidase (GAO) and horseradish peroxidase (HRP). The effects of pH, mediator (1,1-ferrocenedimethanol) concentration, ratio of enzymes, and applied potential were determined preliminarily with glassy carbon electrodes, and optimized further with the strip-type electrodes. The sensor exhibits linear response in the range of $0{\sim}400{\mu}M$ ($r^2$ = 0.997, S/N = 3). Since a low working potential, in principle, the fabricated disposable galactose biosensor has -100 mV (vs. Ag/AgCl), it is applied for the detection of galactose, interfering responses from common interferents such as ascorbic acid, uric acid and acetaminophen could be minimized. The sensor has been used to determine the total galactose level in standard samples with satisfactory reproducibility (CV = 5 %).

Analyzing the Co-occurrence of Endangered Brackish-Water Snails with Other Species in Ecosystems Using Association Rule Learning and Clustering Analysis (연관 규칙 학습과 군집분석을 활용한 멸종위기 기수갈고둥과 생태계 내 종 간 연관성 분석)

  • Sung-Ho Lim;Yuno Do
    • Korean Journal of Ecology and Environment
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    • v.57 no.2
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    • pp.83-91
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    • 2024
  • This study utilizes association rule learning and clustering analysis to explore the co-occurrence and relationships within ecosystems, focusing on the endangered brackish-water snail Clithon retropictum, classified as Class II endangered wildlife in Korea. The goal is to analyze co-occurrence patterns between brackish-water snails and other species to better understand their roles within the ecosystem. By examining co-occurrence patterns and relationships among species in large datasets, association rule learning aids in identifying significant relationships. Meanwhile, K-means and hierarchical clustering analyses are employed to assess ecological similarities and differences among species, facilitating their classification based on ecological characteristics. The findings reveal a significant level of relationship and co-occurrence between brackish-water snails and other species. This research underscores the importance of understanding these relationships for the conservation of endangered species like C. retropictum and for developing effective ecosystem management strategies. By emphasizing the role of a data-driven approach, this study contributes to advancing our knowledge on biodiversity conservation and ecosystem health, proposing new directions for future research in ecosystem management and conservation strategies.

Pattern and Origin of the Rhyolitic Dike Swarm, Northeastern Cheongsong, Korea (청송 북동부 유문암질 암맥군의 패턴과 성인)

  • Hwang, Sang Koo;Kwon, Tae Ho;Seo, Seung Hwan
    • The Journal of the Petrological Society of Korea
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    • v.24 no.2
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    • pp.91-105
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    • 2015
  • Jungtaesan and Galpyeongji intrusions in the northeastern Cheongsong occur as laccolith and stock which intrude Gasongdong Formation and Dogyedong Formation, respectively. Cheongsong dike swarm, intruding the Dogyedong Formation, is closely associated with this stock. The dike swarm is more radial to focus into Galpyeongji and its outline is oval. The dikes of the dike swarm are only rhyolite dikes with flow banded, spherulitic and rare stony structures, and represents a single intrusive phase of magma. It can be interpretated that orientation of the dikes is controlled by stress states. Therefore, the dikes display a radial pattern through occupying vertical joints that have been generally attributed to radial fractures formed during doming of the sedimentary rocks by the intrusion of the Galpyeongji stock. The dike pattern could sufficiently account for dike injections into these joints.

Removal of ${\alpha}$-Gal Epitopes in Aortic Valve and Pericardium of Pig Using Green Coffee Bean ${\alpha}$-Galactosidase (돼지의 대동맥 판막 및 심낭에서 녹색콩 알파-갈락토시다아제를 이용한 알파-갈 항원결정인자 제거)

  • Park, Seong-Sik;Kim, Woong-Han;Kim, Kyung-Hwan;Lee, Chang-Ha;Choi, Sun-Young;Lee, Cheul;Oh, Sam-Sae;Kim, Kwan-Chang;Kim, Yong-Jin
    • Journal of Chest Surgery
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    • v.41 no.1
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    • pp.12-24
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    • 2008
  • Background: It is currently thought that tissue valve degeneration is related to an animal's immune response, which is mainly due to cell surface ${\alpha}$-Gal epitopes. Cell surface ${\alpha}$-Gal epitopes are known to be degraded by the enzyme called green coffee bean ${\alpha}$-Galactosidase. It is also well known that ${\alpha}$-Gal epitopes are immunologically stained by Griffonia Simplicifolia isolectin type B4. We know that many commercially available tissue valves are made of aortic valves and pericardial tissue of pig. So, we investigated whether ${\alpha}$-Gal epitopes of the aortic valve and pericardial tissue of a pig can be removed by green coffee bean ${\alpha}$-Galactosidase, and we did so by comparing immunologic staining of the tissues before and after the enzyme treatment. Material and method: After treating fresh porcine aortic valve and pericardial tissue with green coffee bean ${\alpha}$-Galactosidase at concentrations of 0.5 unit/mL, 1.0 unit/mL, 2.0 unit/mL, respectively, under the condition of pH 6.5, temperature. $4^{\circ}C$ and 24 hours of incubation, each sample was stained with Griffonia Simplicifolia isolectin type B4 immunpfluorescent labeling. We then examined whether the ${\alpha}$-Gal epitopes were reduced or abolished in each consecutive. concentration of green coffee bean ${\alpha}$-Galactosidase by comparing the degree of the Griffonia Simplicifolia isolectin B4 staining in each sample. Result: In the pig aortic valve tissue, a 1.0 unit/mL concentration of green coffee bean ${\alpha}$-Galactosidase at pH 6.5, $4^{\circ}C$ and reaction for 24 hours was enough for complete removal of ${\alpha}$-Gal epitopes from the cell sur face on the immunostaining with Griffonia Simplicifolia isolectin B4. On the other hand, more ${\alpha}$-Gal epitopes were present in the pig pericardial tissue on Griffonia Simplicifolia isolectin B4 staining before the enzyme treatment, and 1.0 unit/mL of galactosidase was not sufficient for complete removal of ${\alpha}$-Gal from the tissue. 2.0 units/mL of green coffee bean ${\alpha}$-Galactosidase was needed to completely remove the ${\alpha}$-Gal epitopes from the pericardial tissue on immunostaining. Conclusion: The ${\alpha}$-Gal epitopes of the pig's aortic valve and pericardial tissue were successfully stained with Griffonia Simplicifolia isolectin B4. We could remove nearly all the ${\alpha}$-Gal epitopes using green coffee bean ${\alpha}$-Galactosidase at the concentration of 1.0 unit/mL in the aortic valve. Of pig, and 2.0 unit/mL was need to nearly completely remove all the ${\alpha}$-Gal epitopes in the pericardial tissue of pig under the condition of pH 6.5, $4^{\circ}C$ and 24 hours of reaction time. In the near future, removal of ${\alpha}$-Gal epitapes in the pig's aortic valve and pericardial tissue will become a powerful tool for the improvement of the tissue valve durability. It needs to be determined if ${\alpha}$-galactosidase treated pig tissue is immune to human anti-Gal antibody or anit-Gal mooclonal antibodies.