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A Long Term Follow Up Two Cases of Lesch-Nyhan Syndrome Pink Diaper (Lesch-Nyhan 증후군 장기 추적관찰: 분홍 기저귀)

  • Jae Young Kim;Wung Joo Song;Bong-Ok Kim;Harvey L. Levy;Sook Za Kim
    • Journal of The Korean Society of Inherited Metabolic disease
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    • v.24 no.1
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    • pp.26-36
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    • 2024
  • Lesch-Nyhan syndrome (LNS) is an Clinical symptoms can range from mild to severe depending on residual enzyme activity and genetic mutations. In Korea, 27 cases of LNS have been reported. We report the results of an 11-year comparative follow-up of two cases of children who visited because of pink diapers, one who died from LNS with no residual enzymes and one case with partial residual enzymes. Case 1: During follow-up, seizures, developmental delay, and regression were observed. The boy experienced insomnia and severe constipation. He exhibited self-mutilating behavior, a grand mal seizure, scoliosis with severe spasticity, truncal hypotonia, choreoathetoid movement, and ataxia. After prolonged emaciation, staghorn calculi, and recurrent pneumonia, the patient died suddenly at the age of 11 years. Genetic testing revealed a hemizygous HPRT1 variant (c.151C>T (p.Arg51Ter)). Uric acid level was 10.5 mg/dL (normal range: ~3.5-7.9) and HPRT activity 0.02 nmol/hr/spot (10-23.8 nmol/hr/spot). Case 2: During follow-up, the patient remained underweight. He has normal intelligence attending primary school. Self-mutilation symptoms were not observed. Regular renal ultrasonography did not reveal urolithiasis. The patient had a hemizygous HPRT1 variant (c.35A>C (p.Asp12Ala)). Uric acid level and HPRT activity were 11 mg/dL and 0.56 nmol/hr/spot. Pink diapers after the neonatal period and severe protein aversion, neurological problems, and kidney stones, differentiation for LNS is necessary. When suspected, serum uric acid levels, HPRT enzyme activity, and molecular biological tests may be helpful in predicting the prognosis of LNS.

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Efects of Biodegradable Mulching Films Containing Rice Powder on Sweetpotato Growth (쌀 분말이 함유된 생분해성 멀칭필름이 고구마 생육에 미치는 영향)

  • Sin Young Park;Ju Hyun Im;Eun Byul Go;Kil Ja Kim;Jae Min Park;Dong Kwan Kim
    • KOREAN JOURNAL OF CROP SCIENCE
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    • v.69 no.2
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    • pp.123-132
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    • 2024
  • In this study, two types of biodegradable film prototypes were produced using plastic resin containing rice powder. The application of these biodegradable films in sweetpotato (Ipomoea batatas L. Lam) fields and their impacts of plant growth, yield, and the soil environment were assessed, in comparison with Polyethylene (PE) film. The light transmittance of the biodegradable film containing 30% of 350 mesh rice powder (BF30-350RP) was 0.8%, which was lower than the 2.0% light transmittance of the biodegradable film containing 40% of 500 mesh rice powder (BF40-500RP) and 2.7% light transmittance of PE film. Surface temperature measurements on clear day indicated that the PE film exhibited the lowest temperature, with the minimal difference observed between BF40-500RP and BF30-350RP. Assessment of the damage ratio resulting from agricultural work revealed a ranking of 0.4% for the PE film, 3.3% for BF500-400RP, and 5.3% for BF350-30RP. Visible decomposition of BF40-500RP and BF30-350RP commenced after 40 and 30 days of outdoor exposure, reaching 62.3% and 70.4% decomposition at 90 days post-exposure, respectively. The decomposition of biodegradable films applied to sweetpotato fields progressed more slowly in BF40-500RP than in BF30-350RP. The BF40-500RP film on the surface of the ridges was decomposed by 5%, 30%, 55%, and 90% after 30, 60, 90, and 120 days after planting sweetpotato cuttings, respectively. Both types of biodegradable films at the ridge and furrow borders were completely decomposed after 75 days of sweetpotato planting. In a field where the surface was sealed by mulching without growing sweetpotatoes, the soil moisture and its deviation were lower in the order of PE film, BF40-500RP, and BF30-350RP, but the differences were not significant. The soil temperature was higher for PE film mulching than for the biodegradable films containing rice powder, but the differences were small. Two months after sweetpotato planting, the daily average soil moisture decreased by 2.5%point for BF30-350RP mulching, 1.5%point for BF40-500RP mulching, and 1.1%point for PE film mulching over seven days. Soil temperature was similar for both biodegradable film mulches, but increased steadily for the PE film mulch, reaching a daily average of 0.1℃ higher than for the biodegradable films. Sweetpotato vine growth and tuber yield were similar for all the mulching films tested.

Effects of Different Altitudes and Cultivation Methods on Growth and Flowering Characteristics of Elsholtzia splendens (재배지대와 유형이 꽃향유의 생육 및 개화 특성에 미치는 영향)

  • Young Min Choi;Jin Jae Lee;Dong Chun Cheong;Hong Ki Kim;Hee Kyung Song;Seung Yoon Lee;So Ra Choi;Hyun Ah Han;Han Na Chu
    • Korean Journal of Plant Resources
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    • v.37 no.4
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    • pp.392-400
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    • 2024
  • This study was conducted to find the flowering and growth characteristics according to the different altitudes (plains and mid-mountain regions) and cultivation methods (field and plastic houses cultivation) of Elsholtzia splendens. Experimental regions located at 12 meters and 500 meters above sea level were selected for the plains and the mid-mountain, respectively, and the same method was applied for cultivation management by different altitudes and cultivation methods. In the mid-mountain region, flower bud emergence (2-3 days), flowering (9 days), and full bloom (6-7 days) stages of Elsholtzia splendens were earlier than in the plains, and field cultivation was earlier than plastic house cultivation. The plant height, the main stem diameter, and the number of branches tended to increase gradually after an initial rapid growth at 59 to 69 days after planting date. The days of duration of sunshine (less than 8 hours) from the rainy season (June 20) to the period when vegetative growth increases gradually (59 to 69 days after planting) was 22 to 29 days and 26 to 35 days in the plains and the mid-mountain regions respectively, and this period was estimated time of transition from vegetative growth to reproductive growth. The spikes growth of Elsholtzia splendens by cultivation altitudes was higher in the mid-mountain region than in the plains, and there were no statistically significant differences in growth characteristics except for the main stem diameter, the number of branches, and the dry matter. Also, the amount of flowering and growth was higher in the plastic house cultivation compared to the field cultivation. As a result, some differences in flowering amount were observed when cultivating Elsholtzia splendens for landscaping purposes, but it was considered possible to cultivate in both plains and mid-mountain regions. This study therefore provides ecological information for understanding the relationship between weather characteristics and growth of Elsholtzia splendens.

Screening of Valuable Naked Oat (Avena sativa L.) Germplasms through Comparison of Agronomic Traits (주요 농업형질 비교를 통한 쌀귀리 유용 유전자원 탐색)

  • Jin-Cheon Park;Chang-Hyun Lee;Young-Mi Yoon;Yu-Young Lee;Myoung-Jae Shin;On-Sook Hur
    • Korean Journal of Plant Resources
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    • v.37 no.4
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    • pp.411-422
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    • 2024
  • Naked oat is particularly vulnerable to cold weather among cereal crops, and frequent lodging due to their long culm length. Also it is difficult to cultivate in double cropping system with rice because of late maturity in Korea. In this study, we charaterized 71 naked oat germplasms including two control varieties with agronomic traits, to select superior resources and use them for the improvement of exsiting varieties. The maturity date was May 26th for 'Joyang' and June 1st for 'Daeyang', and there were 5 resources including IT302003, which was earlier than Daeyang. In the case of culm length, the distribution ranged from 62 to 124 cm, and there were 13 resources, including IT209241, that were shorter than 'Joyang' (84 cm) and 'Daeyang' (83 cm). In correlation analysis of agronomic traits, the highest positive correlation (r=0.89) was observed between days to heading and days to maturity. In addition, culm length and spike length (r=0.72) and days to heading (r=0.50) showed a positive correlation. However, Barley yellow dwarf virus(BYDV) and grain yield (r=-0.30), lodging tolerance and liter weight (r=-0.37) showed a negative correlation. Cluster analysis, resources with similar traits such as liter weight, husk ratio, days to heading, and days to maturing were subclassified. Through this analysis, 6 resources, including IT302002 (X345-1-B4-20-1), which had short culm length, early maturity, and cold tolerance compared to 'Joyang' and 'Daeyang', were selected. Among the selected excellent resources, the avenanthramide content of the four resources was IT302002 (325.18 ㎍/g), K000010 (557.3㎍/g), K253299 (447.33 ㎍/g), and K253301 (440.49 ㎍/g), respectively, which was higher than 'Daeyang' (301.97 ㎍/g). These excellent resources will be used as breeding materials for the development of new varieties in the future.

Characterization of epitaxial layers on beta-gallium oxide single crystals grown by EFG method as a function of different crystal faces and off-angle (EFG 법으로 성장시킨 β-Ga2O3 단결정의 다양한 결정면, off-angle에 따른 epitaxial layer의 특성 분석)

  • Min-Ji Chae;Sun-Yeong Seo;Hui-Yeon Jang;So-Min Shin;Dae-Uk Kim;Yun-Jin Kim;Mi-Seon Park;Gwang-Hee Jung;Jin-Ki Kang;Hae-Yong Lee;Won-Jae Lee
    • Journal of the Korean Crystal Growth and Crystal Technology
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    • v.34 no.4
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    • pp.109-116
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    • 2024
  • β-Ga2O3 is a representative ultra-wide bandgap (UWBG) semiconductor that has attracted much attention for power device applications due to its wide-bandgap of 4.9 eV and high-breakdown voltage of 8 MV/cm. In addition, because solution growth is possible, it has advantages such as fast growth rate and lower production cost compared to SiC and GaN [1-2]. In this study, we have successfully grown Si-doped 10 mm thick Si-doped β-Ga2O3 single crystals by the EFG (Edge-defined Film-fed Growth) method. The growth direction and growth principal plane were set to [010] / (010), respectively, and the growth speed was 7~20 mm/h. The as-grown β-Ga2O3 single crystal was cut into various crystal planes (001, 100, ${\bar{2}}01$) and off-angles (1o, 3o, 4o), and then surface processed. After processed, the homoepitaxial layer was grown on the epi-ready substrate using the HVPE (Halide vapor phase epitaxy) method. The processed samples and the epi-layer grown samples were analyzed by XRD, AFM, OM, and Etching to compare the surface properties according to the crystal plane and off-angle.

Relationships between Above-ground Carbon Stock and Species and Structural Diversity in South Korean Forests (우리나라 산림의 지상부 탄소저장량과 종 다양성 및 구조적 다양성과의 관계)

  • Heon Mo Jeong;Eui Joo Kim;Jae Hoon Park;Hae Ran Kim
    • Korean Journal of Ecology and Environment
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    • v.57 no.3
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    • pp.123-133
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    • 2024
  • To analyse the relationship between above-ground carbon stocks, species diversity and broadleaved forests structural diversity of South Korean forests, we collected vegetation inventories from environmental impact assessment projects over the past 10 years. The available data were selected and organised including tree species, DBH and area each projects. The data was classified by forest type, aboveground carbon stocks were calculated and compared, and the correlation between aboveground carbon stocks and biodiversity and structural diversity was analysed. The results showed that above-ground carbon stocks were higher in mixed forests and broadleaved forests and lower in needleleaved forests, similar to previous studies. However aboveground carbon stocks of mixed forests were higher in natural forests than in plantations. Aboveground carbon stocks in broadleaved forests were higher in plantations than natural forests, and there was no statistical different of between natural and plantations in needleleaved forest. This could be the result of a variety influences including biological and environmental factors in the study area, and further research is needed to analyse the effects on carbon sequestration. Correlation analysis showed no correlation between biodiversity and above-ground carbon stocks, but a positive correlation between structural diversity and above-ground carbon stocks. This indicates that above-ground carbon stocks in forests are associated with unevenness diameters and the proportion and evenness of tree species by diameter. In addition, it has been analysed that the high succession stages in forest have higher species diversity and structural diversity, and greater efficiency in the utilization of resources required for plant growth, leading to increased plant productivity and storage. Considering that the study sites were young forests with an average DBH of 14.8~23.7 cm, it is expected that carbon stocks will increase as biodiversity and structural diversity increase. Further research is needed to develop techniques to quantitatively assess the relationship of diversity to carbon stocks for policy use in assessing and increasing carbon stocks in forests.

A Study on the Mind Theory of the JeongJae School of Cho Geung-seop and the Hanju school of Kwak Jong-seok (정재학파 조긍섭과 한주학파 곽종석의 심론 고찰)

  • An Yoo-kyoung
    • Journal of the Daesoon Academy of Sciences
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    • v.49
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    • pp.295-329
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    • 2024
  • This article reveals their theoretical differences by examining the interpretation of the mind theory of Cho Geung-seop (1873~1933) and Kwak Jong-seok (1846~1919). The characteristic of Cho Geung-seop's mind theory is that it is simhapligi (心合理氣 the mind is a combination of principles and internal energy). It is a position to recognize the role and status of Gi as an action while also acknowledging Li as the presidency of mind. In this theory, Li can exist only when there is Gi, and the presidency mind is thereby possible. For this reason, Cho Geung-seop criticized Kwak Jong-seok, who insisted on simjeokli (心卽理 the mind is precisely principles) from the perspective of simhapligi. The characteristic of Kwak Jong-seok's theory of mind lies in simjeokli. Although the mind is not without Gi, it is because of Li that the mind can preside over one body such that it can be described as simjeokli. Accordingly, Kwak Jong-seok criticized Cho Geung-seop, who insisted on simhapligi from the perspective of simjeokli. In addition, their theories of mind leads to problems of perception, such as whether to see perception as a Gi or a Li. If Cho Geung-seop could be said to have interpreted the perception of deliberation as spiritual Gi, then Kwak Jong-seok interpreted the perception as spiritual Li. According to Cho Geung-seop, the perception of mind is possible due to "spiritual Gi," and at this time, the action of spiritual Gi is the perception of the mind. In the end, there is a perception action corresponding to spiritual Gi. Thereby, the mind should not be interpreted directly as a Li in Kwak Jong-seok's theory. According to Kwak Jong-seok, perception is possible by applying the novelty of Li to the mind. The perception of mind is not the action of spiritual Gi as it is in Cho Geung-seop's model, but it is rather the result of spiritual Li making it new. Accordingly, Kwak Jong-seok criticized Cho Geung-seop for not knowing simjeokli properly because he understood the perception of mind as an action of Gi.

The Reordering Works of Heaven and Earth in Daesoon Thought and the Horizon of the Earthly Paradise from the Perspective of Cultural Ecologism: Focusing upon the Sustainable Gaze of Dissolution and Reconciliation (문화생태주의에서 본 대순사상의 천지공사와 지상선경의 경계 - 해소와 화해의 지속가능한 시선 -)

  • Kim Yon-jae
    • Journal of the Daesoon Academy of Sciences
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    • v.49
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    • pp.93-125
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    • 2024
  • The article takes a critical perspective that reunderstanding the canon of Daesoon Thought is necessary to expand its application to the needs of modern society given the rapid speed of societal changes. The key point is the emergence of a cultural ecologism within Daesoon Thought. What is called the cultural ecologism is focused upon the sustainable horizon of unifying culture and ecology in the organic structure of a total-life culture. A reciprocal unity of culture and ecology is characteristic of a coherent whole with an original unitary process in the circle of Nature. Cultural ecologism, therefore, aims at seeking after the sustainability of culture wherein the value of culture is integrated in the grand stream of the ecological spirit of Nature. In the Late Joseon Dynasty, Daesoon Thought paid attention to the Great Opening (開闢) to secure the people's livelihoods and it offered edification concerning anti-feudalism in a dimension of realistic awareness which guided people's lives. The process of the Great Opening functions as a process for the world of the Reordering Works of Heaven and Earth (天地公事) which culminate in the experience the Earthly Paradise (地上仙境) of the Later World (後天). In the cultural ecologism of Daesoon Thought, this course is equivalent to a process of Haewon (grievance-resolution) in the sense of dissolution and reconciliation. From the wide umbrella of cultural ecologism, consequently, it is possible to say that Daesoon Thought can arrive at the reality of the Earthly Paradise (地上仙境) through the Great Opening of the Later World, in which human beings can enjoy the infinite vitality of the universe from within their own finite vitality.

Inhibitory Effect on Kaempferia Parviflora Ethanol Extract of IL-1β Induced Inflammation and MMP Expression in CHON-001 Cells (흑생강 추출물의 CHON-001 세포에서의 IL-1β로 유도된 염증과 MMPs 발현)

  • Jeong Ah Lee;Hye Min Seol;Seong Un Jeong;Jae Hyeon Yoon;Jeong Soo Bae;Tae Hee Kim;Hyeong Soo Kim
    • Journal of Life Science
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    • v.34 no.8
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    • pp.558-566
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    • 2024
  • The potential therapeutic effects of Kaempferia Parviflora ethanol extract (KPE) on osteoarthritis were investigated using the human chondrocyte cell line (CHON-001) to explore its application in functional foods. The CHON-001 cells were pre-treated with either 1 ㎍/ml or 5 ㎍/ml of KPE before exposure to 10 ng/ml of IL-1β to induce osteoarthritis. Results showed that KPE treatment significantly suppressed IL-1β-induced TNF-α production by 66% and 50% at concentrations of 1 ㎍/ml and 5 ㎍/ml KPE, respectively. In addition, COX-2 protein expression was reduced by 26% and 34% compared to control levels. The preservation of chondrocyte-specific matrix proteins, aggrecan, and collagen type II, was notable, with aggrecan and mRNA levels maintained by 5% and 8%, and collagen II levels preserved by 62% and 47% at the same KPE concentrations. This preservation is likely due to the reduced expression of MMP1 and MMP13, enzymes responsible for matrix protein degradation. Overall, the current results suggest that KPE may protect chondrocytes from IL-1β-induced osteoarthritis by suppressing TNF-α production and COX-2 expression while preserving critical matrix proteins like aggrecan and collagen II by suppressing the expressions of their degrading enzymes (MMP-1 and MMP-13). Therefore, KPE holds promise as a candidate for developing functional foods aimed at reducing osteoarthritis.

Evaluation of Genetic Safety in Genome-editing Rice Through Comparative Analysis of Genetic and Agronomic Traits (유전적 특성과 농업형질의 비교분석을 통한 유전자 교정 벼의 안전성 평가)

  • Seung-Kyo Jeong;Dohyeong Gwon;Bae-Hyeon Lee;Jeong-Hwan Suh;Rahmatullah Jan;Jae-Ryoung Park;Taehun Ryu;Kyung-Min Kim
    • Journal of Life Science
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    • v.34 no.8
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    • pp.567-575
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    • 2024
  • New breeding techniques (NBT) recognize specific DNA sequences and remove, modify, or insert DNA at a desired location, and can be used to treat genetic diseases in humans or to improve the traits of livestock or crops. In this study, we conducted a comparative analysis of various agricultural traits and assessed the safety of gene transferability in third-generation genome-editing rice (OsCKq1-G3) with T and G nucleotide insertions developed using the CRISPR/Cas9 SDN-1 method, in comparison to its parental line (Oryza sativa L., cv Ilmi). The analyzed traits included heading date, culm length, panicle length, tiller number, yield, germination rate, viviparous germination rate, shattering, after wintering seed viability, the presence of toxins and allergens. The target trait, heading date, exhibited a high significant difference of approximately 5 days. Culm length, panicle length, tiller number, yield showed no significant differences compared to the parental line. No T-DNA bands indicating gene transfer were detected. In the third generation of genome-edited rice, the T-DNA was confirmed to be eliminated as successive generations advanced through self-pollination. Through the analysis of germination rate, viviparous germination rate, shattering, and after wintering viability, we confirmed that the genome-editing rice has no potential for weediness. The ORF and amino acid sequences of the genome-editing rice did not reveal any toxins and allergens. The results of this study can be utilized as important data for the environmental risk assessment of genome-editing rice.