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A Case of Hunter Syndrome Diagnosed at 7 Months of Age by Exome Sequencing (엑솜시퀀싱을 통해 생후 7개월에 진단된 헌터증후군)

  • Song, Ari;Lee, Jin Sung;Im, Minji;Park, Hyung Doo;Cho, Sung Yoon;Jin, Dong-Kyu
    • Journal of The Korean Society of Inherited Metabolic disease
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    • v.18 no.2
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    • pp.62-67
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    • 2018
  • Hunter syndrome, also known as mucopolysaccharidosis Type II (MPS II), is one of the lysosomal storage diseases caused by a lack of the enzyme iduronate 2-sulfatase (I2S). Lack of the I2S enzyme activity leads to accumulation of the glycosaminoglycans (GAG), causing dysfunction of multiple organs and systems. MPS II is an X-linked recessive disease due to mutation of IDS gene located on long arm of the X chromosome (Xq28). To date, more than 350 mutations of IDS gene have been identified in Hunter syndrome. Phenotypes of MPS II are classified as either severe or attenuated depending on the degree of cognitive impairment. Because the phenotype of MPS II is related to the type of mutation, identifying mutations is useful in predicting prognosis. We recently had a case of MPS II diagnosed by exome sequencing in a 7 month old boy with infantile spasm uncontrolled by AED. He was diagnosed with hearing loss at 2 months of age, and he took vigabatrin and prednisolone to control infantile spasms diagnosed at 3 months of age. At 6 months of age, whole exome sequencing was performed to evaluate the infantile spasm and hearing loss in this patient, and the mutation c.851C>T (p.Pro284Leu) inherited from hemizygous mother was revealed. The results of urine Cetylpyridinium Chloride (CPC) precipitation test, which were negative until 8 months of age, were positive from 9 months of age. We report a case of MPS II diagnosed by exome sequencing and treated through enzyme replacement therapy from 9 months after birth.

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Studies on Antioxidant Activity and In Vitro Inhibitory Activity of Tyrosinase and Collagenase in Artocarpus nitidus subsp. lingnaensis (Merr.) F.M. Jarrett using 4 Parameter Logistic (변수 분석을 통한 아토카푸스 니티두스 추출물과 분획물의 항산화, 타이로시나제 및 콜라제나제 In Vitro 저해활성 연구)

  • Son, Kwang-Hee;Kim, Young Kook;Choi, Sangho;Zhang, Zhiyun;Shin, Dong-Ha;Lee, Jong Suk;Park, Ho-Yong
    • Journal of the Society of Cosmetic Scientists of Korea
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    • v.45 no.2
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    • pp.161-173
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    • 2019
  • In this study, the antioxidative and inhibitory activity of tyrosinase and collagenase for the solvent extract and silica column fractions of Artocarpus nitidus were evaluated. The activities were quantified using the 4 parameter logistic. LC/MS analysis showed that the major component of the fractions was polyphenol and the total polyphenol content of the extract was $48.1{\pm}2.6mg\;GAE/g$. The radical scavenging activities ($SC_{50}$) for 1,1-diphenyl-2-picrylhydrazyl of the extract, fraction-1 and fraction-2 were 16.7, 42.0 and $10.1{\mu}g/mL$, respectively. The value for fraction-2 was the closest to ascorbic acid ($1.5{\mu}g/mL$). The tyrosinase inhibitory activity of the extracts and the fractions showed $IC_{50}$ of 64.9, 0.9 and $1.2{\mu}g/mL$, respectively, and overall activity was higher than that of kojic acid ($7.4{\mu}g/mL$) and arbutin ($119.0{\mu}g/mL$). In the experiment by zebrafish embryo, the whitening activity of fraction-2 (27.5%) was higher than that of kojic acid (18.6%), and there was no adverse effect up to $500{\mu}g/mL$ of fraction-2. For the collagenase inhibitory activity, the samples showed $IC_{50}$ of 139.8, 20.6, and $16.8{\mu}g/mL$, respectively, which were competitive to 1, 10-Phenanthroline ($55.4{\mu}g/mL$). The extract and fraction-2 showed $IC_{50}$ of 61.8 and $67.1{\mu}g/mL$ for elastase. These results suggest that A. nitidus extract can be used as a cosmetic material useful for antioxidant, whitening, and prevention of skin aging without adverse effects.

Mytilin B, an Antimicrobial Peptide from the Hemocyte of the Hard-shelled Mussel, Mytilus coruscus : Isolation, Purification, and Characterization (참담치(Mytilus coruscus) 혈구(hemocyte) 유래 항균 펩타이드 mytilin B의 정제 및 특성 분석)

  • Lee, Min Jeong;Oh, Ryunkyoung;Kim, Young-Ok;Nam, Bo-Hye;Kong, Hee Jeong;Kim, Joo-Won;Park, Jung Youn;Seo, Jung-Kil;Kim, Dong-Gyun
    • Journal of Life Science
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    • v.28 no.11
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    • pp.1301-1315
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    • 2018
  • We purified an antimicrobial peptide from the acidified hemocyte extract of Mytilus coruscus by $C_{18}$ reversed-phase high-performance liquid chromatography (RP-HPLC). The peptide was 4041.866 Da based on matrix-assisted laser desorption ionization time-of-flight mass spectrophotometer (MALDI-TOF/MS) and the 25 amino acids of the N-terminus sequence were identified. Comparison of this sequence of the purified peptide with the N-terminus sequences of other antimicrobial peptides revealed 100% identity with the mytilin B precursor of Mytilus coruscus. We also identified a 312 bp open-reading frame (ORF) encoding 103 amino acids based on the obtained amino acid residues. The nucleotide sequence of this ORF and the amino acid sequence also revealed 100% identity with the mytilin B precursor of Mytilus coruscus. We synthesized two antimicrobial peptides with an alanine residue in the C-terminus, and designated them mytilin B1 and B2. These two antimicrobial peptides showed antimicrobial activity against gram-positive bacteria, including Bacillus cereus and Streptococcus parauberis (minimal effective concentration, MECs $41.6-89.7{\mu}g/ml$), gram-negative bacteria, including Enterobacter cloacae, Escherichia coli, Klebsiella pneumoniae, Proteus mirabilis, Providencia stuartii, Pseudomonas aeruginosa, and Vibrio ichthyoenteri (MECs $7.4-39.5{\mu}g/ml$), and the fungus Candida albicans (MECs $26.0-31.8{\mu}g/ml$). This antimicrobial activity was stable under heat and salt conditions. Furthermore, the peptides did not exhibit significant hemolytic activity or cytotoxic effects. These results suggest that mytilin B could be applied as alternative antibiotic agent, and they add to the understanding of the innate immunity of hard-shelled mussels.

Biosynthesis of Silver Nanoparticles Using Microorganism (미생물을 이용한 은 나노입자 생합성)

  • Yoo, Ji-Yeon;Jang, Eun-Young;Hong, Chang-Oh;Kim, Keun-Ki;Park, Hyean-Cheal;Lee, Sang-Mong;Kim, Young-Gyun;Son, Hong-Joo
    • Journal of Life Science
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    • v.28 no.11
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    • pp.1354-1360
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    • 2018
  • The aim of this study was to develop a simple, environmentally friendly synthesis of silver nanoparticles (SNPs) without the use of chemical reducing agents by exploiting the extracellular synthesis of SNPs in a culture supernatant of Bacillus thuringiensis CH3. Addition of 5 mM $AgNO_3$ to the culture supernatant at a ratio of 1:1 caused a change in the maximum absorbance at 418 nm corresponding to the surface plasmon resonance of the SNPs. Synthesis of SNPs occurred within 8 hr and reached a maximum at 40-48 hr. The structural characteristics of the synthesized SNPs were investigated by various instrumental analysis. FESEM observations showed the formation of well-dispersed spherical SNPs, and the presence of silver was confirmed by EDS analysis. The X-ray diffraction spectrum indicated that the SNPs had a face-centered cubic crystal lattice. The average SNP size, calculated using DLS, was about 51.3 nm and ranged from 19 to 110 nm. The synthesized SNPs exhibited a broad spectrum of antimicrobial activity against a variety of pathogenic Gram-positive and Gram-negative bacteria and yeasts. The highest antimicrobial activity was observed against C. albicans, a human pathogenic yeast. The FESEM observations determined that the antimicrobial activity of the SNPs was due to destruction of the cell surface, cytoplasmic leakage, and finally cell lysis. This study suggests that B. thuringiensis CH3 is a potential candidate for efficient synthesis of SNPs, and that these SNPs have potential uses in a variety of pharmaceutical applications.

A Study on the Experiential Cognition of Child Care Teachers' Rights (보육교사의 권리에 대한 경험적 인식 연구)

  • Yi, Seoyoung;Yang, Sungeun
    • Korean Journal of Child Education & Care
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    • v.18 no.4
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    • pp.39-50
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    • 2018
  • Objective: Social attention is paid to the issues concerning child care teachers' work multisibility and ambiguous legal status. Child care teachers are employees based on the "Labor Standards Act" and the "Child Care Act". They also play the role of kindergarten teachers based on the "Childhood Education Act" because of the Nuri curriculum. Based on the main tasks of the child care teachers who protect and nurture infants and toddlers, the Nuri curriculum education for infants is conducted. However, the duties and rights of child care teachers are disproportionate because there are many areas where teachers' professional roles do not suit their legal rights. Methods: The purpose of this study is to investigate how teachers perceive their own rights through field experience using qualitative method based on interpretative epistemology. Participants were 61 child care teachers working in the metropolitan area and used protocol description and focus group interview (FGI) for data collection. The collected data were derived as a central theme according to the data analysis method proposed by Creswell (2013). Results: Participants in the study described the 'Right and autonomy of education as a professional occupation', 'Right to request for improvement on working conditions, guarantee of living and to request for welfare system' and 'Right to guarantee of a teacher's status and adjustment of grievance.' They pointed out poor working conditions and welfare benefits at daycare centers, and emphasized that education and autonomy are necessary conditions to be strengthened for quality child care activities. On the other hand, they did not realize that 'Right to guarantee of a teacher's status and adjustment of grievance' was their right. And they have endured the infringement of this right. Conclusion/Implications: This study reveals the gap between teachers' responsibilities and rights, indicating the urgency of institutional arrangements. It is discussed that the social expectation for strengthening personality and professionalism as an infant and child specialist is increased and a practical alternative for the improvement of the right of teachers working in the child care field is needed considering the change of values about work.

Comparison of Educators and Students' Perception of Evaluation Criteria for Admission to Career and Technical High Schools: A Case Study (특성화고등학교 미래인재전형의 평가기준에 대한 교사와 학생의 인식비교 : 서울시교육청 특성화고 사례를 중심으로)

  • Cho, Sung Ran;Lee, Hwa-Yeong;Han, jiyoon;Ye, Cheol-Hae;Shin, Changho
    • (The)Korea Educational Review
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    • v.24 no.1
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    • pp.227-254
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    • 2018
  • This study examines differences in perception between applicants and admissions committee members regarding evaluation criteria for admission to career and technical high schools in Seoul. This investigation, based on "The survey on policy for career and technical high school admissions," seeks to explore and consider the various criteria for selecting and evaluating students. The target populations of the survey were the educators in charge of admission and freshmen in Seoul career and technical high schools. We report three major findings, with the first pertaining to the existing criteria and policies for admission to career and technical high schools. While educators agreed with the intent and reasoning behind the school's competitive spots, they were overall dissatisfied with the selection method and the lack of a requirement for academic transcripts. Matriculated students, in comparison, expressed greater satisfaction with the existing criteria for admission. Secondly, when assessing the importance of various evaluation components in an application, educators viewed the interview and attendance record as the most valuable components of the application, followed by future plans, personal statement, volunteer work, and portfolio, in order of decreasing importance. Students ranked attendance record, interview, personal statement, portfolio, future plans, and volunteer work as most to least important components of their application. Thus, students regarded the personal statement and portfolios as being of higher priority than did the educators. The last major finding pertained to students' rationale for applying and educators' selection criteria. At the time of application, students focused on aptitude and job prospects after graduation, while educators valued personality and competence. In summary, the applicants' viewpoints and actions aligned much more closely with the mission of the Seoul Metropolitan Office of Education than did those of the educators in charge of admission. Thus, in order to establish a consensus between the policy and mission of career and technical high schools, each career and technical high school should clarify the exact criteria for their ideal candidate. There is also a need to bridge the gap in perception between the applicants and educators regarding selection strategy, to establish a harmonized evaluation criteria. These goals are necessary to attract and recruit talented, bright individuals who will meet the demands of today's society.

Stress distribution of molars restored with minimal invasive and conventional technique: a 3-D finite element analysis (최소 침습적 충진 및 통상적 인레이 법으로 수복한 대구치의 응력 분포: 3-D 유한 요소 해석)

  • Yang, Sunmi;Kim, Seon-mi;Choi, Namki;Kim, Jae-hwan;Yang, Sung-Pyo;Yang, Hongso
    • Journal of Dental Rehabilitation and Applied Science
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    • v.34 no.4
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    • pp.297-305
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    • 2018
  • Purpose: This study aimed to analyze stress distribution and maximum von Mises stress generated in intracoronal restorations and in tooth structures of mandibular molars with various types of cavity designs and materials. Materials and Methods: Three-dimensional solid models of mandible molar such as O inlay cavity with composite and gold (OR-C, OG-C), MO inlay cavity with composite and gold (MR-C, MG-C), and minimal invasive cavity on occlusal and proximal surfaces (OR-M, MR-M) were designed. To simulate masticatory force, static axial load with total force of 200 N was applied on the tooth at 10 occlusal contact points. A finite element analysis was performed to predict stress distribution generated by occlusal loading. Results: Restorations with minimal cavity design generated significantly lower values of von Mises stress (OR-M model: 26.8 MPa; MR-M model: 72.7 MPa) compared to those with conventional cavity design (341.9 MPa to 397.2 MPa). In tooth structure, magnitudes of maximum von Mises stresses were similar among models with conventional design (372.8 - 412.9 MPa) and models with minimal cavity design (361.1 - 384.4 MPa). Conclusion: Minimal invasive models generated smaller maximum von Mises stresses within restorations. Within the enamel, similar maximum von Mises stresses were observed for models with minimal cavity design and those with conventional design.

Effects of Corni Fructus on Testosterone-induced Benign Prostatic Hyperplasia in Sprague Dawley Rats (Sprague Dawley 흰쥐에서 테스토스테론에 의하여 유발된 전립선 비대증에 미치는 산수유 추출물의 영향)

  • Kwon, Da He;Hwangbo, Hyun;Choi, Eun Ok;Kim, Min Yeong;Ji, Seon Yeong;Kim, Kyung-Il;Park, No-Jin;Kim, Sung Ok;Hong, Su-Hyun;Park, Cheo;Hwang, Hye-Jin;Jeong, Ji-Suk;Choi, Yung Hyun
    • Journal of Life Science
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    • v.28 no.12
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    • pp.1507-1515
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    • 2018
  • Benign prostatic hyperplasia (BPH) is characterized by prostatic hypertrophy mainly in the elderly. Corni Fructus is reportedly effective in the prevention and treatment of various diseases, but its efficacy on BPH has not been previously studied. In the present study, we investigated whether or not a Corni Fructus water extract (CF) could prevent testosterone-induced prostatic hyperplasia in rats. To induce BPH, castrated rats were subcutaneously injected with testosterone propionate (TP). CF was administered daily by oral gavage, along with the TP injections, and finasteride, a selective inhibitor of $5{\alpha}$-reductase type 2, was used as a positive control. The results show that CF significantly reduces prostate weight and histopathologic changes while also decreasing levels of serum dihydrotestosterone, similar to the finasteride-treated group. CF also suppresses TP-induced $5{\alpha}$-reductase expression and concentration in prostate tissue and serum, respectively. Furthermore, CF markedly inhibited TP-induced expression of the androgen receptor (AR) and the steroid receptor coactivator 1, an AR coactivator, which was associated with a decrease in prostate-specific antigen levels in both serum and prostate tissue. In conclusion, the results of this study indicate that CF weakens BPH status by inactivation of $5{\alpha}$-reductase and AR.

Analysis of Competency of Nursing Teacher in Specialized Vocational High School (특성화고등학교 간호과 교사의 역량 분석)

  • Yoon, In-Kyung;Jang, Myung-Hee;Kwak, Mi-sun;Park, Ji-Young
    • Journal of vocational education research
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    • v.37 no.3
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    • pp.85-111
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    • 2018
  • The purpose of this study is to derive the competence of nursing teacher in Specialized vocational high school. The knowledge, skills, and attitudes required for the nursing teachers were verified and the competency groups and sub-competencies were verified and priorities were suggested. To do this, 23 nursing teachers who were currently working in the Specialized vocational high school were selected as expert panels and the study was conducted using Delphi and Layered Analysis(AHP) technique. The results of this study were as follows. First, the competency group of the nursing teacher in Specialized vocational high school showed teaching and learning methods & techniques, student guidance, curriculum development and operation, school management support, industry-academy cooperation, self-development and professionalism improvement. The total number was 6. Second, the sub-competency is composed of knowledge and skills related to the curriculum, planning and preparation of instruction, instruction operation, guidance of experiment and practice, instruction evaluation, development and utilization of teaching and learning medium, instruction environment, guidance on student education activities outside the curriculum, career guidance, life guidance, class management, guidance of technology and qualification, development of school curriculum, organization and operation of school curriculum, planning and operation of field practice, work planning, school management support, teacher evaluation and personnel management support, leaning support(practice place and equipment), establishment and operation of industry-academia cooperation, strengthening community cooperation, public relations in the school(department), field research for improvement of educational activities, participation in conferences and training, exploration of new knowledge and technology, The total number was 26. The most important of the relative importance was the curriculum development and operation. The subordinate competencies that have a high priority in each competency group were guidance of experiment and practice, guidance of technology and qualification, planning and operation of field practice, leaning support(practice place and equipment), management and work planning, establishment and operation of industry-academia cooperation, exploration of new knowledge and technology. The competency system derived from this study will be applied to the training and evaluation of nursing teachers in the future and can be used as basic data for related research.

Effects of Artificial CO2 Release in Soil on Chlorophyll Content and Growth of Pinus densiflora and Quercus variabilis Seedlings (토양 내 인위적인 이산화탄소 누출에 따른 소나무와 굴참나무 묘목의 엽록소 함량과 생장 반응)

  • Kim, Hyun-Jun;Han, Seung Hyun;Kim, Seongjun;Chang, Hanna;Son, Yowhan
    • Journal of Korean Society of Forest Science
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    • v.107 no.4
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    • pp.351-360
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    • 2018
  • This study was conducted to analyze the responses of chlorophyll contents and growth of Pinus densiflora and Quercus variabilis seedlings on distance from the well and $CO_2$ flux after the artificial $CO_2$ release. From June 1 to 30, 2016, $CO_2$ gas was injected at the rate of $6L\;min^{-1}$ at the study site in Eumseong. Chlorophyll content was analyzed in the middle of July, 2016, and root collar diameter (RCD), height (H), and biomass were measured in May and December, 2016 after planting 2-year-old P. densiflora and 1-year-old Q. variabilis seedlings in May, 2015. The chlorophyll content of P. densiflora seedlings did not show a significant correlation with $CO_2$ flux, whereas the chlorophyll content of Q. variabilis seedlings showed a significant negative correlation with increasing $CO_2$ flux (P<0.05). The RCD and H growth rates of both species showed the significant difference in the distance from the well of the $CO_2$ anthropogenic release treatment. In particular, the RCD and H growth rate of P. densiflora seedlings and the RCD growth rate of Q. variabilis seedlings increased significantly as the seedlings were closer to the well, but the H growth rate of Q. variabilis seedlings decreased significantly. In addition, as the $CO_2$ concentration in the ground increases, ${\Delta}R/S$ ratio increases in both species, suggesting that the high $CO_2$ concentration in the soil promotes carbon distribution relative to the root part. The results of this study can be used as data necessary to monitor the $CO_2$ leakage and physiological and growth responses of both species to leakage of stored $CO_2$ in the future.