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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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Development of Water-Resistant O/W Emulsion-Typed Sunscreening Cosmetics through Triblock Polymeric Surfactant-Mediated Re-emulsification Inhibition (삼중블록 고분자 계면활성제의 재유화 억제 기능을 이용한 지속내수성 O/W 에멀젼형 자외선 차단용 화장품 개발)

  • Lee, Ji Hyun;Hong, Sung Yun;Lee, Jin Yong;An, So Youn;Lee, Hyo Jin;Kim, Sung Yong;Lee, Jun Bae;Kim, Jin Woong;Shin, Kyounghee
    • Journal of the Society of Cosmetic Scientists of Korea
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    • v.45 no.2
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    • pp.199-208
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    • 2019
  • This study reports water-resistant oil-in-water (O/W) emulsion-based sunscreening formulations prepared using a poly(ethylene glycol)-poly(${\varepsilon}$-caprolactone)-poly(ethylene glycol) (PEG-PCL-PEG) triblock polymeric surfactant. As a result of a variety of outdoor recreational activities such as swimming and hiking, consumer needs for development of advanced water-resistant sunscreen formulations are increasing. Water-resistant sunscreens are mostly based on water-in-oil (W/O) emulsions, because they should not be wiped off by water or sweat. However, the W/O emulsion formulations have a disadvantage in that the feeling of use is oily and difficult to remove. On the other hand, the O/W emulsion formulations are excellent in achieving the better skin feel as well as the easier removal. However, it is difficult to provide the O/W emulsion formulations with the water-repelling performance, since re-emulsification likely occurs upon getting touch with water. To solve this problem, this study proposes a O/W emulsion-based sunscreen formulation, a triblock polymeric surfactant having relatively high interfacial tension HLB value (~ 10). This allows the sunscreen formulations to exhibit the improved water repellence function by preventing their re-emulsification. The sunscreen formation system prepared in this study would be useful for diversification of functional sunscreen products, taking advantages of its excellent emulsion stability, UV protection performance, long lasting water-resistant function and selective cleansing effect with only foam cleanser.

An Analysis of a 100-Years-Old Map of the Heritage Trees in Jeju Island (제주도 노거수 자연유산의 100년 전과 현재 분석)

  • Song, Kuk-Man;Kim, Yang-Ji;Seo, Yeon-Ok;Choi, Hyung-Soon;Choi, Byoung-Ki
    • Journal of the Korean Institute of Traditional Landscape Architecture
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    • v.37 no.2
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    • pp.20-29
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    • 2019
  • The purpose of this study is to verify and reconstruct the record information for big old trees of Jeju on the basis of the precise map of Jeju island in 1918 which was produced 100 years ago. For the analysis of high altitude, coordinate system and georeferencing were performed by selecting representative points using ArcGIS. We extracted digitized information by using point extraction method and extracted attribute information based on legend type and relative size in map. Based on the map of the past 100 years ago, the present situation of the big old tree in Jeju was analyzed and their characteristics were analyzed. In addition, based on the information of the protected big old trees in present, we discussed the characteristics of past tree (1918), present tree (2019), and contribution of big old tree in Jeju landscape and vegetation. As a result, 1,013 individuals were distributed in Jeju Island 100 years ago. Even when it was intensive in the use of timber, the big old trees were protected, and contributed as a representative component of Jeju's unique landscape. The remaining distribution of Jeju's big old tree is 159 trees. As in the past, distribution has been confirmed around the lowlands, but declines in numbers are found throughout the island. The major factors for the decline of individuals are large-scale development projects such as reaching the limit of life, natural disturbance (typhoon, disease, pest, drought, etc.). However, it is presumed that a large number of individuals have played a leading role in shaping the current forests as contributing to important species sources in the restoration process of Jeju vegetation. However, it is presumed that a large number of individuals (405) have played a leading role in forming the present forest by contributing to the species pool in the restoration process of Jeju vegetation.

Analysis of PM2.5 Concentration and Contribution Characteristics in South Korea according to Seasonal Weather Patternsin East Asia: Focusing on the Intensive Measurement Periodsin 2015 (동아시아 지역의 계절별 기상패턴에 따른 우리나라 PM2.5 농도 및 기여도 특성 분석: 2015년 집중측정 기간을 중심으로)

  • Nam, Ki-Pyo;Lee, Dae-Gyun;Jang, Lim-Seok
    • Journal of Environmental Impact Assessment
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    • v.28 no.3
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    • pp.183-200
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    • 2019
  • In this study, the characteristics of seasonal $PM_{2.5}$ behavior in South Korea and other Northeast Asian regions were analyzed by using the $PM_{2.5}$ ground measurement data, weather data, WRF and CMAQ models. Analysis of seasonal $PM_{2.5}$ behavior in Northeast Asia showed that $PM_{2.5}$ concentration at 6 IMS sites in South Korea was increased by long-distance transport and atmospheric congestion, or decreased by clean air inflow due to seasonal weather characteristics. As a result of analysis by applying BFM to air quality model, the contribution from foreign countries dominantly influenced the $PM_{2.5}$ concentrations of Baengnyeongdo due to the low self-emission and geographical location. In the case of urban areas with high self-emissions such as Seoul and Ulsan, the $PM_{2.5}$ contribution from overseas was relatively low compared to other regions, but the standard deviation of the season was relatively high. This study is expected to improve the understanding of the air pollutant phenomenon by analyzing the characteristics of $PM_{2.5}$ behavior in Northeast Asia according to the seasonal weather condition change. At the same time, this study can be used to establish the air quality policy in the future, knowing that the contribution of $PM_{2.5}$ concentration to the domestic and overseas can be different depending on the regional emission characteristics.

Does the Gut Microbiota Regulate a Cognitive Function? (장내미생물과 인지기능은 서로 연관되어 있는가?)

  • Choi, Jeonghyun;Jin, Yunho;Kim, Joo-Heon;Hong, Yonggeun
    • Journal of Life Science
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    • v.29 no.6
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    • pp.747-753
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    • 2019
  • Cognitive decline is characterized by reduced long-/short-term memory and attention span, and increased depression and anxiety. Such decline is associated with various degenerative brain disorders, especially Alzheimer's disease (AD) and Parkinson's disease (PD). The increases in elderly populations suffering from cognitive decline create social problems and impose economic burdens, and also pose safety threats; all of these problems have been extensively researched over the past several decades. Possible causes of cognitive decline include metabolic and hormone imbalance, infection, medication abuse, and neuronal changes associated with aging. However, no treatment for cognitive decline is available. In neurodegenerative diseases, changes in the gut microbiota and gut metabolites can alter molecular expression and neurobehavioral symptoms. Changes in the gut microbiota affect memory loss in AD via the downregulation of NMDA receptor expression and increased glutamate levels. Furthermore, the use of probiotics resulted in neurological improvement in an AD model. PD and gut microbiota dysbiosis are linked directly. This interrelationship affected the development of constipation, a secondary symptom in PD. In a PD model, the administration of probiotics prevented neuron death by increasing butyrate levels. Dysfunction of the blood-brain barrier (BBB) has been identified in AD and PD. Increased BBB permeability is also associated with gut microbiota dysbiosis, which led to the destruction of microtubules via systemic inflammation. Notably, metabolites of the gut microbiota may trigger either the development or attenuation of neurodegenerative disease. Here, we discuss the correlation between cognitive decline and the gut microbiota.

Evaluation of the Economic Value of Potential Ecosystem Services of Unexecuted Urban Planning Facilities - Focused on Urban Green Spaces and Urban Forests in Seoul - (미집행 도시계획시설의 잠재적 생태계 서비스 가치평가 - 서울시 공원 및 녹지를 중심으로 -)

  • Park, Jin-Han;Kim, Song-Yi;Heo, Han-Kyul
    • Journal of the Korean Institute of Landscape Architecture
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    • v.47 no.4
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    • pp.24-32
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    • 2019
  • According to the Ministry of Land, Infrastructure, and Transport, the total area of unexecuted urban planning facilities in Korea is about $1,257km^2$, of which 47% is the unexecuted urban green space and forests. In the case of Seoul, the total area of unexecuted urban planning facilities is about $66km^2$, which is 5.24% of the total unexecuted area in the entire country. In Seoul, approximately 88% of the total unexecuted area is urban green space and forests, which is higher than the national rate. About 92% of the unexecuted urban planning facilities are long-term unexecuted urban planning facilities that are more than 10 years old. This study assessed the economic value of potential ecosystem services, focusing on the regulation service, supporting service, and cultural service, for urban green space and forests of unexecuted urban planning facilities in Seoul by using meta-regression analysis. As a result, the value of the regulation service provided by the urban green space and forests in Seoul was about 16.39 billion KRW, the value of the supporting service was about 5.8 billion KRW, and the cultural service value was about 7.78 billion KRW. The total value of ecosystem services is about 33.93 billion KRW. The values of regulation service and cultural service were the highest, and that was attributed to the characteristics of the downtown area. The significance of this study is to evaluate the value of ecosystem services for unexecuted urban planning facilities in Seoul. The results of this study can be used not only in the process of urban planning or policymaking but also land compensation methods applying the concept of an ecosystem service payment system.

Seismic response characteristics of the hypothetical subsea tunnel in the fault zone with various material properties (다양한 물성의 단층대를 통과하는 가상해저터널의 지진 시 응답 특성)

  • Jang, Dong In;Kwak, Chang-Won;Park, Inn-Joon;Kim, Chang-Yong
    • Journal of Korean Tunnelling and Underground Space Association
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    • v.20 no.6
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    • pp.1061-1071
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    • 2018
  • A subsea tunnel, being a super-sized underground structure must ensure safety at the time of earthquake, as well as at ordinary times. At the time of earthquake, in particular, of a subsea tunnel, a variety of response behaviors are induced owing to relative rigidity to the surrounding ground, or difference of displacement, so that the behavior characteristics can be hardly anticipated. The investigation aims to understand the behavior characteristics switched by earthquake of an imaginary subsea tunnel which passes through a fault zone having different physical properties from those of the surrounding ground. In order to achieve the aim, dynamic response behaviors of a subsea tunnel which passes through a fault zone were observed by means of indoor experiments. For the sake of improved earthquake resistance, a shape of subsea tunnel to which flexible segments have been applied was considered. Afterward, it is believed that a D/B can be established through 3-dimensional earthquake resistance interpretation of various grounds, on the basis of verified results from the experiments and interpretations under various conditions. The present investigation performed 1 g shaking table test in order to verify the result of 3-dimensional earthquake resistance interpretation. A model considering the similitude (1:100) of a scale-down model test was manufactured, and tests for three (3) Cases were carried out. Incident seismic wave was introduced by artificial seismic wave having both long-period and short-period earthquake properties in the horizontal direction which is rectangular to the processing direction of the tunnel, so that a fault zone was modeled. For numerical analysis, elastic modulus of the fault zone was assumed 1/5 value of the modulus of individual grounds surround the tunnel, in order to simulate a fault zone. Resultantly, reduced acceleration was confirmed with increase of physical properties of the fault zone, and the result from the shaking table test showed the same tendency as the result from 3-dimensional interpretation.

Suitability of Migration Testing for Food Packaging Materials Using Tenax® (Tenax®를 이용한 식품포장재의 용출 실험의 적합성)

  • Kim, Hyeong-Jun;Bang, Dae Young;Kim, Min Ho;Lee, Keun Taik
    • KOREAN JOURNAL OF PACKAGING SCIENCE & TECHNOLOGY
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    • v.24 no.3
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    • pp.97-106
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    • 2018
  • This study aimed at examining the suitability of $Tenax^{(R)}$ for the migration testing of food packaging materials, which is currently approved in the EU as a dry food simulant. The results are used as a basis to examine the feasibility of introducing $Tenax^{(R)}$ to Korean regulation. The OMVs of test specimen into various solvents (diethyl ether, ethanol, pentane, and acetone) after exposure to $100^{\circ}C$ for 1 hr were compared. Diethyl ether showed the highest OMV ($1.33mg/dm^2$) among the solvents tested. When the tests were conducted with different amounts of $Tenax^{(R)}$ of 2, 4, or 8 g per specimen, the OMVs were 0.75, 1.33 and $1.40mg/dm^2$, respectively. The OMV obtained with a closed system after wrapping with aluminum foil showed a significantly higher OMV ($1.61mg/dm^2$) than that without aluminum wrapping ($1.318mg/dm^2w$) and an open system without lid ($1.06mg/dm^2$). The specific migration rates of surrogates spiked in the polyethylene test film and paper samples into $Tenax^{(R)}$ were compared with those into liquid food simulants including 95% ethanol and n-heptane, and actual foods such as starch, skim milk, and sugar. In general, the specific migration levels of surrogates into $Tenax^{(R)}$ were similar compared with n-heptane, however those were significantly higher than into actual foods. These results suggest that $Tenax^{(R)}$ may be used as a food simulant for the long-term preservation of dried foods and paper products. However, more studies need to be conducted to investigate the factors influencing the migration into $Tenax^{(R)}$, such as the types of foods and packaging materials tested, migration conditions, and surrogates properties etc.

Development Strategy for New Climate Change Scenarios based on RCP (온실가스 시나리오 RCP에 대한 새로운 기후변화 시나리오 개발 전략)

  • Baek, Hee-Jeong;Cho, ChunHo;Kwon, Won-Tae;Kim, Seong-Kyoun;Cho, Joo-Young;Kim, Yeongsin
    • Journal of Climate Change Research
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    • v.2 no.1
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    • pp.55-68
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    • 2011
  • The Intergovernmental Panel on Climate Change(IPCC) has identified the causes of climate change and come up with measures to address it at the global level. Its key component of the work involves developing and assessing future climate change scenarios. The IPCC Expert Meeting in September 2007 identified a new greenhouse gas concentration scenario "Representative Concentration Pathway(RCP)" and established the framework and development schedules for Climate Modeling (CM), Integrated Assessment Modeling(IAM), Impact Adaptation Vulnerability(IAV) community for the fifth IPCC Assessment Reports while 130 researchers and users took part in. The CM community at the IPCC Expert Meeting in September 2008, agreed on a new set of coordinated climate model experiments, the phase five of the Coupled Model Intercomparison Project(CMIP5), which consists of more than 30 standardized experiment protocols for the shortterm and long-term time scales, in order to enhance understanding on climate change for the IPCC AR5 and to develop climate change scenarios and to address major issues raised at the IPCC AR4. Since early 2009, fourteen countries including the Korea have been carrying out CMIP5-related projects. Withe increasing interest on climate change, in 2009 the COdinated Regional Downscaling EXperiment(CORDEX) has been launched to generate regional and local level information on climate change. The National Institute of Meteorological Research(NIMR) under the Korea Meteorological Administration (KMA) has contributed to the IPCC AR4 by developing climate change scenarios based on IPCC SRES using ECHO-G and embarked on crafting national scenarios for climate change as well as RCP-based global ones by engaging in international projects such as CMIP5 and CORDEX. NIMR/KMA will make a contribution to drawing the IPCC AR5 and will develop national climate change scenarios reflecting geographical factors, local climate characteristics and user needs and provide them to national IAV and IAM communites to assess future regional climate impacts and take action.

A Review on Monitoring Mt. Baekdu Volcano Using Space-based Remote Sensing Observations (인공위성 원격탐사를 이용한 백두산 화산 감시 연구 리뷰)

  • Hong, Sang-Hoon;Jang, Min-Jung;Jung, Seong-Woo;Park, Seo-Woo
    • Korean Journal of Remote Sensing
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    • v.34 no.6_4
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    • pp.1503-1517
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    • 2018
  • Mt. Baekdu is a stratovolcano located at the border between China and North Korea and is known to have formed through its differentiation stage after the Oligocene epoch in the Cenozoic era. There has been a growing interest in the magma re-activity of Mt. Baekdu volcano since 2010. Several research projects have been conducted by government such as Korea Meteorological Administration and Korea Institute of Geoscience and Mineral Resources. Because, however, the Mt. Baekdu volcano is located far from South Korea, it is quite difficult to collect in-situ observations by terrestrial equipment. Remote sensing is a science to analyze and interpret information without direct physical contact with a target object. Various types of platform such as automobile, unmanned aerial vehicle, aircraft and satellite can be used for carrying a payload. In the past several decades, numerous volcanic studies have been conducted by remotely sensed observations using wide spectrum of wavelength channels in electromagnetic waves. In particular, radar remote sensing has been widely used for volcano monitoring in that microwave channel can gather surface's information without less limitation like day and night or weather condition. Radar interferometric technique which utilized phase information of radar signal enables to estimate surface displacement such as volcano, earthquake, ground subsidence or glacial movement, etc. In 2018, long-term research project for collaborative observation for Mt. Baekdu volcano between Korea and China were selected by Korea government. A volcanic specialized research center has been established by the selected project. The purpose of this paper is to introduce about remote sensing techniques for volcano monitoring and to review selected studies with remote sensing techniques to monitor Mt. Baekdu volcano. The acquisition status of the archived observations of six synthetic aperture radar satellites which are in orbit now was investigated for application of radar interferometry to monitor Mt. Baekdu volcano. We will conduct a time-series analysis using collected synthetic aperture radar images.