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Evidence from a familial case suggests maternal inheritance of primary biliary cholangitis

World Journal of Gastroenterology 2017年第39期23卷 7191-7197页

作者： Saeam Shin In Ho Moh Young Sik Woo Sung won Jung Jin Bae Kim Ji won Park Ki Tae suk Hyoung Su Kim Mineui Hong Sang Hoon Park Myung Seok lee Department of Laboratory Medicine Kangnam Sacred Heart Hospital Hallym University College of Medicine Division of Gastroenterology and Hepatology Department of Internal Medicine Kangnam Sacred Heart Hospital Hallym University College of Medicine Department of Pathology Kangnam Sacred Heart Hospital Hallym University College of Medicine

Primary biliary cholangitis(PBC) is an idiopathic autoimmune liver disease characterized by chronic cholestasis and destruction of the intrahepatic bile ducts. Similar to other autoimmune diseases, the pathogenesis of PBC is considered to be a complex etiologic phenomenon involving the interaction of genetic and environmental factors. Although a number of common variants associated with PBC have been reported from genome-wide association studies, a precise genetic mechanism underlying PBC has yet to be identified. Here, we describe a family with four sisters who were diagnosed with PBC. After the diagnosis of the index patient who was in an advanced stage of PBC, one sister presented with acute hepatitis, and two sisters were subsequently diagnosed with PBC. Notably, one half-sister with a different mother exhibited no evidence of PBC following clinical investigation. Our report suggests the possibility of a maternal inheritance of PBC susceptibility. Moreover, judging from the highpenetrance of the disease observed in this family, we inferred that a pathogenic genetic variant might be the cause of PBC development. We describe a family that exhibited diverse clinical presentations of PBC that included asymptomatic stages with mildly increased liver enzyme levels and symptomatic stages with acute hepatitis or advanced liver fibrosis. Additional studies are needed to investigate the role of genetic factors in the pathogenesis of this rare autoimmune disease.

关键词：主要胆汁的胆管炎家庭历史基因危险性

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Lithofacies modeling by multipoint statistics and economic evaluation by NPV volume for the early Cretaceous Wabiskaw Member in Athabasca oilsands area, Canada

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Geoscience Frontiers 2018年第2期9卷 441-451页

作者： Kwang Hyun Kim Kyungbook lee Hyun suk lee Chul Woo Rhee Hyun Don Shin Petroleum and Marine Research Division Korea Institute of Geoscience and Mineral Resources Department of Earth and Environmental Sciences Chungbuk National University Department of Energy Resources Engineering Inha University

The static modeling and dynamic simulation are essential and critical processes in petroleum exploration and development. In this study, lithofacies models for Wabiskaw Member in Athabasca, Canada are generated by multipoint statistics(MPS) and then compared with the models built by sequential indicator simulation(SIS). Three training images(Tls) are selected from modern depositional environments;the Orinoco River Delta estuary, Cobequid bay-Salmon River estuary, and Danube River delta environment. In order to validate lithofacies models, average and variance of similarity in lithofacies are calculated through random and zonal blind-well *** random six-blind-well test, similarity average of MPS models is higher than that of SIS model. The Salmon MPS model closely resembles facies pattern of Wabiskaw Member in subsurface. Zonal blind-well tests show that successful lithofacies modeling for transitional depositional setting requires additional or proper zonation information on horizontal variation, vertical proportion, and secondary *** Wabiskaw Member is frontier oilsands lease, it is impossible to evaluate the economics from production data or dynamic simulation. In this study, a dynamic steam assisted gravity drainage(SAGD)performance indicator(SPIDER) on the basis of reservoir characteristics is calculated to build 3 D reservoir model for the evaluation of the SAGD feasibility in Wabiskaw Member. SPIDER depends on reservoir properties, economic limit of steam-oil ratio, and bitumen price. Reservoir properties like porosity,permeability, and water saturation are measured from 13 cores and calculated from 201 well-logs. Three dimensional volumes of reservoir properties are constructed mostly based on relationships among properties. Finally, net present value(NPV) volume can be built by equation relating NPV and SPIDER. The economic area exceeding criterion of US$ 10,000 is identified, and the ranges of reservoir properties are estimated. NPV-volume-generati

关键词： Oilsands Multipoint statistics (MPS) Reservoir static modeling Economic evaluation Net present value (NPV) SAGD, and SPIDER

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Factors Affecting the Genetic Diagnostic Rate in Congenital Heart Disease

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Congenital Heart Disease 2022年第6期17卷 653-673页

作者： Jun Sung Park Go Hun Seo Yunha Choi Soojin Hwang Minji Kang Hyo-Sang Do Young-Hwue Kim Jeong Jin Yu Ellen Ai-Rhan Kim Euiseok Jung Byong Sop lee Jae suk Baek Beom Hee lee Department of Pediatrics Asan Medical CenterUniversity of Ulsan College of MedicineSeoulKorea 3 Billion Inc.SeoulKorea Genome Research Center for Birth Defects and Genetic Diseases Asan Institute for Life SciencesAsan Medical CenterSeoulKorea Division of Cardiology Department of PediatricsAsan Medical CenterUniversity of Ulsan College of MedicineSeoulKorea Division of Neonatology Department of PediatricsAsan Medical CenterUniversity of Ulsan College of MedicineSeoulKorea Medical Genetics Center Asan Medical Center Children’s HospitalUniversity of Ulsan College of MedicineSeoulKorea

Background: Over 400 genes contribute to the development of congenital heart disease (CHD). Additionally,multisystemic manifestations accompanying syndromic CHD pose a higher risk of genetic diseases. This studyinvestigated the diagnostic yield of whole-exome sequencing (WES) in patients with sporadic syndromic CHDand the phenotypic factors affecting the genetic diagnostic rate. Methods: Sixty-four patients with sporadic syndromicCHD aged 0.05), betweenthe groups with and without a diagnostic variant. However, patients with ≥3 extracardiac phenotypes had a significantlyhigher likelihood of having a diagnostic variant than those with ≤2 (38.3% vs. 5.9%, odds ratio = 9.93,95% confidence interval = 1.21–81.44, P = 0.013). Conclusions: The number of extracardiac phenotypes is importantin predicting the possibility of genetic diagnosis. Physicians will be able to select patients with a high probabilityof genetic diagnosis and provide appropriate genetic counseling based on the results of this study.

关键词： Heart defects congenital whole-exome sequencing genetic testing phenotype

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Fabrication and Characterization of Electrodeposited Ni-SiC-h/BN Composite Coatings

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Journal of Materials Science & Technology 2014年第8期30卷 796-802页

作者： Gobinda Gyawali Hyung-suk Kim Khagendra Tripathi Tae-Ho Kim Soo Wohn lee Research Center for Eco-Multifunctional Nano Materials Sun Moon UniversityAsanRepublic of Korea Department of Environmental Engineering Sun Moon UniversityChungnam 336-708Republic of Korea

Ni—SiC—h/BN composite materials were prepared by electrodeposition technique with the dispersion of SiC（10 g/L） and h/BN nanosheets（10 g/L） in a nickel sulfamate electrolytic *** ratio of sodium dodecyl sulfate（SDS） and cetyltrymethyl ammonium bromide（CTAB） surfactants were used to evaluate the effect of surfactants on the properties of the electrodeposited composite *** coating samples were characterized by scanning electron microscopy,X-ray diffraction,Vickers microhardness test,scratch and tribology *** results revealed that the co-deposition of nanoparticles was significantly influenced by surfactants during electrodeposition *** or polyhedral nickel crystallites were observed at higher ratio of SDS/CTAB while smaller oval grains with refined surface morphologies were obtained at lower ratio of SDS/CTAB *** addition,wt%of particles co-deposition was increased,and Vickers microhardness,wear and coefficient of friction of the electrodeposited composite coatings were improved at increased CTAB and decreased SDS contents in the electrolyte during electrodeposition process.

关键词： Ni-SiC-h/BN Composite coating Surfactant Microstructure Scratch Wear

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TOWARDS BEAM HARDENING CORRECTION FOR POLYCHROMATIC X-RAY CT＊

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Journal of Computational Mathematics 2016年第6期34卷 671-682页

作者： Hyoung suk Park Hao Gao Sung Min lee Jin Keun Seo Department of Computational Science and Engineering Yonsei University Seoul South Korea School of Biomedical Engineering and Department of Mathematics Shanghai Jiao Tong University Shanghai China

High-attenuation object-induced streaking and shadow artifacts in computerized to- mography （CT） are somewhat connected to the misfit of the X-ray projection data to the range space of the Radon transform. This misfit is mainly due to the beam hardening factor of the projection data which is unavoidable for polychromatic sources. The major difficulty in dealing with the beam hardening-induced streaking and shadow artifacts comes from its highly nonlinear nature depending on geometries of high attenuation objects. In this work, we investigate the mathematical characteristics of those streaking and shadow artifacts from the structure of the projection data. We also proposed a metal artifacts reduction method by incorporating the recent technique of the nonlinear beam-hardening corrector. Numerical simulations show that the proposed method effectively alleviates the streaking artifacts without changing the background images.

关键词： Computed tomography Metal artifact reduction Beam hardening Radontransform.

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Efficient detection of pathogen virus in sand dabs,Paralichthys olivaceus using loop-mediated isothermal amplification(LAMP)

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Acta Oceanologica Sinica 2016年第8期35卷 44-50页

作者： HWANG Jinik PARK So Yun SUH Sung-suk PARK Mirye lee sukchan lee Taek-Kyun South Sea Environment Research Department Korea Institute of Ocean Science and TechnologyGeoje 53201Republic of Korea Korea University of Science and Technology Daejeon 34113Republic of Korea Department of Genetic Engineering Sungkyunkwan UniversitySuwon 16419Republic of Korea

Viral hemorrhagic septicemia virus（VHSV） and marine birnavirus（MABV） are the causative pathogens for some of the most explosive epidemics of emerging viral diseases in many Asian countries, leading to huge economic losses in aquaculture. Rapid molecular detection for surveillance or diagnosis has been a critical component in reducing the prevalence of pathogen infection. The loop-mediated isothermal amplification（LAMP） of DNA is currently one of the most commonly used molecular diagnostic tools, as it is simple, quick, and easy to amplify target DNA under isothermal conditions. In the present study, a novel and highly specific LAMP assay for the sensitive and rapid detection of VHSV and MABV infection in fish was developed. Using a set of synthesized primers matching a specific region of the genome, the efficiency and specificity of the LAMP assay were optimized in terms of the reaction temperature and DNA polymerase concentration, as they are the main determinants of the sensitivity and specificity of the LAMP assay. In particular, we demonstrated that our assay could be applied to efficient detection of VHSV and MABV infection in the wild fish, Paralichthys olivaceus. Our results demonstrate the simplicity and convenience of this method for the detection of viral infection in aquatic organisms.

关键词： viral hemorrhagic septicaemia virus(VHSV) marine birnavirus(MABV) polymerase chain reaction loop-mediated isothermal amplification

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Comparison of linac-based fractionated stereotactic radiotherapy and tomotherapy treatment plans for intra-cranial tumors

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Chinese Physics C 2010年第11期34卷 1768-1774页

作者： Jang Bo Shim suk lee Sam Ju Cho Sang Hoon lee Juree Kim Kwang Hwan Cho Chul Kee Min Hyun Do Huh Rena lee Dae Sik Yang Young Je Park won Seob Yoon Chul Yong Kim Soo Il Kwon Department of Radiation Oncology College of MedicineKorea University Department of Medical Physics Kyonggi University Department of Radiation Oncology College of MedicineEulji University Department of Radiation Oncology Cheil General Hospital & Women's Healthcare CenterKwandong University College of Medicine Department of Radiation Oncology Soonchunhyang University Boocheon Hospital Department of Radiation Oncology Konyang University Hospital Department of Radiation Oncology Inha University Hospital Department of Radiation Oncology School of MedicineEwha Womans University

This study compares and analyzes stereotactic radiotherapy using tomotherapy and linac-based fractionated stereotactic radiotherapy in the treatment of intra-cranial tumors,according to some *** this study,linac-based fractionated stereotactic radiotherapy and tomotherapy treatment were administered to five patients diagnosed with intra-cranial cancer in which the dose of 18–20 Gy was applied on 3–5 separate *** tumor dosing was decided by evaluating the inhomogeneous index （II） and conformity index （CI）.Also,the radiation-sensitive tissue was evaluated using low dose factors V1,V2,V3,V4,V5,and V10,as well as the non-irradiation ratio volume （NIV）.The values of the II for each prescription dose in the linacbased non-coplanar radiotherapy plan and tomotherapy treatment plan were （0.125±0.113） and （0.090±0.180）,respectively,and the values of the CI were （0.899±0.149） and （0.917±0.114）,*** low dose areas,V1,V2,V3,V4,V5,and V10,in radiation-sensitive tissues in the linac-based non-coplanar radiotherapy plan fell into the ranges 0.3%–95.6%,0.1%–87.6%,0.1%–78.8%,38.8%–69.9%,26.6%–65.2%,and 4.2%–39.7%,respectively,and the tomotherapy treatment plan had ranges of 13.6%–100%,3.5%–100%,0.4%–94.9%,0.2%– 82.2%,0.1%–78.5%,and 0.3%–46.3%,*** the NIV for each organ,it is possible to obtain similar values except for the irradiation area of the brain *** percentages of NIV10%,NIV20%,and NIV30%for the brain stem in each patient were 15%–99.8%,33.4%–100%,and 39.8%–100%,respectively,in the fractionated stereotactic treatment plan and 44.2%–96.5%,77.7%–99.8%,and 87.8%–100%,respectively,in the tomotherapy treatment *** order to achieve higher-quality treatment of intra-cranial tumors,treatment plans should be tailored according to the isodose target volume,inhomogeneous index,conformity index,position of the tumor upon fractionated stereotactic radiosurgery,and radiation dosage for radiation-sensitive tissues.

关键词： fractionated stereotactic radiotherapy tomotherapy treatment plan virtual organ delineation

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Deep-learning-based inverse design model for intelligent discovery of organic molecules

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npj Computational Materials 2018年第1期4卷 103-109页

作者： Kyungdoc Kim Seokho Kang Jiho Yoo Youngchun Kwon Youngmin Nam Dongseon lee Inkoo Kim Youn-suk Choi Yongsik Jung Sangmo Kim won-Joon Son Jhunmo Son Hyo Sug lee Sunghan Kim Jaikwang Shin Sungwoo Hwang Samsung Advanced Institute of Technology Samsung Electronics Co.Ltd.130 Samsung-roYeongtong-guSuwon-siGyeonggi-do 16678Republic of Korea Department of Systems Management Engineering Sungkyunkwan University2066 Seobu-roJangan-guSuwon-siGyeonggi-do 16419Republic of Korea

The discovery of high-performance functional materials is crucial for overcoming technical issues in modern *** efforts have been devoted toward accelerating and facilitating this process,not only experimentally but also from the viewpoint of materials ***,machine learning has attracted considerable attention,as it can provide rational guidelines for efficient material exploration without time-consuming iterations or prior human *** this regard,here we develop an inverse design model based on a deep encoder-decoder architecture for targeted molecular *** by neural machine language translation,the deep neural network encoder extracts hidden features between molecular structures and their material properties,while the recurrent neural network decoder reconstructs the extracted features into new molecular structures having the target *** material design tasks,the proposed fully data-driven methodology successfully learned design rules from the given databases and generated promising light-absorbing molecules and host materials for a phosphorescent organic light-emitting diode by creating new ligands and combinatorial rules.

关键词： inverse learning devoted

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Selectively patterned TiO2 nanorods as electron transport pathway for high performance perovskite solar cells

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Nano Research 2019年第3期12卷 601-606页

作者： Daihong Huh Kyoungsuk Oh Minjin Kim Hak-Jong Choi Dong suk Kim Heon lee Department of Materials Science and Engineering Korea University Anam-ro 145 Sungbuk-Gu Seoul 136-701 Republic cf Korea KIER-UNIST Advanced Center for Energy Korea Institute of Energy Research (KIER) UNIST-Gil 50 Eonyang-eup Ulju-gun Ulsan 689-851 Republic of Korea Department of Electrical and Systems Engineering University of Pennsylvania Philadelphia Pennsylvania 19104 USA

Organic-inorganic hybrid perovskite solar cells (PSCs) are attracting tremendous attention for new-generation photovoltaic devices because of their excellent power conversion efficiency and simple fabrication process. One of the various approaches to increase the efficiency of PSCs is to change the material or structure of the carrier transport layer. Here, optically long and electrically short structural concept is proposed to enhance the characteristics of a PSC by employing selectively grown single crystalline TiO2 nanorods. The approach has the merit of increasing the electro n-hole separati on effectively and en ables a thicker active layer to be coated without electrical loss by using TiO2 nano rods as an electr on pathway. Moreover, selectively grow n TiO2 nano rods in crease the optical path of the in cide nt light via scatteri ng effects and en able a smooth coati ng of the active layer. Nano imprint lithography and hydrothermal growth were employed to fabricate selectively grow n TiO2 nanorod substrates. The fabricated solar cell exhibits an efficiency of 19.86% with a current density, open-circuit voltage, and fill factor of 23.13 mA/cm^2, 1.120 V, and 76.69%, respectively. Time-resolved photoluminescence, ultraviolet-visible (UV-Vis) spectroscopy, and the incident phot on to current efficiency (IPCE) an alysis were conducted to understand the factors resp on sible for the improvement in characteristics of the fabricated PSCs.

关键词： perovskite solar cells patter ned T1O2 nanorods nanoimprint lithography

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Reefs in the Early Paleozoic Taebaek Group,Korea:A Review

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Acta Geologica Sinica(English Edition) 2016年第1期90卷 352-367页

作者： lee Jeong-Hyun HONG Jongsun WOO Jusun OH Jae-Ryong lee Dong-Jin CHOH suk-Joo Department of Earth and Environmental Sciences Korea University Department of Earth and Planetary Sciences University of Tennessee Division of Polar Earth-System Sciences Korea Polar Research Institute Department of Earth and Environmental Sciences Andong National University

Various early Paleozoic （Cambrian Series 3-Middle Ordovician） reefs are found in the Taebaek Group, eastern Korea, located in the eastern margin of the Sino-Korean Block. They occur in every carbonate-dominant lithostratigraphic unit of the group, but their morphology and composition differ markedly. The Daegi Formation （middle Cambrian： Cambrian Series 3） contains siliceous sponge-Epiphyton reefs formed in a shallow subtidal environment, which is one of the earliest metazoan-bearing microbial reefs after the archaeocyath extinction. The Hwajeol Formation （upper Cambrian： Furongian） encloses sporadic dendrolites consisting of Angulocellularia, which developed in a relatively deep subtidal environment, representing a rare deeper water example. The onset of the Ordovician radiation resulted in the formation of microbialite-Archaeoscyphia-calathiid patch reefs in shallow subtidal deposits of the Lower Ordovician Dumugol Formation. Subsequent late Early Ordovician relative sea-level fall established extensive peritidal environments, forming microbial mats and stromatolites of the Lower-Middle Ordovician Makgol Formation. Ensuing Ordovician radiation resulted in one of the earliest metazoan skeletal reefs of the Middle Ordovician Duwibong Formation, constructed by stromatoporoid Cystostroma and bryozoan Nicholsonella, and developed around shallow shoals. These reefs reflect ongoing evolution and sea-level change during the early Paleozoic, and exemplify a rare glimpse of peri-Gondwanan records of reef evolution, which warrant detailed investigations and comparison with their counterparts in other regions.

关键词： carbonate sedimentology metazoans stromatolites Porifera Cambrian-Ordovician Taebaeksan Basin Korea

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