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High Prevalence of Genetic Alterations in Infantile-Onset Cardiomyopathy

Congenital Heart Disease 2021年第4期16卷 397-410页

作者： Junsung Park Go Hun Seo Yena Lee yunha choi 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 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 and Method:The genetic cause of infantile-onset cardiomyopathy is rarely ***,we conducted whole exome sequencing(WES)and mitochondrial DNA(mtDNA)sequencing in eight patients with infantile-onset cardiomyopathy to identify genetic ***:Among these patients,two(25%)had dilated cardiomyopathy(DCMP),two(25%)had left ventricular non-compaction(LVNC),and four(50%)had hypertrophic cardiomyopathy(HCMP).Except four patients identified prenatally,the remaining patients presented at a median age of 85.5 *** identified genetic variants in a total of seven(87.5%)patients and mtDNA sequencing in the other ***1 and MYH7 variants were identified in the two patients with DCMP;MYH11 and MYLK2 variants in the two patients with LVNC;HRAS,BRAF,and MYH7 variants in three patients with HCMP;and MT-ND1 variant in one patient with HCMP having high blood lactic acid *** the eight variants,four were classified as pathogenic or likely-pathogenic according to the American College of Medical Genetics(ACMG)guidelines,and the remaining were identified as variants of unknown significance(VUSs).Three pathogenic mutations were de novo,whereas four(likely-pathogenic or VUSs)were inherited from a respective parent,excluding one variant where parental testing was unavailable,questioning whether these inherited variants are *** patients died before 3 months of ***:Genomic studies,such as WES with additional mtDNA sequencing,can identify a genetic variant in high proportions of patients with infantile-onset *** clinical implication of the parentally inherited variant needs to be assessed in a larger patient and family cohort with a longitudinal follow-up.

关键词： Cardiomyopathy whole exome sequencing infantile-onset

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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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Development of vehicle-recognition method on water surfaces using LiDAR data:SPD^(2)(spherically stratified point projection with diameter and distance)

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Defence Technology（防务技术） 2024年第6期36卷 95-104页

作者： Eon-ho Lee Hyeon Jun Jeon Jinwoo choi Hyun-Taek choi Sejin Lee The Department of Mechanical Engineering Kongju National University1223-24 Cheonan-daeroCheonan 31080Republic of Korea Ocean System Engineering Research Division Korea Research Institute of Ships and Ocean Engineering(KRISO)Daejeon 34103Republic of Korea The Division of Mechanical&Automotive Engineering Kongju National University1223-24 Cheonan-daeroCheonan 31080Republic of Korea

Swarm robot systems are an important application of autonomous unmanned surface vehicles on water *** monitoring natural environments and conducting security activities within a certain range using a surface vehicle,the swarm robot system is more efficient than the operation of a single object as the former can reduce cost and save *** is necessary to detect adjacent surface obstacles robustly to operate a cluster of unmanned surface *** this purpose,a LiDAR(light detection and ranging)sensor is used as it can simultaneously obtain 3D information for all directions,relatively robustly and accurately,irrespective of the surrounding environmental *** the GPS(global-positioning-system)error range exists,obtaining measurements of the surface-vessel position can still ensure stability during platoon *** this study,a three-layer convolutional neural network is applied to classify types of surface *** aim of this approach is to redefine the sparse 3D point cloud data as 2D image data with a connotative meaning and subsequently utilize this transformed data for object classification ***,we have proposed a descriptor that converts the 3D point cloud data into 2D image *** use this descriptor effectively,it is necessary to perform a clustering operation that separates the point clouds for each *** developed voxel-based clustering for the point cloud ***,using the descriptor,3D point cloud data can be converted into a 2D feature image,and the converted 2D image is provided as an input value to the *** intend to verify the validity of the proposed 3D point cloud feature descriptor by using experimental data in the ***,we explore the feasibility of real-time object classification within this framework.

关键词： Object classification Clustering 3D point cloud data LiDAR(light detection and ranging) Surface vehicle

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Synthetic brochosomes:Design,synthesis,and applications

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Nano Research 2024年第2期17卷 734-742页

作者： Lin Wang Jinsol choi Tak-Sing Wong Department of Mechanical Engineering The Pennsylvania State UniversityUniversity ParkPA 16802USA Materials Research Institute The Pennsylvania State UniversityUniversity ParkPA 16802USA Department of Biomedical Engineering The Pennsylvania State UniversityUniversity ParkPA 16802USA

Brochosomes,which are nanoscopic buckyball-shaped granules produced by leafhoppers,are one of the most intricate structures discovered in *** functions of brochosomes have been proposed but only a few have been experimentally validated due to the challenge of fabricating their synthetic *** in micro-and nanofabrication have recently led to the emergence of synthetic brochosomes,opening up new possibilities for innovative *** review explores the early discovery of natural brochosomes and their geometrical features,followed by the recent progress in fabricating synthetic brochosomes and their *** on future applications and challenges in the scalable manufacturing of synthetic brochosomes are discussed.

关键词： synthetic brochosomes leafhopper antireflection superhydrophobicity surface-enhanced Raman scattering photocatalyst energy harvesting

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Correlation between hydration properties and electrochemical performances on Ln cation size effect in layered perovskite for protonic ceramic fuel cells

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Journal of Energy Chemistry 2024年第1期88卷 1-9,I0001页

作者： Inhyeok Cho Jiwon Yun Boseok Seong Junseok Kim Sun Hee choi Ho-Il Ji Sihyuk choi Department of Mechanical Engineering Kumoh National Institute of TechnologyGumi 39177GyeongbukRepublic of Korea Department of Aeronautics Mechanical and Electronic Convergence EngineeringKumoh National Institute of TechnologyGumi 39177GyeongbukRepublic of Korea Center for Energy Materials Research Korea Institute of Science and Technology(KIST)Seoul 02792Republic of Korea Center for Hydrogen and Fuel Cell Research Clean Technology Research DivisionKorea Institute of Science and Technology(KIST)Seoul 02792Republic of Korea Department of Energy and Environmental Engineering University of Science and TechnologySeoul 02792Republic of Korea Nanomaterials Science and Engineering Korea University of Science and Technology(UST)KIST CampusSeoul 02792Republic of Korea

PrBa_(0.5)Sr_(0.5)Co_(1.5)Fe_(0.5)O_(5+δ)(PrBSCF) has attracted much research interest as a potential triple ionic and electronic conductor(TIEC) electrode for protonic ceramic fuel cells(PCFCs). The chemical formula for Pr BSCF is AA'B_(2)O_(5+δ), with Pr(A-site) and Ba/Sr(A'-site) alternately stacked along the c-axis. Due to these structural features, the bulk oxygen ion diffusivity is significantly enhanced through the disorder-free channels in the PrO layer;thus, the A site cations(lanthanide ions) play a pivotal role in determining the overall electrochemical properties of layered perovskites. Consequently, previous research has predominantly focused on the electrical properties and oxygen bulk/surface kinetics of Ln cation effects,whereas the hydration properties for PCFC systems remain unidentified. Here, we thoroughly examined the proton uptake behavior and thermodynamic parameters for the hydration reaction to conclusively determine the changes in the electrochemical performances depending on LnBa_(0.5)Sr_(0.5)Co_(1.5)Fe_(0.5)O_(5+δ)(LnBSCF,Ln=Pr, Nd, and Gd) cathodes. At 500 ℃, the quantitative proton concentration of PrBSCF was 2.04 mol% and progressively decreased as the Ln cation size decreased. Similarly, the Gibbs free energy indicated that less energy was required for the formation of protonic defects in the order of Pr BSCF < Nd BSCF < Gd BSCF. To elucidate the close relationship between hydration properties and electrochemical performances in LnBSCF cathodes, PCFC single cell measurements and analysis of the distribution of relaxation time were further investigated.

关键词： Protonic ceramic fuel cell Cathode Triple ionic and electronic conductor Hydration property Proton uptake Gibbs free energy

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Analysis and Modeling of Mobile Phone Activity Data Using Interactive Cyber-Physical Social System

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Computers, Materials & Continua 2024年第9期80卷 3507-3521页

作者： Farhan Amin Gyu Sang choi School of Computer Science and Engineering Yeungnam UniversityGyeongsan38541Republic of Korea

Mobile networks possess significant information and thus are considered a gold mine for the researcher’s *** call detail records(CDR)of a mobile network are used to identify the network’s efficacy and the mobile user’s *** is evident from the recent literature that cyber-physical systems(CPS)were used in the analytics and modeling of telecom *** addition,CPS is used to provide valuable services in smart *** general,a typical telecom company hasmillions of subscribers and thus generatesmassive amounts of *** this aspect,data storage,analysis,and processing are the key *** solve these issues,herein we propose a multilevel cyber-physical social system(CPSS)for the analysis and modeling of large internet *** proposed multilevel system has three levels and each level has a specific ***,raw Call Detail Data(CDR)was collected at the first ***,the data preprocessing,cleaning,and error removal operations were *** the second level,data processing,cleaning,reduction,integration,processing,and storage were ***,suggested internet activity record measures were *** proposed system initially constructs a graph and then performs network *** proposed CPSS system accurately identifies different areas of internet peak usage in a city(Milan city).Our research is helpful for the network operators to plan effective network configuration,management,and optimization of resources.

关键词： Cyber-physical social systems big data cyber-physical systems pervasive computing smart city big data management techniques

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Learning feature alignment and dual correlation for few‐shot image classification

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CAAI Transactions on Intelligence Technology 2024年第2期9卷 303-318页

作者： Xilang Huang Seon Han choi Department of Electronic and Electrical Engineering Ewha Womans UniversitySeoulSouth Korea Graduate Program in Smart Factory Ewha Womans UniversitySeoulSouth Korea

Few‐shot image classification is the task of classifying novel classes using extremely limited labelled *** perform classification using the limited samples,one solution is to learn the feature alignment(FA)information between the labelled and unlabelled sample *** FA methods use the feature mean as the class prototype and calculate the correlation between prototype and unlabelled features to learn an alignment ***,mean prototypes tend to degenerate informative features because spatial features at the same position may not be equally important for the final classification,leading to inaccurate correlation ***,the authors propose an effective intraclass FA strategy that aggregates semantically similar spatial features from an adaptive reference prototype in low‐dimensional feature space to obtain an informative prototype feature map for precise correlation ***,a dual correlation module to learn the hard and soft correlations was developed by the *** module combines the correlation information between the prototype and unlabelled features in both the original and learnable feature spaces,aiming to produce a comprehensive cross‐correlation between the prototypes and unlabelled *** both FA and cross‐attention modules,our model can maintain informative class features and capture important shared features for *** results on three few‐shot classification benchmarks show that the proposed method outperformed related methods and resulted in a 3%performance boost in the 1‐shot setting by inserting the proposed module into the related methods.

关键词： image classification machine learning metric learning

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Rapid monitoring of indoor airborne influenza and coronavirus with high air flowrate electrostatic sampling and PCR analysis

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Frontiers of Environmental Science & Engineering 2024年第7期18卷 73-85页

作者： Sanggwon An Sangsoo choi Hyeong Rae Kim Jungho Hwang School of Mechanical Engineering Yonsei UniversitySeoul 02876Republic of Korea Gas Metrology Group Korea Research Institute of Standards and Science(KRISS)Daejeon 34113Republic of Korea

The World Health Organization has raised concerns about the possibility of airborne transmission in enclosed and poorly ventilated ***,rapid monitoring of airborne viruses is necessary in multi-use facilities with dense ***,an electrostatic air sampler(250 L/min)was developed in this work to obtain indoor viral aerosol samples for analysis via the Polymerase Chain Reaction(PCR).Aerosol tests with H1N1 and HCoV-229E were performed to evaluate the sample collection *** analysis,along with another aerosol test,was conducted to evaluate the recovery of the virus particles collected by the *** laboratory tests,our electrostatic sampler obtained viral samples that were detectable by PCR under the simulated viral pandemic scenario(3000 RNA copies per cubic meter of air)within 40 *** resulting cycle threshold(C)values were 35.07 and 37.1 for H1N1 and HCoV-229E,*** the performance evaluation in the laboratory,field tests were conducted in a university classroom from October 28 to December 2,*** A and HCoV-229E were detected in two air samples,and the corresponding C,values were 35.3 and *** PCR results are similar to those obtained from laboratory tests,considering the simulatedviralpandemic scenario.

关键词： Airborne virus Electrostatic sampler Rapid monitoring Indoor environment Field test

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Enhancing BiVO_(4)photoanode performance by insertion of an epitaxial BiFeO_(3)ferroelectric layer

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Journal of Energy Chemistry 2024年第2期89卷 71-78,I0003页

作者： Haejin Jang Yejoon Kim Hojoong choi Jiwoong Yang Yoonsung Jung Sungkyun choi Donghyeon Lee Ho Won Jang Sanghan Lee School of Materials Science and Engineering Gwangju Institute of Science and TechnologyGwangju 61005Republic of Korea Department of Materials Science and Engineering Seoul National UniversitySeoul 08826Republic of Korea

BiVO_(4)(BVO)is a promising material as the photoanode for use in photoelectrochemical ***,the high charge recombination and slow charge transfer of the BVO have been obstacles to achieving satisfactory photoelectrochemical *** address this,various modifications have been attempted,including the use of ferroelectric *** materials can form a permanent polarization within the layer,enhancing the separation and transport of photo-excited electron-hole *** this study,we propose a novel approach by depositing an epitaxial BiFeO_(3)(BFO)thin film underneath the BVO thin film(BVO/BFO)to harness the ferroelectric property of *** self-polarization of the inserted BFO thin film simultaneously functions as a buffer layer to enhance charge transport and a hole-blocking layer to reduce charge *** a result,the BVO/BFO photoanodes showed more than 3.5 times higher photocurrent density(0.65 mA cm^(-2))at 1.23 V_(RHE)under the illumination compared to the bare BVO photoanodes(0.18 m A cm^(-2)),which is consistent with the increase of the applied bias photon-to-current conversion efficiencies(ABPE)and the result of electrochemical impedance spectroscopy(EIS)*** results can be attributed to the self-polarization exhibited by the inserted BFO thin film,which promoted the charge separation and transfer efficiency of the BVO photoanodes.

关键词： Photoelectrochemical Photoanode BiVO_(4) Ferroelectric materials BiFeO_(3)

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Nanocrystalline low-silica X zeolite as an efficient ion-exchanger enabling fast radioactive strontium capture

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Frontiers of Chemical Science and Engineering 2024年第9期18卷 15-23页

作者： Hyungmin Jeon Susung Lee Jeong-Chul Kim Minkee choi Department of Chemical and Biomolecular Engineering(BK21 Four) Korea Advanced Institute of Science and Technology(KAIST)Daejeon 34141Republic of Korea Center for Nanomaterials and Chemical Reactions Institute for Basic Science(IBS)Daejeon 34141Republic of Korea

NaA zeolite(Si/Al=1.00)has been commercially applied for capturing radioactive 90Sr^(2+)because of its high surface charge density,effectively stabilizing the multivalent ***,owing to its narrow micropore opening(4.0Å),large micron-sized crystallites,and bulkiness of hydrated Sr^(2+),the Sr^(2+)exchange over NaA has been limited by very slow *** this study,we synthesized nanocrystalline low-silica X by minimizing a water content in a synthesis gel and utilizing a methyl cellulose hydrogel as a crystal growth *** resulting zeolite exhibited high crystallinity and Al-rich framework(Si/Al of approximately 1.00)with the sole presence of tetrahedral Al sites,which are capable of high Sr^(2+)uptake and ion ***,the zeolite with a FAU topology has a much larger micropore opening size(7.4Å)and a much smaller crystallite size(~340 nm)than NaA,which enable significantly enhanced ion-exchange *** to conventional NaA,the nanocrystalline low-silica X exhibited remarkably increased Sr^(2+)-exchange kinetics(>18-fold larger rate constant)in batch *** both the nanocrystalline low-silica X and NaA exhibited comparable Sr^(2+)capacities under equilibrated conditions,the former demonstrated a 5.5-fold larger breakthrough volume than NaA under dynamic conditions,attributed to its significantly faster Sr^(2+)-exchange kinetics.

关键词： Sr^(2+)removal low-silica X zeolite nanocrystal hydrogel methyl cellulose

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