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Immunity Genes and Susceptibility to Otitis Media:A Comprehensive Review

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Journal of Genetics and Genomics 2014年第11期41卷 567-581页

作者： Rahul Mittal Giannina Robalino Robert Gerring Brandon Chan denise yan M'hamed Grati Xue-Zhong Liu Department of Otolaryngology University of Miami Miller School of Medicine Department of Human Genetics University of Miami Miller School of Medicine Department of Biochemistry University of Miami Miller School of Medicine

Otitis media （OM） is a middle ear infection associated with inflammation and pain. This disease frequently afflicts humans and is the major cause of hearing loss worldwide. OM continues to be one of the most challenging diseases in the medical field due to its diverse host targets and wide range of clinical manifestations. Substantial morbidity associated with OM is further exacerbated by high frequency of recurrent infections leading to chronic suppurative otitis media （CSOM）. Children have greater susceptibility to, and thus, suffer most frequently from OM, which can cause significant deterioration in quality of life. Genetic factors have been demonstrated, in large part by twin and family studies, to be key determinants of OM susceptibility. In this review, we summarize the current knowledge on immunity genes and selected variants that have been associated with predisposition to OM. In particular, polymorphisms in innate immunity and cytokine genes have been strongly linked with the risk of developing OM. Future studies employing state-of-the-art technologies, including next-generation sequencing （NGS）, will aid in the identification of novel genes associated with susceptibility to OM. This, in turn, will open up avenues for identifying high-risk individuals and designing novel therapeutic strategies based on precise targeting of these genes.

关键词： Otitis media Genetics Innate immunity Cytokines

The genetic basis of deafness in populations of African descent

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Journal of Genetics and Genomics 2017年第6期44卷 285-294页

作者： Jason R.Rudman Rosemary I.Kabahuma Sara E.Bressler Yong Feng Susan H.Blanton denise yan Xue-Zhong Liu Department of Otolaryngology University of Miami Miller School of Medicine Department of Otorhinolaryngology Steve Biko Academic HospitalUniversity of Pretoria Department of Otolaryngology Xiangya HospitalCentral South University Dr. John T.Macdonald Foundation Department of Human Genetics University of Miami Miller School of Medicine John P.Hussman Institute for Human Genomics University of Miami Miller School of Medicine

Hearing loss is the most common sensorineural disorder worldwide and is associated with more than1000 mutations in more than 90 genes. While mutations in genes such as GJB2(gap-junction protein β 2)and GJB6(gap-junction protein β 6) are highly prevalent in Caucasian, Asian, and Middle Eastern populations, they are rare in both native African populations and those of African descent. The objective of this paper is to review the current knowledge regarding the epidemiology and genetics of hearing loss in African populations with a focus on native sub-Saharan African populations. Environmental etiologies related to poor access to healthcare and perinatal care account for the majority of cases. Syndromic etiologies including Waardenburg, Pendred and Usher syndromes are uncommon causes of hearing loss in these populations. Of the non-syndromic causes, common mutations in GJB2 and GJB6 are rarely implicated in populations of African descent. Recent use of next-generation sequencing(NGS) has identified several candidate deafness genes in African populations from Nigeria and South Africa that are unique when compared to common causative mutations worldwide. Researchers also recently described a dominant mutation in MYO3α in an African American family with non-syndromic hearing loss. The use of NGS and specialized panels will aid in identifying rare and novel mutations in a more cost-and timeeffective manner. The identification of common hearing loss mutations in indigenous African populations will pave the way for translation into genetic deafness research in populations of African descent worldwide.

关键词： Genetic Hearing loss Deafness African

Electrophysiology and genetic testing in the precision medicine of congenital deafness:A review

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Journal of Otology 2021年第1期16卷 40-46页

作者： Kevin Y.Zhan Oliver F.Adunka Adrien Eshraghi William J.Riggs Sandra M.Prentiss denise yan Fred F.Telischi Xuezhong Liu Shuman He Department of Otolaryngology e Head&Neck Surgery The Ohio State University Wexner Medical CenterColumbusOHUSA Department of Audiology Nationwide Children’s HospitalColumbusOHUSA Department of Otolaryngology e Head&Neck Surgery University of Miami Miller School of MedicineMiamiFLUSA Dr.John T.MacDonald Foundation Department of Human GeneticsUniversity of Miami Miller School of MedicineMiamiFLUSA

Background:Congenital hearing loss is remarkably heterogeneous,with over 130 deafness genes and thousands of variants,making for innumerable genotype/phenotype *** both the pathophysiology of hearing loss and molecular site of lesion along the auditory pathway permits for significantly individualized *** techniques such as electrocochleography(ECochG)and electrically-evoked compound action potentials(eCAP)are being studied to localize pathology and estimate residual cochlear *** *** review describes the expanding roles of genetic and electrophysiologic evaluation in the precision medicine of congenital hearing *** basics of genetic mutations in hearing loss and electrophysiologic testing(ECochG and eCAP)are reviewed,and how they complement each other in the diagnostics and prognostication of hearing *** together,these measures improve the understanding of insults to the auditory system,allowing for individualized counseling for CI candidacy/outcomes or other habilitation ***:Despite tremendous discovery in deafness genes,the effects of individual genes on neural function remain poorly *** the understanding between molecular genotype and neural and functional phenotype is paramount to interpreting genetic results in clinical *** future hearing healthcare provider must consolidate an ever-increasing amount of genetic and phenotypic information in the precision medicine of hearing loss.

关键词： Electrophysiology Genetics Hearing loss ECAP ECocHG

Towards Data-Driving Multi-View Evaluation Framework for Scratch

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Tsinghua Science and Technology 2024年第2期29卷 517-528页

作者： Xiaolin Chai yan Sun yan Gao Department of Computer Science Beijing University of Posts and TelecommunicationBeijing 100876China Intellectual Property Institute Shandong Polytechnic CollegeJining 272067China

As one of the most popular visual programming languages,Scratch has a lot of evaluation around *** evaluation can help programmers understand their projects *** the same time,it can also provide a reference for them to browse other projects in the online *** of the existing evaluations on Scratch are carried from three perspectives:Computational Thinking(CT)ability,visual presentation aesthetics,and code *** them,the assessment of CT and code quality is mainly carried out from the program script,while the evaluation of visual aesthetics is analyzed from the perspective of image sequences generated by project *** single-view evaluation focuses on the performance of a program in a certain aspect and is *** this paper,we propose a multi-view evaluation framework to integrate various evaluations using different *** quantitatively analyze the assessment of different views driven by *** with overall evaluations that represent human opinions,we analyze their differences and *** experiments,we determine the weights of different integration policies,the proposed multi-view evaluation method can generate evaluation results similar to human opinions.

关键词： Scratch Computational Thinking(CT) visual aesthetic static analysis integration policy machine learning

Forward to the Special Topic on“Solving Differential Equations with Deep Learning”

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Journal of Systems Science & Complexity 2024年第2期37卷 389-390页

作者： yan Zhenya Academy of Mathematics and Systems Science Chinese Academy of SciencesBeijing 100190China

The concept of artificial intelligence(AI)was first presented at the Dartmouth SummerResearch Project on AI hosted by McCarthy and Minsky in *** that,the developmentof AI has experienced ups and downs due to some limited conditions including intelligentcomputing techniques,computer and hardware and software^([1,2]).In particular,with the rapidof deep artificial neural networks,machine learning(ML)and deep learning(DL)techniques^([3,4])have been applied in many fields of science and engineering,including machine translation,image recognition,genomics,scientific computing and atmospheric science,etc^([5]).

关键词： has artificial hardware

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中国人群遗传性耳聋研究进展

中华耳科学杂志 2006年第2期4卷 81-89页

作者：刘学忠欧阳小梅 denise yan 袁永一袁慧军美国迈阿密大学耳鼻咽喉科迈阿密佛罗里达33136 中国人民解放军总医院耳鼻喉研究所北京100853

耳聋有着复杂的病因学特点,遗传和/或环境因素均可致聋。120多个耳聋相关基因的发现为我们了解听觉的病理生理机制提供了新的视点。然而,最近的研究表明在中国相当一部分综合征性和非综合征性耳聋仅由为数不多的几个基因突变引起。本文... 详细信息

耳聋有着复杂的病因学特点,遗传和/或环境因素均可致聋。120多个耳聋相关基因的发现为我们了解听觉的病理生理机制提供了新的视点。然而,最近的研究表明在中国相当一部分综合征性和非综合征性耳聋仅由为数不多的几个基因突变引起。本文旨在综述综合征性、非综合征性及线粒体遗传性聋在中国人群感音神经性聋致病机制方面的最新进展。深入了解中国人群耳聋分子病因学特点,对获得准确的耳聋早期诊断和遗传咨询,以便及时干预和治疗至关重要。

关键词：耳聋基因人群遗传学中国人

Large eddy simulation study of 3D wind field in a complex mountainous area under different boundary conditions

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Journal of Zhejiang University-Science A(Applied Physics & Engineering) 2024年第7期25卷 541-556页

作者： yan LI Lei yan Xuhui HE School of Civil Engineering Central South UniversityChangsha410075China National Engineering Research Center for High-speed Railway Construction Changsha410075China Hunan Provincial Key Laboratory for Disaster Prevention and Mitigation of Rail Transit Engineering Structures Changsha410075China

Large eddy simulations generally are used to predict 3D wind field characteristics in complex mountainous *** simulation boundary conditions,such as the height and length of the computational domain or the characteristics of inflow turbulence,can significantly impact the quality of *** this study,we examined these boundary conditions within the context of the mountainous terrain around a long-span cable-stayed bridge using a wind tunnel *** sizes of computational domains and turbulent incoming wind velocities were used in large eddy *** results show that when the height of the computational domain is five times greater than the height of the terrain model,there is minimal influence from the top wall on the wind field characteristics in this complex mountainous *** the length of the wake region of the computational domain has negligible effects on the wind *** in the inlet boundary reduces the length of the wake region on a leeward hill with a low slope,but has less impact on the mean wind velocity of steep hills.

关键词： Large eddy simulation(LES) Spectral representation method Recycling method High mountainous canyon Wind characteristics Atmospheric boundary layer Computational domain

Electromagnetic characteristic analysis and design of a linear motor used for ultra-high-speed EMS maglev train

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Science China(Technological Sciences) 2024年第6期67卷 1957-1973页

作者： GAO Han SHI TingNa GAO XinMai LEI yanXiao yan Dong GUO Liyan yan yan College of Electrical Engineering Zhejiang UniversityHangzhou310027China Zhejiang University Advanced Electrical Equipment Innovation Center Hangzhou311107China State Key Laboratory of High-speed Maglev Transportation Technology Qingdao266100China CRRC Qingdao Sifang Co.Ltd. Qingdao266111China

The operating speed of the commercial electromagnetic suspension(EMS)maglev train has been over 430 km/h,making it the fastest means of land *** the increasing demands of people traveling,it is necessary to further improve the operating speed of maglev *** to examine whether the existing EMS system can meet the requirements of ultra-highspeed operation(more than 600 km/h),the electromagnetic characteristics of an EMS linear motor under the operating speed of 600–1000 km/h fed by a square-wave voltage supply is investigated in this ***,an electromagnetic field model of the EMS system under the square-wave voltage supply is established to investigate its electromagnetic performance,e.g.,the characteristics of phase current,the magnetic flux density,and the electromagnetic ***,the relationship between the harmonic components of the air-gap magnetic flux density and electromagnetic force is investigated using the two-dimensional fast Fourier transform(2D-FFT)to reveal the mechanism of electromagnetic force ***,to address the issues of excessive armature current density and significant electromagnetic force ripple,the linear motor is re-designed by enlarging the stator slot area and reshaping the mover's main magnetic ***,the Taguchi method is used to further improve the electromagnetic characteristics of the linear electric ***,the effectiveness of the proposed optimal design is validated by the finite-element analysis(FEA)based co-simulation.

关键词： ultra-high-speed maglev transportation electromagnetic suspension(EMS) linear motor electromagnetic force ripple suppression

Thermal and mechanical behavior of casting copper alloy wheel during wheel and belt continuous casting process

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China Foundry 2024年第1期21卷 82-90页

作者： Kun Gao yan Peng School of Mechanical Engineering Yanshan UniversityQinhuangdao 066004HebeiChina

To investigate the thermal and mechanical behavior of casting wheel,a two-dimensional thermoelastic-plastic finite element model was used to predict the temperature,stress and distortion distribution of the casting wheel during the wheel and belt continuous casting *** effects of grinding thickness and casting speed on the thermal and mechanical behaviors of the center of the hot face of the casting wheel were discussed in *** each rotation,the casting wheel passes through four different spray *** results show that the temperature distribution of the casting wheel in different spray zones is similar,the temperature of the hot face is the highest and the temperature reaches the peak in the spray zoneⅢ.The stress and distortion depend on the temperature distribution,and the maximum stress and distortion of the hot face are 358.2 MPa and 1.82 mm,*** temperature at the center of the hot face decreases with increasing grinding thickness and increases with increasing casting speed.

关键词： casting wheel finite element model grinding thickness casting speed hot face spray zones