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NON-SYNDROMIC HEARING LOSS AND HIGH- THROUGHPUT STRATEGIES TO DECIPHER ITS GENETIC HETEROGENEITY

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Journal of Otology 2013年第1期8卷 6-24页

作者： Liu Xue Zhong Shan Kun Qing jing cheng jing YanDenise Department of Otolaryngology University of Miami The Fifth Affiliated Hospital Xinjiang Medical University Medical Systems Biology Research Center School of MedicineTsinghua University

Hearing loss (HL) is the most common sensory disorder, affecting all age groups, ethnicities, and gen-ders. According to World Health Organization (WHO) estimates in 2005, 278 million people worldwide have moderate to profound HL in both ears. Results of the 2002 National Health Interview Survey indicate that nearly 31 million of all non-institutionalized adults (aged 18 and over) in the United States have trouble hearing. Epidemiological studies have estimated that approximately 50%of profound HL can be attributed to genetic causes. With over 60 genes implicated in nonsyndromic hearing loss, it is also an extremely het-erogeneous trait. Recent progress in identifying genes responsible for hearing loss enables otolaryngologists and other clinicians to apply molecular diagnosis by genetic testing. The advent of the $1000 genome has the potential to revolutionize the identification of genes and their mutations underlying genetic disorders. This is especially true for extremely heterogeneous Mendelian conditions such as deafness, where the muta-tion, and indeed the gene, may be private. The recent technological advances in target-enrichment methods and next generation sequencing offer a unique opportunity to break through the barriers of limitations im-posed by gene arrays. These approaches now allow for the complete analysis of all known deafness-causing genes and will result in a new wave of discoveries of the remaining genes for Mendelian disorders. This re-view focuses on describing genotype-phenotype correlations of the most frequent genes including GJB2, which is responsible for more than half of cases, followed by other common genes and on discussing the im-pact of genomic advances for comprehensive genetic testing and gene discovery in hereditary hearing loss.

关键词： GJB THROUGHPUT STRATEGIES TO DECIPHER ITS GENETIC HETEROGENEITY NON-SYNDROMIC HEARING LOSS AND HIGH gene

Modelling low carbon transition and economic impacts under SSPs and RCPs based on GTIMES

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Advances in Climate Change Research 2021年第6期12卷 858-870页

作者： YANG Lei SHI jing-cheng CHEN Wen-Ying James GLYNN Brian O GALLACHOIR Institute of Energy Environment and EconomyTsinghua UniversityBeijing100084China MaREI Centre for Energy Climate and MarineEnvironmental Research InstituteUniversity College CorkCorkT12 K8AFIreland School of Engineering University College CorkCorkT12 K8AFIreland

The simulation of global and regional energy system transition and its potential mitigation cost could intuitively reflect the need for earlier climate mitigation actions. To explore the possible transitions of global and regional energy system, this study applied a 14-region energy system model (GTIMES) with scenarios designed using Shared Socio-economic Pathways (SSPs) with Representative Concentration Pathways (RCPs), and detailed depicts the quantification of SSPs trajectories into GTIMES model. Modeling results show that: 1) Global energy-related CO_(2) emissions will reach 37–74 Gt by 2050 under reference scenarios, while they will decrease to 12–14 Gt under higher possibility pathways to reach 2 ℃ target, with ratios of non-fossil fuel round to 42%–46%. 2) Electrification level has to increase noticeably in regional transition with a global average level of about 44% to achieve significant emission reduction. 3) Higher level of mitigation cost would happen with the constraint mitigation target, as well as social and economic trajectories chosen. Therefore, following trajectories of sustainable development is necessary.

关键词： GTIMES model Shared social-economic pathways CO_(2)emission Energy consumption

UAV data link anti-interference via SLHS-SVM-AdaBoost algorithm:Classification prediction and route planning

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Journal of Electronic Science and Technology 2024年第4期22卷 37-52页

作者： Shuo Zeng Xiao-Jia Xiang Yong-Peng Dou jing-cheng Du Guang He College of Intelligence Science and Technology National University of Defense TechnologyChangsha410073China Representative Office of Xi’an Military Agency Xi’an710000China

The ability to predict the anti-interference communications performance of unmanned aerial vehicle(UAV)data links is critical for intelligent route planning of UAVs in real combat *** research in this area has encountered several limitations:Classifiers exhibit low training efficiency,their precision is notably reduced when dealing with imbalanced samples,and they cannot be applied to the condition where the UAV’s flight altitude and the antenna bearing *** paper proposes the sequential Latin hypercube sampling(SLHS)-support vector machine(SVM)-AdaBoost algorithm,which enhances the training efficiency of the base classifier and circumvents local optima during the search process through SLHS ***,it mitigates the bottleneck of sample imbalance by adjusting the sample weight distribution using the AdaBoost *** comparison,the modeling efficiency,prediction accuracy on the test set,and macro-averaged values of precision,recall,and F1-score for SLHS-SVM-AdaBoost are improved by 22.7%,5.7%,36.0%,25.0%,and 34.2%,respectively,compared with ***,these values are improved by 22.2%,2.1%,11.3%,2.8%,and 7.4%,respectively,compared with particle swarm optimization(PSO)-*** Latin hypercube sampling with the SLHS-SVM-AdaBoost algorithm,the classification prediction model of anti-interference performance of UAV data links,which took factors like three-dimensional position of UAV and antenna bearing into consideration,is established and used to assess the safety of the classical flying path and optimize the flying *** was found that the risk of loss of communications could not be completely avoided by adjusting the flying altitude based on the classical path,whereas intelligent path planning based on the classification prediction model of anti-interference performance can realize complete avoidance of being interfered meanwhile reducing the route length by at least 2.3%,thus benefiting bot

关键词： Anti-interference performance Classification prediction Data link Route planning Sequential Latin hypercube sampling(SLHS) Unmanned aerial vehicle(UAV)

Minimum structure of high-harmonic spectra from aligned O_(2) and N_(2) molecules

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Chinese Physics B 2021年第11期30卷 64-68页

作者： Bo Yan Yi-Chen Wang Qing-Hua Gao Fang-jing cheng Qiu-Shuang jing Hong-jing Liang Ri Ma Institute of Atomic and Molecular Physics Jilin UniversityChangchun 130012China College of Science Jilin Institute of Chemical TechnologyJilin 132022China

We experimentally investigated the high-order harmonic generation(HHG)from aligned O_(2) and N_(2) molecules in a linearly polarized laser field,and presented the dependence of the harmonic spectrum on the driving laser intensity and molecular alignment *** minimum position of HHG of O_(2) varies with changing the laser intensity,which is caused by multi-orbital ***,the location of the observed minimum structure in N_(2) harmonic spectrum remained unchanged upon changing the laser *** mechanism of the spectral minimum for N_(2) case is regarded as a Cooperlike minimum in HHG associated with the molecular electronic *** work indicates that harmonic spectroscopy can effectively uncover information about molecular structure and electron dynamics.

关键词： high-order harmonic generation aligned molecule multi-orbital interference of molecules Cooper-like minimum

Numerical simulation of radiated noise during combustion of energetic materials in a closed bomb

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Defence Technology（防务技术） 2022年第7期18卷 1167-1178页

作者： Shi-hui Xiong Tuo Yang Yu-jun Wu jing-cheng Wang Yuan Li Yu-quan Wen State Key Laboratory of Explosion Science and Technology Beijing Institute of TechnologyBeijing100081China Xi'an Qinghua Cooperation North Special Energy Group Co.Ltd.Xi'an710025China Institute of Extreme Mechanics and School of Aeronautics Northwestern Polytechnical UniversityXi'an710072China

In this study,based on a closed bomb test combined with computational fluid dynamics,a structural finite element method,and an acoustic boundary element method,a fluid-solid acoustic one-way coupling calculation model is established for the combustion process of energetic materials in a closed bomb,and the effectiveness of the model is verified by *** is found that the maximum peak sound pressure increases exponentially with an increase in loading doses or gas ***,a change in the combustion coefficient of the energetic materials has little effect on the noise generated during the combustion process in the closed *** the combustion coefficient is reduced by a multiple of 16,the maximum transient sound pressure is reduced by 1.79 dB,and the sound pressure level in the frequency band is reduced by 1.75 *** an increase in shell thickness,the combustion noise of the energetic materials in the closed bomb decreases,and the reduction range of the combustion noise increases with the increase in shell thickness.

关键词： Pyrotechnics Noise Energetic materials Fluid-structure interaction Acoustic boundary element

Orthogonality of Generalized (θ,φ)-Derivations on Ideals

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Journal of Mathematical Research and Exposition 2011年第2期31卷 315-322页

作者： cheng cheng SUN jing MA Li Zhi LANG Department of Mathematics Jilin University Jilin 130012 P. R. China

In this paper,necessary and sufficient conditions concerning the orthogonality and the composition of a couple of generalized （θ,φ）-derivations on a nonzero ideal of a semiprime ring are *** results are generalizations of several results of Breˇsar and Vukman,which are related to a theorem of Posner on the product of two derivations on a prime ring.

关键词： orthogonal generalized (θ φ)-derivation semiprime ring

轻木人工林生长及各器官碳、氮、磷化学计量对氮添加的响应

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植物营养与肥料学报 2025年第1期31卷 188-200页

作者：文程敬吴俊文赵志娟陈刚李志琪段贵河杜官本梁文西南林业大学林学院云南昆明650224 西南林业大学材料与化工学院云南昆明650224 景洪市景洪农场有限责任公司云南西双版纳666303

【目的】研究轻木(Ochroma lagopus)人工林生长及各器官碳(C)、氮(N)、磷(P)化学计量特征对氮添加的响应,为轻木人工林的栽培提供理论依据。【方法】以两年生轻木为材料,在云南省勐腊县勐醒农场轻木人工林地进行田间试验,采用随机区组设... 详细信息

【目的】研究轻木(Ochroma lagopus)人工林生长及各器官碳(C)、氮(N)、磷(P)化学计量特征对氮添加的响应,为轻木人工林的栽培提供理论依据。【方法】以两年生轻木为材料,在云南省勐腊县勐醒农场轻木人工林地进行田间试验,采用随机区组设计,设置不施氮对照(CK)和施尿素、缓释肥300 g/株(N1、H1)、450g/株(N2、H2)、600 g/株(N3、H3) 7个处理,施肥时间为2023年6月,2023年10月取样,测定轻木树高、胸径,分析叶、枝、根中的C、N、P含量,并计算各器官化学计量特征值。【结果】与CK相比,低施氮量(N1、H1)处理的轻木胸径增加不显著,N1处理的树高增加也不显著,中、高施氮量处理(N2、N3、H2、H3)的胸径、树高均显著高于CK,但这4个处理间差异不显著。施氮对轻木枝和根中C含量无显著影响,但N3和H3降低了叶片中C含量;施氮显著提高枝、叶和根中N含量,且增幅随施氮量的增加而显著提高。施氮显著降低了叶片中P含量,降幅随施氮量的增加而显著升高,但H1处理的叶片P含量显著低于N1,而H2与N2,以及H3与N3处理之间无显著差异;N3、H3处理降低了树枝中P含量;施氮增加了根中P含量,且增幅随施氮量的增加而提高,N3处理的根中P含量显著高于N1处理,而3个硫包衣缓释肥处理间的根中P含量无显著差异。CK处理叶片N:P16,轻木生长由受N元素限制转变为受P元素限制,且H2、H3处理的叶片N:P显著高于N2、N3处理,即施用硫包衣缓释肥带来的磷限制大于尿素。相关性分析表明,轻木生长与各器官的养分含量及化学计量特征显著相关,且轻木生长受各器官的氮含量影响显著。表型可塑性与主成分分析结果显示,氮添加下轻木生长、各器官C、N、P含量及化学计量比特征的表型可塑性指数为0.05~0.52,主成分1和主成分2的累计方差贡献率为63.2%;轻木在氮添加处理下,主要通过调节各器官的N、P含量来适应外界变化,进而促进轻木的生长。【结论】氮添加对轻木人工林生长及各器官C、N、P化学计量特征有显著的影响,施用中、高量氮肥对提高轻木生长的效果优于低量氮肥,而且缓解了氮元素对轻木生长的限制,但影响了C、N、P在各器官中的分布,还引起了磷元素的限制,施用硫包衣缓释肥引起的磷元素限制更加严重。因此,在轻木人工林生产管理中,应注意氮肥的施用量,在施用硫包衣缓释肥时,尤其要注意补充磷肥。

关键词：轻木人工林氮添加化学计量特征相关性表型可塑性主要成分

Catalytic[2+2+2]Tandem Cyclization with Alkyl Substituted Methylene Malonate Enabling Concise Total Synthesis of Four Malagasy Alkaloids

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CCS Chemistry 2023年第1期5卷 124-132页

作者： Yu-jing cheng Liu-Peng Zhao Lijia Wang Yong Tang State Key Laboratory of Organometallic Chemistry Shanghai Institute of Organic ChemistryChinese Academy of SciencesUniversity of Chinese Academy of SciencesShanghai 200032 Shanghai Engineering Research Center of Molecular Therapeutics and New Drug Development Shanghai Frontiers Science Center of Molecule Intelligent SynthesesSchool of Chemistry and Molecular EngineeringEast China Normal UniversityShanghai 200062

Myrtoidine and malagashanine,highly complex indole alkaloids,are effective adjuvants in developing cures for plasmodium malaria and potent multi-drug resistant *** nearly 30 years of progress,myrtoidine and the related family of Malagasy alkaloids still present formidable challenges for synthetic ***,we developed a diastereoselective[2+2+2]tandem cyclization reaction with alkyl-substituted methylene malonate,enabling highly efficient collective total synthesis of four Malagasy alkaloids from commercially available tryptamines within 10-13 *** synthetic strategy included rapid and highly stereoselective assembly of the tetracyclic indoline core containing 5-7 contiguous stereogenic carbon centers,rarely seen in indole *** the four natural products,(±)-myrtoidine,(±)-11-demethoxymyrtoidine,and(±)-12-hydroxymalagashanine were synthesized for the first time,and the work on(±)-malagashanine represented the shortest synthetic route so *** current study should enable further explorations of chemical and biological spaces based on myrtoidine,malagashanine,and related natural products.

关键词： tandem cyclization [2+2+2] methylene malonate indole alkaloids myrtoidine malagashanine

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创伤救治护理培训的改革与实践成效

中华护理教育 2025年第1期22卷 85-90页

作者：武作家王钰炜程晶张敏孙丽冰闫丹萍丁幼芽王飒浙江大学医学院附属第二医院护理部杭州市310009 华中科技大学同济医学院附属同济医院武汉市430030 中国人民解放军陆军特色医学中心重庆市400042 北京大学人民医院北京市100044

目的探讨创伤救治护理培训的改革方法、课程优化和实践效果。方法对中国创伤救治护理培训项目1.0学员的课程反馈与效果追踪进行分析,专家小组根据前期培训效果、学员反馈内容等设计2.0项目改革方案。进行了依托线上平台前置基础理论内... 详细信息

目的探讨创伤救治护理培训的改革方法、课程优化和实践效果。方法对中国创伤救治护理培训项目1.0学员的课程反馈与效果追踪进行分析,专家小组根据前期培训效果、学员反馈内容等设计2.0项目改革方案。进行了依托线上平台前置基础理论内容、借助案例内化知识、升级团队工作坊、完善考核内容等培训改革,对2023年7月至12月1499名学员进行培训,通过学员考核和满意度调查对改革成效进行评价。结果1452名学员完成考核,培训后学员的理论考核成绩为(84.40±11.76)分,较培训前(69.63±15.77)有所提升(t=4.152,P<0.001);创伤全流程救治配合考核得分(83.10±9.49)分;学员对培训的满意度评分均在4分以上。结论创伤救治护理培训通过多维度优化,有效提升学员理论知识、实践能力和团队合作能力,得到学员认可。

关键词：创伤护理中国创伤救治培训护士培训核心能力护理管理