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全外测序联合拷贝数变异检测在遗传性耳聋的应用

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中华耳科学杂志 2024年第1期22卷 83-87页

作者：张远辉林颖陈艺文刘小萍于锋广州市红十字会医院广州市应急医院暨南大学附属广州市红十字会医院广州市红十字会医院互联网医院广州510220 暨南大学耳鼻喉头颈外科研究所

目的探讨全外显子测序(WES)联合拷贝数变异(CNV)检测在遗传性耳聋中的临床应用价值,并加深对CNV的认识。方法选取广州市红十字会医院耳鼻咽喉头颈外科就诊的双耳中度感音神经性聋患儿,无家族遗传史、用药史,完善内镜、影像学、主观和客... 详细信息

目的探讨全外显子测序(WES)联合拷贝数变异(CNV)检测在遗传性耳聋中的临床应用价值,并加深对CNV的认识。方法选取广州市红十字会医院耳鼻咽喉头颈外科就诊的双耳中度感音神经性聋患儿,无家族遗传史、用药史,完善内镜、影像学、主观和客观听力学等检查,采集外周血样本,行WES寻找致聋原因并验证。结果患儿无家族遗传史、耳毒性药物用药史等,听性脑干反应阈值、ASSR及纯音听阈测听提示双侧中度感音神经性聋。在该患儿全外显子组发现12个纯合变异,分别定位于1(CR1基因,剪接变异)、5(ZSWIM6基因、SMN1基因,同义突变)、6(ATXN1基因,框内缺失突变;TENT5A基因,框内插入突变)、7(CFTR基因,内含子)、8(TG,启动子)、9(PRDM12基因,框内缺失突变)、10(TUBGCP2基因,剪接变异)、11(TENM4基因,剪接变异)、15(STRC基因,缺失)、16(ABCC11基因,错义变异)号染色体。根据美国医学遗传学与基因组学学会指南、综合病史分析,只有STRC基因NM_153700.2:EX1-EX29E Del变异为致病变异,其余变异为良性或可能良性。多重链接探针扩增技术对靶序列进行验证,结果证实。结论本例患儿为DFNB16(OMIM:603720)的STRC基因变异导致双耳中度感音神经性聋。临床诊疗中,可根据病史,选择不同深度、广度的检测技术;加强耳科医师对CNV引起遗传性耳聋的认识。

关键词：全外显子测序拷贝数变异感音神经性耳聋多重链接探针扩增技术

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国际贸易对环境脆弱性的影响

Science Bulletin 2024年第4期69卷 426-430页

作者：王少剑梁筠怡陈湘杰方创琳刘康遥王婕妤冯奎双刘竹 Klaus Hubacek 刘小平 School of Geography and Planning Sun Yat-sen UniversityGuangzhou 510006China Department of Geographical Sciences University of MarylandCollege Park MD 20742USA Institute of Geographic Sciences and Natural Resources Research Chinese Academy of SciencesBeijing 100101China Department of Earth System Science Tsinghua UniversityBeijing 100084China Integrated Research on Energy Environment and Society(IREES)Energy and Sustainability Research Institute Groningen(ESRIG)University of GroningenGroningenAG 9747the Netherlands

Owing to the harsh natural environment and unsustainable production system,environmental vulnerability differs substantially among and within regions^([1]).Over the past 20 years,the most environmentally vulnerable countries lost over half of their economic growth potential^([2]).International trade is a double-edged sword for environmental *** the one hand,production occurs beyond countries’borders while associated environmental impacts are displaced away from the location of consumption.

关键词：环境脆弱性国际贸易 border

Morphology and orientation relationship of VC precipitates in HSLA steel

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Journal of University of Science and Technology Beijing 2006年第5期13卷 420-423页

作者： Shijian Yan xiaoping liu Wenhuai Tian Department of Materials Physics and Chemistry University of Science and Technology Beijing Beijing 100083 China

The morphology and distribution of VC precipitates in HSLA steel as well as the orientation relationship between VC precipitate and α-Fe were studied by transmission electron microscopy （TEM）. The chemical composition of the VC precipitate was analyzed qualitatively by using analytical electron microscopy （AEM） equipped with an energy dispersive spectrum （EDS） system. The VC precipitate is needle-like in shape with a size of about 10 nm in length and is homogeneously dispersed in the α-Fe matrix. The smaller lattice misfit along the 〈100〉 lattice direction of α-Fe matrix leads to VC precipitate forming with its long axes nearly parallel to the 〈100〉 lattice direction of α-Fe matrix. It is confirmed that the orientation relationship between VC precipitate and α- Fe is the ＂N-W＂ orientation relation by selected area electron diffraction （SAED） patterns.

关键词： vanadium micro-alloyed steels VC precipitation orientation relationship

Almost Disturbance Decoupling for HOFA Nonlinear Systems with Strict-Feedback Form

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Journal of Systems Science & Complexity 2022年第2期35卷 481-501页

作者： WANG Na liu xiaoping liu Cungen WANG Huanqing ZHOU Yucheng School of Information and Electrical Engineering Shandong Jianzhu UniversityJinan 250101China Faculty of Engineering Lakehead UniversityThunder BayON P7B 5E1Canada The Department of Mathematics Bohai UniversityJinzhou 121013China

The article is devoted to the almost disturbance decoupling problem for high-order fully actuated(HOFA)nonlinear systems with strict-feedback *** the full-actuation feature of high-order fully actuated systems and Lyapunov stability theory,a state feedback control law and virtual control laws are *** unknown disturbances are handled by almost disturbance decoupling(ADD)***,the effectiveness of the control strategy is verified by stability analysis and simulation.

关键词： Almost disturbance decoupling high-order fully actuated systems strict-feedback systems

A Mixed-Depth Visual Rendering Method for Bleeding Simulation

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IEEE/CAA Journal of Automatica Sinica 2019年第4期6卷 917-925页

作者： Wen Shi Peter xiaoping liu Minhua Zheng the School of Mechanical Electronic and Control EngineeringBeijing Jiaotong UniversityBeijing 100044China IEEE the Department of Systems and Computer Engineering Carleton UniversityOttawaON K1S 5B6Canada

The visual fidelity of bleeding simulation in a surgical simulator is critical since it will affect not only the degree of visual realism,but also the user’s medical judgment and treatment in real-life *** conventional marching cubes surface rendering algorithm provides excellent visual effect in rendering gushing blood,however,it is insufficient for blood flow,which is very common in surgical procedures,since in this case the rendered surface and depth textures of blood are *** this paper,we propose a new method called the mixed depth rendering for rendering blood flow in surgical simulation.A smooth height field is created to minimize the height difference between neighboring particles on the bleeding *** color and transparency of each bleeding area are determined by the number of bleeding particles,which is consistent with the real visual *** addition,there is no much extra computational *** rendering of blood flow in a variety of surgical scenarios shows that visual feedback is much *** proposed mixed depth rendering method is also used in a neurosurgery simulator that we developed.

关键词： Bleeding simulation bleeding suction rendering algorithm marching cubes mixed depth rendering

Dynamic response to climate change in the radial growth of Picea schrenkiana in western Tien Shan,China

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Journal of Forestry Research 2022年第1期33卷 147-157页

作者： Liang Jiao Shengjie Wang Ke Chen xiaoping liu College of Geography and Environment Science Northwest Normal UniversityLanzhou 730070People’s Republic of China Faculty of Geographical Science Beijing Normal UniversityBeijing 100875People’s Republic of China

Forests are important ecosystems for economic and social ***,the response of tree radial growth to climate has produced‘divergent problems'at high latitudes under global *** this study,the response stability and trend of Picea schrenkiana radial growth to variability in climate factors were analyzed in the mid-latitudes of the western Tien Shan *** growth of *** was mainly limited by minimum and mean *** divergent responses of radial growth occurred in response to the minimum and mean temperatures at the beginning of the growing season(April–May)of the current year,but responses to drought occurred in July–September of the previous *** the mean and minimum temperatures in June–September of the current year were both *** growth first increased and then decreased according to the basal area increment,with a gradual increase in ***,forest ecosystems in mountainous arid areas will be increasingly affected by future climate warming.

关键词： Dendroecology Divergent response Climate change Forest degradation Western Tien Shan mountains

A Quadratic Finite Volume Method for Parabolic Problems

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Advances in Applied Mathematics and Mechanics 2023年第6期15卷 1407-1427页

作者： Yuanyuan Zhang xiaoping liu School of Mathematics and Information Sciences Yantai UniversityYantaiShandong 264005China

.In this paper,a quadratic finite volume method(FVM)for parabolic problems is *** first discretize the spatial variables using a quadratic FVM to obtain a semi-discrete *** then employ the backward Euler method and the Crank-Nicolson method respectively to further disctetize the time vatiable so as to derive two full-discrete *** existence and uniqueness of the semi-discrete and full-discrete FVM solutions are established and their optimal error estimates are ***,we give numerical examples to illustrate the theoretical results.

关键词： Higher-orderﬁnite volume method parabolic problems error estimate

茵栀黄颗粒联合复方甘草酸二铵治疗黄疸型肝炎疗效及肝功指标、TBIL、ALT的变化

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辽宁中医杂志 2024年第9期51卷 88-90页

作者：刘小平胡建伍丽芳董金华安庆市立医院怀宁院区安徽安庆246121

目的分析茵栀黄颗粒联合复方甘草酸二铵治疗黄疸型肝炎的效果。方法选取安庆市立医院怀宁院区2020年1月—2022年12月诊治的黄疸型肝炎患者98例,随机分成对照组与试验组。对照组使用复方甘草酸二铵治疗,试验组联合使用茵栀黄颗粒治疗,对... 详细信息

目的分析茵栀黄颗粒联合复方甘草酸二铵治疗黄疸型肝炎的效果。方法选取安庆市立医院怀宁院区2020年1月—2022年12月诊治的黄疸型肝炎患者98例,随机分成对照组与试验组。对照组使用复方甘草酸二铵治疗,试验组联合使用茵栀黄颗粒治疗,对比两组治疗前后的炎症因子水平、肝功能指标、生活质量。结果(1)治疗后两组白细胞介素(interleukin-6,IL-6)、C反应蛋白(C-reactive protein,CRP)和肿瘤坏死因子-α(tumor necrosis factor-α,TNF-α)水平明显降低,其中试验组患者各测定值低于对照组,差异有统计学意义(P<0.05)。(2)治疗后两组谷丙转氨酶(alanine aminotransferase,ALT)、谷草转氨酶(aspartate aminotransferase,AST)和总胆红素(total bilirubin,TBIL)指标明显减小,试验组患者各指标小于对照组(P<0.05)。(3)治疗后和随访3个月两组患者的健康调查简表(the MOS 36 item short form health survey,SF-36)评分持续增高,试验组评分结果高于对照组(P<0.05)。结论茵栀黄颗粒联合复方甘草酸二铵治疗黄疸型肝炎疗效确切,能显著降低炎症因子水平,改善肝功能和生活质量,值得推广。

关键词：黄疸型肝炎茵栀黄颗粒肝功能炎症因子生活质量

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Simulation of urban expansion based on cellular automata and maximum entropy model

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Science China Earth Sciences 2020年第5期63卷 701-712页

作者： Yihan ZHANG xiaoping liu Guangliang CHEN Guohua HU School of Geography and Tourism Guangdong University of Finance and EconomicsGuangzhou 510230China Guangdong Key Laboratory for Urbanization and Geo-simulation School of Geography and PlanningSun Yat-sen UniversityGuangzhou 510275China School of Geographic Sciences East China Normal UniversityShanghai 200241China

Urban expansion is a hot topic in land use/land cover change(LUCC)*** this paper,maximum entropy model and cellular automata(CA)model are coupled into a new CA model(Maxent-CA)for urban *** model can help to obtain transition rules from single-period ***,it can be constructed and calibrated easily with several ***,Maxent-CA model was built by using remote sensing data of China in 2000(basic data)and spatial variables(such as population density and Euclidean distance to cities).Secondly,the proposed model was calibrated by analyzing training samples,neighborhood structure and spatial ***,this model was verified by comparing logistic regression CA model and their simulation *** showed that suitable sampling ratio(sampling ratio equals the proportion of urban land in the whole region)and von Neumann neighborhood structure will help to yield better *** structure of simulation results becomes simple as spatial resolution ***,simulation accuracy is significantly affected by spatial *** to simulation results of logistic regression CA model,Maxent-CA model can avoid clusters phenomenon and obtain better results matching actual *** is found that the proposed model performs well in simulating urban expansion of *** will be helpful for simulating even larger study area in the background of global environment changes.

关键词： Land use/land cover change(LUCC) Cellular automata(CA) Urban expansion Maximum entropy model