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DNAH5基因新发移码变异所致1例原发性纤毛不动综合征患者的临床特征及遗传学分析

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中华男科学杂志 2024年第1期30卷 44-50页

作者：李孟阳黄珊马丽娜王岸聪山东第二医科大学临床医学院山东潍坊261053 临沂市中医医院呼吸内科山东临沂276003 临沂市人民医院生殖医学科山东临沂276000

目的:探讨1例原发性纤毛不动综合征(PCD)患者的临床特征和遗传学特点。方法:选取2020年7月于山东省临沂市人民医院生殖医学科门诊就诊的1例PCD患者为研究对象,收集患者的临床资料,应用全外显子组测序(WES)对患者进行基因检测,应用Sange... 详细信息

目的:探讨1例原发性纤毛不动综合征(PCD)患者的临床特征和遗传学特点。方法:选取2020年7月于山东省临沂市人民医院生殖医学科门诊就诊的1例PCD患者为研究对象,收集患者的临床资料,应用全外显子组测序(WES)对患者进行基因检测,应用Sanger测序对候选变异进行验证。采用SWISS-MODEL进行预测变异基因的蛋白结构。结果:先证者存在慢性鼻炎、支气管扩张、内脏转位及男性不育的临床表型。先证者行WES检测显示DNAH5基因第74外显子存在c.12890dup(p.N4297Kfs*13)纯合移码变异,导致多肽链合成提前终止,对基因功能造成影响。SWISS-MODEL预测示突变后蛋白缺失了一部分氨基酸残基,导致蛋白3D构象发生变化。该变异在ClinVar、gnomAD及OMIM数据库中均未见收录。参照美国医学遗传学与基因组学学会相关指南,判定此变异为致病性变异(PVS1+PM2_P+PM3_P)。结论:DNAH5基因c.12890dup(p.N4297Kfs*13)纯合移码变异可能是导致该患者临床表型的原因,上述发现丰富了DNAH5基因的变异谱。

关键词： DNAH5基因原发性纤毛运动障碍基因变异男性不育

围术期凝血指标变化预测骨质疏松性脊柱骨折术后再发骨折的临床研究

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罕少疾病杂志 2024年第3期31卷 99-101页

作者：李孟阳开封市人民医院骨科河南开封475000

目的探讨围术期凝血指标变化对骨质疏松性脊柱骨折术后再发骨折的预测价值。方法采用回顾性分析,收集2019年11月至2022年5月在开封市人民医院接受手术治疗且术后未发生再发骨折的36例骨质疏松性脊柱骨折患者的资料,纳入发生组;另收集同... 详细信息

目的探讨围术期凝血指标变化对骨质疏松性脊柱骨折术后再发骨折的预测价值。方法采用回顾性分析,收集2019年11月至2022年5月在开封市人民医院接受手术治疗且术后未发生再发骨折的36例骨质疏松性脊柱骨折患者的资料,纳入发生组;另收集同期在医院接受手术治疗术后发生再发骨折的36例骨质疏松性脊柱骨折患者的资料,纳入未发生组。由研究者设计基线资料调查表,详细统计患者一般资料,分析围术期凝血指标变化与骨质疏松性脊柱骨折术后再发骨折的关系,并基于受试者工作特征(ROC)曲线分析围术期凝血指标变化对骨质疏松性脊柱骨折术后再发骨折的预测价值。结果发生组骨密度T值低于未发生组(P0.05);术后7d,两组PT、APTT比较,差异无统计学意义(P>0.05);术后7d,发生组TT短于未发生组,FIB高于未发生组(P1,P0.7,具有一定的预测价值,且联合预测价值较高。结论术后7d时TT、FIB与骨质疏松性脊柱骨折术后再发骨折有关,二者可作为骨质疏松性脊柱骨折术后再发骨折的预测指标,且联合预测价值更高。

关键词：骨质疏松脊柱骨折凝血指标骨密度

4种血清型肺炎球菌免疫血清的制备及质控研究

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中国新药杂志 2024年第8期33卷 818-824页

作者：马庆华朱向国花春晖杨立蒙郑佳北京智飞绿竹生物制药有限公司北京100176

目的:自制6A型、6B型、19A型、19F型肺炎球菌免疫血清并检测其质量,为肺炎球菌疫苗多糖含量的测定提供优质检验试剂。方法:(1)制备6A型、6B型、19A型、19F型肺炎球菌免疫血清:用6A型、6B型、19A型、19F型肺炎球菌菌株制备免疫原,按照免... 详细信息

目的:自制6A型、6B型、19A型、19F型肺炎球菌免疫血清并检测其质量,为肺炎球菌疫苗多糖含量的测定提供优质检验试剂。方法:(1)制备6A型、6B型、19A型、19F型肺炎球菌免疫血清:用6A型、6B型、19A型、19F型肺炎球菌菌株制备免疫原,按照免疫程序接种日本大耳白兔,将符合规定的免疫血清分装保存。(2)检测6A型、6B型、19A型、19F型肺炎球菌免疫血清:采用速率散射比浊法和EliSA法进行检测。通过外标法确定肺炎球菌免疫血清工作浓度,利用交叉反应对免疫血清进行特异性分析,将初步筛查出有交叉反应的免疫血清进行吸收后利用血清交叉实验进行再次筛查;使用EliSA法对自制与丹麦国家血清研究所(Statens Serum Institut,SSI)生产的肺炎球菌免疫血清的抗体滴度进行检测并对比;最后筛查出与C多糖具有交叉反应的免疫血清并进行吸收。结果:初步筛查出6A型、6B型免疫血清有交叉反应,19A型、19F型免疫血清有交叉反应,经吸收后成功去除交叉反应且反应曲线范围(多糖含量为0.75~2.0μg·mL^(-1))线性良好(r>0.985),利用EliSA法测定自制与丹麦SSI生产的肺炎球菌免疫血清的抗体滴度进行对比后发现,自制肺炎球菌免疫血清拥有良好的抗体水平;19F型血清与C多糖具有交叉反应,而6A型、6B型、19A型血清与C多糖反应的响应值与空白对照比较无明显变化;在19F型血清中添加C多糖进行吸收时,平行制备一份添加等量稀释液的19F型血清,比较吸收前后的响应值,结果一致,证明19F型抗体有效成分不会因吸收作用降低,可以按照吸收前确定的工作稀释度继续使用。结论:吸收后的自制6A型、6B型、19A型和19F型肺炎球菌免疫血清无交叉反应,抗体水平良好,可用于肺炎球菌疫苗多糖含量测定。

关键词：肺炎球菌免疫血清制备速率散射比浊法 EliSA法多糖含量测定

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基于核心素养的高校英语教学的创新发展研究

湖北开放职业学院学报 2024年第11期37卷 6-8页

作者：李梦洋井媛陈耀庭杨坤河北工业大学外国语学院天津300401

英语是现阶段高校教学实践中说道普遍关注的学科之一,分析研究英语的教学目标和方向,并对英语教学的创新发展做分析与讨论,这对于推进英语教学改革,提升英语教学实效有突出的现实意义。目前,核心素养教育理念越来越深入人心,在核心素养... 详细信息

英语是现阶段高校教学实践中说道普遍关注的学科之一,分析研究英语的教学目标和方向,并对英语教学的创新发展做分析与讨论,这对于推进英语教学改革,提升英语教学实效有突出的现实意义。目前,核心素养教育理念越来越深入人心,在核心素养教育的具体要求下,高校的英语教学需要做积极的调整,包括教学方法的调整、教学模式的调整、教学目标的调整等。总的来讲,对核心素养背景下的高校英语教学发展目标进行明确,并在目标基础上强调英语教学的创新发展策略,这对于指导当前教育有突出现实价值。文章基于核心素养分析高校英语教学的创新发展,旨在为当前教育实践提供参考与帮助。

关键词：核心素养高校英语教学创新发展

Highly Sensitive and Selective Amperometric Sensor for Iodate Based on 9,10-Phenanthrenequinone Derived Graphene

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Chemical Research in Chinese Universities 2013年第1期29卷 132-138页

作者： WANG Hong-juan CHENG Na-na yang Xiao-yang li Xiao-meng ZHU lian-de Faculty of Chemistry Northeast Normal University Changchun 130024 P. R. China

We reported on a new amperometric sensor for the sensitive and selective determination of iodate in table salt. The iodate sensor was constructed by the integration of a novel nanocomposite which was made from 9,10-phenanthrenequinone（PQ） and graphene（GP） with a glassy carbon electrode（GCE）. The synthesized graphene and the nanocomposite were well characterized by X-ray diffraction（XRD）, transmission electron microscopy（TEM）, Fourier transform infrared（FTIR） spectroscopy and Raman spectroscopy. We fully studied the electrochemical beha- vior and kinetic characteristics of the PQ/GP nanocomposite at GCE. The PQ/GP electrode shows a good electrochemical catalytic activity towards the reduction of iodate, which makes itself a sensitive and selective electrochemical sensor for iodate. The iodate sensor displays a high sensitivity（1.04 ***.L-1）, a low detection limit（1.0X 10-8 mol/L）, a rapid response（less than 2 s）, and a broad linear range（from 5.0X 10-8 mol/L to 6.0X 10-3 mol/L ）. In addition, the sensor is interference free. The practical application of the proposed sensor was tested by the detection of iodate in table salt.

关键词： 9,10-Phenanthrenequinone Graphene Amperometric sensor Iodate

ANALYTICAL AND NUMERICAL SOLUTIONS FOR THE FLOW IN MICROTUBE WITH THREE-DIMENSIONAL CORRUGATED SURFACE,PART 1:STEADY FLOW

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Journal of Hydrodynamics 2010年第5期22卷 647-656页

作者： WANG Hao-li yang meng WANG Yuan College of Metrological Technology and Engineering China Jiliang University Hangzhou 310018China Department of Fluid Engineering School of Energy and Power Engineering Xi＇an Jiaotong University Xi＇an710049 China

The influences of three-dimensional corrugated wall on the fully-developed steady no-slip flows in microtube are studied by analytical and numerical methods in this article. Detailed analytical solutions for the space-averaged equations and the numerical method for the solutions of the disturbance equations are given. An iterative arithm of coupled equations with respect to space-averaged velocities and disturbance velocities is suggested. The study shows that a three-dimensional subsidiary stress layer exists in the near-wall region. The relative roughness, wavenumber and Reynolds number are three important parameters influencing the subsidiary stresses and the space-averaged pressure drop. The space-averaged pressure drop subject to an invariable flow rate mainly depends on the position of datum surface. When the datum surface is taken at the balance position of wall function, the value of pressure drop is determined by the dynamic characteristics of the flow.

关键词： microtube three-dimensional corrugated surface space-averaged method subsidiary stress

A digital twins enabled underwater intelligent internet vehicle path planning system via reinforcement learning and edge computing

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Digital Communications and Networks 2024年第2期10卷 282-291页

作者： Jiachen yang meng Xi Jiabao Wen yang li Houbing Herbert Song School of Electrical and Information Engineering Tianjin UniversityTianjin300072China Security and Optimization for Networked Globe Laboratory(SONG Lab) Embry-Riddle Aeronautical UniversityDaytona BeachFL32114USA

The Autonomous Underwater Glider(AUG)is a kind of prevailing underwater intelligent internet vehicle and occupies a dominant position in industrial applications,in which path planning is an essential *** to the complexity and variability of the ocean,accurate environment modeling and flexible path planning algorithms are pivotal *** traditional models mainly utilize mathematical functions,which are not complete and *** existing path planning algorithms depend on the environment and lack *** overcome these challenges,we propose a path planning system for underwater intelligent internet *** applies digital twins and sensor data to map the real ocean environment to a virtual digital space,which provides a comprehensive and reliable environment for path *** design a value-based reinforcement learning path planning algorithm and explore the optimal network structure *** path simulation is controlled by a closed-loop model integrated into the terminal vehicle through edge *** integration of state input enriches the learning of neural networks and helps to improve generalization and *** task-related reward function promotes the rapid convergence of the *** experimental results prove that our reinforcement learning based path planning algorithm has great flexibility and can effectively adapt to a variety of different ocean conditions.

关键词： Digital twins Reinforcement learning Edge computing Underwater intelligent internet vehicle Path planning

Key processes of carbon cycle and sink enhancement paths in natural wetland ecosystems in China

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Science China Earth Sciences 2024年第8期67卷 2444-2459页

作者： Jinshuai li Tianxiang HAO meng yang Guirui YU Key Laboratory of Ecosystem Network Observation and Modeling Institute of Geographic Sciences and Natural Resources ResearchChinese Academy of SciencesBeijing 100101China College of Resources and Environment University of Chinese Academy of SciencesBeijing 100049China

Wetland ecosystems have become one of the long-term solutions for mitigating global climate change due to their strong carbon sequestration ***,the key carbon cycle processes in wetland ecosystems still lack a systematic *** the context of wetland protection and restoration,there is still a lack of consensus on the technical pathways to realize carbon sink multiplication in wetland *** this paper,the key processes of carbon cycle,such as photosynthetic carbon uptake,microbial carbon decomposition and carbon deposition and burial,are sorted out and summarized in four major wetland types,namely,swamp and peat wetlands,river and riparian wetlands,lake and lakeshore wetlands,and estuarine and coastal *** on the key processes of carbon cycle,three technological pathways for carbon sink multiplication are proposed,including,vegetation carbon sequestration and sink enhancement technology,soil carbon emission reduction technology and carbon deposition and burial *** key technologies under each pathway are further *** the carbon sink effects of the carbon sink technologies in different wetland types are qualitatively ***,wetland protection and restoration methods in corresponding regions are given in the light of the regional characteristics of wetlands in *** will provide a scientific basis for the strategy of doubling the carbon sinks of China′s wetland ecosystems.

关键词： Wetlands Carbon cycle Carbon sinks Technology pathways Conservation and restoration

Effect of Sc on Al_(3)Fe phase and mechanical properties of as-cast AA5052 aluminum alloy

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China Foundry 2024年第3期21卷 257-264页

作者： yang li Qing Yu Feng-feng Chen Jia-wen He Hong-mei yang meng-nie li Faculty of Materials Science and Engineering Kunming University of Science and TechnologyKunming 650093China

The AA5052 aluminum alloy is widely used in automobile and aerospace manufacturing,and with the development of light-weight alloys,it is required that these materials exhibit better mechanical *** studies have demonstrated that the addition of Sc to aluminum alloys can improve both the microstructure and properties of the *** this study,the effect of Sc on the Fe-rich phase and properties of the AA5052 aluminum alloy was studied by adding 0%,0.05%,0.2%,and 0.3%*** results show that with the increase of Sc,the coarse needle-like Fe-rich phase gradually transforms into Chinese-script and then nearly spherical particles,reduce the size of Fe-rich phase,and refine the grain with increase of high angle grain boundaries(HAGBs).These microstructure changes enhance the strength of the AA5052 alloy through Sc *** ductility of the alloy is obviously improved because the addition of a lower amount of Sc changes the morphology of Fe-rich phase from needle-like into a Chinese-script,and it is subsequently reduced as a result of significant increase in HAGBs with increasing Sc content.

关键词： AA5052 aluminum alloy Al3Fe phase mechanical properties grain boundary