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Identification of a novel splice site mutation in the DNAAF4 gene of a Chinese patient with primary ciliary dyskinesia

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Asian Journal of Andrology 2023年第6期25卷 713-718页

作者： Yang Xu jing Wang ji-hai liu Qing-Qiang Gao Bing Wang Zhi-Peng Xu Department of Andrology Nanjing Drum Tower HospitalThe Affiliated Hospital of Nanjing University Medical SchoolNanjing 210008China

Primary ciliary dyskinesia(PCD)is a rare hereditary orphan condition that results in variable phenotypes,including *** 50 gene variants are reported in the scientific literature to cause PCD,and among them,dynein axonemal assembly factor 4(DNAAF4)has been recently ***4 has been implicated in the preassembly of a multiunit dynein protein essential for the normal function of locomotory cilia as well as *** the current study,a single patient belonging to a Chinese family was recruited,having been diagnosed with PCD and *** affected individual was a 32-year-old male from a nonconsanguineous *** also had abnormal spine structure and spinal cord bends at angles diagnosed with *** reports,laboratory results,and imaging data were ***-exome sequencing,Sanger sequencing,immunofluorescence analysis,hematoxylin-eosin staining,and in silico functional analysis,including protein modeling and docking studies,were *** results identified DNAAF4 disease-related variants and confirmed their *** analysis through whole-exome sequencing identified two pathogenic biallelic variants in the affected *** identified variants were a hemizygous splice site c.784-1G>A and heterozygous 20.1 Kb deletion at the DNAAF4 locus,resulting in a truncated and functionless DNAAF4 *** analysis indicated that the inner dynein arm was not present in the sperm flagellum,and sperm morphological analysis revealed small sperm with twisted and curved flagella or lacking *** current study found novel biallelic variants causing PCD and asthenoteratozoospermia,extending the range of DNAAF4 pathogenic variants in PCD and associated with the etiology of *** findings will improve our understanding of the etiology of PCD.

关键词： DNAAF primary ciliary dyskinesia scoliosis splice site

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Reaction of Substituted Cyclopentadienyl-magnesium-Chloride with Carbonyl Compound ( Ⅰ )——Reaction of (1, 1-Dialkyl-3-Butenyl) Cyclopentadienyl-magnesium-chloride with Ketones

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Chemical Research in Chinese Universities 1992年第4期8卷 370-376页

作者： LI ji-hai , liu jin-ting, jiAO Lun-ji, ZHANG Xiao-qing, MA Yu-dao and ZHANG Nan (Department of Applied Chemistry, Shandong University, jinan, 250100)

The substituted cyclopentadienyl-magnesium-chloride, obtained by exocyclic addition of 6,6-dialkylfulvene and allyl-magnesium-chloride, reacted with the ketone 3, the product was hydrolyzed and dehydrated to give the 2-(1 ,1-dialkyl-3-butenyl)-6,6-dialkyl-fulvene 5. The structure of 5 was determined by using the 1H NMR spectra of 5 and the adducts of 5 with tetracyanoethylene.

关键词： Substituted cyclopentadienyl-magnesium-chloride Ketone Fulvene

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Development of an intensive simulating training program in emergency medicine for medical students in China

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World Journal of Emergency Medicine 2022年第1期13卷 23-26页

作者： Xin Lu Shi Feng Shi-gong Guo Mu-bing Qin Xiang-ning liu Shi-yuan Yu Li-na Zhao Zeng-zheng Ge jing-jing Chai Sheng-yong Xu Di Shi ji-hai liu Hua-dong Zhu Yi Li Emergency Department State Key Laboratory of Complex Severe and Rare DiseasesPeking Union Medical College HospitalPeking Union Medical CollegeChinese Academy of Medical SciencesBeijing 100730China Department of Rehabilitation Medicine Southmead HospitalBristol BS105NBUnited Kingdom

BACKGROUND: A national standardized emergency medicine(EM) curriculum for medical students, including specific competencies in procedural skills, are absent in many countries. The development of an intensive simulating training program in EM, based on a tight schedule, is anticipated to enhance the competency of medical ***: A 3-day intensive EM training program, consisting of four procedural skills and 8-hour case-based learning(CBL), was developed by experienced physicians from the EM department in Peking Union Medical College Hospital(PUMCH). Medical students from Peking Union Medical College(PUMC) and Tsinghua University(THU) participated in the training. Three written tests were cautiously designed to examine the short-term(immediately after the program) and long-term(6 months after the program) efficacy of the training. After completion of the training program, an online personal appraisal questionnaire was distributed to the students on WeChat(a mobile messaging App commonly used in China) to achieve anonymous ***: Ninety-seven out of 101 students completed the intensive training and took all required tests. There was a significant increase in the average score after the intensive simulating training program(pre-training 13.84 vs. 15.57 post-training, P<0.001). Compared with the pre-training test, 63(64.9%) students made progress. There was no significant difference in scores between the tests taken immediately after the program and 6 months later(15.57±2.22 vs. 15.38±2.37, P=0.157). Students rated a higher score in all diseases and procedural skills, and felt that their learning was ***: The introduction of a standardized intensive training program in EM focusing on key competencies can improve clinical confidence, knowledge, and skills of medical students toward the specialty. In addition, having such a program can also enhance student’s interest in EM as a career choice which may enhance recruitment into th

关键词： Emergency medicine Medical education Simulation China

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Modified shock index and mortality rate of emergency patients

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World Journal of Emergency Medicine 2012年第2期3卷 114-117页

作者： Ye-cheng liu ji-hai liu Zhe Amy Fang Guang-liang Shan Jun Xu Zhi-wei Qi Hua-dong Zhu Zhong Wang Xue-zhong Yu Department of Emergency Medicine Peking Union Medical College Hospital Department of Anesthesiology and Pain Medicine University of Alberta Institute of Epidemiology Chinese Academy of Medical Sciences Department of Emergency Medicine China-Japan Friendship Hospital

BACKGROUND:This study aimed to determine whether modified shock index(MSI)is associated with mortality that is superior to heart rate,blood pressure,or the shock index(SI).in emergency ***:A retrospective database review was performed on 22 161 patients who presented to Peking Union Medical College Hospital Emergency Department and received intravenous fluids from January 1 to December 31,*** gathered data of the patients on age,gender,vital signs,levels of consciousness,presenting complaints,and SI and MSI were calculated for all ***:Multivariate regression analysis was performed to determine the correlation between risk factors and *** is a significant correlation between emergency patient mortality rate and patient's vital signs obtained at the triage desk(HR>120 beats/min,systolic BP<90 mmHg,diastolic BP<60 mmHg).MSI is a stronger predictor of emergency patient mortality compared to heart rate and blood pressure alone,whereas SI does not have a significant correlation with emergency patient mortality ***:MSI is a clinically significant predictor of mortality in emergency *** may be better than using heart rate and blood pressure *** is not significantly correlated with the mortality rate of the emergency patient.

关键词： Emergency department Modified shock index Mortality rate Predictor Multivariate regression analysis

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中小学校长心理授权与工作倦怠的关系研究

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心理发展与教育 2011年第5期27卷 529-535页

作者：姚计海刘丽华北京师范大学教育学部北京100875

选取425名中小学校长进行问卷调查,考察校长心理授权和工作倦怠的现状,并探讨校长心理授权与工作倦怠的关系。结果发现:(1)校长心理授权和工作倦怠问卷的验证性因素分析模型与数据拟合良好。(2)校长心理授权在任职年限上存在显著差异,任... 详细信息

选取425名中小学校长进行问卷调查,考察校长心理授权和工作倦怠的现状,并探讨校长心理授权与工作倦怠的关系。结果发现:(1)校长心理授权和工作倦怠问卷的验证性因素分析模型与数据拟合良好。(2)校长心理授权在任职年限上存在显著差异,任职5年以下校长的胜任感和心理授权整体显著高于任职6～10年的校长,任职11年以上校长的自我决定显著高于任职6～10年的校长;(3)关于校长工作倦怠,男校长工作怠慢及工作倦怠整体显著高于女校长,学历为大专及以下校长的情绪衰竭、工作怠慢及工作倦怠整体显著高于学历为本科以上的校长,35岁以下校长的低成就感显著高于41～45岁和46岁以上的校长;(4)校长心理授权各维度与其工作倦怠各维度存在非常显著的负相关;回归分析表明,校长心理授权对其工作倦怠具有显著的负向预测作用。

关键词：校长心理授权工作倦怠

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Manufacture the conducting polymer with light

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Science China Chemistry 2025年第01期 8-9页

作者： Yang Li Tianyu Li Yan ji Baoguang liu College of Electronic and Optical Engineering & College of Flexible Electronics (Future Technology) Nanjing University of Posts & Telecommunications

Poly(3,4-ethylenedioxythiophene) (PEDOT), heralded as the “king” of conducting polymers, is esteemed in bioelectronics for its mixed electronic and ionic conductivity, mechanical properties compatible with biological tissues, tunable healing ability and stability in diverse environments [1]. Based on additive manufacturing of three-dimensional structures,PEDOT realizes the implementation in the efficient production of flexible bioelectronics, the construction of intricate electrode-neural implantations, and the development of smart brain-computer-interfaces [2].

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Potential dependence in electrocatalysis: a theoretical perspective

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Science China Chemistry 2025年第1期 21-25页

作者： Leyu liu Zhaoming Xia Zeyu Wang Yinjuan Chen hai Xiao Department of Chemistry Tsinghua University Fundamental Science Center of Rare Earths Ganjiang Innovation Academy Chinese Academy of Sciences Key Laboratory of Advanced Catalytic Materials and Technology Advanced Catalysis and Green Manufacturing Collaborative Innovation Center Changzhou University

Electrocatalysis is a key technology for the new energy era and sustainable development, serving as the interface for interconversion of electrical and chemical energies, which spans a wide spectrum of applications in sustainable energy and environmental engineering. Electrocatalytic reactions including electrochemical CO2reduction reaction （eCO2RR）, hydrogen evolution reaction （HER）, and oxygen evolution/reduction reactions （OER/ORR）, hold essential promise for renewable energy technologies as well as complement the biogeochemical carbon and oxygen cycles.

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无外接电源富集装置-手持式XRF现场分析水体中重金属

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光谱学与光谱分析 2017年第1期37卷 267-272页

作者：焦距詹秀春翟磊樊兴涛温宏利袁继海刘晓郭澍国家地质实验测试中心北京100037 中国地质大学(武汉)材料与化学学院湖北武汉430074

水体中重金属污染越来越受到人们的关注与重视,急需开发高效低耗、利于推广的便携式的水质检测技术,帮助地质及环境领域的工作者现场获取实验数据,对污染区域及时做出准确的水体环境评价,有助于水体污染的预防与治理工作。采用无外接电... 详细信息

水体中重金属污染越来越受到人们的关注与重视,急需开发高效低耗、利于推广的便携式的水质检测技术,帮助地质及环境领域的工作者现场获取实验数据,对污染区域及时做出准确的水体环境评价,有助于水体污染的预防与治理工作。采用无外接电源的富集装置,在pH 4的条件下以S-930螯合树脂捕集水体中的重金属,经抽滤制得均匀薄膜样,再使用手持式XRF现场分析水体中Mn,Fe,Ni,Cu,Zn和Pb等6种重金属元素。各元素标准曲线的相关性r>0.992,方法检出限为5.8~18.6μg·L-1,精确度基本控制在15%RSD以内。方法应用于我国东北某矿区周边采集的20余个地表/下水样品的现场分析,检测结果与实验室ICP-MS结果进行了对比:两种方法的Pb,Ni和Cu一致性良好;Zn和Mn含量高的样品,ICP-MS结果高于现场XRF结果,可能因溶液中存在细微悬浮颗粒引起,但总体趋势一致;两种方法对水质类型的总体判断结果一致。本法使用的富集和测量装置体积小、重量轻、便于携带,不使用外接电源,可在12h内现场完成10个水体样品的采集、前处理操作、结果获取及数据处理等工作,避免实验室分析方法检测工作中存在的交通运输、测试周期长、测试成本高等问题,基本具备了在偏远地区现场分析水体中六种重金属元素、评定水质的能力,具有较好的推广应用前景。

关键词：手持式XRF 无外接电源化学富集薄膜法现场分析水体样品重金属

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政务公开与社会主义民主政治

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吉林大学社会科学学报 2002年第5期42卷 105-110页

作者：姬国海刘皓吉林大学行政学院吉林长春130012 长春市行政学院吉林长春130022

政务公开是保证公民权利、促进民主政治发展的活动过程 ,是民主政治的一种体现 ,政务公开性就是民主性。就民主的内容而言 ,公民权是民主政治运行的核心 ,政务公开主要针对公民权的完善和发展。政务公开依赖于国家政治统治过程中国家权... 详细信息

政务公开是保证公民权利、促进民主政治发展的活动过程 ,是民主政治的一种体现 ,政务公开性就是民主性。就民主的内容而言 ,公民权是民主政治运行的核心 ,政务公开主要针对公民权的完善和发展。政务公开依赖于国家政治统治过程中国家权力与公民权利二者的结合程度。我国的政务公开把社会主义民主原则转变成了可操作的程序和规则 ,推动了我国社会主义民主的发展进程。政务公开促进了行政管理现代化 ,提高了公共权力运作的透明度 ,有效地抑制了腐败现象。

关键词：政务公开民主政治公民权利

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Decreased levels of phosphorylated synuclein in plasma are correlated with poststroke cognitive impairment

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Neural Regeneration Research 2025年第9期20卷 2598-2610页

作者： Yi Wang Yuning Li Yakun Gu Wei Ma Yuying Guan Mengyuan Guo Qianqian Shao Xunming ji jia liu Department of Clinical Laboratory Beijing Bo’ai HospitalChina Rehabilitation Research CenterCapital Medical UniversityBeijingChina Beijing Institute of Brain Disorders Laboratory of Brain DisordersMinistry of Science and TechnologyCollaborative Innovation Center for Brain DisordersBeijing Advanced Innovation Center for Big Data-based Precision MedicineCapital Medical UniversityBeijingChina Department of Neurosurgery Xuanwu HospitalCapital Medical UniversityBeijingChina

Poststro ke cognitive impairment is a major secondary effect of ischemic stroke in many patients;however,few options are available for the early diagnosis and treatment of this *** aims of this study were to(1)determine the specific relationship between hypoxic andα-synuclein during the occur of poststroke cognitive impairment and(2)assess whether the serum phosphorylatedα-synuclein level can be used as a biomarker for poststro ke cognitive *** found that the phosphorylatedα-synuclein level was significantly increased and showed pathological aggregation around the cerebral infa rct area in a mouse model of ischemic *** addition,neuronalα-synuclein phosphorylation and aggregation were observed in the brain tissue of mice subjected to chronic hypoxia,suggesting that hypoxia is the underlying cause ofα-synuclein-mediated pathology in the brains of mice with ischemic *** phosphorylatedα-synuclein levels in patients with ischemic stroke were significantly lower than those in healt hy subjects,and were positively correlated with cognition levels in patients with ischemic ***,a decrease in serum high-density lipoprotein levels in stroke patie nts was significantly correlated with a decrease in phosphorylatedα-synuclein *** ischemic stroke mice did not show significant cognitive impairment or disrupted lipid metabolism 14 days after injury,some of them exhibited decreased cognitive function and reduced phosphorylatedα-synuclein *** together,our results suggest that serum phosphorylatedα-synuclein is a potential biomarker for poststroke cognitive impairment.

关键词： biomarker high-density lipoprotein ischemic stroke phosphorylatedα-synuclein poststroke cognitive impairment

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