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Clinical significance of germline copy number variation in susceptibility of human diseases

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Journal of Genetics and Genomics 2018年第1期45卷 3-12页

作者： Liwen Hu xinyue yao Hairong Huang Zhong Guo Xi Cheng Yang Xu Yi Shen Biao Xu Demin Li Department of Cardiothoracic Surgery Jinling Hospital School of Clinical Medicine Nanjing University Institute of Laboratory Medicine Jinling Hospital School of Clinical Medicine Nanjing University

Germline copy number variation （CNV） is considered to be an important form of human genetic poly- morphisms. Previous studies have identified amounts of CNVs in human genome by advanced technologies, such as comparative genomic hybridization, single nucleotide genotyping, and high-throughput sequencing. CNV is speculated to be derived from multiple mechanisms, such as nonallelic homologous recombination （NAHR） and nonhomologous end-joining （NHEJ）. CNVs cover a much larger genome scale than single nucleotide polymorphisms （SNPs）, and may alter gene expression levels by means of gene dosage, gene fusion, gene disruption, and long-range regulation effects, thus affecting individual phenotypes and playing crucial roles in human pathogenesis. The number of studies linking CNVs with common complex diseases has increased dramatically in recent years. Here, we provide a comprehensive review of the current understanding ofgermline CNVs, and summarize the association of germline CNVs with the susceptibility to a wide variety of human diseases that were identified in recent years. We also propose potential issues that should be addressed in future studies.

关键词： Copy number variation Susceptibility Risk Cancer Neuropsychological disorders

变电站周围管网及新建地网系统对原接地网特性参数的影响

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电网与清洁能源 2024年第3期40卷 1-9,21页

作者：马成廉姚新岳王乐天郑轩宋萌清李闯孙黎郭东波现代电力系统仿真控制与绿色电能新技术教育部重点实验室(东北电力大学) 吉林吉林132012 山东电力工程咨询院有限公司山东济南250013 吉林化工学院信息与控制工程学院吉林吉林132022

“双碳”目标的大背景下,随着以高比例新能源为主体的新型电力系统的建设,原变电站接地网已然难以满足当下需求,存在着新改造地网与老旧地网的安全运行问题以及周围地下金属管网的接入使改造地网产生的参数变动问题。接地网的某项参数... 详细信息

“双碳”目标的大背景下,随着以高比例新能源为主体的新型电力系统的建设,原变电站接地网已然难以满足当下需求,存在着新改造地网与老旧地网的安全运行问题以及周围地下金属管网的接入使改造地网产生的参数变动问题。接地网的某项参数不达标,则会影响变电站和站内设备的稳定运行,对人身安全造成严重的影响。因此,需要分析改建地网及金属管网等原变电站周围管网系统参数指标的安全限值,综合考虑分层土壤结构、地下金属管网及其他周围地形对于改建地网安全运行的影响效应。基于矩量法并结合CDEGS接地网仿真软件搭建了新旧地网以及周边金属管道数学模型,综合考虑各种土壤特性下变电站周围金属管道以及新建地网对原变电站的各个特性参数,进行了分析研究,获得了多种情况下变电站接地网与金属管道以及原接地网与新建地网之间的阻性耦合影响曲线及各项接地参数的对比,并据此提出相应的防护措施。实验发现:对金属管道敷设绝缘层可以有效减小管道的散流作用,但对降低接触电压并不明显,敷设绝缘层前后接触电压仅下降3%;将新建地网与原接地网相连使原变电站接地网最大接触电压下降28.1%,降阻率达20%。为变电站接地网改造工程及新型电力系统的构建提供一定的理论依据。

关键词：变电站新建接地网金属管网矩量法

Gain deeper insights into traditional Chinese medicines using multidimensional chromatography combined with chemometric approaches

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Chinese Herbal Medicines 2024年第1期16卷 27-41页

作者： xinyue Yang Pingping Zeng Jin Wen Chuanlin Wang Liangyuan yao Min He Department of Pharmaceutical Engineering School of Chemical EngineeringXiangtan UniversityXiangtan 411105China Hunan Qianjin Xiangjiang Pharmaceutical Joint Stock Co. Ltd.Zhuzhou 412000China

Traditional Chinese medicines(TCMs)possess a rich historical background,unique theoretical framework,remarkable therapeutic efficacy,and abundant resources.However,the modernization and internationalization of TCMs have faced significant obstacles due to their diverse ingredients and unknown mechanisms.To gain deeper insights into the phytochemicals and ensure the quality control of TCMs,there is an urgent need to enhance analytical techniques.Currently,two-dimensional(2D)chromatography,which incorporates two independent separation mechanisms,demonstrates superior separation capabilities compared to the traditional one-dimensional(1D)separation system when analyzing TCMs samples.Over the past decade,new techniques have been continuously developed to gain actionable insights from complex samples.This review presents the recent advancements in the application of multidimensional chromatography for the quality evaluation of TCMs,encompassing 2D-gas chromatography(GC),2D-liquid chromatography(LC),as well as emerging three-dimensional(3D)-GC,3D-LC,and their associated data-processing approaches.These studies highlight the promising potential of multidimensional chromatographic separation for future phytochemical analysis.Nevertheless,the increased separation capability has resulted in higher-order data sets and greater demands for data-processing tools.Considering that multidimensional chromatography is still a relatively nascent research field,further hardware enhancements and the implementation of chemometric methods are necessary to foster its robust development.

关键词： chemometrics multidimensional separation off-line two-dimensional liquid chromatography on-line two-dimensional liquid chromatography quality control traditional chinese medicines two-dimensional gas chromatography

Metal-organic framework and its composites modulate macrophage polarization in the treatment of inflammatory diseases

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Chinese Chemical Letters 2024年第5期35卷 45-56页

作者： Feifei Wang Hang yao xinyue Wu Yijian Tang Yang Bai Hui Chong Huan Pang School of Chemistry and Chemical Engineering Yangzhou UniversityYangzhou 225002China School of Pharmacy Changzhou UniversityChangzhou 213164China State Key Laboratory of Coordination Chemistry Nanjing UniversityNanjing 210023China

Metal-organic framework(MOF)is a periodic sexual network structure with large surface area and high porosity,which is assembled by inorganic nodes and organic ligands through coordinate covalent bond.MOFs have the advantages of controllable pore size and shape,large specific surface area,easy modification and more active sites.In addition,MOF based nanoenzymes display excellent enzyme catalytic activity due to their special structure and multiple exposed metal active sites,controlling the production of reactive oxygen species(ROS)in cells or the body,and thus regulating the polarization of macrophage.This article reviews the mechanism of MOF material regulating macrophage polarization and the function of macrophages with different phenotypes.By utilizing the excellent properties of MOFs and the advantages of combining them with bioactive materials,we have discovered their excellent applications in the treatment of inflammatory diseases.Finally,we discussed the current challenges and prospects faced by MOF based composite materials.We expect that the research in this developing field will play a more important role in combating inflammatory diseases in the field of nanomedicine.

关键词： Metal-organic framework Inflammation Macrophage polarization Reactive oxygen species Nanozyme activity

Photo-manipulated polyunsaturated fatty acid-doped liposomal hydrogel for flexible photoimmunotherapy

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Chinese Chemical Letters 2024年第4期35卷 268-274页

作者： xinyue Lan Junguang Liang Churan Wen Xiaolong Quan Huimin Lin Qinqin Xu Peixian Chen Guangyu yao Dan Zhou Meng Yu Breast Center Department of General SurgeryNanfang HospitalSouthern Medical UniversityGuangzhou 510515China NMPA Key Laboratory for Research and Evaluation of Drug Metabolism&Guangdong Provincial Key Laboratory of New Drug Screening School of Pharmaceutical SciencesSouthern Medical UniversityGuangzhou 510515China Department of Breast Surgery The First People's Hospital of FoshanFoshan 528100China Zhujiang Hospital Southern Medical UniversityGuangzhou 510282China

Despite the synergy of immune checkpoint blockade(ICB) therapy and photodynamic therapy(PDT) holds great promise as countermeasures against breast cancer, exploring long-term or flexible short-time therapeutic strategies in “cold” tumors remains a great challenge. Here, we present a polyunsaturated fatty acid-doped liposomal hydrogel Lp(DHA)@CP Gel loaded with photosensitizer chlorin e6(Ce6) and programmed death-ligand 1 antibody(αPD-L1) for flexible local photoimmunotherapy with merely singledosed administration. The presence of polyunsaturated fatty acid(docosahexaenoic acid, DHA) doped in particle membrane endows liposomes with flexibly reactive oxygen species(ROS)-responsive release capability, which was attributed to the presence of abundant unsaturated groups. The αPD-L1 was repeatedly induced to in situ release in response to the PDT under photo-exposure. The immunogenic cell death(ICD) effect of PDT evoked “cold” breast tumor to “hot” one, and then assisted the cascade releasedαPD-L1 to synergistically boost the immunotherapy. After a single dose of peritumoral administration of Lp(DHA)@CP Gel, the on-demand treatment can maximize patient compliance and safety by adjusting therapeutic behaviors via a photo on-off switch. This work presents a flexible medication platform,showing promise in improving the objective response rate of ICB therapy and minimizing its systemic toxicity.

关键词： Photodynamic therapy Immunotherapy Responsive release Immunogenic cell death Liposomal hydrogel

Study on blood pressure rhythm in hypertensive patients with Yin deficiency syndrome and a random forest model for predicting hypertension with Yin deficiency syndrome

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Journal of Traditional Chinese Medicine 2024年第3期44卷 564-571页

作者： ZHOU Ying LI Ping LUAN Jianwei SHEN Rui WU Yinglan XU Qiwen WANG xinyue ZHU yao XU Xiangru LIU Zitian JIANG Yuning ZHONG Yong HE Yun JIANG Weimin Department of Cardiology the Affiliated Hospital of Nanjing University of Chinese MedicineJiangsu Province Hospital of Traditional Chinese Medicine Department of Health Management Centre Jinling HospitalAffiliated Hospital of Medical SchoolNanjing University Emergency Department Longhua HospitalShanghai University of Traditional Chinese Medicine Department of General Internal Medicine the Affiliated Hospital of Nanjing University of Chinese MedicineJiangsu Province Hospital of Traditional Chinese Medicine

OBJECTIVE: To investigate blood pressure rhythm(BPR)in Yin deficiency syndrome of hypertension(YDSH)patients and develop a random forest model for predicting YDSH.METHODS: Our study was consistent with technical processes and specification for developing guidelines of Evidence-based Chinese medicine clinical practice(T/CACM 1032-2017). We enrolled 234 patients who had been diagnosed with primary hypertension without antihypertensive medications prior to the enrollment. All participants were divided into Yin deficiency group(YX, n = 74) and non-Yin deficiency group(NYX, n = 160).Participants were professionally grouped by three experienced chief Traditional Chinese Medicine(TCM)physicians according to four examinations(i.e.,inspection, listening and smelling, inquiry and palpation).We collected data on 24 h ambulatory blood pressure monitoring(ABPM) and YDSH rating scale. We divided 24 h of a day into 12 two-hour periods [Chen-Shi(7:00-9:00), Si-Shi(9:00-11:00), Wu-Shi(11:00-13:00), Wei-Shi(13:00-15:00), Shen-Shi(15:00-17:00), You-Shi(17:00-19:00), Xu-Shi(19:00-21:00), Hai-Shi(21:00-23:00), ZiShi(23:00-1:00), Chou-Shi(1:00-3:00), Yin-Shi(3:00-5:00), Mao-Shi(5:00-7:00)] according to the theory of “midnight-midday ebb flow”. We used random forest to build the diagnostic model of YDSH, with whether it was Yin deficiency syndrome as the outcome. RESULTS: Compared with NYX group, YX group had more female participants with older age, lower waist circumference, body mass index(BMI), diastolic blood pressure(DBP), and smoking and drinking rate(all P < 0.05). The YDSH rating scores of YX group [28.5(21.0-36.0)] were significantly higher than NYX group [13.0(8.0-22.0)](P < 0.001), and the typical symptoms of YX group included vexing heat in the chest, palms and soles, dizziness, dry eyes, string-like and fine pulse, soreness and weakness of lumbus and knees, palpitations, reddened cheeks, and tinnitus(all P < 0.05). The ratio of non-dipper hypertension in YX group was higher than in NYX group(56.9% vs 44.4%, P = 0.004). Com

关键词： blood pressure rhythm blood pressure variability hypertension random forest Yin deficiency syndrome

职业教育促进代际流动的动能循证——基于CFPS的经验证据

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教育科学 2023年第3期39卷 66-74页

作者：易全勇姚歆玥西南大学教育学部重庆400715 华东师范大学教育经济实验室上海200062

职业教育是与普通教育具有同等重要地位的教育类型,但在促进社会流动中发挥的效用是不同的。利用中国家庭追踪调查数据,基于教育社会学的经典理论视角,考察普职双轨路径选择下职业教育对代际职业流动的影响发现:接受中等职业教育能促进... 详细信息

职业教育是与普通教育具有同等重要地位的教育类型,但在促进社会流动中发挥的效用是不同的。利用中国家庭追踪调查数据,基于教育社会学的经典理论视角,考察普职双轨路径选择下职业教育对代际职业流动的影响发现:接受中等职业教育能促进个体代际职业向上流动并有效防止代际职业向下流动,对弱势群体的作用尤其明显;囿于高等职业教育中存在的内源性教育劣势和外源性结构劣势,与接受普通本科教育相比,接受高等职业教育既不能促进个体代际职业向上流动,也不能防止其代际职业向下流动;普职融通教育与普高普本教育对代际职业向上流动的促进作用优于中高职贯通教育。

关键词：代际职业流动职业教育教育公平多元逻辑斯模型

“寒门”如何出贵子:高职院校中的“文化流动”与“文化生产”

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职业技术教育 2023年第34期44卷 36-45页

作者：姚歆玥曹妍华东师范大学高等教育研究所上海200062

来自重点本科院校贫寒学子的成长经历一直备受关注,而职业院校中的“寒门”子弟却无人问津。依托文化资本理论,通过对11位取得较高社会地位的高职院校毕业生进行半结构化访谈,探究高职院校中正式教育(课程)与非正式教育经历(校企联合实... 详细信息

来自重点本科院校贫寒学子的成长经历一直备受关注,而职业院校中的“寒门”子弟却无人问津。依托文化资本理论,通过对11位取得较高社会地位的高职院校毕业生进行半结构化访谈,探究高职院校中正式教育(课程)与非正式教育经历(校企联合实习、社团活动、学生干部经历、竞赛)促成寒门学子发生代际流动的可行性所在。研究发现:其一,高职院校为寒门学子文化资本的积累与生成提供了空间与资源;其二,苦行品质作为独特的底层文化资本,在高职院校中依然适用,成为寒门学子逆境突围的希望;其三,在高职院校中,寒门学子主要通过“文化流动”与“文化生产”双重路径实现阶层跃迁,具体是通过“文化流动”学习技能,获得人力资本;在后知后觉中渐入佳境,习得社交惯习;通过“文化生产”探索并“重估”自我价值,生成自信力。

关键词：文化流动文化生产高职院校底层文化资本非正式教育经历

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南京汤山矿坑公园茶室设计札记

建筑学报 2022年第9期 66-71页

作者：王建国朱渊姚昕悦东南大学建筑学院南京210096

1楔子汤山,历史悠久,文化积淀丰厚。因特殊的山形地貌和温泉资源蜚声中外。在过去快速的城市化进程中,粗放的经济发展思路导致资源过度开发,引发汤山南麓被大面积开山采石,原始自然地貌遭到严重破坏。于是,原本郁郁葱葱的山体出现了多... 详细信息

1楔子汤山,历史悠久,文化积淀丰厚。因特殊的山形地貌和温泉资源蜚声中外。在过去快速的城市化进程中,粗放的经济发展思路导致资源过度开发,引发汤山南麓被大面积开山采石,原始自然地貌遭到严重破坏。于是,原本郁郁葱葱的山体出现了多处大小不等的裸露宕口。随着后工业时代采石作业偃旗息鼓,场地似乎又重新开始了一个自然复育的过程。如今,雷管炸药开山采矿、重型卡车运输山石的轰鸣噪声已经消弭远去,满目疮痍的采矿宕口的山体逐渐又聚集起繁衍生息的鸟群。

关键词：开山采石自然地貌温泉资源经济发展思路南京汤山过度开发重型卡车后工业时代