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Sin3A基因变异致Witteveen-Kolk综合征遗传学分析

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检验医学 2024年第2期39卷 126-131页

作者：卢亚亚彭慧芳王剑娄丹河南科技大学第一附属医院儿童保健科河南洛阳471003 河南科技大学第一附属医院内分泌代谢中心河南省罕见病重点实验室河南洛阳471003 上海交通大学医学院附属国际和平妇幼保健院上海200030

目的探讨开关不敏感3转录调节因子家族成员A(Sin3A)基因变异导致的Witteveen-Kolk综合征临床表型和遗传学特点。方法收集1例发育迟缓患儿的临床资料,对患儿及其父母进行全外显子基因测序,采用Sanger测序验证可疑变异,并进行家系分析... 详细信息

目的探讨开关不敏感3转录调节因子家族成员A(Sin3A)基因变异导致的Witteveen-Kolk综合征临床表型和遗传学特点。方法收集1例发育迟缓患儿的临床资料,对患儿及其父母进行全外显子基因测序,采用Sanger测序验证可疑变异,并进行家系分析。结合文献分析Witteveen-Kolk综合征的临床特征和基因变异特点。结果 Witteveen-Kolk综合征患儿临床表现主要为轻中度智力障碍或发育迟缓、特殊面容(长脸、前额突出、鼻梁凹陷、长人中等)、身材矮小。颅脑磁共振成像(MRI)显示不同程度的脑畸形。全外显子基因测序结果显示,患儿Sin3A基因存在移码变异c.803dupC(***269Thrfs*37)(杂合)。Sanger测序证实存在变异位点,患儿父母该位点均为正常基因型。gnomAD等对照人群数据库未收录该变异位点,根据美国医学遗传学和基因组学学会(ACMG)/美国分子病理学学会(AMP)指南归类为“致病性”变异。结论 Sin3A基因变异可导致Witteveen-Kolk综合征。基因检测可明确生长发育迟缓伴特殊面容患儿的病因。

关键词：开关不敏感3转录调节因子家族成员A基因全外显子组测序 Witteveen-Kolk综合征智力发育障碍发育迟缓

lncRNA CBR3-AS1调节miR-145-5p/FSCN1轴对鼻咽癌细胞增殖、凋亡和侵袭的影响

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中国细胞生物学学报 2024年第3期46卷 515-525页

作者：王华新娄丹杨磊张海忠刘丽莎石家庄市第六医院耳鼻喉科石家庄050000 秦皇岛市第一医院耳鼻喉头颈外科秦皇岛066000 河北医科大学第二医院耳鼻喉科石家庄050000

该文旨在探究长链非编码RNA CBR3-AS1(lncRNA CBR3-AS1)靶向微小RNA-145-5p(miR-145-5p)/肌动蛋白束蛋白1(FSCN1)轴对鼻咽癌(NPC)细胞增殖、凋亡和侵袭的影响。qRTPCR法检测鼻咽癌组织中lncRNACBR3-AS1和miR-145-5p的表达水平。将鼻咽癌细胞CNE-1分为si-NC组、si-CBR3-AS1组、si-CBR3-AS1+anti-miR-NC组、si-CBR3-AS1+anti-miR-145-5p组、miR-NC组、miR-145-5pmimics组、miR-145-5pmimics+pcDNA组、miR-145-5pmimics+FSCN1组。双荧光素酶实验检测lncRNA CBR3-AS1和miR-145-5p及FSCN1和miR-145-5p的靶向关系;MTT法检测细胞增殖情况;Annexin V-FITC/PI法检测细胞凋亡情况;Transwell实验检测细胞侵袭能力;Western blot检测细胞周期负调控因子(P21)、B淋巴细胞瘤-2(Bcl-2)、Bcl-2相关X蛋白(Bax)、基质金属蛋白酶2(MMP-2)、基质金属蛋白酶9(MMP-9)的蛋白表达变化。建立小鼠移植瘤模型,探究lncRNA CBR3-AS1对鼻咽癌移植瘤生长及miR-145-5p/FSCN1轴的影响。在鼻咽癌组织中,lncRNA CBR3-AS1表达上调,miR-145-5p表达下调(P<0.05)。干扰lncRNA CBR3-AS1或上调miR-145-5p表达可以抑制鼻咽癌细胞的增殖与侵袭,促进鼻咽癌细胞凋亡(P<0.05)。下调miR-145-5p表达或上调FSCN1表达可以逆转干扰lncRNA CBR3-AS1表达或上调miR-145-5p表达对鼻咽癌细胞的增殖与侵袭的抑制作用(P<0.05)。小鼠移植瘤实验显示,下调lncRNA CBR3-AS1表达可上调miR-145-5p表达,从而下调FSCN1表达,抑制鼻咽癌移植瘤的生长(P<0.05)。lncRNA CBR3-AS1在鼻咽癌组织中上调表达,下调lncRNA CBR3-AS1表达可通过调控miR-145-5p/FSCN1轴抑制鼻咽癌细胞的增殖与侵袭,促进细胞凋亡。

关键词：长链非编码RNA CBR3-AS1 微小RNA-145-5p 肌动蛋白束蛋白1 鼻咽癌增殖凋亡侵袭

Effect of Shengmai Yin on Epithelial-Mesenchymal Transition of Nasopharyngeal Carcinoma Radioresistant Cells

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Chinese Journal of Integrative Medicine 2023年第8期29卷 691-698页

作者： WANG Ze-tai PENG Yan lou dan-dan ZENG Si-ying ZHU Yuan-chao LI Ai-wu LYU Ying ZHU Dao-qi FAN Qin School of Traditional Chinese Medicine Southern Medical UniversityGuangzhou(510515)China Department of Traditional Chinese Medicine Nanfang Hospital(510515)China

Objective: To investigate the mechanism by which Chinese medicine Shengmai Yin(SMY)reverses epithelial-mesenchymal transition(EMT) through lipocalin-2(LCN2) in nasopharyngeal carcinoma(NPC)cells CNE-2R. Methods: Morphological changes in EMT in CNE-2R cells were observed under a microscope,and the expressions of EMT markers were detected using quantitative real-time PCR(RT-q PCR) and Western blot assays. Through the Gene Expression Omnibus dataset and text mining, LCN2 was found to be highly related to radiation resistance and EMT in NPC. The expressions of LCN2 and EMT markers following SMY treatment(50 and 100 μg/m L) were detected by RT-q PCR and Western blot assays in vitro. Cell proliferation,migration, and invasion abilities were measured using colony formation, wound healing, and transwell invasion assays, respectively. The inhibitory effect of SMY in vivo was determined by observing a zebrafish xenograft model with a fluorescent label. Results: The CNE-2R cells showed EMT transition and high expression of LCN2,and the use of SMY(5, 10 and 20 μg/mL) reduced the expression of LCN2 and reversed the EMT in the CNE-2R cells. Compared to that of the CNE-2R group, the proliferation, migration, and invasion abilities of SMY high-concentration group were weakened(P<0.05). Moreover, SMY mediated tumor growth and metastasis in a dose-dependent manner in a zebrafish xenograft model, which was consistent with the in vitro ***: SMY can reverse the EMT process of CNE-2R cells, which may be related to its inhibition of LCN2expression. Therefore, LCN2 may be a potential diagnostic marker and therapeutic target in patients with NPC.

关键词： epithelial-mesenchymal transition lipocalin-2 nasopharyngeal carcinoma radiation therapy epithelial-mesenchymal transition lipocalin-2 nasopharyngeal carcinoma radiation therapy Shengmai Yin Chinese medicine

北京市市属医院智慧服务患者就医体验及影响因素研究

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中国医院 2024年第4期28卷 55-59页

作者：易敏曹艳林朱晓瑞朴玉粉杨国胜陈伟娄丹田振苏曼中国医学科学院/北京协和医学院医学信息研究所北京市100020 北京市医院管理中心北京市100053 北京大学第三医院北京市100191 中国医学科学院阜外医院北京市100037 首都医科大学附属北京口腔医院北京市100035 北京大学国际医院北京市102206 北京大学肿瘤医院暨北京市肿瘤防治研究所北京市100142

目的:调研北京市市属医院智慧服务患者就医体验以及影响因素。方法:通过问卷调研北京市22所市属医院5 009例患者,对问卷结果进行统计分析。结果:北京市市属医院智慧服务患者就医体验总体满意,以支付方式便捷性满意评分最高,其次为预约... 详细信息

目的:调研北京市市属医院智慧服务患者就医体验以及影响因素。方法:通过问卷调研北京市22所市属医院5 009例患者,对问卷结果进行统计分析。结果:北京市市属医院智慧服务患者就医体验总体满意,以支付方式便捷性满意评分最高,其次为预约诊疗的便捷性以及个人医疗信息的保密性评分,然而便民服务的便捷性评分相对偏低。多变量分析发现,老年人、对医院智慧服务不太了解者、不能自助完成就诊全流程者以及外地医保者倾向于认为诊中智慧服务需要进一步改善。结论:北京市市属医院智慧服务建设在支付方式、预约诊疗以及个人医疗信息保密性等方面总体取得满意效果。然而,在医院便民服务上有待进一步加强,针对老年人、不了解医院智慧服务者等特定人群,需重点加强医院诊中智慧服务。

关键词：医院智慧服务患者就医体验多中心调研

What can we learn from quality assurance badges in open-source software?

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Science China(Information Sciences) 2024年第4期67卷 146-163页

作者： Feng LI Yiling lou Xin TAN Zhenpeng CHEN Jinhao DONG Yang LI Xuanzhi WANG dan HAO Lu ZHANG MoE Key Lab of HCST School of Computer SciencePeking University Department of Computer Science Purdue University School of Computer Science & Engineering Beihang University(BUAA) Department of Computer Science University College London(UCL)

In the development of open-source software(OSS), many developers use badges to give an overview of the software and share some key features/metrics conveniently. Among various badges, quality assurance(QA) badges make up a large proportion and are the most prevalent because QA is of vital importance in software development, and ineffective QA may lead to anomalies or defects. In this paper, we focus on QA badges in open-source projects, which present quality assurance information directly and instantly,and aim to produce some interesting findings and provide practical implications. We collect and analyze 100000 projects written in popular programming languages from GitHub and conduct a comprehensive empirical study both inside and outside QA badges. Inside QA badges, we build a category classification for all QA badges based on the properties they focus on, which shows the types of QA badges developers use. Then,we analyze the frequency of the properties that QA badges focus on, and property combinations, too, which present their use status. We find that QA badges focus on various properties while developers give different preferences to different properties. The use status also differs between different programming languages. For example, projects written in C focus on Security to a great extent. Our findings also provide implications for developers and badge providers. Outside QA badges, we conduct a correlation analysis between QA badges and some software metrics that have potential relationships with code quality, contribution quality, and popularity. We find that QA badges have statistically significant correlations with various software metrics.

关键词： quality assurance badge open-source software code quality empirical study

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Species Composition and Diversity of Macrobenthos in the Intertidal Zone of Xiangshan Bay,China

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Journal of Ocean University of China 2015年第2期14卷 375-384页

作者： JIAO Haifeng ZHENG dan YOU Zhongjie XU Nianjun lou dan HUANG Chengwei School of Marine Science Ningbo University Ningbo Academy of Oceanology and Fishery

Xiangshan bay is a narrow semi-closed bay and situated on the northwestern coast of the East China Sea. Over past decades, it has become to a major bay with intensive human activities, dense urbanized area, and poor water quality. The aim of this paper was to reveal the ecological status through the elucidation of the species composition, abundance, biomass and diversity of macrobenthos in this bay. Six intertidal sections were surveyed from January 2007 to November 2008 quarterly. Sections TG, HD and XH are located in the three inner bays, sections QJ and WS are located near the thermal power plants, and section XX is located at the outer part of Xiangshan Bay. Great variations in macrobenthos community were indentified, and the species composition of the community in the present study showed the dominance in the order of molluscs(bivalves and gastropods), crustaceans and others, and only few Polychaeta were recorded. Only three dominant species, Littorina brevicula, Ilyplax tansuiensis, and Cerithidea cingulata were collected in all the sections, and a total of 19 dominant species were recorded only in one section. Two-way ANOVA analyses of abundance indicated that there were significant differences among sections or seasons. Shannon-Wiener diversity index(H') had its maximum(2.45) in section QJ, and minimum(1.76) in section TG. Multiple irregular k-dominance plots clearly showed that the study area was polluted and the macrobenthos community was under stress. We conclude that the macrobenthos of Xiangshan Bay have been disturbed by human activities, especially at the interior bay.

关键词：动物多样性物种组成中国东海大型底栖动物群落潮间带人类活动城市化地区甲壳类动物

Impact of short-term ambient air pollution exposure on the risk of severe COVID-19

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Journal of Environmental Sciences 2024年第1期135卷 610-618页

作者： Baihuan Feng Jiangshan Lian Fei Yu dan Zhang Weizhen Chen QiWang Yifei Shen Guoliang Xie Ruonan Wang Yun Teng Bin lou Shufa Zheng Yida Yang Yu Chen Department of Laboratory Medicine The First Affiliated HospitalZhejiang University School of MedicineHangzhou 310000China Key Laboratory of Clinical In Vitro Diagnostic Techniques of Zhejiang Province Hangzhou 310000China Institute of Laboratory Medicine Zhejiang UniversityHangzhou 310000China Department of Infectious Diseases The First Affiliated HospitalZhejiang University School of MedicineHangzhou 310000China State Key Laboratory for Diagnosis and Treatment of Infectious Diseases National Clinical Research Center for Infectious DiseasesCollaborative Innovation Center for Diagnosis and Treatment of Infectious Diseasesthe First Affiliated HospitalZhejiang University School of MedicineHangzhou 310000China

Ecological studies suggested a link between air pollution and severe COVID-19 outcomes,while studies accounting for individual-level characteristics are *** the present study,we aimed to investigate the impact of short-term ambient air pollution exposure on disease severity among a cohort of 569 laboratory confirmed COVID-19 patients admitted to designated hospitals in Zhejiang province,China,from January 17 to March 3,2020,and elucidate the possible biological processes involved using *** with mild cases,severe cases had higher proportion of medical conditions as well as unfavorable results in most of the laboratory tests,and manifested higher air pollution exposure *** exposure to air pollutants was associated with increased risk of severe COVID-19 with odds ratio(OR)of 1.89(95%confidence interval(CI):1.01,3.53),2.35(95%CI:1.20,4.61),2.87(95%CI:1.68,4.91),and 2.01(95%CI:1.10,3.69)for PM_(2.5),PM_(10),NO_(2)and CO,*** for NO_(2)remained significant in two-pollutant models after adjusting for other *** analysis showed 884 differentially expressed genes which mainly were enriched in virus clearance related biological processes between patients with high and low NO_(2)exposure levels,indicating that compromised immune response might be a potential underlying mechanistic *** findings highlight the impact of shortterm air pollution exposure,particularly for NO_(2),on COVID-19 severity,and emphasize the significance in mitigating the COVID-19 burden of commitments to improve air quality.

关键词： Air pollution COVID-19 Severity Transcriptomics Immune response

八九十年代美国半数倒闭银行集中在三个州--成因、处置与监管改革

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中国金融 2023年第8期 79-83页

作者：孙天琦楼丹中国人民银行金融稳定局

银行业危机概况1980年初,美国共有18727家联邦存款保险投保机构,其中,商业银行14364家,储蓄机构4363家。1980~1994年共有2912家投保机构倒闭。其中,有1617家银行被关闭或接受过FDIC的救助,有1295家储贷机构被关闭或接受过联邦储贷保险公... 详细信息

银行业危机概况1980年初,美国共有18727家联邦存款保险投保机构,其中,商业银行14364家,储蓄机构4363家。1980~1994年共有2912家投保机构倒闭。其中,有1617家银行被关闭或接受过FDIC的救助,有1295家储贷机构被关闭或接受过联邦储贷保险公司(FSLIC)的救助。

关键词：银行业危机储蓄机构商业银行 FDIC 保险公司八九十年代投保机构监管改革

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假肥大型肌营养不良治疗进展

中国临床研究 2022年第2期35卷 267-271页

作者：蔡潇艺娄丹杨兴鸽河南科技大学临床医学院河南洛阳471003 河南科技大学第一附属医院河南洛阳471003

假肥大型肌营养不良是一组严重性进行性遗传性肌病,有假肥大型肌营养不良(duchenne muscular dystrophy,DMD)和良性Duchenne肌营养不良(BMD)两种类型。由于DMD/BMD是X连锁隐性遗传性疾病,男性多发,且DMD最常见,全世界每3500~5000个新生... 详细信息

假肥大型肌营养不良是一组严重性进行性遗传性肌病,有假肥大型肌营养不良(duchenne muscular dystrophy,DMD)和良性Duchenne肌营养不良(BMD)两种类型。由于DMD/BMD是X连锁隐性遗传性疾病,男性多发,且DMD最常见,全世界每3500~5000个新生儿中就会有一名患者,女性携带者大多表型正常,少数可出现部分症状,是罕见病中的常见病。患儿的护理和疾病管理改善减缓了疾病的进展,但目前的治疗方法无法阻止肌肉组织和功能的无情丧失,导致过早死亡。本文通过查阅国内外文献对DMD/BMD型肌营养不良的治疗进展作一综述。

关键词：假肥大型肌营养不良遗传肌酸激酶肌电图治疗激素基因治疗