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表现为多脑神经受损的芬兰型家族性淀粉样变性一例

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中华神经科杂志 2021年第6期54卷 579-584页

作者：陈彬张在强牛松涛邰宏飞潘华董格红瞿远珍首都医科大学附属北京天坛医院神经病学中心国家神经系统疾病临床医学研究中心100070 首都医科大学附属北京天坛医院病理科 100070 首都医科大学附属北京天坛医院眼科 100070

目的报道1例芬兰型家族性淀粉样变性患者的临床、病理、电生理和遗传学特点。方法对2.2.年6月就诊于首都医科大学附属北京天坛医院的1例芬兰型家族性淀粉样变性患者的临床特征进行总结,并对患者进行电生理检查,唇腺、直肠及皮肤活组织... 详细信息

目的报道1例芬兰型家族性淀粉样变性患者的临床、病理、电生理和遗传学特点。方法对2.2.年6月就诊于首都医科大学附属北京天坛医院的1例芬兰型家族性淀粉样变性患者的临床特征进行总结,并对患者进行电生理检查,唇腺、直肠及皮肤活组织检查和基因测序分析。结果患者为60岁女性,50岁出现左侧面瘫,55岁出现右侧面瘫及口唇增厚,56岁出现言语不清、吞咽困难。体检可见相应脑神经受累体征及皮肤菲薄光滑等改变。裂隙灯显示角膜呈晶格样改变。电生理结果显示双侧腕管综合征;双侧视觉诱发电位P100波形分化欠佳,潜伏期延长,双侧C7以上、T12.上至双顶皮质深感觉传导通路障碍。3.部位的活组织检查均提示腺体周围基底膜及血管壁存在淀粉样物质沉积。基因测序结果显示,患者凝溶胶蛋白(GSN)基因的4号外显子存在c.654G>T杂合突变,相应蛋白187位点由天冬氨酸变为酪氨酸(p.D187Y)。结论芬兰型家族性淀粉样变性患者以进行性多脑神经病变为突出表现,同时伴有晶格样角膜病变和皮肤改变,可伴视神经及深感觉上行传导通路电生理异常,并存在GSN基因D187Y突变。

关键词：淀粉样神经病,家族性突变角膜营养不良,遗传性活组织检查高通量核苷酸测序

一个Liddle综合征新SCNN1B基因移码突变的鉴定

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Science Bulletin 2023年第4期68卷 383-387,M0003页

作者：曲艺卢伊婷张迪刘欣畅范鹏陈洁欣张涵波杨坤璂田涛周怡张琼钰张钰王林平黄卓刘亚欣胡爱华周宪梁 Department of Cardiology Fuwai HospitalNational Center for Cardiovascular DiseasesChinese Academy of Medical Sciences and Peking Union Medical CollegeBeijing 100037China State Key Laboratory of Natural and Biomimetic Drugs Department of Molecular and Cellular PharmacologySchool of Pharmaceutical SciencesPeking University Health Science CenterBeijing 100191China Institute of Laboratory Animal Sciences Comparative Medicine CenterChinese Academy of Medical Sciences and Peking Union Medical CollegeBeijing 100021China Emergency and Critical Care center Fuwai HospitalNational Center for Cardiovascular DiseasesChinese Academy of Medical Sciences and Peking Union Medical CollegeBeijing 100037China Department of Non-Communicable Disease Management Beijing Children’s HospitalCapital Medical UniversityNational Center for Children’s HealthBeijing 100045China Hypertension center Fuwai HospitalNational Center for Cardiovascular DiseasesChinese Academy of Medical Sciences and Peking Union Medical CollegeBeijing 100037China

Liddle综合征是一种由编码肾小管上皮细胞钠离子通道(ENa Cs)的SCNN1A、SCNN1B及SCNN1G基因突变引起的罕见单基因遗传性高血压,基于基因检测技术进行确诊并及时给予对应治疗可显著改善患者预后.由于发病率低,相关突变位点报道少,目前Lid... 详细信息

Liddle综合征是一种由编码肾小管上皮细胞钠离子通道(ENa Cs)的SCNN1A、SCNN1B及SCNN1G基因突变引起的罕见单基因遗传性高血压,基于基因检测技术进行确诊并及时给予对应治疗可显著改善患者预后.由于发病率低,相关突变位点报道少,目前Liddle综合征突变位点谱仍不完善.本研究通过对野生型及突变型ENa Cs重组非洲爪蟾卵母细胞进行膜片钳检测,首次确定了SCNN1B基因中一个移码突变c.1691_1693.elins G对Liddle综合征的致病性.进一步研究结果表明,突变型非洲爪蟾卵母细胞ENa Cs电流显著增加,这与已知的Liddle综合征发病机制一致.此外,本研究通过对该家系中接受阿米洛利/氢氯噻嗪复方制剂治疗的7名患者进行为期12.月的观察研究,发现所有患者血压控制理想,血清钾离子、血浆肾素及醛固酮水平正常,无心血管事件及严重药物不良反应发生.本研究有助于扩大Liddle综合征的基因诊断谱,并为该病的治疗方案提供参考.

关键词：血浆肾素阿米洛利醛固酮水平非洲爪蟾卵母细胞移码突变基因检测技术心血管事件基因诊断

基于UPLC技术解析金萱×紫娟F1分离群体代谢物的遗传变异

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茶叶科学 2022年第1期42卷 29-40页

作者：刘庆帅璩馥榕魏梦园钟红王熠陈亮金基强中国农业科学院茶叶研究所/国家茶树改良中心/农业农村部茶树生物学与资源利用重点实验室浙江杭州310008 中国农业科学院研究生院北京100081

为创制高甲基化儿茶素茶树新种质,以金萱和紫娟为亲本构建了一个F_(1)代分离群体,并通过建立一种超高效液相色谱法,对群体内各单株的代谢物含量及其遗传变异情况进行分析。研究发现,群体中多数代谢物含量分布符合正态偏陡分布,变异系数... 详细信息

为创制高甲基化儿茶素茶树新种质,以金萱和紫娟为亲本构建了一个F_(1)代分离群体,并通过建立一种超高效液相色谱法,对群体内各单株的代谢物含量及其遗传变异情况进行分析。研究发现,群体中多数代谢物含量分布符合正态偏陡分布,变异系数在2.%~3.%,且均存在一定数量的超亲个体,并从中筛选出9份高甲基化儿茶素等富含功能成分的优异单株。同时,结果显示多数代谢物含量在秋季高于春季,且儿茶素总量随叶片紫化程度加深而减少。本研究建立的超高效液相色谱法,为今后鉴定和筛选优异茶树种质资源和育种材料提供了一种更高效的测定方法;对金萱×紫娟F_(1)分离群体生化组分的遗传变异研究也为今后高功能成分育种和通过正向遗传学发掘调控相关性状的基因提供了重要基础。

关键词：茶树超高效液相色谱法 F 分离群体代谢物遗传变异

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新时代背景下矿产资源统计现状与建议

中国矿业 2022年第8期31卷 20-25页

作者：曲俊利孟刚苗琦陈敏王天元叶晗文雅萍自然资源部油气资源战略研究中心北京100860

矿产资源统计是掌控资源家底,维护国家能源安全的根本保障,是了解矿业权市场变化,掌握资源产供销渠道,更好发挥市场配置资源的重要基础。在落实生态文明体制改革总体方案的新时代背景下,围绕自然资源资产产权制度改革、自然资源资产有... 详细信息

矿产资源统计是掌控资源家底,维护国家能源安全的根本保障,是了解矿业权市场变化,掌握资源产供销渠道,更好发挥市场配置资源的重要基础。在落实生态文明体制改革总体方案的新时代背景下,围绕自然资源资产产权制度改革、自然资源资产有偿使用、国家治理体系和治理能力现代化等具体实践要求,梳理和总结了当前矿产资源统计的现状和存在的问题。结合自然资源部“两统一”职责,提出了完善矿产资源统计工作的建议,一是构建科学完整的矿产资源统计制度体系;二是建立统一的矿产资源统计指标和统计渠道;三是建立全链条管理的统计数据库;四是加快统计人才队伍建设,加强统计质量监控;五是强化矿产资源统计数据应用,服务国家高质量发展要求。

关键词：矿产资源统计统计监督质量监控信息化

Genome sequence and evolution of Betula platyphylla

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Horticulture research 2021年第1期8卷 496-507页

作者： Su chen Yucheng Wang Lili Yu Tao Zheng Sui Wang Zhen Yue Jing Jiang Sapna Kumari Chunfang Zheng Haibao Tang Jun Li Yuqi Li Jiongjiong chen Wenbo Zhang Hanhui Kuang Jon SRobertson Patrick XZhao Huiyu Li Shengqiang Shu Yordan SYordanov Haijiao Huang David MGoodstein Ying Gai Qi Qi JiuMeng Min ChunYan Xu SongBo Wang Guan-Zheng {3. Andrew HPaterson David Sankoff Hairong Wei Guifeng Liu Chuanping yang State Key Laboratory of Tree Genetics and Breeding(Northeast Forestry University) HarbinChina BGI-Qingdao BGI-ShenzhenQingdaoChina BGI-Tech BGI-ShenzhenShenzhenChina College of Forest Resources and Environmental Science Institute of Computing and CybersystemsMichigan Technological UniversityHoughtonMIUSA Department of Mathematics and Statistics University of OttawaOttawaONCanada center for Genomics and Biotechnology Fujian Agriculture and Forestry UniversityFuzhouFujian ProvinceChina School of Plant Sciences University of ArizonaTucsonAZUSA Noble research Institute 2510 Sam Noble ParkwayArdmoreOKUSA Department of Vegetable Crops College of Horticulture and ForestryHuazhong Agricultural UniversityWuhanP.R.China Plant Genome Mapping Laboratory University of GeorgiaAthensGeorgia US Department of Energy Joint Genome Institute Walnut CreekCAUSA Department of Biological Sciences Eastern Illinois UniversityCharlestonILUSA College of Biological Sciences and Biotechnology Beijing Forestry UniversityBeijingP.R.China

Betula L.(birch)is a pioneer hardwood tree species with ecological,economic,and evolutionary importance in the Northern *** sequenced the Betula platyphylla genome and assembled the sequences into 14 *** Betula genome lacks evidence of recent whole-genome {3.plication and has the same paleoploidy level as Vitis vinifera and Prunus *** analysis of lignin pathway genes coupled with tissue-specific expression patterns provided clues for understanding the formation of higher ratios of syringyl to guaiacyl lignin observed in Betula *** transcriptome analysis of leaf tissues under a time-series cold stress experiment revealed the presence of the MEKK1–MKK2.MPK4 cascade and six additional mitogen-activated protein kinases that can be linked to a gene regulatory network involving many transcription factors and cold tolerance *** genomic and transcriptome analyses provide insight into the structures,features,and evolution of the *** *** chromosome-level genome and gene resources of *** obtained in this study will facilitate the identification of important and essential genes governing important traits of trees and genetic improvement of ***.

关键词： evolution platyphylla insight

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肿瘤疫苗的研究进展

国际免疫学杂志 2018年第6期41卷 683-689页

作者：王艳梅陈坤曲春枫国家癌症中心\国家肿瘤临床医学研究中心\中国医学科学院北京协和医学院肿瘤医院分子肿瘤学国家重点实验室免疫室北京100021

肿瘤免疫治疗通过主动或被动免疫改善机体免疫系统的应答状态,使机体获得有效的抗肿瘤免疫效应。肿瘤疫苗通过主动免疫而放大肿瘤患者体内抗肿瘤免疫反应,在肿瘤免疫治疗中具有重要的地位与作用。肿瘤疫苗的主要类型包括来自肿瘤抗原的... 详细信息

肿瘤免疫治疗通过主动或被动免疫改善机体免疫系统的应答状态,使机体获得有效的抗肿瘤免疫效应。肿瘤疫苗通过主动免疫而放大肿瘤患者体内抗肿瘤免疫反应,在肿瘤免疫治疗中具有重要的地位与作用。肿瘤疫苗的主要类型包括来自肿瘤抗原的多肽疫苗,病毒或细菌载体疫苗,核酸疫苗,树突状细胞(dendritic cell,DC)疫苗等。在多个临床试验中,由于抗原选择不佳及抑制性肿瘤微环境等因素,使现有肿瘤疫苗未能取得令人满意的临床效果。体细胞突变产生的肿瘤新抗原因未经历胸腺选择过程而具有高免疫原性,可诱导机体产生有效免疫反应,是肿瘤疫苗制备的优选。免疫检查点抑制剂的应用使机体免疫系统的抗肿瘤免疫应答恢复“正常化”。随着测序技术与生物信息学的发展,预测突变产生的新抗原及制备个体化疫苗的设想得以实现,个体化疫苗联合免疫检查点抑制剂或其它免疫治疗有可能产生更好的临床效果。

关键词：肿瘤疫苗肿瘤抗原个体化疫苗肿瘤微环境

A comparison study of prevalence,awareness,treatment and control rates of hypertension and associated factors among adults in china and the United States based on national survey data

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Global Health Journal 2023年第1期7卷 24-33页

作者： Xiaomin Sun Xinguang chen Zumin Shi Alice Fang Yan Zhongying Li Shiqi chen Bingtong Zhao Wen Peng Xi Li Mei Zhang Limin Wang Jing Wu Youfa Wang Global Health Institute School of Public HealthXi'an Jiaotong University Health Science CenterXi'an Jiaotong UniversityXi'anShaanxi 710061China Human Nutrition Department College of Health SciencesQU Health Qatar UniversityDoha 2713Qatar Department of research Patient Care Service Stanford Health CarePalo AltoCA 94305USA Nutrition and Health Promotion center Department of Public HealthMedical CollegeQinghai UniversityXiningQinghai 810061China Department of Geriatrics The Second Affiliated Hospital Xi'an Jiaotong University Health Science CenterXi'an Jiaotong UniversityXi'anShaanxi 710061China national center for Chronic and Noncommunicable Disease Control and Prevention Chinese Center for Disease Control and PreventionBeijing 100050China

Objective:This study compared the prevalence,awareness,treatment and control of hypertension and associated factors in china and the United States(US).Methods:Adult data from nationally representative samples were derived from the Chronic Disease and Risk Factors Surveillance in {{3.0 and {{3.3.in china and the national Health and Nutrition Examination Survey in {{3.0 and {{3.3.in the *** logistic and Poisson regression analysis were conducted to assess associations of the four outcomes with body weight status and behavioral ***:Age-standardized prevalence rates of hypertension was 3..7%(95%confidence interval[CI]:3..4%to 3..1%)in {{3.0 and {3..8%(95%CI:{3..4%to 3..{3.)in {{3.3.in china,and 3..3.(95%CI:3..6%to 3..1%)in {{3.0 and 3..9%(95%CI:3..0%to 3..7%)in {{3.3.in the *** hypertensive participants,the age-standardized rates of treatment were 18.4%(95%CI:17.9%to 1&9%)in {{3.0 and {3..8%(95%CI:{3..1%to {3..6%)in {{3.3.in china and 54.5%(95%CI:50.3.to 5&7%)in {{3.0 and 50.9%(95%CI:46.5%to 55.3.)in {{3.3.in the US;the age-standardized hypertension control rates were 3.{3.(95%CI:3.0%to 3.5%)and 5.7%(95%CI:5.3.to 6.0%)in {{3.0 and {{3.3.in china and 50.6%(95%CI:46.{3.to 55.0%)and 55.3.(95%CI:50.3.to 60.3.)in the *** was significantly associated with prevalence,awareness and control rates in both *** from the US,obesity was negatively associated with hypertension control in ***:Hypertension prevalence in china is similar to that in the US,but the control rate in china was significantly *** was a critical risk factor for poor hypertension control in china.

关键词： Hypertension International comparison Treatment Obesity Risk factors

Antidepressant-like Effects of Ginsenoside Rg1 in the Chronic Restraint Stress-induced Rat Model

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Digital Chinese Medicine 2019年第4期2卷 207-218页

作者： JIANG Ning LV Jing-Wei WANG Hai-Xia HUANG Hong WANG Qiong chen Shan-Guang qu Li-Na Alberto Carlos Pires Dias LIU Xin-Min research center for Pharmacology and Toxicology Institute of Medicinal Plant Development(IMPLAD)Chinese Academy of Medical Sciences and Peking Union Medical CollegeBeijing 100193China Affiliated TCM Hospital/School of Pharmacy/Sino-Portugal TCM International Cooperation center Southwest Medical UniversityLuzhou 646000China State Key Laboratory of Space Medicine Fundamentals and Applications China Astronaut Research and Training CenterBeijing 100194China Department of Biology SLNO-PT Research Center for Medicinal and Food Plant ResourcesUniversity of MinhoBraga 4704-553Portugal

Objective To investigate the ameliorating effect of ginsenoside Rg1 on the depression-like behaviors induced by chronic restraint stress(CRS)in rats and the underlying *** Forty male Wistar rats were divided into 4 groups according to their baseline sucrose preference:control group,model group,and Rg1-treated groups(5 and 10 mg/kg).Except for control group,the groups were exposed to CRS(6 h/day)for 2. *** drugs were intraperitoneally administered once daily to CRS rats after restraint stress for 14 *** behavioral tests were carried out via the open field test(OFT),sucrose preference test(SPT),forced swim test(FST),and the Morris water maze(MWM)4 weeks following CRS *** levels of serum corticosterone(CORT)and the activities of the antioxidant defense biomarkers(SOD,MDA and GSH-x)in the prefrontal cortex(PFC)were analyzed using commercial ELISA *** levels of the neurotransmitter(5-HT,5-HIAA,Ach,NE,GABA and Glu)in the PFC were measured by ultra-performance li{3.id chromatography tandem mass *** protein expression of BDNF,Trkb,Bax and Bcl-2.in the PFC was detected by western *** Owing to increased sucrose consumption in the SPT,decreased immobility time in the FST,and the improved cognitive performance in MWM,chronic treatment with Ginsenoside Rg1 was found to significantly attenuate depressionlike behaviors(anhedonia,behavioral despair and poor spatial memory)in ***,CRS exposure caused evident alterations in the levels of the neurotransmitters(5-HT,5-HIAA,Ach,GABA and Glu)and the activities of the antioxidant defense biomarkers(SOD,MDA and GSH-x)in the PFC and the levels of corticosterone in ***,Ginsenoside Rg1 treatment could restore these levels to normal ***,Ginsenoside Rg1 treatment significantly reverted the decreased expression of BDNF,Trkb and Bcl-2.and the increased expression of Bax in the PFC of CRS *** Ginsenoside Rg1 could attenuate the CRS-indu

关键词： Ginsenosides Rg1 Depression Chronic restraint stress Neurotransmitter Oxidative stress BDNF

云南哀牢山亚热带常绿阔叶林土壤CH_(4)通量特征

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生态环境学报 2022年第5期31卷 949-960页

作者：陈丽娟周文君易艳芸宋清海张一平梁乃申鲁志云温韩东 MOHD Zeeshan 沙丽清中国科学院西双版纳热带植物园热带森林生态学重点实验室云南勐腊666303 中国科学院核心植物园植物生态中心云南勐腊666303 中国科学院哀牢山亚热带森林生态系统研究站云南景东676209 日本国立环境研究所筑波305-8506 中国科学院大学北京100049 中国科学院西双版纳热带植物园公共技术中心云南勐腊666303

甲烷(CH_(4))是仅次于二氧化碳(CO_(2.)的重要温室气体,对全球气候变化有重要的反馈作用。亚热带森林土壤是全球陆地生态系统重要的CH_(4)汇,但因在亚热带的观测较少,致使模型估算得出的结果具有不确定性,因此需对土壤CH_(4)通量进行现... 详细信息

甲烷(CH_(4))是仅次于二氧化碳(CO_(2.)的重要温室气体,对全球气候变化有重要的反馈作用。亚热带森林土壤是全球陆地生态系统重要的CH_(4)汇,但因在亚热带的观测较少,致使模型估算得出的结果具有不确定性,因此需对土壤CH_(4)通量进行现场观测和实验,以便准确估计亚热带森林土壤CH_(4)通量及其对该生态系统碳汇能力的贡献。采用大型多点自动开闭箱式自动连续测定法在哀牢山亚热带常绿阔叶林开展土壤CH_(4)通量、气温(t_(a))、地表温度(t_(0))、土壤5 cm温度(t_(5))、降雨量(P)和土壤含水量(C_(sw))进行连续1年定位观测。结果表明,(1)云南哀牢山亚热带常绿阔叶林土壤为CH_(4)的汇,年通量为(−11.79±0.001)kg·hm^(-2.·a^(-1),年均速率为(−0.13.0.05)mg·m^(-2.·h^(-1),呈现出显著的季节动态,表现为干季土壤CH_(4)的吸收通量[(−0.17±0.06)mg·m^(-2.·h^(-1)]显著高于雨季[(−0.10±0.03.mg·m^(-2.·h^(-1)](P2.土壤CH_(4)通量与地表温度(r^(2.=0.2.2.,P1)、土壤5 cm温度(r^(2.=0.1948,P1)和气温(r^(2.=0.0983.P1)呈显著相关关系,但土壤CH_(4)通量与土壤5 cm温度的相关关系在12.3.℃由正相关转为负相关。(3.土壤CH_(4)通量对土壤含水量的变化响应较温度敏感,土壤含水量可解释其90.3.%的相关性(P1),单因素和双因子关系模型进一步证明土壤含水量是调节哀牢山亚热带常绿阔叶林土壤CH_(4)通量的主导因子。(4)在2.年和100年时间尺度上,CH_(4)通量的全球增温潜势(global warming potential,GWP)分别可以抵消土壤CO_(2.排放产生增温潜势的2.2.和0.7%,可以增加该生态系统碳汇的10.6%和3.5%。为此,在未来降水格局变化的情景下,土壤含水量可用于预测哀牢山亚热带常绿阔叶林土壤CH_(4)通量的变化和生态系统CH_(4)汇的强度,进而反映其对该森林生态系统碳汇能力的贡献。

关键词：亚热带森林土壤 CH_(4)通量土壤含水量温度敏感性(Q_(10)) 全球增温潜势