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Patient Safety in the Use of Mechanical Restraints: Regulatory Compliance among Hospitals in the City of Buenos Aires and Proposal for Its Improvement
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作者 Martín Javier Mazzoglio y Nabar Sergio Giordano +3 位作者 Edgardo Knopoff Lorena Onofrio Oscar Agustín Porta Romina Rodríguez 《Open Journal of Emergency Medicine》 2024年第2期33-39,共7页
Introduction: Mechanical or physical restraint is an exceptional therapeutic resource to immobilize a subject and thus guarantee the safety of the patient and/or third parties in the face of high-risk behaviors, but i... Introduction: Mechanical or physical restraint is an exceptional therapeutic resource to immobilize a subject and thus guarantee the safety of the patient and/or third parties in the face of high-risk behaviors, but it entails multiple crossings (bioethical, philosophical, medical, psychological, legal). Framed in the so-called “safety culture” developed by the WHO, based on the Protocol for its implementation of the CABA and attentive to its frequent use in CABA by different hospital services (medical clinic, geriatrics, intensive care and medical guards) we consider it necessary its study in terms of compliance with the risks it entails and its management. Objectives: Identify regulatory compliance with the GCABA Mechanical restraint (MR) Protocol from a patient safety perspective, as well as describe the clinical and medicolegal aspects, and propose the usefulness of a tool for its management and control. Methodology: Observational, descriptive, transversal and prospective work through the analysis of Clinical Records with indication of MR using a rubric-type form. 177 cases were analyzed between September-November 2023 from three hospitals of the Government of the City of Buenos Aires, statistical parameters were applied and graphs were made. Results: Only 12.99% complied with the Protocol. In the mental health specialized hospital compliance was almost 5 times greater than in the general one, and in the emergency services compliance was 12 times greater than in Inpatient services. We found that the start or end time of MR was not recorded and only 43% described the causes/justifications for the indication (mostly in Emergency and Specialized hospitals), with the MR average time being shorter in Emergency. Conclusions: Only 1.3 out of 10 patients reliably completed the Protocol and it was mostly in the mental health specialized hospital and the emergency services. The results show non-compliance behavior in the application and management of the risk that the use of mechanical restraints entails, being causes for criminal litigation. We consider that the checklists are useful to complete the Protocol and thus provide security to patients and professionals. 展开更多
关键词 Mechanical Containment Patient Safety Injuries in Custody Buenos aires City Check List
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益气解毒复方对实验性自身免疫性重症肌无力大鼠胸腺中Aire及ROR-γt/Foxp3相关炎症因子表达的影响 被引量:1
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作者 张亚洲 罗杰 +3 位作者 蔡友德 郭青 李衬 何前松 《世界科学技术-中医药现代化》 CSCD 北大核心 2023年第10期3286-3292,共7页
目的研究益气解毒复方对实验性自身免疫性重症肌无力(Experimental autoimmune myasthenia gravis,EAMG)大鼠胸腺中自身免疫调节因子(Aire)及转录因子维甲酸相关核孤儿受体(ROR-γt)/叉头翼状螺旋转录因子3(Foxp3)相关炎症因子表达的影... 目的研究益气解毒复方对实验性自身免疫性重症肌无力(Experimental autoimmune myasthenia gravis,EAMG)大鼠胸腺中自身免疫调节因子(Aire)及转录因子维甲酸相关核孤儿受体(ROR-γt)/叉头翼状螺旋转录因子3(Foxp3)相关炎症因子表达的影响。方法通过免疫诱导注射鼠源性AchR-α亚基97-116肽段复制EAMG模型,分为正常组、模型组、阳性对照组(强的松)及益气解毒复方高、中、低剂量组,每组10只。观察大鼠行为学及Lennon评分,检测血清转化生长因子-β1(TGF-β1)、白细胞介素-6(IL-6)水平,Western blot检测EAMG大鼠胸腺组织中Aire和Foxp3的表达,RT-PCR检测各组大鼠胸腺组织中RORγt的表达情况。结果与治疗前相比,各药物组Lennon分级评分显著降低;与强的松组相比,益气解毒复方各剂量组Lennon评分无明显差异(P>0.05)。RT-PCR结果,模型组胸腺内RORγt mRNA相对表达量明显高于正常组(P<0.05),各药物组胸腺中RORγt mRNA相对表达量明显低于模型组(P<0.05)。Western blot结果,与正常组比较,模型组Aire和Foxp3蛋白的表达量均显著降低(P<0.05);与模型组比较,各药物组大鼠胸腺中Aire和Foxp3蛋白的表达量均显著升高(P<0.01)。ELISA结果,模型组大鼠血清IL-6含量明显高于正常组(P<0.01),而TGF-β1含量明显低于正常组(P<0.01);给药后,各药物组IL-6含量明显降低,TGF-β1含量明显升高(P<0.01)。结论益气解毒复方能改善EAMG大鼠肌无力症状,其作用机制可能通过上调Aire蛋白表达,调节免疫炎症反应,影响Th17/Treg分化,从而调控ROR-γt/Foxp3免疫平衡发挥调节自身免疫反应的作用,可能是其治疗MG的作用机制之一。 展开更多
关键词 益气解毒复方 重症肌无力 aire ROR-γt/Foxp3 Th17/Treg
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叉头盒N1(FoxN1)、 p63和自身免疫调节因子(AIRE)对胸腺增龄性萎缩进程的影响研究进展
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作者 王嘉艺 李俊 姚新生 《细胞与分子免疫学杂志》 CAS CSCD 北大核心 2023年第1期88-94,共7页
随着年龄增长而发生的胸腺萎缩会导致增龄性疾病、自身免疫性疾病、肿瘤及机会性感染等的发生。叉头盒N1(FoxN1)、p63和自身免疫调节因子(AIRE)等转录因子可以通过影响胸腺上皮细胞(TEC)的增殖、发育和分化过程,进而影响胸腺增龄性萎缩... 随着年龄增长而发生的胸腺萎缩会导致增龄性疾病、自身免疫性疾病、肿瘤及机会性感染等的发生。叉头盒N1(FoxN1)、p63和自身免疫调节因子(AIRE)等转录因子可以通过影响胸腺上皮细胞(TEC)的增殖、发育和分化过程,进而影响胸腺增龄性萎缩进程与T细胞的分化、发育和输出。我们总结了FoxN1、p63和AIRE转录因子的上下游靶点、影响其功能的微小RNA(miRNA)及相关信号通路参与调控胸腺增龄性萎缩的机制及新的治疗方案。 展开更多
关键词 增龄性 胸腺萎缩 叉头盒N1(FoxN1) P63 自身免疫调节因子(aire) T细胞 微小RNA(miRNA) 综述
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雷米普利在急性心肌梗死中的应用——由AIRE和AIREX研究谈起 被引量:1
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作者 吴学思 《中国医药导刊》 2000年第2期10-13,共4页
80年代末期,急性心肌梗死(AMI)应用溶栓药物、阿司匹林、β-受体阻滞剂治疗,获得很大成绩,存活率明显增加。但仍有相当一部分病人出现严重心力衰竭、再发心肌梗死和死亡。西方国家全面开展了对AMI患者应用血管紧张素转换酶(ACE)抑制剂... 80年代末期,急性心肌梗死(AMI)应用溶栓药物、阿司匹林、β-受体阻滞剂治疗,获得很大成绩,存活率明显增加。但仍有相当一部分病人出现严重心力衰竭、再发心肌梗死和死亡。西方国家全面开展了对AMI患者应用血管紧张素转换酶(ACE)抑制剂的随机、双盲、安慰剂对照的多中心临床试验,评价其作用。其中开始于1989年的AIRE和AIREX试验是应用雷米普利(Ramipril)或安慰剂治疗急性心肌梗死后心力衰竭的随访研究。 展开更多
关键词 急性心肌梗死 雷米普利 aire试验 aireX试验
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自身免疫调节因子(AIRE)在免疫调节中的研究现状及进展 被引量:5
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作者 王柔抒 庄志祥 《中国免疫学杂志》 CAS CSCD 北大核心 2015年第6期859-864,F0003,共7页
正常的免疫反应中存在着耐受性,而如果表现为对自身组织成份的无反应性,就称为自身耐受,自身耐受的产生则包括中枢耐受和外周耐受。正常情况下,动物的免疫系统只对自身以外的异物抗原发生反应,而对自身成分形成耐受,但由于某些原因对自... 正常的免疫反应中存在着耐受性,而如果表现为对自身组织成份的无反应性,就称为自身耐受,自身耐受的产生则包括中枢耐受和外周耐受。正常情况下,动物的免疫系统只对自身以外的异物抗原发生反应,而对自身成分形成耐受,但由于某些原因对自身构成成分引起免疫反应时,则称为自身免疫。 展开更多
关键词 免疫调节因子 自身耐受 中枢耐受 外周耐受 aire 自身免疫 无反应性 自身构成 基因突变 基因表达谱
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自身免疫调节因子(AIRE)对TLRs表达的影响 被引量:1
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作者 杨巍 吴静 李一 《中国免疫学杂志》 CAS CSCD 北大核心 2008年第1期83-85,89,共4页
目的:探讨AIRE对外周抗原提呈细胞(APC)TLRs表达的影响。方法:①脂质体法将pEGFPC3-AIRE质粒转染RAW264.7细胞。②共聚焦荧光显微镜观察转染效果。③RT-PCR法检测转染后不同时间点(36、48、72、96小时)RAW264.7细胞上AIRE及TLR1-9的表... 目的:探讨AIRE对外周抗原提呈细胞(APC)TLRs表达的影响。方法:①脂质体法将pEGFPC3-AIRE质粒转染RAW264.7细胞。②共聚焦荧光显微镜观察转染效果。③RT-PCR法检测转染后不同时间点(36、48、72、96小时)RAW264.7细胞上AIRE及TLR1-9的表达水平。结果:①成功将质粒转入RAW264.7细胞,转染效率约为60%~70%。②建立了AIRE转染的RAW264.7细胞,确定转染后72小时为转染最佳时间点。③AIRE转染后72小时,RAW264.7细胞上TLR1、4、5、9表达升高,TLR3、7、8表达降低,转染后96小时,TLR2、6表达升高。结论:AIRE可能通过调控APC上TLRs的表达,调节机体的免疫应答。通过对不同的TLRs的影响,来维持对病原微生物有效应答的同时,维持对自身组织的耐受状态。 展开更多
关键词 aire TLR 免疫耐受
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AIRE的研究进展
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作者 阴晴 邵启祥 《中国现代医学杂志》 CAS CSCD 北大核心 2009年第1期81-84,共4页
AIRE是一种自身免疫性调节因子,由于它可能在中枢和外周免疫应答中起非常重要的调节作用,近年来受到越来越多的关注。本文就AIRE的结构和功能、AIRE基因的表达及其与自身免疫性疾病的关系等研究进展作一简单综述。
关键词 aire 自身免疫性疾病
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小鼠Aire逆转录病毒表达载体的构建及表达
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作者 李娟 张君 张毓 《天津医科大学学报》 2011年第4期443-446,463,共5页
目的:将小鼠Aire基因定向连入MigR1-GFP质粒,得到长期稳定的Aire逆转录病毒表达载体,收集逆转录病毒上清感染胸腺基质细胞,为研究Aire在胸腺细胞终末分化中的作用奠定基础。方法:以小鼠胸腺基质细胞的cDNA为模板扩增得到Aire的ORF片段;... 目的:将小鼠Aire基因定向连入MigR1-GFP质粒,得到长期稳定的Aire逆转录病毒表达载体,收集逆转录病毒上清感染胸腺基质细胞,为研究Aire在胸腺细胞终末分化中的作用奠定基础。方法:以小鼠胸腺基质细胞的cDNA为模板扩增得到Aire的ORF片段;将该片段连接入MigR1-GFP质粒;将构建成功的Aire-MigR1-GFP质粒转染293T细胞,收集逆转录病毒上清;使用逆转录病毒上清感染胸腺基质细胞系MTEC9,流式细胞仪检测感染效率,Western blot确定Aire蛋白的表达。结果:(1)成功得到Aire的ORF片段。(2)构建的Aire逆转录病毒表达质粒能够成功表达Aire蛋白。(3)逆转录病毒上清成功感染胸腺基质细胞系MTEC9。结论:成功构建了小鼠Aire逆转录病毒表达载体,并实现了Aire蛋白在胸腺基质细胞系中的强制性表达。 展开更多
关键词 小鼠 aire MigR1 胸腺基质细胞
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AIRE调节免疫耐受的机制 被引量:1
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作者 都伟 梅林 胡玉珍 《细胞与分子免疫学杂志》 CAS CSCD 北大核心 2010年第11期1158-1160,共3页
关键词 自身免疫调节因子(aire) 免疫耐受 自身免疫病
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Questionnaire Research on Indoor Environment Quality i n China 被引量:3
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作者 朱能 刘俊杰 《Transactions of Tianjin University》 EI CAS 2003年第2期157-160,共4页
With 1 185 pi eces of questionnaire, it is found that in China, people take fresh air, odor, e tc., as well as indoor air temperature, humidity, as the most important indoor a ir parameters. It is also found that ther... With 1 185 pi eces of questionnaire, it is found that in China, people take fresh air, odor, e tc., as well as indoor air temperature, humidity, as the most important indoor a ir parameters. It is also found that there is a significant sensitivity differen ce in indoor environment between southerners and northerners in China. People fr om different regions have different demands for their working and living environ ment. Therefore, as a good design of air conditioning system, it is strongly rec ommended that the different demands of people from different regions should be t aken into consideration. 展开更多
关键词 indoor air environment QUESTIONNaire thermal comfort
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AIRE延伸试验
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作者 HallAS MurrayGD +2 位作者 BallSG 曾冲 朱树雄 《岭南心血管病杂志》 2003年第2期79-79,共1页
关键词 心肌梗死 安慰剂 aire 雷米普利
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Macrobioerosion and Microbioerosion in Marine Molluscan Shells from Holocene and Modern Beaches (39°-40°S, South of Buenos Aires Province, Argentina) 被引量:1
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作者 Melisa P. CHARO Jose L. CAVALLOTTO Guillermo ACENOLAZA 《Acta Geologica Sinica(English Edition)》 SCIE CAS CSCD 2017年第4期1215-1230,共16页
The marine sediments of the area of Verde Peninsula - Jabali Island (39°28'S/62°19%V-40°28' S/62°11'W) Holocene in age (3-2 ky), and modern beaches contain a significant amount of bioeroded ... The marine sediments of the area of Verde Peninsula - Jabali Island (39°28'S/62°19%V-40°28' S/62°11'W) Holocene in age (3-2 ky), and modern beaches contain a significant amount of bioeroded mollusc shells. Fifteen sites were analyzed, in which 20.11% of the mollusc shells (2168 valves) presented bioerosion traces, in 54 species (30 bivalves and 24 gastropods). Fourteen ichnogenera were reported: Entobia, Maeandropolydora, Iramena, Caulostrepsis, Pennatichnus, Pinaceocladichnus, Trypanites, and Gastrochaenolites (Domichnia), Gnathichnus and Radulichnus (Pascichnia), Finichnus and Centrichnus (Fixichnia), Oichnus (Praedicnia) (macrobioerosion), y Semidendrina (microbioerosion), the latter is first reported in mollusc shells in Argentina. Eleven ichnospecies were identified Finichnus peristroma, Maeandropolydora sulcans, Gnathichnus pentax, Pinaceocladichnus onubensis, Caulostrepsis taeniola, Centrichnus eccentricus, Radulichnus inopinatus, Oichnus simplex, Oichnus paraboloides, Oichnus gradatus, and Gastrochaenolites torpedo (lithic remains). The dominant ichnogenera in the Holocene deposits are Iramena, Entobia and Oichnus. The same ichnogenera are constant with different abundance in the modern beaches, and increasing representation of Pinaceocladichnus and Pennatichnus. The dominant ichnofacies in the Holocene deposits is Trypanites, revealing a benthonic marine community composed of cheilostome bryzoans, clionaid sponges, predator gastropods, regular echinoids, polychaete annelids, bivalves, thallophytas and fungi. Generally, the area was described as a sublittoral, low-energy, stable environment with high rate of oxygenation, and sandy bottoms, with rocky bottoms at Villalonga locality. 展开更多
关键词 molluscan BIOEROSION HOLOCENE south of Buenos aires Province
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自身免疫调节因子AIRE借助于ATF7ip-MBD1抑制复合体来诱导免疫耐受
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作者 李志清 刘书逊 《中国肿瘤生物治疗杂志》 CAS CSCD 北大核心 2014年第3期268-268,共1页
自身免疫调节因子AIRE(autoimmune regulator,AIRE)是一种转录因子。Aire发生变异可导致人类出现APECED(autoimmune polyendocrinopathy candidiasis ectodermal dystrophy)疾病,患者表现为多种内分泌器官的特异性自身免疫性破坏,... 自身免疫调节因子AIRE(autoimmune regulator,AIRE)是一种转录因子。Aire发生变异可导致人类出现APECED(autoimmune polyendocrinopathy candidiasis ectodermal dystrophy)疾病,患者表现为多种内分泌器官的特异性自身免疫性破坏,另外还有慢性皮肤黏膜念珠菌病和外胚层退行性病变等。AIRE-/-小鼠具有与APECED患者相似的自身免疫缺陷。2002年,Mark Anderson教授第一次明确了AIRE可以调节多种组织特异性抗原(TSA)在胸腺髓质上皮细胞(mTECs)的转录,从而启动阴性选择,维持T细胞的中枢耐受,解释了单一基因的突变却导致了多器官的免疫性损伤。 展开更多
关键词 自身免疫调节因子 免疫耐受 aire 复合体 皮肤黏膜念珠菌病 胸腺髓质上皮细胞 ANDERSON 内分泌器官
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Impact of Climate Change and Variability on Wheat and Corn Production in Buenos Aires, Argentina
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作者 Maria Pol Jacqueline Binyamin 《American Journal of Climate Change》 2014年第2期145-152,共8页
From the Global Historical Climate Network (GHCN-V3), monthly mean summer (DJF) temperature (1856-2012) and total precipitation (1861-2012) are analyzed in correlation with four climate modes and sunspot number to bet... From the Global Historical Climate Network (GHCN-V3), monthly mean summer (DJF) temperature (1856-2012) and total precipitation (1861-2012) are analyzed in correlation with four climate modes and sunspot number to better understand the role of teleconnections on Buenos Aires’ (Argentina) climate. A general increase in temperature and precipitation was observed. Temperature has increased by about 1.8°C and precipitation has increased by about 300 mm in the past century and a half. Indices of Arctic Oscillation (AO), Pacific North American (PNA), Antarctic Oscillation (AAO), and El Nino-Southern Oscillation (ENSO) are evaluated to study their effects on wheat and corn production and export. AO and PNA show strong relationships with precipitation and temperature received. AAO and ENSO show strong negative correlations with precipitation patterns and weak correlations with temperature. Sunspot Number shows a positive correlation with temperature. ENSO phases are strongly linked with the wheat and corn production and export;during El Nino Buenos Aires tends to experience extremely wet summer weather, causing soggy fields and extremely dry summer weather during La Nina causing drought. Both of these conditions result in reducing wheat and corn production and export. 展开更多
关键词 Climate Change of Buenos aires TELECONNECTIONS PNA AO SUNSPOT Number AAO ENSO WHEAT Corn Production and Export
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AIRE3000智能妇科消融仪治疗宫颈炎临床研究
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作者 李丽 《中国伤残医学》 2011年第9期39-40,共2页
目的:观察AIRE3000智能妇科消融仪治疗宫颈炎的疗效。方法:回顾性总结2007年10月-2010年5月我院应用AIRE3000智能妇科消融仪治疗宫颈炎共340例。结果:340例中痊愈334例,占98.2%,好转6例,占1.8%,总有效率100%。结论:该法疗... 目的:观察AIRE3000智能妇科消融仪治疗宫颈炎的疗效。方法:回顾性总结2007年10月-2010年5月我院应用AIRE3000智能妇科消融仪治疗宫颈炎共340例。结果:340例中痊愈334例,占98.2%,好转6例,占1.8%,总有效率100%。结论:该法疗效肯定,1次性治愈率高,是目前治疗宫颈炎最为理想的方法。 展开更多
关键词 aire3000智能妇科消融仪 宫颈炎 临床分析 疗效肯定
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Health Effects of Climate and Air Pollution in Buenos Aires: A First Time Series Analysis
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作者 Rosana Abrutzky Laura Dawidowski +1 位作者 Patricia Matus Patricia Romero Lankao 《Journal of Environmental Protection》 2012年第3期262-271,共10页
Background: The impact of urban air pollution and temperature changes over health is a growing concern for epidemiologists all over the world and particularly for developing countries where fewer studies have been per... Background: The impact of urban air pollution and temperature changes over health is a growing concern for epidemiologists all over the world and particularly for developing countries where fewer studies have been performed. Aim: The main goal of this paper is to analyze the short term effects of changes in temperature and atmospheric carbon monoxide on daily mortality in Buenos Aires, Argentina. Methods: We conducted a time series study focused on three age groups, gender, and cardiovascular and respiratory mortality, with lags up to four days and temporal variables as modifiers. Results: Temperature correlates positively with total mortality for summer months, with a RR = 1.0184 (95%, CI 1.0139, 1.0229) on the same day for each 1℃ increase. In winter this relationship reverses, as 1?C temperature increase exhibit a protective effect with a RR = 0.9894 (95%, CI 0.9864, 0.9924) at the 3 day lag. Carbon monoxide correlates always positively with mortality, with a RR = 1.0369 (95%, CI 1.0206, 1.0534) for each 1 ppm increase, on the previous day. Conclusions: Climate and pollution parameters measured in Buenos Aires City exhibit a correlation with health outcomes. The impacts of temperature and carbon monoxide vary with age and gender, being elderly the most susceptible subgroup. One day after an increase in CO of 1 ppm, about 4% extra deaths can be expected. The correlation found between increases in CO and mortality for greater lags may be ascribed to the role of CO as a chemical marker of urban air pollution, indicating the co-presence of other pollutants. 展开更多
关键词 Health Air POLLUTION CLIMATE VARIABILITY Carbon MONOXIDE EPIDEMIOLOGY
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Based on point merge for paired approach sequencing on closely spaced parallel runways
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作者 Laijun Wang Qi Ding Dongxuan Wei 《Journal of Traffic and Transportation Engineering(English Edition)》 EI CSCD 2023年第5期934-946,共13页
The paired approach is a kind of efficiency approach to closely spaced parallel runways(CSPRs),and the point merge system has the powerful interval management function,which is effective to realize the converge of tra... The paired approach is a kind of efficiency approach to closely spaced parallel runways(CSPRs),and the point merge system has the powerful interval management function,which is effective to realize the converge of traffic flows from different approach directions.In order to improve the operation efficiency of the airport terminal area,a model of paired approach sequencing based on point merge is proposed to investigate the problem of increasing the operation capacity of the closely spaced parallel runways.Taking the minimum average flight delay time as the objective,the flight distance on sequencing legs,wake turbulence separation and paired approach safety separation as constraints,the genetic algorithm is used to optimize the paired approach sequencing of arrival flights.Taking the closely parallel runways of Shanghai Hongqiao International Airport run south as an example,the point merge program is designed and the effect of model was analyzed.The results show that after optimization,the average delay time and average landing time are reduced by 40.6%and 51.8%respectively,the capacity of the closely spaced parallel runways are 1.1 times higher than the actual,the flight uptime rate can reach 100%.It is concluded that the proposed model is feasible,which can effectively reduce delay times and alleviate congestion in terminal areas. 展开更多
关键词 Air traffic management Sequence of arrival flights Point merge Closely spaced parallel runway Paired approach Genetic algorithm
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儿童自身免疫性多内分泌腺病综合征Ⅰ型2例并文献复习
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作者 郝会民 李杨世玉 +3 位作者 黄爱 刘晓景 曹冰燕 卫海燕 《安徽医药》 CAS 2024年第9期1871-1875,共5页
目的探讨儿童自身免疫性多内分泌腺病综合征Ⅰ型(APS-Ⅰ)临床特征及AIRE基因变异。方法回顾分析河南省儿童医院2019年5—10月收治的2例APS-Ⅰ病儿临床资料,并复习相关文献,对已报道中国儿童APS-Ⅰ临床表型及基因型进行总结。结果2例男性... 目的探讨儿童自身免疫性多内分泌腺病综合征Ⅰ型(APS-Ⅰ)临床特征及AIRE基因变异。方法回顾分析河南省儿童医院2019年5—10月收治的2例APS-Ⅰ病儿临床资料,并复习相关文献,对已报道中国儿童APS-Ⅰ临床表型及基因型进行总结。结果2例男性APS-Ⅰ病儿,病例1,12岁,3岁慢性念珠菌感染,12岁重度贫血;病例2,15岁,7岁甲状旁腺功能减退,8岁慢性念珠菌感染,15岁肾上腺皮质功能减退症和重度贫血。高通量测序提示AIRE基因变异,病例1为c.44G>A(p.R15H)和c.1036C>T(p.Q346*)杂合突变,病例2为c.38T>C(p.L13P)和c.1400+2T>C杂合突变,其中c.1036C>T(p.Q346*)和c.1400+2T>C为HGMD及ClinVar数据库未报道过的变异位点,经美国人类遗传学和基因组学医学学会(ACMG)指南评估分别为疑似致病及致病变异。2例病儿给予药物治疗后临床症状缓解。分别检索PubMed、万方和CNKI数据库,共检索到22例确诊为APS-Ⅰ中国病儿,包括本研究2例,共24例,其中15例基因诊断,有14种基因变异,无热点变异,9例临床诊断。结论新的变异位点扩大了AIRE基因变异谱,APS-Ⅰ临床表现多样,且出现时间跨度大,相关抗体及AIRE基因检测有助于疾病早期诊断,多学科诊疗提供个体化的治疗策略。 展开更多
关键词 多内分泌腺疾病 自身免疫性 aire基因 念珠菌病 慢性黏膜皮肤 甲状旁腺功能减退症 肾上腺皮质功能减退症
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AIRE基因突变导致自身免疫性多发内分泌腺体综合征Ⅰ型一例 被引量:3
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作者 杨俊朋 郑瑞芝 +2 位作者 刘宏霞 袁慧娟 赵志刚 《中华内科杂志》 CAS CSCD 北大核心 2016年第6期474-475,共2页
患者女,61岁,农民.2012年8月因四肢无力,胸闷就诊当地医院,胸部CT示纵隔右上占位,诊断为"胸腺瘤".行手术切除右上纵隔肿物,肿物大小约8.0 cm× 5.5 cm×3.2 cm,间质出血伴骨化及钙化.术后病理诊断为"B1型胸腺瘤",免疫组化... 患者女,61岁,农民.2012年8月因四肢无力,胸闷就诊当地医院,胸部CT示纵隔右上占位,诊断为"胸腺瘤".行手术切除右上纵隔肿物,肿物大小约8.0 cm× 5.5 cm×3.2 cm,间质出血伴骨化及钙化.术后病理诊断为"B1型胸腺瘤",免疫组化示:淋巴细胞CD1a(+)、TdT(+)、CD3(+)、CD5(+)、CD20(+)及ki67(+)80%.术后逐渐出现纳差、恶心、呕吐,伴面部及双手色素沉着、四肢乏力、偶有抽搐.近2年,上述症状逐渐加重,未治疗.2014年4月无明显诱因出现腹痛,呈阵发性钝痛,程度剧烈,不伴他处放射,与体位无关,伴胸闷、恶心加重,于2014年6月15日急诊入河南省人民医院.入院体检:体温36.6℃,脉搏110次/min,呼吸25次/min,血压83/72 mmHg(1 mmHg =0.133 kPa). 展开更多
关键词 内分泌腺体 自身免疫性 基因突变 aire 河南省人民医院 综合征 术后病理诊断 B1型胸腺瘤
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AIRE基因与陕西汉族类风湿关节炎遗传易感性关联研究
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作者 李晓波 李婷 +1 位作者 陈苗 柴杨 《中华医学遗传学杂志》 CAS CSCD 北大核心 2016年第3期373-377,共5页
目的探讨AIRE基因单核苷酸多态性(single nucleotide polymorphisms,SNP)与陕西汉族类风湿关节炎(rheumatoid arthritis,RA)的相关性。方法收集陕西汉中地区人群样本共960例,其中确诊RA患者384例,正常对照576名,采用病例-对照... 目的探讨AIRE基因单核苷酸多态性(single nucleotide polymorphisms,SNP)与陕西汉族类风湿关节炎(rheumatoid arthritis,RA)的相关性。方法收集陕西汉中地区人群样本共960例,其中确诊RA患者384例,正常对照576名,采用病例-对照研究方法,选取AIRE基因rs2075876、rs760426、rs1800520、rs878081等四个SNP位点,采用单碱基延伸检测SNP位点,分析其与RA的相关性。结果所选A/RE基因4个SNP位点均符合Hardy-Weinberg平衡检验(P〉0.05)。研究发现A/RE基因内含子区域rs2075876G等位基因(OR=1.41,95%CI 1.17~1.71,P=3.7×10^-4),显性模式(OR=1.79,95%CI 1.21~2.63,P:0.002)和隐性模式(OR=1.48,95%CI 1.14~1.93,P=0.003)在RA组与对照组比较差异有统计学意义。rs760426A等位基因(OR=1.26,95%CI 1.04~1.52,P=0.01),隐性模式(OR=1.33,95%CI 1.02~1.73,P=0.03)在RA组与对照组比较差异有统计学意义。而rs878081和rs1800520等位基因频率在RA组与对照组之间差异无统计学意义(P〉0.05)。AIRE基因4个SNP单倍型分析发现,rs2075876、rs760426、rs1800520位于同一连锁不平衡区域,其单倍型CAG在RA组与对照组之间差异有统计学意义(P=0.01)。结论AIRE基因内含子区域rs2075876和rs760426单核苷酸多态性位点,可能是陕西汉族人RA的易感基因位点。 展开更多
关键词 aire基因 单核苷酸多态性 类风湿关节炎
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