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  • 简介:AbstractTrauma-induced pulmonary thromboembolism is the second leading cause of death in severe trauma patients. Primary fibrinolytic hyperactivity combined with hemorrhage and consequential hypercoagulability in severe trauma patients create a huge challenge for clinicians. It is crucial to ensure a safe anticoagulant therapy for trauma patients, but a series of clinical issues need to be answered first, for example, what are the risk factors for traumatic venous thromboembolism? How to assess and determine the status of coagulation dysfunction of patients? When is the optimal timing to initiate pharmacologic prophylaxis for venous thromboembolism? What types of prophylactic agents should be used? How to manage the anticoagulation-related hemorrhage and to determine the optimal timing of restarting chemoprophylaxis? The present review attempts to answer the above questions.

  • 标签: Wounds and injuries Pulmonary thromboembolism Venous thromboembolism Deep venous thrombosis Etiology Treatment Prevention
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  • 简介:AbstractBackground:Cerebrovascular disease has become the leading cause of death in China. The purpose of this article is to analyze China's contribution to the interventional treatment of cerebrovascular diseases.Methods:Bibliometric analysis was used for evaluating the quantity, quality, research hotspots, and cooperation network of publications regarding interventional treatment of cerebrovascular diseases from China. These articles were searched from the database of Web of Science Core Collection. The authors, publication years, citation times, regions, and source journals of retrieved articles were recorded. Network analysis and visualization were performed on Citespace5.6.Results:From 1991 to 2019, a total of 5052 articles regarding cerebrovascular intervention were contributed by Chinese researchers. The number of publications from China grew fastest annually in the latest 5 years among countries. These publications were cited 61,216 times, with 12.12 average citations per item. The h-index was 82. Affiliated hospitals of Capital Medical University contributed most articles. Cerebral ischemia and intracranial aneurysm were the most popular keywords over the three decades. The timeline view of keywords indicated that cerebral ischemia always was a hot spot. Stent techniques were the main treatment tools and still had a strong developing trend. Neural regeneration and neuroprotection were the hot topics of basic researches related to cerebrovascular intervention.Conclusions:The number of researches grows rapidly in China over the decades, but the quality still needs further improvement. The increasing contributions of Chinese researchers to the global knowledge system of cerebrovascular intervention are promising.

  • 标签: Bibliometrics Cerebrovascular disorders Endovascular procedures Interventional radiology Stroke
  • 简介:摘要目的对1个智力障碍家系进行致病基因鉴定及产前诊断。方法家系3代17人,4例男性罹患智力障碍,2019年10月先证者之姐于孕8周时就诊于河南省人民医院要求遗传咨询。签署知情同意书后,采集家系成员外周血,采用全外显子组测序分析先证者(Ⅱ-9,男)及父母基因编码序列,筛选候选致病变异,运用Sanger测序进行候选变异与表型共分离分析。采用同源重组构建候选变异表达载体,进行体外剪接实验,应用逆转录聚合酶链反应、TA克隆和Sanger测序分析候选致病变异对剪接的影响。明确智力障碍的遗传学病因后,采用goldeneyeTM20A基因分型系统和Sanger测序为先证者之姐(Ⅱ-7)进行产前诊断。结果全外显子组测序结果显示先证者携带DLG3基因c.1302G>A(p. S434S)半合子同义变异,该变异与家系内患者表型共分离,先证者之母(Ⅰ-1)为该变异杂合携带者。体外剪接实验结果显示c.1302G>A变异明显影响RNA的正常剪接,88.24%的转录本剪接异常,导致阅读框移码,蛋白功能受损。产前诊断胎儿(Ⅲ-7)羊水未检测到该变异,男胎活产,现1岁6月龄,精神行为发育未见异常,继续随访中。结论DLG3基因c.1302G>A同义变异是导致该家系X连锁智力障碍的原因。

  • 标签: 智力障碍 核蛋白质类 转录因子 沉默变异 全外显子组测序 产前诊断
  • 作者: Junlan Lv Getu Zhaori
  • 学科: 医药卫生 >
  • 创建时间:2022-12-13
  • 出处:《儿科学研究(英文)》 2022年第01期
  • 机构:Department of Neurology, Beijing Children’s Hospital, Capital Medical University, National Center for Children’s Health, Beijing, China,, Beijing Children’s Hospital, Capital Medical University, National Center for Children’s Health, Beijing, China
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  • 简介:AbstractIntroduction:Bowen’s disease is a squamous cell carcinoma in situ. It is more common on the head and neck, less common on the nail units in which it usually involves the second to fourth fingers of both hands. Here, we report a case of Bowen’s disease involving the left fifth finger of a 78-year-old Chinese woman.Case presentation:The patient was treated with nine sessions of topical 5-aminolevulinic acid-photodynamic therapy (5-ALA-PDT), with a one-week interval between sessions. The 5-ALA cream was applied to the lesion and the region surrounding its marginal diameter by 0.5 cm. After 3-4 hours, the lesion was irradiated with 635 ± 10 nm red light at an intensity of 80 mw/cm2 for 20 minutes. An excellent result with a topical 5-ALA-PDT was reached.Discussion:PDT involves the application of a combination of a photosensitizing drug and light to cause selective damage to the target tissue. PDT is more appropriate than surgical excision for lesions located in sites with poor healing ability.Conclusion:PDT appears to be effective, safe and has a better cosmetic outcome in the treatment of Bowen’s disease of the finger unit.

  • 标签: Bowen’s disease treatment photodynamic therapy
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  • 简介:摘要目的探讨基于B/S架构的医疗废物管理系统在医疗废物处置中的应用效果。方法选取烟台市某三甲医院进行医疗废物处置持续质量改进,通过医疗废物相关理论知晓情况、医疗废物处置工作效率和医疗废物处置管理流程规范率等各关键指标来验证医疗废物管理系统的可行性,通过监测指标及结果反馈评估,判断医疗废物管理系统对医疗废物处置改善是否存在积极意义。结果以采用医疗废物管理系统为节点,进行医疗废物处置工作效率和医疗废物处置管理流程规范率等关键指标前后5个月对比,医疗废物分类日错误率从6.00%降到1.33%,工作程序日混乱率从6.67%降到0.67%,医疗废物处置时效滞缓率从7.33%降到2.00%,医疗废物处置管理流程规范率从93.33%提升到100%,且数据均具有统计学意义(P<0.05)。结论医疗废物管理系统自运行以来,通过管理员自上而下的管控和以其独特的时间检索功能,极大解决了以往人工管理的时效滞缓问题;医疗废物分类管理功能则解决了医疗废物分类不明确且混乱的诟病;部门追溯功能使得医疗废物工作责任分工明确,提高了工作效率。基于B/S架构的医疗废物管理系统的构建,为医疗废物科学管理提供了信息化新途径,为当前临床医疗废物的科学有效管理提供一定参考借鉴。

  • 标签: 医疗废物 B/S架构 系统开发 5G互联网+技术
  • 简介:AbstractThe coronavirus disease 2019 (COVID-19) is still causing a wide range of infections and deaths due to the high variability of the severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2). Therefore, it is necessary to establish a reliable and convenient pseudovirus-based neutralization assay to develop drug targeted variants of SARS-CoV-2. Based on the HIV-1 backbone, we generated a high titer luciferase (Luc)-expressing pseudovirus packaging system. Three dominant S mutant substitution pseudovirus were also established and identified compared to wide type in hACE2-overexpressing HEK-293T cells (293T-ACE2 cells). Compared to serine protease inhibitor camostat mesylate, the cysteine protease inhibitor E-64d could significantly block all SARS-CoV-2 mutant S pseudovirus infection in 293T-ACE2 cells. Furthermore, the neutralization ability of two antibodies targeted receptor-binding domain (RBD) of SARS-CoV-2 spike protein (S) was evaluated, which showed different inhibition dose-effect curves among four types of S pseudovirus. Overall, we developed a pseudovirus-based neutralization assay for SARS-CoV-2, which would be readily adapted to SARS-CoV-2 variants for evaluating antibodies.

  • 标签: COVID-19 SARS-CoV-2 variants Pseudovirus Neutralizing antibody RBD
  • 简介:AbstractChina has accumulated multiple practices and experiences in building and enhancing malaria surveillance and response system. As China’s engagement into global health has gathered stronger momentum than ever, China together with the Swiss Tropical and Public Health Institute and WHO has organised five sessions of the International Forum on Surveillance-Response System Leading to Tropical Diseases Elimination during 2012-2020, in which malaria elimination has always been one of the hottest topics. In this study, the roles of international network on the surveillance and response system were explored to achieve a global malaria-free goal. China’s approach to malaria elimination has demonstrated significance of global collaboration on taking joint prevention and control, and building a worldwide institutional-based network.

  • 标签: Surveillance and response system Malaria Elimination Network
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  • 简介:摘要S100蛋白家族是EF手型钙结合蛋白家族中最大的亚家族,只在脊椎动物中表达,目前共有25个已知家族成员。在炎症、肿瘤、细胞凋亡、细胞迁移、能量代谢中均有参与。近年来,S100蛋白家族被报道通过细胞存活及细胞凋亡等途径参与了肺癌、胃癌、胰腺癌、膀胱癌等多种肿瘤的发展及转移,在肿瘤中表达异常。因此这些蛋白被认为可以作为膀胱癌等多种癌症检测的新的标记物。

  • 标签: 膀胱肿瘤 S100蛋白质类 生物标记,肿瘤
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  • 简介:摘要患儿 男,6岁4月龄,因“右下肢跛行5年”于2018年2月就诊于郑州大学附属儿童医院康复医学科。主要临床表现为双下肢无力,右侧显著。腓肠肌肌张力增高,跟腱反射未引出,胸部CT平扫示胸椎侧弯畸形,肌电图示双下肢及右上肢被检神经及肌肉呈神经源性损伤。基因检测示IGHMBP2基因存在c.1202A>G(p.His401Arg)与c.1693G>A(p.Asp565Asn)2个杂合错义变异,属于复合杂合变异。诊断为腓骨肌萎缩症2S型。

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  • 简介:摘要目的探讨S-Detect技术联合弹性成像辅助常规超声鉴别诊断乳腺肿瘤良恶性的价值。方法回顾性分析2018年4月至2020年1月在汕头大学医学院第一附属医院超声检查的136例乳腺肿块患者的超声诊断资料,对超声科诊断为乳腺影像学报告和数据系统3类及以上的乳腺病灶,依次采用常规超声、应变式弹性成像应变率比值法(strain ratio,SR)、S-Detect检查技术进行横断面研究,并获得相应的良恶性判断结果,比较分析各单独诊断及联合诊断的效能。结果常规超声、SR、S-Detect单独及常规超声+SR、常规超声+S-Detect、常规超声+S-Detect+SR联合诊断乳腺肿瘤等六种方法的受试者工作曲线下面积(area under the receiver operating characteristic curve,AUC)分别为0.776、0.839、0.802、0.861、0.832和0.870。SR、S-Detect、常规超声+SR、常规超声+S-Detect常规超声+SR+S-Detect与常规超声组间比较,差异具有统计学意义(Z值分别为1.49、0.70、2.76、2.52、2.96,P值分别为0.137、0.484、0.006、0.012、0.003)。其中以常规超声+S-Detect+SR联合方法的准确度最高,为84.1%;与病理结果比较,其Kappa值为0.687,一致性最强。结论S-Detect联合应变式弹性成像技术辅助常规超声能显著提高乳腺肿瘤良恶性的诊断效能。

  • 标签: 乳腺肿瘤 应变式弹性成像 计算机辅助诊断技术 S-Detect技术
  • 简介:摘要目的通过对医院人类遗传资源管理模式及现状进行梳理,探索人类遗传资源管理的范式,为其他医疗机构开展相关工作提供参考。方法基于麦肯锡7S模型理论构建人类遗传资源管理体系,针对人类遗传资源审批/备案的项目,就其类型分布、涉及人类遗传资源情况和主要研究者特征等角度进行分析。结果《人类遗传资源管理条例》实施以来,人类遗传资源审批/备案项目共计82项,以注册上市为目的的研究占多数;审批/备案项目涉及人类遗传资源材料主要为血液、尿液、血清和血浆等,涉及人类遗传资源数据主要为临床数据、影像数据;主要研究者多为正高级职称,且集中分布在重点学科。结论麦肯锡7S理论为医疗机构开展人类遗传资源管理工作提供了新的参考路径。

  • 标签: 人类遗传资源 医疗机构 麦肯锡7S模型
  • 简介:摘要目的通过16S rDNA测序技术探究脓毒症大鼠早期肠道微生态变化。方法将60只雄性SD大鼠按随机数字表法分为盲肠结扎穿孔术(CLP)组和假手术组(Sham组),每组30只。CLP组采用CLP法制备脓毒症大鼠模型;Sham组只开腹但不进行盲肠结扎穿孔。术后24 h每组取8只大鼠肠道粪便及腹主动脉血,其余大鼠用于观察7 d存活情况。采用酶联免疫吸附试验(ELISA)检测血清肿瘤坏死因子-α(TNF-α)水平;对粪便样本进行16S rDNA测序,利用序列对比和聚类后获得的操作分类单元(OTU)信息进行多样性分析(α多样性和β多样性)、主坐标分析及线性判别分析效应量分析(LEfSe),观察脓毒症大鼠早期肠道微生态的变化并挖掘标志性菌群。结果制模后24 h,CLP组大鼠出现呼吸急促、毛发散乱等表现,且血清TNF-α水平较Sham组显著升高(ng/L:43.95±9.05比11.08±3.27,P<0.01);制模后7 d,Sham组大鼠全部存活,而CLP组大鼠累积生存率仅31.82%。多样性分析显示,Sham组与CLP组α多样性指标比较差异无统计学意义〔物种数量(个):520.00±52.15比492.25±86.61,Chao1丰富度估计量:707.25±65.69比668.93±96.50,Shannon指数:5.74±0.42比5.79±0.91,Simpson指数:0.93±0.03比0.94±0.05,均P>0.05〕;β多样性分析显示,无论是否根据OTU加权,组间差异均大于组内差异(丰度加权矩阵:R=0.23,P=0.04;丰度不加权矩阵:R=0.32,P=0.01)。门水平差异菌群分析显示,与Sham组相比,CLP组变形菌门和TM7菌门丰度显著升高〔18.100%(15.271%,26.665%)比6.974%(2.854%,9.764%),0.125%(0.027%,0.159%)%比0.018%(0.008%,0.021%),均P<0.05〕;在属水平上,CLP组螺杆菌属、钌杆菌属、颗粒链菌属、梭菌属ⅩⅧ等机会致病菌的丰度较Sham组显著升高〔5.090%(1.812%,6.598%)比0.083%(0.034%,0.198%),0.244%(0.116%,0.330%)比0.016%(0.008%,0.029%),0.006%(0.003%,0.010%)比0.001%(0%,0.003%),0.094%(0.035%,0.430%)比0.007%(0.003%,0.030%),均P<0.05〕,而拟普雷沃菌属、罗姆布茨菌属等益生菌的丰度较Sham组显著降低〔7.345%(3.662%,11.546%)比22.504%(14.403%,26.928%),0.113%(0.047%,0.196%)比1.229%(0.809%,2.290%),均P<0.01〕。LEfSe分析结果显示,厚壁菌门所属益生菌在Sham组显著富集,罗姆布茨菌是富集最显著的菌种;而螺杆菌属、颗粒链球菌属和梭菌属ⅩⅧ等机会致病菌在CLP组显著富集,螺杆菌_NGSU_2015为富集最显著的菌种。结论脓毒症早期大鼠肠道微生态结构显著改变,主要表现为拟普雷沃菌属等益生菌丰度显著降低,螺杆菌属等机会致病菌丰度显著升高。

  • 标签: 肠道菌群 脓毒症 盲肠结扎穿孔术 16S rDNA测序