基因组拷贝数变异测序与染色体核型分析在胎儿遗传学诊断中的比较

目的比较基因组拷贝数变异测序(CNV-seq)技术和染色体核型分析和在产前胎儿遗传学诊断中的应用价值。方法收集来我院有产前诊断指征进行羊水穿刺的259例孕妇,取材后,送检染色体核型分析和CNV-seq,比较两种方法在产前诊断中的优缺点。结果259例标本中,共诊断异常染色体核型及微缺失微重复23例,总阳性诊断率8.88%(23/259),CNV-seq结果显示,共有22例染色体拷贝数异常(12例三体+9例微缺失微重复+1例三倍体),检出率为8.49%;染色体核型分析结果显示为:17例染色体异常(12例三体+3例结构异常+1例嵌合型+1例三倍体),检出率为6.56%。此外还检出染色体多态7例。结论CNV-seq与染色体核型分析对于染色体非整倍体的检测效力一致,CNV-seq能检测染色体微缺失微重复,染色体核型分析则能诊断出三体具体核型,在怀疑性染色体异常时,建议行两者联合检测。     

基于OBE理念的住院医师规范化培训混合式课程体系构建

在深入分析住院医师规范化培训课程体系现状基础上，介绍中南大学湘雅医院以成果导向教育理念为指引，基于住院医师“任务、态度、职业特征”3个方面成果目标为导向，构建住院医师规范化培训混合式课程体系；并从成果设计、课程设计、课程实施、成绩记录、成果评价5个方面解析课程体系的构建流程，对进一步完善住院医师规范化培训目标、内容、方式与方法具有较大的参考价值。     

Aloe‐emodin: A review of its pharmacology,toxicity, and pharmacokinetics

Aloe‐emodin is a naturally anthraquinone derivative and an active ingredient of Chinese herbs, such as Cassia occidentalis, Rheum palmatum L., Aloe vera, and Polygonum multiflorum Thunb. Emerging evidence suggests that aloe‐emodin exhibits many pharmacological effects, including anticancer, antivirus, anti‐inflammatory, antibacterial, antiparasitic, neuroprotective, and hepatoprotective activities. These pharmacological properties lay the foundation for the treatment of various diseases, including influenza virus, inflammation, sepsis, Alzheimer's disease, glaucoma, malaria, liver fibrosis, psoriasis, Type 2 diabetes, growth disorders, and several types of cancers. However, an increasing number of published studies have reported adverse effects of aloe‐emodin. The primary toxicity among these reports is hepatotoxicity and nephrotoxicity, which are of wide concern worldwide. Pharmacokinetic studies have demonstrated that aloe‐emodin has a poor intestinal absorption, short elimination half‐life, and low bioavailability. This review aims to provide a comprehensive summary of the pharmacology, toxicity, and pharmacokinetics of aloe‐emodin reported to date with an emphasis on its biological properties and mechanisms of action.     

虚拟现实技术在姑息护理领域的应用进展

介绍姑息护理和虚拟现实技术相关概念,分析虚拟现实技术在姑息护理领域的优势,并系统综述虚拟现实技术在控制躯体症状、提供心理支持、提高社会功能、姑息护理团队培养及家属死亡教育方面的应用现状,提出面临的挑战及展望,旨在为虚拟现实技术在我国姑息护理领域的应用提供参考。     

三月龄婴儿新型冠状病毒感染一例

患儿女,3月19日龄,湖北孝感人,因发热4 h住院,外周血白细胞不高,胸X线片示右肺纹理略增粗,似有点片状阴影,咽拭子2019新型冠状病毒(2019-nCoV)核酸检测呈阳性,2019-nCoV感染诊断成立,符合普通型。经积极治疗15 d后痊愈出院。患儿呼吸道症状出现较晚,症状较轻。患儿父母在患儿发病7d后2019-nCoV检测阳性,提示家庭内传播是2019-nCoV感染的重要传播途径。患儿虽然连续3次咽拭子转阴,同期的痰及粪便仍可检出2019-nCoV核酸。患儿母亲无发热及呼吸道症状,但胸部CT发现左肺及右上肺渗出性病变,提示肺部病变可见于无症状2019-nCoV感染者。     

血清胱抑素C和尿微量白蛋白联合检测在人类免疫缺陷病毒感染者肾功能损伤检测中的应用价值

目的评估血肌酐和尿常规的常规检测基础上联合血清胱抑素C和尿微量白蛋白检测在人类免疫缺陷病毒（HIV）感染者肾功能损伤检测中的应用价值。 方法以2019年2～5月于首都医科大学附属北京地坛医院感染一科住院的169例HIV感染者为研究对象，完善其尿常规、尿微量白蛋白、血肌酐、血清胱抑素C检测；分析尿蛋白及尿微量白蛋白的阳性检出率及其差异，血肌酐升高及血清胱抑素C升高的比例及其差异。计算应用替诺福韦酯（TDF）及合并丙型肝炎、高血压、糖尿病、肿瘤的肾功能损伤的相对危险度。 结果169例HIV感染者中尿常规示尿蛋白阳性者5例（3.0%），尿微量白蛋白升高者17例（10.1%），两者阳性检出率差异具有统计学意义（χ² = 5.9、P = 0.007）。血肌酐升高者10例（5.9%），血清胱抑素C升高者20例（11.8%），两者阳性检出率差异具有统计学意义（χ² = 3.0、P = 0.042）。在尿常规和血肌酐检测的基础上联合检测尿微量白蛋白和血清胱抑素C的总体阳性检出率为49例（30.0%）。CD4⁺ T淋巴细胞计数< 200个/μl与≥ 200个/μl组患者血清胱抑素C水平分别为0.94（0.83，1.05）mg/L、0.85（0.77，0.95）mg/L，差异具有统计学意义（Z =-3.02、P = 0.003）。应用TDF及合并丙型肝炎、高血压、糖尿病、肿瘤的肾功能损伤的相对危险度分别为1.1、1.5、1.9、2.2和1.4。 结论HIV感染者中，单纯以尿常规为依据评估有无蛋白尿，以血肌酐水平为依据评估肾小球滤过功能会低估肾功能损伤的患病率。在常规检测血肌酐和尿常规的基础上联合检测血清胱抑素C和尿微量白蛋白在提高HIV感染者肾功能损伤检出率方面具有重要的应用价值。低CD4⁺ T淋巴细胞计数、应用TDF及合并丙型肝炎、高血压、糖尿病、肿瘤均为肾功能损伤的危险因素。     

槽型鞘脑穿刺针的设计及动物实验初步结果

目的测试槽型鞘脑穿刺针用于实验动物脑组织穿刺的可操作性和安全性。 方法新西兰兔6只，麻醉后骨窗开颅显露双侧大脑半球，左侧大脑半球以传统脑穿刺针进行穿刺，右侧以槽型鞘脑穿刺针穿刺，完成穿刺、拔出穿刺针留置槽形鞘、置管后拔出槽形鞘等步骤。拔出穿刺针后穿刺道以苏木素染色，观察30 min后处死实验动物，提取脑组织，沿脑组织穿刺道制3 μm厚切片，常规HE染色，显微镜下观察脑组织穿刺道病理解剖学变化（脑组织破损及出血情况），评估损伤程度。 结果2种穿刺针穿刺操作后均会造成穿刺道局灶性脑挫裂伤，表现为穿刺道组织缺损、脑组织淤血、水肿。光镜下可见穿刺道脑组织破碎、细胞排列不规则、水肿的细胞体增大和细胞核固缩，穿刺道外围细胞结构正常。2种穿刺针针道脑组织病理特征差别不明显。 结论槽型鞘脑穿刺针穿刺操作简便，通过槽型鞘置入引流管方便，脑组织损伤程度与传统脑穿刺针无明显差别。     

Unique diversity and functions of the arsenic-methylating microorganisms from the tailings of Shimen Realgar Mine

Microbial arsenic (As) methylation plays important roles in the As biogeochemical cycle. However, little is known about the diversity and functions of As-methylating microorganisms from the tailings of a Realgar Mine, which is characterized as containing extremely high concentrations of As. To address this issue, we collected five samples (T1–T5) from the tailings of Shimen Realgar Mine. Microcosm assays without addition of exogenous As and carbon indicated that all the five samples possess significant As-methylating activities, producing 0.8–5.7 μg/L DMAsV, and 1.1–10.7 μg/L MMAsV with an exception of T3, from which MMAsV was not detectable after 14.0 days of incubation. In comparison, addition of 20.0 mM lactate to the microcosms significantly enhanced the activities of these samples; the produced DMAsV and MMAsV are 8.0–39.7 μg/L and 5.8–38.3 μg/L, respectively. The biogenic DMAsV shows significant positive correlations with the Fe concentrations and negative correlations with the total nitrogen concentrations in the environment. A total of 63 different arsM genes were identified from the five samples, which code for new or new-type ArsM proteins, suggesting that a unique diversity of As-methylating microbes are present in the environment. The microbial community structures of the samples were significantly shaped by the environmental total organic carbon, total As contents and NO3− contents. These data help to better understand the microorganisms-catalyzed As methylation occurred in the environment with extremely high contents of As.     

A Broad Learning System with Ensemble and Classification Methods for Multi-step-ahead Wind Speed Prediction

Cognitive Computation - Short-term wind speed prediction plays a significant role in the management of large-scale wind power plants. However, wind speed prediction is extremely complex and...