利用CNV-seq技术产前诊断Pallister-Killian综合征胎儿一例

应用拷贝数变异测序(copy number variation sequencing,CNV-seq)技术鉴别来源不明的胎儿标记染色体,明确其遗传物质的来源,并探讨此技术在产前诊断中的应用价值。讨论Pallister-Killian综合征(Pallister-Killian syndrome,PKS)的临床特征及遗传学特点,提高对此类罕见染色体疾病的认识。该病例因在妊娠中期超声发现胎儿异常而行羊水穿刺进行CNV-Seq检测,同时分析胎儿和父母的核型。羊水CNV-Seq结果示该样本12号染色体p13.33-p11.1处检测到拷贝数为3.5、片段大小为34.70 Mb的嵌合重复区域;羊水染色体核型结果为47,XY,+i(12)(p10)[58]/46,XX[42],综合上述结果考虑为PKS。通过结合超声结果,综合应用染色体G显带核型分析和CNV-seq技术能准确确认染色体异常片段来源,在产前有效诊断PKS患者。     

中药复方配伍的研究方法及其进展

中药复方是由2味或2味以上中药遵循中医理论组合而成的方剂。多味中药在合适的剂量配比之下,协同发挥作用,实现中医的整体调节治疗。研究中药复方的配伍对推动中药现代化发展、新药开发以及临床应用有着重要意义。近年来,研究者们在传统的"七情和合"与"君臣佐使"的基础上,运用新技术和新方法对中药复方的成分、药效活性和药代动力学性质等进行了研究,从不同角度探讨了中药复方配伍的科学内涵。同时,多种数理方法和模型的建立、网络药理学和数据挖掘方法的发展与应用,也对中药复方配伍研究提供了很大帮助。研究方法的发展虽促进了中药复方配伍的科学研究,但还需进一步建立适合中药复方配伍复杂关系的研究方法,以阐明中药复方及其成分/组分配伍的内在规律,进而构建新的现代中药复方,这也是目前中药复方配伍研究的重点任务。     

医院档案管理工作创新方法初探

档案管理是医院管理中一项重要的内容。医院传统档案管理已经不能满足现代化社会发展的要求,基于此需要加强对医院档案管理的创新,只有在加快医院档案管理创新的基础上才能提高档案管理的效率和水平,并推动社会的进一步发展,可见创新医院档案管理方法是时代发展的必然选择。该文主要针对现阶段创新医院档案管理工作方法的相关问题进行研究,目的是为医院档案管理纳入新的工作方法,提高医院管理水平。     

慢性心力衰竭护理结局分类评价表的构建研究

目的本研究以护理结局分类(NOC)为基础,筛选符合慢性心力衰竭患者的相关护理结局,由此构建具有专科专病特点的慢性心力衰竭患者护理结局评价表。方法成立研究核心小组,应用文献回顾法、专家函询法确定护理结局分类指标,并进行统计学分析,最终建立慢性心力衰竭护理结局分类评价表。结果通过研究,确定慢性心力衰竭护理结局中包含4个领域、8个一级指标、68个二级指标。4个领域分别是生理健康、功能健康、健康知识和行为、心理社会健康。一级指标中包含心脏泵血功能、活动耐力、社会支持、抑郁水平等。二级指标中包含心脏指数、血压、呼吸困难、情绪波动大、步行距离、步行速度等68个指标。统计学分析中:第一、二轮函询专家的积极系数分别为90%、100%,专家权威系数为0.895,专家意见协调程度(P<0.05)。结论本研究成功建立慢性心力衰竭护理结局分类评价表,有助于临床护士用于评价护理措施的有效性,也使其成为一种标准化语言,便于应用到护理电子信息系统中进行绩效测算等。但是本研究不足之处是未能将该研究进行临床实证,未能进一步确认其有效性。     

Helicobacter pylori induces epithelial-mesenchymal transition in gastric carcinogenesis via the AKT/GSK3β signaling pathway

Helicobacter pylori (H. pylori) is a main risk factor for gastric cancer (GC). Epithelial-mesenchymal transition (EMT) is involved in the development and progression of H. pylori-associated GC. However, the exact molecular mechanism of this process remains unclear. The AKT/GSK3β signaling pathway has been demonstrated to promote EMT in several types of cancer. The present study investigated whether H. pylori infection induced EMT, and promoted the development and metastasis of cancer in the normal gastric mucosa, and whether this process was dependent on AKT activation. The expression levels of the EMT-associated proteins, including E-cadherin and N-cadherin, were determined in 165 gastric mucosal samples of different disease stages by immunohistochemical analysis. The expression levels of E-cadherin, N-cadherin, AKT, phosphorylated (p-)AKT (Ser473), GSK3β and p-GSK3β (Ser9) were further determined in H. pylori-infected Mongolian gerbil gastric tissues and cells co-cultured with H. pylori by immunohistochemical analysis and western blotting. The results indicated that the expression levels of the epithelial marker E-cadherin were decreased, whereas the expression levels of the mesenchymal marker N-cadherin were increased during gastric carcinogenesis. Their expression levels were associated with H. pylori infection. Furthermore, H. pylori infection resulted in downregulation of E-cadherin expression and upregulation of N-cadherin expression in Mongolian gerbils and GES-1 cells. In addition, an investigation of the associated mechanism of action revealed that p-AKT (Ser473) and p-GSK3β (Ser9) were activated in GES-1 cells following co-culture with H. pylori. Furthermore, following pretreatment of the cells with the AKT inhibitor VIII, the expression levels of E-cadherin, N-cadherin, p-AKT and p-GSK3β did not show significant differences between GES-1 cells that were co-cultured with or without H. pylori. The levels of p-AKT and p-GSK3β were increased in H. pylori-infected Mongolian gerbils. In conclusion, the present study demonstrated that H. pylori infection activated AKT and resulted in the phosphorylation and inactivation of GSK3β, which in turn promoted early stage EMT. These effects were AKT-dependent. This mechanism may serve as a prerequisite for GC development.     

肝癌介入术治疗患者术中应用心理护理的效果

目的研究在肝癌介入术治疗患者中应用心理护理干预的临床价值。方法本文数据计算目标是2018年1月-2019年6月的60例肝癌介入术治疗患者,以随机数字表法的形式进行分组研究,常规组(n=30)开展一般护理干预,心理组(n=30)开展心理护理干预,比较心理组与常规组肝癌介入术治疗患者临床护理情况。结果心理组肝癌介入术治疗患者治疗后临床护理满意度、焦虑评分、抑郁评分与常规组比较,两组治疗后肝癌介入术治疗患者焦虑评分、抑郁评分与治疗前比较,P<0.05,差异有统计学意义。结论将心理护理干预应用在肝癌介入术治疗患者中可提升护理满意度。     

有机溶剂作业场所通风排毒设施常见问题及控制策略

有机溶剂是工业生产中常见的职业病危害因素,所致的各类急慢性中毒时有发生。有机溶剂挥发至空气中呈无色透明状态,了解其在作业场所的挥发和分布特点,选择合适的通风排毒设施对于有机溶剂危害控制至关重要。本文拟通过分析有机溶剂挥发、分布的影响因素,结合各类通风排毒设施存在的常见问题,重点介绍有代表性的有机溶剂作业场所的通风排毒控制策略。