高通量基因测序技术在自然流产遗传学分析中的应用

目的初步探讨高通量测序技术在自然流产绒毛遗传学分析准确性和异常核型检出率中的作用。方法采用高通量测序和生物信息分析技术,选取常规染色体核型分析结果为46,XY的自然流产绒毛样本进行检测,比较两种检测结果的一致性及差异。结果 (1)常规染色体核型分析技术:14例样本染色体核型分析结果均为46,XY。(2)高通量测序技术:14例样本染色体核型均为46,XY,有拷贝数变异(CNV)改变的占43%(6/14),能检测到250kb~16.5M染色体片段的改变。(3)通过两种检测方法的比较,发现高通量测序技术检测时间短,对染色体结构异常有更高的检出率。结论高通量测序技术更敏感、高效,具有更高的染色体异常检出率。可作为常规染色体核型分析的补充检测手段。     

把握机遇 突出特色 努力实现空军疗养院建设跨越式发展

近年来,空军疗养院工作在总部机关和各级党委的领导下,坚持为部队服务的方向,艰苦奋斗,扎实工作,较好地完成了疗养工作任务。今后几年总部将以特勤疗养工作为重点,加大投入力度,整治疗养环境,补充医疗设备,加快军队疗养院建设步伐。空军疗养院应紧紧抓住这个难得的发展机遇,科学规划,强化管理,加快建设,努力实现空军疗养院整体建设跨越式发展。 1 提高认识,切实加强对疗养院建设的组织领导 “姓军”为兵是军队疗养院的根本职能,也是加     

医学生综合能力考核方法的改革实践与思考

文章从医学生综合能力考核改革的背景、考核的内容和与一阶段考试的差别以及综合能力考核反馈和效果等方面介绍了自2005年来天津医科大学基础医学院医学生综合能力考核方法的改革实践,提出考核方法要符合教学目标,才能促进学生学习、促进教师教学,起到引导督促的作用。     

单纯性肝功能异常与妊娠并发症关系研究

目的：分析妊娠期单纯性肝功能异常与妊娠并发症的关系。方法：选取单纯性肝功能异常孕妇122例为肝功能异常组,同期正常孕妇122例为对照组,统计肝功能异常组转氨酶变化情况;比较2组孕妇妊娠并发症发生率。结果：单纯性肝功能异常转氨酶升高3倍以内占89．08％。在肝功能异常组中,妊娠合并胎膜早破、胎儿窘迫和高血压病的情况高于对照组,差异有显著的统计学意义（P〈0．05）。与对照组相比,妊娠合并血糖异常、羊水过少和羊水过多的情况无显著的统计学差异（P〉O．05）。结论：妊娠期单纯性肝功能异常患者妊娠并发症发病率高,对于妊娠早期发现单纯性肝功能异常的孕妇,需加强监护,积极处理并发症,减少不良妊娠并发症的出现。     

妊娠合并甲状腺功能减退症或亚临床甲状腺功能减退症77例临床分析

Objective To investigate the maternal and fetal outcomes of pregnant women with hypothyroidism or subclinical hypothyroidism. Methods From Jan. 2005 to Mar. 2008, clinical records of 77 women with hypothyroidism (n=57) or subclinical hypothyroidism (n = 20) during pregnancy who delivered at Peking Union Medical College Hospital were reviewed. The basic information, maternal complications and neonatal outcomes of the patients were compared with 79 healthy women who delivered during the same period. Results The prevalence of maternal hypothyroidism during the study period was 0.74% ,and that of maternal subclinical hypothyroidism was 0.26%. The mean neonatal birth weight of women with hypothyroidism was lower than that of the control [(3191.8±659.47 g) vs (3301.9±423. 1 g), P<0.05], the incidence of abnormal glucose metabolism was higher (24.6% vs 11.4% ,P<0.05), and small for gestational age infants were more common than in the control group (12. 3% vs 2. 5%, P<0. 05). The maternal and fetal outcomes of women with subclinical hypothyroidism during pregnancy showed no difference compared with the control. Conclusions Early screening for the high risk women and appropriate management are important to improve the neonatal and fetal outcomes of women with hypothyroidism and subclinical hypothyroidism during pregnancy.     

孕中期唐氏综合征血清学不同筛查方案的前瞻性对照研究及卫生经济学分析

目的比较孕中期唐氏综合征血清学二联与三联的筛查效率与经济学分析。方法收集2008年9～12月在北京市海淀区妇幼保健院产前筛查中心进行孕中期唐氏综合征筛查的孕妇,应用时间分辨荧光免疫法（TR—FIA）进行血清学筛查二联[甲胎蛋白（AFP）＋游离β-人绒毛膜促性腺激素（β—hCG）]及三联[AFP＋游离β—hcG＋游离雌三醇（E3）]检测,并随访其妊娠结局。结果（1）本研究共收集孕中期孕妇血清样本4,707例,随访到妊娠结局的4,245例,失访462例,妊娠结局随访率90．2％。其中唐氏综合征（21-三体）3例,其他染色体异常4例,神经管畸形1例。未出现因侵人性产前诊断流产患者。（2）三联筛查唐氏综合征检出率66．7％、假阳性率5．26％,所有染色体异常检出率75％;二联筛查检出率33．3％、假阳性率4．01％,所有染色体异常检出率37．5％;神经管畸形（NTD）检出率100％、假阳性率0．4％;18-三体假阳性率0．24％。三联筛查检出率高于二联筛查。（3）三联筛查每筛查出1例唐氏儿,所花血清学筛查及产前诊断费用约为499,375元,二联筛查为781,200元,二联筛查费用明显高于三联。结论中孕期血清学筛查效率三联筛查优于二联筛查,用于产前筛查与产前诊断费用三联筛查也低于二联筛查。     

宫颈癌组织中PTEN、P16蛋白的表达及临床意义

①目的　探讨肿瘤抑制基因PTEN、P16与原发性宫颈癌的关系。②方法　应用免疫组化技术 ,检测2 0例正常宫颈组织和 71例原发性宫颈癌组织PTEN、P16蛋白表达水平。③结果　PTEN蛋白在宫颈癌组织中阴性表达率为 33.80 % ,PTEN的阴性表达与鳞癌关系密切 (χ2 =7.5 3,P <0 .0 5 ) ,与腺癌无明显关系。P16蛋白阴性表达率为 11.2 6 % ,P16蛋白的阴性表达与宫颈癌无明显关系 ;在宫颈鳞癌组织中P16蛋白过表达率为 5 6 .4 5 % ,两者关系密切 (χ2 =5 .99,P <0 .0 5 )。④结论　PTEN蛋白阴性表达在宫颈鳞癌中起重要作用 ,与腺癌关系不密切。在宫颈鳞癌中P16蛋白的过表达较阴性表达更重要 ,可能是宫颈癌中高危人乳头状病毒感染的一种表现。     

米索前列醇用于足月妊娠引产效果观察

米索前列醇用于足月妊娠引产效果观察侯希芳王晓光戚红曲宁杨瑶１９９５年１～６月，我们选择米索前列醇用于足月妊娠引产，效果良好，现报告如下。１临床资料１．１一般资料正常初产妇６０例，年龄２３～３２岁，平均２６岁。宫颈Ｂｉｓｈｏｐ评分≤４分，妊娠２７３～２...     

妊娠合并甲状腺功能减退症或亚临床甲状腺功能减退症77例临床分析

Objective To investigate the maternal and fetal outcomes of pregnant women with hypothyroidism or subclinical hypothyroidism. Methods From Jan. 2005 to Mar. 2008, clinical records of 77 women with hypothyroidism (n=57) or subclinical hypothyroidism (n = 20) during pregnancy who delivered at Peking Union Medical College Hospital were reviewed. The basic information, maternal complications and neonatal outcomes of the patients were compared with 79 healthy women who delivered during the same period. Results The prevalence of maternal hypothyroidism during the study period was 0.74% ,and that of maternal subclinical hypothyroidism was 0.26%. The mean neonatal birth weight of women with hypothyroidism was lower than that of the control [(3191.8±659.47 g) vs (3301.9±423. 1 g), P<0.05], the incidence of abnormal glucose metabolism was higher (24.6% vs 11.4% ,P<0.05), and small for gestational age infants were more common than in the control group (12. 3% vs 2. 5%, P<0. 05). The maternal and fetal outcomes of women with subclinical hypothyroidism during pregnancy showed no difference compared with the control. Conclusions Early screening for the high risk women and appropriate management are important to improve the neonatal and fetal outcomes of women with hypothyroidism and subclinical hypothyroidism during pregnancy.     

妊娠合并甲状腺功能减退症或亚临床甲状腺功能减退症77例临床分析

Objective To investigate the maternal and fetal outcomes of pregnant women with hypothyroidism or subclinical hypothyroidism. Methods From Jan. 2005 to Mar. 2008, clinical records of 77 women with hypothyroidism (n=57) or subclinical hypothyroidism (n = 20) during pregnancy who delivered at Peking Union Medical College Hospital were reviewed. The basic information, maternal complications and neonatal outcomes of the patients were compared with 79 healthy women who delivered during the same period. Results The prevalence of maternal hypothyroidism during the study period was 0.74% ,and that of maternal subclinical hypothyroidism was 0.26%. The mean neonatal birth weight of women with hypothyroidism was lower than that of the control [(3191.8±659.47 g) vs (3301.9±423. 1 g), P<0.05], the incidence of abnormal glucose metabolism was higher (24.6% vs 11.4% ,P<0.05), and small for gestational age infants were more common than in the control group (12. 3% vs 2. 5%, P<0. 05). The maternal and fetal outcomes of women with subclinical hypothyroidism during pregnancy showed no difference compared with the control. Conclusions Early screening for the high risk women and appropriate management are important to improve the neonatal and fetal outcomes of women with hypothyroidism and subclinical hypothyroidism during pregnancy.