Detection of factor Ⅷ intron 1 inversion in severe haemophilia A

Objective Screening the intron 1 inversion of factor Ⅷ (FⅧ) in the population of severe haemophilia A(HA) in China and performing carrier detection and prenatal diagnosis. Methods Using LD-PCR to detect intron 22 inversions and multiple-PCR within two tubes to intron 1 inversions in sereve HA patients. Carrier detection and prenatal diagnosis were performed in affected families. Linkage analysis and DNA sequencing were used to verify these tests. Results One hundred and eighteen patients were seven diagnosed as intron 22 inversions and 7 were intron 1 inversions out of 247 severe HA patients. The prevalence of the intron 1 inversion in Chinese severe haemophilia A patients was 2. 8% (7/247). Six women from family A and 2 from family B were diagnosed as carriers. One fetus from family A was affected fetus. Conclusion Intron 1 inversion could be detected directly by multiple-PCR within two tubes. This method made the strategy more perfective in carrier and prenatal diagnosis of haemophilia A.     

Detection of factor Ⅷ intron 1 inversion in severe haemophilia A

Objective Screening the intron 1 inversion of factor Ⅷ (FⅧ) in the population of severe haemophilia A(HA) in China and performing carrier detection and prenatal diagnosis. Methods Using LD-PCR to detect intron 22 inversions and multiple-PCR within two tubes to intron 1 inversions in sereve HA patients. Carrier detection and prenatal diagnosis were performed in affected families. Linkage analysis and DNA sequencing were used to verify these tests. Results One hundred and eighteen patients were seven diagnosed as intron 22 inversions and 7 were intron 1 inversions out of 247 severe HA patients. The prevalence of the intron 1 inversion in Chinese severe haemophilia A patients was 2. 8% (7/247). Six women from family A and 2 from family B were diagnosed as carriers. One fetus from family A was affected fetus. Conclusion Intron 1 inversion could be detected directly by multiple-PCR within two tubes. This method made the strategy more perfective in carrier and prenatal diagnosis of haemophilia A.     

Detection of factor Ⅷ intron 1 inversion in severe haemophilia A

Objective Screening the intron 1 inversion of factor Ⅷ (FⅧ) in the population of severe haemophilia A(HA) in China and performing carrier detection and prenatal diagnosis. Methods Using LD-PCR to detect intron 22 inversions and multiple-PCR within two tubes to intron 1 inversions in sereve HA patients. Carrier detection and prenatal diagnosis were performed in affected families. Linkage analysis and DNA sequencing were used to verify these tests. Results One hundred and eighteen patients were seven diagnosed as intron 22 inversions and 7 were intron 1 inversions out of 247 severe HA patients. The prevalence of the intron 1 inversion in Chinese severe haemophilia A patients was 2. 8% (7/247). Six women from family A and 2 from family B were diagnosed as carriers. One fetus from family A was affected fetus. Conclusion Intron 1 inversion could be detected directly by multiple-PCR within two tubes. This method made the strategy more perfective in carrier and prenatal diagnosis of haemophilia A.     

唐氏综合征患者永生细胞系的建立

目的建立唐氏综合征患者永生细胞系，为唐氏综合征的基因诊断提供标准品。方法采集唐氏综合征患者外周血，采用EB病毒转化外周血B淋巴细胞和加环孢霉素A抑制T淋巴细胞的技术，建立永生淋巴母细胞系。用细胞遗传学方法、实时荧光定量PCR及短串联重复序列（STR）多态性分析技术检测其建系前后的遗传特性及稳定性。结果建系成功，经过传代、冻存和复苏，建系后第10代染色体核型和DNA标志未发生改变。建系前后染色体核型均为47，XX，＋21。多重荧光相对定量PCR鉴定，唐氏综合征患者外周血原代细胞和转化后第10代细胞株的△Ct值均在-2．55±3s范围内，与正常对照相比△Ct值范围无重叠。21号染色体上的STR基因座D21S11多态性分析表明，唐氏综合征患者外周血原代细胞和转化后第10代细胞株均有同样的3种基因型。结论染色体核型和DNA分析表明，唐氏综合征患者永生细胞系建立前后遗传特点一致，且稳定，可用作基因诊断试剂盒产品质量检测、质量控制的标准品。     

参白浓缩丸质量标准的建立

目的建立参白浓缩丸的质量标准。方法采用薄层色谱法分别对制剂中的黄芪、赤芍和白茅根进行定性鉴别,采用HPLC法对主要有效成分丹酚酸B进行含量测定。结果参白浓缩丸中黄芪、赤芍和白茅根的薄层色谱鉴别斑点清晰,重现性好,无空白干扰;HPLC法含量测定结果显示,丹酚酸B的平均加样回收率为99．74％（RSD=2．08％）精密度RSD=1．74％,重复性RSD=1．19％,稳定性RSD=1．70％。结论本研究建立的方法简便、准确、稳定,可作为参白浓缩丸的质量控制标准。     

四川省妇幼保健院3180例产妇产后保健检查结果分析

目的：本文通过对3180例产妇产后42~50d保健的体检结果进行分析,了解产妇产后保健情况及疾病分布,为改进产后保健策略提供依据,从而提高产后保健质量。方法：选择2012年11月一2013年7月在四川省妇幼保健院进行产后42~50d检查的产妇3180例,其中经阴道分娩1560例,剖官产1620例,分别在产后42~50d进行产后检查,并针对检出的各种疾病进行统计分析。结果：产后42~50d异常情况检出率前四顺位的为：生殖道炎症、盆底功能障碍、乳汁分泌不足、产后子宫复旧不良。不同分娩方式的产妇生殖道炎症、盆底功能障碍、乳汁分泌不足和产后子宫复旧不良检出率差异有统计学意义。结论：产后42d左右进行检查是产褥期保健的重要部分,对产妇身心疾病的筛查、治疗具有重要意义。     

新生儿血培养常见细菌感染及耐药性分析

目的 了解掌握新生儿常见细菌感染及几种常见菌的耐药情况,为临床新生儿感染的预防及用药提供相关依据.方法 新生儿血培养阳性标本进行细菌鉴定及药敏试验.结果 50例阳性标本中,表皮葡萄球菌和溶血性葡萄球菌分别占30％和16％,对多种抗生素,如氨苄西林、青霉素、红霉素100％耐药,对苯唑西林的耐药率分别为86.67％和100％,对克林霉素耐药率分别为81.72％和85.71％,对庆大霉素耐药率分别为46.67％和75％,对万古霉素、吗啉恶酮、呋喃妥因100％敏感;革兰阴性菌中肺炎克雷伯菌肺炎亚种占首位,占22％,抗菌活性较好的药物是阿米卡星、亚胺培南、左氧氟沙星、美洛配能;除此之外还有大肠埃希菌、沃氏葡萄球菌、产气肠杆菌、金黄色葡萄球菌、短小芽孢杆菌、微球菌等的感染,所占比例小.结论 葡萄球菌和肺炎克雷伯菌是新生儿常见细菌感染的病原菌,临床医师应根据细菌鉴定和药敏试验结果选择敏感药物治疗.     

在班级管理中渗透心理健康教育的思考

<正>自1999年大学扩招以来,大学教育由精英教育逐渐变成大众教育。上高中继而上大学也成为家长和学生的首选,而上中等职业学校似乎成为失败者最后无奈的选择。相对高中生、大学生而言是弱势群体,中等职业学校生更易产生焦虑、抑郁、畏难、厌学等心理问题。针对这种状况,作为与他们接触最多的班主任要充分认识开展心理健康教育的重要性,利用各种机会开展形式多样的心理健康教育,提高学生心理素质,促进其身心健康和谐发展,使之成为社会有用人才。下面     

中国北方汉族人群哮喘患者受体基因多态性研究

支气管哮喘是一种多基因遗传病 ,本研究通过检测支气管哮喘患者 β2 肾上腺素受体基因第 46、79位点及高亲和力免疫球蛋白Ｅβ 链受体基因第 5 189、5 191、5 195、6 843位点的多态性 ,探讨其与支气管哮喘发病的相关性。一、对象与方法1.对象 :哮喘组 :支气管哮喘患者 5 5例 ,男 30例 ,女 2 5例 ,年龄 2 0～ 6 6岁。诊断符合中华医学会呼吸病学分会1997年制定的诊断标准。根据临床症状和所需药物情况 ,将患者分为轻度 (包括间歇发作 )和中重度 ,轻度患者 2 5例 ,中重度患者 30例。正常对照组 :正常健康成人 38例 ,男 15例 ,女 2 3例 ,年龄 2…     

硫酸镁联合间苯三酚与地屈孕酮联合孕康对先兆流产的效果对比

目的:探究硫酸镁联合间苯三酚与地屈孕酮联合孕康治疗先兆流产的临床效果.方法:选取我院在2016年5月至2017年5月期间接收的50例先兆流产患者,并将50例患者随机分为对照组和观察组,每组各有患者25名.对照组患者给予地屈孕酮联合孕康进行治疗,而观察组则给予硫酸镁联合间苯三酚进行治疗,对比两组先兆流产患者的临床疗效.结果:观察组先兆流产患者的总有效率为92.00％,明显高于对照组先兆流产患者的68.00％,且差异具有显著性(P＜0.05).结论:硫酸镁联合间苯三酚在治疗先兆流产中的临床疗效显著,能够有效缓解患者的临床表现,从而达到改善预后效果,值得推荐.