移居高原罹患矽肺矿工20年心血管X线改变的动态观测

选择移居2500m高原63名矽肺矿工，连续20年摄后前位胸片，按居住年限分组，自身对照，观察矽肺与肺动脉高压的演变过程．分析矽肺X线心血管4项指标的改变。结果表明：动态观察矽肺X线及心血管各指标的改变，对预测高原人体矽肺的发生，评定矽肺的发展程度，观察疗效和对矽肺愈后判定有着非常重要的临床应用价值。     

移居高原罹患矽肺矿工20年心血管X线改变的动态观测

选择移居2500m高原63名矽肺矿工，连续20年摄后前位胸片，按居住年限分组，自身对照，观察矽肺与肺动脉高压的演变过程．分析矽肺X线心血管4项指标的改变。结果表明：动态观察矽肺X线及心血管各指标的改变，对预测高原人体矽肺的发生，评定矽肺的发展程度，观察疗效和对矽肺愈后判定有着非常重要的临床应用价值。     

基于本体的心血管疾病知识库的相关性分析方法研究

选取医学领域中具有代表性的心血管疾病作为知识工程的研究对象,以本体论作为指导理论,针对心血管概念体系研究了语义相关度计算方法,该方法可以定量地分析资源描述框架语言中的概念、特性之间的相关度,并便于进行本体的语义查询中的概念集扩充和查询结果排序.     

Genotypic diagnosis of long QT syndrome by analysis of candidate genes

Objective To diagnose 6 LQTS families by genetic analysis. Methods A total aof 6 LQTS pedigrees with 43 family members were brought together for genetic diagnosis by using short-sequence tandem-repeat (SIR) markers or sequencing. Genomic DNA was extracted from blood samples by standard procedure. STR markers or KCNQ1, KCNH2 and SCN5A were amplified. The haplotype analysis for LQTS was performed. If the family got the negative haplotype analysis, the sequencing was performed. Results LQTS patients were always linkaged with the SCNSA gene in family 1. KCNH2 was linkaged with the disease in family 2 to 5.21 gene carriers were identified from these 5 families. A mutation (A561V-KCNH2) was only found in the proband of family 6 and an SNP (G1691A) was found in all the members of the family. Conclusion Genetic diagnosis can not only improve presymptomatic diagnosis,bnt also provide the basis for personal therapy and research on disease-causing mutations.     

基因修饰小鼠应用于心脏研究的进展:从小鼠到人类,从基因到临床

基因修饰(敲除、变异和过度表达)小鼠自90年代初应用于心脏学研究。近十余年来,利用这一类模型的研究发现对心血管领域所取得的重要进展有着突出的贡献,已经成为该领域里具有举足轻重地位的研究手段。目前,基因修饰小鼠模型的数量日益增多并已形成系统,有关的心脏表现型数据库日趋丰富,多种从整体到分子水平的表现型的研究手段已十分成熟。在今后的心脏研究中,小鼠模型有望对阐明疾病的分子机制和探索新的治疗途径起到很大的推动作用。