从肿瘤基因表达数据挖掘分类规则的研究

基于肿瘤基因表达数据,利用信息科学的方法和技术建立肿瘤预测分类模型,对肿瘤基因表达模式研究和肿瘤的诊断识别具有重要意义.本研究提出一种从肿瘤基因表达数据中直接挖掘分类规则建立肿瘤预测分类器的方法.该方法首先抽取实验样本集,分别找出标记肿瘤和正常组织样本的分类特征,由此生成可预测样本类别的分类规则,对每个未知类别样本,按照置信度最高原则,选择一个分类规则作为预测结构.本研究的实验数据来自Broad Institute的前列腺癌基因表达数据,实验结果显示该方法的预测精度在90%以上,且同时获得了大量结构透明的分类预测规则,表明本研究的方法是可行的和有效的.     

供应室消毒隔离工作管理现状及应对措施

供应室是医院无菌器材、敷料和物品的供应单位,其工作质量影响医院感染的预防和控制.本文通过对供应室现存问题的分析,提出相应对策,包括布局合理、设备先进,加强工作人员的职业防护,建立健全质量监督管理制度,人员配置合理化、加强素质培养,以期为今后管理提供参考依据.     

脂联素基因H241P突变与老年人2型糖尿病

目的观察人脂联素基因(apM1)H241P突变与老年人2型糖尿病的关系。方法选取372例无亲缘关系的安徽省汉族老年人，其中糖耐量正常者168例(对照组)，2型糖尿病患者204例(糖尿病组)；用稳态模式胰岛素抵抗指数(HOMA—IR)及胰岛β细胞功能指数(HOMA—βcell)估测胰岛β细胞胰岛素分泌及外周组织胰岛素敏感性；采用聚合酶链反应-单链构象多态性(PCR—SSCP)方法对apM1基因突变进行初筛分析，并对不同带型的标本进行DNA直接测序。结果(1)糖尿病组发现apM1基因H241P突变8例(3．9％)，对照组中仅发现1例(0．6％)；(2)9例突变携带者均为肥胖症患者，均正在服用调脂药，8例服用降压药，4例与遗传有关。结论apM1基因H241P突变与安徽省汉族老年人2型糖尿病发病有关。     

Clinical and molecular genetic analysis for 7 patients from 5 pedigrees with 17α-hydroxylase/17, 20 lyase deficiency

Objective To investigate the clinical and genetic characteristics of 7 patients from 5 families with 17α-hydroxylase/17, 20 lyase deficiency (17OHD) and the CYP17A1 mutation in Chinese. Methods Clinical features and laboratory data were collected from 5 families with 17OHD. PCR direct sequencing was performed to screen the mutation of CYP17A1 gene of the patients. Polymerase chain reaction-restriction fragment length polymorphism(PCR-RFLP) and sequencing were performed to screen the mutations of CYP17A1 gene in 288 healthy individuals from Shandong province. Results Seven patients (5 of them were 46, XX; 2 were 46, XY) had typical clinical presentation of sexual infantilism, hypertension and hypokalemia. Hormone profile indicated decreased plasma cotisol and sex hormones, and elevated blood adrenocorticotrophic hormone (ACTH). TAC329AA and H373L in exon 6 and D487_ F489del in exon 8 were identified from the patients. One heterozygote for D487_F489del was identified in 288 healthy controls. Conclusion The TAC329AA and D487_F489del of the CYP17A1 gene were the most frequent mutations in Chinese with 17OHD. There might be certain frequency of heterozygotes for D487_ F489del in Chinese population.     

Clinical and molecular genetic analysis for 7 patients from 5 pedigrees with 17α-hydroxylase/17, 20 lyase deficiency

Objective To investigate the clinical and genetic characteristics of 7 patients from 5 families with 17α-hydroxylase/17, 20 lyase deficiency (17OHD) and the CYP17A1 mutation in Chinese. Methods Clinical features and laboratory data were collected from 5 families with 17OHD. PCR direct sequencing was performed to screen the mutation of CYP17A1 gene of the patients. Polymerase chain reaction-restriction fragment length polymorphism(PCR-RFLP) and sequencing were performed to screen the mutations of CYP17A1 gene in 288 healthy individuals from Shandong province. Results Seven patients (5 of them were 46, XX; 2 were 46, XY) had typical clinical presentation of sexual infantilism, hypertension and hypokalemia. Hormone profile indicated decreased plasma cotisol and sex hormones, and elevated blood adrenocorticotrophic hormone (ACTH). TAC329AA and H373L in exon 6 and D487_ F489del in exon 8 were identified from the patients. One heterozygote for D487_F489del was identified in 288 healthy controls. Conclusion The TAC329AA and D487_F489del of the CYP17A1 gene were the most frequent mutations in Chinese with 17OHD. There might be certain frequency of heterozygotes for D487_ F489del in Chinese population.     

脂联素基因SNP276多态性与冠心病及胰岛素敏感性的相关性

目的:观察中国人脂联素基因(apM1)与冠心病(CHD)及胰岛素敏感性的关系。方法:对照组136例,冠心病患者281例,又分为单纯CHD患者131例,合并2型糖尿病患者150例,均为无亲缘关系的安徽地区汉族人。用稳态模式胰岛素抵抗指数(HOMA-IR)及胰岛β细胞功能指数(HOMA-β)估测胰岛β细胞胰岛素分泌功能及外周组织胰岛素敏感性。采用聚合酶链反应-单链构象多态性(PCR-SSCP)方法初筛apM1基因后,进行DNA直接测序。结果:apM1基因SNP276基因型GG+CT与TT型相比患CHD的风险增加,风险比值(OR)=2.976,95%可信限1.135-7.804,P=0.027,在固定性别、年龄及体重指数后,偏相关分析表明,GG+CT基因型与HOMA-IR显著正相关(r=0.174,P=0.005)。对照组中GG型或GT型与TT型比较,GG型或GT型的体重指数、腰臀比、体脂百分比、收缩压、空腹胰岛素及HOMA-IR均高于TT型(P<0.05,0.01或0.001),同时,GG型的空腹血糖亦显著升高(P<0.05)。结论:apM1基因SNP276多态性与冠心病及胰岛素敏感性具有相关性。     

Clinical and molecular genetic analysis for 7 patients from 5 pedigrees with 17α-hydroxylase/17, 20 lyase deficiency

Objective To investigate the clinical and genetic characteristics of 7 patients from 5 families with 17α-hydroxylase/17, 20 lyase deficiency (17OHD) and the CYP17A1 mutation in Chinese. Methods Clinical features and laboratory data were collected from 5 families with 17OHD. PCR direct sequencing was performed to screen the mutation of CYP17A1 gene of the patients. Polymerase chain reaction-restriction fragment length polymorphism(PCR-RFLP) and sequencing were performed to screen the mutations of CYP17A1 gene in 288 healthy individuals from Shandong province. Results Seven patients (5 of them were 46, XX; 2 were 46, XY) had typical clinical presentation of sexual infantilism, hypertension and hypokalemia. Hormone profile indicated decreased plasma cotisol and sex hormones, and elevated blood adrenocorticotrophic hormone (ACTH). TAC329AA and H373L in exon 6 and D487_ F489del in exon 8 were identified from the patients. One heterozygote for D487_F489del was identified in 288 healthy controls. Conclusion The TAC329AA and D487_F489del of the CYP17A1 gene were the most frequent mutations in Chinese with 17OHD. There might be certain frequency of heterozygotes for D487_ F489del in Chinese population.     

共识声明:ACTH依赖性库欣综合征的治疗

这是由欧美9个国家、32名在该领域中领衔的内分泌和神经外科专家经二天文献评价和讨论后达成的一份共识.     

Clinical and molecular genetic analysis for 7 patients from 5 pedigrees with 17α-hydroxylase/17, 20 lyase deficiency

Objective To investigate the clinical and genetic characteristics of 7 patients from 5 families with 17α-hydroxylase/17, 20 lyase deficiency (17OHD) and the CYP17A1 mutation in Chinese. Methods Clinical features and laboratory data were collected from 5 families with 17OHD. PCR direct sequencing was performed to screen the mutation of CYP17A1 gene of the patients. Polymerase chain reaction-restriction fragment length polymorphism(PCR-RFLP) and sequencing were performed to screen the mutations of CYP17A1 gene in 288 healthy individuals from Shandong province. Results Seven patients (5 of them were 46, XX; 2 were 46, XY) had typical clinical presentation of sexual infantilism, hypertension and hypokalemia. Hormone profile indicated decreased plasma cotisol and sex hormones, and elevated blood adrenocorticotrophic hormone (ACTH). TAC329AA and H373L in exon 6 and D487_ F489del in exon 8 were identified from the patients. One heterozygote for D487_F489del was identified in 288 healthy controls. Conclusion The TAC329AA and D487_F489del of the CYP17A1 gene were the most frequent mutations in Chinese with 17OHD. There might be certain frequency of heterozygotes for D487_ F489del in Chinese population.     

胸腹联合伤患者的护理体会

目的:总结分析胸腹联合伤患者的观察及护理。方法:对58例胸腹联合伤患者进行抢救及精心的护理。结果:本组病例2例因病情过重抢救无效死亡,余均治愈出院。结论:严密的观察,精心全面的护理,可防止、减少胸腹联合伤并发症的发生,提高抢救成功率及缩短住院治疗时间。