外伤性大面积脑梗死10例分析

外伤性大面积脑梗死是急性重型颅脑损伤中较难预防且病死率较高的疾病。特别近年来由于经济及交通事业的飞速发展，重度颅脑外伤尤其是大面积外伤性脑梗死的诊断病例呈逐渐增多趋势。大面积外伤性脑梗死具有死亡率及病残率高的特点，给人民群众健康造成极大危害。现将山西省吕梁市人民医院近两年收治的10例病例报告如下。     

细胞色素P450 CYP1A1基因多态与鼻咽癌易感性的关联分析

目的 利用以核心家系为基础的关联研究探讨细胞色素P450酶系(cytochrome P450,CYP450)CYP1A1基因m1和m2多态性并分析其与鼻咽癌易感性的关联.方法 收集457个广东鼻咽癌核心家系(每个核心家系由患者和父母或同胞构成)共2134名成员作为研究对象,采用聚合酶链反应-限制性片段长度多态性(PCR-RFLP)方法对CYPlAl基因单核苷酸多态性(SNP)位点m1和m2(其参考编号分别为rs4646903和rs1048943)进行基因分型.挑选PCR产物测序验证.运用家系为基础的相关性检验(family-based association test,FBAT)软件分析这两个多态位点的基因型及其单体型与鼻咽癌易感性的关联.结果 FBAT软件分析结果 显示,位点m1和m2的微效等位基因频率(MAF)分别为0.442(C)和0.339(G).其中无论是否根据EB病毒壳抗原抗体(VCA-IgA)分层,m1位点与鼻咽癌的易感性之间关联均无统计学意义[未分层:X2=2.399,P=0.301;分层后:低滴度组(VCA-IgA<1:80),MAF=0.457(C),X2=1.221,P=0.543;高滴度组(VCA-IgA≥1:80),MAF=0.427(C),X2=2.832,P=0.243];对m2位点来说,末根据VCA-IgA分层时,该位点与鼻咽癌的易感性之间关联无统计学意义(X2=2.694,P=0.260).分层后,在低滴度组,累加和显性模式下,位点m2等位基因G显示了从亲代到子代传递减少[MAF=0.347(G);Z<,累加>=-2.120,P<,累加>=0.034;Z显性=-2.303,P显性=0.021],全局统计也提示了传递的改变(X2=5.394,P=0.067);由这两个位点构建的单体型TG(0.057)可能降低鼻咽癌的发病风险(Z=-2.002,P=0.045),全局统计也提示CYP1A1基因单体型可能与鼻咽癌易感性有关系(X2=7.067,P=0.070).结论 以家系为基础的相关性研究发现CYP1A1基因多态位点m1与鼻咽癌的易感性之间关联无统计学意义,位点m2基因多态性可能与鼻咽癌的发病风险降低有关系.     

乳腺癌家族聚集性的遗传流行病学研究——危险因素、分离比、遗传度分析

目的 研究遗传因素在乳腺癌发生中的作用。方法 采用１：１匹配的病例对照研究方法，。从我国四个城市的主要医院收集了１９９６年１０月￣１９９７年１月间入院的乳腺癌新发病例及其对照计３１３对，并对其进行家系调查。采用Ｌｏｇｉｓｔｉｃ回归分析方法进行乳腺癌危险因素分析。采用Ｌｉ－Ｍａｎｔｅｌ－Ｇａｒｔ法进行乳腺癌分离比的估算，采用Ｆａｌｃｏｎｅｒ回归法进行遗传度估算。结果 乳腺部家族史是一显著的危险因素，     

重症哮喘62例治疗分析

哮喘是全球最常见的呼吸道慢性疾病之一.重症哮喘占哮喘患者的5%～10%,是临床上常见危重急症.     

细胞色素P450 CYP1A1基因多态与鼻咽癌易感性的关联分析

Objective To investigate the association between CYP1A1 gene polymorphisms and susceptibility of nasopharyngeal carcinoma in Cantonese nuclear families through family-based association study. Methods A total of 457 Cantonese nuclear families, consisting of 2134 members, were recruited as subjects. Each family included two parents and at least one offspring with nasopharyngeal carcinoma. Two single nucleotide polymorphisms (SNP) in CYP1A1 named m1 (rs4646903) and m2 (rs1048943) , were genotyped by PCR-RFLP assay and verified by directly sequencing. The genotype data were analyzed with family-based association test (FBAT) software to check the linkage and association between the two genetic markers and susceptibility of nasopharyngeal carcinoma. Results FBAT analysis showed that the minor allele frequencies (MAF) of the two SN P were 0. 442 (C) and 0. 339 (G) respectively. For m1 polymorphism in CYP1A1 gene was not significantly associated with nasopharyngeal carcinoma in our study population whether stratified with VCA-IgA or not (without stratification : X2=2. 399, P=0. 301 ; with stratification : Iow-titer group (VCA-IgA<1 : 80), MAF=0. 457 (C), X2=1.221, P=0.543 ; high-titer group (VCA-IgA ≥1 : 80), MAF=0. 427 (C), X2=2. 832, P=0. 243). For m2 polymorphism, when VCA-IgA<1 : 80, the G allele showed decreased transmission under additive and dominant model (MAF=0. 347 (G) ; Zadditive=-2. 120,Padditive=0. 034;Zdominant=-2. 303,Pdominant=0.021)and a boundary P value was got with global statistic (X2=5. 394, P=0. 067). Haplotype TG (0. 057), constructed by ml and m2, might decrease nasophargneal carcinoma risk (Z=-2. 002,P=0. 045). A boundary P value was also got with global statistic (X2=7. 067 ,P=0. 070). Conclusion There was no statistical significance between ml polymorphism and susceptibility of nasopharyngeal carcinoma in Cantonese nuclear families. And this study showed that m2 polymorphism might associated with the decrease of nasopharyngeal carcinoma in Cantonese nuclear families.     

癌的遗传易感性与辐射致癌

综述了家族性癌基因的种类及其作用机制，并对其与辐射致癌的关系进行了探讨，进而通过流行病学研究资料所获得的证据，认为在人群中存在对特定肿瘤易感的遗传学亚群，该亚群可能对辐射致癌高敏感。     

癌的遗传易感性与辐射致癌

综述了家族性癌基因的种类及其作用机制，并对其与辐射致癌的关系进行了探讨，进而通过流行病学研究资料所获得的证据，认为在人群中存在对特定肿瘤易感的遗传学亚群，该亚群可能对辐射致癌（指上述特定肿瘤）高敏感。     

脑立体定向手术摘除脑内3根缝衣针

1 病例报告 病人,男,26岁,汉族。以间断头痛、头昏20余年,加重伴全身抽搐发作6年为主诉入院。病人全身抽搐发作时丧失意识,口吐白沫,持续约2～3min后自行缓解,每月发作3～5次不等。入院时体检:神志清楚,脑神经未见异常,四肢肌力、肌张力正常,生理反射存在,未引出病理征。头颅平片示颅内3根针状长短不等的金属异物,位于额顶部近中线处(图1)。计算机体层摄影(CT)扫描见2根金属异物位于脑中线上,1根偏一侧,其中1根最长者深达侧脑室前角(图2)。入院诊断:①颅内金属异物(3根针状);②继发性癫痫。于1997—03—02行CT脑立体定向颅内异物摘除术,采用驹井式CT脑立体定向仪,常规安装头圈,行CT扫描定位,以3根针最外端(靠近脑皮质端)为手术目标点,分别计算出三维座标值。然后在导向器指导下行小范围开颅手术,局麻下以距3