僵人综合征伴侵袭性胸腺瘤、天疱疮和重症肌无力一例

临床资料 患者女性,57岁,因"双下肢发紧、乏力、容易跌倒11年,四肢无力1年,加重伴轻微憋气1个月"于2008年10月就诊.早期无明显晨轻暮重,紧张和生气时下肢发紧加重,感僵直且因此跌倒,严重时面部和腹部肌肉也有僵直感,放松和睡眠时减轻.症状逐渐加重.6年前行神经传导和针极肌电图检查未见异常.4年前当地医院以"肌张力异常"予多巴胺治疗无效.     

散发性重症肌无力患者267例维生素D受体基因多态性

目的 探讨中国汉族人维生素D受体(VDR)基因Fok Ⅰ和Apa Ⅰ位点多态性与重症肌无力(MG)的关系.方法 采用聚合酶链反应-限制性内切酶片段多态性(PCR-RFLP)法检测VDR基因Fok Ⅰ和Apa Ⅰ位点的多态性,比较基因型和等位基因在健康对照组及各MG亚组中的分布,并观察其与MG严重程度和激素短期疗效的关系.结果 Fok Ⅰ和Apa Ⅰ位点的基因型和等位基因频率在MG组和对照组间以及MG各亚组间的分布差异无统计学意义.Fok Ⅰ位点的基因型和等位基因频率在激素短期疗效好和疗效差组间的分布差异亦无统计学意义;但Apa Ⅰ位点的A等位基因频率在两组间差异有统计学意义,疗效好者(55/186,29.6%)高于疗效差者(7/48,14.6%,OR=2.46,95%CI 1.04～10 43,x2=4.400,P=0.036);激素短期疗效好者中携带基因型AA及Aa的频率(48/93,51.6%)高于疗效差者(7/24,29.2%,OR=2.59,95% CI 0.98～14.60,x2=3.858,P=0.049).结论 在我国汉族人散发性MG患者的VDR基因中,未发现Fok Ⅰ和Apa Ⅰ变异位点显著增加MG的患病风险,但携带Apa Ⅰ位点的A等位基因的MG患者激素短期疗效可能较好.

Abstract：

Objective To explore the associations between vitamin D receptor ( VDR) Fok- Ⅰ and Apa- Ⅰ polymorphisms and myasthenia gravis (MG) in Chinese Han population.Methods Polymorphisms of VDR Fok- Ⅰ and Apa-Ⅰ were determined by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) method.The frequencies of genotypes and hyplotypes were compared among 286 normal controls and 267 MG patients in different subgroups classified by gender,age of onset,presence of thymoma,and Osserman classification sat maximal severity in the follow-up.The association between the genotypes and maximal severity of MG and short-term glucocorticoid treatment were also investigated.Results There were no significant differences in frequencies of genotypes and hyplotypes of both Fok-Ⅰ and Apa-Ⅰ between MG group and control group,and among subgroups of MG.The Fok- Ⅰ showed no statistical difference between the patients with better and less improvement after short-term treatment of glucocorticoid.The frequency of Apa-Ⅰ alleles in the patients with better improvement (55/186,29.6% ) significantly differed from the less improved group ( 7/48,14.6%,OR = 2.46,95% CI 1.04-10.43,x2 = 4.400,P = 0.036).The patients with the genotype A A/Aa were more likely to improve better after the treatment(48/93,51.6%) than in the worse group(7/24,29.2%,OR =2.59,95% CI 0.98-14.60,x2 =3.858,P= 0.049).Conclusions Alleles and genotypes of VDR-Fok- Ⅰ and Apa-Ⅰ were not found to be related with MG onset and severity.MG patients with VDR-Apa-A allele may have better improvement short-term treatment of glucocorticoid.     

雌激素在缺血性脑卒中的作用

正脑卒中是影响人类生命健康的重要疾病之一,其中缺血性脑卒中占绝大部分,流行病学研究发现,绝经前女性缺血性脑卒中的发病率明显低于同年龄的男性,但是随着女性绝经期的到来,女性缺血性脑卒中的发病率开始增加,且预后往往更差[1],其原因不仅仅是因为年龄或者危险因素的改变,更多的是由于绝经后女性体内雌激素水平的下降而引起的神经保护作用缺失[2]。近年来,雌激素对缺血性脑卒中的作用越来越受到人们的重视,现就近年来雌激素在缺     

B细胞活化因子(BAFF)基因rs9514828多态性与重症肌无力的关系

目的 探讨B细胞活化因子(BAFF)基因rs9514828多态性与重症肌无力(MG)的关系.方法 采用聚合酶链反应-限制性内切酶片段长度多态性(PCR-RFLP)技术对168例MG患者和142例正常对照组进行基因分型,比较基因型和等位基因在MG患者与健康人群中及各MG亚组的分布,并观察与激素短期疗效的关系.结果 rs9514828位点的基因型及等位基因频率在MG患者及健康人群及各MG亚组中分布的差异无统计学意义(P>0.05).rs9514828位点基因型和等位基因频率与发病后1年内临床分型是否由眼肌型进展为全身型无关(P>0.05).不同激素短期疗效的MG患者rs9514828位点的基因型及等位基因频率的差异无统计学意义(P>0.05).结论 BAFF基因rs9514828位点多态性与MG疾病的易感性及激素短期疗效无显著的相关性.