载脂蛋白E基因多态性与脑梗死的相关性分析

目的　探讨载脂蛋白 E基因多态性与脑梗死的关系。方法　通过聚合酶链反应 -限制性片段长度多态性 (PCR- RFL P)分析结合 DNA直接银染技术检测 6 6例脑梗死 (CI)患者的载脂蛋白 E(Apo E)基因型 (其中家系中有明确脑梗死先证者的家族聚集性脑梗死 (FMACI)亚组 2 6例 ,家系中无脑卒中史的非家族聚集性脑梗死 (NF-MACI)亚组 4 0例 ) ,并与 90例健康对照组比较 ,同时检测血脂、脂蛋白 (a) [L P(a) ]及部分载脂蛋白。结果　脑梗死组ε3/4基因型频率明显高于对照组 (P<0 .0 1) ,ε3/3基因型频率明显低于对照组 (P<0 .0 1) ;两脑梗死亚组之间的ε3/4/ε3/3基因型频率虽有上升 /下降趋势 ,但未发现明显的统计学差异 ;FMACI组高密度脂蛋白 (HDL )水平明显低于 NFMACI组 (P<0 .0 5 )。结论　 Apo E基因多态性与脑梗死的发生有关 ,ε4等位基因是脑梗死的易感因子 ,ε3等位基因对脑梗死的发生有保护作用 ;Apo E基因多态性和 HDL水平双重作用于家族聚集性脑梗死的发生。     

贝那普利降压疗效与校正QT间期的关系

目的探讨原发性高血压患者心电图心率校正QT间期(QTc)和贝那普利降压疗效之间的关系.方法采用前瞻性队列研究方法调查安徽A县899名高血压病患者的基线心电图、治疗15 d前后的血压变化及相关临床和流行病学特点等情况.结果 QTc和血压下降呈负相关.QTc每增加0.1秒1/2,收缩压和舒张压的下降值分别减少3.6 mmHg和3.3 mmHg,且差异均有显著性(P＜0.05).将QTc三等分后,随着QTc等分的增加,收缩压和舒张压的下降值均逐渐减少,且差异具有显著性(P＜0.05);将QTc等分后的变量放入方程中进行趋势性分析,发现在收缩压和舒张压组中的负相关关系具有显著性(P＜0.05).随着QTc等级的增加,舒张压有效率逐渐降低,且有显著性差异(P＜0.05),收缩压的效应关系不如舒张压明显.结论 QTc和贝那普利降压疗效呈负相关,对贝那普利短期降压疗效具有重要的预测价值.     

替米沙坦治疗原发性高血压的疗效和安全性

目的 :观察替米沙坦治疗原发性高血压的疗效和安全性。方法 :进行随机、双盲、双模拟、平行分组对照试验。符合条件的轻中度高血压患者随机分为 2组 :替米沙坦组和氯沙坦组。每天一次口服替米沙坦 40mg或氯沙坦 5 0mg ,每 2周随访 1次。 4周后 ,如患者舒张压 (DBP)≥ 90mmHg则增加剂量 ,每天一次口服替米沙坦 80mg或氯沙坦 10 0mg。治疗前后分别查心电图 ,血、尿常规 ,血生化检查和常规查体。 结果 :(1)治疗 8周末 ,替米沙坦组和氯沙坦组患者的DBP均显著降低 ,2组下降幅度相似 (11.9mmHgvs 10 .4mmHg) ;(2 )治疗8周末 ,替米沙坦组收缩压 (SBP)下降幅度稍大于氯沙坦组 (9.5mmHgvs 6.2mmHg) ;(3 )替米沙坦降压有效率为 83 .3 % ,稍高于氯沙坦组 69.2 % ,无统计学差异 ;(4 ) 2组的不良事件发生率相似 (替米沙坦组 3 3 .3 % ,氯沙坦组 3 4.6% )。最常见的不良事件是头晕、头痛 ,多为轻度 ,可迅速缓解。结论 :替米沙坦 40mg～ 80mg ,每天一次口服治疗轻中度高血压安全有效     

Season of birth interacts with measures of inbreeding in multiplex schizophrenia pedigrees: evidence from genetic isolates in Daghestan

While the season-of-birth effect is one of the most consistent epidemiological features of schizophrenia, there is a lack of consistency with respect to the interaction between season of birth and family history of schizophrenia. Apart from family history, measures related to consanguinity can be used as proxy markers of genomic heterogeneity. Thus, these measures may provide an alternate, indirect index of genetic susceptibility. We had the opportunity to explore the interaction between season of birth and measure of consanguinity in well-described genetic isolates in Daghestan, some of which are known for their relatively high prevalence of schizophrenia. Our previous population-genetic study showed Daghestan has an extremely high genetic diversity between the ethnic populations and a low genetic diversity within them. The isolates selected for this study include some with more than 200 and some with less than 100 generations of demographical history since their founding. Based on pedigrees of multiply-affected families, we found that among individuals with schizophrenia, the measure of consanguinity was significantly higher in the parents of those born in winter/spring compared to those born in summer/autumn. Furthermore, compared to summer/autumn born, winter/spring born individuals with schizophrenia had an earlier age-of-onset, and more prominent auditory hallucinations. Our results suggest that the offspring of consanguineous marriages, and thus those with reduced allelic heterogeneity, may be more susceptible to the environmental factor(s) underpinning the season-of-the effect in schizophrenia.     

豚鼠爆震性聋耳蜗结构与功能的动态变化

目的 探讨爆震性聋与耳蜗损伤之间的关系。方法 通过畸变产物耳声发射及扫描电镜进行研究。结果 豚鼠爆震后即刻出现听阈的提高，与爆震前相比，DPOAEs幅值于1kHz处开始出现非常显著的减低（P〈0．05），在8kHz处两者的差值更大（P〈0．05），DPOAEs幅值随频率升高而逐渐下降，以高频段更为严重。爆震后20天DPOAEs幅值在0．5、0．7、1kHz处基本恢复至爆震前水平，在1．5—8kHz处较爆震后即刻明显提高，但仍低于爆震前水平（各频率均P〈0.05）。爆震后40天DPOAEs幅值与爆震后20天无明显改变（各频率均P〉0．05）。扫描电镜下见豚鼠爆震后即刻出现IHC纤毛排列紊乱，第一排OHC形态基本正常，第二排OHC部分纤毛扭曲或倒伏，尚可看到鸟翼状结构，第三排OHC倒伏、分散，部分折断；20天组IHC纤毛排列仍然紊乱，第一排OHC纤毛基本正常，第二、第三排OHC纤毛排列极度扭曲，以第三排更为严重，少数OHC溶解变性，空位由支持细胞取代；40天组与20天组无明显差别。结论 爆震性聋出现耳蜗HC结构改变及功能减退，提示耳蜗损伤与爆震性聋紧密相关。     

Polymorphic distribution of Y-chromosome haplotype and mitochondrial DNA in the Bouyei people in China

In the evolution of humans, many kinds of mutations in the human genome have been accumulated, providing credible genetic evidence for the study of human origins and migrations. The "out-of-Africa" hypothesis of modern human evolution and the genetic origin of the Japanese has come about by studying mitochondrial DNA.l,2 Recently, researchers have recognized the power of Y-chromosome markers in resolving migratory patterns of modern humans as more and more Y-chromosome single nucleotide polymorphism markers have been found. The markers on the nonrecombinant part of the Y-chromosome allows for the reconstruction of intact haplotypes which are probably the best genetic tools to study human migrations. We can analyze the paternal history of some people in different areas by Y-chromosome haplotypes.     

富血小板血浆与骨再生

急性臂丛神经炎是一种少见病,但人们往往认识不足,在早期,易被误诊为神经根型颈椎病或胸廓出口综合征。为了提高对本病的认识,降低误诊和漏诊率,本文就急性臂丛神经炎的诊断、鉴别诊断与治疗进行综述。1诊断名词与病因急性臂丛神经炎,病因尚未明了,但却有典型的临床特征。最初由Parsonage等[1]和Turner等[2]报道为肩胛带综合征和麻痹性臂丛神经炎,后被称之为:Parsonage-Turner综合征。其他诊断名词有:急性臂丛神经炎,神经源性肌萎缩,术后原发性臂丛神经炎等[3,4]。