国人无综合征性耳聋患者的线粒体基因组7445A→G突变263例调查

目的 :探讨国人无综合征性耳聋 ( NSD)患者的线粒体 DNA 744 5 A→ G( m t DNA744 5 A→ G)突变的发生情况。方法 :对 32个 NSD家系 12 8例和 135例散发的 NSD患者 ,10 0例正常人 ,以 PCR法检测 mt DNA 744 5 A→ G突变情况。结果 :全部受检者无 mt DNA744 5 A→ G突变发生。结论 :国人 NSD患者的 m t DNA744 5 A→ G突变的发生率较低 ,且明显低于 mt DNA15 5 5 A→ G的突变发生率     

遗传性无综合征耳聋一家系畸变产物耳声发射测试

目的　探索遗传性进行性无综合征耳聋患者的听功能改变特点。方法　一个常染色体显性遗传进行性无综合征耳聋家系 5 2名成员及听力正常组 15名 ,进行了纯音测试及畸变产物耳声发射 (distortionproductotoacousticemissions,DPOAE)测试。结果　无综合征耳聋家系中 34名成员纯音测试为感音神经性聋 ,其中纯音听阈均值 (puretoneaverage ,PTA)≥ 40dB的 15例 (2 9耳 )DPOAE反应缺失 ,PTA≤ 35dB伴高频下降的 12例 (2 3耳 )DPOAE高频或高、中频振幅下降或缺失 ;2 1名 (42耳 )纯音听阈正常成员中 ,有 12例 (15耳 )DPOAE高频或高、中频振幅下降或缺失。结论　DPOAE能鉴别出耳蜗亚临床的病理改变 ,对该病的早期诊断 ,遗传咨询有指导意义。     

舰艇环境对舰员心理功能和神经行为的影响

探讨封闭型舰艇环境对舰员心理功能和神经行为的影响。方法 采用微机化神经行为评价系统和症状自评量表对封闭型水面舰艇舰员进行了测试,并以开放型水面舰艇舰员为对照。结果 封闭型舰艇人员符号译码成绩明显低于开放型舰艇人员,并出现类似“空调病”的症状。结论封闭型舰艇环境能危害舰员的心理健康,负离子浓度低为重要的环境因素,应改进通风。     

A method for identifying comparison counties: application to a rural telemedicine evaluation project

The evaluation of telemedicine activity in rural communities is complicated by the fact that most telemedicine sites are chosen because of their existing telecommunications infrastructure and institutional relationships, not by a random selection process. In addition, it is difficult to draw conclusions about the effects of telemedicine without a careful analysis of parallel changes in communities which do not have access to telemedicine services. We have developed a method of identifying comparable counties based on an aggregate measure of health status. A set of 66 variables was collected in a previous project to develop a model to evaluate the relative health status of the population in Missouri. A stepwise regression was used to identify a subset of 15 variables that had the highest predictive value for the health status of a county. Distance measures were then used to identify six counties which were most similar to three telemedicine counties. The method can be used with any study set chosen non-randomly, to identify similar objects that can be used for comparative purposes.     

人类白细胞抗原B27亚型基因与急性前葡萄膜炎的相关性研究

目的 探讨人类白细胞抗原B27亚型基因与急性前葡萄膜炎(acute anterior uveitis,AAU)易感性的关系。 方法 对49例临床确诊的AAU患者,通过聚合酶链反应(polymerase chain reaction, PCR)特异性扩增技术检测B27;以B27阳性者的DNA为模板对其人类白细胞抗原HLA-B的第二、三外显子片段扩增。采用DNA测序技术对扩增产物做基因序列分析,经计算机处理获得受检者HLA-B27亚型的信息。 结果 受检者中29例为B27阳性,占59.39%,其中仅发现B2704(13例,占44.00%)和B27052(16例,占56.00%)二种亚型基因携带者。二者间多数临床表现差异不大,但携带B27052基因的AAU患者伴发强直性脊柱炎(ankylosing spondylitis, AS)的人数(7人,占24.24%)显著高于B2704基因携带者(1人,占3.74%)。 结论 B2704和B27052单独的亚型特异性与AAU无易感性关联;但B27052基因可能与并发AS有关。 (中华眼底病杂志, 1999, 15:139-142)     

Regional neural dysfunctions in chronic schizophrenia studied with positron emission tomography

OBJECTIVE: Whether chronicity of illness produces progressive neural abnormality is an important question in current schizophrenia research. Positron emission tomography (PET) offers an opportunity to visualize and measure blood flow in vivo to address this issue. The authors previously compared healthy volunteers with neuroleptic-naive patients experiencing their first episode of schizophrenia and reported that abnormalities in blood flow, including lower flow in prefrontal regions and higher flow in the thalamus and cerebellum, are present at the early stage of schizophrenic illness. The goal of the present study was to measure blood flow with PET in patients with chronic schizophrenia. METHOD: PET was used to examine regional cerebral blood flow (rCBF) in 30 patients with chronic schizophrenia and 30 normal comparison subjects. To determine if the patterns of flow abnormality in the patients with chronic schizophrenia were similar to those of patients experiencing their first episode of schizophrenia, the same cognitive condition was examined as in the earlier study. The patients with chronic schizophrenia in the current study had been neuroleptic-free for at least 3 weeks. RESULTS: As in the authors' previous study, the chronically ill patients showed lower flow in prefrontal areas and higher flow in thalamic and cerebellar regions than normal comparison subjects, suggesting that a similar neural dysfunction occurs in both first-episode and chronic schizophrenia. CONCLUSIONS: rCBF abnormalities in patients with chronic schizophrenia are not due to chronicity of illness or the effects of medication. These results provide evidence that the primary neural abnormalities in schizophrenia may occur in cortical, cerebellar, and thalamic regions and that the dysfunction in these regions may explain the "loosening of associations" that Bleuler considered to be the fundamental cognitive phenotype of schizophrenia. These abnormalities can be reconceptualized as "cognitive dysmetria."     

反相高效液相色谱法测定塞来昔布片含量

目的 :建立反相高效液相色谱法测定塞来昔布片的含量。方法 :采用ZorbaxSB -C18色谱柱 ,以 0 .0 2mol·L-1磷酸二氢钾缓冲液 (pH5 .8) 乙腈 (4 5 :5 5 )为流动相 ,流速为 1.0mL·min-1,以 5 甲基 2 硝基苯酚为内标物 ,检测波长为 2 5 2nm。结果 :塞来昔布在 10 .2～ 5 0 .1mg·L-1范围内呈良好线性 (r =0 .9998) ,平均回收率为 99.8% ,RSD为 0 .35 %。结论 :本法可用于该片的含量测定 ,操作简便 ,结果准确。     

反义寡核苷酸的化学修饰

反义技术是近20年来发展的一种全新的药物设计方法。本文就近几年来反义寡核苷酸在化学修饰方面，包括骨架修饰、糖环修饰、碱基修饰等的最新发展进行了综述。