Chromosome mapping of Rett syndrome: a likely candidate region on the telomere of Xq.

Rett syndrome (RS) is a disease of neurological development. First reported 30 years ago in 1966, its biological and genetic basis remains obscure. RS is commonly thought of as an X linked dominant disorder lethal to hemizygous males. The few familial cases would arise through mosaicism or because of occasional females failing to manifest the disorder through skewed X inactivation in relevant cell types. We have one family where the mother and daughter are affected with RS, and which can be explained according to this hypothesis. If the alternative proposal of Thomas (1996) is correct, that the lack of males affected by such disorders is the result of a high male to female ratio of germline mutations rather than of gestational lethality, then the RS gene should be located on the grandpaternal chromosome. Genomic screening with markers covering the whole X chromosome has been performed. Studies using multiple informative markers indicate that the RS locus is likely to be located close to one of the X chromosome telomeres. Further investigations in eight additional families suggest the most likely region for the RS gene to be is the distal part of Xq (Xq28).     

人体膀胱移行上皮癌细胞系(TSB-90,TSB-91)的建立及其生物学特性

从1例膀胱癌患者的癌组织培养中，分离得到2个不同生长特性的悬浮生长型细胞系，定名为TSB-90和TSB-91。在培养过程中，对其生物学特性进行了细胞和亚细胞水平的探讨，并进行了核型分析。发现2个细胞系核型的演化趋势有明显差异，生物学特性也不尽相同。这可能与膀胱癌组织中细胞的遗传异质性和分化程度有关。对其机制和细节有待进一步深入研究。     

神效止痛膏的镇痛作用

用二甲苯所致的急性炎症模型观察了神效止痛膏的抗急性炎症作用．用扭体法、热板法观察了神效止痛膏对小鼠的镇痛作用．结果表明，神效止痛膏有很好的镇痛作用．     

角膜溃疡穿孔的修复与修复材料的选择

总结２１例用不同材料修复角膜穿孔的病例，修复材料分别为结膜瓣、硅胶板、断层自体皮片和同种异体角膜。结膜瓣遮盖仅２／３保存眼球，愈合后视力差，并发症多；硅胶板可在穿孔大、情况紧急时作暂时封孔保存眼球之用；自体断层皮片术后不久即溶解，角膜移植者７眼中６眼保存了眼球，且有５例植片透明，视力０．１以上。     

税改"接力"亟待加速--对话无锡市卫生局局长王爱国

不是医院老板,也不是税务局官员,但心忧民营医院运势的王爱国对“税改”的企盼似乎更为迫切。     

心律失常运动员心输出量的研究

近年来由于训练强度不断增大,高水平运动员心律失常的发生率显著增加。本文研究资料表明,男心律失常组安静时心搏量明显大于正常组(P<0.05),而运动后心搏量降低(正常组心搏量增加),说明心律失常的运动员心脏储备能力差,心脏泵血功能降低,应予慎重对待。     

应用低严格度—单引物聚合酶链反应对问号钩体中国参考株的…

Ｇ１、Ｇ２引物是对问号钩体具有特异性引物。分别用Ｇ１或Ｇ２单引物对问号钩体中国参考株进行前４个低严格度循环的ＰＣＲ扩增，扩增带谱显示赖型、犬型、致热型、秋季型、澳洲型、临海型、乌尔夫型、溶血型为一类，而爪哇型、拜伦型、波摩那型、七日热型、巴叶赞型塔拉索夫型、曼耗Ⅱ型是不与以上赖型等血清型本为一类，双曲钩体ａｔｏｃ型及伊利尼细丝体伊利尼型的扩增带谱与问号钩体截然不同。应用苯酚法提取的高纯度钩体ＤＮＡ     

Fictive oesophageal peristalsis evoked by activation of muscarinic acetylcholine receptors in rat nucleus tractus solitarii

The aim of the present study was to determine if muscarinic acetylcholine receptor-mediated peristaltic rhythmogenesis in the rat oesophagus is a central motor program that can be generated without peripheral sensory support. In anaesthetized male Sprague-Dawley rats, pressure-ejection of glutamate (10–20 pmol) and muscarine (5–10 pmol) in the subnucleus centralis of the nucleus tractus solitarii (NTS_C) evoked monophasic pressure waves and rhythmic oesophageal peristalsis, respectively, but did not change mean arterial blood pressure or respiration. Application of muscarine (50–100 pmol) to the NTS extraventricular surface evoked rhythmic multi-unit burst discharges in the compact formation of the nucleus ambiguus (AMB_C) that led to oesophageal peristalsis in a phase-locked manner. Evoked rhythmic AMB_C activity persisted during neuromuscular blockade with curare, although the peak frequency of individual bursts was decreased. In a brainstem slice preparation, intracellular and whole cell patch recordings from AMB_C neurones during focal stimulation of the NTS_C region with muscarine revealed rhythmic depolarizing waves that showed a pattern similar to that of rhythmic oesophageal peristalsis. The present findings support the concept that medullary circuits comprising premotor neurones of the NTS_C are intrinsically capable of generating rhythmic oesophagomotor output, but are subject to a powerful modulation by peripheral sensory feedback.     

中枢神经系统白血病血清神经元特异性烯醇酶测定的临床意义

目的 探讨血清神经元特异性烯醇酶与中枢神经系统白血病之间的关系。方法 对确诊的30例急性白血病患者及匹配的正常人的血清神经元特异性烯醇酶进行测定。结果 中枢神经系统白血病组血清神经元特异性烯醇酶含量21．92 7．5μg/L均明显高于白血病组、对照组，差异有显著性。结论 血清神经元特异性烯醇酶可作为反映中枢神经系统白血病病情的生化指标。