皮质发育障碍模型的建立及其致痫敏感性的研究

目的:建立皮质发育障碍模型,探讨皮质发育障碍模型的敏感性。方法:在SD大鼠孕17d腹腔注入1,3-二氯乙烯-亚硝基脲(BCNU)制作皮质发育障碍模型;Nissl染色观察P60d仔鼠病理变化;选取P60d雄性仔鼠,腹腔注射氯化锂-毛果芸香碱,分别比较两组大鼠癫发生的潜伏期、持续状态时间和死亡率。结果:同龄仔鼠脑组织湿重实验组比对照组显著减轻(P<0.01);Nissl染色显示皮质变薄、皮质层次紊乱、海马区域异位细胞异常聚集;有皮质发育障碍的仔鼠注射氯化锂-毛果芸香碱后,癫发生的潜伏期显著缩短(P<0.01),癫持续状态时间延长(P<0.01),死亡率显著升高(P<0.05)。结论:BCNU致皮质发育障碍模型具有癫易感性。     

高钙预处理对未成熟心肌的保护作用机制

目的 探讨高钙预处理对未成熟心肌保护作用及其可能的机制。方法 采用Langendorff离体心脏灌注模型，24只新生日本长耳大白兔分为对照组（I／R），高钙预处理（HCP）组，多黏菌素B（PMB）组和5-hydroxydecanoate（5-HD）组4组，分别行不同的处理方法。以血流动力学指标、生化指标和心肌超微结构作为观察指标。结果 HCP组心功能恢复优于I／R、PMB和5-HD组（P〈0．05），心肌生化指标优于I／R、PMB和5-HD组（P〈0．01），心肌超微结构损伤较I／R、PMB和5-HD组明显减轻，各指标I／R、PMB和5-HD组间差异无统计学意义（P〉0．05）。结论 高Ca^2＋预处理对未成熟心肌具有明显的保护作用，其机制是可能是通过蛋白激酶C激活和线粒体ATP敏感性钾通道开放起作用。     

Spinocerebellar ataxia types 2 and 3 segregating simultaneously in a single family.

Spinocerebellar ataxia (SCA) types 2 and 3 are autosomal-dominant neurodegenerative disorders caused by mutations in two different genes. We identified mutations for SCA2 and SCA3 segregating simultaneously in a single Brazilian family. The index patient had SCA2, whereas her two second-degree cousins had SCA3. Disease was more rapidly progressive in the SCA2 patient, who presented severe brainstem and pancerebellar atrophy, as opposed to the two SCA3 patients, who had only mild cerebellar vermian atrophy. In such situations, molecular confirmation of all patients may avoid misdiagnosis of SCA subtypes and eventual errors in predictive testing of unaffected family members.     

MPO和NAT2基因多态性与成人急性白血病易感性

目的研究髓过氧化物酶（MPO）和N-乙酰基转移酶2（NAT2）基因多态性与成人急性白血病易感性的关系.方法用1∶1配对病例-对照研究方法,收集成人急性白血病患者和对照各139例,应用聚合酶链-内切酶片段（PCR-RFLP）方法分析病例组和对照组MPO和NAT2的基因多态性,比较不同基因型与成人急性白血病易感性.结果 MPO-463A等位基因分布频率病例组低于对照组,MPO（G-463A）各基因型在病例组与对照组中的分布差异有统计学意义（χ^2=7.026,P〈0.05,OR=0.505,95%CI=0.325～0.847）.NAT2乙酰化表型频率在病例组与对照组的分布差异无统计学意义（χ^2=2.260,P〉0.05）;但NAT2＊5 481T等位基因和NAT2＊6 590A等位基因分布频率病例组高于对照组（P〈0.05）.结论 MPO与成人急性白血病易感性相关,携带MPO（G-463A）突变基因型（GA/AA）个体可降低白血病的发病风险;NAT2乙酰化表型可能与白血病的易感性无关,但NAT2＊5（C481T）、NAT2＊6（G590A）单核苷酸突变频率病例组明显高于对照组.     

European Committee on Antimicrobial Susceptibility Testing (EUCAST) Technical Notes on antimicrobial susceptibility testing

The main objectives of the European Committee on Antimicrobial Susceptibility Testing (EUCAST) are to harmonise breakpoints for antimicrobial agents in Europe, and to act as the breakpoint committee for the European Medicines Agency (EMEA) during the registration of new antimicrobial agents. Detailed EUCAST procedures for harmonising and setting breakpoints for antimicrobial agents are available on the EUCAST website. Beginning with the current issue, a series of EUCAST Technical Notes will be published in CMI, based on the rationale documents produced by EUCAST for each of the antimicrobial agents studied, with the aim of highlighting important background information underlying decisions on breakpoints made by EUCAST.     

碱性成纤维细胞生长因子对慢性鼓膜穿孔愈合的影响

目的 :探讨碱性成纤维细胞生长因子 (bFGF)在慢性鼓膜穿孔愈合中的作用。方法 :在豚鼠慢性创伤性鼓膜穿孔的动物模型上 ,观察应用bFGF 磷酸缓冲液 (2 5 0mg/L)治疗的鼓膜愈合率 ,用组织学检查鼓膜中层厚度 ,并与仅用磷酸缓冲液 (PBS)处理的作对照。结果 :bFGF治疗组鼓膜愈合率明显高于PBS组 (89.3%vs 37.5 % ,P <0 .0 1) ;鼓膜中层厚度bFGF组显著高于PBS组 [(30 5± 37) μmvs (10 2± 2 1) μm ,P <0 .0 1]。结论 :局部应用bFGF有明显促进慢性鼓膜穿孔鼓膜中层厚度及上皮细胞增生 ,促进鼓膜愈合的作用。     

药用胶带纸层厚度检测系统

设计并试制了一种药用胶带纸层厚度在线检测系统．该系统将高精度电容传感器与计算机结合起来，同时配有丰富的外围器件，实现了多种实际生产中所需要的功能．它的出现，彻底解决了药用胶带纸胶层厚度在线检测这个难题，经过两年多的实际应用的检验，该系统实现了在线非接触测量，精度高，动态性能好，实现功能全面，价格合理，是药用胶带纸生产的必备检测仪器．由于该系统还可以很方便在纸张、塑料薄膜等其它生产线上进行推广，因而，其应用前景十分看好．     

Etiological heterogeneity in Hodgkin's disease: HLA linked and unlinked determinants of susceptibility independent of histological concordance

Forty-one multiplex families, from published sources and new data from the National Cancer Institute, segregating for Hodgkin's disease and HLA, have been studied. A reanalysis of these data strongly suggests a recessive mode of inheritance for susceptibility to Hodgkin's disease. The HLA haplotype sharing data between affected relatives demonstrate that approximately 60% of cases in multiplex families are due to an HLA-linked susceptibility gene, the remaining 40% being due to other familial factors. The data clearly support the hypothesis of etiological heterogeneity for Hodgkin's disease, with both HLA-linked and HLA-unlinked factors being responsible. Finally, there is an increased concordance of histological types between affected relatives, but this concordance seems independent of HLA sharing.     

Factors influencing the variations of ejection fraction during exercise in chronic aortic regurgitation

The influence of left ventricular volume variations and regurgitant fraction variations upon left ventricular ejection fraction, during exercise was examined using equilibrium radionuclide angiography in patients suffering from aortic regurgitation. Ejection fraction (EF), regurgitant fraction (RF), end diastolic volume (EDV) and end systolic volume (ESV) variations from rest to peak exercise were determined in 44 patients suffering from chronic aortic regurgitation (AR) and in 8 healthy volunteers (C). In C, EF increased (+0.10±0.03, P<0.01) and ESV decreased significantly (-23%±12%, P<0.01) RF and EDV did not vary significantly. In AR patients, EF, EDV and ESV did not vary significantly because of important scattering of individual values. Changes in EF and ESV were inversely correlated (r=-0.79, P<0.01) and RF decreased significantly (-0.12±0.10, P<0.01). Volumes and EF changes during exercise occurred in three different ways. In a 1st subgroup of 7 patients, EF increased (+0.09±0.03, P<0.05) in conjunction with a reduction of ESV (-24%±12%, P<0.05) without a significant change in EDV. In a 2nd group of 22 patients. EF decreased (-0.04±0.07, P<0.01) in association with an increase in ESV (+17%±16%, P<0.01) and no change in EDV. In a 3rd subgroup of 15 patients, EF decreased (-0.02±0.06, P<0.01) despite a reduction in ESV (-7%±6%, P<0.01) because of a dramatic EDV decrease (-10%±6%, P<0.05). In this subgroup, changes in EF were inversely correlated with changes in ESV (r=-0.55, P<0.01) and positively related to EDV variations (r=0.42, P=0.02). EDV related to EDV variations (r=0.42, P=0.02). EDV changes were weakly, but significantly, correlated to RF decrease (r=0.39, P<0.05). We conclude that changes in left ventricular ejection fraction during exercise in patients with chronic aortic regurgitation are significantly related in some patients to changes in ventricular loading conditions as well as contractile state. Therefore, a correct interpretation of EF changes during exercise requires the simultaneous determination of changes in LV volumes.Abbreviations EDV end diastolic volume - EF ejection fraction - ESV end systolic volume - LV left ventricle - RV right ventricle     

Discussing options between patients and health care professionals in genetic diagnosis: ethical and legal criteria

The specific characteristics of genetic data lead to ethical-legal conflicts in the framework of genetic diagnosis. Several international organisations, including UNESCO and the Council of Europe, have enacted rules referring to the use of genetic information. This paper discusses possible legal and ethical criteria that could be used in genetic testing.