Prenatal diagnosis of cystinosis utilizing chorionic villus sampling

The prenatal diagnosis of cystinosis is currently based on the increased amount of free-cystine present in amniotic fluid cells. Amniocyte cultures must be grown for at least 2 weeks to obtain sufficient cells for such measurements. Thus, the diagnosis cannot be made until close to 20 weeks gestational age by this method. We report a case in which chorionic villi were used for direct cystine measurement resulting in the in utero diagnosis of cystinosis at 9 weeks gestational age. The diagnosis was confirmed by the study of cultured chorionic villus cells, and of the 10-week abortus.     

The importance of chorionic villus sampling after first trimester diagnosis of cystic hygroma

The prenatal diagnosis of The Turner Syndrome is described at a menstrual age of 12 weeks. Detection of cystic hygroma was followed by vaginal chorionic villous sampling (CVS) which revealed a 45,X karyotype. Early documentation of fetal karyotype in the presence of a cystic hygroma is essential for accurate diagnosis and genetic counselling.     

北大西洋区域的环境变化:SCANNET作为记载、认识和预测变化的合作途径

北大西洋周边区域(SCANNET区域)涵盖了广泛的气候区、自然环境和可用自然资源范围.除了最北部地区,至少自最后一次冰期结束以来,这里就有人和多种文化存在.然而,该区在大的地理尺度上也是非常重要的,因为它影响着全球气候并支撑着在北极地区和世界其它大陆之间迁徙的动物.这一区域的气候、环境和土地利用正在发生急剧变化,预测显示,全球变暖在这里的表现会更强,而土地利用的增加会使剩余的野地急剧减少.因为本区大部分地方人口稀疏(如果有人居住的话),过去环境变化及其影响方面的观测记录也都是很少而且时段很短的.然而,记录现在正在进行的变化、认识这些变化的驱动力和预测这些变化的后果变得非常重要了.为了促进认识全球变化对北大西洋区域陆地的影响的研究,同时也为了实时监测这种变化,2000年欧共体资助成立了一个研究站点网络及其下设机构,命名为SCANNET--斯堪的纳维亚(半岛)(瑞典、挪威、丹麦、冰岛的泛称)/北欧陆地野外基础网络.SCANNET目前包括9个核心站及当地网络里面的5个站,它们一起覆盖了该区当前气候和预测的变化的广泛区域.气候指标在网络内部是共同的,而每个站点都选择特殊的环境和生态主题进行精细观测.这既保证了主题覆盖面的多样性又保证了专门技术的多样性.我们总结了SCANNET到目前为止的发现,并概述其资料基础,以增加对北大西洋环境变化数据的了解.同时我们也总结我们在理解方面的重要缺陷以及SCANNET已经存在机构和行动在促进今后的研究、监测和野外实证行动方面的作用.     

Online-Patentrecherchen — schnelle Antworten auf kritische Fragen

Online searching in publically available patent files opens up interesting possibilities to provide a rapid response to critical questions. A computerized analysis of all patents of leading German pharmaceutical companies over the last decade in important indication areas is described. Supported by subsequent manual processing of individual patents it is shown that duplicate experiments on animals practically never occur.     

Predator odour and its impact on male fertility and reproduction in Phodopus campbelli hamsters

 This study investigated the influence of cat urine odour in suppressing development and fertility in Campbell's hamster males. Exposure to this odour from postnatal day 11 until day 45 (sexual maturation) resulted in reduced sex organ weights, reduced testosterone levels and in an increase in abnormalities of the synaptonemal complex in both sex chromosomes and autosomes. Subsequent breeding experiments revealed a significant decrease in litter size. All these data indicate a severe effect of predator odour on the breeding success of potential prey species. It is assumed that these effects are caused by the sulphurous compounds in the urine; however, the underlying mechanisms are not yet known. Received: 31 January 2000 / Accepted in revised form: 6 June 2000