Novel mutations in the human CYP21 gene

The great majority of genetic defects underlying steroid 21-hydroxylase deficiency appear to result from intergenic recombinations between the homologous CYP21 and CYP21P genes. For a minority, novel sporadic point mutations have been detected. De novo mutations in CYP21 have also been reported, but only a few studies have systematically screened their occurrence. We here describe a population-based patient sample in order to estimate the rate of single-family (i.e. sporadic) and de novo germline mutations in the human CYP21 locus. Among 76 Finnish families were observed three single-family mutations and two de novo mutations in CYP21. The rates obtained, ∼5% and ∼2% for novel and de novo mutations, respectively, indicate that they are not rare and that their occurrence should not be ignored in genetic diagnostics of this disorder. Copyright © 2001 John Wiley & Sons, Ltd.     

Maternal serum levels of dimeric inhibin A in pregnancies affected by trisomy 21 in the first trimester

Dimeric inhibin A was measured in maternal serum samples from 45 pregnancies affected by trisomy 21 and 493 samples from unaffected pregnancies at 10–14 weeks of gestation. Inhibin A levels in affected pregnancies were compared with levels of free β-hCG and PAPP-A in the same series. In the trisomy 21 group, the median multiple of the median (MoM) inhibin A was not significantly elevated (1.28 vs 1.00) with only 15.5% being above the 95th centile. In contrast, the median MoM free β-hCG was significantly increased (2.05 vs 1.00) with 36% above the 95th centile and PAPP-A was significantly reduced (0.49 vs 1.00) with 42% below the 5th centile. Inhibin A levels in the trisomy 21 group were significantly correlated with gestational age such that median levels rose from 1.04 at 11 weeks to 1.30 at 12 weeks and 1.67 at 13 weeks. These findings suggest that first trimester biochemical screening for trisomy 21, which is currently optimised using maternal serum free β-hCG and PAPP-A and fetal nuchal translucency, will not benefit from the inclusion of inhibin A. Copyright © 2001 John Wiley & Sons, Ltd.     

上海市大气降水中~(210)Pb、~7Be的变化特征

7Be、210Pb等放射性核素已被广泛应用于区域及全球物质传输途径示踪的研究中。2009年8月到2010年10月在上海市普陀区华东师范大学校园设采样点采集了51场大气降水样品,分析了单次降水事件中7Be和210Pb的含量以及湿沉降通量的变化特征,并对比不同季节的变化特征。结果表明:1)单次降水事件中7Be的浓度变化范围为0.21~5.99 Bq/L,210Pb浓度的变化范围为0.01~0.90 Bq/L。7Be和210Pb的月均浓度具有明显的季节变化特征:7Be的浓度高值出现在冬季,夏季浓度最低;210Pb浓度高值出现在秋、冬季节,夏季浓度最低;7Be/210Pb高值主要出现在春、秋季节。2)7Be、210Pb沉降通量与降水量有一定相关性,但单次降水事件7Be和210Pb浓度与降水量并没有很好的相关性。7Be和210Pb沉降通量存在着较好的相关性,指示7Be、210Pb沉降路径有着较好的一致性。     

Energy performance certification and time on the market

This paper analyzes whether energy performance certificates (EPCs) serve as means to reduce the information asymmetry among market participants during the sale of homes. Using a sample of 876,000 single-family homes in the Netherlands, we examine the impact of EPC adoption on the speed of sale. Our results indicate that energy-rated homes sell faster than non-energy-rated homes, an effect that varies by 7–12 percent depending on model specifications and increases when positive (green) ratings are granted. The information conveyed by these certificates reduces the information asymmetry between buyers and sellers, which helps to reduce the uncertainty of quality.     

全球实施《21世纪议程》的主要进展与趋势

从全球角度对世界环境与发展大会以来《21世纪议程》的主要实施进展进行了总结.分析表明,全球经济实现了大幅增长,在消除贫困、推进城市化、节约集约利用资源等方面取得积极进展,但在有关国际公约和承诺的履行方面尚需付出巨大努力.通过对当前全球可持续发展面临的重大挑战和未来趋势进行的分析,认为当前全球可持续发展主要面临三大挑战,即重大全球性环境问题对人类生存构成的直接威胁加大、发展空间争夺更趋激烈和全球性民生问题凸显;全球可持续发展主要呈现四大趋势,即可持续发展进一步由理念向全球行动转化、全球向绿色发展转型、新兴发展中国家成为全球可持续发展的重要推动力和可持续发展领域国际关系呈现竞争性合作.     

铁锰氧化物在不同水分条件下对土壤As的稳定化作用

本文以铁锰氧化物(Fe-Mn,FM)为研究对象,评估其在不同水分条件下对我国南方3种砷(As)污染土壤的稳定化修复效果.结果表明,添加一定比例(质量分数30%)水分对于抑制土壤As的毒性浸出具有积极作用,但水分过高(淹水条件)则会引发As的大量活化释放.淹水条件下,FM对As污染土壤具有明显的应用优势,能使韶关、河池和常德这3种土壤毒性浸出质量浓度均显著下降99. 00%以上,使其土壤有效态As含量分别显著降低55. 40%、40. 05%和16. 92%,并增加专性和非专性吸附态As向水合铁铝氧化物结合态的稳定化. FM能使韶关、河池和常德土壤有效态磷(P)含量分别降低0. 60%～6. 67%、15. 74%～50. 00%和32. 48%～40. 39%,这有可能会限制缺P区域农产品对酸性或中性土壤的P摄取. FM对3种供试土壤p H值影响的变化幅度仅为0. 04～0. 07,对土壤环境的影响非常小. FM在我国淹水As污染土壤稳定化修复领域具有较好的应用前景.     

基于MIKE11与EFDC模型的突发性水污染事故预测模拟研究

通过对沈阳市浑河流域水环境的调查,基于Mike11与EFDC建立浑河流域沈阳段水动力-水质耦合模型,并对突发污染事故进行模拟研究。结果表明,Mike11与EFDC模型应用于浑河流域的预警模型在率定期和验证期的模拟结果均良好,所确定的参数能准确反映河道特征。因此,此预警模型可应用于浑河流域突发性水环境风险应急预测,并且能够对浑河污染物迁移转化过程进行准确模拟预测,模拟结果能够为区域水资源管理和保护提供技术支持,达到流域应急预警功能需求。     

Sand-dust Storm, Population and Environment in Northwest China

Sand-dust storms are the result of the integrated influences of climate, geography, society and human factors. A theoretical framework is built to explain the coherence of population growth, agriculture change and environmental degradation. On the basis of the analysis of the causes of the sand-dust storm in terms of human factors, a discussion will be given to show that these factors are internally consistent with the theoretical framework. After that, it will look at China's Agenda 21 and try to find relevant measures to reduce such large sand-dust storms happening in Northwest China and eventually make this area develop sustainably.