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.     

基于MIKE耦合模型的入河污染模拟与控制效能研究

为解决沙河水库流域河道水质差、水环境退化等问题,以主要超标污染物COD_Cr、NH₃-N和TP为指标,应用MIKE11、MIKE SHE及ECO Lab构建流域水文水动力及水质耦合模型,探究污染物的迁移转化规律,并进一步评估不同控制措施下的河道水质改善效能.研究表明：耦合模型在研究区具有良好的适应性,水动力模拟精度良好,水质模拟PBIAS均小于40%;通过提高居民生活污水处理率、排口截污等措施削减点源污染入河是提升考核断面水质的关键,总量控制措施下,3条考核断面COD_Cr、NH₃-N和TP年平均浓度分别减少6.91~22.82、0.66~2.70、0.09~0.30 mg·L^-1,降幅明显,逐渐满足V类水质考核标准,并最终达到Ⅲ~Ⅳ类水平;同时,针对北沙河朝宗桥断面1—6月NH₃-N和TP超标的状况,可在总量控制方案不足的基础上,采用组合引水方案.     

考虑水温变化的变降解系数在北京市北运河水质模拟中的应用

综合降解系数是水质模拟预测、水环境容量计算中的关键参数之一,并且受温度影响较大。首先基于北京市北运河代表站2010年逐日水温资料,根据描述氨氮降解系数与温度之间数量关系的经验公式,得到随水温变化的动态降解系数以及年均水温对应的恒定降解系数,并采用模型试错法进行修正。然后基于MIKE11模型,模拟了采用变降解系数和恒定降解系数2种情景下北运河榆林庄断面氨氮浓度的变化。结果表明:2种情景均能较好地模拟氨氮浓度的年变化趋势,但采用变降解系数下大多月份模拟得到的月均质量浓度相对实测值误差较小,尤其是4—12月各月平均质量浓度模拟误差控制在15%以内,全年日均质量浓度模拟误差不足4%,模型表现更为稳定。     

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.     

试论二十一世纪高校体育师资的素质问题

二十一世纪高校体育师资的综合素质提出了更新、更高、更全面的要求,体育老师要跟上时代的步伐,适应现代体育改革与发展的需要就必须进一步提高自身的素质,这是未来高校体育工作的基础和关键.