Prenatal diagnosis of partial monosomy 18p(18p11.2→pter) and trisomy 21q(21q22.3→qter) with alobar holoprosencephaly and premaxillary agenesis

A prenatal diagnosis of partial monosomy 18p(18p11.2→pter) and trisomy 21q(21q22.3→qter) in a fetus with alobar holoprosencephaly (HPE) and premaxillary agenesis (PMA) but without the classical Down syndrome phenotype is reported. A 27-year-old primigravida woman was referred for genetic counselling at 21 weeks' gestation due to sonographic findings of craniofacial abnormalities. Level II ultrasonograms manifested alobar HPE and median orofacial cleft. Cytogenetic analysis and fluorescence in situ hybridization (FISH) on cells obtained from amniocentesis revealed partial monosomy 18p and a cryptic duplication of 21q,46,XY,der(18)t(18;21)(p11.2;q22.3), resulting from a maternal t(18;21) reciprocal translocation. The breakpoints were ascertained by molecular genetic analysis. The pregnancy was terminated. Autopsy showed alobar HPE with PMA, pituitary dysplasia, clinodactyly and classical 18p deletion phenotype but without the presence of major typical phenotypic features of Down syndrome. The phenotype of this antenatally diagnosed case is compared with those observed in six previously reported cases with monosomy 18p due to 18;21 translocation. The present study is the first report of concomitant deletion of HPE critical region of chromosome 18p11.3 and cryptic duplication of a small segment of distal chromosome 21q22.3 outside Down syndrome critical region. The present study shows that cytogenetic analyses are important in detecting chromosomal aberrations in pregnancies with prenatally detected craniofacial abnormalities, and adjunctive molecular investigations are useful in elucidating the genetic pathogenesis of dysmorphism. Copyright © 2001 John Wiley & Sons, Ltd.     

沟渠式生物接触氧化法对有机物和氨氮的去除研究

生物接触氧化工艺是目前较为成熟的水质净化技术,国内外在河流水质净化、水体修复中都有较多的研究和应用.在实验室采用沟渠式生物接触氧化组合系统处理模拟村庄面源污水,较好地去除了有机物并实现氨氮转化.结果表明,当进水COD为130～290mg/L、氨氮为30～40mg/L、水力负荷为0.19～0.24m3/(m2·d)的条件下,该系统稳定运行11周,COD和氨氮的平均去除率分别达85%和79%.     

溶胶凝胶法制备磷钨酸掺杂TiO2薄膜及其光催化性能

以钛酸四丁酯为前驱物,采用溶胶凝胶法制备了磷钨酸掺杂的二氧化钛薄膜.通过XRD、FT-TR对该薄膜进行了表征,研究了薄膜在对氯苯酚光降解中的催化活性.结果表明,当磷钨酸与二氧化钛摩尔比为0.01:1、薄膜烧结温度600℃、对氯苯酚溶液浓度30 mg/L(pH＝5)、光催化8 h的条件下,对氯苯酚的降解率超过90%,且薄膜可以重复使用.磷钨酸对二氧化钛的光催化活性具有明显的促进作用.     

生态足迹影响因子的定量分析

人口的膨胀和人类工业化进程的加剧，使得人类向自然界获取越来越多的资源，同时向环境源源不断的输入废弃物，已经严重超过了自然生态系统的供给能力和环境容量，生态环境日益恶化，水土流失、草场退化、植被消亡、生物多样性锐减、全球变暖等情况已经严重到难以遏制的地步，危及到人类自身的生存。在和平与发展成为世界两大主题的今天，人们越来越关注可持续发展的问题。在现有资料的基础上，利用主成分分析方法，定量地讨论了中国各省（区市）1999年生态足迹大小与其影响因子间的关系。结果表明，生态足迹的大小是各省（区市）的大中型企业个数、全社会固定生产投资等众多因子共同作用的结果，其中总人口和GDP是生态足迹大小的主要影响因子，其因子载荷量分别达到了0.940和0.913。值得一提的是非农业人口与生态足迹的相关系数超过了农业人口，这说明由于消费模式和生活水平等的差异，非农业人口对生态足迹的影响大于农业人口对生态足迹的影响。在此基础上建立了生态足迹影响因子的多元线性回归模型，以期为生态足迹在进行区域可持续发展评价的方法上提供新的思路。     

Increased fetal nuchal fold leading to prenatal diagnosis of ring chromosome 15

We report on the prenatal diagnosis of ring chromosome 15 in a fetus with increased nuchal fold and intrauterine growth restriction (IUGR). A 27-year-old woman gravida 2, para 1 had normal maternal serum screen tests in the early second trimester of the index pregnancy. Fetal nuchal fold thickening up to 8 mm was incidentally found during the routine obstetric ultrasound scan at 20 weeks' gestation. Amniocentesis was undertaken and the fetal karyotype was found to be 46,XY,r(15) on cytogenetic study. Fluorescence in situ hybridization (FISH) using a telomeric probe of chromosome 15 demonstrated a terminal deletion on the q arm of the ring-shaped chromosome 15. This is the first report of a prenatally diagnosed case of ring chromosome 15. Moreover, nuchal fold thickness in the second trimester may have a role in its prenatal diagnosis. Copyright © 2001 John Wiley & Sons, Ltd.     

圆形烟道烟尘采样点位置确定之正误

采样点位置的确定是烟尘测试中的一项基础工作。在全国沿用10多年的确定圆形圆形烟道烟尘采样点位置的计算表中的数据,经验算有60％有误;原来以烟道中心为基准的计算公式虽然正确,但实用性差。为了进一步完善烟气测试理论,提高监测质量,提出以烟道内壁为基准的新计算公式。运用新、旧2种计算公式得到一致的计算结果—新计算表,进一步证实了原计算表中的错误。     

Contamination of Canadian and European bottled waters with antimony from PET containers

Using clean lab methods and protocols developed for measuring Sb in polar snow and ice, we report the abundance of Sb in fifteen brands of bottled water from Canada and forty-eight from Europe. Comparison with the natural abundance of Sb in pristine groundwaters, water bottled commercially in polypropylene, analyses of source waters prior to bottling, and addition of uncontaminated groundwater to PET bottles, provides unambiguous evidence of Sb leaching from the containers. In contrast to the pristine groundwater in Ontario, Canada containing 2.2 +/- 1.2 ng l(-1) Sb, 12 brands of bottled natural waters from Canada contained 156 +/- 86 ng l(-1) and 3 brands of deionized water contained 162 +/- 30 ng l(-1); all of these were bottled in PET containers. Natural water from Ontario bottled in polypropylene contained only 8.2 +/- 0.9 ng l(-1). Comparison of three German brands of water available in both glass bottles and PET containers showed that waters bottled in PET contained up to 30 times more Sb. To confirm that the elevated Sb concentrations are due to leaching from the PET containers, water was collected in acid-cleaned LDPE bottles from a commercial source in Germany, prior to bottling; this water was found to contain 3.8 +/- 0.9 ng l(-1) Sb (n = 5), compared with the same brand of water purchased locally in PET bottles containing 359 +/- 54 ng l(-1) (n = 6). This same brand of water in PET bottles, after an additional three months of storage at room temperature, yielded 626 +/- 15 ng l(-1) Sb (n = 3). Other German brands of water in PET bottles contained 253-546 ng l(-1) Sb (n = 5). The median concentration of Sb in thirty-five brands of water bottled in PET from eleven other European countries was 343 ng l(-1) (n = 35). As an independent check of the hypothesis that Sb is leaching from PET, the pristine groundwater from Canada (containing 2.2 +/- 1.2 ng l(-1) Sb) was collected from the source using PET bottles from Germany: this water contained 50 +/- 17 ng l(-1) Sb (n = 2) after only 37 days, even though it was stored in the refrigerator, and 566 ng l(-1) after six months storage at room temperature.     

废水产氢产酸/同型产乙酸耦合产酸条件优化

为了更好地发挥产氢产酸/同型产乙酸耦合系统在废水厌氧发酵生产乙酸方面的优势,有必要寻找一种简单有效的方法以获得该系统产酸的优化条件.利用经过加热处理并活化的厌氧污泥作种泥,以模拟废水中的葡萄糖为底物,针对发酵时间、底物浓度、种泥浓度、初始pH进行4因素10水平均匀设计实验,得到了乙酸生产指标与产酸条件之间关系的回归方程;也得到了以高乙酸产量为主要目标导向同时兼顾高乙酸产率和高乙酸生产强度目标的优化条件;优化条件实验乙酸浓度比均匀设计中最高乙酸浓度提高20%左右.研究表明,将均匀设计应用于废水产氢产酸/同型产乙酸耦合产酸条件优化,可以避免盲目性,迅速获得满意结果.