Prenatal prediction of childhood-onset spinal muscular atrophy (SMA) in Turkish families

Childhood-onset spinal muscular atrophy (SMA) is one of the most common neurodegenerative genetic disorders. SMN1 is the SMA-determining gene deleted or mutated in the majority of SMA cases. There is no effective cure or treatment for this disease yet. Thus, the availability of prenatal testing is important. Here we report prenatal prediction for 68 fetuses in 63 Turkish SMA families using direct deletion analysis of the SMN1 gene by restriction digestion. The genotype of the index case was known in 40 families (Group A) but unknown in the remaining 23 families (Group B). A total of ten fetuses were predicted to be affected. Eight of these fetuses were derived from Group A and two of these fetuses were from Group B families. Two fetuses from the same family in Group A had the SMNhyb1 gene in addition to homozygous deletion of the NAIP gene. One fetus from Group A was homozygously deleted for only exon 8 of the SMN2 gene, and further analysis showed the presence of both the SMN1 and SMNhyb1 genes but not the SMN2 gene. In addition, one carrier with a homozygous deletion of only exon 8 of the SMN1 gene was detected to have a SMNhyb2 gene, which was also found in the fetus. To our knowledge, these are the first prenatal cases with SMNhyb genes. Follow-up studies demonstrated that the prenatal predictions and the phenotype of the fetuses correlated well in 33 type I pregnancies demonstrating that a careful molecular analysis of the SMN genes is very useful in predicting the phenotype of the fetus in families at risk for SMA. Copyright © 2002 John Wiley & Sons, Ltd.     

Modelling Tracer Dispersion from Landfills

Several wind tunnel experiments of tracer dispersion from reduced-scale landfill models are presented in this paper. Different experimental set-ups, hot-wire anemometry, particle image velocimetry and tracer concentration measurements were used for the characterisation of flow and dispersion phenomena nearby the models. The main aim of these experiments is to build an extensive experimental data set useful for model validation purposes. To demonstrate the potentiality of the experimental data set, a validation exercise on several mathematical models was performed by means of a statistical technique. The experiments highlighted an increase in pollutant ground level concentrations immediately downwind from the landfill because of induced turbulence and mean flow deflection. This phenomenon turns out to be predominant for the dispersion process. Tests with a different set-up showed an important dependence of the dispersion phenomena from the landfill height and highlighted how complex orographic conditions downwind of the landfill do not affect significantly the dispersion behaviour. Validation exercises were useful for model calibration, improving code reliability, as well as evaluating performances. The Van Ulden model proved to give the most encouraging results.     

Types of Ectomycorrhiza as Pollution Stress Indicators: Case Studies in Slovenia

Mycorrhiza is the main spatial and temporal linkage between different constituents in a forest ecosystem. The functional compatibility and stress tolerance of ectomycorrhizal types is species specific, and therefore the information on the ectomycorrhizal community structure can add to the understanding of processes in forest ecosystems and can also be applied as tools for bioindication of pollution stress in forest soils. We have studied the effects of pollution (N and S) on trees and forest soils by: (1) quantification of ECM types diversity as in situ indicators in forest stands, (2) determination and quantification of pollution-sensitive or -insensitive ECM types as passive monitors, (3) root growth and development of ECM on nonmycorrhizal spruce seedlings, planted at the studied sites (active monitors), and (4) ECM infection (a bioassay based on mycorrhizal inoculum potential) of seedlings in an experimental set-up as ex situ testers. ECM species richness for Norway spruce trees (Picea abies) showed higher values in unpolluted sites than in polluted ones, while the differences were not significant for European beech trees (Fagus sylvatica). As pollution-sensitive or -insensitive ECM species in spruce forests, we suggest Hydnum rufescens (sensitive) and Paxillus involutus (unsensitive). Mycorrhizal potential in Norway spruce seedlings as a bioassay for soil N and S pollution was effective, and is suggested as an additional, standardized and widely comparable system in bioindication of soil pollution.     

兰州市大气污染特征与污染预报技术研究

结合兰州市大气污染特征,采用国际上较为先进的污染预报模式,分别建立了实时资料与数值产品相结合的实用统计预报模型.其系统预报结果准确程度较好,实用性强,时研究兰州市大气污染来源及政府决策都起着重要的作用.     

Diffusion pollution from livestock and poultry rearing in the Yangtze Delta,China

BACKGROUND: The Yangtze Delta is one of the most developed regions in China and includes Shanghai, eight cities in Jiangsu province and eight cities in Zhejiang province. Meat consumption in this region has increased with economic growth, and most of the consumed meat is produced locally. The water quality of surface waters has deteriorated in recent years. An example was the huge blue-green algae bloom in Tai Lake in late May 2007, which affected millions of people's daily drinking water. However, animal husbandry is considered to be one of the main pollution sources. METHODS: Pollutants (NH3-N, total phosphorus (TP), and total nitrogen (TN)) excreted by livestock and poultry, and the resultant COD (chemical oxygen demand) and BOD (biochemical oxygen demand), were estimated using two different methods based on different data sets. RESULTS: The number of livestock and poultry has remained stable in the Yangtze Delta over the four years from 1999 to 2002, with the average number of pigs, cattle, sheep and poultry being 21.1 M, 0.4 M, 7.7 M and 597.6 M, respectively. Pollutants in livestock and poultry excreta estimated by Method I were: 0.12 Mt NH3-N, 0.11 Mt TP and 0.29 Mt TN, resulting in COD and BOD of 1.34 Mt and 1.30 Mt, respectively, while the estimations based on Method II were: 0.18 Mt NH3-N, 0.15 Mt TP and 0.40 Mt TN, resulting in COD and BOD of 1.95 Mt and 1.80 Mt, respectively. DISCUSSION: Pollutants excreted annually by livestock and poultry in the Yangtze Delta are estimated to be: 0.17 Mt NH3-N, 0.16 Mt TP and 0.42 Mt TN, giving rise to a COD of 1.86 Mt and a BOD of 1.72 Mt. Approximately 25% of this pollution was estimated to enter water bodies, which means that the annual pollutant load is 43,700 t NH3-N, 39,400 tTP, 104,600t TN with a COD of 465,000 tand a BOD of 430,100 t. Pollutants from animal husbandry were similar in magnitude to those from industrial wastewater. Pigs produced the most pollution, followed by poultry, cattle and sheep. The pollution load from animal husbandry in the Yangtze Delta is about twice the average level of the whole of China. CONCLUSIONS: Domestic wastewater was the main pollution source in the Yangtze Delta, followed by pollution from raising livestock and poultry and from industrial wastewater. The pollution load in Shanghai and Jiaxing were the greatest, followed by 7 cities of Jiangsu province (except Suzhou) and other cities of Zhejiang province and Suzhou. Pigs and poultry produced about 90% of the total pollutants from animal husbandry. RECOMMENDATIONS AND PERSPECTIVES: The local governments, especially in Shanghai and Jiaxing, should focus their attention on the pollution produced by livestock and poulrry. Controlling pollution from pigs and poultry will have the greatest impact in this region. Control of pollution will be facilitated by the development of large-scale livestock and poultry farming units and a shift away from small scale husbandry.     

典型污染源中多环麝香的污染特征

合成麝香是一类近十多年才引起人们关注的有机污染物.合成麝香广泛分布于环境中.难降解,易生物富集,对水生生物和人体均呈现一定的生物毒性.文章对某一化妆品厂生产车闯内、外及工厂外的上、下风向大气中多环麝香进行了定性定量分析,结果表明,除ATⅡ之外,大气中检测出了五种多环麝香,其中作为对照点的上风向多环麝香总浓度为5.43ng/m3,而工厂室内、外及下风向的多环麝香浓度范围为17.25～5543.4ng/m3;气固分配实验研究发现,超过68.43%的多环麝香分布于气相中.     

Application of GIS in the study of mass transport of pollutants by Adyar and Cooum Rivers in Chennai, Tamilnadu

Residential, industrial, commercial, institutional and recreational activities discharge degradable and non-degradable wastes that reach the coastal water through rivers and cause coastal pollution. In the present study, mass transport of pollutants by Adyar and Cooum Rivers to the coastal water as a result of land-based discharges was estimated during low tide. The lowest and the highest flow recorded in Adyar varied from 514.59 to 2,585.08×10⁶ litres/day. Similarly, the flow in Cooum River fluctuated between 266.45 and 709.34×10⁶ litres/day. The present study revealed that the Adyar River transported 53.89–454.11 t/d of suspended solids, 0.06–19.64 t/d of ammonia, 15.95–123.24 t/d of nitrate and 0.4–17.86 t/d of phosphate, 0.004–0.09 kg/d of cadmium, 0.15–1.29 kg/d of lead and 3.03–17.58 kg/d of zinc to the coastal water owing to its high discharge. Similarly, the Cooum River transported 11.87–120.06 t/d of suspended solids, 0.08–58.7 t/d of ammonia, 6.11–29.25 t/d of nitrate and 0.66–10.73 t/d of phosphate, 0.003–0.021 kg/d of cadmium, 0.02–0.44 kg/d of lead and 1.36–3.87 kg/d of zinc. A higher concentration of suspended solids was noticed in post monsoon and summer months. An increase in the mass transport of ammonia, nitrate, phosphate in summer months (April and May) and an increase in the mass transport of cadmium, lead and zinc were observed in monsoon months (October–December) in both the rivers. Thus mass transport of pollutants study reveal that Cooum and Adyar Rivers in Chennai contribute to coastal pollution by transporting inorganic and trace metals significantly through land drainage.     

Magnetic mapping of fly-ash pollution and heavy metals from soil samples around a point source in a dry tropical environment

The Singrauli region in the southeastern part of Uttar Pradesh, India is one of the most polluted industrial sites of Asia. It encompasses 11 open cast coalmines and six thermal power stations that generate about 7,500 MW (about 10% of India’s installed generation capacity) electricity. Thermal power plants represent the main source of pollution in this region, emitting six million tonnes of fly-ash per annum. Fly-ash is deposited on soils over a large area surrounding thermal power plants. Fly-ashes have high surface concentrations of several toxic elements (heavy metals) and high atmospheric mobility. Fly ash is produced through high-temperature combustion of fossil fuel rich in ferromagnetic minerals. These contaminants can be identified using rock-magnetic methods. Magnetic susceptibility is directly linked to the concentration of ferromagnetic minerals, primarily high values of magnetite. In this study, magnetic susceptibility of top soil samples collected from surrounding areas of a bituminous-coal-fired power plant were measured to identify areas of high emission levels and to chart the spatial distribution of airborne solid particles. Sites close to the power plant have shown higher values of susceptibility that decreases with increasing distance from the source. A significant correlation between magnetic susceptibility and heavy metal content in soils is found. A comparison of the spatial distribution of magnetic susceptibility with heavy-metal concentrations in soil samples suggests that magnetic measurements can be used as a rapid and inexpensive method for proxy mapping of air borne pollution due to industrial activity.     

生态土壤渗滤系统启动周期研究

利用室内模拟试验装置,考察了4种生态土壤渗滤系统在0.1 m3/(m2·d)的水力负荷条件下对生活污水中TP、COD和NH3-N的去除效果及启动周期; 同时对整个系统及同类生态工艺启动周期的判断方法做了探讨.研究结果表明,生态土壤渗滤系统对TP、COD和NH3-N的启动周期分别为15～27 d、24～40 d和24～26 d; 土壤渗滤系统对TP的启动周期最短,对COD的启动周期最长; 处理系统启动周期的判断原则是综合考察系统对主要污染物各自的启动周期,以最长的作为系统启动周期.4组试验中,1#和2#系统的启动周期为40 d; 3#和4#的为24 d.     

人工神经网络在预测深基坑周边地表沉降变形中的应用研究

深基坑开挖引起的周边地表变形预测是一个复杂非线性问题,引起地表沉降的影响因素很多,各因素之间呈高度的非线性关系。传统的基坑用边地表沉降变形预测方法存在着一定的局限性,其预测精度有待提高,而人工神经网络是一种多元非线性动力学系统,可以灵活方便地对多成因的复杂未知系统进行高度建模,实现全面考虑各种主要影响因素的深基坑周边地表沉降变形预测。本文介绍了误差反向传播(BP)网络模型的结构、学习过程及其算法的改进,径向基函数(RBF)网络模型的结构及其学习过程;分析了影响深基坑开挖周边土体沉降变形的主要影响因素;以25个基坑工程的地表沉降实测资料为训练样本,建立了11个输入影响因素的BP神经网络模型和RBF神经网络模型,通过对样本的学习训练过程及对5个检验样本的预测精度,说明了人工神经网络用于预测基坑周边地表沉降的可行性和准确性。