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.     

LCA与环境决策

应用生命周期评估对一个产品体系在其生命周期中的投入产出对环境造成的影响进行评估，可以帮助人们对全过程和全方位来认识事物，从而有利于避免环境决策的失误。     

省域生态环境质量动态评价及差异研究

以2010~2015年30个省域为研究对象，采用“驱动力-压力-状态-影响-响应”框架构建评价指标体系，运用逐层纵横向拉开档次法确定指标权重，运用“时间度”和“熵值”法确定时间权重，构建TOWA-GA混合算子生态环境质量动态评价模型.结果表明：6a来，30个省域生态环境质量总体均值为0.837，整体呈好转趋势，但省域间差异明显.通过Theil指数分析发现，省域间总体差异下降了15.91%，人口密度和人口自然增长率是省域间差异的主要影响因素.     

试探LCA理论在环境因素识别中的应用

该文通过实例探讨了LCA理论的基本方法与作用机理，及其在产品环境因素识别中的应用。     

我国可持续设计及其实践的探讨

可持续设计超越了传统设计和生态设计，要求平衡经济、环境、社会３方面的发展需要，在可持续设计的基本工具产品生命周期评价尚需进一步发展的同时，建立适当的设计准则是当前发展可持续设计的可行途径。     

Environmental assessment of supercritical water oxidation of sewage sludge

Environmental aspects of using supercritical water oxidation (SCWO) to treat sewage sludge were studied using a life cycle assessment (LCA) methodology. The system studied is the first commercial scale SCWO plant for sewage sludge in the world, treating sludge from the municipal wastewater treatment facility in Harlingen, TX, USA. The environmental impacts were evaluated using three specific environmental attributes: global warming potential (GWP), photo-oxidant creation potential (POCP) and resource depletion; as well as two single point indicators: EPS2000 and EcoIndicator99. The LCA results show that for the described process, gas-fired preheating of the sludge is the major contributor to environmental impacts, and emissions from generating electricity for pumping and for oxygen production are also important. Overall, SCWO processing of undigested sewage sludge is an environmentally attractive technology, particularly when heat is recovered from the process. Energy-conserving measures and recovery of excess oxygen from the SCWO process should be considered for improving the sustainability potential.     

Uncertainty characterization for emergy values

While statistical estimation of uncertainty has not typically accompanied published emergy values, as with any other quantitative model, uncertainty is embedded in these values, and lack of uncertainty characterization makes their accuracy not only opaque, it also prevents the use of emergy values in statistical tests of hypotheses. This paper first attempts to describe sources of uncertainty in unit emergy values (UEVs) and presents a framework for estimating this uncertainty with analytical and stochastic models, with model choices dependent upon on how the UEV is calculated and what kind of uncertainties are quantified. The analytical model can incorporate a broader spectrum of uncertainty types than the stochastic model, including model and scenario uncertainty, which may be significant in emergy models, but is only appropriate for the most basic of emergy calculations. Although less comprehensive in its incorporation of uncertainty, the proposed stochastic method is suitable for all types of UEVs. The distributions of unit emergy values approximate the lognormal distribution with variations depending on the types of uncertainty quantified as well as the way the UEVs are calculated. While both methods of estimating uncertainty in UEVs have their limitations in their presented stage of development, this paper provides methods for incorporating uncertainty into emergy, and demonstrates how this can be depicted and propagated so that it can be used in future emergy analyses and permit emergy to be more readily incorporated into other methods of environmental assessment, such as LCA.     

厌氧-准好氧联合型生物反应器填埋场产气规律的研究

通过将厌氧型生物反应器填埋场（ANBL）和准好氧矿化垃圾生物反应床（SAARB）串联,组成新型的厌氧-准好氧联合型生物反应器填埋场（AN-SABL）,研究其产气速率、产气量以及产气组分的变化规律,以期为填埋气体的收集、利用和处理提供理论依据.实验表明,AN-SABL中的厌氧填埋单元的产气受到了抑制,其中ANBL2号单元和ANBL3号单元的产气率分别为49 L.kg-1和39 L.kg-1,仅占ANBL1号的94.2%和75.0%,但提高回灌频率,能促进厌氧填埋单元的产气,其甲烷含量最大值可达到62.67%;ANBL夏季产气速率和产气量明显高于冬季,并以12 h为周期交替出现产气高峰;此外,AN-SABL能够促进其厌氧单元的硝化和反硝化作用,N2O的含量受季节和填埋场类型影响显著,其变化范围在0.001 7%～4.017 9%之间.ANBL的累积产气量在初始调整阶段呈对数增长,过渡酸化阶段呈线性增长,酸化产甲烷阶段呈指数增长.     

基于生命周期评价的城市固体废弃物处理模式研究进展

通过回顾2003-2010年国内外不同城市固体废弃物管理体系生命周期评价结果,列举比较了不同固体废弃物处理模式下的全球变暖潜力、酸化潜力和净能源效用等影响评价因子的大小,得出城市固体废弃物处理模式环境影响等级:填埋的环境影响潜值最大,焚烧的环境影响潜值小于填埋,而结合堆肥后环境影响潜值降低;此外,将固体废弃物资源化引入到处理模式后,特别是垃圾源头分类回收后,环境影响潜值大大降低。结合我国城市固体废弃物处理现状,提出单一的处理模式应转变为综合处理模式,多种生活垃圾处理方式适当的有机结合,因地制宜地开展固体废弃物资源化管理,以及餐厨垃圾源头分类收集处理等建议,为政府能有效利用城市固体废弃物处理设施的能力提供参考。     

铅酸蓄电池生命周期评价

铅酸蓄电池是世界上产量最大、用途最广的一种二次电池。铅酸蓄电池生命周期过程中每一个环节都有可能对环境带来不利影响,评估从生产到废弃处理关键过程中对环境的影响,可以为制定有效的管理政策提供科研支撑。目前,尚缺乏针对我国特色的铅酸蓄电池行业全生命周期评价的研究,造成此行业的污染防治无据可依。因此,本研究针对铅酸蓄电池的生命周期进行评价,通过设定研究目的与范围、收集数据与分析清单、获得影响评价和解释结果,研究了铅酸蓄电池对环境的影响,结果表明铅酸蓄电池在生产环节的板栅浇铸过程和废弃处理环节的脱硫过程应属于管理中着重控制的部分。