Molecular diagnosis of a novel heterozygous 268C→T (R90C) mutation in TGIF gene in a fetus with holoprosencephaly and premaxillary agenesis

We report the sonographic diagnosis and molecular analysis of holoprosencephaly (HPE) and premaxillary agenesis in a second-trimester fetus with a 46,XY karyotype. Mutational sequence analyses for the entire coding region and exon–intron boundaries of SHH, ZIC2, SIX3 and TGIF genes identified a novel heterozygous missense TGIF mutation 268C→T (CGC→TGC change) that predicts an Arg90Cys substitution in the homeodomain region of TGIF. The proband's parents did not carry the mutation. The present case is an example of the heterogeneous entity of the HPE spectrum and demonstrates that adjunctive molecular analyses of distinct human genes for HPE can reassure genetic counselling by elucidating the genetic pathogenesis, especially in cytogenetically normal fetuses affected with HPE. Copyright © 2002 John Wiley & Sons, Ltd.     

Effect of Climatic Changes on Radial Increment and Age Structure Formation in High-Mountain Larch Forests of the Kuznetsk Ala Tau

The relationship between growth indices and renewal rates of the Siberian larch (Larix sibiricaLedeb.) stands that have grown at the timberline in the Kuznetsk Ala Tau mountains during the past 350 years was analyzed. The age generations of larch were formed in the 1640s, 1660s, 1680s, 1700s, 1720s, 1740s, 1760s–1770s, 1800s–1810s, 1850s, 1870s–1880s, 1900s, 1920s, and 1930s–1940s. It was shown that the formation of these age generations coincided with 10- to 30-year periods of increased growth of larch and improved temperature conditions in summer.     

分子流态下翅片管式热沉传输几率计算分析

目的研究空间环境模拟器翅片管式热沉传输特性,为进一步开展真空等效性分析等研究工作奠定基础。方法根据热沉结构特点建立镜面反射气体输运通道模型,采用蒙特卡罗方法,对该模型的传输几率进行分析计算,并建立验证模型,对计算结果进行验证。结果对于所选择的翅片管式热沉,其平面阵列的传输几率为0.030 116 4,柱面阵列的传输几率为0.017 988 6。结论蒙特卡罗方法可以用于计算一定结构的翅片管式热沉的传输几率。通过传输几率的计算,可以将热沉等效为具有相应传输几率的可透射平面,从而在保证模拟精度的同时大大简化模拟计算强度,提高计算效率。     

Groundwaters at Risk: Wetland Loss Changes Sources,Lengthens Pathways,and Decelerates Rejuvenation of Groundwater Resources

Wetland loss alters the hydrology of wetlandscapes in poorly understood ways. To quantify the effects of wetland loss on subsurface hydrology, a physically based hydrologic model that simulates the timing and pathways of subsurface hydrologic connections was coupled with wetland inventories over a 50‐year period during which substantial wetland loss occurred. The model revealed, based on vertical variations in saturated hydraulic conductivities, wetland loss of different degrees led to a contraction of catchment contributing areas to local surface waters but an expansion of contributing areas to the regional surface water body. This shift in groundwater contributing areas reflected (1) a decrease in baseflow contribution to the local surface water bodies, and (2) an increase in the transit time and length of subsurface hydrologic connections with an associated increase in the magnitude and age of baseflow discharging to the regional surface water body. The model also showed regions with thick permeable aquifers were particularly sensitive to the loss of wetlands. Our ability to predict these changes in hydrology of the watershed provides important support for designing science‐based policies to promote sustainable water resource management.     

Biota Connect Aquatic Habitats throughout Freshwater Ecosystem Mosaics

Freshwater ecosystems are linked at various spatial and temporal scales by movements of biota adapted to life in water. We review the literature on movements of aquatic organisms that connect different types of freshwater habitats, focusing on linkages from streams and wetlands to downstream waters. Here, streams, wetlands, rivers, lakes, ponds, and other freshwater habitats are viewed as dynamic freshwater ecosystem mosaics (FEMs) that collectively provide the resources needed to sustain aquatic life. Based on existing evidence, it is clear that biotic linkages throughout FEMs have important consequences for biological integrity and biodiversity. All aquatic organisms move within and among FEM components, but differ in the mode, frequency, distance, and timing of their movements. These movements allow biota to recolonize habitats, avoid inbreeding, escape stressors, locate mates, and acquire resources. Cumulatively, these individual movements connect populations within and among FEMs and contribute to local and regional diversity, resilience to disturbance, and persistence of aquatic species in the face of environmental change. Thus, the biological connections established by movement of biota among streams, wetlands, and downstream waters are critical to the ecological integrity of these systems. Future research will help advance our understanding of the movements that link FEMs and their cumulative effects on downstream waters.     

Availability estimation of a multi-state wind farm in fuzzy environment

Wind is one of the fastest growing renewable energy resources in the electric power system. Availability of wind energy is volatile in nature due to the stochastic behavior of wind speed and non-linear variation of the wind power curve of wind turbine generator. Because of this impression and uncertainty, the availability estimation of wind power has become a challenging issue. In this paper, Markov Fuzzy Reward technique has been proposed for finding out the reliability of wind farm by assessing the availability of wind power. According to this technique, availability of the wind power has been estimated considering wind farm and demand both as a multi-state system. In addition to the availability, different reliability indices such as the number of absolute failures, mean time to deficiency, and probability of failures of a wind farm have been assessed in a time horizon, which can provide useful information for the power system planner at wind farm installing stage. A comparison of this study reveals the efficacy of the proposed Markov Fuzzy Reward approach over the conventional Markov Reward approach.     

两种不同硅铝比的ZSM-5型分子筛去除水中Pb~(2+)的研究

考察硅铝比不同的ZSM-5两种分子筛(25H和50H,25和50为硅铝比:SiO2/Al2O3)对水中Pb2+离子的吸附去除效能。两种材料均可有效吸附去除水中Pb2+离子,吸附等温线符合Langmuir吸附等温式,25H的最大吸附容量达22.22mg/g,吸附动力学符合假二阶动力学模型,吸附速率及吸附容量顺序为:25H>50H。随着投加量的增加,分子筛对Pb2+的去除率呈上升趋势。常见共存阳离子均对分子筛吸附去除Pb2+产生影响。     

Molecular toxicity of earthworms induced by cadmium contaminated soil and biomarkers screening

Earthworms (Eisenia fetida) were used to study the impact of low-dose cadmium in treated artificial soil (0, 0.6, 3, 6, 15, 30 mg/kg) and contaminated natural soil (1.46 mg/kg). The changes of earthworms' physiological related gene expressions of metallothionein (MT), annetocin, calreticulin and antimicrobial peptides were detected using real-time PCR after a 70-day incubation period. The results showed that low doses of cadmium could up regulate earthworms' MT and down regulate annetocin gene expression and show a significant positive and negative correlation respectively. The expression of two other genes, calreticulin and anti-microbial peptides, was induced at low doses of cadmium (highest gene expression at 0.6 mg/kg for calreticulin and 6 mg/kg for anti-microbial peptides) and inhibited at high doses. No significant correlation was found for these two genes. This study shows that MT and annetocin genes expression found in earthworms in contaminated soil have the potential to be developed as biomarkers of soil cadmium pollution.     

孔径调变对MCM-41分子筛吸附VOCs性能的影响

采用3种不同碳链长度的季铵盐表面活性剂C_nTAB(n=8,12,16)为模板剂,分别合成8-MCM-41、12-MCM-41和16-MCM-41介孔分子筛,并以甲苯、邻二甲苯、均三甲苯为吸附对象,考察了介孔分子筛动态吸附VOCs的性能.结果表明,通过减少表面活性剂的碳链长度,可以成功地把MCM-41分子筛的孔径调变为4.1、3.2和2.4 nm.吸附实验结果表明,当MCM-41孔径减小时,其对低浓度甲苯、邻二甲苯的吸附量大幅上升,均三甲苯存在孔道扩散效应,其吸附量增加不明显.吸附等温线表明,在2.4 nm孔道内,3种芳烃分子均属于典型的Langmuir单分子层吸附;当孔径大于2.4 nm时,芳烃分子出现明显的多层吸附和毛细凝聚现象.