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.     

Comparison between the accumulation capacity of four lichen species transplanted to a urban site

The capacity to accumulate trace elements from the atmosphere of the lichens Hypogymnia physodes, Parmelia sulcata, Pseudevernia furfuracea and Usnea gr. hirta transplanted to an urban site of N Italy was compared. Twenty-nine elements (Al, As, Br, Ca, Cd, Ce, Cl, Co, Cr, Cs, Cu, Fe, Hg, I, K, La, Mg, Mn, Ni, Pb, Rb, Sb, Sc, Se, Sm, Th, Ti, V, Zn) were analyzed by Instrumental Neutron Activation Analysis (INAA) and Electro-Thermal Atomic Absorption Spectroscopy (ET-AAS). The ratio between the concentrations of each element in exposed samples to that of control samples (exposed-to-control ratio and EC ratio) was used to investigate the accumulation rates of lichen thalli. The results showed that in general elements did not exhibit well defined trends, but rather showed fluctuations, and indicated that H. physodes, P. furfuracea and U. gr. hirta have a similar accumulation capacity, while that of P. sulcata is lower.     

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.     

A closed-chamber CO2-flux method for estimating intertidal primary production and respiration under emersed conditions

This paper describes a closed-chamber method for measuring CO₂ fluxes in intertidal soft sediments during periods of emersion. The method relies on closed-circuit incubations of undisturbed sediment and measurement of CO₂ exchanges using an infrared gas analyser. The method was assessed during field experiments, both in light and dark conditions, on an exposed sandy beach and in an estuary. The rates of gross community production measured under moderate irradiance (4.2 mg C m^-2 h^-1 on the exposed sandy beach and 35 mg C m^-2 h^-1 in the estuary) are in good agreement with rates reported in the literature. In conjunction with appropriate sampling strategies, this method can be useful for estimating and comparing production of intertidal areas or for assessing factors that influence production.     

Phosphorus supply influences heathland responses to atmospheric nitrogen deposition

On an upland moor dominated by pioneer Calluna vulgaris and with an understorey of mosses and lichens, experimental plots were treated with factorial combinations of nitrogen (N) at +0 and +20kg Nha(-1)yr(-1), and phosphorus (P) at +0 and +5kg Pha(-1)yr(-1). Over the 4-year duration of the experiment, the cover of the Calluna canopy increased in density over time as part of normal phenological development. Moss cover increased initially in response to N addition but then remained static; increases in cover in response to P addition became stronger over time, eventually causing reductions in the cover of the dominant Calluna canopy. Lichen cover virtually disappeared within 4 years in plots receiving +20kg Nha(-1)yr(-1) and also in separate plots receiving +10kg Nha(-1)yr(-1), but this effect was reversed by the addition of P.     

Comparison of models of simazine transport and fate in the subsurface environment in a citrus farm

Contamination of groundwater by agrochemicals is now widely recognized as an extremely important environmental problem. Modern agricultural practices involve the combined use of irrigation with the application of large amounts of agrochemicals to maximize crop yield. Due to flood irrigation and natural runoff, agricultural activities might generate soil, surface water and groundwater contamination problems and leaching of pesticides. Modeling of the transport and fate of pesticides, such as simazine, may help understand the long-term potential risk to the subsurface environment. This paper illustrates a comparative study via the use of three different pesticide transport simulation models and the applicability of those models in determining the groundwater vulnerability to pesticides contamination in a citrus orchard located at the Lower Rio Grande Valley (LRGV). The three models used in the study are the pesticide root zone model-3 (PRZM-3), the pesticide analytical model (PESTAN) and integrated pesticide transport modeling (IPTM). The concentration values obtained from all three models are in agreement, and they show a decreasing trend from the surface through the vadose zone. The problem is how to use this information and, specifically, how to combine the testimony of a number of experts into a single useful judgment. With the aid of the fuzzy multiattribute decision making method, PRZM-3 is deemed as the most promising one for such precision farming applications.     

城市燃气管道事故应急抢修方案的决策分析

通过对近年来的城市燃气管道事故抢险统计数据的分析与研究,管道事故抢险方案的选择存在着很大的主观性和片面性.为了克服应急抢修方案的种种局限,笔者应用模糊综合评判方法建立了城市燃气管道事故应急抢修方案评价选择模型;考虑可靠性、抢修时间、事故损失、抢险费用、社会影响及政治影响等6类影响因素来评判抢修方案的优劣,可以科学合理地选择最佳的管道事故应急抢修方案,达到经济合理、快速可靠的目的;实例验证,评判模型对城市燃气管道事故抢险具有重要的现实意义和参考价值.     

A directional passive air sampler for monitoring polycyclic aromatic hydrocarbons (PAHs) in air mass

A passive air sampler was developed for collecting polycyclic aromatic hydrocarbons (PAHs) in air mass from various directions. The airflow velocity within the sampler was assessed for its responses to ambient wind speed and direction. The sampler was examined for trapped particles, evaluated quantitatively for influence of airflow velocity and temperature on PAH uptake, examined for PAH uptake kinetics, calibrated against active sampling, and finally tested in the field. The airflow volume passing the sampler was linearly proportional to ambient wind speed and sensitive to wind direction. The uptake rate for an individual PAH was a function of airflow velocity, temperature and the octanol-air partitioning coefficient of the PAH. For all PAHs with more than two rings, the passive sampler operated in a linear uptake phase for three weeks. Different PAH concentrations were obtained in air masses from different directions in the field test.     

Nitrogen and metals in two regions in Central Europe: Significant differences in accumulation in mosses due to land use?

The study was conducted to test the hypothesis that the regional variability of nitrogen (N) and metal accumulations in terrestrial ecosystems are due to historical and recent ways of landuse. To this end, two regions of Central Europe were selected for investigation: the Weser-Ems Region (WER) and the Euro Region Nissa (ERN). They were assumed to have land use-specific accumulation profiles. Thus, the metal and N accumulations in both regions were examined by means of geostatistically based comparative moss analysis. The sampling and chemical analysis of mosses were conducted in accordance with the convenient guidelines and methods, respectively. The spatial representativity of the sampling sites was computed by means of a land classification which was calculated for Europe by means of classification trees and GIS-techniques. The differences of deposition loads were tested for statistical significance with regard to time and space. The measurement values corroborated the decline of metal accumulation observed since the beginning of the European Metals in Mosses Surveys in 1990. The metal loads of the mosses in the ERN exceeded those in the WER significantly. The opposite holds true for the N concentrations: those in the WER were significantly higher than those in the ERN. The reduction of emissions from power plants, factories and houses was strongly correlated with the decline of deposition and bioaccumulation of metals. As proved by the European Metals in Mosses Surveys, this tendency is due to successful environmental policies. But no such success could be verified by monitoring the accumulation of N in mosses.     

Effects of ocean temperature on the southern range limits of two understory kelps, <Emphasis Type="Italic">Pterygophora californica</Emphasis> and <Emphasis Type="Italic">Eisenia arborea</Emphasis>, at multiple life-stages

Environmental factors have long been shown to influence species distributions, with range limits often resulting from environmental stressors exceeding organism tolerances. However, these abiotic factors may differentially affect species with multiple life-history stages. Between September 2004 and January 2006, the roles of temperature and nutrient availability in explaining the southern distributions of two understory kelps, Pterygophora californica and Eisenia arborea (Phaeophyceae, Laminariales), were investigated along the coast of California, USA and the Baja California Peninsula, Mexico, by limiting either: (a) tissue nitrogen uptake and storage by adult sporophytes during periods of elevated temperature, and/or (b) production of embryonic sporophytes by microscopic gametophytes. Results suggest that while adult sporophytes of both species are tolerant of high temperatures and low nutrients, reproduction by their microscopic stages is not. Specifically, while E. arborea produced embryonic sporophytes at both 12 and 18°C, temperatures commonly observed throughout the southern portion of its range, P. californica produced sporophytes at 12 but not at 18°C. As a result, it appears that the southern distribution of P. californica, which ends in northern Baja California, Mexico, may be limited by temperature acting on its microscopic stages. In contrast, the ability of E. arborea’s microscopic and adult stages to tolerate elevated temperatures allows it to persist in the warmer southern waters of Baja California, as well as to the north along the California coast where both species co-occur.