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.     

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.     

Determination of selected quaternary ammonium compounds by liquid chromatography with mass spectrometry. Part I. Application to surface, waste and indirect discharge water samples in Austria

A method for simultaneous quantitative determination of alkyl benzyl, dialkyl and trialkyl quaternary ammonium compounds (QACs) has been developed, validated and subsequently applied to real water samples in Austria. The method employs liquid-liquid extraction (LLE) followed by liquid chromatography/tandem mass spectrometry (LC-MS/MS), using electrospray ionization (ESI) in positive mode. The overall method quantification limits range from 4 to 19ng/L for the enrichment of 500mL water samples and analyte recoveries are between 80 and 99%. The method was applied to 62 of the respective water samples without filtration to avoid the loss of the analytes due to the high adsorption capacity of these compounds. Maxima in the mg/L range, especially in the wastewater of hospitals and laundries, could be detected for the selected target compounds.     

Use of USLE/GIS Methodology for Predicting Soil Loss in a Semiarid Agricultural Watershed

The Universal Soil Loss Equation (USLE) is an erosion model to estimate average soil loss that would generally result from splash, sheet, and rill erosion from agricultural plots. Recently, use of USLE has been extended as a useful tool predicting soil losses and planning control practices in agricultural watersheds by the effective integration of the GIS-based procedures to estimate the factor values in a grid cell basis. This study was performed in the Kazan Watershed located in the central Anatolia, Turkey, to predict soil erosion risk by the USLE/GIS methodology for planning conservation measures in the site. Rain erosivity (R), soil erodibility (K), and cover management factor (C) values of the model were calculated from erosivity map, soil map, and land use map of Turkey, respectively. R values were site-specifically corrected using DEM and climatic data. The topographical and hydrological effects on the soil loss were characterized by LS factor evaluated by the flow accumulation tool using DEM and watershed delineation techniques. From resulting soil loss map of the watershed, the magnitude of the soil erosion was estimated in terms of the different soil units and land uses and the most erosion-prone areas where irreversible soil losses occurred were reasonably located in the Kazan watershed. This could be very useful for deciding restoration practices to control the soil erosion of the sites to be severely influenced.     

Sonochemical substrate selectivity and reaction pathway of systematically substituted azo compounds

The sonochemical degradation of the systematically substituted azo compound 2,7-dihydroxy-1-phenylazonaphthaline-3,6-disulfonic acid was investigated using a frequency of 850 kHz and an acoustic input power of 61 W. All derivatives were degraded completely within 6h by the ultrasonic treatment. Trifluoromethyl substituted azo compounds exhibited 2-3-fold higher degradation rates in comparison to the reference hydrogen substituted azo compound (k=0.54 h(-1)). In contrast to enzymatic processes (azoreductase or laccase), the ultrasonic treatment for these ortho-, meta-, and para-substituted azo compound showed 1.5-50-fold higher degradation rates. Additionally the ultrasound treatment was characterized by shorter reaction times. As a result of the detection and identification of specific intermediates using LC-MS a reaction pathway of the sonochemical degradation of the analysed azo compound is proposed indicating the formation of cyclohexadienone and naphthalene quinone derivatives.     

Implications of urine-to-feces ratio in the thermophilic anaerobic digestion of swine waste.

Thermophilic anaerobic digestion of swine manure represents a potential waste treatment technology to address environmental concerns, such as odor emissions and removal of pathogenic microorganisms. However, there are concerns relative to the stability of this process when swine manure is the sole substrate. In this study, the potential of biogas production from swine manure as the sole substrate under thermophilic (50 degrees C) conditions was investigated in the laboratory, to determine whether separation of urine and feces as part of the waste collection process would benefit anaerobic digestion. Effluent from a continuously stirred tank reactor was used as the inoculum for batch tests, in which the substrate contained three different concentrations of urine (urine-free, as-excreted urine-to-feces ratio and double the as-excreted urine-to-feces ratio). Inocula were acclimated to these same urine-to-feces ratios to determine methane production. Results show that both urine-free and as-excreted substrates were not inhibitory to anaerobic inocula. Anaerobic microorganisms can be readily acclimated to substrate with double the as-excreted urine concentration, which contained nitrogen concentrations up to 7.20 g/L. Cumulative methane production reached similar levels in the batch tests, regardless of the substrate urine concentration.     

Sorption of the veterinary antimicrobials sulfadimethoxine and ormetoprim in soil

Currently, limited research on the fate of antimicrobials in the environment exists, once they are discharged in human and animal wastes. Sorption of two antimicrobials, sulfadimethoxine (SDM) and ormetoprim (OMP), was investigated in two soils and sand using a series of batch experiments. Because OMP and SDM are often administered in combination, their sorption was also investigated in combination as co-solutes. The rate of SDM and OMP sorption was rapid over the first few hours of the experiments, which then slowed considerably after 16 to 68 h. OMP sorption was enhanced at high concentrations when in combination with SDM, with linear sorption coefficients ranging from 1.3 to 58.3 L.kg(-1) in the single solute experiments and 4.96 to 89.7 L.kg(-1) in the co-solute experiments. Sorption of OMP as a single solute seems to provide a better fit with the Freundlich equation, which became more linear (n approached 1) when SDM was present. Overall, SDM sorbed less than OMP in the two soils and sand. SDM linear sorption coefficients ranged from 0.4 to 25.8 L.kg(-1) as a single solute and 2.5 to 22.1 L.kg(-1) as a co-solute. Sorption of SDM becomes more nonlinear (n < 1) when SDM is present in combination with OMP. Overall, sorption of both antimicrobials increased in the selected soils and sand as the organic matter, clay content, and cation exchange capacity increased. These experiments indicate relatively low sorption of SDM and OMP in natural soils, making them a potential threat to surface and ground water.