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921.
S. Savas S. Eraslan S. Kantarci B. Karaman D. Acarsoz T. Tükel O. Cogulu F. Ozkinay S. Basaran K. Aydınlı M. Yuksel-Apak B. Kirdar 《黑龙江环境通报》2002,22(8):703-709
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. 相似文献
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923.
Pollution indicators and other microorganisms in river sediment 总被引:12,自引:0,他引:12
924.
Persistence of residues in water and sediment of a fresh-water lake after surface application of technical chlordane 总被引:1,自引:0,他引:1
P C Oloffs L J Albright S Y Szeto 《Journal of environmental science and health. Part. B》1978,13(1):47-58
A fresh-water lake, free from detectable pesticide residues before this study, was treated with a commercial formulation of technical chlordane. Water and sediment samples were analysed for chlordane residues 7, 24, 52, 279. and 421 days after treatment. Residues moved rapidly from the water to the lake bottom, supporting earlier results of a laboratory study with other organochlorines. In water, alpha- and gamma-chlordane concentrations remained proportional to total chlordane concentrations, as determined by total-peak area measurements of gas-liquid chromatogrammes. But in bottom sediments, alpha- and gamma-chlordane were more persistent than other constituents of technical chlordane, supporting recent evidence that quantification of technical chlordane residues on the basis of gamma-chlordane quantification only (or that of alpha- and gamma-chlordane only), can lead to incorrect results and that this method, although simple and fast, should no longer be recommended. 相似文献
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929.
A. Azadeh S. Motevali Haghighi S.M. Asadzadeh H. Saedi 《Journal of Loss Prevention in the Process Industries》2013,26(6):1457-1465
In this study, an Integrated Simulation-Data Envelopment Analysis (DEA) approach is presented for optimum facility layout of maintenance workshop in a gas transmission unit. The process of repair of incoming parts includes various operations on different facilities. The layout problem in this system involves determining the optimum location of all maintenance shop facilities. Layout optimization plays a crucial role in this type of problems in terms of increasing the efficiency of main production line. Standard types of layouts including U, S, W, Z and straight lines are considered. First, the maintenance workshop is modeled with discrete-event-simulation. Time in system, average waiting time, average machine utilization, average availability of facilities, average queue length of facilities (AL) and average operator utilization are obtained from simulation as key performance indicators (KPIs) of DEA. Also, safety index and number of operators are considered as other KPIs. Finally, a unified non-radial Data Envelopment Analysis (DEA) is presented with respect to the stated KPIs to rank all layouts alternatives and to identify the best configuration. Principle Component Analysis (PCA) is used to validate and verify the results. Previous studies do not consider safety factor in layout design problems. This is the first study that presents an integrated approach for identification of optimum layout in a maintenance workshop of gas transmission unit by incorporating safety and conventional factors. 相似文献
930.
Natech accidents at industrial plants are an emerging risk with possibly serious consequences. For the mitigation of natech risk, authorities need to identify natech prone areas in a systematic manner. In order to facilitate probabilistic natech risk mapping, a unified methodology was developed that is based on the estimation of on-site natural hazard parameters, determination of damage probabilities of plant units, and assessment of probability and severity of possibly triggered natech events. The methodology was implemented as an on-line, extensible risk assessment and mapping software framework called RAPID-N, which allows rapid local and regional natech risk assessment and mapping with minimal data input. RAPID-N features an innovative data estimation framework to complete missing input data, such as on-site natural hazard parameters and plant unit characteristics. The framework is also used for damage assessment and natech consequence analysis, and allows easy modification of input parameters, dynamic generation of consequence models according to data availability, and extension of models by adding new equations or substituting existing ones with alternatives. Results are presented as summary reports and interactive risk maps, which can be used for land-use and emergency planning purposes by using scenario hazards, or for rapid natech consequence assessment following actual disasters. As proof of concept, the framework provides a custom implementation of the U.S. EPA's RMP Guidance for Offsite Consequence Analysis methodology to perform natech consequence analysis and includes comprehensive data for earthquakes. It is readily extendible to other natural hazards and more comprehensive risk assessment methods. 相似文献