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41.
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
42.
Geochemical characteristics of surficial sediments in the Panangad region of Cochin estuary, the largest brackish-water humid ecosystem in the south-west coast of India, were analysed. Temporal variations in nutrient stoichiometry, seasonal characteristics of redox elements Fe and S, and the phosphorus geochemistry were employed for the purpose. The stoichiometric analysis pointed towards autochthonous origin of organic matter, possibility of nitrogen limitation, and allochthonous modification of redox conditions. Seasonal variations were not statistically significant for all the geochemical parameters, whereas significant spatial variations were observed with lower values at sandy stations, suggesting that the texture of the sediments is the main factor influencing the sediment geochemistry. Significant inter-relations between the geochemical parameters also suggest a common control mechanism. Based on these geochemical characteristics, the study region can be effectively categorized into two distinct zones, viz. (1) erosion and transportation and (2) deposition zones. 相似文献
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44.
Sofie Adolfsson Jörby 《Journal of Environmental Planning and Management》2002,45(2):219-244
Four small- to medium-sized municipalities in the south-east of Sweden were chosen for a 5-year study of their Local Agenda 21 (LA21) processes. The study shows that the LA21 processes have instigated many new ideas, brought fields together and introduced new subjects into the municipal world. In the decisions of the local governments environmental considerations are treated seriously. There are signs of an extended dialogue and of public influence, especially within fields where citizens are directly involved. LA21 does not seem to have great influence on which natural resources are dealt with, but does on how they are dealt with. New stakeholders within and outside the municipal organization have been identified through the LA21 processes, and more comprehensive ways of solving problems and a positive climate for testing new ideas have been created. In these respects LA21 has been and will be a significant support to the development of appropriate natural resource management at the local level. 相似文献
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46.
Living veligers of the Cassoidea have been observed to use a mantle appendage to form and resorb periostracum. Anatomical and histological examinations of a ranellid (Cymatium sp.) larva collected from the Red Sea in 1987 revealed the structure and location of the pallial appendage. The mantle edges of juvenile or adult species of the Cassoidea do not show a comparable specialization. It is demonstrated that cassoid larval conch characters are sufficient to prove the existence of a pallial appendage without anatomical confirmation. A mantle appendage is not known from teleplanic (long-living planktic) veligers of other gastropod superfamilies. In cases where the larval strategies of the latter are known they are totally different. Therefore it is suggested that the adaptation of cassoid larvae to pelagic life is unique among gastropods representing an autapomorphic character of the superfamily. 相似文献
47.
This paper examines the relationship between survivor reactions to a downsizing and retention subsequent to a downsizing. We hypothesize that survivors who experience the downsizing as distributively, procedurally, and interactionally just and who see top management as trustworthy will feel more attached to the organization because each reduces the threat inherent in downsizing. In addition, we hypothesize that survivors who feel empowered will also feel more attached to the organization because they feel better able to cope with the downsizing. We further hypothesize that those survivors who feel more attached to the organization following the downsizing will be more likely to remain with the organization in the coming year. The theoretical model is tested on a sample of aerospace employees who survived an organizational downsizing. The trustworthiness of management, distributive justice, procedural justice, and three dimensions of empowerment are found to facilitate more organizational attachment. Higher levels of attachment are found, in turn, to facilitate less voluntary turnover in the year following the downsizing. Copyright © 2002 John Wiley & Sons, Ltd. 相似文献
48.
49.
Christian-D. Schönwiese 《Environmental Sciences Europe》2005,17(3):171-175
The interdependences between climate and humanity are becoming increasingly apparent, which makes climatology an upto-date and strongly discussed subject. Its task is to identify and examine relatively long-term, regional and global, natural and anthropogenic developments. A global, long-term view reveals a striking increase of surfacenear air temperature since the beginning of the industrial age. On a regional scale, trends differ considerably, but also Germany shows an apparent trend of increasing temperature and precipitation. The development of extreme events is more difficult to judge; the heat summer of 2003 in Europe, however, is among the phenomena that are likely to occur more frequently in the future. The influence of different natural and anthropogenic factors on the climate is expressed, amongst others, through their radiative forcings. Greenhouse gases emitted from anthropogenic activities are of particular significance since their concentration in the atmosphere keeps increasing. Mathematical modeling has made it possible to reconstruct the climate development of the past with increasing precision. The currently observed warming can only be comprehended by assuming anthropogenic influences. For the future development different scenarios have been calculated in order to deduce strategies for necessary action. 相似文献
50.
Stormwater runoff is now a major contributor to the pollution of coastal waters in the United States. Public agencies are responding by requiring stormwater monitoring to satisfy the National Pollutant Discharge Elimination System stormwater permit. However, studies to understand the utility of the current programs or to improve their usefulness have not yet been performed. In this paper, we evaluate the land-use-based program, the industrial stormwater permit program, and beach water-quality monitoring in the County of Los Angeles, California, to determine if the results will be helpful to planners and regulators in abating stormwater pollution. The utility of the program has been assessed based on the programs' ability to accurately estimate the emissions for different classes of land use. The land-use program appears successful, while the industrial monitoring program does not. Beach water-quality monitoring suffers from a lack of real-time monitoring techniques. We also provide suggested improvements, such as sampling method and time, and parameter selection. 相似文献