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Forty-two fetuses with non-homologous Robertsonian translocations were analyzed for uniparental disomy (UPD). One fetus with a de novo translocation t(13q;14q) had maternal isodisomy of chromosome 14. In a summary of the published data (including the present study), 315 cases were analyzed for UPD after prenatal diagnosis of balanced Robertsonian translocations, of these two fetuses had UPD, giving a risk estimate of 0.65% (CI 0.2–2.3). This risk justifies the recommendation of UPD analysis in fetuses diagnosed prenatally with Robertsonian translocations, with the emphasis on the chromosomes known to contain imprinted genes, such as 14 and 15. We also discuss the possibility of UPD in offspring of Robertsonian translocation carriers with normal karyotype. Based on the risk for UPD in fetuses with Robertsonian translocation we suggest to test these fetuses for UPD and to do so on amniocytes rather than chorionic villi when the risk for unbalanced karyotype is ∼1%, comparable to the risk for UPD. Copyright © 2002 John Wiley & Sons, Ltd.  相似文献   
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While the effects of contemporaneous local environment on species richness have been repeatedly documented, much less is known about historical effects, especially over large temporal scales. Using fen sites in the Western Carpathian Mountains with known radiocarbon-dated ages spanning Late Glacial to modern times (16 975-270 cal years before 2008), we have compiled richness data from the same plots for three groups of taxa with contrasting dispersal modes: (1) vascular plants, which have macroscopic propagules possessing variable, but rather low, dispersal abilities; (2) bryophytes, which have microscopic propagules that are readily transported long distances by air; and (3) terrestrial and freshwater mollusks, which have macroscopic individuals with slow active migration rates, but which also often possess high passive dispersal abilities. Using path analysis we tested the relationships between species richness and habitat age, area, isolation, and altitude for these groups. When only matrix-derived taxa were considered, no significant positive relation was noted between species richness and habitat size or age. When only calcareous-fen specialists were considered, however, habitat age was found to significantly affect vascular plant richness and, marginally, also bryophyte richness, whereas mollusk richness was significantly affected by habitat area. These results suggest that in inland insular systems only habitat specialist (i.e., interpatch disperser and/or relict species) richness is influenced by habitat age and/or area, with habitat age becoming more important as species dispersal ability decreases.  相似文献   
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Sustainability standards and certification serve to differentiate and provide market recognition to goods produced in accordance with social and environmental good practices, typically including practices to protect biodiversity. Such standards have seen rapid growth, including in tropical agricultural commodities such as cocoa, coffee, palm oil, soybeans, and tea. Given the role of sustainability standards in influencing land use in hotspots of biodiversity, deforestation, and agricultural intensification, much could be gained from efforts to evaluate and increase the conservation payoff of these schemes. To this end, we devised a systematic approach for monitoring and evaluating the conservation impacts of agricultural sustainability standards and for using the resulting evidence to improve the effectiveness of such standards over time. The approach is oriented around a set of hypotheses and corresponding research questions about how sustainability standards are predicted to deliver conservation benefits. These questions are addressed through data from multiple sources, including basic common information from certification audits; field monitoring of environmental outcomes at a sample of certified sites; and rigorous impact assessment research based on experimental or quasi‐experimental methods. Integration of these sources can generate time‐series data that are comparable across sites and regions and provide detailed portraits of the effects of sustainability standards. To implement this approach, we propose new collaborations between the conservation research community and the sustainability standards community to develop common indicators and monitoring protocols, foster data sharing and synthesis, and link research and practice more effectively. As the role of sustainability standards in tropical land‐use governance continues to evolve, robust evidence on the factors contributing to effectiveness can help to ensure that such standards are designed and implemented to maximize benefits for biodiversity conservation.  相似文献   
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This work is concerned with the dynamic modelling of the papermaking section of an integrated newsprint mill, and the subsequent application of two direct search methods in a proof-of-concept optimization study of broke recirculation strategies. The effect of the current broke recirculation policy on the mixed pulp properties at the paper machine headboxes was quantified using a dynamic simulation generating data for an objective function which reflected the rate of change in measurable (flow, consistency and temperature) and immeasurable (total dissolved solids and fibre length distribution) parameters. Genetic Algorithm and the Nelder–Mead simplex methods were then linked dynamically to the simulation and used to find improved ways of recirculating broke pulp. Specifically, the profile of the changes to the broke ratio was modelled using a quadratic function and a second-order transfer function, and the coefficients of these functions were optimized. The optimized broke recirculation resulted in a significant reduction in the value of the objective function, thus, suggesting that the fluctuations in the properties of the mixed pulp stream could be dampened and paper machine headbox stability improved. It is expected that this process enhancement strategy would contribute to an increase in production yield (via a reduction in the occurrence of paper machine breaks), and thus an overall reduction in the waste of materials and energy.  相似文献   
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The Lower Jordan River is located in the semiarid area of the Jordan Valley, along the border between Israel and Jordan. The implementation of the water sections of the peace treaty between Israel and Jordan and the countries' commitment to improve the ecological sustainability of the river system require a better understanding of the riverine environment. This paper investigates the sources and transformations of nitrogen compounds in the Lower Jordan River by applying a combination of physical, chemical, isotopic, and mathematical techniques. The source waters of the Lower Jordan River contain sewage, which contributes high ammonium loads to the river. Ammonium concentrations decrease from 20 to 0-5 mg N L(-1) along the first 20 km of the Lower Jordan River, while nitrate concentrations increase from nearly zero to 10-15 mg N L(-1), and delta(15)N (NO(3)) values increase from less than 5 per thousand to 15-20 per thousand. Our data analysis indicates that intensive nitrification occurs along the river, between 5 and 12 km from the Sea of Galilee, while further downstream nitrate concentration increases mostly due to an external subsurface water source that enters the river.  相似文献   
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We study mobilization of colloidal particles from natural porous media, such as soils and groundwater aquifers. Extensive laboratory scale column experiments of particle release from four different subsurface materials are presented. The important characteristics of the release process are (i) its non-exponential kinetics, (ii) the finite supply of colloidal particles and (iii) the strong dependence of the release kinetic on the nature of the adsorbed cations. Particle release depends most sensitively on the relative saturation of the medium with divalent cations. We propose a mathematic model, which captures all these aspects quantitatively, and can be used to describe the coupling between transport of major cations and the release of colloidal particles. The present experimental investigations as well as the developed modeling framework represent an important step towards the understanding of colloid-facilitated transport phenomena in natural porous media.  相似文献   
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