Prenatal diagnosis of primary anophthalmia with a 3q27 interstitial deletion involving SOX2

We report an interstitial deletion of chromosome 3q26-q28 in a fetus in which anophthalmia had been detected prenatally. FISH analysis, using BAC clones encompassing the SOX2 locus, showed that SOX2 gene was involved in the chromosomal breakpoint of the deletion. This case confirms that haploinsufficiency for SOX2 plays a crucial role in human eye development and emphasizes the necessity of careful chromosomal analysis, including FISH analysis of the 3q region, in case of prenatal discovery of anophthalmia. Copyright © 2004 John Wiley & Sons, Ltd.     

Power matters in closing the phenotyping gap

Much of our understanding of physiology and metabolism is derived from investigating mouse mutants and transgenic mice, and open-access platforms for standardized mouse phenotyping such as the German Mouse Clinic (GMC) are currently viewed as one powerful tool for identifying novel gene-function relationships. Phenotyping or phenotypic screening involves the comparison of wild-type control mice with their mutant or transgenic littermates. In our study, we explored the extent to which standardized phenotyping will succeed in detecting biologically relevant phenotypic differences in mice generated and provided by different collaborators. We analyzed quantitative metabolic data (body mass, energy intake, and energy metabolized) collected at the GMC under the current workflow, and used them for statistical power considerations. Our results demonstrate that there is substantial variability in these parameters among lines of wild-type C57BL/6 (B6) mice from different sources. Given this variable background noise in mice that serve as controls, subtle phenotypes in mutant or transgenic littermates may be overlooked. Furthermore, a phenotype observed in one cohort of a mutant line may not be reproducible (to the same extent) in mice coming from a different environment or supplier. In the light of these constraints, we encourage researchers to incorporate information on intrastrain variability into future study planning, or to perform advanced hierarchical analyses. Both will ultimately improve the detectability of novel phenotypes by phenotypic screening. Carola W. Meyer and Ralf Elvert contributed equally to this work.     

Linking Russia with the European and global greenhouse gas emissions trading markets: three paths for greening the Russian assigned amount under the Kyoto Protocol

This article examines possibilities for linkage between the European Union Emissions Trading System (EU ETS) and Russia, with a view to enhancing cooperation on a broader scale than the project-based approaches that have been tested thus far. Three paths for possible EU-Russia linkage are presented by which the Russian Assigned Amount under the Kyoto Protocol can be greened in order to stimulate emissions trading: 1. Joint implementation—reductions earned via individual projects in Russia; 2. Greened allowances or green investment schemes; and 3. Linked cap-and-trade systems, in which a Russian domestic emissions trading system would link with the European Union Emissions Trading System. The authors conclude that the third option, emissions trading through linked domestic emissions trading systems, offers the best opportunities at the lowest transaction costs. The authors discuss useful innovative instruments like call options and slip level arrangements on government-to-government and business-to-business levels.

Uncertainty Models for Estimates of Physical Characteristics of River Segments Over Large Areas

Spatially comprehensive estimates of the physical characteristics of river segments over large areas are required in many large‐scale analyses of river systems and for the management of multiple basins. Remote sensing and modeling are often used to estimate river characteristics over large areas, but the uncertainties associated with these estimates and their dependence on the physical characteristics of the segments and their catchments are seldom quantified. Using test data with varying degrees of independence, we derived analytical models of the uncertainty associated with estimates of upstream catchment area (CA), segment slope, and mean annual discharge for all river segments of a digital representation of the hydrographic network of France. Although there were strong relationships between our test data and estimates at the scale of France, there were also large relative local uncertainties, which varied with the physical characteristics of the segments and their catchments. Discharge and CA were relatively uncertain where discharge was low and catchments were small. Discharge uncertainty also increased in catchments with large rainfall events and low minimum temperature. The uncertainty of segment slope was strongly related to segment length. Our uncertainty models were consistent across large regions of France, suggesting some degree of generality. Their analytical formulation should facilitate their use in large‐scale ecological studies and simulation models.     

Expedient Metrics to Describe Plant Community Change Across Gradients of Anthropogenic Influence

Human influence associated with land use may cause considerable biodiversity losses, namely in oceanic islands such as the Azores. Our goal was to identify plant indicator species across two gradients of increasing anthropogenic influence and management (arborescent and herbaceous communities) and determine similarity between plant communities of uncategorized vegetation plots to those in reference gradients using metrics derived from R programming. We intend to test and provide an expedient way to determine the conservation value of a given uncategorized vegetation plot based on the number of native, endemic, introduced, and invasive indicator species present. Using the metric IndVal, plant taxa with a significant indicator value for each community type in the two anthropogenic gradients were determined. A new metric, ComVal, was developed to assess the similarity of an uncategorized vegetation plot toward a reference community type, based on (i) the percentage of pre-defined indicator species from reference communities present in the vegetation plots, and (ii) the percentage of indicator species, specific to a given reference community type, present in the vegetation plot. Using a data resampling approach, the communities were randomly used as training or validation sets to classify vegetation plots based on ComVal. The percentage match with reference community types ranged from 77 to 100 % and from 79 to 100 %, for herbaceous and arborescent vegetation plots, respectively. Both IndVal and ComVal are part of a suite of useful tools characterizing plant communities and plant community change along gradients of anthropogenic influence without a priori knowledge of their biology and ecology.     

The Achievement of a Decentralized Water Management Through Stakeholder Participation: An Example from the Drôme River Catchment Area in France (1981–2008)

Different water Acts (e.g., the European Water Framework Directive) and stakeholders involved in aquatic affairs have promoted integrated river basin management over recent decades. However, few studies have provided feedback on these policies. The aim of the current article is to fill this gap by exploring how local newspapers reflect the implementation of a broad public participation within a catchment of France known for its innovation with regard to this domain. The media coverage of a water management strategy in the Drôme watershed from 1981 to 2008 was investigated using a content analysis and a geographic information system. We sought to determine what public participation and decentralized decision-making can be in practice. The results showed that this policy was integrated because of its social perspective, the high number of involved stakeholders, the willingness to handle water issues, and the local scale suitable for participation. We emphasized the prominence of the watershed scale guaranteed by the local water authority. This area was also characterized by compromise, arrangements, and power dynamics on a fine scale. We examined the most politically engaged writings regarding water management, which topics of each group emphasized, and how the groups agreed and disagreed on issues based on their values and context. The temporal pattern of participation implementation was progressive but worked by fits and starts.     

Expertise,safety, reliability,and decision making: practical industrial experience

This paper presents our practical experience of expert opinion deduced from concrete field applications, concerning mainly safety and reliability modeling. First, expertise is defined and the approach used for eliciting expertise is shortly described. Quality and value of information from experts are important challenges for decision making from risk analysis. Expertise is very useful for supplying data when not enough field observations are available for estimating parameter uncertainties and quantifying risk analysis models, which are inputs to a decision-making process. Applications presented herein concern mainly the role of expert judgment in reliability.     

Amplified ribosomal DNA restriction analysis as a routine tool to assess toxicant driven changes in hindgut bacterial populations of Porcellio dilatatus (Crustacea: Isopoda)

Changes in saprophytic organism's gut microbial communities may present a threat to organic matter breakdown which can ultimately lead to soil function impairment. In this study, Amplified Ribosomal DNA Restriction Analysis (ARDRA) was evaluated as a potential simple molecular tool to assess shifts in bacterial community structure in hindgut populations of Porcellio dilatatus exposed to contaminated food. This prospective tool can also be used for a variety of purposes and samples prior to the use of more specific and sophisticated methods.     

Translocation of Sb and Ti in an undisturbed floodplain soil after application of Sb2O3 and TiO2 nanoparticles to the surface

The pore water transport of antimony and titanium, applied as nanoparticles (NPs), was studied by spiking stable suspensions of two different nanomaterials on the surface of an undisturbed floodplain soil. For preparation of stable dispersions, two different strategies were followed. (i) Comparable to those used in industrial applications: titanium dioxide nanoparticles, with an average diameter of 99 nm, were prepared by high-energy ball milling in water, whereas for (ii) antimony trioxide (Sb(2)O(3); average diameter 121 nm) a dispersing agent (sodium salt of poly[(naphthaleneformaldehyde)sulfonate] (pNFS) in water) was used. The upper 17 cm of a floodplain soil (river Rhine, Germany) was sampled using the minimally invasive sediment or fauna incubation experiment (SOFIE? two compartment cell; 3 l volume each), which preserved the pore system of the soil. The cells were equipped with 450 and 100 nm filter probes at different depths providing a non-invasive sampling of the pore water. The pore water was sampled at different times (T = 0, 24, 48, 96 and 196 h) and analysed by inductively coupled plasma quadrupole mass spectrometry (ICP-QMS). Sb and Ti were transported via the pore water of the floodplain soil to a depth of 14 cm, corresponding to the maximum cell depth. The highest Sb concentration in the pore water was detected after 24 h at a depth of 5.5-8 cm. Although the spiked concentration was higher for Ti than for Sb, the total Ti concentration in the pore water of the spiked cell was lower. This indicates a stronger agglomeration of TiO(2) NPs or a more intensive interaction of Ti with the solid matrix and a faster transport of Sb towards deeper soil layers. The results show that metal(loid)s from metal oxide NPs are transported in the soil pore water and, hence, have the potential to act as the source of contamination of deeper soil layers after soil surface contamination.