Prenatal diagnosis of Juberg–Hayward syndrome

Juberg–Hayward syndrome is a rare autosomal recessive syndrome characterised by the association of growth retardation, microcephaly, cleft lip and palate, and thumb and radial ray abnormalities. To date, no prenatal cases have been reported. Here, we report on the first prenatal case of Juberg–Hayward syndrome. The diagnosis was established following fetopathological study. Besides the cardinal features of the syndrome, this prenatal case was remarkable for the severity of the short arm malformation and by the finding of big toe agenesis and cerebral abnormalities including hydrocephalus, agenesis of corpus callosum, and cerebellar hypoplasia. We conclude that the diagnosis of Juberg–Hayward syndrome can be discussed prenatally following ultrasound diagnosis of the association of intrauterine growth restriction, microcephaly, thumb/radial anomalies, and cleft lip/palate. Copyright © 2005 John Wiley & Sons, Ltd.     

Chinese life cycle impact assessment factors

ＩｎｔｒｏｄｕｃｔｉｏｎＬｉｆｅｃｙｃｌｅａｓｓｅｓｓｍｅｎｔ(ＬＣＡ)ｉｓａｎｅｎｖｉｒｏｎｍｅｎｔａｌｍａｎａｇｅｍｅｎｔｔｏｏｌｔｈａｔｉｓｕｓｅｄｔｏｅｘａｍｉｎｅａｎｄｅｖａｌｕａｔｅｔｈｅｅｎｖｉｒｏｎｍｅｎｔａｌｉｍｐａｃｔｓａｓｓｏｃｉａｔｅｄｗｉｔｈｔｈｅｅｘｉｓｔｅｎｃｅｏｆｐｒｏｄｕｃｔｓ(Ｊｅｎｓｅｎ,1998;Ｗｅｉｄｅｍａ,1997;Ｗｅｎｚｅｌ,1997).ＴｈｅｆｏｃｕｓｏｆＬＣＡｉｓｏｎｔｈｅｅｎｔｉｒｅｌｉｆｅｃｙｃｌｅｏｆｔｈｅｐｒｏｄｕｃｔ,ｉ.ｅ.ｆｒｏｍｔｈｅｅｘｔｒａｃｔｉ…     

Metabolomic analysis of the selection response of Drosophila melanogaster to environmental stress: are there links to gene expression and phenotypic traits?

We investigated the global metabolite response to artificial selection for tolerance to stressful conditions such as cold, heat, starvation, and desiccation, and for longevity in Drosophila melanogaster. Our findings were compared to data from other levels of biological organization, including gene expression, physiological traits, and organismal stress tolerance phenotype. Overall, we found that selection for environmental stress tolerance changes the metabolomic ¹H NMR fingerprint largely in a similar manner independent of the trait selected for, indicating that experimental evolution led to a general stress selection response at the metabolomic level. Integrative analyses across data sets showed little similarity when general correlations between selection effects at the level of the metabolome and gene expression were compared. This is likely due to the fact that the changes caused by these selection regimes were rather mild and/or that the dominating determinants for gene expression and metabolite levels were different. However, expression of a number of genes was correlated with the metabolite data. Many of the identified genes were general stress response genes that are down-regulated in response to selection for some of the stresses in this study. Overall, the results illustrate that selection markedly alters the metabolite profile and that the coupling between different levels of biological organization indeed is present though not very strong for stress selection at this level. The results highlight the extreme complexity of environmental stress adaptation and the difficulty of extrapolating and interpreting responses across levels of biological organization.     

Aerobic and anaerobic transformations of sulfide in a sewer system--field study and model simulations.

The formation and fate of sulfide in a force main and a downstream-located gravity sewer were investigated in an extensive field study. Sulfide formation in the force main was significant. However, during 14 minutes of transport in the gravity sewer, the sulfide concentration decreased 30%, on average. An application of a conceptual sewer process model for simulating the formation and fate of sulfide was demonstrated. Overall, the model predicted that approximately 90% of the decrease of the sulfide concentration in the gravity sewer was the result of sulfide oxidation and that only a small fraction entered the sewer atmosphere, causing odor and corrosion. Even so, the model predicted concrete corrosion rates of up to 1.2 mm/y in the gravity sewer section.     

Isolation and characterization of <Emphasis Type="Italic">Bradyrhizobium</Emphasis> sp. SR1 degrading two β-triketone herbicides

In this study, a bacterial strain able to use sulcotrione, a β-triketone herbicide, as sole source of carbon and energy was isolated from soil samples previously treated with this herbicide. Phylogenetic study based on16S rRNA gene sequence showed that the isolate has 100 % of similarity with several Bradyrhizobium and was accordingly designated as Bradyrhizobium sp. SR1. Plasmid profiling revealed the presence of a large plasmid (>50 kb) in SR1 not cured under nonselective conditions. Its transfer to Escherichia coli by electroporation failed to induce β-triketone degrading capacity, suggesting that degrading genes possibly located on this plasmid cannot be expressed in E. coli or that they are not plasmid borne. The evaluation of the SR1 ability to degrade various synthetic (mesotrione and tembotrione) and natural (leptospermone) triketones showed that this strain was also able to degrade mesotrione. Although SR1 was able to entirely dissipate both herbicides, degradation rate of sulcotrione was ten times higher than that of mesotrione, showing a greater affinity of degrading-enzyme system to sulcotrione. Degradation pathway of sulcotrione involved the formation of 2-chloro-4-mesylbenzoic acid (CMBA), previously identified in sulcotrione degradation, and of a new metabolite identified as hydroxy-sulcotrione. Mesotrione degradation pathway leads to the accumulation of 4-methylsulfonyl-2-nitrobenzoic acid (MNBA) and 2-amino-4 methylsulfonylbenzoic acid (AMBA), two well-known metabolites of this herbicide. Along with the dissipation of β-triketones, one could observe the decrease in 4-hydroxyphenylpyruvate dioxygenase (HPPD) inhibition, indicating that toxicity was due to parent molecules, and not to the formed metabolites. This is the first report of the isolation of bacterial strain able to transform two β-triketones.     

Assessing the vulnerability of rare plants using climate change velocity,habitat connectivity,and dispersal ability: a case study in Alberta,Canada

Climate change generally requires species to migrate northward or to higher elevation to maintain constant climate conditions, but migration requirement and migration capacity of individual species can vary greatly. Individual populations of species occupy different positions in the landscape that determine their required range shift to maintain similar climate, and likewise the migration capacity depends on habitat connectivity. Here, we demonstrate an approach to quantifying species vulnerabilities to climate change for 419 rare vascular plants in Alberta, Canada, based on a multivariate velocity of climate change metric, local habitat fragmentation, and migration capacity. Climate change velocities indicated that future migration requirements ranged from 1 to 5 km/year in topographically complex landscapes, such as the Alberta Foothills and Rocky Mountains. In contrast, migration requirements to maintain constant climate in relatively flat Boreal Plains, Parkland, and Grassland ranged from 4 to 8 km/year. Habitat fragmentation was also highest in these flat regions, particularly the Parkland Natural Region. Of the 419 rare vascular plants assessed, 36 were globally threatened (G1–G3 ranking). Three globally threatened species were ranked as extremely vulnerable and five species as highly vulnerable to the interactions among climate change velocity, habitat fragmentation, and migration capacity. Incorporating dispersal characteristics and habitat fragmentation with local patterns in climate change velocity improves the assessment of climate change threats to species and may be applied to guide monitoring efforts or conservation actions.     

Measurement and Management of Human-Induced Patterns of Forest Fragmentation: A Case Study

In many tropical developing countries, the twin pressures of population and poverty are resulting in substantial fragmentation of forests, increasing the probability of extinction for many species, Forest fragmentation occurs when large contiguous forests are perforated by small holes or broken up into edges and smaller patches to form a nonforested matrix of open spaces. Thus, forest fragmentation refers not only to the area of forest cleared, but also to the pattern of this clearance, the resulting forest’s spatial properties. Both characteristics are important for species survivability. Apart from opening up forests to many abiotic and biotic influences, fragmentation can affect species dispersal and migration through its effects on forest connectivity. Landscape ecology conceptualizes connectivity as a gradient of critical thresholds, ranging from the large intact forest to the small unconnected forest patch. This article reports results from a multiple-scale analysis of forest fragmentation in Jamaica’s Cockpit Country, an area of once contiguous forest now under threat from human encroachment. Spatial forest data derived from classification of ETM+ satellite imagery are used to measure fragmentation patterns representing various degrees of forest connectivity and density. The results suggest that, overall, 81% of the region is in forest. However, fragmentation patterns also suggest that this forest is riven with extensive perforations indicative of an early stage in the decline of contiguity. The results provided by the spatial fragmentation model are a first step in the design of effective conservation and rehabilitation plans for the area. The article concludes with a discussion of possible multiscale management options for the region.