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.     

Influence of soil properties and aging on the toxicity of copper on compost worm and barley

Influence of soil properties and aging on Cu partitioning and toxicity was assessed on 10 artificial soils constituted using a statistical design considering pH (5.5 and 7.5), organic matter (1-30% [w/w]), and clay content (5-35% [w/w]). Total Cu as well as water-, CaCl2-, and diethylene triamine pentaacetic acid (DTPA)-extracted Cu fractions were determined for each soil mixture. Ecotoxic effect was assessed by determining growth inhibition of barley (Hordeum vulgare L.) and compost worm (Eisenia fetida) mortality. Analyses were repeated after a 16-wk aging period of the soils at pH 7.5 (8 x 2-wk wetting and drying cycle). Results indicated that pH was the main factor controlling Cu partitioning, ahead of organic matter and clay content. Calcium chloride (0.5 M)-extracted Cu fractions showed the best correlation with toxic responses (r = 0.55-0.66; p < 0.05), while total and DTPA-extracted Cu concentrations could not explain differences in toxicity. Direct regressions between toxicity and soil properties (pH, organic matter, and clay content) provided better explanation of variance: r2= 0.50 (p = 0.00006) for compost worm mortality, r2= 0.77 (p < 0.00001) for barley shoot inhibition, and r2= 0.92 (p < 0.00001) for barley root inhibition. Copper toxicity was mainly influenced by pH and, to a lesser extent, by organic matter and clay content. Aging in organic soils revealed a slight reduction in ecotoxicity while an increase was observed in soils with low organic matter content. Further investigation using longer aging periods would be necessary to assess the significance of this observation.     

Catchment-Wide Wetland Assessment and Prioritization Using the Multi-Criteria Decision-Making Method TOPSIS

It is widely accepted that wetland ecosystems are under threat worldwide. Many communities are now trying to establish wetland rehabilitation programs, but are confounded by a lack of objective information on wetland condition or significance. In this study, a multi-criteria decision-making method, TOPSIS (the Technique for Order Preference by Similarity to Ideal Solution), was adapted to assist in the role of assessing wetland condition and rehabilitation priority in the Clarence River Catchment (New South Wales, Australia). Using 13 GIS data layers that described wetland character, wetland protection, and wetland threats, the wetlands were ranked in terms of condition. Through manipulation of the original model, the wetlands were prioritized for rehabilitation. The method offered a screening tool for the managers in choosing potential candidate wetlands for rehabilitation in a region.     

Utilization of energy substrates during calling activity in tropical frogs

Calling activity in frogs is energetically demanding to males because they usually perform at or near their physiological capacities. Metabolic fuel for muscle contractions during bouts of aerobic calling activity comes from carbohydrates and lipids that are stored in the trunk muscles. I monitored nightly calling performance in males of seven tropical frog species from two families, Hylidae and Leptodactylidae, and compared levels of glycogen and lipid in the trunk muscles from males collected before and after a three-hour period of calling activity. Trunk muscles from late-evening males in five species had up to 63% less glycogen than the trunk muscles from early-evening males; relatively little depletion was observed in two other species. Overall, glycogen reserves and rates of depletion were highest in species with very high calling rates. It was not possible to measure changes in the relatively large stores of lipid in the trunk muscles after only 3 h of calling. Nevertheless, intramuscular lipid stores probably provide a greater percentage of the energy needed for sound production than glycogen stores, and are largest in species with high calling rates. Received: 7 January 1997 / Accepted after revision: 20 July 1997     

Specialization of the entomopathogenic nematode Steinernema scapterisci with its mutualistic Xenorhabdus symbiont

The level of specialization of the entomopathogenic nematode Steinernema scapterisci with its native Xenorhabdus symbiont was investigated by testing (1) the influence of non-native bacterial strains on nematode fitness within an insect-host (Galleria mellonella) and (2) specificity of the association between the nematode infective juveniles and non-native bacteria. All non-native Xenorhabdus spp. or Photorhabdus spp. strains tested were mutualistically associated with other entomopathogenic nematodes in nature. We showed that most of the Xenorhabdus spp. strains tested led to an insignificant difference of the nematode's fitness compared to the one obtained with the native bacterium. Conversely, Photorhabdus spp. strains almost entirely abolished nematode reproduction. The phylogenetic analysis of bacterial strains tested, showed that there was a negative correlation between S. scapterisci's reproduction rate with a bacterial strain and the genetic distance of this bacterial strain from the native one. We also showed that the native bacterium was the only one which was transmitted by S. scapterisci's infective juveniles. All these results, suggested a specialization between S. scapterisci and its native Xenorhabdus. As the same phenomenon was already demonstrated in the association between S. carpocapsae and X. nematophila, specialization between partners would not be an exception in entomopathogenic nematode-bacteria interactions. Nevertheless, S. scapterisci showed a dramatically higher compatibility with non-native Xenorhabdus spp. strains than did S. carpocapsae, suggesting differences in the co-evolutionary processes between nematodes and bacteria in these two model systems.Table 1 List of the bacterial strains, native nematode species with their geographical origin, accession numbers of bacterial 16S rDNA partial sequences and number of combination experiments for each bacterium tested

Toxicity of tire debris leachates

Data on the indicators of environmental impact of tire debris, originated from the tire abrasion on roads, are extremely scarce, while it is well known that tires may produce deleterious effects. Tire debris contains significant quantities of zinc (Zn) which may be released by tire rubber. We have used tire particles (TD) produced in laboratory from new rubber. Two sets of experiments were set up to obtain eluates. One set used 50 and 100 g/L TD to produce eluates at pH 3-7. The Zn quantity was measured with a Inductively Coupled Plasma-Atomic Emission Spectrometry. The eluates at 1%,10%,50%,100% concentrations in culture media were tested on Raphidocelis subcapitata, Daphnia magna and Xenopus laevis embryos (FETAX test). The other set of experiments was performed putting 250 mg/L TD in a column with glass beads to control particle dispersion during the elution process. We demonstrate that factors such as pH, size and particles aggregation deeply influence the elution process, that the amount of Zn leached from particles is related to their aggregation rather than their quantity. These results, even though do not reflect the real environmental toxicity of the leachates, can be successfully used for comparative purposes allowing an initial assessment of the potential effect of tire derived particles.