Prenatal DNA diagnosis of Noonan syndrome in a fetus with massive hygroma colli,pleural effusion and ascites

Prenatal molecular genetic diagnosis for Noonan syndrome I is reported. Noonan syndrome was suspected because of large cystic hygroma colli, massive pleural effusion and ascites at 23 weeks of gestation and normal karyotype (46,XX). DNA was prepared from amnion cells and screened for mutations in the PTPN11 gene. In exon 8, a missense mutation (S285F) was found. Delivery was induced at 33 weeks of gestation because of silent cardiotocography (CTG). Despite immediate drainage of the hydrothorax, mechanical ventilation was insufficient and the child died 9 h after birth due to severe pulmonary hypoplasia. Pleural punctate was enriched for small lymphocytes and thus was characterized as chylus. Prenatal ultrasound findings in Noonan syndrome usually are unspecific and rarely lead to a diagnosis. However, with the combination of cystic hygroma, pleural effusion, ascites and normal karyotype Noonan syndrome should be considered and DNA testing for PTPN11 mutations may be appropriate. Malformations of lymphatic vessels and/or chylothorax in Noonan syndrome seem to be more frequent than usually anticipated. Copyright © 2005 John Wiley & Sons, Ltd.     

DETERMINISTIC MODELS FOR PREDICTING RESIDENTIAL WATER CONSUMPTION1

ABSTRACT: Forecasts of future urban water demand traditionally have been made by the projection of historic trends in per capita consumption and population. This paper outlines the use of two deterministic models to forecast the residential component of urban water demand. The models incorporate specific representation of the activities which result in water consumption at each residence. Predictions of water use can then be made by modeling the changes expected in the number of these activities and the consumption for each such activity.     

Modeling the Influence of Dynamic Zoning of Forest Harvesting on Ecological Succession in a Northern Hardwoods Landscape

Dynamic zoning (systematic alteration in the spatial and temporal allocation of even-aged forest management practices) has been proposed as a means to change the spatial pattern of timber harvest across a landscape to maximize forest interior habitat while holding timber harvest levels constant. Simulation studies have established that dynamic zoning strategies produce larger tracts of interior, closed canopy forest, thus increasing the value of these landscapes for interior-dependent wildlife. We used the simulation model LANDIS to examine how the implementation of a dynamic zoning strategy would change trajectories of ecological succession in the Great Divide Ranger District of the Chequamegon–Nicolet National Forest in northern Wisconsin over 500 years. The components of dynamic zoning strategies (number of zones in a scenario and the length of the hiatus between successive entries into zones) and their interaction had highly significant impacts on patterns of forest succession. Dynamic zoning scenarios with more zones and shorter hiatus lengths increased the average amount of the forest dominated by early successional aspen (Populus sp.). Dynamic zoning scenarios with two zones produced more late successional mature northern hardwoods than scenarios with four zones. Dynamic zoning scenarios with very short (30 years) or very long (120 years) hiatus lengths resulted in more late successional mature northern hardwoods than scenarios with intermediate hiatus lengths (60 and 90 years). However, none of the dynamic scenarios produced as much late successional mature northern hardwoods as the static alternative. Furthermore, the amounts of all habitat types in all dynamic zoning scenarios fluctuated greatly in time and space relative to static alternatives, which could negatively impact wildlife species that require a stable amount of habitat above some minimum critical threshold. Indeed, implementing dynamic zoning scenarios of different designs would have both positive and negative effects on wildlife species and for other objectives of forest management.     

Nineteenth-century land-use legacies affect contemporary land abandonment in the Carpathians

Regional Environmental Change - Historical land use may shape landscapes for centuries into the future, but it remains unclear how much land-use legacies affect contemporary land use. Knowing for...     

Acute and chronic effects of nano- and non-nano-scale TiO2 and ZnO particles on mobility and reproduction of the freshwater invertebrate Daphnia magna

Among the emerging literature addressing the biological effects of nanoparticles, very little information exists, particularly on aquatic organisms, that evaluates nanoparticles in comparison to non-nanocounterparts. Therefore, the potential effects of nano-scale and non-nano-scale TiO₂ and ZnO on the water flea, Daphnia magna, were examined in 48-h acute toxicity tests using three different test media, several pigment formulations – including coated nanoparticles – and a variety of preparation steps. In addition, a 21-d chronic Daphnia reproduction study was performed using coated TiO₂ nanoparticles. Analytical ultracentrifugation analyses provided evidence that the nanoparticles were present in a wide range of differently sized aggregates in the tested dispersions. While no pronounced effects on D. magna were observed for nano-scale and non-nano-scale TiO₂ pigments in 19 of 25 acute (48-h) toxicity tests (EC50 > 100 mg L⁻¹), six acute tests with both nano- and non-nano-scale TiO₂ pigments showed slight effects (EC10, 0.5–91.2 mg L⁻¹). For the nano-scale and non-nano-scale ZnO pigments, the acute 48-h EC50 values were close to the 1 mg L⁻¹ level, which is within the reported range of zinc toxicity to Daphnia. In general, the toxicity in the acute tests was independent of particle size (non-nano-scale or nano-scale), coating of particles, aggregation of particles, the type of medium or the applied pre-treatment of the test dispersions. The chronic Daphnia test with coated TiO₂ nanoparticles demonstrated that reproduction was a more sensitive endpoint than adult mortality. After 21 d, the NOEC for adult mortality was 30 mg L⁻¹ and the NOEC for offspring production was 3 mg L⁻¹. The 21-d EC10 and EC50 values for reproductive effects were 5 and 26.6 mg L⁻¹, respectively. This study demonstrates the utility of evaluating nanoparticle effects relative to non-nano-scale counterparts and presents the first report of chronic exposure to TiO₂ nanoparticles in D. magna.     

Housing growth,forests, and public lands in Northern Wisconsin from 1940 to 2000

Rural, forested areas throughout the United States are experiencing strong housing growth with potentially detrimental impacts on the environment. In this paper, we quantify housing growth in Northern Wisconsin over the last sixty years to determine if growth rates were higher near public lands, which may represent an important recreational amenity. We used data from the U.S. Census to produce decadal housing density estimates, “backcasts,” from 1940 to 2000 for northern Wisconsin to examine “rural sprawl” in northern Wisconsin and its relationship to forested areas and public lands. We integrated housing density estimates with the 1992/1993 National Land Cover Dataset to examine the relationship between rural sprawl and land cover, especially forests. Between 1940 and 2000, private land with <2 housing units/km² decreased from 47% to 21% of the total landscape. Most importantly, housing growth was concentrated along the boundaries of public lands. In 14 of the 19 counties that we studied, housing growth rates within 1 km of a public land boundary exceeded growth rates in the remainder of the county, and three of the five counties that did not exhibit this pattern, were the ones with the least amount of public land. Future growth can be expected in areas with abundant natural amenities, highlighting the critical need for additional research and effective natural resource management and regional planning to address these challenges.     

Root exudation, phosphorus acquisition, and microbial diversity in the rhizosphere of white lupine as affected by phosphorus supply and atmospheric carbon dioxide concentration

White lupine (Lupinus albus L.) was used as a phosphorus (P)-efficient model plant to study the effects of elevated atmospheric CO(2) concentrations on (i) P acquisition, (ii) the related alterations in root development and rhizosphere chemistry, and (iii) the functional and structural diversity of rhizosphere microbial communities, on a P-deficient calcareous subsoil with and without soluble P fertilization. In both +P (80 mg P kg(-1)) and -P treatments (no added P), elevated CO(2) (800 micromol mol(-1)) increased shoot biomass production by 20 to 35% and accelerated the development of cluster roots, which exhibit important functions in chemical mobilization of sparingly soluble soil P sources. Accordingly, cluster root formation was stimulated in plants without P application by 140 and 60% for ambient and elevated CO(2) treatments, respectively. Intense accumulation of citrate and increased activities of acid and alkaline phosphatases, but also of chitinase, in the rhizosphere were mainly confined to later stages of cluster root development in -P treatments. Regardless of atmospheric CO(2) concentrations, there was no significant effect on accumulation of citrate or on selected enzyme activities of C, N, and P cycles in the rhizosphere of individual root clusters. Discriminant analysis of selected enzyme activities revealed that mainly phosphatase and chitinase contributed to the experimental variance (81.3%) of the data. Phosphatase and chitinase activities in the rhizosphere might be dominated by the secretion from cluster roots rather than by microbial activity. Alterations in rhizosphere bacterial communities analyzed by denaturing gradient gel electrophoresis (DGGE) were related with the intense changes in root secretory activity observed during cluster root development but not with elevated CO(2) concentrations.