Cornelia de Lange syndrome (CdLS): prenatal and autopsy findings

Cornelia de Lange Syndrome (CdLS) is a multisystem disorder characterized by somatic defects and mental retardation. Prenatal diagnosis of this severe condition is difficult in view of the non-specific ultrasound abnormalities. We report three cases with prenatally suspected CdLS based on the ultrasound findings as well as low PAPP-A detected on first trimester screening in one case, and the results of the autopsy and the NIPBL gene mutation analysis. Copyright © 2009 John Wiley & Sons, Ltd.     

Indices of marine degradation: Their utility

Improved definition of pollutant effects in coastal marine environments is needed for two principal reasons. First, we need better understanding of how much pollutant degradation exists. Then we need more agreement on its social importance. Only then can society decide more consistently and equitably how much pollutant impact is tolerable and how much is too much. Scientists alone cannot define “unreasonable degradation” in a social sense, of course, but we can define quantitative scales of degradation and (together with nonscientists) specify ranges on these scales of “warning” and “alarm.” Rationales are presented for the urgency of these improvements. A strategy is described for indexing the socially relevant features of coastal environments at greatest risk from pollutants. The strategy differs from most existing environmental indices in several respects. Each of the 11 indices proposed is constrained by the following design criteria: (1) socially relevant, (2) simple and easily understood by laymen, (3) scientifically defensible, (4) quantitative and expressed probabilistically, and (5) acceptable in terms of cost. Evaluations of the draft indices are being completed by more than 50 collaborating scientists. One index is described to illustrate the utility of simple, socially relevant measures of marine degradation.     

Synthesis of3H- polyethylene and its use for fate studies on degradable plastics

Determining the fate of xenobiotic materials in the environment can be aided by the use of radioactive isotope technology. Previous research on the degradation of polymers such as polyethylene (PE) was aided by the utilization of radiotracers. In order to study the environmental fate of degradable (PE/starch) plastics, we synthesized³H-labeled PE. Results of soil incubation studies indicate that only minimal degradation of the PE component, as indicated by the production of water-soluble metabolites, occurred during 2 years of incubation in soil. Despite the minimal degradation, the³H label did not allow for detection of the degradation products. In addition, the³H-PE was particularly useful for tracing the fate of degradable plastics after consumption by terrestrial isopods. The detection of aqueous-soluble radioactivity in isopod frass was used to indicate degradation of the plastic film.     

Determination of selected pharmaceuticals and caffeine in sewage and seawater from Tromsø/Norway with emphasis on ibuprofen and its metabolites

Selected pharmaceuticals, among them analgesics, ss-blockers and anti-depressants as well as caffeine, the anti-bacterial triclosan and the insect repellent N,N-diethyl-3-toluamide (DEET) were determined in different sewage samples (sewage treatment plants, hospital effluents) from Troms?/Norway and in seawater from Troms?-Sound, into which the sewage is discharged. While caffeine, triclosan, ibuprofen and its major metabolites hydroxy- and carboxy-ibuprofen were present in all sewage samples, additional pharmaceuticals were observed in sewage containing hospital effluents. Concentrations were in the range of 20-293 microg/l (caffeine), 0.2-2.4 microg/l (triclosan) and 0.1-20 microg/l (sum ibuprofen + metabolites). In seawater, only caffeine (7-87 ng/l), DEET (0.4-13 ng/l) and ibuprofen + metabolites (sum concentration < LOQ-7.7 ng/l) were detected. Ibuprofen and its metabolites hydroxy- and carboxy-ibuprofen were quantified individually by use of the respective reference compounds. Relative amounts of the three compounds were determined in different types of water showing characteristic patterns, with hydroxy-ibuprofen being the major component in sewage whereas carboxy-ibuprofen was dominant in seawater samples. The patterns which were compared to those observed in similar samples from Germany indicated different transformation behaviour under limnic and marine conditions.     

Potential risk to wood storks (Mycteria americana) from mercury in Carolina Bay fish

Carolina bays are freshwater wetlands that serve as important feeding habitats for the endangered wood stork (Mycteria americana). Water levels in these bays fluctuate greatly and tend to be acidic and rich in dissolved organic carbon (DOC), factors that favor mercury (Hg) methylation and bioaccumulation in fish. To assess potential risks to wood storks consuming mercury contaminated fish in bays, we sampled fish from 10 bays on the Savannah River Site (SRS), South Carolina, an area with documented use by wood storks. Whole body mercury concentrations in 258 fishes of three species (Erimyzon sucetta, Acantharchuspomotis and Esox americanus) commonly consumed by wood storks were determined. Risk factors for nestlings and free-ranging adults were calculated using published no and lowest observable adverse effect concentration (NOAEC and LOAEC) values for birds. Fish from higher trophic levels and those from wetlands with relatively shallow maximum depths and fluctuating water levels were more likely to exceed NOAEC and LOAEC values. Calculation of exposure rates of nestling wood storks indicated they are at highest risk during the first 10 days of the nestling period. These calculations suggest that there is potential concern for wood storks foraging in relatively shallow bays with fluctuating water levels, even though there is no obvious local source of mercury to these wetlands.     

Inefficient environmental instruments and the gains from trade

The primary result from the trade and environment literature is that countries never lose from trade liberalization as long as they implement optimal pollution targets or if they hold emissions constant. These results are derived in models where the regulators use efficient instruments such as tradable permits or emission taxes. Regulators, however, continue to prefer command and control instruments. I show that regulation under these inefficient instruments (such as design standards or concentration standards) can lead to net losses under trade liberalization even if emissions are optimally adjusted for trade. Furthermore, holding the line on emissions need not guarantee welfare improvements either. The problem is that institutional distortions, the excess costs of inefficient instruments, can rise with trade and offset the material gains from trade. Hence the presumption that we can achieve gains from trade by considering only the level of emissions fails to recognize that the mode of regulation also matters.     

Physiological response of the cold-seep mussel Bathymodiolus childressi to acutely elevated temperature

It is predicted that deep-sea animals adapted to thermally stable conditions should be highly sensitive to temperature change and should not have inducible heat-shock responses. This premise was tested with the cold-seep mussel Bathymodiolus childressi Gustafson, 1998 from 750 m depth in the Gulf of Mexico at a site known as Brine Pool NR-1 (27°43.4157N, 91°16.756W). Mussels were collected during February 2003. Site temperature, measured in different months between 1995 and 2005, ranged between 6.5 and 7.2°C. Although Brine Pool NR-1 is stenothermal, hydrogen sulfide, oxygen, and salinity vary over temporal and spatial scales. In laboratory experiments, B. childressi survived increases up to approximately 20°C above ambient temperature for 6 h before suffering greater than 50% mortality. Although a high thermal tolerance was observed, B. childressi did not express an inducible 70 kDa heat-shock protein. However, high constitutive levels of hsp70 were present in B. childressi suggesting a necessity to remediate protein damage from stressors other than elevated temperature; these constitutive proteins probably confer an indirect thermal tolerance.     

Population Constraints Associated with the Use of Black Rhinos as an Umbrella Species for Desert Herbivores

The numerous tactics used to conserve biodiversity include the designation of protected areas, political change, and research and education, the latter involving paradigms such as insular biogeography and the "umbrella species concept." In Namibia lands removed from national park status in 1970 and currently under the jurisdiction of indigenous people now contain one of the few unfenced populations of black rhinos (Diceros bicornis) remaining in Africa. Theory predicts that the protection of umbrella species will ensure the survival of other biota that require(s) less space. To gauge how well biodiversity might be retained by examining the spatial needs of a small population of black rhinos, I used data gathered under various ecological conditions to estimate mean and minimum population sizes of six large herbivores of the Namib Desert ranging in size from giraffe (Giraffa camelopardalis) to springbok (Antidorcas marsupialis) and ostrich (Struthio camelus). My results indicate that annual differences in rainfall, both within and between seasons, resulted in wide fluctuations in herbivore population sizes for all species except rhino. Although other herbivores switched to areas of higher rainfall, rhinos did not. The data suggest that under conditions of extreme environmental variance the space used by rhinos alone was unlikely to assure the existence of populations of other species in excess of 250 individuals. Fifty percent of the species failed to exceed 150 individuals 50% of the time and one third of the species never attained populations in excess of 50 individuals. However, by employing assumptions about the spatial needs of rhino populations numbering up to 100 individuals, the mean minimum population sizes attained by any of four desert herbivores is 535. A future challenge in using rhinos and other large-bodied species as umbrellas for organisms of either similar or dissimilar trophic levels will be the refinement of estimates of population viability.