Turner syndrome-omphalocele association: Incidence,karyotype, phenotype and fetal outcome

Objective

Omphalocele is known to be associated with genetic anomalies like trisomy 13, 18 and Beckwith–Wiedemann syndrome, but not with Turner syndrome (TS). Our aim was to assess the incidence of omphalocele in fetuses with TS, the phenotype of this association with other anomalies, their karyotype, and the fetal outcomes.

Method

Retrospective multicenter study of fetuses with confirmed diagnosis of TS. Data were extracted from a detailed questionnaire sent to specialists in prenatal ultrasound.

Results

680 fetuses with TS were included in this analysis. Incidence of small omphalocele in fetuses diagnosed ≥12 weeks was 3.1%. Including fetuses diagnosed before 12 weeks, it was 5.1%. 97.1% (34/35) of the affected fetuses had one or more associated anomalies including increased nuchal translucency (≥3 mm) and/or cystic hygroma (94.3%), hydrops/skin edema (71.1%), and cardiac anomalies (40%). The karyotype was 45,X in all fetuses. Fetal outcomes were poor with only 1 fetus born alive.

Conclusion

TS with 45,X karyotype but not with X chromosome variants is associated with small omphalocele. Most of these fetuses have associated anomalies and a poor prognosis. Our data suggest an association of TS with omphalocele, which is evident from the first trimester.     

Visible light photocatalytic bismuth oxide coatings are effective at suppressing aquatic cyanobacteria and degrading free-floating genomic DNA

Access to safe drinking water free from microbial pollution is an issue of global concern. The use of photocatalytic thin films in water treatment has focused on titanium dioxide, which requires UV-activation, proving a potential barrier to upscaling and implementation in the real world. Visible-light-activated photocatalytic thin films, such as bismuth oxide, have recently been shown to have antimicrobial properties. However, more understanding of the photocatalytic effect on the microbial population in water is required. Glass beads coated with bismuth oxide were incubated with either Microcystis aeruginosa, Anabaena sp. or free-floating genomic DNA. The presence of bismuth oxide-coated glass beads was able to rapidly stop a population of cyanobacteria from increasing. The coated beads were also able to degrade genomic DNA. Leachate from the beads showed no increase in toxicity against human liver cells. This data demonstrates the efficacy of bismuth oxide-coated glass beads for controlling potentially dangerous cyanobacterial populations, whilst potentially reducing the amount of free-floating genomic DNA (an essential issue in the face of antimicrobial resistance) – all of which should be essential considerations in emerging water treatment technologies.     

Environmental impact of highway construction and repair materials on surface and ground waters. Case study: crumb rubber asphalt concrete

The practice of incorporating certain waste products into highway construction and repair materials (CRMs) has become more popular. These practices have prompted the National Academy of Science, National Cooperative Highway Research Program (NCHRP) to research the possible impacts of these CRMs on the quality of surface and ground waters. State department of transportations (DOTs) are currently experimenting with use of ground tire rubber ( crumb rubber) in bituminous construction and as a crack sealer. Crumb rubber asphalt concrete (CR-AC) leachates contain a mixture of organic and metallic contaminants. Benzothiazole and 2(3H)-benzothiazolone (organic compounds used in tire rubber manufacturing) and the metals mercury and aluminum were leached in potentially harmful concentrations (exceeding toxic concentrations for aquatic toxicity tests). CR-AC leachate exhibited moderate to high toxicity for algae ( Selenastrum capriconutum) and moderate toxicity for water fleas ( Daphnia magna). Benzothiazole was readily removed from CR-AC leachate by the environmental processes of soil sorption, volatilization, and biodegradation. Metals, which do not volatilize or photochemically or biologically degrade, were removed from the leachate by soil sorption. Contaminants from CR-AC leachates are thus degraded or retarded in their transport through nearby soils and ground waters.     

Quantification of mass fluxes and natural attenuation rates at an industrial site with a limited monitoring network: a case study

At many "real world" field sites, the number of available monitoring wells is limited due to economic or geological reasons. Under such restricted conditions, it is difficult to perform a reliable field investigation and to quantify primary lines of evidence for natural attenuation (NA), like the documentation of a decrease of contaminant mass flux in flow direction. This study reports the results of a groundwater investigation at a former manufactured gas plant situated in a Quaternary river valley in southwest Germany. The location, infrastructure and aquifer setting are typical of many industrial sites in Germany. Due to difficult drilling conditions (coarse glaciofluvial gravel deposits and an anthropogenic fill above the aquifer), only 12 monitoring wells were available for the investigation and localisation of the contaminant plume. These wells were situated along three control planes (CP) downgradient from the contaminant source, with four wells along each plane. Based on the sparse set of monitoring wells, field scale mass fluxes and first-order natural attenuation rate constants of benzene, toluene, ethylbenzene, and o-xylene and p-xylene (BTEX) and low molecular weight polycyclic aromatic hydrocarbons (PAH) were estimated utilizing different point scale and also a new integral investigation method. The results show that even at a heterogeneous site with a sparse monitoring network point scale investigation methods can provide reliable information on field scale natural attenuation rates, if a dependable flow model or tracer test data is available. If this information is not available, only the new integral investigation method presented can yield adequate results for the quantification of contaminant mass fluxes under sparse monitoring conditions.     

Measuring the impact of dynamic antipredator traits on predator-prey-resource interactions

This article analyzes the limitations of the most widely used method for quantifying the impact of dynamic antipredator traits on food chain dynamics and discusses alternative approaches. The standard method for a predator-prey-resource chain estimates the effects of the prey's defensive behavior by comparing population densities or fitness measures in a "predator cue" treatment to those in a no-predator treatment. This design has been interpreted as providing a measure of the "nonconsumptive effect" of the predator on the prey and the "trait-mediated indirect effect" of the predator on the resource. Other approaches involve measurements of the impact of the behavior in the presence of functional predators. The questions addressed here are: (1) How consistent are the results of different approaches? (2) How time-dependent are their results? (3) How well do they correspond to theoretical measures of effect size? (4) How useful are the measurements in understanding system dynamics? A model of a tritrophic system in which the prey species adjusts a defensive trait adaptively is used to evaluate the experimental designs. Measures of changes in prey fitness or population density in a cue treatment generally include offsetting effects of the cost of the behavior and the benefit of more resources. This means that the sign of the effect, as well as its magnitude, may change depending on when the experiment is terminated. Because predation is not present in the cue treatment, few conclusions can be drawn about the impact of the behavior on population densities or fitness of the prey in a natural setting with predators. Cue experiments often do not accurately separate trait-mediated from density-mediated effects on the resource. Most scalar measures of effects are sensitive to experimental duration and initial densities. Use of a wider range of experimental designs to measure trait-related effects is called for.     

Biofilm grazing in a higher vertebrate: the western sandpiper, Calidris mauri

We show that a higher vertebrate can graze surficial intertidal biofilm, previously only considered a food source for rasping invertebrates and a few specialized fish. Using evidence from video recordings, stomach contents, and stable isotopes, we describe for the first time the grazing behavior of Western Sandpipers (Calidris mauri) and estimate that biofilm accounts for 45-59% of their total diet or 50% of their daily energy budget. Our finding of shorebirds as herbivores extends the trophic range of shorebirds to primary consumers and potential competitors with grazing invertebrates. Also, given individual grazing rates estimated at seven times body mass per day and flock sizes into the tens of thousands, biofilm-feeding shorebirds could have major impacts on sediment dynamics. We stress the importance of the physical and biological processes maintaining biofilm to shorebird and intertidal conservation.     

Fish distributions and nutrient cycling in streams: can fish create biogeochemical hotspots?

Rates of biogeochemical processes often vary widely in space and time, and characterizing this variation is critical for understanding ecosystem functioning. In streams, spatial hotspots of nutrient transformations are generally attributed to physical and microbial processes. Here we examine the potential for heterogeneous distributions of fish to generate hotspots of nutrient recycling. We measured nitrogen (N) and phosphorus (P) excretion rates of 47 species of fish in an N-limited Neotropical stream, and we combined these data with population densities in each of 49 stream channel units to estimate unit- and reach-scale nutrient recycling. Species varied widely in rates of N and P excretion as well as excreted N:P ratios (6-176 molar). At the reach scale, fish excretion could meet >75% of ecosystem demand for dissolved inorganic N and turn over the ambient NH4 pool in <0.3 km. Areal N excretion estimates varied 47-fold among channel units, suggesting that fish distributions could influence local N availability. P excretion rates varied 14-fold among units but were low relative to ambient concentrations. Spatial variation in aggregate nutrient excretion by fish reflected the effects of habitat characteristics (depth, water velocity) on community structure (body size, density, species composition), and the preference of large-bodied species for deep runs was particularly important. We conclude that the spatial distribution of fish could indeed create hotspots of nutrient recycling during the dry season in this species-rich tropical stream. The prevalence of patchy distributions of stream fish and invertebrates suggests that hotspots of consumer nutrient recycling may often occur in stream ecosystems.     

Parasites prevent summer breeding in white-footed mice, Peromyscus leucopus

Food and parasites can independently play a role in destabilizing population fluctuations of animals, and yet, more than 50 years ago, David Lack proposed that these two factors should act in concert. We examined the role of these factors on the vital rates of free-living white-footed mice (Peromyscus leucopus) over the summer and autumn months. We used a replicated factorial experiment in which deer exclosures doubled acorn availability and anthelmintic application reduced gastrointestinal helminths. Specifically, we wanted to know if either factor or an interaction between the two accounted for the midsummer breeding hiatus observed in this species. We found no influence of habitat quality on mouse breeding, vital rates, or demography; however, anthelmintic treatment resulted in mice continuing to reproduce during the hiatus at the same rate as previously, and they also exhibited increased body condition, growth rate, and survival. These results provide evidence that gastrointestinal helminths reduce P. leucopus reproductive output in central Pennsylvania, and these effects on reproduction could play a role in the unstable dynamics of small mammals.     

Fine-scale chemical fingerprinting of an open coast crustacean for the assessment of population connectivity

Chemical fingerprinting techniques recently have been used to track larval dispersal of estuarine species that bear calcified structures, but the applicability of this important approach may be limited on the open coast where chemical signatures may be less distinctive and for the many species that do not retain calcified structures throughout development. Externally brooded embryos of the porcelain crab, Petrolisthes cinctipes, and inductively coupled plasma mass spectrometry were used to determine whether fine-scale variation in trace-elemental composition occurred along an open coast. Embryos were collected from 16 sites from 37.8° to 39.5° north latitude along the Pacific Coast of California, USA during late January and early February 2003. Discriminant function analysis revealed that collection sites, many separated by only a few kilometers along an open coast, could be differentiated with an overall accuracy of 73%, and combining the sites into three regions increased the accuracy to 88%. Thus, distinctive elemental signatures can be detected in open coast species even at a fine scale raising the possibility that larval tags can be developed for many more species than previously thought possible.     

Epithelial immunity in a marine invertebrate: a cytolytic activity from a cuticular secretion of the American horseshoe crab, <Emphasis Type="Italic">Limulus polyphemus</Emphasis>

The cuticle of the American horseshoe crab, Limulus polyphemus, is largely free of the macroscopic epibionts that rapidly colonize most solid surfaces exposed to sea water. Here, we describe a viscous surface secretion that coats the carapace of the horseshoe crab. We report methods for stimulating production of the substance, identify hemolytic and liposome-permeabilizing activities and provide a partial biochemical characterization. We propose that this secretion functions as an anti-fouling agent protecting the chitinized epithelium of the cuticle from colonization by deleterious epibionts.