Toxicity of water and sediment in a small urban river (Store Vejleå, Denmark)

The urban stream Store Vejle? (Denmark), which receives discharges of urban runoff, was investigated using a combination of biological toxicity tests and chemical analysis. The urban stormwater and road runoff gave low, but statistically significant, effects on the reproduction of the alga Pseudokirchneriella subcapitata. In all pre-concentrated water samples toxic effects were found and differences in toxicity depending on time and location of sampling were identified. Undiluted pore water samples from sediments collected in the stream were all toxic towards the algae and dilutions from 4 to 14 times were needed compared to a pore water sample from an unpolluted stream where a dilution factor of only 1.6 was required. A qualitative correlation between the toxicity of the pore water and the degree of pollution as evidenced by the metal concentration was observed, but statistically significant correlations could not be established by ranking procedures of, e.g. metal content or PAH-concentrations versus the observed toxicity.     

Emissions from an automobile fire

The emissions from automobile fires have been investigated. The main gas phase components were analysed in small-scale tests with representative material from an automobile. A more detailed investigation of full-scale simulated automobile fires was also conducted, including the characterisation of gas phase components, particulates and run-off water from extinguishing activities. Three separate full scale fire tests have been characterised: a fire ignited and developed in the engine compartment; a fire ignited inside the coupé, that was extinguished in the early stages; and a similar fire ignited inside the coupé that was allowed to spread until the entire vehicle was involved in the fire. The quantitative analysis of the smoke gases from the full-scale fires showed that emissions with a potentially negative impact on the environment, or chronic toxic effect on humans, were produced in significant quantities. These emissions included HCl, SO2, VOCs (e.g. benzene), PAHs, and PCDDs/PCDFs. Analysis of run-off water indicated that it was severely contaminated, containing elevated levels of both organic compounds and metals. Comparison with data from other vehicle fires found in the literature shows that contamination by lead, copper, zinc, and antimony appears to be significant in water run-off from these types of fires.     

Predicting low biota to sediment accumulation factors of PAHs by using infinite-sink and equilibrium extraction methods as well as BC-inclusive modeling

Sequestration of polycyclic aromatic hydrocarbons (PAHs) results in the slow release of PAHs from sediment to the aqueous environment, thus limiting bioavailability. Three methods to account for the limited bioavailability of native PAHs to the gastropod Hinia reticulata were therefore investigated: (i) infinite-sink extractions that measure desorption; (ii) equilibrium extractions that measure freely dissolved pore water concentrations and (iii) black carbon-inclusive modeling. The rapidly desorbing fraction was estimated based on the amount desorbed by Tenax. Relatively small amounts of PAHs (<9%) were present in F(rapid) and the observed solid-water distribution ratios (K(d,obs)) were approximately 1-2 orders of magnitude higher than literature K(oc) values. Biota to sediment accumulation factors (BSAFs) measured in the gastropod H. reticulata ranged from 0.02 to 0.07, 10-140 times lower than the theoretical value of approximately 1-2. The BSAFs calculated using the rapidly desorbing fraction or freely dissolved aqueous concentrations were also much lower than the theoretical value, and median values differed from the measured BSAFs by only a factor of 1.5-9. Furthermore, the result of using a BC-inclusive BSAF model could explain the deviation from the theoretical BSAF value and account for the low bioavailability of these native PAHs to H. reticulata. Risk assessment strategies of in situ contamination should therefore include a combination of chemical methods accounting for bioavailability, as well as bioaccumulation studies.     

Noninvasive prenatal screening for cystic fibrosis using circulating trophoblasts: Detection of the 50 most common disease-causing variants

Objectives

Cystic fibrosis (CF) is one of the most common severe autosomal recessive disorders. Prenatal or preconception CF screening is offered in some countries. A maternal blood sample in early pregnancy can provide circulating trophoblasts and offers a DNA source for genetic analysis of both the mother and the fetus. This study aimed to develop a cell-based noninvasive prenatal test (NIPT) to screen for the 50 most common CF variants.

Methods

Blood samples were collected from 30 pregnancies undergoing invasive diagnostics and circulating trophoblasts were harvested in 27. Cystic fibrosis testing was conducted using two different methods: by fragment length analysis and by our newly developed NGS-based CF analysis.

Results

In all 27 cases, cell-based NIPT provided a result using both methods in agreement with the invasive test result.

Conclusion

This study shows that cell-based NIPT for CF screening provides a reliable result without the need for partner- and proband samples.     

Longitudinal monitoring of neutral and adaptive genomic diversity in a reintroduction

Restoration programs in the form of ex-situ breeding combined with reintroductions are becoming critical to counteract demographic declines and species losses. Such programs are increasingly using genetic management to improve conservation outcomes. However, the lack of long-term monitoring of genetic indicators following reintroduction prevents assessments of the trajectory and persistence of reintroduced populations. We carried out an extensive monitoring program in the wild for a threatened small-bodied fish (southern pygmy perch, Nannoperca australis) to assess the long-term genomic effects of its captive breeding and reintroduction. The species was rescued prior to its extirpation from the terminal lakes of Australia's Murray-Darling Basin, and then used for genetically informed captive breeding and reintroductions. Subsequent annual or biannual monitoring of abundance, fitness, and occupancy over a period of 11 years, combined with postreintroduction genetic sampling, revealed survival and recruitment of reintroduced fish. Genomic analyses based on data from the original wild rescued, captive born, and reintroduced cohorts revealed low inbreeding and strong maintenance of neutral and candidate adaptive genomic diversity across multiple generations. An increasing trend in the effective population size of the reintroduced population was consistent with field monitoring data in demonstrating successful re-establishment of the species. This provides a rare empirical example that the adaptive potential of a locally extinct population can be maintained during genetically informed ex-situ conservation breeding and reintroduction into the wild. Strategies to improve biodiversity restoration via ex-situ conservation should include genetic-based captive breeding and longitudinal monitoring of standing genomic variation in reintroduced populations.