Prenatal diagnosis of CLCN4-related neurodevelopmental disorder in fetuses with congenital brain anomalies

We report two male fetuses born to a healthy unrelated couple, with agenesis of the corpus callosum identified on detailed 20-week ultrasound scans and confirmed by in-utero MRI. Whole-genome sequencing identified a likely pathogenic missense variant in the CLCN4 gene, establishing this as the causative gene in the family. Pathogenic variants in the CLCN4 gene cause a neurodevelopmental disorder (also called Raynaud-Claes syndrome) inherited in an X-linked pattern. The disorder is characterised by developmental delay, intellectual disability, autism spectrum disorder, epilepsy, mental health conditions, and significant feeding difficulties, predominantly, but not exclusively, affecting males. This is the first report of a prenatal phenotype associated with variants in the CLCN4 gene. The diagnosis of the CLCN4-related neurodevelopmental disorder in this family allowed accurate genetic counseling and discussion of reproductive choices. This leaves uncertainty about the possibility of a postnatal neurodevelopmental phenotype in heterozygous females, which we discuss.     

A Microcomputer-based Forecasting Model: Potential Applications for Emergency Response Plans and Air Quality Studies

Most atmospheric transport and diffusion models within emergency response systems have very limited physics and are forced to rely on the assumption that wind and turbulence conditions at the time of the release will be representative over the period for which dispersion must be predicted. For releases where the principal concern is about the first few kilometers of travel, such an assumption is appropriate. However, for large accidental releases during stable conditions, the plume may travel for several hours before it is diluted to safe levels and the assumption of persistence may be inappropriate, particularly for transport in complex terrain. Under these circumstances, a model that can forecast changes in wind and turbulence conditions is required. We have installed such a model on microcomputers and tested it in complex terrain near Salt Lake City. One-hour tracer releases produced surface concentrations that remain high for much longer times than that expected based on one hour’ travel time with the mean wind at the source height. Furthermore, relatively large concentrations were found at distances of over 40 km from the source. The model was generally able to reproduce the principal features described by the measurements, although some effects of subgrid scale terrain were missed.     

Tagging Diesel and Residential Oil Furnace Emissions in Roanoke,Virginia, with Enriched Isotopes of Samarium

Stable isotopic tracers were used in Roanoke, Virginia, to tag particulate emissions from diesel trucks and residential oil furnaces, two sources of soot and PAHs which cannot be differentiated on the basis of known constituents. Approximately 1.6 g of enriched ¹⁴⁹Sm were used to tag 264 m³ of diesel fuel burned by the city bus and truck fleets; 0.39 g of ¹⁵⁰Sm were used to tag 106 m³ of residential heating oil. Picogram amounts of the tracers were determined simultaneously by thermal-ionization mass spectrometry in fine particles collected within the city at signal-to-noise ratios as large as 6000. These results demonstrate the feasibility of tracing particles from multiple combustion sources with stable, separated isotopes.     

Public perception of odour and environmental pollution attributed to MSW treatment and disposal facilities: A case study

If residents’ perceptions, concerns and attitudes towards waste management facilities are either not well understood or underestimated, people can produce strong opposition that may include protest demonstrations and violent conflicts such as those experienced in the Campania Region of Italy. The aim of this study was to verify the effects of the closure of solid waste treatment and disposal facilities (two landfills and one RDF production plant) on public perception of odour and environmental pollution. The study took place in four villages in Southern Italy. Identical questionnaires were administered to residents during 2003 and after the closure of the facilities occurred in 2008. The residents’ perception of odour nuisance considerably diminished between 2003 and 2009 for the nearest villages, with odour perception showing an association with distance from the facilities. Post closure, residents had difficulty in identifying the type of smell due to the decrease in odour level. During both surveys, older residents reported most concern about the potentially adverse health impacts of long-term exposure to odours from MSW facilities. However, although awareness of MSW facilities and concern about potentially adverse health impacts varied according to the characteristics of residents in 2003, substantial media coverage produced an equalisation effect and increased knowledge about the type of facilities and how they operated. It is possible that residents of the village nearest to the facilities reported lower awareness of and concern about odour and environmental pollution because the municipality received economic compensation for their presence.     

Pyrolysis of waste tyres: A review

Approximately 1.5 billion tyres are produced each year which will eventually enter the waste stream representing a major potential waste and environmental problem. However, there is growing interest in pyrolysis as a technology to treat tyres to produce valuable oil, char and gas products. The most common reactors used are fixed-bed (batch), screw kiln, rotary kiln, vacuum and fluidised-bed. The key influence on the product yield, and gas and oil composition, is the type of reactor used which in turn determines the temperature and heating rate. Tyre pyrolysis oil is chemically very complex containing aliphatic, aromatic, hetero-atom and polar fractions. The fuel characteristics of the tyre oil shows that it is similar to a gas oil or light fuel oil and has been successfully combusted in test furnaces and engines. The main gases produced from the pyrolysis of waste tyres are H₂, C₁–C₄ hydrocarbons, CO₂, CO and H₂S. Upgrading tyre pyrolysis products to high value products has concentrated on char upgrading to higher quality carbon black and to activated carbon. The use of catalysts to upgrade the oil to a aromatic-rich chemical feedstock or the production of hydrogen from waste tyres has also been reported. Examples of commercial and semi-commercial scale tyre pyrolysis systems show that small scale batch reactors and continuous rotary kiln reactors have been developed to commercial scale.     

Evolving social influence in large populations

Darwinian studies of collective human behaviour, which deal fluently with change and are grounded in the details of social influence among individuals, have much to offer “social” models from the physical sciences which have elegant statistical regularities. Although Darwinian evolution is often associated with selection and adaptation, “neutral” models of drift are equally relevant. Building on established neutral models, we present a general, yet highly parsimonious, stochastic model, which generates an entire family of real-world, right-skew socio-economic distributions, including exponential, winner-take-all, power law tails of varying exponents, and power laws across the whole data. The widely used Barabási and Albert (1999) Science 286: 509-512 “B-A” model of preferential attachment is a special case of this general model. In addition, the model produces the continuous turnover observed empirically within these distributions. Previous preferential attachment models have generated specific distributions with turnover using arbitrary add-on rules, but turnover is an inherent feature of our model. The model also replicates an intriguing new relationship, observed across a range of empirical studies, between the power law exponent and the proportion of data represented in the distribution.     

Lethal and sublethal effects of the pyrethroid,bifenthrin, on grass shrimp (Palaemonetes pugio) and sheepshead minnow (Cyprinodon variegatus)

This study investigated the lethal and sublethal effects of the pyrethroid insecticide bifenthrin on adult and larval grass shrimp, Palaemonetes pugio, and adult sheepshead minnows, Cyprinodon variegatus. The effects were determined by conducting 96-h aqueous static renewal tests and 24-h static tests with sediment. Oxidative stress biomarkers, lipid peroxidation, glutathione, and catalase were also assessed. The 96-h aqueous LC₅₀ value for adult shrimp was 0.020 μ g/L (95% CI: 0.015–0.025 μ g/L) and for larval shrimp was 0.013 μ g/L (95% CI: 0.011–0.016 μ g/L). The 96-h aqueous LC₅₀ for adult sheepshead minnow was 19.806 μ g/L (95% CI: 11.886–47.250 μ g/L). The 24-h sediment LC₅₀ for adult shrimp was 0.339 μ g/L (95% CI: 0.291–0.381 μ g/L) and for larval shrimp was 0.210 μ g/L (95% CI: 0.096–0.393 μ g/L). The oxidative stress assays showed some increasing trends toward physiological stress with increased bifenthrin concentrations but they were largely inconclusive. Given the sensitivity of grass shrimp to this compound in laboratory bioassays, additional work will be needed to determine if these exposure levels are environmentally relevant.