The benefits and limitations of cell-free DNA screening for 22q11.2 deletion syndrome

Cell-free DNA testing is increasingly being used to screen pregnant women for fetal aneuploidy. This technology may also identify microdeletion syndromes, including 22q11.2 deletion syndrome, the most common microdeletion syndrome, and the 22q11.2 duplication syndrome. The purpose of this paper is to provide an overview of the 22q11.2 deletion syndrome, to review the early experience with cell-free DNA screening for this deletion and to consider the potential benefits that may be associated with prenatal detection of the deletion. © 2016 John Wiley & Sons, Ltd.     

Public sector perspectives and policy implications for the Pitons Management Area World Heritage Site,St. Lucia

St. Lucia faces numerous challenges associated with striking a balance between its economic and conservation goals with respect to the Pitons Management Area (PMA) World Heritage Site. Among the various stakeholders, the public sector, which largely constitutes the administrative authorities representing the general public, plays an instrumental role in site management. They are primarily responsible for policy formulation as well as the provision of fiscal incentives and funds to assist in the maintenance of the site. Based on a qualitative inquiry approach, this study explored the perspectives of key persons among pertinent public and non-profit organizations. Semi-structured interviews were conducted among local and national representatives from the public sector. Results revealed that the designation of the PMA as a World Heritage Site has presented both opportunities and challenges to the management of the site. Findings strongly indicate that the integrity and sustainability of the site is at stake due to a lack of commitment, coordination and political will in the public sector.     

A landscape-scale framework to identify refugia from multiple stressors

From a conservation perspective, quantifying potential refugial capacity has been predominantly focused on climate refugia, which is critical for maintaining the persistence of species and ecosystems. However, protection from other stressors, such as human-induced changes in fire and hydrology, that cause habitat loss, degradation, and fragmentation is also necessary to ensure that conservation efforts focused on climate are not undermined by other threats. Thus, conceptual and methodological advances for quantifying potential refugia from multiple anthropogenic stressors are important to support conservation efforts. We devised a new conceptual approach, the domains of refugia, for assessing refugial capacity that identifies areas where exposure to multiple stressors is low. In our framework, patterns of environmental variability (e.g., increased frequency of warm summers), thresholds of resilience, and extent and intensity of stressors are used to identify areas of potential refugia from a suite of ongoing anthropogenic stressors (e.g., changes in fire regime). To demonstrate its utility, we applied the framework to a Southern California landscape. Sites with high refugial capacity (super-refugia sites) had on average 30% fewer extremely warm summers, 20% fewer fire events, 10% less exposure to altered river channels and riparian areas, and 50% fewer recreational trails than the surrounding landscape. Our results suggest that super-refugia sites (∼8200 km²) for some natural communities are underrepresented in the existing protected area network, a finding that can inform efforts to expand protected areas. Our case study highlights how considering exposure to multiple stressors can inform planning and practice to conserve biodiversity in a changing world.     

Application of statistical modeling to optimize a coastal water quality monitoring program

The long-term water quality monitoring program implemented by the Massachusetts Water Resources Authority in 1992 is extensive and has provide substantial understanding of the seasonality of the waters in both Boston Harbor and Massachusetts Bay and the response to improvements in effluent quality and offshore transfer of the effluent in September 2000. The monitoring program was designed with limited knowledge of spatial and temporal variability and long-term trends within the system. This led to an extensive spatial and temporal sampling program. The data through 2003 showed high correlation within physical parameters measured (e.g., salinity, dissolved oxygen) and in biological measures such as chlorophyll fluorescence. To address the potential sampling redundancies in the measurement program, an assessment of the impact of reduced levels of monitoring on the ability to make water quality decisions was completed. The optimization was conducted by applying statistical models that took into account whether there was evidence of a seasonal pattern in the data. The optimization used model survey average readings to identify temporal fixed effects, model survey-average-corrected individual station readings to identify spatial fixed effects, corrected the individual station readings for temporal and spatial fixed effects and derived a correlation model for the corrected data, and applied the correlation model to characterize the correlation of annual average readings from reduced monitoring programs with true parameter levels. Reductions in the number of sampling stations were found less detrimental to the quality of the data for annual decision-making than reductions in the number of surveys per year, although there is less of a difference in this regard for dissolved oxygen than there is for chlorophyll. The analysis led to recommendations for a substantially lower monitoring effort with minimal loss of information. The recommendation supported an annual budget savings of approximately $183,000. Most of the savings was from fewer surveys as approximately $21,000 came from the reduction in the number of stations monitored from 21 to 7 and associated laboratory analytical costs.     

Bacterial community structure in soils contaminated by polycyclic aromatic hydrocarbons

Bacterial community structure was examined in polycyclic aromatic hydrocarbon (PAH) contaminated soil taken from a timber treatment facility in southern Ireland. Profiles of soil bacterial communities were generated using a molecular fingerprinting technique, terminal restriction fragment length polymorphism (TRFLP), and results were interpreted using sophisticated multivariate statistical analysis. Findings suggested that there was a correlation between PAH structure and bacterial community composition. Initial characterisation of soil from the timber treatment facility indicated that PAH contamination was unevenly distributed across the site. Bacterial community composition was correlated with the type of PAH present, with microbial community structure associated with soil contaminated with two-ringed PAHs only being distinctly different to communities in soils contaminated with multi-component PAH mixtures. Typically the number of bacterial ribotypes detected in samples did not appear to be adversely affected by the level of contamination.     

Fetal cerebral hemorrhage due to X-linked GATA1 gene mutation

We report a multiplex family with a GATA1 gene mutation responsible for a massive fetal cerebral hemorrhage occurring at 36 weeks. Two other stillbirth cousins presented with fetal hydrops and congenital hemochromatosis' phenotype at 37 and 12 weeks of gestation. Molecular screening revealed the presence of a c.613G>A pathogenic allelic variation in exon 4 of GATA1 gene in the 3 male siblings and their carrier mothers. The diagnosis of a GATA1 gene mutation may be suspected in cases of male fetuses with intracerebral bleeding, particularly if a history of prior fetal loss(es) and mild maternal thrombocytopenia are also present.     

Indicator Taxa, Rapid Biodiversity Assessment, and Nestedness in an Endangered Ecosystem

Abstract: To prioritize areas for conservation, biologists and managers need information on species diversity in threatened habitats. The resources available for such inventories remain severely limited, increasing the need to develop speedier ways to estimate the status of target habitats. We present a study of the use of such techniques in the highly fragmented oak savannas of southern Ontario, including selection of indicator taxa, use of rapid biodiversity assessment based on morphospecies, and analysis of community structure. We found that butterflies and skippers can be used to predict richness among Hymenoptera in the study sites, which is consistent with the hypothesis that these easily surveyed Lepidoptera are good candidates for indicator status. Richness values for hymenoptera morphospecies in these savanna remnants were strongly correlated with species richness scores as estimated by systematists, although nonspecialists tended to "split" species into more than one morphospecies. Finally, both the Hymenoptera and Lepidoptera communities in these oak savannas exhibited a high degree of nestedness, suggesting that local extinctions, mostly undocumented, are important determinants of the richness patterns across these widely separated savanna study sites. We found no evidence of significant spatial autocorrelation, probably because of the wide separation of study sites.