Non-invasive fetal genotyping for maternal alleles with droplet digital PCR: A comparative study of analytical approaches

Objectives

To develop a flexible droplet digital PCR (ddPCR) workflow to perform non-invasive prenatal diagnosis via relative mutation dosage (RMD) for maternal pathogenic variants with a range of inheritance patterns, and to compare the accuracy of multiple analytical approaches.

Methods

Cell free DNA (cfDNA) was tested from 124 archived maternal plasma samples: 88 cases for sickle cell disease and 36 for rare Mendelian conditions. Three analytical methods were compared: sequential probability ratio testing (SPRT), Bayesian and z-score analyses.

Results

The SPRT, Bayesian and z-score analyses performed similarly well with correct prediction rates of 96%, 97% and 98%, respectively. However, there were high rates of inconclusive results for each cohort, particularly for z-score analysis which was 31% overall. Two samples were incorrectly classified by all three analytical methods; a false negative result predicted for a fetus affected with sickle cell disease and a false positive result predicting the presence of an X-linked IDS variant in an unaffected fetus.

Conclusions

ddPCR can be applied to RMD for diverse conditions and inheritance patterns, but all methods carry a small risk of erroneous results. Further evaluation is required both to reduce the rate of inconclusive results and explore discordant results in more detail.     

Atmospheric nitrogen deposition in south-east Scotland: Quantification of the organic nitrogen fraction in wet,dry and bulk deposition

Water soluble organic nitrogen (WSON) compounds are ubiquitous in precipitation and in the planetary boundary layer, and therefore are a potential source of bioavailable reactive nitrogen. This paper examines weekly rain data over a period of 22 months from June 2005 to March 2007 collected in 2 types of rain collector (bulk deposition and “dry + wet” deposition) located in a semi-rural area 15 km southwest of Edinburgh, UK (N55°51′44″, W3°12′19″). Bulk deposition collectors are denoted in this paper as “standard rain gauges”, and they are the design used in the UK national network for monitoring precipitation composition. “Dry + wet” deposition collectors are flushing rain gauges and they are equipped with a rain detector (conductivity array), a spray nozzle, a 2-way valve and two independent bottles to collect funnel washings (dry deposition) and true wet deposition. On average, for the 27 weekly samples with 3 valid replicates for the 2 types of collectors, dissolved organic nitrogen (DON) represented 23% of the total dissolved nitrogen (TDN) in bulk deposition. Dry deposition of particles and gas on the funnel surface, rather than rain, contributed over half of all N-containing species (inorganic and organic). Some discrepancies were found between bulk rain gauges and flushing rain gauges, for deposition of both TDN and DON, suggesting biological conversion and loss of inorganic N in the flushing samplers.     

Effect of spatial variation on salinity tolerance of macroinvertebrates in Eastern Australia and implications for ecosystem protection trigger values

Salinisation of freshwater has been identified as a serious environmental issue in Australia and around the world. Protective concentrations (trigger values) for salinity can be used to manage salinity impacts, though require locally relevant salinity tolerance information. 72-h acute salinity tolerance values were determined for 102 macroinvertebrates collected from 11 locations in four biologically distinct freshwater bio-regions in Northeast Australia and compared with sensitivities observed in Southeast Australia. The salinity tolerance of individual taxa was consistent across Northeast Australia and between Northeast and Southeast Australia. However, two distinct communities were identified in Northeast Australia using distributions of the acute tolerance values and a calculated index of salinity sensitivity. Salinity trigger values should therefore be representative of local or regionally relevant communities and may be adequately calculated using sensitivity values from throughout Eastern Australia. The results presented provide a basis for assessing salinity risk and determining trigger values for salinity in freshwater ecosystems at local and regional scales in Eastern Australia.     

Adsorption of branched alkylbenzene sulfonate onto styrene and acrylic ester resins

In this study, a series of acrylic ester resins were prepared and characterized. The adsorption behaviors of sodium 6-dodecyl benzenesulfonate (6-NaDBS) on styrene resin XAD-4 and acrylic ester resins have been studied. As compared to commercial acrylic ester resins Amberlite XAD-7 and Diaion HP2MG, YWB-38, one of the as-prepared resins, exhibits better adsorption properties toward 6-NaDBS. The experimental equilibrium data were fitted to the Langmuir and double-Langmuir models. The two models provide very good fit for all acrylic ester resins over the temperature range studied, whereas fitted results for styrene resin XAD-4 are less accurate. The investigation indicates that the adsorbate molecules are directly adsorbed on acrylic ester resins as a bi-layer, while the molecules are adsorbed on XAD-4 as monolayer formation followed by the establishment of bi-layer. Adsorption kinetics and elution processes were also investigated for further exploring the adsorption behavior and mechanism on styrene resin XAD-4 and YWB-38.     

Photocatalytic and biodegradation treatments of paracetamol: investigation of the in vivo toxicity

Environmental Science and Pollution Research - Medicines and drugs consumption by all populations of the world can be expected to result in the contamination of the environment since 30–90%...     

Application of environmentally conscious manufacturing strategies for an automotive component

Application of appropriate environmentally conscious manufacturing strategies enables the sustainable development of products and processes. Automotive component manufacturers recognise the potential of applying appropriate strategies for attaining Triple Bottom Line benefits. In this context, three strategies such as eco-efficiency, waste minimisation and material efficiency are being applied to minimise environmental impacts associated with the manufacture of automotive products and its associated processes. A case study of an automotive component manufacturing firm has been exemplified. After conducting the study, the potential environmental impact was reduced by 20% and eco-efficiency was improved by 13%. Further, improvements have been observed in terms of overall resource consumption and material efficiency. The overall power consumption was reduced by 18% and weight of the component was reduced by 11%. The study aimed at improving the sustainable performance of product by incorporating green and environmentally friendlier manufacturing practices.

Abbreviations: USEPA: United Nations Environmental Protection Agency; OECD: Organisation for Economic Co-operation and Development; WBCSD: World Business Council for Sustainable Development; Eco-QFD: Environmental Quality Function Deployment; WCED: World Commission on Environment and Development; LCA: Life Cycle Assessment     

An Exploration of the Value of Naturalness and Wild Nature

The source of the value of naturalness is of considerable relevance for the conservation movement, to philosophers, and to society generally. However, naturalness is a complex quality and resists straightforward definition. Here, two interpretations of what is “natural” are explored. One of these assesses the naturalness of species and ecosystems with reference to a benchmark date, such as the advent of industrialization. The value of naturalness in this case largely reflects prioritization of the value of biodiversity. However, the foundation of our understanding of naturalness is that it describes processes that are free of human intervention. Conflict between the two interpretations of naturalness is apparent in the claim that naturalness can be enhanced by human intervention, in the form of ecological restoration. Although naturalness in its purest form precludes human intervention, some human activities are also apparently more natural than others. This continuum of naturalness relates to the autonomy of the individual from abstract instrumentalism, which describes a particular form of influence ubiquitous in contemporary society. The value of naturalness reflects both dissatisfaction with these threats to personal autonomy, and respect for wild nature as the embodiment of a larger-than-human realm.     

Impacts of farmer field schools on productivity of vegetable farming in Indonesia

This study assesses the impact of farmer field schools (FFS) on the productivity of vegetable farming in vegetable‐producing areas of East Java and Bali, Indonesia. The FFS have equipped over 3,000 vegetable farmers with integrated crop management knowledge applicable to chilies and tomatoes. The FFS are expected to enhance farmers’ capacity such that they can increase production. This study employs a difference‐in‐differences (DiD) method to overcome selection bias. A survey of 250 FFS‐graduated farmers and 250 non‐FFS farmers were purposively randomly selected from the overall community of farmers. Focus group discussion was used to support the survey. The results indicate that FFS were successful for enhancing farmers’ capability in vegetable farming. Farmers who participated in FFS have higher productivity than those who did not. Farmers also could adapt and adopt the knowledge gained from FFS as they underwent a process of learning by doing. The impacts of the increase in farmers’ capacity can be more evident if weaknesses during the FFS preparation and implementation can be overcome, to ensure more participation, flexibility to fit different conditions/needs and continuous learning.     

Conservation or Preservation? A Qualitative Study of the Conceptual Foundations of Natural Resource Management

Few disputes in the annals of US environmentalism enjoy the pedigree of the conservation-preservation debate. Yet, although many scholars have written extensively on the meaning and history of conservation and preservation in American environmental thought and practice, the resonance of these concepts outside the academic literature has not been sufficiently examined. Given the significance of the ideals of conservation and preservation in the justification of environmental policy and management, however, we believe that a more detailed analysis of the real-world use and understanding of these ideas is needed. In this paper, we describe the results of a qualitative, semantic study of the concepts of conservation and preservation undertaken in the context of the Chattahoochee National Forest (CNF), located in northern Georgia (USA). Thirty in-depth interviews were conducted with scientists and north Georgia residents either interested or involved in the future management of the forest. Respondents were asked to define conservation and preservation in their own words and to indicate which approach they felt was more appropriate for the management of the CNF. Qualitative content analysis was used to elicit a set of recurring themes for each foundational concept. Taken together, these themes help to flesh out the meaning of conservation and preservation for citizens and scientists today, and illustrate the evolving nature of two of the more significant and venerable ideas animating US environmental policy and management.