cfDNA screening and diagnosis of monogenic disorders – where are we heading?

Cell-free fetal DNA analysis for non-invasive prenatal screening of fetal chromosomal aneuploidy has been widely adopted for clinical use. Fetal monogenic diseases have also been shown to be amenable to non-invasive detection by maternal plasma DNA analysis. A number of recent technological developments in this area has increased the level of clinical interest, particularly as one approach does not require customized reagents per mutation. The mutational status of the fetus can be assessed by determining which parental haplotype that fetus has inherited based on the detection of haplotype-associated SNP alleles in maternal plasma. Such relative haplotype dosage analysis requires the input of the parental haplotype information for interpretation of the fetal inheritance pattern from the maternal plasma DNA data. The parental haplotype information can be obtained by direct means, reducing the need to infer haplotypes using DNA from other family members. The technique also allows the assessment of complex mutations and has multiplexing capabilities where a number of genes and mutations can be assessed at the same time. These advantages allow non-invasive prenatal diagnosis of fetal monogenic diseases to be much more scalable. These applications may drive the next wave of clinical adoption of cell-free fetal DNA testing. © 2018 The Authors Prenatal Diagnosis Published by John Wiley & Sons Ltd     

Contributions of paraecologists and parataxonomists to research,conservation, and social development

Citizen science has been gaining momentum in the United States and Europe, where citizens are literate and often interested in science. However, in developing countries, which have a dire need for environmental data, such programs are slow to emerge, despite the large and untapped human resources in close proximity to areas of high biodiversity and poorly known floras and faunas. Thus, we propose that the parataxonomist and paraecologist approach, which originates from citizen‐based science, is well suited to rural areas in developing countries. Being a paraecologist or a parataxonomist is a vocation and entails full‐time employment underpinned by extensive training, whereas citizen science involves the temporary engagement of volunteers. Both approaches have their merits depending on the context and objectives of the research. We examined 4 ongoing paraecologist or parataxonomist programs in Costa Rica, India, Papua New Guinea, and southern Africa and compared their origins, long‐term objectives, implementation strategies, activities, key challenges, achievements, and implications for resident communities. The programs supported ongoing research on biodiversity assessment, monitoring, and management, and participants engaged in non‐academic capacity development in these fields. The programs in Southern Africa related to specific projects, whereas the programs in Costa Rica, India, and Papua New Guinea were designed for the long term, provided sufficient funding was available. The main focus of the paraecologists’ and parataxonomists’ activities ranged from collection and processing of specimens (Costa Rica and Papua New Guinea) or of socioeconomic and natural science data (India and Southern Africa) to communication between scientists and residents (India and Southern Africa). As members of both the local land user and research communities, paraecologists and parataxonomists can greatly improve the flow of biodiversity information to all users, from local stakeholders to international academia.     

Impacts of Social and Demographic Factors on Residents’ Subjective Well-being in Rural China

Abstract

The objective of social development is to construct a harmonious society. In China, the key to a harmonious society is the happiness of more than 900 million farmers living in the rural areas. This study aimed to measure rural residents’ subjective well-being (SWB) through the day reconstruction method, as well as to analyze SWB’s influencing factors through a variety of statistical methods. The results showed that the average U index was 12.79%, indicating that respondents were unhappy 12.79% of the time. Twenty-seven percent of the population had a U index greater than 0, with the average value being 47%, indicating that these people were unhappy 47% of the time. The study also found that SWB varied according to the characteristics of the respondents. Logistic regression analysis showed that social and demographic factors, including age, education, county, household size, generation number, per capita income, migration status and social networking, which significantly affected rural residents’ SWB. The size of the impact varied with the different factors.     

Impacts of Social and Demographic Factors on Residents＇ Subjective Well-being in Rural China

The objective of social development is to construct a harmonious society.In China,the key to a harmonious society is the happiness of more than 900 million farmers living in the rural areas.This study aimed to measure rural residents' subjective well-being(SWB) through the day reconstruction method,as well as to analyze SWB's influencing factors through a variety of statistical methods.The results showed that the average U index was 12.79%,indicating that respondents were unhappy 12.79% of the time.Twenty-seven percent of the population had a U index greater than 0,with the average value being 47%,indicating that these people were unhappy 47% of the time.The study also found that SWB varied according to the characteristics of the respondents.Logistic regression analysis showed that social and demographic factors,including age,education,county,household size,generation number,per capita income,migration status and social networking,which significantly affected rural residents' SWB.The size of the impact varied with the different factors.     

Phytoremediation as a management option for contaminated sediments in tidal marshes, flood control areas and dredged sediment landfill sites

Background, aim and scope  

Polluted sediments in rivers may be transported by the river to the sea, spread over river banks and tidal marshes or managed, i.e. actively dredged and disposed of on land. Once sedimented on tidal marshes, alluvial areas or control flood areas, the polluted sediments enter semi-terrestrial ecosystems or agro-ecosystems and may pose a risk. Disposal of polluted dredged sediments on land may also lead to certain risks. Up to a few years ago, contaminated dredged sediments were placed in confined disposal facilities. The European policy encourages sediment valorisation and this will be a technological challenge for the near future. Currently, contaminated dredged sediments are often not valorisable due to their high content of contaminants and their consequent hazardous properties. In addition, it is generally admitted that treatment and re-use of heavily contaminated dredged sediments is not a cost-effective alternative to confined disposal. For contaminated sediments and associated disposal facilities used in the past, a realistic, low cost, safe, ecologically sound and sustainable management option is required. In this context, phytoremediation is proposed in the literature as a management option. The aim of this paper is to review the current knowledge on management, (phyto)remediation and associated risks in the particular case of sediments contaminated with organic and inorganic pollutants.     

Rapid prenatal diagnosis of trisomy 18 and triploidy in interphase nuclei of uncultured amniocytes by non-radioactive in situ hybridization

Two biotinylated chromosome-specific DNA probes were used to quantify the number of chromosomes 18 and 1 in uncultured amniocytes. Thirty-three samples of uncultured amniocytes were hybridized with a chromosome 18-specific DNA probe. Uncultured cells from two of the 33 samples were also hybridized with a chromosome 1-specific probe. Thirty of the samples were disomic with respect to chromosome 18; two samples were trisomic with respect to chromosome 18, and one sample was trisomic with respect to chromosomes 1 and 18. The two cases of trisomy 18 and the single case of triploidy were identified on uncultured celis within 48-72 h after amniocentesis. They were found among five samples from pregnant women who had amniocentesis because of an ultrasonographically identified fetal malformation. A trisomic karyotype could be diagnosed with certainty in uncultured amniocytes because the majority of the responding nuclei exhibited three hybridization signals. In normal cells, the majority of nuclei exhibited two signals. In no cases was there discordance between the genotype as predicted by in situ hybridization and that determined by cytogenetic analysis.     

Nutrient release from fish silage using microwave-enhanced advanced oxidation process

The microwave-enhanced advanced oxidation process was used to treat fish silage for nutrient release and solids reduction prior to its use as a fertilizer for greenhouse operations. Fifteen sets of experiments with varying hydrogen peroxide dosages and treatment temperatures were conducted to evaluate the effectiveness of the process on the solubilization of fertilizer constituents. It was found that up to 26% of total Kjeldahl nitrogen could be released as ammonia with 6% hydrogen peroxide dosage at 170°C. An increase of nitrate/nitrite concentration was observed with higher hydrogen peroxide dosage and higher microwave temperature; the highest concentration of 10.2 mg L^{? 1} nitrates/nitrites was achieved at at 170°C and 6% H₂O₂ dosage. Up to 20 ± 9.5% of total chemical oxygen demand was reduced at temperatures between 120 and 170°C. Large quantities of volatile fatty acids were generated at lower temperatures, corresponding to an increase in soluble chemical oxygen demand, but not at higher temperatures. The treatment of fish silage using the microwave-enhanced advanced oxidation process appears to be promising.