Comprehensive prenatal diagnostics: Exome versus genome sequencing

Objective

This study aimed to assess the diagnostic yield of prenatal genetic testing using trio whole exome sequencing (WES) and trio whole genome sequencing (WGS) in pregnancies with fetal anomalies by comparing the results with conventional chromosomal microarray (CMA) analysis.

Methods

A total of 40 pregnancies with fetal anomalies or increased nuchal translucency (NT ≥ 5 mm) were included between the 12th and 21st week of gestation. Trio WES/WGS and CMA were performed in all cases.

Results

The trio WES/WGS analysis increased the diagnostic yield by 25% in cases with negative CMA results. Furthermore, all six chromosomal aberrations identified by CMA were independently detected by WES/WGS analysis. In total, 16 out of 40 cases obtained a genetic sequence variant, copy number variant, or aneuploidy explaining the phenotype, resulting in an overall WES/WGS diagnostic yield of 40%. WES analysis provided a more reliable identification of mosaic sequence variants than WGS because of its higher sequencing depth.

Conclusions

Prenatal WES/WGS proved to be powerful diagnostic tools for fetal anomalies, surpassing the diagnostic yield of CMA. They have the potential to serve as standalone methods for prenatal diagnosis. The study highlighted the limitations of WGS in accurately detecting mosaic variants, which is particularly relevant when analyzing chorionic villus samples.     

Participatory Forest Management in Ethiopia: Learning from Pilot Projects

Different arrangements of decentralized forest management have been promoted as alternatives to centralized and top down approaches to halt tropical deforestation and forest degradation. Ethiopia is one of the countries piloting one of these approaches. To inform future programs and projects it is essential to learn from existing pilots and experiences. This paper analyses five of the pilot participatory forest management (PFM) programs undertaken in Ethiopia. The study is based on the Forest User Group (FUG) members’ analyses of the programs using selected outcome variables: forest income, change in forest conditions, forest ownership feelings and effectiveness of FUGs as forest managing institutions. These variables were assessed at three points in time—before the introduction of PFM, during the project implementation and after the projects ended. Data were collected using group discussions, key informant interviews and transect walks through the PFM forests. The results show that in all of the five cases the state of the forest is perceived to have improved with the introduction of PFM, and in four of the cases the improvement was maintained after projects ended. Regulated access to the forests following introduction of PFM was not perceived to have affected forest income negatively. There are, however, serious concerns about the institutional effectiveness of the FUGs after projects ended, and this may affect the success of the PFM approach in the longer term.     

Risk as a challenge in practice: investigating climate change in water management

Climate change is one of the risks that society faces today. Among other things, it has the potential to interfere with the water environment, and thus it can be a relevant factor in current work with river basin management plans (RBMPs) in Denmark. At the same time, climate change in theory has characteristics that can pose challenges, if included in such a planning process. In this article, it is investigated what the attitudes towards climate change are among actors in the planning process, and what the main drivers, barriers and challenges related to including climate change in the RBMPs are, compared to the theoretical challenges. The investigation consists of a document study of hearing responses, interviews, and a survey among Danish municipalities. The overall results are that there are many attitudes towards the inclusion of climate change as a factor in RBMPs and that this diversity theoretically can be a challenge in the planning process. The main theoretical and practical barriers and challenges in connection with inclusion of climate change in RBMPs relate to lacking knowledge and uncertainty.     

Food availability at birth limited reproductive success in historical humans

Environmental conditions in early life can profoundly affect individual development and have consequences for reproductive success. Limited food availability may be one of the reasons for this, but direct evidence linking variation in early-life nutrition to reproductive performance in adulthood in natural populations is sparse. We combined historical agricultural data with detailed demographic church records to investigate the effect of food availability around the time of birth on the reproductive success of 927 men and women born in 18th-century Finland. Our study population exhibits natural mortality and fertility rates typical of many preindustrial societies, and individuals experienced differing access to resources due to social stratification. We found that among both men and women born into landless families (i.e., with low access to resources), marital prospects, probability of reproduction, and offspring viability were all positively related to local crop yield during the birth year. Such effects were generally absent among those born into landowning families. Among landless individuals born when yields of the two main crops, rye and barley, were both below median, only 50% of adult males and 55% of adult females gained any reproductive success in their lifetime, whereas 97% and 95% of those born when both yields were above the median did so. Our results suggest that maternal investment in offspring in prenatal or early postnatal life may have profound implications for the evolutionary fitness of human offspring, particularly among those for which resources are more limiting. Our study adds support to the idea that early nutrition can limit reproductive success in natural animal populations, and provides the most direct evidence to date that this process applies to humans.     

Air-to-vegetation transfer rates of natural submicron aerosols

Submicron aerosol deposition to outdoor vegetation was evaluated by measuring vegetation and air concentrations of ²¹²Pb, ²¹⁴Pb, and ⁷Be attached to atmospheric aerosols. A biomass-normalized deposition velocity (V_D), with units of m³ kg^?1 s^?1, was used to compare species and isotopes with respect to air-to-vegetation transfer rates. For ²¹²Pb ($\text{t}{}_{\mathrm{<mtext>1</mtext><mtext>2</mtext>}}\text{= 10·64 h}$), higher night-time air concebtrations dominate deposition, while for ²¹⁴Pb ($\text{t}{}_{\mathrm{<mtext>1</mtext><mtext>2</mtext>}}\text{= 26·8}\text{min}$), deposition measurements over shorter time periods relative to changing atmospheric conditions were possible. Calculated V_D values were usually higher for ²¹⁴Pb, possibly reflecting wind-enhanced deposition during the afternoon period of sampling. Evergreen species, including pines, were not appreciably different from deciduous species. Most striking was the narrow range of results (factor of 6 for 34 ²¹²Pb measurements of 20 species). Beryllium-7 ($\text{t}{}_{\mathrm{<mtext>1</mtext><mtext>2</mtext>}}\text{= 53·3 d}$) was used to evaluate time-integrated deposition by sampling vegetation in California near the end of dry summers. Similar deposition rates were found for this isotope. The results of the study indicated that naturally radioactive atmospheric aerosols can be used to understand the dynamics of submicron aerosol deposition to ecosystems.     

The effect of an ergonomic intervention on musculoskeletal, psychosocial and visual strain of VDT entry work: organization and methodology of the international study.

This special issue of the International Journal of Occupational Safety and Ergonomics (JOSE) reports the results from an extensive multinational and multidisciplinary collaborative investigation of the impacts on visual display terminal (VDT) work of musculoskeletal, visual, ergonomic, and psychosocial factors. For brevity, this effort has been referred to as the MEPS project (musculoskeletal--eyestrain--psychosocial--stress). This paper lays out the basic methodological structure of the study. The study was conducted in 4 countries utilizing VDT data entry workers as the primary subject population. A battery of objective and subject assessment measures, including muscle load, visual function, physical and visual strain, postural, ergonomic and psychosocial factors, were assessed at 3 different points in time. A pre-test was given prior to an ergonomic intervention. Two post-tests were given 1 month and 1 year after the ergonomic intervention.     

The effect of an ergonomic intervention on musculoskeletal, psychosocial and visual strain of VDT data entry work: the Norwegian part of the international study.

The Norwegian MEPS (musculoskeletal--visual--psychosocial--stress) study included 3 groups: data entry, data dialogue (female) and data dialogue (male). Before intervention, the data entry group reported significantly more symptoms and signs of musculoskeletal illness and had longer periods in front of the video display terminal (VDT) without a break. The ergonomic intervention consisted mainly of ergonomic information and training. After intervention, the data dialogue female group reported a significant reduction in shoulder pain in parallel with a reduction in trapezius load. Increasing the understanding in how to adjust the work stand and chair may have been contributing factors to reducing the pain level. There was a significant reduction in eye problems in all groups; the greatest reduction in eye symptoms was seen in the groups who had new optometric corrections.     

Sorption, mobility, and transformation of estrogenic hormones in natural soil

Potent estrogenic hormones are consistently detected in the environment at low concentration, yet these chemicals are strongly sorbed to soil and are labile. The objective of this research was to improve the understanding of the processes of sorption, mobility, and transformation for estrogens in natural soils, and their interaction. Equilibrium and kinetic batch sorption experiments, and a long-term column study were used to study the fate and transport of 17beta-estradiol and its primary metabolite, estrone, in natural soil. Kinetic and equilibrium batch experiments were done using radiolabeled 17beta-estradiol and estrone. At the concentrations used, it appeared that equilibrium sorption for both estrogens was achieved between 5 and 24 h, and that the equilibrium sorption isotherms were linear. The log K(oc) values for 17beta-estradiol (2.94) and estrone (2.99) were consistent with previously reported values. Additionally, it was found that there was rate-limited sorption for both 17beta-estradiol (0.178 h(-1)) and estrone (0.210 h(-1)). An approximately 42 h long, steady-flow, saturated column experiment was used to study the transport of radiolabeled 17beta-estradiol, which was applied in a 5.00 mg L(-1) solution pulse for 44 pore volumes. 17beta-estradiol and estrone were the predominant compounds detected in the effluent. The effluent breakthrough curves were asymmetric and the transport modeling indicated that sorption was rate-limited. Sorption rates and distributions of the estrogens were in agreement between column and batch experiments. This research can provide a better link between the laboratory results and observations in the natural environment.     

Mineralization of soil-aged isoproturon and isoproturon metabolites by Sphingomonas sp. strain SRS2

The aim of the study was to determine the effect of aging of the herbicide isoproturon and its metabolites monodesmethyl-isoproturon and 4-isopropyl-aniline in agricultural soil on their availability to the degrading bacterium Sphingomonas sp. strain SRS2. The 14C-ring-labeled isoproturon, monodesmethyl-isoproturon, and 4-isopropyl-aniline were added to sterilized soil and stored for 1, 49, 71, or 131 d before inoculation with strain SRS2. The availability of the compounds was estimated from the initial mineralization and the amount of 14CO2 recovered after 120 d of incubation. Aging in soil for 131 d reduced the initial mineralization of isoproturon and monodesmethyl-isoproturon and, in the case of isoproturon, also reduced the recovery of 14CO2. Initial mineralization and recovery of 14CO2 from aged 4-isopropyl-aniline were slightly reduced, but less 14CO2 was generally produced than with isoproturon or monodesmethyl-isoproturon. Thus, recovery of 14CO2 from 14C-isoproturon and 14C-monodesmethyl-isoproturon was 50.7 to 64.4% of the initially added 14C, while recovery from 14C-4-isopropyl-aniline was only 11.7 to 17.0%. Sorption measurements revealed similar Freundlich constants (K(f)) for isoproturon and monodesmethyl-isoproturon, whereas K(f) for 4-isopropyl-aniline was more than fivefold greater. The findings imply that in soil, partial degradation of isoproturon to 4-isopropyl-aniline may lead to reduced mineralization of the herbicide due to sorption of the aniline moiety.     

Commercial Medicinal Plant Extraction in the Hills of Nepal: Local Management System and Ecological Sustainability

This paper presents a case study from Jumla District, Nepal, investigating local management systems and ecological sustainability of commercial collection of a medicinal plant, spikenard (Nardostachys grandiflora DC, Valerianaceae), growing in alpine meadows. Interviews were undertaken with local collectors, traders, and district forest office staff, and the dynamics of people–plant interactions are analyzed using the Oakerson model. In all, 110 sample plots 1m square were laid out in three areas with differing collection and grazing pressures for recording of floristic composition and abundance of spikenard root biomass. Comparisons show significantly more root biomass in uncollected than collected areas with local management and the interpretation of differences in abundance is discussed. The combination of qualitative and quantitative investigations can provide a framework for the study of people–plant interactions, and this study can serve as first step in a compilation of cases to create a more detailed picture of local management systems of Nepali nontimber forest products in general and commercially collected medicinal and aromatic plants in particular.