Successful DNA-based prenatal exclusion of juvenile neuronal ceroid lipofuscinosis

A family with two siblings, 10 and 8 years old, both with clinical and ultrastructural evidence of juvenile neuronal ceroid lipofuscinosis is described. The family was found to be informative for the restriction fragment length polymorphisms (RFLPs) detected by the probes pCJ52–95Ml (locus D16S148) and pCJ52-94Tl (locus D16S159) flanking the juvenile neuronal ceroid lipofuscinosis locus, CLN3. The parents were both heterozygous using these probes, while their two children with juvenile neuronal ceroid lipofuscinosis were both homozygous. Chorionic villi analysis showed that the fetus was heterozygous and had inherited the one allele of the mother which was not found in the two siblings. This suggested that the fetus had derived one healthy allele from the mother, the risk for a double crossing-over being less than 1 per cent. Electron microscopy showed no fingerprint inclusions in chorionic villi. The child was investigated at 6 months of age and found to be healthy, as new fingerprint inclusions were found at electron microscopy and no vacuolated lymphocytes were found in the blood smear. Due to the risk of heterogeneity, both DNA-based analysis and electron microscopy on chorionic villi are recommended for prenatal examination for juvenile neuronal ceroid lipofuscinosis.     

Transforming meadows into free surface water wetlands: Impact of increased nitrate and carbon loading on greenhouse gas production

In a laboratory study we investigated 1) the potential production of nitrous oxide (N₂O), methane (CH₄) and carbon dioxide (CO₂) and 2) the effect of nitrate (NO₃^?) and anaerobic N₂O development on CH₄ production in sediment from a recently recreated free surface water wetland (FSWW) and in soil from an adjacent meadow. We designed an experiment where production of greenhouse gases was registered at the time of maximum net development of N₂O. We made additions of biodegradable carbon (glucose) and/or NO₃^? to sediment and soil slurries and incubated them at four temperatures (4, 13, 20, 28 °C). Gas production from both substrates was positively correlated with temperature. We also found that the sediment produced more N₂O than the soil. N₂O production in sediment was NO₃^? limited, whereas in soil carbon availability was lower and only combined additions of NO₃^? and glucose supported increased N₂O development. CH₄ production was generally low and did not differ between soil and sediment. Nor did glucose addition increase CH₄ rates. The results suggest that neither soil nor sediment environment did support development of methanogenic populations. There were no clear effects of NO₃^? on CH₄ production. However, the highest records of CH₄ were found in incubations with low N₂O production, which indicates that N₂O might be toxic to methanogens. In summary, our study showed that transforming meadows into FSWWs implies a risk of increased N₂O emissions. This does not seem to be valid for CH₄. However, since N₂O is almost always produced wherever NO₃^? is denitrified, increased N₂O production in wetlands leads to reduced rates in downstream environments. Hence, we conclude that when balancing NO₃^? retention and global warming aspects, we find no reason to discourage future creation or restoration of wetlands.     

Carbon footprint of food - approaches from national input-output statistics and a LCA of a food portion

The aim of the study, on which this paper is based, was to provide guidance to consumers to make environmentally responsible choices in their food consumption, to assist food supply chain stakeholders to identify the key areas for environmental improvements, and to provide policy makers with a tool for monitoring the potential impacts on climate change resulting from developments within the food sector. At the macro level, the EIO-LCA model was developed specifically for the Finnish food chain; at the micro level, LCAs were performed on 30 lunch portions. The contribution of the Finnish food chain to climate change was 14%, which comprised 40% CO₂ emissions, 25% CH₄ emissions, and 34% N₂O emissions. The share of impacts from domestic agricultural processes was the highest, at 69%. The impact of a single lunch portion ranged between 0.65 and 3.80 kg of equivalent CO₂. According to the EIO-LCA model, the average impact was 7.7 kg CO₂ eq/person daily. The consumer phase accounted for between 8 and 47% of the climate change impacts for homemade portions. In ready-to-eat portions industry and retail phases were emphasized, representing 25-38% of climate change impacts. We present an approach to steer the Finnish food sector onto an environmentally sustainable path; practical tools for consumers and farmers will especially need to be developed further.     

Is there still a role for nuchal translucency measurement in the changing paradigm of first trimester screening?

Objectives

To give an overview of the genetic and structural abnormalities occurring in fetuses with nuchal translucency (NT) measurement exceeding the 95th percentile at first-trimester screening and to investigate which of these abnormalities would be missed if cell-free fetal DNA (cfDNA) were used as a first-tier screening test for chromosomal abnormalities.

Methods

This is a national study including 1901 pregnancies with NT≥95th percentile referred to seven university hospitals in the Netherlands between 1 January 2010 and 1 January 2016. All cases with unknown pregnancy outcome were excluded. Results of detailed ultrasound examinations, karyotyping, genotyping, pregnancy and neonatal outcomes, investigation by a clinical geneticist and post-mortem investigations were collected.

Results

In total, 821 (43%) pregnancies had at least one abnormality. The rate of abnormalities was 21% for fetuses with NT between 95^th and 99^th percentile and 62% for fetuses with NT≥99^th percentile. Prevalence of single-gene disorders, submicroscopic, chromosomal and structural abnormalities was 2%, 2%, 30% and 9%, respectively.

Conclusion

Although cfDNA is superior to the combined test, especially for the detection of trisomy 21, 34% of the congenital abnormalities occurring in fetuses with increased NT may remain undetected in the first trimester of pregnancy, unless cfDNA is used in combination with fetal sonographic assessment, including NT measurement.     

Winter arsenic pollution in 10 forest ecosystems in the mountainous border regions of the Czech Republic

Environmental Science and Pollution Research - Arsenic (As) concentrations and deposition fluxes were measured in snow and rime at 10 mountain-top sites near the borders between the Czech Republic...     

Estimation of Similarity in the Qualitative Composition of Humic Substance in Marine Sediments By Means of an Uv-Spectroscopic Library

In this paper a method for the study of the qualitative similarity of extractable humic substance (EHS) in marine sediments based on the realisation of UV spectral library of EHS is described. the spectral library was built including the digitised spectra of humic substance extracted from several marine sediments (46 samples) and two samples of standard materials (lignin sulphonate and humic substance) in a Statistica data file. the data matrix was elaborated by means of different multivariate statistic techniques such as Cluster Analysis (CA), Principal Components Analysis (PCA) and the univariate technique Spectral Correlation Analysis (SCA). This approach allows us to show the contribution of different organic compounds (aromatic, lipid and acid) to the composition of EHS and moreover it evidences also the structural characteristics of EHS in terms of similarities in the qualitative composition of samples such as presence of terrestrial and/or vegetal contributions. the UV library is an objective tool to study the qualitative composition of EHS and it represents a complementary approach to the most common methods based on the application of spectroscopic (IR, ¹³CNMR), potentiometric and chromatographic techniques.     

The effect of macrophytes on retention times in a constructed wetland for wastewater treatment

Retention times of treated water in a constructed wetland (CW) with horizontal subsurface flow were determined both in the vegetative and non-vegetative periods of 2005. Tracer experiments were performed using fluorescein, an organic compound detectable at extremely low concentrations. Nominal and tracer retention times were determined and compared. Winter tracer retention time (TRT 194 h) and nominal retention time (nHRT 190 h) were nearly exactly equal, while summer TRT (335 h) was approximately twofold higher than nHRT (158 h). Residence time distribution function (RTD) was used to compare retention times obtained for the vegetative and non-vegetative periods. The obtained results document a significant influence of dense common reed vegetation on retention characteristics of the studied system. Common reed can convert a significant volume of water from liquid to gas via evapotranspiration (ET) and thus prolong water retention times in the system. This is very important both technically and ecologically. Longer retention times mean a longer time for microbiological decay of wastewater. Water converted from liquid to gas causes cooling of the microclimate, which is very important, especially in intensively cultivated areas with a lack of water.     

European Court of Justice ruling regarding new genetic engineering methods scientifically justified: a commentary on the biased reporting about the recent ruling

In July 2018, the European Court of Justice (Case C-528/16) ruled that organisms obtained by directed mutagenesis techniques are to be regarded as genetically modified organisms (GMOs) within the meaning of Directive 2001/18. The ruling marked the next round of the dispute around agricultural genetic engineering in Europe. Many of the pros and cons presented in this dispute are familiar from the debate around the first generation of genetic engineering techniques. The current wave of enthusiasm for the new genetic engineering methods, with its claim to make good on the failed promises of the previous wave, seems to point more to an admission of failure of the last generation of genetic engineering than to a true change of paradigm. Regulation is being portrayed as a ban on research and use, which is factually incorrect, and the judges of the European Court of Justice are being defamed as espousing “pseudoscience”. Furthermore, this highly polarised position dominates the media reporting of the new techniques and the court’s ruling. Advocates of the new genetic engineering techniques appear to believe that their benefits are so clear that furnishing reliable scientific evidence is unnecessary. Meanwhile, critics who believe that the institution of science is in a serious crisis are on the increase not just due to the cases of obvious documented scientific misconduct by companies and scientists, but also due to the approach of dividing the world into those categorically for or against genetic engineering. In this construct of irreconcilable opposites, differentiations fall by the wayside. This article is a response to this one-sided and biased reporting, which often has the appearance of spin and lacks journalistic ethics that require journalists to report on different positions in a balanced and factual manner instead of taking positions and becoming undeclared advocates themselves.     

High-Velocity Stretching of Renewable Polymer Blends

Journal of Polymers and the Environment - We evaluated the influence of blending various renewable polymer grades and amounts to allow for high stretchability during stretching at 800 mm/s...