Polybrominated diphenyl ethers and traditional organochlorine pollutants in fulmars (Fulmarus glacialis) from the Faroe Islands

The observed high-level burdens of organohalogens among the residents of the Faroe Islands, needs to be explained. Long-finned pilot whale (Globicephala melas) blubber and meat are known sources of environmental exposure. The present study focus on the organohalogen contamination of the fulmar (Fulmarus glacialis). The compounds quantified in fulmar muscle, fat, and egg are PCBs, DDTs, hexachlorobenzene (HCB), and polybrominated diphenyl ethers (PBDEs). The dominating pollutants are the 4,4'-DDT metabolite 4,4'-DDE and the two PCB congeners, CB-153 and CB-180, which are present in geometric mean concentrations of 7100, 4700 and 2500 ng/g lipid weight (l.w.), respectively, in adult fulmar muscle. 4,4'-DDT and HCB concentrations are approximately 250 ng/gl.w., each. Concentrations in the eggs are about 50% of the fulmar muscle levels, due to differences in lipid amounts, 4% in muscle and 10% in the eggs, the exposure contribution on a fresh weight basis is almost the same. As a result, both the egg and the adult fulmar muscle may lead to a significant exposure risk, if consumed by humans. BDE-153, the most abundant PBDE congener in fulmar muscle, with a geometric mean concentration of 6.5 ng/gl.w., is much lower than the individual PCB congeners and 4,4'-DDE concentrations. In the adult fulmar muscle, the relative PBDE congener pattern is different from that previously observed in biota, with BDE-153 and BDE-154 as the dominating congeners, rather than BDE-47. In contrast, BDE-47 is the most abundant congener in juvenile muscle and subcutaneous fat. The summation operatorPBDE concentrations are almost the same in egg, muscle (adult and juvenile) and subcutaneous fat (juvenile). For the polybrominated biphenyl (BB-153) the concentrations are considerably higher in the adult bird and egg than in the juvenile bird; this is also seen for the PCB and 4,4'-DDE concentrations. PCB concentrations found in fulmar egg and muscle are in the same range as seen in the pilot whale, i.e. 590-5700 ng/gl.w. for CB-153. Hence humans are also exposed to PCBs at a reasonable degree via intake of fulmar and/or fulmar egg and not only via pilot whale blubber.     

Butyltin compounds in sediment and molluscs from the shipping strait between Denmark and Sweden

The distribution of tributyltin (TBT) contamination in the subtidal zone of the waters between Denmark and Sweden was investigated in relation to major international shipping lanes. Sediment and different benthic molluscs were sampled in transects along and perpendicularly to the shipping lanes in the Sound (?resund) and the Kattegat/Skagerrak region. The samples were analysed for TBT and its degradation products, dibutyltin (DBT) and monobutyltin (MBT), using GC-PFPD. In sediments, the TBT concentration ranged from <1 to 19 ng g(-1) dry weight (dw) with a strong correlation between the TBT concentration and the organic fraction in sediment (r(2)=0.90) in the samples collected in the Sound, where the highest concentrations were found. This relationship was not observed in the samples from the Kattegat because the TBT concentration in most sediment samples was below the limit of detection. In the molluscs, TBT and its degradation products were detected in all samples from the entire area with concentrations ranging from 8.1 ng g(-1) dw in Buccinum undatum to 1316 ng g(-1) dw in Nuculana pernula. The deposit-feeding bivalve N. pernula was found to have a particularly high accumulation potential for TBT. In addition, a strong correlation between TBT concentrations in sediment and N. pernula was found. Therefore this species seems to be an ideal organism for monitoring sediment contamination. The TBT concentration in N. pernula was found to decrease gradually along the shipping lanes from the Sound, through the Kattegat and into the Skagerrak.     

Effect of natural ageing on volume stability of MSW and wood waste incineration residues

This paper presents the results of a study on the effect of natural weathering on volume stability of bottom ash (BA) from municipal solid waste (MSW) and wood waste incineration. BA samples were taken at different steps of treatment (fresh, 4 weeks and 12 weeks aged) and then characterised for their chemical and mineralogical composition and for volume stability by means of the mineralogical test method (M HMVA-StB), which is part of the German quality control system for using aggregates in road construction (TL Gestein-StB 04). Changes of mineralogical composition with the proceeding of the weathering treatment were also monitored by leaching tests. At the end of the 12 weeks of treatment, almost all the considered samples resulted to be usable without restrictions in road construction with reference to the test parameter volume stability.     

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.