Integrated Treatment of Per- and Polyfluoroalkyl Substances in Existing Wastewater Treatment Plants ─ Scoping the Potential of Foam Partitioning

Foam fractionation is becoming increasingly popular as a treatment technology for water contaminated with per- and polyfluoroalkyl substances (PFAS). At many existing wastewater treatment facilities, particularly in aerated treatment steps, foam formation is frequently observed. This study aimed to investigate if foam fractionation for the removal of PFAS could be integrated with such existing treatment processes. Influent, effluent, water under the foam, and foam were sampled from ten different wastewater treatment facilities where foam formation was observed. These samples were analyzed for the concentration of 29 PFAS, also after the total oxidizable precursor (TOP) assay. Enrichment factors were defined as the PFAS concentration in the foam divided by the PFAS concentration in the influent. Although foam partitioning did not lead to decreased ∑PFAS concentrations from influent to effluent in any of the plants, certain long-chain PFAS were removed with efficiencies up to 76%. Moreover, ∑PFAS enrichment factors in the foam ranged up to 105, and enrichment factors of individual PFAS ranged even up to 106. Moving bed biofilm reactors (MBBRs) were more effective at enriching PFAS in the foam than activated sludge processes. Altogether, these high enrichment factors demonstrate that foam partitioning in existing wastewater treatment plants is a promising option for integrated removal. Promoting foam formation and removing foam from the water surface with skimming devices may improve the removal efficiencies further. These findings have important implications for PFAS removal and sampling strategies at wastewater treatment plants

Twist exome capture allows for lower average sequence coverage in clinical exome sequencing

Background Exome and genome sequencing are the predominant techniques in the diagnosis and research of genetic disorders. Sufficient, uniform and reproducible/consistent sequence coverage is a main determinant for the sensitivity to detect single-nucleotide (SNVs) and copy number variants (CNVs). Here we compared the ability to obtain comprehensive exome coverage for recent exome capture kits and genome sequencing techniques. Results We compared three different widely used enrichment kits (Agilent SureSelect Human All Exon V5, Agilent SureSelect Human All Exon V7 and Twist Bioscience) as well as short-read and long-read WGS. We show that the Twist exome capture significantly improves complete coverage and coverage uniformity across coding regions compared to other exome capture kits. Twist performance is comparable to that of both short- and long-read whole genome sequencing. Additionally, we show that even at a reduced average coverage of 70× there is only minimal loss in sensitivity for SNV and CNV detection. Conclusion We conclude that exome sequencing with Twist represents a significant improvement and could be performed at lower sequence coverage compared to other exome capture techniques

A Solve-RD ClinVar-based reanalysis of 1522 index cases from ERN-ITHACA reveals common pitfalls and misinterpretations in exome sequencing

Purpose Within the Solve-RD project (https://solve-rd.eu/), the European Reference Network for Intellectual disability, TeleHealth, Autism and Congenital Anomalies aimed to investigate whether a reanalysis of exomes from unsolved cases based on ClinVar annotations could establish additional diagnoses. We present the results of the “ClinVar low-hanging fruit” reanalysis, reasons for the failure of previous analyses, and lessons learned. Methods Data from the first 3576 exomes (1522 probands and 2054 relatives) collected from European Reference Network for Intellectual disability, TeleHealth, Autism and Congenital Anomalies was reanalyzed by the Solve-RD consortium by evaluating for the presence of single-nucleotide variant, and small insertions and deletions already reported as (likely) pathogenic in ClinVar. Variants were filtered according to frequency, genotype, and mode of inheritance and reinterpreted. Results We identified causal variants in 59 cases (3.9%), 50 of them also raised by other approaches and 9 leading to new diagnoses, highlighting interpretation challenges: variants in genes not known to be involved in human disease at the time of the first analysis, misleading genotypes, or variants undetected by local pipelines (variants in off-target regions, low quality filters, low allelic balance, or high frequency). Conclusion The “ClinVar low-hanging fruit” analysis represents an effective, fast, and easy approach to recover causal variants from exome sequencing data, herewith contributing to the reduction of the diagnostic deadlock

Russia's fundamental conservatism: in search of modernity

A UK-based political scientist presents a systematic analysis of the basic philosophical arguments and intellectual origins of fundamental conservative thought in Russia. Positing that fundamental conservatism seeks to displace interpretations of Western modernity in Russia with a culturally specific Russian version, she then probes more deeply into the methods and tasks of fundamental conservatism, before examining its main theoretical arguments. The fact that such thinking is increasingly prominent in Russia, including within political circles, is noted as a basis for the need to better understand it as a search for new forms of rationality and new forms of citizenship rooted in the Russian sociohistoric context. © 2013 Taylor and Francis Group, LLC. The paper examines the main dimensions of fundamental conservative thought in modern Russia