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- de Wit, Cynthia A., et al.
(author)
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Organohalogen compounds of emerging concern in Baltic Sea biota : Levels, biomagnification potential and comparisons with legacy contaminants
- 2020
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In: Environment International. - : Elsevier BV. - 0160-4120 .- 1873-6750. ; 144
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Journal article (peer-reviewed)abstract
- While new chemicals have replaced major toxic legacy contaminants such as polychlorinated biphenyls (PCBs) and dichlorodiphenyltrichloroethane (DDT), knowledge of their current levels and biomagnification potential in Baltic Sea biota is lacking. Therefore, a suite of chemicals of emerging concern, including organophosphate esters (OPEs), short-chain, medium-chain and long-chain chlorinated paraffins (SCCPs, MCCPs, LCCPs), halogenated flame retardants (HFRs), and per- and polyfluoroalkyl substances (PFAS), were analysed in blue mussel (Mytilus edulis), viviparous eelpout (Zoarces viviparus), Atlantic herring (Clupea harengus), grey seal (Halichoerus grypus), harbor seal (Phoca vitulina), harbor porpoise (Phocoena phocoena), common eider (Somateria mollissima), common guillemot (Uria aalge) and white-tailed eagle (Haliaeetus albicilla) from the Baltic Proper, sampled between 2006 and 2016. Results were benchmarked with existing data for legacy contaminants. The mean concentrations for Sigma OPEs ranged from 57 to 550 ng g(-1) lipid weight (lw), for Sigma CPs from 110 to 640 ng g(-1) lw for Sigma HFRs from 0.42 to 80 ng g(-1) lw, and for Sigma PFAS from 1.1 to 450 ng g(-1) wet weight. Perfluoro-4-ethyl-cyclohexanesulfonate (PFECHS) was detected in most species. Levels of OPEs, CPs and HFRs were generally similar or higher than those of polybrominated diphenyl ethers (PBDEs) and/or hexabromocyclododecane (HBCDD). OPE, CP and HFR concentrations were also similar to PCBs and DDTs in blue mussel, viviparous eelpout and Atlantic herring. In marine mammals and birds, PCB and DDT concentrations remained orders of magnitude higher than those of OPEs, CPs, HFRs and PFAS. Predator-prey ratios for individual OPEs (0.28-3.9) and CPs (0.40-5.0) were similar or somewhat lower than those seen for BDE-47 (5.0-29) and HBCDD (2.4-13). Ratios for individual HFRs (0.010-37) and PFAS (0.15-47) were, however, of the same order of magnitude as seen for p,p'-DDE (4.7-66) and CB-153 (31-190), indicating biomagnification potential for many of the emerging contaminants. Lack of toxicity data, including for complex mixtures, makes it difficult to assess the risks emerging contaminants pose. Their occurence and biomagnification potential should trigger risk management measures, particularly for MCCPs, HFRs and PFAS.
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| 4. |
- Dreyer, Bo, et al.
(author)
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Spectrum of USH2A mutations in Scandinavian patients with Usher Syndrome type II
- 2008
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In: Human Mutation. - : Wiley-Liss. - 1059-7794 .- 1098-1004. ; 29:3, s. 451-451
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Journal article (peer-reviewed)abstract
- Usher syndrome type II (USH2) is an autosomal recessive disorder, characterised by moderate to severe high-frequency hearing impairment, normal balance function and progressive visual impairment due to retinitis pigmentosa. Usher syndrome type IIa, the most common subtype, is defined by mutations in the USH2A gene encoding a short and a recently discovered long usherin isoform comprising 21 and 73 exons, respectively. More than 120 different disease-causing mutations have been reported, however, most of the previous reports concern mutations restricted to exons 1-21 of the USH2A gene. To explore the spectrum of USH2A disease-causing mutations among Scandinavian USH2 cases, patients from 118 unrelated families of which 27 previously had been found to carry mutations in exons 1-21 were subjected to extensive DNA sequence analysis of the full size USH2A gene. Altogether, 122 USH2A DNA sequence alterations were identified of which 57 were predicted to be disease-causing, 7 were considered to be of uncertain pathogenicity and 58 were predicted to be benign variants. Of 36 novel pathogenic USH2A mutations 31 were located in exons 22-73, specific to the long isoform. USH2A mutations were identified in 89/118 (75.4%) families. In 79/89 (88.8%) of these families two pathogenic mutations were identified whereas in 10/89 (11.2%) families the second mutation remained unidentified. In 5/118 (4.2%) families the USH phenotype could be explained by mutations in the USH3A gene. The results presented here provide a comprehensive picture of the genetic aetiology of Usher syndrome type IIA in Scandinavia as it is known to date.
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