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- Kwok, Karen Y., et al.
(author)
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Flux of Perfluorinated Chemicals through Wet Deposition in Japan, the United States, And Several Other Countries
- 2010
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In: Environmental Science and Technology. - : American Chemical Society (ACS). - 0013-936X .- 1520-5851. ; 44:18, s. 7043-7049
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Journal article (peer-reviewed)abstract
- The widespread distribution of perfluorinated chemicals (PFCs) in different environmental matrices has prompted concern about the sources, fate, and transport of these classes of chemicals. PFCs are present in the atmosphere, but only a few studies have investigated their occurrence in precipitation. In this study, concentrations of 20 PFCs, including C3-C5 short-chain PFCs, were quantified using HPLC-MS/MS in precipitation samples from Japan (n = 31), the United States (n = 12), China (n = 5), India (n = 2), and France (n = 2). Among the PFCs measured, perfluoropropanoic acid (PFPrA) was detected in all of the precipitation samples. Average total PFC concentrations ranged from 1.40 to 18.1 ng/L for the seven cities studied. The greatest total PFC concentrations were detected in Tsukuba, Japan, whereas the lowest concentrations were detected in Patna, India. PFPrA, perfluorooctanoic acid (PFOA), and perfluorononanoic acid (PFNA) were found to be the dominant PFCs in Japanese and U.S. precipitation samples. No observable seasonal trend was found in precipitation samples from two locations in Japan. Annual fluxes of PFCs were estimated for Japan and the U.S. and the evidence for precipitation as an effective scavenger of PFCs in the atmosphere is reported.
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- Taniyasu, Sachi, et al.
(author)
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Analysis of trifluoroacetic acid and other short-chain perfluorinated acids (C2-C4) in precipitation by liquid chromatography-tandem mass spectrometry : Comparison to patterns of long-chain perfluorinated acids (C5-C18)
- 2008
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In: Analytica Chimica Acta. - : Elsevier. - 0003-2670 .- 1873-4324. ; 619:2, s. 221-230
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Journal article (peer-reviewed)abstract
- A method has been developed to measure 29 perfluorinated acids (PFAs) including short-chain perfluorocarboxylates (PFCAs) such as trifluoroacetic acid (TFA; C2) and long-chain PFCAs, perfluoroalkylsulfonates, fluorotelomer acids, and two perfluorooctylsulfonamides in water matrices. The method involves solid phase extraction (SPE) using a weak anion-exchange (WAX) cartridge, an ion-exchange high-performance liquid chromatography (HPLC) column separation, and tandem mass spectrometry (MS/MS) detection. To our knowledge, this is the first HPLC-MS/MS method to determine TFA in water at sub-ng L-1 concentrations. The method is selective, simple, and robust, capable of measuring 29 PFAs in a single analysis, with overall recoveries of the target analytes ranging from 75% to 132%. The method was applied to the analysis of rainwater samples collected from two cities in Japan. TFA and several short-chain PFAs were the major compounds found in rainwater.
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- Taniyasu, Sachi, et al.
(author)
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Inter-laboratory trials for analysis of perfluorooctanesulfonate and perfluorooctanoate in water samples : Performance and recommendations
- 2013
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In: Analytica Chimica Acta. - : Elsevier. - 0003-2670 .- 1873-4324. ; 770, s. 111-120
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Journal article (peer-reviewed)abstract
- The ISO 25101 (International Organization for Standardization, Geneva) describes a new international standard method for the determination of perfluorooctanesulfonate (PFOS) and perfluorooctanoate (PFOA) in unfiltered samples of drinking and surface waters. The method is based on the extraction of target analytes by solid phase extraction, solvent elution, and determination by high performance liquid chromatography-tandem mass spectrometry (HPLC-MS/MS). For the determination of the performance of this method, more than 20 laboratories from 9 different countries participated in an inter-laboratory trial in 2006. In addition, inter-laboratory trials were conducted in 2008 and 2009 for the analysis of perfluoroalkylsubstances (PFASs), including PFOS and PFOA, in water samples by following the protocols of Japanese Industrial Standard (JIS). Overall, the repeatability coefficients of variation (i.e., within-laboratory precision) for PFOS and PFOA in all water samples were between 3 and 11%, showing a adequate precision of the ISO and JIS methods. The reproducibility coefficients of variation (i.e., between-laboratory precision) were found to vary within a range of 7-31% for surface water and 20-40% for wastewater. The recoveries of PFOS and PFOA, as a measure of accuracy, varied from 84 to 100% for surface water and from 84 to 100% for wastewater among the samples with acceptable criteria for internal standards recovery. The determined concentrations of PFASs in samples compared well with the " true" values. The results of the inter-laboratory trial confirmed that the analytical methods are robust and reliable and can be used as a standard method for the analysis of target compounds in water samples.
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- Hibar, Derrek P., et al.
(author)
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Novel genetic loci associated with hippocampal volume
- 2017
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In: Nature Communications. - : Springer Science and Business Media LLC. - 2041-1723. ; 8
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Journal article (peer-reviewed)abstract
- The hippocampal formation is a brain structure integrally involved in episodic memory, spatial navigation, cognition and stress responsiveness. Structural abnormalities in hippocampal volume and shape are found in several common neuropsychiatric disorders. To identify the genetic underpinnings of hippocampal structure here we perform a genome-wide association study (GWAS) of 33,536 individuals and discover six independent loci significantly associated with hippocampal volume, four of them novel. Of the novel loci, three lie within genes (ASTN2, DPP4 and MAST4) and one is found 200 kb upstream of SHH. A hippocampal subfield analysis shows that a locus within the MSRB3 gene shows evidence of a localized effect along the dentate gyrus, subiculum, CA1 and fissure. Further, we show that genetic variants associated with decreased hippocampal volume are also associated with increased risk for Alzheimer's disease (r(g) = -0.155). Our findings suggest novel biological pathways through which human genetic variation influences hippocampal volume and risk for neuropsychiatric illness.
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- Sonderby, Ida E., et al.
(author)
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Dose response of the 16p11.2 distal copy number variant on intracranial volume and basal ganglia
- 2020
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In: Molecular Psychiatry. - : Nature Publishing Group. - 1359-4184 .- 1476-5578. ; 25:3, s. 584-602
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Journal article (peer-reviewed)abstract
- Carriers of large recurrent copy number variants (CNVs) have a higher risk of developing neurodevelopmental disorders. The 16p11.2 distal CNV predisposes carriers to e.g., autism spectrum disorder and schizophrenia. We compared subcortical brain volumes of 12 16p11.2 distal deletion and 12 duplication carriers to 6882 non-carriers from the large-scale brain Magnetic Resonance Imaging collaboration, ENIGMA-CNV. After stringent CNV calling procedures, and standardized FreeSurfer image analysis, we found negative dose-response associations with copy number on intracranial volume and on regional caudate, pallidum and putamen volumes (β = −0.71 to −1.37; P < 0.0005). In an independent sample, consistent results were obtained, with significant effects in the pallidum (β = −0.95, P = 0.0042). The two data sets combined showed significant negative dose-response for the accumbens, caudate, pallidum, putamen and ICV (P = 0.0032, 8.9 × 10−6, 1.7 × 10−9, 3.5 × 10−12 and 1.0 × 10−4, respectively). Full scale IQ was lower in both deletion and duplication carriers compared to non-carriers. This is the first brain MRI study of the impact of the 16p11.2 distal CNV, and we demonstrate a specific effect on subcortical brain structures, suggesting a neuropathological pattern underlying the neurodevelopmental syndromes.
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- van der Meer, Dennis, et al.
(author)
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Association of Copy Number Variation of the 15q11.2 BP1-BP2 Region With Cortical and Subcortical Morphology and Cognition
- 2020
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In: JAMA psychiatry. - : American Medical Association (AMA). - 2168-6238 .- 2168-622X. ; 77:4, s. 420-430
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Journal article (peer-reviewed)abstract
- Importance: Recurrent microdeletions and duplications in the genomic region 15q11.2 between breakpoints 1 (BP1) and 2 (BP2) are associated with neurodevelopmental disorders. These structural variants are present in 0.5% to 1.0% of the population, making 15q11.2 BP1-BP2 the site of the most prevalent known pathogenic copy number variation (CNV). It is unknown to what extent this CNV influences brain structure and affects cognitive abilities.Objective: To determine the association of the 15q11.2 BP1-BP2 deletion and duplication CNVs with cortical and subcortical brain morphology and cognitive task performance.Design, Setting, and Participants: In this genetic association study, T1-weighted brain magnetic resonance imaging were combined with genetic data from the ENIGMA-CNV consortium and the UK Biobank, with a replication cohort from Iceland. In total, 203 deletion carriers, 45 247 noncarriers, and 306 duplication carriers were included. Data were collected from August 2015 to April 2019, and data were analyzed from September 2018 to September 2019.Main Outcomes and Measures: The associations of the CNV with global and regional measures of surface area and cortical thickness as well as subcortical volumes were investigated, correcting for age, age2, sex, scanner, and intracranial volume. Additionally, measures of cognitive ability were analyzed in the full UK Biobank cohort.Results: Of 45 756 included individuals, the mean (SD) age was 55.8 (18.3) years, and 23 754 (51.9%) were female. Compared with noncarriers, deletion carriers had a lower surface area (Cohen d = -0.41; SE, 0.08; P = 4.9 × 10-8), thicker cortex (Cohen d = 0.36; SE, 0.07; P = 1.3 × 10-7), and a smaller nucleus accumbens (Cohen d = -0.27; SE, 0.07; P = 7.3 × 10-5). There was also a significant negative dose response on cortical thickness (β = -0.24; SE, 0.05; P = 6.8 × 10-7). Regional cortical analyses showed a localization of the effects to the frontal, cingulate, and parietal lobes. Further, cognitive ability was lower for deletion carriers compared with noncarriers on 5 of 7 tasks.Conclusions and Relevance: These findings, from the largest CNV neuroimaging study to date, provide evidence that 15q11.2 BP1-BP2 structural variation is associated with brain morphology and cognition, with deletion carriers being particularly affected. The pattern of results fits with known molecular functions of genes in the 15q11.2 BP1-BP2 region and suggests involvement of these genes in neuronal plasticity. These neurobiological effects likely contribute to the association of this CNV with neurodevelopmental disorders.
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