| 1. |
- Stolk, Lisette, et al.
(author)
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Meta-analyses identify 13 loci associated with age at menopause and highlight DNA repair and immune pathways
- 2012
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In: Nature Genetics. - : Springer Science and Business Media LLC. - 1061-4036 .- 1546-1718. ; 44:3, s. 260-268
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Journal article (peer-reviewed)abstract
- To newly identify loci for age at natural menopause, we carried out a meta-analysis of 22 genome-wide association studies (GWAS) in 38,968 women of European descent, with replication in up to 14,435 women. In addition to four known loci, we identified 13 loci newly associated with age at natural menopause (at P < 5 × 10(-8)). Candidate genes located at these newly associated loci include genes implicated in DNA repair (EXO1, HELQ, UIMC1, FAM175A, FANCI, TLK1, POLG and PRIM1) and immune function (IL11, NLRP11 and PRRC2A (also known as BAT2)). Gene-set enrichment pathway analyses using the full GWAS data set identified exoDNase, NF-κB signaling and mitochondrial dysfunction as biological processes related to timing of menopause.
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| 2. |
- Grigoriadis, K., et al.
(author)
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Improving the recycling rate of the construction industry
- 2019
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In: Sustainable Construction Materials and Technologies. - : International Committee of the SCMT conferences.
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Conference paper (peer-reviewed)abstract
- Construction and Demolition Waste (CDW) accounts for approximately 25-30% of all waste generated across Europe each year. However, Waste Framework Directive 2008/98/EC requires from all EU member states to achieve at least 70% re-use, recycling or other recovery of non-hazardous CDW by 2020. In response, the Horizon 2020 RE4 Project (REuse and REcycling of CDW materials and structures in energy efficient pREfabricated elements for building REfurbishment and construction) consortium was set up. Its main aims are to assess the quality of various CDW fractions (e.g. mineral aggregate, timber, plastics, silt & clay), improve the quality of mineral aggregates and develop different building elements/components which contain at least 65% of CDW. Innovative building concepts will also be developed in an effort to improve recycling rates of future buildings through the use of prefabrication and modular design. The developed products and technologies will be assessed in a number of test sites by building 2-storey demonstration houses.
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| 3. |
- Whittaker, M. J., et al.
(author)
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Novel construction and demolition waste (CDW) treatment and uses to maximize reuse and recycling
- 2021
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In: Advances in Building Energy Research. - : Taylor and Francis Ltd.. - 1751-2549 .- 1756-2201. ; 15:2, s. 253-269
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Journal article (peer-reviewed)abstract
- The EU Waste Framework Directive 2008/98/EC states that all member states should take all necessary measures in order to achieve at least 70% re-use, recycling or other recovery of non-hazardous Construction and Demolition Waste (CDW) by 2020. In response, the Horizon 2020 RE4 project consortium (REuse and REcycling of CDW materials and structures in energy efficient pREfabricated elements for building REfurbishment and construction) consisting of 12 research and industrial partners across Europe, plus a research partner from Taiwan, was set up. For its success, the approach of the Project was manifold, developing sorting technologies to first improve the quality of CDW-derived aggregate. Simultaneously, CDW streams were assessed for quality and novel applications developed for aggregate, timber and plastic waste in a variety of products including structural and non-structural elements. With all products considered, innovative building concepts have been designed in a bid to improve future reuse and recycling of the products by promoting prefabricated construction methods and modular design to ease future recycling and increase value of the construction industry. The developed technologies and products have been put to the test in different test sites in building a two-storey house containing at least 65% of CDW. © 2019, © 2019 The Author(s)..
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| 4. |
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| 5. |
- Belli, LS, et al.
(author)
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COVID-19 in liver transplant candidates: pretransplant and post-transplant outcomes - an ELITA/ELTR multicentre cohort study
- 2021
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In: Gut. - : BMJ. - 1468-3288 .- 0017-5749. ; 70:10, s. 1914-
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Journal article (peer-reviewed)abstract
- Explore the impact of COVID-19 on patients on the waiting list for liver transplantation (LT) and on their post-LT course.DesignData from consecutive adult LT candidates with COVID-19 were collected across Europe in a dedicated registry and were analysed.ResultsFrom 21 February to 20 November 2020, 136 adult cases with laboratory-confirmed SARS-CoV-2 infection from 33 centres in 11 European countries were collected, with 113 having COVID-19. Thirty-seven (37/113, 32.7%) patients died after a median of 18 (10–30) days, with respiratory failure being the major cause (33/37, 89.2%). The 60-day mortality risk did not significantly change between first (35.3%, 95% CI 23.9% to 50.0%) and second (26.0%, 95% CI 16.2% to 40.2%) waves. Multivariable Cox regression analysis showed Laboratory Model for End-stage Liver Disease (Lab-MELD) score of ≥15 (Model for End-stage Liver Disease (MELD) score 15–19, HR 5.46, 95% CI 1.81 to 16.50; MELD score≥20, HR 5.24, 95% CI 1.77 to 15.55) and dyspnoea on presentation (HR 3.89, 95% CI 2.02 to 7.51) being the two negative independent factors for mortality. Twenty-six patients underwent an LT after a median time of 78.5 (IQR 44–102) days, and 25 (96%) were alive after a median follow-up of 118 days (IQR 31–170).ConclusionsIncreased mortality in LT candidates with COVID-19 (32.7%), reaching 45% in those with decompensated cirrhosis (DC) and Lab-MELD score of ≥15, was observed, with no significant difference between first and second waves of the pandemic. Respiratory failure was the major cause of death. The dismal prognosis of patients with DC supports the adoption of strict preventative measures and the urgent testing of vaccination efficacy in this population. Prior SARS-CoV-2 symptomatic infection did not affect early post-transplant survival (96%).
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| 6. |
- Dias, P. Joana, et al.
(author)
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Establishment of a taxonomic and molecular reference collection to support the identification of species regulated by the Western Australian Prevention List for Introduced Marine Pests
- 2017
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In: Management of Biological Invasions. - : Regional Euro-Asian Biological Invasions Centre Oy (REABIC). - 1989-8649. ; 8:2, s. 215-225
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Journal article (peer-reviewed)abstract
- Introduced Marine Pests (IMP, = non-indigenous marine species) prevention, early detection and risk-based management strategies have become the priority for biosecurity operations worldwide, in recognition of the fact that, once established, the effective management of marine pests can rapidly become cost prohibitive or impractical. In Western Australia (WA), biosecurity management is guided by the Western Australian Prevention List for Introduced Marine Pests which is a policy tool that details species or genera as being of high risk to the region. This list forms the basis of management efforts to prevent introduction of these species, monitoring efforts to detect them at an early stage, and rapid response should they be detected. It is therefore essential that the species listed can be rapid and confidently identified and discriminated from native species by a range of government and industry stakeholders. Recognising that identification of these species requires very specialist expertise which may be in short supply and not readily accessible in a regulatory environment, and the fact that much publicly available data is not verifiable or suitable for regulatory enforcement, the WA government commissioned the current project to collate a reference collection of these marine pest specimens. In this work, we thus established collaboration with researchers worldwide in order to source representative specimens of the species listed. Our main objective was to build a reference collection of taxonomically vouchered specimens and subsequently to generate species-specific DNA barcodes suited to supporting their future identification. To date, we were able to obtain specimens of 75 species (representative of all but four of the pests listed) which have been identified by experts and placed with the WA Government Department of Fisheries and, where possible, in accessible museums and institutions in Australasia. The reference collection supports the fast and reliable taxonomic and molecular identification of marine pests in WA and constitutes a valuable resource for training of stakeholders with interest in IMP recognition in Australia. The reference collection is also useful in supporting the development of a variety of DNA-based detection strategies such as real-time PCR and metabarcoding of complex environmental samples (e.g. biofouling communities). The Prevention List is under regular review to ensure its continued relevance and that it remains evidence and risk-based. Similarly, its associated reference collection also remains to some extent a work in progress. In recognition of this fact, this report seeks to provide details of this continually evolving information repository publicly available to the biosecurity management community worldwide.
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| 7. |
- Lam, MT, et al.
(author)
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A novel disorder involving dyshematopoiesis, inflammation, and HLH due to aberrant CDC42 function
- 2019
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In: The Journal of experimental medicine. - : Rockefeller University Press. - 1540-9538 .- 0022-1007. ; 216:12, s. 2778-2799
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Journal article (peer-reviewed)abstract
- Hemophagocytic lymphohistiocytosis (HLH) is characterized by immune dysregulation due to inadequate restraint of overactivated immune cells and is associated with a variable clinical spectrum having overlap with more common pathophysiologies. HLH is difficult to diagnose and can be part of inflammatory syndromes. Here, we identify a novel hematological/autoinflammatory condition (NOCARH syndrome) in four unrelated patients with superimposable features, including neonatal-onset cytopenia with dyshematopoiesis, autoinflammation, rash, and HLH. Patients shared the same de novo CDC42 mutation (Chr1:22417990C>T, p.R186C) and altered hematopoietic compartment, immune dysregulation, and inflammation. CDC42 mutations had been associated with syndromic neurodevelopmental disorders. In vitro and in vivo assays documented unique effects of p.R186C on CDC42 localization and function, correlating with the distinctiveness of the trait. Emapalumab was critical to the survival of one patient, who underwent successful bone marrow transplantation. Early recognition of the disorder and establishment of treatment followed by bone marrow transplant are important to survival.
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