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- 2019
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Tidskriftsartikel (refereegranskat)
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- Watson, H. J., et al.
(författare)
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Genome-wide association study identifies eight risk loci and implicates metabo-psychiatric origins for anorexia nervosa
- 2019
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Ingår i: Nature Genetics. - : Springer Science and Business Media LLC. - 1061-4036 .- 1546-1718. ; 51:8
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Tidskriftsartikel (refereegranskat)abstract
- Characterized primarily by a low body-mass index, anorexia nervosa is a complex and serious illness(1), affecting 0.9-4% of women and 0.3% of men(2-4), with twin-based heritability estimates of 50-60%(5). Mortality rates are higher than those in other psychiatric disorders(6), and outcomes are unacceptably poor(7). Here we combine data from the Anorexia Nervosa Genetics Initiative (ANGI)(8,9) and the Eating Disorders Working Group of the Psychiatric Genomics Consortium (PGC-ED) and conduct a genome-wide association study of 16,992 cases of anorexia nervosa and 55,525 controls, identifying eight significant loci. The genetic architecture of anorexia nervosa mirrors its clinical presentation, showing significant genetic correlations with psychiatric disorders, physical activity, and metabolic (including glycemic), lipid and anthropometric traits, independent of the effects of common variants associated with body-mass index. These results further encourage a reconceptualization of anorexia nervosa as a metabo-psychiatric disorder. Elucidating the metabolic component is a critical direction for future research, and paying attention to both psychiatric and metabolic components may be key to improving outcomes.
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- Martell, S., et al.
(författare)
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The GALAH survey : Scientific motivation
- 2015
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Ingår i: Monthly Notices of the Royal Astronomical Society. - : Oxford University Press (OUP). - 0035-8711 .- 1365-2966. ; 449:3
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Tidskriftsartikel (refereegranskat)abstract
- The Galactic Archaeology with HERMES (GALAH) survey is a large high-resolution spectroscopic survey using the newly commissioned High Efficiency and Resolution Multi-Element Spectrograph (HERMES) on the Anglo-Australian Telescope. The HERMES spectrograph provides high-resolution (R ~ 28 000) spectra in four passbands for 392 stars simultaneously over a 2 deg field of view. The goal of the survey is to unravel the formation and evolutionary history of the Milky Way, using fossil remnants of ancient star formation events which have been disrupted and are now dispersed throughout the Galaxy. Chemical tagging seeks to identify such dispersed remnants solely from their common and unique chemical signatures; these groups are unidentifiable from their spatial, photometric or kinematic properties. To carry out chemical tagging, the GALAH survey will acquire spectra for a million stars down to V ~ 14. The HERMES spectra of FGK stars contain absorption lines from 29 elements including light proton-capture elements, α-elements, odd-Z elements, iron-peak elements and n-capture elements from the light and heavy s-process and the r-process. This paper describes the motivation and planned execution of the GALAH survey, and presents some results on the first-light performance of HERMES.
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- Costea, P. I., et al.
(författare)
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Enterotypes in the landscape of gut microbial community composition
- 2018
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Ingår i: Nature Microbiology. - : Springer Science and Business Media LLC. - 2058-5276. ; 3:1
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Tidskriftsartikel (refereegranskat)abstract
- Population stratification is a useful approach for a better understanding of complex biological problems in human health and wellbeing. The proposal that such stratification applies to the human gut microbiome, in the form of distinct community composition types termed enterotypes, has been met with both excitement and controversy. In view of accumulated data and re-analyses since the original work, we revisit the concept of enterotypes, discuss different methods of dividing up the landscape of possible microbiome configurations, and put these concepts into functional, ecological and medical contexts. As enterotypes are of use in describing the gut microbial community landscape and may become relevant in clinical practice, we aim to reconcile differing views and encourage a balanced application of the concept.
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- Mazereeuw-Hautier, J., et al.
(författare)
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Management of congenital ichthyoses : European guidelines of care, part two
- 2019
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Ingår i: British Journal of Dermatology. - : WILEY. - 0007-0963 .- 1365-2133. ; 180:3, s. 484-495
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Tidskriftsartikel (refereegranskat)abstract
- These guidelines for the management of congenital ichthyoses have been developed by a multidisciplinary group of European experts following a systematic review of the current literature, an expert conference held in Toulouse in 2016, and a consensus on the discussions. These guidelines summarize evidence and expert-based recommendations and intend to help clinicians with the management of these rare and often complex diseases. These guidelines comprise two sections. This is part two, covering the management of complications and the particularities of some forms of congenital ichthyosis. What's already known about this topic? Various symptomatic treatment options exist for congenital ichthyoses, but there are no European guidelines. What does this study add? These European guidelines for the management of congenital ichthyosis may help to improve outcomes and quality of life for patients. Linked Comment: Akiyama. Br J Dermatol 2019; 180:449-450. Plain language summary available online
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- Mazereeuw-Hautier, J., et al.
(författare)
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Management of congenital ichthyoses : European guidelines of care, part one
- 2019
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Ingår i: British Journal of Dermatology. - : Oxford University Press (OUP). - 0007-0963 .- 1365-2133. ; 180:2, s. 272-281
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Tidskriftsartikel (refereegranskat)abstract
- These guidelines for the management of congenital ichthyoses have been developed by a multidisciplinary group of European experts following a systematic review of the current literature, an expert conference held in Toulouse in 2016 and a consensus on the discussions. They summarize evidence and expert-based recommendations and are intended to help clinicians with the management of these rare and often complex diseases. These guidelines comprise two sections. This is part one, covering topical therapies, systemic therapies, psychosocial management, communicating the diagnosis and genetic counselling.
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- Pavel, M., et al.
(författare)
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ENETS Consensus Guidelines Update for the Management of Distant Metastatic Disease of Intestinal, Pancreatic, Bronchial Neuroendocrine Neoplasms (NEN) and NEN of Unknown Primary Site
- 2016
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Ingår i: Neuroendocrinology. - : S. Karger AG. - 0028-3835 .- 1423-0194. ; 103:2, s. 172-185
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Tidskriftsartikel (refereegranskat)abstract
- The goal of this paper is to update a more extensive review and guidelines paper published in 2012 [1] . Gen-erally, any pertinent update pertaining to the diagnosis and staging of individual primary tumors is provided in the relevant papers published elsewhere in this issue of updated guideline reviews. More specific issues with re-spect to therapy of stage IV neuroendocrine neoplasms (NEN) (focusing on grade1/2 tumors) are given below. A separate guideline is provided for poorly differentiated neoplasms (grade 3 NEN). As some new large phase III trials have been published since the previous guidelines, this has indeed led to specific modifications in our ap-proach to therapy.
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- Knigge, U., et al.
(författare)
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ENETS Consensus Recommendations for the Standards of Care in Neuroendocrine Neoplasms : Follow-Up and Documentation
- 2017
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Ingår i: Neuroendocrinology. - : S. Karger AG. - 0028-3835 .- 1423-0194. ; 105:3, s. 310-319
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Tidskriftsartikel (refereegranskat)abstract
- ENETS consensus recommendations for the standards of care in neuroendocrine neoplasms (NEN) concerning follow-up and documentation are considered in this review. The documentation of patients with NEN should include the most relevant data characterizing an individual patient from the first contact with his/her physician/hospital until his/her last presentation during follow-up. It is advocated that follow-up occurs in specialized NEN centers with regular NEN tumor boards with expert panels. The follow-up should be in accordance with the ENETS consensus guidelines from 2011 and 2016, the present and coming WHO classification and ENETS/UICC recommendations for TNM staging. The recommendations for follow-up in patients with thymic, bronchopulmonary and gastroenteropancreatic NEN are given in Table 1. However, it should be stressed that evidence-based studies for follow-up are largely missing.
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- O'Toole, M. S., et al.
(författare)
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Effects of psychological interventions on systemic levels of inflammatory biomarkers in humans : A systematic review and meta-analysis
- 2018
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Ingår i: Brain, behavior, and immunity. - : Elsevier BV. - 0889-1591 .- 1090-2139. ; 74, s. 68-78
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Forskningsöversikt (refereegranskat)abstract
- The purpose of the present investigation was to systematically review randomized controlled trials examining the effects of psychological interventions on inflammatory biomarkers in adult populations and to quantitatively analyze those effects by meta-analysis. Two researchers independently searched key electronic databases, selected eligible publications, extracted data, and evaluated methodological quality. Nineteen randomized controlled trials examining a total of 1510 participants were included. The overall combined effect size from pre to post psychological intervention on pro-inflammatory biomarker levels was statistically significant, showing an attenuating effect, although of a small magnitude (s’ g = 0.15, p = .008, CI [0.04–0.26]). However, this effect was not maintained into the follow-up period (g < −0.01, p = .964, CI [−0.19–0.18]). Looking at the individual biomarkers assessed across studies, only C-reactive protein (CRP) was found to significantly decrease following psychological intervention. A number of moderation analyses were conducted, none of which reached statistical significance. However, the numerically largest – and significant – within-group effect size was obtained for the group of studies that had preselected participants based on elevated psychological distress (g = 0.29, p = .047). In conclusion, psychological interventions appear efficacious in reducing pro-inflammatory biomarker levels. Future studies are recommended to carefully select individuals based on inflammatory (e.g., the presence of low-grade inflammation) and/or psychological (e.g., psychological distress) criteria.
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