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| 2. |
- Nijkamp, P., et al.
(author)
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Towards a regional science academy : A manifesto
- 2016
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In: Region. - : European Regional Science Association. - 2409-5370. ; 3:1, s. R1-R16
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Journal article (peer-reviewed)abstract
- This Manifesto provides a joint proposal to create a Regional Science Academy as a think-tank support platform for a strategic development of the spatial sciences. The Regional Science Academy is a strategic spatial knowledge catalyst: it acts as a global intellectual powerhouse for new knowledge network initiatives and scholarly views on regions and cities as vital centrepieces of interconnected spatial systems. This contribution highlights its role and presents various activity plans.
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| 3. |
- Smith, Jennifer A, et al.
(author)
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Genome-wide association study identifies 74 loci associated with educational attainment
- 2016
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In: Nature (London). - : Springer Science and Business Media LLC. - 1476-4687 .- 0028-0836. ; 533:7604, s. 539-542
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Journal article (peer-reviewed)abstract
- Educational attainment is strongly influenced by social and other environmental factors, but genetic factors are estimated to account for at least 20% of the variation across individuals. Here we report the results of a genome-wide association study (GWAS) for educational attainment that extends our earlier discovery sample of 101,069 individuals to 293,723 individuals, and a replication study in an independent sample of 111,349 individuals from the UK Biobank. We identify 74 genome-wide significant loci associated with the number of years of schooling completed. Single-nucleotide polymorphisms associated with educational attainment are disproportionately found in genomic regions regulating gene expression in the fetal brain. Candidate genes are preferentially expressed in neural tissue, especially during the prenatal period, and enriched for biological pathways involved in neural development. Our findings demonstrate that, even for a behavioural phenotype that is mostly environmentally determined, a well-powered GWAS identifies replicable associated genetic variants that suggest biologically relevant pathways. Because educational attainment is measured in large numbers of individuals, it will continue to be useful as a proxy phenotype in efforts to characterize the genetic influences of related phenotypes, including cognition and neuropsychiatric diseases.
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| 4. |
- Mazereeuw-Hautier, J., et al.
(author)
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Management of congenital ichthyoses : European guidelines of care, part two
- 2019
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In: British Journal of Dermatology. - : WILEY. - 0007-0963 .- 1365-2133. ; 180:3, s. 484-495
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Journal article (peer-reviewed)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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| 5. |
- Mazereeuw-Hautier, J., et al.
(author)
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Management of congenital ichthyoses : European guidelines of care, part one
- 2019
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In: British Journal of Dermatology. - : Oxford University Press (OUP). - 0007-0963 .- 1365-2133. ; 180:2, s. 272-281
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Journal article (peer-reviewed)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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| 6. |
- Chernyshov, P. V., et al.
(author)
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Quality of life measurement in acne. Position Paper of the European Academy of Dermatology and Venereology Task Forces on Quality of Life and Patient Oriented Outcomes and Acne, Rosacea and Hidradenitis Suppurativa
- 2018
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In: Journal of the European Academy of Dermatology and Venereology. - : Wiley. - 0926-9959. ; 32:2, s. 194-208
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Research review (peer-reviewed)abstract
- Acne causes profound negative psychological and social effects on the quality of life (QoL) of patients. The European Dermatology Forum S3-Guideline for the Treatment of Acne recommended adopting a QoL measure as an integral part of acne management. Because of constantly growing interest in health-related QoL assessment in acne and because of the high impact of acne on patients' lives, the European Academy of Dermatology and Venereology Task Force on QoL and Patient Oriented Outcomes and the Task Force on Acne, Rosacea and Hidradenitis Suppurativa have documented the QoL instruments that have been used in acne patients, with information on validation, purposes of their usage, description of common limitations and mistakes in their usage and overall recommendations.
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| 7. |
- Ferizi, U., et al.
(author)
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Diffusion MRI microstructure models with in vivo human brain Connectome data: results from a multi-group comparison
- 2017
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In: NMR in Biomedicine. - : Wiley. - 0952-3480 .- 1099-1492. ; 30:9, s. Article no e3734 -
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Journal article (peer-reviewed)abstract
- A large number of mathematical models have been proposed to describe the measured signal in diffusion-weighted (DW) magnetic resonance imaging (MRI). However, model comparison to date focuses only on specific subclasses, e.g. compartment models or signal models, and little or no information is available in the literature on how performance varies among the different types of models. To address this deficiency, we organized the White Matter Modeling Challenge' during the International Symposium on Biomedical Imaging (ISBI) 2015 conference. This competition aimed to compare a range of different kinds of models in their ability to explain a large range of measurable in vivo DW human brain data. Specifically, we assessed the ability of models to predict the DW signal accurately for new diffusion gradients and b values. We did not evaluate the accuracy of estimated model parameters, as a ground truth is hard to obtain. We used the Connectome scanner at the Massachusetts General Hospital, using gradient strengths of up to 300mT/m and a broad set of diffusion times. We focused on assessing the DW signal prediction in two regions: the genu in the corpus callosum, where the fibres are relatively straight and parallel, and the fornix, where the configuration of fibres is more complex. The challenge participants had access to three-quarters of the dataset and their models were ranked on their ability to predict the remaining unseen quarter of the data. The challenge provided a unique opportunity for a quantitative comparison of diverse methods from multiple groups worldwide. The comparison of the challenge entries reveals interesting trends that could potentially influence the next generation of diffusion-based quantitative MRI techniques. The first is that signal models do not necessarily outperform tissue models; in fact, of those tested, tissue models rank highest on average. The second is that assuming a non-Gaussian (rather than purely Gaussian) noise model provides little improvement in prediction of unseen data, although it is possible that this may still have a beneficial effect on estimated parameter values. The third is that preprocessing the training data, here by omitting signal outliers, and using signal-predicting strategies, such as bootstrapping or cross-validation, could benefit the model fitting. The analysis in this study provides a benchmark for other models and the data remain available to build up a more complete comparison in the future.
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| 8. |
- Sampogna, Francesca, et al.
(author)
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Measuring the impact of dermatological conditions on family and caregivers : a review of dermatology-specific instruments
- 2017
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In: Journal of the European Academy of Dermatology and Venereology. - : Wiley. - 0926-9959. ; 31:9, s. 1429-1439
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Research review (peer-reviewed)abstract
- The patient is the centre of a web of relationships, and the impact of his/her disease on family members and caregivers must be taken into account. The aim of this study was to identify the specific instruments that measure the impact of a dermatological disease on the quality of life (QoL) of family members, by performing a systematic search of the literature. Fifteen papers were identified, describing the creation and validation of nine instruments. Four of them concerned atopic dermatitis (Dermatitis Family Index, DFI; Parents’ Index QoL Atopic Dermatitis, PiQoL-AD; QoL in primary caregivers of children with atopic dermatitis, QPCAD; Childhood Atopic Dermatitis Impact Scale, CADIS), two measured the impact of psoriasis in family members (Psoriasis Family Index, PFI; FamilyPso), one the impact of epidermolysis bullosa (Epidermolysis Bullosa Burden of Disease, EB-BoD), one of ichthyosis (Family Burden Ichthyosis, FBI), and one was generic for dermatological conditions (Family Dermatology Life Quality Index, FDLQI). The European Academy of Dermatology and Venereology quality of life taskforce recommends that the impact of a skin disease on family and caregivers should be measured as part of any thorough evaluation of the burden of a disease. Guidelines are given to choose the most appropriate instruments.
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