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Sökning: WFRF:(Moretti Marta)

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1.
  • Alves, Ines, 1981-, et al. (författare)
  • A systematic literature review of the situation of the ICF and the ICF-CY in education
  • 2010
  • Konferensbidrag (refereegranskat)abstract
    • The International Classification of Functioning Disability and Health (ICF) is meant to be a universal language for professionals working with functioning and health in children and adults. So far most applications of ICF have been in the field of health sciences. Is it also applicable to education? This paper aims to present the outcome of a systematic literature review in the fields of education, more specifically education of children with disabilities or special educational needs and the ICF. Devised as a complementary classification of health and functioning by the World Health Organisation (WHO) in 2001 with a child and youth version (ICF-CY) published in 2007, the ICF appears to be mostly used in the medical field with reviews highlighting its use and applications (Bruyère, Van Looy, & Peterson, 2005). Thus, this literature review intends to situate the current debates in education which relate to the ICF and its concepts, and also to report the extent to which it is being used. The major interest is to explore how the ICF/ICF-CY, are currently situated in the field of education. Method This study uses a systematic review of the literature using database keyword searches. The keywords used to search in the databases were applied after qualitative test searches were carried out to establish the suitability of the terms. The selection of studies was then refined further using inclusion and exclusion protocols. The protocols  investigated the paper contents at different levels: abstract, full -text, and full-text quality level. In addition an extraction protocol is also used on the included documents to draw on the points which arise from the research questions and provide the basis for the main discussion. Studies exploring the relationship between education, the ICF and its related concepts: participation, environment, and personal factors were reviewed.   Bruyère, S. M., Van Looy, S. A., & Peterson, D. B. (2005). The International Classification of Functioning, Disability and Health: Contemporary Literature Overview.   Rehabilitation Psychology 50(2), 113-121. WHO. (2001). International Classification of Functioning, Disability and Health. Geneva: WHO. WHO. (2007). International Classification of Functioning, Disability and Health, Version for Children and Youth, ICF-CY. Geneva: WHO.
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2.
  • Fresard, Laure, et al. (författare)
  • Identification of rare-disease genes using blood transcriptome sequencing and large control cohorts
  • 2019
  • Ingår i: Nature Medicine. - : NATURE PUBLISHING GROUP. - 1078-8956 .- 1546-170X. ; 25:6, s. 911-919
  • Tidskriftsartikel (refereegranskat)abstract
    • It is estimated that 350 million individuals worldwide suffer from rare diseases, which are predominantly caused by mutation in a single gene(1). The current molecular diagnostic rate is estimated at 50%, with whole-exome sequencing (WES) among the most successful approaches(2-5). For patients in whom WES is uninformative, RNA sequencing (RNA-seq) has shown diagnostic utility in specific tissues and diseases(6-8). This includes muscle biopsies from patients with undiagnosed rare muscle disorders(6,9), and cultured fibroblasts from patients with mitochondrial disorders(7). However, for many individuals, biopsies are not performed for clinical care, and tissues are difficult to access. We sought to assess the utility of RNA-seq from blood as a diagnostic tool for rare diseases of different pathophysiologies. We generated whole-blood RNA-seq from 94 individuals with undiagnosed rare diseases spanning 16 diverse disease categories. We developed a robust approach to compare data from these individuals with large sets of RNA-seq data for controls (n = 1,594 unrelated controls and n = 49 family members) and demonstrated the impacts of expression, splicing, gene and variant filtering strategies on disease gene identification. Across our cohort, we observed that RNA-seq yields a 7.5% diagnostic rate, and an additional 16.7% with improved candidate gene resolution.
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3.
  • Kattge, Jens, et al. (författare)
  • TRY plant trait database - enhanced coverage and open access
  • 2020
  • Ingår i: Global Change Biology. - : Wiley-Blackwell. - 1354-1013 .- 1365-2486. ; 26:1, s. 119-188
  • Tidskriftsartikel (refereegranskat)abstract
    • Plant traits-the morphological, anatomical, physiological, biochemical and phenological characteristics of plants-determine how plants respond to environmental factors, affect other trophic levels, and influence ecosystem properties and their benefits and detriments to people. Plant trait data thus represent the basis for a vast area of research spanning from evolutionary biology, community and functional ecology, to biodiversity conservation, ecosystem and landscape management, restoration, biogeography and earth system modelling. Since its foundation in 2007, the TRY database of plant traits has grown continuously. It now provides unprecedented data coverage under an open access data policy and is the main plant trait database used by the research community worldwide. Increasingly, the TRY database also supports new frontiers of trait-based plant research, including the identification of data gaps and the subsequent mobilization or measurement of new data. To support this development, in this article we evaluate the extent of the trait data compiled in TRY and analyse emerging patterns of data coverage and representativeness. Best species coverage is achieved for categorical traits-almost complete coverage for 'plant growth form'. However, most traits relevant for ecology and vegetation modelling are characterized by continuous intraspecific variation and trait-environmental relationships. These traits have to be measured on individual plants in their respective environment. Despite unprecedented data coverage, we observe a humbling lack of completeness and representativeness of these continuous traits in many aspects. We, therefore, conclude that reducing data gaps and biases in the TRY database remains a key challenge and requires a coordinated approach to data mobilization and trait measurements. This can only be achieved in collaboration with other initiatives.
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4.
  • Koutsogeorgou, Eleni, et al. (författare)
  • Evaluating social capital indicators and national inclusive education policies in six European countries
  • 2012
  • Ingår i: International Journal of Inclusive Education. - 1360-3116 .- 1464-5173.
  • Tidskriftsartikel (refereegranskat)abstract
    • This paper investigates how measures of social capital correspond with inclusive education policies by linking both to the ICF-CY. The method employs cross-country comparative analyses of six European countries – Germany, Greece, Romania, Spain, Sweden, and the United Kingdom – based on social capital indicators from the European Social Survey (Round 4-2008), along with comparison on the level of inclusive education policies within these countries by analyzing policies from a participation perspective. The results indicate that the ICF-CY is a useful tool for measuring both social capital and inclusive education policies, and although no connections could be drawn between social capital and inclusive education policy, the ICF-CY provided a consistent and common language for describing health and its related topics.
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5.
  • Kunkl, Martina, et al. (författare)
  • ISA-2011B, a phosphatidylinositol 4-phosphate 5-kinase a inhibitor, impairs CD28-dependent costimulatory and pro-inflammatory signals in human T lymphocytes
  • 2017
  • Ingår i: Frontiers in Immunology. - : Frontiers Media SA. - 1664-3224. ; 8:APR
  • Tidskriftsartikel (refereegranskat)abstract
    • Phosphatidylinositol 4,5-biphosphate (PIP2) is a membrane phospholipid that controls the activity of several proteins regulating cytoskeleton reorganization, cytokine gene expression, T cell survival, proliferation, and differentiation. Phosphatidylinositol 4-phosphate 5-kinases (PIP5Ks) are the main enzymes involved in PIP2 biosynthesis by phosphorylating phosphatidylinositol 4-monophosphate (PI4P) at the D5 position of the inositol ring. In human T lymphocytes, we recently found that CD28 costimulatory molecule is pivotal for PIP2 turnover by recruiting and activating PIP5Ka. We also found that PIP5Ka is the main regulator of both CD28 costimulatory signals integrating those delivered by TCR as well as CD28 autonomous signals regulating the expression of pro-inflammatory genes. Given emerging studies linking alterations of PIP2 metabolism to immune-based diseases, PIP5Ka may represent a promising target to modulate immunity and inflammation. Herewith, we characterized a recently discovered inhibitor of PIP5Ka, ISA-2011B, for its inhibitory effects on T lymphocyte functions. We found that the inhibition of PIP5Ka lipid-kinase activity by ISA-2011B significantly impaired CD28 costimulatory signals necessary for TCR-mediated Ca2+ influx, NF-AT transcriptional activity, and IL-2 gene expression as well as CD28 autonomous signals regulating the activation of NF-κB and the transcription of pro-inflammatory cytokine and chemokine genes. Moreover, our data on the inhibitory effects of ISA-2011B on CD28-mediated upregulation of inflammatory cytokines related to Th17 cell phenotype in type 1 diabetes patients suggest ISA-2011B as a promising anti-inflammatory drug.
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6.
  • Kunkl, Martina, et al. (författare)
  • ISA-2011B, a Phosphatidylinositol 4-Phosphate 5-Kinase alpha Inhibitor, impairs CD28-Dependent Costimulatory and Pro-inflammatory Signals in Human T Lymphocytes
  • 2017
  • Ingår i: Frontiers in Immunology. - : Frontiers Media SA. - 1664-3224. ; 8
  • Tidskriftsartikel (refereegranskat)abstract
    • Phosphatidylinositol 4,5-biphosphate (PIP2) is a membrane phospholipid that controls the activity of several proteins regulating cytoskeleton reorganization, cytokine gene expression, T cell survival, proliferation, and differentiation. Phosphatidylinositol 4-phosphate 5-kinases (PIP5Ks) are the main enzymes involved in PIP2 biosynthesis by phosphorylating phosphatidylinositol 4-monophosphate (PI4P) at the D5 position of the inositol ring. In human T lymphocytes, we recently found that CD28 costimulatory molecule is pivotal for PIP2 turnover by recruiting and activating PIP5K alpha. We also found that PIP5K alpha is the main regulator of both CD28 costimulatory signals integrating those delivered by TCR as well as CD28 autonomous signals regulating the expression of pro-inflammatory genes. Given emerging studies linking alterations of PIP2 metabolism to immune-based diseases, PIP5Ka may represent a promising target to modulate immunity and inflammation. Herewith, we characterized a recently discovered inhibitor of PIP5K alpha, ISA-2011B, for its inhibitory effects on T lymphocyte functions. We found that the inhibition of PIP5K alpha lipid-kinase activity by ISA-2011B significantly impaired CD28 costimulatory signals necessary for TCR-mediated Ca2+ influx, NF-AT transcriptional activity, and IL-2 gene expression as well as CD28 autonomous signals regulating the activation of NF-kappa B and the transcription of pro-inflammatory cytokine and chemokine genes. Moreover, our data on the inhibitory effects of ISA-2011B on CD28-mediated upregulation of inflammatory cytokines related to Th17 cell phenotype in type 1 diabetes patients suggest ISA-2011B as a promising anti-inflammatory drug.
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7.
  • Maxwell, Gregor, 1980-, et al. (författare)
  • A Systematic Literature Review of the ICF/ICF-CY in Education: A Useful Tool for Inclusion or a Flight of Fantasy?
  • 2010
  • Konferensbidrag (refereegranskat)abstract
    • The International Classification of Functioning Disability and Health (ICF) is meant to be a universal language for professionals working with functioning and health in children and adults. So far most applications of ICF have been in the field of health sciences. Is it also applicable to education? This paper aims to present the outcome of a systematic literature review in the fields of education, more specifically education of children with disabilities or special educational needs and the ICF. Devised as a complementary classification of health and functioning by the World Health Organisation (WHO) in 2001 with a child and youth version (ICF-CY) published in 2007, it introduces a biopsycosocial approach to functioning. This stresses the importance of the environment and participation experience and incorporates components described at the body, individual and societal levels. One of the aims of inclusive education is to enhance the access and participation of children with disabilities (UNESCO, 1994; United Nations, 1989, 2006). From a disability perspective the biopsychosocial model emphasizes that the needs of persons with disabilities being not just medical but more broadly, social, educational and functional in nature (Simeonsson et al., 2003).  Disability is understood as a complex interaction between a health condition and contextual factors and not as an attribute of a person. The ICF appears to be mostly used in the medical field with reviews highlighting its use and applications (Bruyère, Van Looy, & Peterson, 2005). However, if there is considerable work done in terms of the use of the ICF/ICF-CY in the medical and rehabilitation fields, this does not appear to be the case when we consider its presence, concepts and model in the field of education: it is unknown how well received or known the ICF is in the educational field. Thus, this literature review intends to situate the current debates in education, such as additional support, eligibility, and goal planning, which relate to the ICF and its concepts and also to report the extent to which it is being used. The main interest of this literature review is to explore how the ICF and its child and youth version (ICF-CY), are currently situated in the field of education with respect to various processes at different levels with an international perspective. This research focus can be broken into three key questions:- Is the ICF/ ICF-CY is used in educational context today? If yes, how is it used?- What critical points arise when using the ICF/ ICF-CY in educational settings, namely what are the possible effects of the use of the ICF/ ICF-CY in the approaches to additional support provision with a view to ensuring inclusion?- Are the ICF/ ICF-CY components present in the reviewed articles, namely how is the environment described, which personal factors are mentioned, and how is the concept of participation used?   Method This study uses a systematic review of the literature using database keyword searches. Studies exploring the relationship between education, the ICF and its related concepts: participation, environment, and personal factors were sought. The keywords used to search in the databases were applied after qualitative test searches were carried out to establish the suitability of the terms. The selection of studies was then refined further using inclusion and exclusion protocols. The protocols investigated the paper contents at different levels: abstract, full-text, and full-text quality level. In addition an extraction protocol is also used on the included documents to draw on the points which arise from the research questions and provide the basis for the main discussion. Expected Outcomes The final search was limited to works which had an ICF and an educational focus and using this strategy 423 studies were found. The primary-step protocol stipulated that abstracts containing at least one ICF-related factor, and at least one education-related factor were included. All of the authors examined the first 100 abstracts and a check for inter-rater reliability was made. Approximately 150 further abstracts were examined by each of the authors ensuring that the majority of the abstracts were reviewed by more than one author. Overall inter-rater reliability was calculated. After the primary stage 70 abstracts met the inclusion criteria for the second stage of review at full-text level. Preliminary results suggest that there is little application of the ICF/ICF-CY at different levels of education systems. When it is used it appears to be linked to SEN, Special Education, Special Needs, disability in general or specific disabilities. Whether the framework itself will be of direct use for different education purposes remains to be resolved. It is the view of the authors, having undertaking this review, that the concepts ICF/ICF-CY introduces – especially those of disability and participation – will have a long-lasting and positive effect on inclusive education. References Bruyère, S. M., Van Looy, S. A., & Peterson, D. B. (2005). The International Classification of Functioning, Disability and Health: Contemporary Literature Overview. Rehabilitation Psychology 50(2), 113-121. Simeonsson, R. J., Leonardi, M., Lollar, D., Bjorck-Akesson, E., Hollenweger, J., & Martinuzzi, A. (2003). Applying the International Classification of Functioning, Disability and Health (ICF) to measure childhood disability. Disability and Rehabilitation, 25(11-12), 602-610. UNESCO (1994). Salamanca Statement and Framework for Action on Special Needs Education. United Nations. (1989). Convention on the Rights of the Child. United Nations. (2006). Convention on the Rights of Persons with Disabilities. WHO. (2001). International Classification of Functioning, Disability and Health. Geneva: WHO. WHO. (2007). International Classification of Functioning, Disability and Health, Version for Children and Youth, ICF-CY. Geneva: WHO.  
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8.
  • Maxwell, Gregor, 1980-, et al. (författare)
  • The ICF-CY as a tool to enhance communication between education professionals : Applying the ICF coding rules to education documents
  • 2010
  • Konferensbidrag (refereegranskat)abstract
    • Abstract The International Classification of Functioning Disability and Health (ICF) and its child and youth derivative the ICF-CY is meant to be a universal language for professionals working with functioning and health in children and adults. Use of the ICF-CY's codes in educational documents which refer to individual characteristics – such as individual education plans – could greatly enhance communication between support professionals. To date this has not been attempted. This paper proposes to use and adapt an established health and rehabilitation-based coding methodology (Cieza et al., 2005) to do this. This project looks to validate and adapt the use of ICF coding rules on education documents. This project will also validate whether ICF-CY codes give a good description of a child and their learning environment, or whether the ICF-CY could be better used in another way to construct a tool to do this. This study also aims to establish whether the ICF-CY can be directly used to enhanced communication between differing education support professionals and between support professionals and parents. Initially devised in 2002 (Cieza et al., 2002) with an update in 2005 (Cieza et al., 2005) there currently exists coding rules or guidelines for coding textual information to ICF values. This has so far only been applied in the health and rehabilitation field. We propose to use these in education by coding information specific to individuals (such as that found in individual education plans).
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9.
  • Moretti, Marta, 1980-, et al. (författare)
  • A Systematic Literature Review of the Situation of the International Classification of Functioning, Disability, and Health and the International Classification of Functioning, Disability, and Health–Children and Youth Version in Education: A Useful Tool or a Flight of Fancy?
  • 2012
  • Ingår i: American Journal of Physical Medicine & Rehabilitation. - 0894-9115 .- 1537-7385. ; 91:13, s. S103-S117
  • Tidskriftsartikel (refereegranskat)abstract
    • This article presents the outcome of a systematic literature review exploring theapplicability of the International Classification of Functioning, Disability, and Health(ICF) and its Children and Youth version (ICF-CY) at various levels and in processeswithin the education systems in different countries. A systematic databasesearch using selected search terms has been used. The selection of studies wasthen refined further using four protocols: inclusion and exclusion protocols at abstractand full text and extraction levels along with a quality protocol. Studies exploring thedirect relationship between education and the ICF/ICF-CY were sought.As expected, the results show a strong presence of studies from Englishspeakingcountries, namely from Europe and North America. The articles weremainly published in noneducational journals. The most used ICF/ICF-CY componentsare activity and participation, participation, and environmental factors.From the analysis of the papers included, the results show that the ICF/ICF-CY iscurrently used as a research tool, theoretical framework, and tool for implementingeducational processes. The ICF/ICF-CY can provide a useful language to theeducation field where there is currently a lot of disparity in theoretical, praxis, andresearch issues. Although the systematic literature review does not report a highincidence of the use of the ICF/ICF-CY in education, the results show that the ICF/ICF-CYmodel and classification have potential to be applied in education systems.
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10.
  • Soffitta, Paolo, et al. (författare)
  • XIPE : the X-ray imaging polarimetry explorer
  • 2013
  • Ingår i: Experimental astronomy. - : Springer Science and Business Media LLC. - 0922-6435 .- 1572-9508. ; 36:3, s. 523-567
  • Tidskriftsartikel (refereegranskat)abstract
    • X-ray polarimetry, sometimes alone, and sometimes coupled to spectral and temporal variability measurements and to imaging, allows a wealth of physical phenomena in astrophysics to be studied. X-ray polarimetry investigates the acceleration process, for example, including those typical of magnetic reconnection in solar flares, but also emission in the strong magnetic fields of neutron stars and white dwarfs. It detects scattering in asymmetric structures such as accretion disks and columns, and in the so-called molecular torus and ionization cones. In addition, it allows fundamental physics in regimes of gravity and of magnetic field intensity not accessible to experiments on the Earth to be probed. Finally, models that describe fundamental interactions (e.g. quantum gravity and the extension of the Standard Model) can be tested. We describe in this paper the X-ray Imaging Polarimetry Explorer (XIPE), proposed in June 2012 to the first ESA call for a small mission with a launch in 2017. The proposal was, unfortunately, not selected. To be compliant with this schedule, we designed the payload mostly with existing items. The XIPE proposal takes advantage of the completed phase A of POLARIX for an ASI small mission program that was cancelled, but is different in many aspects: the detectors, the presence of a solar flare polarimeter and photometer and the use of a light platform derived by a mass production for a cluster of satellites. XIPE is composed of two out of the three existing JET-X telescopes with two Gas Pixel Detectors (GPD) filled with a He-DME mixture at their focus. Two additional GPDs filled with a 3-bar Ar-DME mixture always face the Sun to detect polarization from solar flares. The Minimum Detectable Polarization of a 1 mCrab source reaches 14 % in the 2-10 keV band in 10(5) s for pointed observations, and 0.6 % for an X10 class solar flare in the 15-35 keV energy band. The imaging capability is 24 arcsec Half Energy Width (HEW) in a Field of View of 14.7 arcmin x 14.7 arcmin. The spectral resolution is 20 % at 6 keV and the time resolution is 8 mu s. The imaging capabilities of the JET-X optics and of the GPD have been demonstrated by a recent calibration campaign at PANTER X-ray test facility of the Max-Planck-Institut fur extraterrestrische Physik (MPE, Germany). XIPE takes advantage of a low-earth equatorial orbit with Malindi as down-link station and of a Mission Operation Center (MOC) at INPE (Brazil). The data policy is organized with a Core Program that comprises three months of Science Verification Phase and 25 % of net observing time in the following 2 years. A competitive Guest Observer program covers the remaining 75 % of the net observing time.
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