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1.
  • Zouganelis, I., et al. (author)
  • The Solar Orbiter Science Activity Plan : Translating solar and heliospheric physics questions into action
  • 2020
  • In: Astronomy and Astrophysics. - : EDP SCIENCES S A. - 0004-6361 .- 1432-0746. ; 642
  • Journal article (peer-reviewed)abstract
    • Solar Orbiter is the first space mission observing the solar plasma both in situ and remotely, from a close distance, in and out of the ecliptic. The ultimate goal is to understand how the Sun produces and controls the heliosphere, filling the Solar System and driving the planetary environments. With six remote-sensing and four in-situ instrument suites, the coordination and planning of the operations are essential to address the following four top-level science questions: (1) What drives the solar wind and where does the coronal magnetic field originate?; (2) How do solar transients drive heliospheric variability?; (3) How do solar eruptions produce energetic particle radiation that fills the heliosphere?; (4) How does the solar dynamo work and drive connections between the Sun and the heliosphere? Maximising the mission's science return requires considering the characteristics of each orbit, including the relative position of the spacecraft to Earth (affecting downlink rates), trajectory events (such as gravitational assist manoeuvres), and the phase of the solar activity cycle. Furthermore, since each orbit's science telemetry will be downloaded over the course of the following orbit, science operations must be planned at mission level, rather than at the level of individual orbits. It is important to explore the way in which those science questions are translated into an actual plan of observations that fits into the mission, thus ensuring that no opportunities are missed. First, the overarching goals are broken down into specific, answerable questions along with the required observations and the so-called Science Activity Plan (SAP) is developed to achieve this. The SAP groups objectives that require similar observations into Solar Orbiter Observing Plans, resulting in a strategic, top-level view of the optimal opportunities for science observations during the mission lifetime. This allows for all four mission goals to be addressed. In this paper, we introduce Solar Orbiter's SAP through a series of examples and the strategy being followed.
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  • Bayley, PJ, et al. (author)
  • 2013 SYR Accepted Poster Abstracts
  • 2013
  • In: International journal of yoga therapy. - 1531-2054. ; 23:1, s. 32-53
  • Journal article (peer-reviewed)
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  • Boxall, A. B. A., et al. (author)
  • Pharmaceuticals and Personal Care Products in the Environment: What Are the Big Questions?
  • 2012
  • In: Environmental Health Perspectives. - : Environmental Health Perspectives. - 0091-6765 .- 1552-9924. ; 120:9, s. 1221-1229
  • Journal article (peer-reviewed)abstract
    • BACKGROUND: Over the past 10-15 years, a substantial amount of work has been done by the scientific, regulatory, and business communities to elucidate the effects and risks of pharmaceuticals and personal care products (PPCPs) in the environment. OBJECTIVE: This review was undertaken to identify key outstanding issues regarding the effects of PPCPs on human and ecological health in order to ensure that future resources will be focused on the most important areas. DATA SOURCES: To better understand and manage the risks of PPCPs in the environment, we used the "key question" approach to identify the principle issues that need to be addressed. Initially, questions were solicited from academic, government, and business communities around the world. A list of 101 questions was then discussed at an international expert workshop, and a top-20 list was developed. Following the workshop, workshop attendees ranked the 20 questions by importance. DATA SYNTHESIS: The top 20 priority questions fell into seven categories: a) prioritization of substances for assessment, b) pathways of exposure, c) bioavailability and uptake, a effects characterization, e) risk and relative risk, f) antibiotic resistance, and g) risk management. CONCLUSIONS: A large body of information is now available on PPCPs in the environment. This exercise prioritized the most critical questions to aid in development of future research programs on the topic.
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  • Pelletier, F., et al. (author)
  • Endocrine and Growth Abnormalities in 4H Leukodystrophy Caused by Variants in POLR3A, POLR3B, and POLR1C
  • 2021
  • In: Journal of Clinical Endocrinology & Metabolism. - : The Endocrine Society. - 0021-972X .- 1945-7197. ; 106:2
  • Journal article (peer-reviewed)abstract
    • Context: 4H or POLR3-related leukodystrophy is an autosomal recessive disorder typically characterized by hypomyelination, hypodontia, and hypogonadotropic hypogonadism, caused by biallelic pathogenic variants in POLR3A, POLR3B, POLR1C, and POLR3K. The endocrine and growth abnormalities associated with this disorder have not been thoroughly investigated to date. Objective: To systematically characterize endocrine abnormalities of patients with 4H leukodystrophy. Design: An international cross-sectional study was performed on 150 patients with genetically confirmed 4H leukodystrophy between 2015 and 2016. Endocrine and growth abnormalities were evaluated, and neurological and other non-neurological features were reviewed. Potential genotype/phenotype associations were also investigated. Setting: This was a multicenter retrospective study using information collected from 3 predominant centers. Patients: A total of 150 patients with 4H leukodystrophy and pathogenic variants in POLR3A, POLR3B, or POLR1C were included. Main Outcome Measures: Variables used to evaluate endocrine and growth abnormalities included pubertal history, hormone levels (estradiol, testosterone, stimulated LH and FSH, stimulated GH, IGF-I, prolactin, ACTH, cortisol, TSH, and T4), and height and head circumference charts. Results: The most common endocrine abnormalities were delayed puberty (57/74; 77% overall, 64% in males, 89% in females) and short stature (57/93; 61%), when evaluated according to physician assessment. Abnormal thyroid function was reported in 22% (13/59) of patients. Conclusions: Our results confirm pubertal abnormalities and short stature are the most common endocrine features seen in 4H leukodystrophy. However, we noted that endocrine abnormalities are typically underinvestigated in this patient population. A prospective study is required to formulate evidence-based recommendations for management of the endocrine manifestations of this disorder.
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  • Brownstein, Catherine A., et al. (author)
  • An international effort towards developing standards for best practices in analysis, interpretation and reporting of clinical genome sequencing results in the CLARITY Challenge
  • 2014
  • In: Genome Biology. - : Springer Science and Business Media LLC. - 1465-6906 .- 1474-760X. ; 15:3, s. R53-
  • Journal article (peer-reviewed)abstract
    • Background: There is tremendous potential for genome sequencing to improve clinical diagnosis and care once it becomes routinely accessible, but this will require formalizing research methods into clinical best practices in the areas of sequence data generation, analysis, interpretation and reporting. The CLARITY Challenge was designed to spur convergence in methods for diagnosing genetic disease starting from clinical case history and genome sequencing data. DNA samples were obtained from three families with heritable genetic disorders and genomic sequence data were donated by sequencing platform vendors. The challenge was to analyze and interpret these data with the goals of identifying disease-causing variants and reporting the findings in a clinically useful format. Participating contestant groups were solicited broadly, and an independent panel of judges evaluated their performance. Results: A total of 30 international groups were engaged. The entries reveal a general convergence of practices on most elements of the analysis and interpretation process. However, even given this commonality of approach, only two groups identified the consensus candidate variants in all disease cases, demonstrating a need for consistent fine-tuning of the generally accepted methods. There was greater diversity of the final clinical report content and in the patient consenting process, demonstrating that these areas require additional exploration and standardization. Conclusions: The CLARITY Challenge provides a comprehensive assessment of current practices for using genome sequencing to diagnose and report genetic diseases. There is remarkable convergence in bioinformatic techniques, but medical interpretation and reporting are areas that require further development by many groups.
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  • Sandercock, P, et al. (author)
  • Update on the third international stroke trial (IST-3) of thrombolysis for acute ischaemic stroke and baseline features of the 3035 patients recruited
  • 2011
  • In: Trials. - : Springer Science and Business Media LLC. - 1745-6215. ; 12, s. 252-
  • Journal article (peer-reviewed)abstract
    • BACKGROUND:Intravenous recombinant tissue plasminogen activator (rtPA) is approved in Europe for use in patients with acute ischaemic stroke who meet strictly defined criteria. IST-3 sought to improve the external validity and prediction of the estimates of the overall treatment effects (efficacy and safety) of rtPA in acute ischaemic stroke, and to determine whether a wider range of patients might benefit.DESIGN:International, multi-centre, prospective, randomized, open, blinded endpoint (PROBE) trial of intravenous rtPA in acute ischaemic stroke. Suitable patients had to be assessed and able to start treatment within 6 hours of developing symptoms, and brain imaging must have excluded intracranial haemorrhage and stroke mimics.RESULTS:The initial pilot phase was double blind and then, on 01/08/2003, changed to an open design. Recruitment began on 05/05/2000 and closed on 31/07/2011, by which time 3035 patients had been included, only 61 (2%) of whom met the criteria for the 2003 European approval for thrombolysis. 1617 patients were aged over 80 years at trial entry. The analysis plan will be finalised, without reference to the unblinded data, and published before the trial data are unblinded in early 2012. The main trial results will be presented at the European Stroke Conference in Lisbon in May 2012 with the aim to publish simultaneously in a peer-reviewed journal. The trial result will be presented in the context of an updated Cochrane systematic review. We also intend to include the trial data in an individual patient data meta-analysis of all the relevant randomised trials.CONCLUSION:The data from the trial will: improve the external validity and prediction of the estimates of the overall treatment effects (efficacy and safety) of iv rtPA in acute ischaemic stroke; provide: new evidence on the balance of risk and benefit of intravenous rtPA among types of patients who do not clearly meet the terms of the current EU approval; and, provide the first large-scale randomised evidence on effects in patients over 80, an age group which had largely been excluded from previous acute stroke trials. Trial registration ISRCTN25765518.
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  • Akyol, Z, et al. (author)
  • A response to the review of the community of inquiry framework
  • 2009
  • In: Journal of distance education = Revue de l'enseignement à distance. - 1916-6818. ; 23:2, s. 123-136
  • Journal article (peer-reviewed)abstract
    • The Community of Inquiry (CoI) framework has become a prominent model of teaching and learning in online and blended learning environments. Considerable research has been conducted which employs the framework with promising results, resulting in wide use to inform the practice of online and blended teaching and learning. For the CoI model to continue to grow and evolve, constructive critiques and debates are extremely beneficial, in so much as they identify potential problems and weaknesses in the model or its application, as well as provide direction for further research. In this context, the CoI framework was recently reviewed and critiqued by Rourke and Kanuka in their JDE article entitled “Learning in Communities of Inquiry: A Review of the Literature.” This paper is a response to this article and focuses on two main issues. The first issue is the focus of the review and critique on learning outcomes. The second issue concerns the representation, comprehensiveness, and methodology of the review.
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  • Arbaugh, J.B, et al. (author)
  • Developing a community of inquiry instrument : testing a measure of the Community of Inquiry framework using a multi-institutional sample
  • 2009
  • In: The Internet and higher education. - : Elsevier BV. - 1096-7516 .- 1873-5525. ; 11:3-4, s. 133-136
  • Journal article (peer-reviewed)abstract
    • This article reports on the multi-institutional development and validation of an instrument that attempts to operationalize Garrison, Anderson and Archer's Community of Inquiry (Col) framework (2000). The results of the study suggest that the instrument is a valid, reliable, and efficient measure of the dimensions of social presence and cognitive presence, thereby providing additional support for the validity of the Col as a framework for constructing effective online learning environments. While factor analysis supported the idea of teaching presence as a construct, it also suggested that the construct consisted of two factors-one related to course design and organization and the other related to instructor behavior during the course. The article concludes with a discussion of potential implications of further refinement of the Col measures for researchers, designers, administrators, and instructors.
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  • Buch, S., et al. (author)
  • Genetic variation in TERT modifies the risk of hepatocellular carcinoma in alcohol-related cirrhosis: results from a genome-wide case-control study
  • 2023
  • In: Gut. - : BMJ. - 0017-5749 .- 1468-3288. ; 72:2, s. 381-391
  • Journal article (peer-reviewed)abstract
    • Objective Hepatocellular carcinoma (HCC) often develops in patients with alcohol-related cirrhosis at an annual risk of up to 2.5%. Some host genetic risk factors have been identified but do not account for the majority of the variance in occurrence. This study aimed to identify novel susceptibility loci for the development of HCC in people with alcohol related cirrhosis. Design Patients with alcohol-related cirrhosis and HCC (cases: n=1214) and controls without HCC (n=1866), recruited from Germany, Austria, Switzerland, Italy and the UK, were included in a two-stage genome-wide association study using a case-control design. A validation cohort of 1520 people misusing alcohol but with no evidence of liver disease was included to control for possible association effects with alcohol misuse. Genotyping was performed using the InfiniumGlobal Screening Array (V.24v2, Illumina) and the OmniExpress Array (V.24v1-0a, Illumina). Results Associations with variants rs738409 in PNPLA3 and rs58542926 in TM6SF2 previously associated with an increased risk of HCC in patients with alcohol-related cirrhosis were confirmed at genome-wide significance. A novel locus rs2242652(A) in TERT (telomerase reverse transcriptase) was also associated with a decreased risk of HCC, in the combined meta-analysis, at genome-wide significance (p=6.41x10(-9), OR=0.61 (95% CI 0.52 to 0.70). This protective association remained significant after correction for sex, age, body mass index and type 2 diabetes (p=7.94x10(-5), OR=0.63 (95% CI 0.50 to 0.79). Carriage of rs2242652(A) in TERT was associated with an increased leucocyte telomere length (p=2.12x10(-44)). Conclusion This study identifies rs2242652 in TERT as a novel protective factor for HCC in patients with alcohol-related cirrhosis.
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  • Cleveland-Innes, Marta, et al. (author)
  • Back to the future : What’s next for the online community of inquiry?
  • 2007
  • Conference paper (peer-reviewed)abstract
    • The academic and social domains are represented in the online community of inquiry model by three elements called presences: Social, cognitive and teaching presence. To date, much research has been done on this model, yet many questions regarding the complexity of online learning remain. What research has been done to validate this model, and what else do we need to explore the intricacies of the three presences?
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  • Horsley, A R, et al. (author)
  • Lung clearance index is a sensitive, repeatable and practical measure of airways disease in adults with cystic fibrosis.
  • 2008
  • In: Thorax. - : BMJ. - 1468-3296 .- 0040-6376. ; 63:2, s. 135-40
  • Journal article (peer-reviewed)abstract
    • BACKGROUND: Lung clearance index (LCI) is a sensitive marker of early lung disease in children but has not been assessed in adults. Measurement is hindered by the complexity of the equipment required. The aims of this study were to assess performance of a novel gas analyser (Innocor) and to use it as a clinical tool for the measurement of LCI in cystic fibrosis (CF). METHODS: LCI was measured in 48 healthy adults, 12 healthy school-age children and 33 adults with CF by performing an inert gas washout from 0.2% sulfur hexafluoride (SF6). SF6 signal:noise ratio and 10-90% rise time of Innocor were compared with a mass spectrometer used in similar studies in children. RESULTS: Compared with the mass spectrometer, Innocor had a superior signal:noise ratio but a slower rise time (150 ms vs 60 ms) which may limit its use in very young children. Mean (SD) LCI in healthy adults was significantly different from that in patients with CF: 6.7 (0.4) vs 13.1 (3.8), p<0.001. Ten of the patients with CF had forced expiratory volume in 1 s > or = 80% predicted but only one had a normal LCI. LCI repeats were reproducible in all three groups of subjects (mean intra-visit coefficient of variation ranged from 3.6% to 5.4%). CONCLUSIONS: Innocor can be adapted to measure LCI and affords a simpler alternative to a mass spectrometer. LCI is raised in adults with CF with normal spirometry, and may prove to be a more sensitive marker of the effects of treatment in this group.
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  • Kenigsberg, PA, et al. (author)
  • Assistive Technologies to Address Capabilities of People with Dementia: From Research to Practice
  • 2019
  • In: Dementia (London, England). - : SAGE Publications. - 1741-2684 .- 1471-3012. ; 18:4, s. 1568-1595
  • Journal article (peer-reviewed)abstract
    • Assistive technologies became pervasive and virtually present in all our life domains. They can be either an enabler or an obstacle leading to social exclusion. The Fondation Médéric Alzheimer gathered international experts of dementia care, with backgrounds in biomedical, human and social sciences, to analyze how assistive technologies can address the capabilities of people with dementia, on the basis of their needs. Discussion covered the unmet needs of people with dementia, the domains of daily life activities where assistive technologies can provide help to people with dementia, the enabling and empowering impact of technology to improve their safety and wellbeing, barriers and limits of use, technology assessment, ethical and legal issues. The capability approach (possible freedom) appears particularly relevant in person-centered dementia care and technology development. The focus is not on the solution, rather on what the person can do with it: seeing dementia as disability, with technology as an enabler to promote capabilities of the person, provides a useful framework for both research and practice. This article summarizes how these concepts took momentum in professional practice and public policies in the past 15 years (2000–2015), discusses current issues in the design, development and economic model of assistive technologies for people with dementia, and covers how these technologies are being used and assessed.
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  • Mac Innes, Hanna, 1980, et al. (author)
  • The inverse care law and the significance of income for utilization of longterm care services in a Nordic welfare state
  • 2021
  • In: Social Science & Medicine. - : Elsevier BV. - 0277-9536. ; 282
  • Journal article (peer-reviewed)abstract
    • The Inverse Care Law states that the availability of good medical care tends to vary inversely with the need of the population served, with previous research indicating that migrant populations might be particularly at risk of this phenomenon. However, the degree to which the law applies to long-term care services (LTCS) in diverse ageing societies, where sizable older migrant populations need to be accounted for, has not been well investigated. To ensure equitable service provision, and to achieve European goals promoting a social right to care, it is critical to assess the extent to which such diverse populations are being neglected. This paper investigates the relationship between income and utilization of LTCS in Sweden amongst older native-born residents and older migrants born in low-, middle-, and high-income countries. The universality of its welfare system and the documented income differentials between foreign- and Swedish-born persons makes Sweden a particularly interesting case for assessing whether the most disadvantaged are the most underserved. The analysis uses register data on a total population of all older residents in Sweden, encompassing approximately two million persons. The results indicate that the Inverse Care Law does not apply to the utilization of LTCS by Swedish-born older people, nor by the majority of older migrants. However, the Inverse Care Law does appear to operate for older persons born in low-income countries who do not have a partner.
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  • Richardson, J. C., et al. (author)
  • Using the community of inquiry framework to inform effective instructional design
  • 2012
  • In: The Next Generation of Distance Education. - Boston, MA : Springer US. - 9781461417859 - 1461417848 - 9781461417842 ; , s. 97-125
  • Book chapter (other academic/artistic)abstract
    • The Community of Inquiry (CoI) model views the online learning experience as a function of the relationship between three elements: social presence, teaching presence, and cognitive presence. The proposed panel and chapter will focus on how the CoI framework can be used to guide the design and implementation of online courses through the explication of measures verifying the CoI. In addition, factors external but influential to the model-technology, disciplinary differences, and the role of the online instructor-are reviewed.
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  • Swan, K., et al. (author)
  • Validating a measurement tool of presence in online communities of inquiry
  • 2008
  • In: E-mentor. - 1731-6758 .- 1731-7428. ; 2:24
  • Journal article (peer-reviewed)abstract
    • This article examines work related to the development and validation of a measurement tool for the Communityof Inquiry (CoI) framework in online settings. The framework consists of three elements: social presence,teaching presence and cognitive presence, each of which is integral to the instrument. The 34 item instrument,and thus framework, was tested after being administered at four institutions in the Summer of 2007. The articlealso includes a discussion of implications for the future use of the CoI survey and the CoI framework itself.
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