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1.
  • Astuto, Lisa M., et al. (författare)
  • Genetic heterogeneity of Usher syndrome : analysis of 151 families with Usher type 1
  • 2000
  • Ingår i: American Journal of Human Genetics. - : Elsevier BV. - 0002-9297 .- 1537-6605. ; 67:6, s. 1569-1574
  • Tidskriftsartikel (refereegranskat)abstract
    • Usher syndrome type I is an autosomal recessive disorder marked by hearing loss, vestibular areflexia, and retinitis pigmentosa. Six Usher I genetic subtypes at loci USH1A-USH1F have been reported. The MYO7A gene is responsible for USH1B, the most common subtype. In our analysis, 151 families with Usher I were screened by linkage and mutation analysis. MYO7A mutations were identified in 64 families with Usher I. Of the remaining 87 families, who were negative for MYO7A mutations, 54 were informative for linkage analysis and were screened with the remaining USH1 loci markers. Results of linkage and heterogeneity analyses showed no evidence of Usher types Ia or Ie. However, one maximum LOD score was observed lying within the USH1D region. Two lesser peak LOD scores were observed outside and between the putative regions for USH1D and USH1F, on chromosome 10. A HOMOG chi(2)((1)) plot shows evidence of heterogeneity across the USH1D, USH1F, and intervening regions. These results provide conclusive evidence that the second-most-common subtype of Usher I is due to genes on chromosome 10, and they confirm the existence of one Usher I gene in the previously defined USH1D region, as well as providing evidence for a second, and possibly a third, gene in the 10p/q region.
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2.
  • Calon, T. G. A., et al. (författare)
  • Minimally Invasive Ponto Surgery Versus the Linear Incision Technique With Soft Tissue Preservation for Bone Conduction Hearing Implants: A Multicenter Randomized Controlled Trial
  • 2018
  • Ingår i: Otology & Neurotology. - : Ovid Technologies (Wolters Kluwer Health). - 1531-7129 .- 1537-4505. ; 39:7, s. 882-893
  • Tidskriftsartikel (refereegranskat)abstract
    • Objective:To compare the surgical outcomes of the Minimally Invasive Ponto Surgery (MIPS) technique with those of the linear incision technique with soft-tissue preservation for bone-anchored hearing systems (BAHS).Design:Sponsor-initiated multicenter, open, randomized, controlled clinical trial.Setting:Maastricht University Medical Centre, Ziekenhuisgroep Twente and Medisch Centrum Leeuwarden, all situated in The Netherlands.Participants:Sixty-four adult patients eligible for unilateral BAHS surgery.Interventions Single-stage BAHS surgery with 1:1 randomization to the linear incision technique with soft-tissue preservation (control) or the MIPS (test) group.Primary and Secondary Outcome Measurements:Primary objective: compare the incidence of inflammation (Holgers Index 2) during 12 weeks' follow-up after surgery. Secondary objectives: skin dehiscence, pain scores, loss of sensibility around the implant, soft-tissue overgrowth, skin sagging, implant extrusion, cosmetic results, surgical time, wound healing and Implant Stability Quotient measurements.Results:Sixty-three subjects were analyzed in the intention-to-treat population. No significant difference was found for the incidence of inflammation between groups. Loss of skin sensibility, cosmetic outcomes, skin sagging, and surgical time were significantly better in the test group. No statistically significant differences were found for dehiscence, pain, and soft-tissue overgrowth. A nonsignificant difference in extrusion was found for the test group. The Implant Stability Quotient was statistically influenced by the surgical technique, abutment length, and time.Conclusion:No significant differences between the MIPS and the linear incision techniques were observed regarding skin inflammation. MIPS results in a statistically significant reduction in the loss of skin sensibility, less skin sagging, improved cosmetic results, and reduced surgical time. Although nonsignificant, the implant extrusion rate warrants further research.
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3.
  • Frost, Dan, 1964-, et al. (författare)
  • Tuning Educational Structures In Europe : Guidelines And Reference Points For The Design And Delivery Of Degree Programmes in Business
  • 2024
  • Bok (övrigt vetenskapligt/konstnärligt)abstract
    • General IntroductionThis Tuning Guidelines and Reference Points 2024 for the Design and Delivery of Degree Programmes in Business Administration serves as an international reference point for an academic discipline in the European Higher Education Area (EHEA) framework. It represents the current state of affairs in a fast-changing societal environment.This publication defines degree profiles and the tasks and societal roles graduates will take on, but also shows how different degrees fit into the wider context of overarching general and subject specific / discipline qualifications frameworks. In other words, what are the essential elements that constitute a particular subject area in higher education? Among other aspects, these Guidelines include general descriptors for the first and the second cycle, the bachelor and master/ long cycle, presented in easy-to-read tables, and are meant to be used as reference points for the design and delivery of individual degree programmes. According to the Tuning philosophy, each degree programme has its own unique profile, based on the mission of the institution and taking into account its social-cultural setting, its student body, and the strengths of its academic staff.The Guidelines and Reference Points are the outcome of a long and intense collaboration, starting in 2001, in conjunction with the early phases of the Bologna Process, which has now come to include 49 European countries. They are a result of the grassroots university-driven initiative called Tuning Educational Structures in Europe, or simply ‘Tuning’, that aims to offer a universally useful approach to the modernisation of higher education at the level of institutions and subject areas. The Tuning initiative has developed a methodology to (re-)design, develop, implement and evaluate study programmes for each of the Bologna cycles. These were validated in 2007-2008 by groups of respected academics from numerous disciplines. Since, developments have continued as reflected in several iterations, the latest being the Measuring and Comparing Achievements of Learning Outcomes in Higher Education in Europe (CALOHEE) projects (2018-2023). As all Tuning projects, the CALOHEE developments have been co-financed and strongly supported by the European Commission as part of its Erasmus+ Action programme. The Tuning methodology is based on the student-centred and active learning approaches it has promoted since its very launch. Tuning’s mission is to offer a platform for debate and reflection which leads to higher education models able to ensure that graduates are well prepared for their societal role, both in terms of employability and as citizens. Graduates need to have obtained as the outcome of their learning process the optimum set of competences required to execute their future tasks and take on their expected roles. As part of their education graduates should have developed levels of critical thinking and awareness that foster civic, social, environmental and cultural engagement. Recognition is given to current and possible future developments and issues. Using the Tuning reference points makes study programmes comparable, compatible and transparent. They are expressed in terms of learning outcomes and competences. Learning outcomes are statements of what a learner is expected to know, understand and be able to demonstrate after completion of a learning experience. According to Tuning, learning outcomes are expressed in terms of the level of competence to be obtained by the learner. Competences represent a dynamic combination of cognitive and meta-cognitive skills, knowledge and understanding, interpersonal, intellectual and practical skills, and ethical values. Fostering these competences is the object of all educational programmes. Competences are developed in all course units and assessed at all different stages of aprogramme. Some competences are subject area related (specific to a subject area), others are generic (relevant for many or all in degree programmes). According to the Tuning philosophy, subject specific competences and generic competences or general academic skills should be developed together. Normally competence development proceeds in an integrated and cyclical manner throughout a programme. The initial core competences of the subject area were identified in a consultation process involving four stakeholder groups - academics, graduates, students and employers over time. Consultation processes have been organised in many other parts of the world: these have been taken into consideration in developing this publication. This edition has been elaborated as part of the CALOHEE projects, which aim to develop an infrastructure allowing for comparing and measuring learning in a (trans)national perspective. Besides developing state of the art general and subject specific qualifications reference frameworks, it has also developed Learning Outcomes / Assessment Frameworks which offer even more detailed descriptors. The Assessment Reference Frameworks are included as an annex.To make levels of learning measurable, comparable and compatible across Europe academics from the single subject areas have developed cycle (level) descriptors expressed in terms of learning outcomes statements organised in qualifications reference frameworks tables. These are backed by Tuning-CALOHEE General Qualifications Reference Frameworks, which are based on a bridging of the two overarching European qualifications frameworks, the ‘Bologna’ Qualifications Framework for the EHEA (QF for the EHEA) and the EU European QualificationsFramework for Lifelong Learning (EQF for LLL). Paying reference to both by combining ‘the best of two worlds’. While the EQF for LLL is focused on the application of knowledge and skills in society, the focus of the FQ for the EHEA is more related to the learning process itself: it applies descriptors which cover different areas or ‘dimensions’ of learning: knowledge and understanding, application of knowledge and understanding in relation to problem solving, making judgments, communicating information and conclusions, and finally, knowing how to learn.In developing the Tuning-CALOHEE model, it has been realised that ‘dimensions’ are an indispensable tool, because they make it possible to distinguish the principal aspects that constitute the subject area. Dimensions help give structure to a particular sector or subject area and also make its basic characteristics more transparent. Furthermore, the ‘dimension approach’ is complementary to the categories included in the EQF for LLL, which uses the categories of ‘knowledge’, ‘skills’ and ‘autonomy and responsibility’ (wider competences) to structure its descriptors. Thus, in CALOHEE terms, the three columns correspond to a ‘knowledge reference framework’, a ‘skills reference framework’ and a ‘autonomy and responsibility reference framework’, linked by level. The last column, the ‘autonomy and responsibility reference framework’, refers to the wider world of work and society and identifies the competences required to operate successfully in the work place and as a citizen. It builds on the first two elements: knowledge and understanding and the skills necessary to develop and apply this knowledge.In addition to addressing cycle-level descriptors, Tuning has given attention to the Europe-wide use of the student workload based European Credit Transfer and Accumulation System (ECTS) to ensure the feasibility of student-centred degree programmes and other credentials. Some 20 years ago it transformed the original credit transfer system into a transfer and accumulation system. According to Tuning, ECTS not only allows student mobility across Europe and in other countries as well; it can also facilitate programme design and development, particularly with respect to coordinating and rationalising the demands made on students by concurrent course units. In other words, ECTS permits us to plan how best to use students' time to achieve the aims of the educational process, rather than considering teachers' time as the primary constraint and students' time as basically limitless.The use of the learning outcomes and competences approach implies changes regarding the teaching, learning and assessment methods. Tuning has identified approaches and best practices to form the key generic and subject specific competences. Some examples of good practice are included in this brochure. More detailed examples can be found in the subject area-based Learning Outcomes / Assessment Reference Frameworks.Finally, Tuning has drawn attention to the role of quality in the process of (re-)designing, developing and implementing study programmes. It has developed an approach for quality enhancement which involves all elements of the learning chain. It has also developed a number of tools and identified examples of good practice which can help institutions to improve the quality of their degree programmes.This brochure reflects the outcomes of the work done by the Subject Area Group (SAG) in Business Administration. The outcomes are presented in a template to facilitate readability and rapid comparison across the subject areas. The summary aims to provide, in a very succinct manner, the basic elements for a quick introduction into the subject area. It shows in synthesis the consensus reached by a subject area group after intense and lively discussions in the group.We hope that this publication will be of interest to many, and look forward to receiving comments and suggestions from the stakeholders, in view of further improvement.Tuning-CALOHEE Project Team
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6.
  • Wagenaar, Kim P., et al. (författare)
  • Effectiveness of an interactive platform, and the ESC/HFA website in patients with heart failure: design of the multicentre randomized e-Vita heart failure trial
  • 2015
  • Ingår i: European Journal of Heart Failure. - : WILEY-BLACKWELL. - 1388-9842 .- 1879-0844. ; 17:12, s. 1310-1316
  • Tidskriftsartikel (refereegranskat)abstract
    • AimsElectronic health support (e-health) may improve self-care of patients with heart failure (HF). We aim to assess whether an adjusted care pathway with replacement of routine consultations by e-health improves self-care as compared with usual care. In addition, we will determine whether the ESC/HFA (European Society of Cardiology/Heart Failure Association) website (HFM website) improves self-care when added to usual care. Finally, we aim to evaluate the cost-effectiveness of these interventions. MethodsA three-arm parallel randomized trial will be conducted. Arm 1 consists of usual care; arm 2 consists of usual care plus the HFM website; and arm 3 is the adjusted care pathway with an interactive platform for disease management (e-Vita platform), with a link to the HFM website, which replaces routine consultations with HF nurses at the outpatient clinic. In total, 414 patients managed in 10 Dutch HF outpatient clinics or in general practice will be included and followed for 12 months. Participants are included if they have had an established diagnosis of HF for at least 3 months. The primary outcome is self-care as measured by the European Heart Failure Self-care Behaviour scale (EHFScB scale). Secondary outcomes are quality of life, cardiovascular- and HF-related mortality, hospitalization, and its duration as captured by hospital and general practitioner registries, use of and user satisfaction with the HFM website, and cost-effectiveness. PerspectiveThis study will provide important prospective data on the impact and cost-effectiveness of an interactive platform for disease management and the HFM website. Clinical Trial Registrationunique identifier: NCT01755988
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7.
  • Wagenaar, Kim P., et al. (författare)
  • Effectiveness of the European Society of Cardiology/Heart Failure Association website heartfailurematters.org and an e-health adjusted care pathway in patients with stable heart failure: results of the e-Vita HF randomized controlled trial
  • 2019
  • Ingår i: European Journal of Heart Failure. - : WILEY. - 1388-9842 .- 1879-0844. ; 21:2, s. 238-246
  • Tidskriftsartikel (refereegranskat)abstract
    • Background Efficient incorporation of e-health in patients with heart failure (HF) may enhance health care efficiency and patient empowerment. We aimed to assess the effect on self-care of (i) the European Society of Cardiology/Heart Failure Association website on top of usual care, and (ii) an e-health adjusted care pathway leaving out in person routine HF nurse consultations in stable HF patients. Methods and results In a three-group parallel-randomized trial in stable HF patients from nine Dutch outpatient clinics, we compared two interventions ( website and an e-health adjusted care pathway) to usual care. The primary outcome was self-care measured with the European Heart Failure Self-care Behaviour Scale. Secondary outcomes were health status, mortality, and hospitalizations. In total, 450 patients were included. The mean age was 66.8 +/- 11.0 years, 74.2% were male, and 78.8% classified themselves as New York Heart Association I or II at baseline. After 3 months of follow-up, the mean score on the self-care scale was significantly higher in the groups using the website and the adjusted care pathway compared to usual care (73.5 vs. 70.8, 95% confidence interval 0.6-6.2; and 78.2 vs. 70.8, 95% confidence interval 3.8- 9.4, respectively). The effect attenuated, until no differences after 1 year between the groups. Quality of life showed a similar pattern. Other secondary outcomes did not clearly differ between the groups. Conclusions Both the website and an e-health adjusted care pathway improved self-care in HF patients on the short term, but not on the long term. Continuous updating of e-health facilities could be helpful to sustain effects.
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8.
  • Wagenaar, Kim P., et al. (författare)
  • heartfailurematters.org, an educational website for patients and carers from the Heart Failure Association of the European Society of Cardiology: objectives, use and future directions
  • 2017
  • Ingår i: European Journal of Heart Failure. - : WILEY. - 1388-9842 .- 1879-0844. ; 19:11, s. 1447-1454
  • Tidskriftsartikel (refereegranskat)abstract
    • Aims In 2007, the Heart Failure Association of the European Society of Cardiology (ESC) launched the information website heartfailurematters.org (HFM site) with the aim of creating a practical tool through which to provide advice and guidelines for living with heart failure to patients, their carers, health care professionals and the general public worldwide. The website is managed by the ESC at the European Heart House and is currently available in nine languages. The aim of this study is to describe the background, objectives, use, lessons learned and future directions of the HFM site. Methods and results Data on the number of visitor sessions on the site as measured by Google Analytics were used to explore use of the HFM site from 2010 to 2015. Worldwide, the annual number of sessions increased from 416 345 in 2010 to 1 636 368 in 2015. Most users (72-75%) found the site by using a search engine. Desktops and, more recently, smartphones were used to visit the website, accounting for 50% and 38%, respectively, of visits to the site in 2015. Conclusions Although its use has increased, the HFM site has not yet reached its full potential: fewer than 2 million users have visited the website, whereas the number of people living with heart failure worldwide is estimated to be 23 million. Uptake and use could be further improved by a continuous process of qualitative assessment of users preferences, and the provision of professional helpdesk facilities, comprehensive information technology, and promotional support.
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9.
  • Wagenaar, Kim P., et al. (författare)
  • Interpretability of the European Heart Failure Self-care Behaviour scale
  • 2017
  • Ingår i: Patient Preference and Adherence. - : DOVE MEDICAL PRESS LTD. - 1177-889X. ; 11, s. 1841-1848
  • Tidskriftsartikel (refereegranskat)abstract
    • Objective: The European Heart Failure Self-care Behaviour scale (EHFScBs) is a valid patient-reported questionnaire to measure self-care behavior of heart failure (HF) patients. We assessed the interpretability of the EHFScBs. Methods: We used data of 1,023 HF patients. Interpretability refers to the clinical meaning of the score and its changes over time. We operationalized interpretability by evaluating distributions of EHFScBs scores across relevant HF subgroups by eyeballing, by testing the risk on hospitalizations and mortality of a plausible threshold, and by determining a clinically relevant minimal important change (MIC). The scale score ranged from 0 to 100, with a higher score meaning better self-care. A threshold of amp;gt;= 70 was defined as adequate and amp;lt; 70 as inadequate self-care. Results: The EHFScBs scores were similarly normally distributed among the subgroups with a mean between 57.8 (SD 19.4) and 72.0 (SD 18.0). The 464 HF patients with adequate self-care had significantly less all-cause hospitalizations than the 559 patients with inadequate self-care. Conclusion: The degree of self-care showed to be independent of relevant HF subgroups. A single threshold of 70 accurately discriminated between patients with adequate and inadequate self-care.
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