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1.

Introduction:

Additional nucleotide substitutions in the 3′-untranslated region of prothrombin gene could explain some thrombotic events and also adverse pregnancy outcomes. We describe the first case of a homozygous 20209C>T mutation as the cause of deep vein thrombosis in a Spanish patient.

Case and methods:

The 56-year-old male patient with a partial tear of the Achilles tendon developed calf (tibial) deep vein thrombosis after immobilization and was treated with an anticoagulant. To determine if the deep vein thrombosis was of genetic origin, a peripheral blood DNA sample was analysed for the presence of the three most frequent mutations associated with thrombotic events: factor V Leiden (1691G>A), prothrombin (20210G>A) and methylene tetrahydrofolate reductase (677C>T). The presence or absence of the normal allele of prothrombin could not be determined using the PTH-FV-MTHFR StripAssay (Vienna Lab).

Results:

Comprehensive analysis showed that the patient had a variant interfering with the polymerase chain reaction product, we sequenced the entire prothrombin gene and found that the patient had a homozygous C>T mutation at position 20209; this interfered with the polymerase chain reaction product, which needs a C at this position to be able to bind to the wild-type probe present in the test strip.

Conclusion:

The homozygous 20209C>T mutation and the presence of the mutation 677C>T in heterozygosity explained the patient’s deep vein thrombosis because the combination of mutations would increase the risk of thrombosis. Suitable genetic counselling should be provided to the patient and first-degree relatives as it important to detect prothrombin gene variants that could increase risk for thrombotic events.  相似文献   
2.
This article seeks to illustrate how a research study that claims to be inclusive should incorporate into its development, decisions of methodological flexibility that enable voice to be given to all participants regardless of their personal conditions. The changes carried out in the techniques, procedures or in the kind of questions used in the research, illustrate how young persons can be involved in the building of scientific and academic knowledge that is being generated about them. This work forms part of a more extensive line of inquiry that started a number of years ago by two Spanish universities (Cantabria and Seville).  相似文献   
3.
ABSTRACT

This article focuses on the deconstruction of an inter-university action research project that has allowed us to rethink our teaching and research, questioning the social, political and ethical dimensions of the university. Following the pre-assembly proposal to promote participatory convergence, organized within the framework of the 1st Global Assembly for Knowledge Democracy (2017), an action research process was implemented in order to generate systematic inquiry around the current situation of the university and the need to act and rethink our commitment to promoting changes in this context. We have reflected on the meaning of democratization, rethinking the pedagogical relationship with our students and how we critically commit them to promote activism. We generated an environment where we look for the meaning of our practices by means of a visual narrative which has enabled us to weave and identify our own biography and become aware of where we are and why we act in one way or another. We have also focused on the search for the meaning of our actions in relation to the community we belong to and how to deal with the challenges of social justice, encouraging collaboration with other networks in a wider inter-university framework.  相似文献   
4.
To be fully prepared for the professional workplace, Engineering students need to be able to effectively communicate. However, there has been a growing concern in the field about students’ preparedness for this aspect of their future work. It is argued that online writing tools, to engage numbers of students in the writing process, can support feedback on and development of writing in engineering on a larger scale. Through interviews and questionnaires, this study explores engineering academics’ perceptions of writing to better understand how online writing tools may be integrated into their teaching. Results suggest that writing is viewed positively in the discipline, but it is not believed to be essential to success in engineering. Online writing tools were believed to support a larger number of students, but low knowledge of the tools limited academics’ understanding of their usefulness in teaching and learning. Implications for innovation in undergraduate teaching are discussed.  相似文献   
5.
Objective:We sought to determine how many abstracts presented at the 2012 and 2014 Medical Library Association (MLA) annual conferences were later published as full-text journal articles and which features of the abstract and first author influence the likelihood of future publication. To do so, we replicated a previous study on MLA conference abstracts presented in 2002 and 2003. The secondary objective was to compare the publication rates between the prior and current study.Methods:Presentations and posters delivered at the 2012 and 2014 MLA meetings were coded to identify factors associated with publication. Postconference publication of abstracts as journal articles was determined using a literature search and survey sent to first authors. Chi-squared tests were used to assess differences in the publication rate, and logistic regression was used to assess the influence of abstract factors on publication.Results:The combined publication rate for the 2012 and 2014 meetings was 21.8% (137/628 abstracts), which is a statistically significant decrease compared to the previously reported rate for 2002 and 2003 (27.6%, 122/442 abstracts). The odds that an abstract would later be published as a journal article increased if the abstract was multi-institutional or if it was research, specifically surveys or mixed methods research.Conclusions:The lower publication rate of MLA conference abstracts may be due to an increased number of program or nonresearch abstracts that were accepted or a more competitive peer review process for journals. MLA could increase the publication rate by encouraging and enabling multi-institutional research projects among its members.  相似文献   
6.
Project work and work placements can help prepare tertiary food science students for the workplace. Programs in the curriculum should support the development of transferable skills such as communication, problem‐solving, and planning. This paper describes a case study of a new capstone project for Masters of Food Science students based on a work integrated learning model. Students were engaged to develop a HACCP plan for a cheesemaker. They interacted with a peer group, academics, and with professionals from the food industry. Two iterations of the project were completed. Staff and student feedback from the first iteration informed modifications in the subsequent iteration. Industry partners and an authentic work task were key components of the project. The model could apply to a broad range of programs that require a capstone project in the curriculum.  相似文献   
7.
Urgent societal challenges have led to unease in our socio‐cultural interactions and the production systems that underpin our lives. To confront such challenges, collaboration stands out as an essential approach in accomplishing joint goals and producing new knowledge. It calls for interdisciplinary methodologies such as co‐design, an approach capable of bridging multiple expertise. The core activities of co‐design are based on the premise of collaboration and on developing creative social environments. Yet achieving collaboration through co‐design is challenging as people need to understand each other, and develop trust and rapport. We argue that ‘informal‐mutual learning’ is central to building mutual understanding. This article explores how we create spaces for collaboration through co‐design by examining the social environments supporting them. It examines the value of collaboration and its impact upon participants within an action research project conducted in Scotland. We identified Cultural‐Historical Activity Theory (CHAT) as a suitable theoretical framework. It offers support for holistic inquiry into participation and learning. Its strength was in the attention that it pays to multi‐dimensional human interactions within the social environment. This led to an understanding of the concepts of boundary‐crossing and boundary space examined through a CHAT lens. The findings shed light on four designerly conditions supporting informal‐mutual learning when engaged in collaboration during co‐design situations: choreography and orchestration, aesthetics, playfulness, and quality and quantity of participation. The findings enable us to elaborate on the theorisation of boundary space, a theoretical space for the assemblage of multiple levels of expertise to achieve collaboration.  相似文献   
8.
Currently, libraries and other information services are facing new professional challenges in relation to digitization policies and orphan works after the publication of European Directive 2012/28/EU on certain permitted uses of orphan works and Spanish Royal Decree 224/2016. This paper aims to analyse how Spanish library and information centres specialising in theatre and performing arts meet users' textual and non-textual information needs, by respecting copyright issues and being involved in a dynamic and digital environment. For this purpose, an online questionnaire, which was used as a methodological tool, was sent to library directors in February 2018. At the same time, some research questions based on orphan works and digitisation approaches are discussed in the paper, specifically in reference to graphic and audiovisual materials.  相似文献   
9.
The dramatic eruption of information and communication technology has had a remarkable effect on modern life, including the capacity to help older adults improve their quality of life and remain independent longer. However, while technology use is generally widespread, there is an observable underutilization by older people. There is sound evidence that older adults can learn and acquire computer skills just like younger people do, although they might need more time to reach a similar level of mastery. Concept maps (CMs) are considered to be an efficient creativity tool, as they allow the user’s view to be drawn over any domain or issue. An experiment was conducted with older adults using CM-ED (a concept map editor). The experiment had a twofold objective. The first objective was to measure how certain characteristics of the participants (gender, age, background) affect both their performance with such a tool and the quality of the CMs they developed. The second objective was to determine whether CM-ED is suitable for older people.  相似文献   
10.
This paper reports research into the student experience of learning through discussions in a blended environment. Third year engineering students studying e‐commerce engaged in both face‐to‐face discussions and online asynchronous discussions as key aspects of their learning experience. Adopting a quantitative methodology, questionnaires were completed by students at the end of their learning experience. The results suggest qualitatively different experiences of learning through discussions. The results show that students who have a deep understanding of how the discussions are related to their learning outcomes tend to approach the discussions in more meaningful ways. In the face‐to‐face context, their approach emphasizes learning through the experience of others and, in the online environment, their approach emphasizes reflecting on the problems discussed from a variety of perspectives.

Formation par discussions dans des environnements intégrés. Une étude a été menée sur les expériences d’étudiants avec la formation par discussions dans un environnement intégré. Des étudiants d’ingénierie de troisième année ont engagé des discussions personnelles et des discussions en ligne différés lors de leurs études de commerce en ligne représentant les aspects clés pour leur expérience de formation. En adoptant une méthode quantitative, des questionnaires ont été remplis par des étudiants à la fin de leur expérience de formation. Les résultats suggèrent des expériences de formation qualitativement différentes par discussions. Les résultats montrent que les étudiants qui ont une grande connaissance sur le fait que les discussions influent sur leur issue de formation, tendent à aborder les discussions de manière plus significative. Dans un contexte personnel, cette évaluation met l’accent sur la formation par l’expérience d’autres, et dans l’environnement en ligne, elle met l’accent sur la réflexion des problèmes discutés avec une variété de perspectives.

Lernen durch Diskussionen in integrierten Lernumfeldern. Diese Studie berichtet über die Erfahrungen von Studenten beim Lernen durch Diskussionen innerhalb eines integrierten Lernumfelds. Studenten des Ingenieurwesens im dritten Studienjahr befassten sich während ihres e‐Commerce Studiums sowohl mit persönlichen Diskussionen als auch mit zeitlich versetzt geführten Online‐Diskussionen, die Schlüsselaspekte für ihre Lernerfahrungen darstellten. Mit einer quantitativen Methode wurden am Ende der Lernerfahrung durch die Studenten Fragebögen ausgefüllt. Die Ergebnisse zeigen qualitativ unterschiedliche Lernerfahrungen durch Diskussionen auf. Sie belegen, dass Studenten, die gute Kenntnisse darüber haben, wie Diskussionen ihren Lernerfolg beeinflussen, bedeutend mehr dazu tendieren, an Diskussionen teilzunehmen. Dieser Ansatz beweist, dass in persönlichen Diskussionen der Lernerfolg durch die Erfahrung anderer erreicht wird, wohingegen bei einer Problemdiskussion innerhalb eines Online‐Umfelds der Schwerpunkt auf die Vielfältigkeit der Betrachtungsweisen aus verschiedenen Blickwinkeln gelegt wird. Dieser Ansatz hebt im persönlichen Kontext das Lernen durch die Erfahrung anderer und in der Online‐Umgebung die Betrachtung über die aus vielen Blickwinkeln diskutierten Probleme hervor.  相似文献   
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