987 resultados para Case-parent trios


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A protein-truncating variant of CHEK2, 1100delC, is associated with a moderate increase in breast cancer risk. We have determined the prevalence of this allele in index cases from 300 Australian multiple-case breast cancer families, 95% of which had been found to be negative for mutations in BRCA1 and BRCA2. Only two (0.6%) index cases heterozygous for the CHEK2 mutation were identified. All available relatives in these two families were genotyped, but there was no evidence of co-segregation between the CHEK2 variant and breast cancer. Lymphoblastoid cell lines established from a heterozygous carrier contained approximately 20% of the CHEK2 1100delC mRNA relative to wild-type CHEK2 transcript. However, no truncated CHK2 protein was detectable. Analyses of expression and phosphorylation of wild-type CHK2 suggest that the variant is likely to act by haploinsufficiency. Analysis of CDC25A degradation, a downstream target of CHK2, suggests that some compensation occurs to allow normal degradation of CDC25A. Such compensation of the 1100delC defect in CHEK2 might explain the rather low breast cancer risk associated with the CHEK2 variant, compared to that associated with truncating mutations in BRCA1 or BRCA2.

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The emergence of ePortfolios is relatively recent in the university sector as a way to engage students in their learning and assessment, and to produce records of their accomplishments. An ePortfolio is an online tool that students can utilise to record, catalogue, retrieve and present reflections and artefacts that support and demonstrate the development of graduate students’ capabilities and professional standards across university courses. The ePortfolio is therefore considered as both process and product. Although ePortfolios show promise as a useful tool and their uptake has grown, they are not yet a mainstream higher education technology. To date, the emphasis has been on investigating their potential to support the multiple purposes of learning, assessment and employability, but less is known about whether and how students engage with ePortfolios in the university setting. This thesis investigates student engagement with an ePortfolio in one university. As the educational designer for the ePortfolio project at the University, I was uniquely positioned as a researching professional to undertake an inquiry into whether students were engaging with the ePortfolio. The participants in this study were a cohort (defined by enrolment in a unit of study) of second and third year education students (n=105) enrolled in a four year Bachelor of Education degree. The students were introduced to the ePortfolio in an introductory lecture and a hands-on workshop in a computer laboratory. They were subsequently required to complete a compulsory assessment task – a critical reflection - using the ePortfolio. Following that, engagement with the ePortfolio was voluntary. A single case study approach arising from an interpretivist paradigm directed the methodological approach and research design for this study. The study investigated the participants’ own accounts of their experiences with the ePortfolio, including how and when they engaged with the ePortfolio and the factors that impacted on their engagement. Data collection methods consisted of an attitude survey, student interviews, document collection, a researcher reflective journal and researcher observations. The findings of the study show that, while the students were encouraged to use the ePortfolio as a learning and employability tool, most students ultimately chose to disengage after completing the assessment task. Only six of the forty-five students (13%) who completed the research survey had used the ePortfolio in a sustained manner. The data obtained from the students during this research has provided insight into reasons why they disengaged from the ePortfolio. The findings add to the understandings and descriptions of student engagement with technology, and more broadly, advance the understanding of ePortfolios. These findings also contribute to the interdisciplinary field of technology implementation. There are three key outcomes from this study, a model of student engagement with technology, a set of criteria for the design of an ePortfolio, and a set of recommendations for effective practice for those implementing ePortfolios. The first, the Model of Student Engagement with Technology (MSET) (Version 2) explored student engagement with technology by highlighting key engagement decision points for students The model was initially conceptualised by building on work of previous research (Version 1), however, following data analysis a new model emerged, MSET (Version 2). The engagement decision points were identified as: • Prior Knowledge and Experience, leading to imagined usefulness and imagined ease of use; • Initial Supported Engagement, leading to supported experience of usefulness and supported ease of use; • Initial Independent Engagement, leading to actual experience of independent usefulness and actual ease of use; and • Ongoing Independent Engagement, leading to ongoing experience of usefulness and ongoing ease of use. The Model of Student Engagement with Technology (MSET) goes beyond numerical figures of usage to demonstrate student engagement with an ePortfolio. The explanatory power of the model is based on the identification of the types of decisions that students make and when they make them during the engagement process. This model presents a greater depth of understanding student engagement than was previously available and has implications for the direction and timing of future implementation, and academic and student development activities. The second key outcome from this study is a set of criteria for the re-conceptualisation of the University ePortfolio. The knowledge gained from this research has resulted in a new set of design criteria that focus on the student actions of writing reflections and adding artefacts. The process of using the ePortfolio is reconceptualised in terms of privileging student learning over administrative compliance. The focus of the ePortfolio is that the writing of critical reflections is the key function, not the selection of capabilities. The third key outcome from this research consists of five recommendations for university practice that have arisen from this study. They are that, sustainable implementation is more often achieved through small steps building on one another; that a clear definition of the purpose of an ePortfolio is crucial for students and staff; that ePortfolio pedagogy should be the driving force not the technology; that the merit of the ePortfolio is fostered in students and staff; and finally, that supporting delayed task performance is crucial. Students do not adopt an ePortfolio just because it is provided. While students must accept responsibility for their own engagement with the ePortfolio, the institution has to accept responsibility for providing the environment, and technical and pedagogical support to foster engagement. Ultimately, an ePortfolio should be considered as a joint venture between student and institution where strong returns on investment can be realised by both. It is acknowledged that the current implementation strategies for the ePortfolio are just the beginning of a much longer process. The real rewards for students, academics and the university lie in the future.

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In this paper we consider the place of early childhood literacy in the discursive construction of the identity( ies) of ‘proper’ parents. Our analysis crosses between representations of parenting in texts produced by commercial and government/public institutional interests and the self-representations of individual parents in interviews with the researchers. The argument is made that there are commonalities and disjunctures in represented and lived parenting identities as they relate to early literacy. In commercial texts that advertise educational and other products, parents are largely absent from representations and the parent’s position is one of consumer on behalf of the child. In government-sanctioned texts, parents are very much present and are positioned as both learners about and important facilitators of early learning when they ‘interact’ with their children around language and books. The problem for which both, in their different ways, offer a solution is the ‘‘not-yet-ready’’ child precipitated into the evaluative environment of school without the initial competence seen as necessary to avoid falling behind right from the start. Both kinds of producers promise a smooth induction of children into mainstream literacy and learning practices if the ‘good parent’ plays her/his part. Finally, we use two parent cases to illustrate how parents’ lived practice involves multiple discursive practices and identities as they manage young children’s literacy and learning in family contexts in which they also need to negotiate relations with their partners and with paid and domestic work.

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This paper outlines how the project agreement operating on the Australian National Museum project in Canberra, Australia facilitated a responsible and responsive workplace environment for construction workers. A project alliancing approach was adopted and designed to encourage industrial relations innovation in the workplace. The trigger for this approach was the perceived success of the alliancing working arrangements between key project delivery teams and a desire to extend this arrangement to subcontractors, suppliers and the workforce. Changes in the Australian workplace relations environment and introduction of a national code of practice for the Australian construction industry provided impetus for reaching a new type of workplace agreement. The workplace culture and characteristics of relationships formed between workers and management on that site shaped the agreed terms and conditions of work. It also spurred the pursuit of innovative approaches to project delivery from a technology, management and workplace culture perspective.

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Significant differences between project partnering and project alliancing occur in the selection process, management structure of the organisations undertaking the project and nature of risk and reward incentives. This paper helps clarify the nature of project alliancing and how alliance member organisations were selected for this case study. A core issue that differentiates between the two approaches is that in partnering, partners may reap rewards at the expense of other partners. In alliancing each alliance member places their profit margin and reward structure ÁÁat riskÂÂ. Thus in alliancing, the entire alliance entity either benefits together or not all. This fundamentally changes the motivation and dynamics of the relationship between alliance members.

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The pervasiveness of technology in the 21st Century has meant that adults and children live in a society where digital devices are integral to their everyday lives and participation in society. How we communicate, learn, work, entertain ourselves, and even shop is influenced by technology. Therefore, before children begin school they are potentially exposed to a range of learning opportunities mediated by digital devices. These devices include microwaves, mobile phones, computers, and console games such as Playstations® and iPods®. In Queensland preparatory classrooms and in the homes of these children, teachers and parents support and scaffold young children’s experiences, providing them with access to a range of tools that promote learning and provide entertainment. This paper examines teachers’ and parents’ perspectives and considers whether they are techno-optimists who advocate for and promote the inclusion of digital technology, or whether they are they techno-pessimists, who prefer to exclude digital devices from young children’s everyday experiences. An exploratory, single case study design was utilised to gather data from three teachers and ten parents of children in the preparatory year. Teacher data was collected through interviews and email correspondence. Parent data was collected from questionnaires and focus groups. All parents who responded to the research invitation were mothers. The results of data analysis identified a misalignment among adults’ perspectives. Teachers were identified as techno-optimists and parents were identified as techno-pessimists with further emergent themes particular to each category being established. This is concerning because both teachers and mothers influence young children’s experiences and numeracy knowledge, thus, a shared understanding and a common commitment to supporting young children’s use of technology would be beneficial. Further research must investigate fathers’ perspectives of digital devices and the beneficial and detrimental roles that a range of digital devices, tools, and entertainment gadgets play in 21st Century children’s lives.

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The Blair Witch Project was a low budget movie made by student filmmakers that become an international box office hit in 1999. Blair Witch was a landmark in movie marketing and distribution because it was the first time that any movie had successfully leveraged the Internet as a marketing platform to reach a wide audience. The marketing team employed a range of innovative strategies and tactics to stimulate audience demand. This case study describes and analyses the success of the marketing launch of The Blair Witch Project.It also provides an Instructors booklet comprising seven questions and answers related to the marketing success of the movie.

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Full militaristic intervention cannot be justified on the grounds that this is a ‘just war’. We are then left with the option to intervene militarily in a smaller way or not to intervene militarily at all.

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Fourteen sase studies extracted from the final project report - December 2009 Australian Flexible Learning Framework: E-portfolios Community of Practice (Aus) Personal learning plans and ePortfolio (Aus) RMIT University: Introducing ePortfolios (Aus) ePortfolio Practice: ALTC Exchange (Aus) Australian PebblePad User Group (APpUG) (Aus) ePortfolios in the library and information services sector (Aus) PDP and ePortfolios UK (UK) SURF NL Portfolio (Netherlands) University of Canterbury ePortfolio (NZ) AAEEBL: Association for Authentic, Experiential and Evidence-Based Learning (USA) Midlands Eportfolio Group, West Midlands(UK) EPAC: Electronic Portfolio Action and Communication (USA) Scottish Higher Education PDP Forum (UK) Centre for Recording Achievement (CRA)(UK)

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Workplace wellness initiatives are currently unreflective of the multidimensional and holistic nature of the wellness construct. There exists an opportunity for promoters of health to move toward models of workplace wellness promotion that more fully appreciate the interconnected nature of health dimensions and promote them even-handedly. The Blue Care Staff Wellness Program framework was developed in response to a recognised need for consistent and wellness-focused constructs for workplace wellness promotion and dissemination. The framework promotes and supports the individual and organisational wellness of the Blue Care employee population by providing a comprehensive and sustainable employee wellness program. This has been achieved by the adoption of consistent wellness principles to guide the framework conception and theory based development. The use of the framework in a pilot program will provide insight into the frameworks effectiveness in promoting a comprehensive workplace wellness program, and go further to establish the relationship between wellness and productivity in the workplace.

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This paper reports on a unique approach to inclusive practice that responds to several critical issues highlighted in the first Universal Design (UD) Conference in Yokohama as well as in more recent literature on universal design. The approach, as explained in the paper, involves a not-for-profit community organization, university researchers, and a design action group comprising practitioners from across the design disciplines, together with other specialist consultants, developing a voluntary capacity an independent housing model for people with disabilities and their families or caretakers. With a focus on relationships and "a system that places human beings at the centre in all respects", this paper presents the approach and the ermerging theoretical framework which addresses three issues that afacan and Erbug (2009) propose hinder the integration of universal design with design practice, namely: theory-practice inconsistency involving the lack of flow-on of universal design awareness into design practice; a way of thinking that exhibits very little empathy with and understanding of the requirements of diverse users; and poorly implemented and coordinated collaboration and communication involving designers and other professionals (pp. 731 - 732).

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This case study analyzes a firm's technology strategy for its fit or match with the requirements of the industry environment in which it operates. Understanding the relationships between market characteristics and technology strategies can assist managers in making complex and difficult decisions regarding their use of technology to improve competitive performance. Using the technology strategy framework, managers can map their own capabilities for comparison with the more appropriate or superior approach to technology in that industry environment. Alternatively, firms seeking to transition from one industry niche or environment to another could identify and move to acquire the required capabilities. The dynamics of industry competition, both domestic and international, emphasize the need for improved management of the strategic fit between technical capabilities and industry environment.

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When managers of entrepreneurial companies typically talk about strategies, they first consider what products to make and secondly where to locate the business. The entrepreneurial companies locate in rural areas because of a wish to maintain a certain lifestyle, or because they can combine a resource available there with certain knowledge or interest that they have (Getz and Nilsson, 2004). In addition, many managers of entrepreneurial companies are confident in locating in a rural area, because there often is economic and social structure supportive of local corporate governance. The most central part of corporate governance is the board of directors. In an entrepreneurial company in a rural area, such members of boards are most likely to be individuals in dominant positions influential in the local economy.