Fine mapping of variants associated with endometriosis in the WNT4 region on chromosome 1p36

Genome-wide association studies show strong evidence of association with endometriosis for markers on chromosome 1p36 spanning the potential candidate genes WNT4, CDC42 and LINC00339. WNT4 is involved in development of the uterus, and the expression of CDC42 and LINC00339 are altered in women with endometriosis. We conducted fine mapping to examine the role of coding variants in WNT4 and CDC42 and determine the key SNPs with strongest evidence of association in this region. We identified rare coding variants in WNT4 and CDC42 present only in endometriosis cases. The frequencies were low and cannot account for the common signal associated with increased risk of endometriosis. Genotypes for five common SNPs in the region of chromosome 1p36 show stronger association signals when compared with rs7521902 reported in published genome scans. Of these, three SNPs rs12404660, rs3820282, and rs55938609 were located in DNA sequences with potential functional roles including overlap with transcription factor binding sites for FOXA1, FOXA2, ESR1, and ESR2. Functional studies will be required to identify the gene or genes implicated in endometriosis risk.

High-density fine-mapping of a chromosome 10q26 linkage peak suggests association between endometriosis and variants close to CYP2C19

OBJECTIVE To refine a previously reported linkage peak for endometriosis on chromosome 10q26, and conduct follow-up analyses and a fine-mapping association study across the region to identify new candidate genes for endometriosis. DESIGN Case-control study. SETTING Academic research. PATIENT(S) Cases=3,223 women with surgically confirmed endometriosis; controls=1,190 women without endometriosis and 7,060 population samples. INTERVENTION(S) Analysis of 11,984 single nucleotide polymorphisms on chromosome 10. MAIN OUTCOME MEASURE(S) Allele frequency differences between cases and controls. RESULT(S) Linkage analyses on families grouped by endometriosis symptoms (primarily subfertility) provided increased evidence for linkage (logarithm of odds score=3.62) near a previously reported linkage peak. Three independent association signals were found at 96.59 Mb (rs11592737), 105.63 Mb (rs1253130), and 124.25 Mb (rs2250804). Analyses including only samples from linkage families supported the association at all three regions. However, only rs11592737 in the cytochrome P450 subfamily C (CYP2C19) gene was replicated in an independent sample of 2,079 cases and 7,060 population controls. CONCLUSION(S) The role of the CYP2C19 gene in conferring risk for endometriosis warrants further investigation.

Association mapping

Association mapping seeks to identify marker alleles present at significantly different frequencies in cases carrying a particular disease or trait compared with controls. Genome-wide association studies are increasingly replacing candidate gene-based association studies for complex diseases, where a number of loci are likely to contribute to disease risk and the effect size of each particular risk allele is typically modest or low. Good study design is essential to the success of an association study, and factors such as the heritability of the disease under investigation, the choice of controls, statistical power, multiple testing and whether the association can be replicated need to be considered before beginning. Likewise, thorough quality control of the genotype data needs to be undertaken prior to running any association analyses. Finally, it should be kept in mind that a significant genetic association is not proof positive that a particular genetic locus causes a disease, but rather an important first step in discovering the genetic variants underlying a complex disease.

Digital access to knowledge in the preschool classroom: Reports from Australia

Australian preschool teachers’ use of Web-searching in their classroom practice was examined (N = 131). Availability of Internet-enabled digital technology and the contribution of teacher demographic characteristics, comfort with digital technologies and beliefs about their use were assessed. Internet-enabled technologies were available in 53% (n = 69) of classrooms. Within these classrooms, teacher age and beliefs predicted Web-searching practice. Although comfortable with digital access of knowledge in their everyday life, teachers reported less comfort with Web-searching in the context of their classroom practice. The findings identify the provision of Internet-enabled technologies and professional development as actions to support effective and confident inclusion of Web-searching in classrooms. Such actions are necessary to align with national policy documents that define acquisition of digital literacies as a goal and assert digital access to knowledge as an issue of equity.

Seamless journeys : enhancing accessibility to work through digital technologies for people with mobility-related impairments

Numerous disruptions and barriers are encountered by persons with mobility-related disabilities in their daily’s experience of going to work and the pressure these exert on gaining and maintaining their employment. The nature and extent of their difficulties to workforce participation entails a requirement for extensive planning and also strategies to address problems of being stranded (for example, when the bus they are waiting for is not accessible). This paper presents the conceptualisation and methods of understanding workforce participation as a journey, and a discussion on the role digital technologies play in helping people with mobility-related disabilities in their journeys to work and mitigating disruptions when these occur. This is presented through an initial case study that helped identify the sequence of supports needed to be in place to make the work journey possible. Importantly, the paper also highlights points of intervention for the use of digital technologies and where design can potentially help to enhance accessibility to work for people with mobility-related impairments by making journeys to work seamless.

Who am I? Developing pre-service teacher identity in a digital world

The notions of identity and teacher education have attracted considerable research over the years, revealing a strong correlation between teacher beliefs and practices and the resultant impact on pedagogical practices in the classroom. In an era where the use of digital technologies should be synonymous with teacher pedagogical practices and transforming education, there is a growing need for pre-service teachers to develop an identity that resonates with pedagogical practices that engage and connect with students in a positive and productive way. With many educational institutions also mandating that educators use digital technologies as a tool to support and enhance teaching, pre-service teacher education needs to ensure that students understand and develop a positive identity within this digital world. Current literature acknowledges that many educators adopt digital technologies in the classroom without sometimes fully understanding its scope or impact. It is within this context that this paper reports on a three-year study of first year pre-service education students and their understanding of identity in a digital world. More specifically, the study identifies how students currently use social and digital media in their personal and professional lives to identify themselves online in order to promote a positive image. The study also seeks to identify how these technologies and an understanding of identity can be utilised to promote a positive first year experience.

Deeply superficial digital media engagement? The case of Twitter and Movember 2013

Using activity generated with Twitter during Movember 2013, we interrogate the natures of superficiality running through what can be defined as a highly successful public health engagement intervention. Indeed, Movember arguably has not just been successful in one year in terms of raising funds for the causes it is concerned with, it has done this year-on-year since 2004. We tracked the keyword 'movember' (without the hash symbol) using an in-house installation of YourTwapperkeeper hosted on a NECTAR server. Data collection ran from 01 October - 04 December 2013, covering the ramp-up and wind-down periods of the event. We collected a total of 1,313,426 tweets from 759,345 unique users.

Making the most of spatial information in health: A tutorial in Bayesian disease mapping for areal data

Disease maps are effective tools for explaining and predicting patterns of disease outcomes across geographical space, identifying areas of potentially elevated risk, and formulating and validating aetiological hypotheses for a disease. Bayesian models have become a standard approach to disease mapping in recent decades. This article aims to provide a basic understanding of the key concepts involved in Bayesian disease mapping methods for areal data. It is anticipated that this will help in interpretation of published maps, and provide a useful starting point for anyone interested in running disease mapping methods for areal data. The article provides detailed motivation and descriptions on disease mapping methods by explaining the concepts, defining the technical terms, and illustrating the utility of disease mapping for epidemiological research by demonstrating various ways of visualising model outputs using a case study. The target audience includes spatial scientists in health and other fields, policy or decision makers, health geographers, spatial analysts, public health professionals, and epidemiologists.

Using relationship mapping to understand sustainable housing stakeholders’ actions

The production of sustainable housing requires the cooperation of a variety of participants with different goals, needs, levels of commitment and cultures. To achieve mainstream net zero energy housing objectives, there is arguably a need for a non-linear network of collaboration between all the stakeholders. In order to create and improve such collaborative networks between stakeholders, we first need to map stakeholders’ relationships, processes, and practices. This paper discusses compares and contrasts maps of the sustainable housing production life-cycle in Australia, developed from different perspectives. The paper highlights the strengths and weaknesses of each visualization, clarifying where gaps in connectivity exist within existing industry networks. Understanding these gaps will help researchers and practitioners identify how to improve the collaboration between participants in the housing industry. This in turn may improve decision making across all stakeholder groups, leading to mainstream implementation of sustainability into the housing industry.

Digital revolution or digital divide: Will rural teachers get a piece of the professional development pie?

In order to sustain the rural education community, access to high quality professional development opportunities must become a priority. Teachers in rural areas face many challenges in order to access professional learning equitable to their city counterparts. In the current climate, the Federal government of Australia is committed to initiatives that support the use of ICT in education. These include initiatives such as the Digital Education Revolution, including the National Broadband Network. This "revolution" includes the committal of $2.2 billion funding over six years from 2008 - 2013 which purports to bring substantial and meaningful change to teaching and learning in Australian schools. Of this funding, the Prime Minister (former Minister for Education), Julia Gillard, has committed $40 million of the total budget to ICT related professional development for teachers. But how will rural teachers ensure they get a piece of the PD pie? Access to professional learning is critical and isolation from colleagues, professional associations and support structures can affect the retention of teachers and in turn affect the sustainability of rural communities. This research paper describes the findings of the first phase of a study that investigates access to professional learning from rural and remote areas of Western Australia, the efficiencies of this approach including teacher perceptions and possible opportunities for improvement through the application of technologies. A survey instrument was administered and the results from104 principals and teachers within the Remote Teaching Service and the Country Teaching Program of the Department of Education and Training (WA) are discussed. Qualitative data was collected by semi-structured interviews and emailed questionnaires. Phase One findings highlight the principals and teachers? perceptions of their access to professional development opportunities, professional learning communities and their use of information and communication technologies (ICT) to bridge the gap

Digital videos in financial accounting: A sociocognitive approach to learning

Understanding the important concepts necessary to undertake the preparation of consolidated financial statements has proven challenging for many accounting undergraduate students. As a result, the development of multimedia modelling concepts such as acquisition analysis, business combination valuation entries, reacquisition entries and intragroup transactions were embedded within an e-learning environment. The principle of modelling, derived from social cognitive theory, was applied to the design of the multimedia. A study was conducted to gauge the effectiveness of the approach and consider student perceptions with regard to learning through this approach. Quantitative data were collected from accounting undergraduate students (n= 464) enrolled across three different cohorts including international campuses (n=386), an Australian campus (n=49) and a distance education cohort (n=29). Analyses were undertaken to show significant differences between these cohorts. This research paper presents findings that indicate a positive and significant association between the number of times the videos were accessed, and the assignment score (p<0.05) was evident, suggesting that students that referred to the videos relatively frequently were able to utilise the knowledge gained from the videos to assist them in completing the assignment.

Learning style and digital activity: An ecological study

In order to understand student engagement in higher education through the use of digital technologies, it is necessary to appreciate the broader use of differing technologies. Forty-eight first-year university students completed an online survey that queried patterns of digital activity across home, school and community contexts and that included rating scale items that measured learning style (i.e., active-reflective, sensing-intuitive, visual-verbal, sequential-global). Results suggest that students vary widely in digital activities and that such variation is related to differences in learning style. For example, active learners were more likely than reflective learners to engage in digital activities in the community and users of some specific application, as opposed to non-users, were more likely to be verbal than visual learners. Implications for instructional applications of digital technology in higher education are presented.

Using Web2.0 applications to close the digital divide in Western Australia

The research reported in this paper documents the use of Web2.0 applications with six Western Australian schools that are considered to be regional and/or remote. With a population of two million people within an area of 2,525,500 square kilometres Western Australia has a number of towns that are classified as regional and remote. Each of the three education systems have set up telecommunications networks to improve learning opportunities for students and administrative services for staff through a virtual private network (VPN) with access from anywhere, anytime and ultimately reduce the feeling of professional and social dislocation experienced by many teachers and students in the isolated communities. By using Web2.0 applications including video conferencing there are enormous opportunities to close the digital divide within the broad directives of the Networking the Nation plan. The Networking the Nation plan aims to connect all Australians regardless of where they are hence closing the digital divide between city and regional living. Email and Internet facilities have greatly improved in rural, regional and remote areas supporting every day school use of the Internet. This study highlights the possibilities and issues for advanced telecommunications usage of Web2.0 applications discussing the research undertaken with these schools. (Contains 1 figure and 3 tables.)

headspace Digital Art Exhibition

headspace Digital Art Exhibition is a curated collection of artwork created during a youth arts project and research in which young people’s improved mental health wellbeing and mental health literacy were the focused outcomes for the project. The project aimed to improve mental health literacy, and offer greater opportunities for creative expression supporting young people facing mental health challenges. The Inside project aimed to build dialogue related to youth, arts, mental illness and recovery, through a partnership approach. The partnership approach involved artists and health workers in two separate headspace youth mental health services and aimed to provide opportunities to explore the potential of an arts and health framework. The project ran over ten weeks at both centres, incorporating themed activities such as unleashing inner selfie (sketching, photography and digital manipulation); creating dioramas (found object, three dimensional modelling); creating avatars (sculptural and digital animation); and digital narrating and poster creation (visual, written and spoken texts). Two professional artists facilitated the project, one in each location alongside headspace health workers at weekly workshops. A research component explored the appreciation of how artsbased workshops can be used alongside more traditional responses in youth specific mental health services. Both headspace centres had previously provided unstructured art activities as a way to showcase their services to young people, increase access, and to create a welcoming ‘safe’ youth friendly environment. However, these activities were generally extemporaneous and not specifically evaluated. The digital art exhibition collectively shares the artwork created by the young people and reveals the inter-relationships between risk and resilience and overcoming the odds. Inside unleashed possibilities for a sense of well-being and even happiness into the future.