Unique X-linked familial FSGS with co-segregating heart block disorder is associated with a mutation in the NXF5 gene

Focal segmental glomerulosclerosis (FSGS) is the consequence of a disease process that attacks the kidney's filtering system, causing serious scarring. More than half of FSGS patients develop chronic kidney failure within 10 years, ultimately requiring dialysis or renal transplantation. There are currently several genes known to cause the hereditary forms of FSGS (ACTN4, TRPC6, CD2AP, INF2, MYO1E and NPHS2). This study involves a large, unique, multigenerational Australian pedigree in which FSGS co-segregates with progressive heart block with apparent X-linked recessive inheritance. Through a classical combined approach of linkage and haplotype analysis, we identified a 21.19 cM interval implicated on the X chromosome. We then used a whole exome sequencing approach to identify two mutated genes, NXF5 and ALG13, which are located within this linkage interval. The two mutations NXF5-R113W and ALG13-T141L segregated perfectly with the disease phenotype in the pedigree and were not found in a large healthy control cohort. Analysis using bioinformatics tools predicted the R113W mutation in the NXF5 gene to be deleterious and cellular studies support a role in the stability and localization of the protein suggesting a causative role of this mutation in these co-morbid disorders. Further studies are now required to determine the functional consequence of these novel mutations to development of FSGS and heart block in this pedigree and to determine whether these mutations have implications for more common forms of these diseases in the general population.

Marker gene elimination from transgenic barley, using co-transformation with adjacent 'twin T-DNAs' on a standard Agrobacterium transformation vector

We have tested a methodology for the elimination of the selectable marker gene after Agrobacterium-mediated transformation of barley. This involves segregation of the selectable marker gene away from the gene of interest following co-transformation using a plasmid carrying two T-DNAs, which were located adjacent to each other with no intervening region. A standard binary transformation vector was modified by insertion of a small section composed of an additional left and right T-DNA border, so that the selectable marker gene and the site for insertion of the gene of interest (GOI) were each flanked by a left and right border. Using this vector three different GOIs were transformed into barley. Analysis of transgene inheritance was facilitated by a novel and rapid assay utilizing PCR amplification from macerated leaf tissue. Co-insertion was observed in two thirds of transformants, and among these approximately one quarter had transgene inserts which segregated in the next generation to yield selectable marker-free transgenic plants. Insertion of non-T-DNA plasmid sequences was observed in only one of fourteen SMF lines tested. This technique thus provides a workable system for generating transgenic barley free from selectable marker genes, thereby obviating public concerns regarding proliferation of these genes.

Effect of doping with Co and/or Cu on electronic structure and optical properties of ZnO

This paper reports on ab initio numerical simulations of the effect of Co and Cu dopings on the electronic structure and optical properties of ZnO, pursued to develop diluted magnetic semiconductors vitally needed for spintronic applications. The simulations are based upon the Perdew-Burke-Enzerh generalized gradient approximation on the density functional theory. It is revealed that the electrons with energies close to the Fermi level effectively transfer only between Cu and Co ions which substitute Zn atoms, and are located in the neighbor sites connected by an O ion. The simulation results are consistent with the experimental observations that addition of Cu helps achieve stable ferromagnetism of Co-doped ZnO. It is shown that simultaneous insertion of Co and Cu atoms leads to smaller energy band gap, redshift of the optical absorption edge, as well as significant changes in the reflectivity, dielectric function, refractive index, and electron energy loss function of ZnO as compared to the doping with either Co or Cu atoms. These highly unusual optical properties are explained in terms of the computed electronic structure and are promising for the development of the next-generation room-temperature ferromagnetic semiconductors for future spintronic devices on the existing semiconductor micromanufacturing platform.

The ethics, aesthetics and practical politics of ownership in co-creative media

What is ‘best practice’ when it comes to managing intellectual property rights in participatory media content? As commercial media and entertainment business models have increasingly come to rely upon the networked productivity of end-users (Banks and Humphreys 2008) this question has been framed as a problem of creative labour made all the more precarious by changing employment patterns and work cultures of knowledge-intensive societies and globalising economies (Banks, Gill and Taylor 2014). This paper considers how the problems of ownership are addressed in non-commercial, community-based arts and media contexts. Problems of labour are also manifest in these contexts (for example, reliance on volunteer labour and uncertain economic reward for creative excellence). Nonetheless, managing intellectual property rights in collaborative creative works that are created in community media and arts contexts is no less challenging or complex than in commercial contexts. This paper takes as its focus a particular participatory media practice known as ‘digital storytelling’. The digital storytelling method, formalised by the Centre for Digital Storytelling (CDS) from the mid-1990s, has been internationally adopted and adapted for use in an open-ended variety of community arts, education, health and allied services settings (Hartley and McWilliam 2009; Lambert 2013; Lundby 2008; Thumin 2012). It provides a useful point of departure for thinking about a range of collaborative media production practices that seek to address participation ‘gaps’ (Jenkins 2006). However the outputs of these activities, including digital stories, cannot be fully understood or accurately described as user-generated content. For this reason, digital storytelling is taken here to belong to a category of participatory media activity that has been described as ‘co-creative’ media (Spurgeon 2013) in order to improve understanding of the conditions of mediated and mediatized participation (Couldry 2008). This paper reports on a survey of the actual copyrighting practices of cultural institutions and community-based media arts practitioners that work with digital storytelling and similar participatory content creation methods. This survey finds that although there is a preference for Creative Commons licensing a great variety of approaches are taken to managing intellectual property rights in co-creative media. These range from the use of Creative Commons licences (for example, Lambert 2013, p.193) to retention of full copyrights by storytellers, to retention of certain rights by facilitating organisations (for example, broadcast rights by community radio stations and public service broadcasters), and a range of other shared rights arrangements between professional creative practitioners, the individual storytellers and communities with which they collaborate, media outlets, exhibitors and funders. This paper also considers how aesthetic and ethical considerations shape responses to questions of intellectual property rights in community media arts contexts. For example, embedded in the CDS digital storytelling method is ‘a critique of power and the numerous ways that rank is unconsciously expressed in engagements between classes, races and gender’ (Lambert 117). The CDS method privileges the interests of the storyteller and, through a transformative workshop process, aims to generate original individual stories that, in turn, reflect self-awareness of ‘how much the way we live is scripted by history, by social and cultural norms, by our own unique journey through a contradictory, and at times hostile, world’ (Lambert 118). Such a critical approach is characteristic of co-creative media practices. It extends to a heightened awareness of the risks of ‘story theft’ and the challenges of ownership and informs ideas of ‘best practice’ amongst creative practitioners, teaching artists and community media producers, along with commitments to achieving equitable solutions for all participants in co-creative media practice (for example, Lyons-Reid and Kuddell nd.). Yet, there is surprisingly little written about the challenges of managing intellectual property produced in co-creative media activities. A dialogic sense of ownership in stories has been identified as an indicator of successful digital storytelling practice (Hayes and Matusov 2005) and is helpful to grounding the more abstract claims of empowerment for social participation that are associated with co-creative methods. Contrary to the ‘change from below’ philosophy that underpins much thinking about co-creative media, however, discussions of intellectual property usually focus on how methods such as digital storytelling contribute to the formation of copyright law-compliant subjects, particularly when used in educational settings (for example, Ohler nd.). This also exposes the reliance of co-creative methods on the creative assets storytellers (rather than on the copyrighted materials of the media cultures of storytellers) as a pragmatic response to the constraints that intellectual property right laws impose on the entire category of participatory media. At the level of practical politics, it also becomes apparent that co-creative media practitioners and storytellers located in copyright jurisdictions governed by ‘fair use’ principles have much greater creative flexibility than those located in jurisdictions governed by ‘fair dealing’ principles.

Chronicling the patient journey: Co-creating value with digital health ecosystems

With the introduction of the PCEHR (Personally Controlled Electronic Health Record), the Australian public is being asked to accept greater responsibility for the management of their health information. However, the implementation of the PCEHR has occasioned poor adoption rates underscored by criticism from stakeholders with concerns about transparency, accountability, privacy, confidentiality, governance, and limited capabilities. This study adopts an ethnographic lens to observe how information is created and used during the patient journey and the social factors impacting on the adoption of the PCEHR at the micro-level in order to develop a conceptual model that will encourage the sharing of patient information within the cycle of care. Objective: This study aims to firstly, establish a basic understanding of healthcare professional attitudes toward a national platform for sharing patient summary information in the form of a PCEHR. Secondly, the studies aims to map the flow of patient related information as it traverses a patient’s personal cycle of care. Thus, an ethnographic approach was used to bring a “real world” lens to information flow in a series of case studies in the Australian healthcare system to discover themes and issues that are important from the patient’s perspective. Design: Qualitative study utilising ethnographic case studies. Setting: Case studies were conducted at primary and allied healthcare professionals located in Brisbane Queensland between October 2013 and July 2014. Results: In the first dimension, it was identified that healthcare professionals’ concerns about trust and medico-legal issues related to patient control and information quality, and the lack of clinical value available with the PCEHR emerged as significant barriers to use. The second dimension of the study which attempted to map patient information flow identified information quality issues, clinical workflow inefficiencies and interoperability misconceptions resulting in duplication of effort, unnecessary manual processes, data quality and integrity issues and an over reliance on the understanding and communication skills of the patient. Conclusion: Opportunities for process efficiencies, improved data quality and increased patient safety emerge with the adoption of an appropriate information sharing platform. More importantly, large scale eHealth initiatives must be aligned with the value proposition of individual stakeholders in order to achieve widespread adoption. Leveraging an Australian national eHealth infrastructure and the PCEHR we offer a practical example of a service driven digital ecosystem suitable for co-creating value in healthcare.

Co-creative media : theorising digital storytelling as a platform for researching and developing participatory culture

This paper considers the question, ‘what is co-creative media, and why is it a useful idea in social media research’? The term ‘co-creative media’ is now used by Creative Industries researchers at QUT to describe their digital storytelling practices. Digital storytelling is a set of collaborative digital media production techniques that have been used to facilitate social participation in numerous Australian and international contexts. Digital storytelling has been adapted by Creative Industries researchers at QUT as a platform for researching the potential of vernacular creativity in a variety of contexts, including social inclusion of marginalized and disadvantaged groups; inclusion in public histories of narratives that might be overlooked; and articulation of voices that otherwise remain silent in the formulation of social and economic development strategies. The adaption of digital storytelling to different contexts has been shaped by the reflexive, recursive, and pragmatic requirements of action research. Amongst other things, this activity draws attention to the agency of researchers in facilitating these kinds of participatory media processes and outcomes. This discussion serves to problematise concepts of participatory media by introducing the term ‘co-creative media’ and differentiating these from other social media production practices.

Lesser-known worlds : bridging the telematic flows with located human experience through game design

This paper represents a new theorization of the role of location-based games (LBGs) as potentially playing specific roles in peoples’ access to the culture of cities [22]. A LBG is a game that employs mobile technologies as tools for game play in real world environments. We argue that as a new genre in the field of mobile entertainment, research in this area tends to be preoccupied with the newness of the technology and its commercial possibilities. However, this overlooks its potential to contribute to cultural production. We argue that the potential to contribute to cultural production lies in the capacity of these experiences to enhance relationships between specific groups and new urban spaces. Given that developers can design LBGs to be played with everyday devices in everyday environments, what new creative opportunities are available to everyday people?

Co-creating games: A co-evolutionary analysis

ABSTRACT. The phenomenon of consumer co-creation is often framed in terms of whether either economic market forces or socio-cultural non-market forces ultimately dominate. We propose an alternate model of consumer co-creation in terms of co-evolution between markets and non-markets. Our model is based on a recent ethnographic study of a massively multiplayer online game through its development, release and ultimate failure, and cast in terms of two explanatory models: multiple games and social network markets. We conclude that consumer co-creation is indeed complex, but in ways that relate to both emergent market expectations and the evolution of markets, not to the transcendence of markets.