Mutations in cardiac T-Box Factor gene TBX20 are associated with diverse cardiac pathologies, including defects of septation and valvulogenesis and cardiomyopathy

The T-box family transcription factor gene TBX20 acts in a conserved regulatory network, guiding heart formation and patterning in diverse species. Mouse Tbx20 is expressed in cardiac progenitor cells, differentiating cardiomyocytes, and developing valvular tissue, and its deletion or RNA interference-mediated knockdown is catastrophic for heart development. TBX20 interacts physically, functionally, and genetically with other cardiac transcription factors, including NKX2-5, GATA4, and TBX5, mutations of which cause congenital heart disease (CHD). Here, we report nonsense (Q195X) and missense (I152M) germline mutations within the T-box DNA-binding domain of human TBX20 that were associated with a family history of CHD and a complex spectrum of developmental anomalies, including defects in septation, chamber growth, and valvulogenesis. Biophysical characterization of wild-type and mutant proteins indicated how the missense mutation disrupts the structure and function of the TBX20 T-box. Dilated cardiomyopathy was a feature of the TBX20 mutant phenotype in humans and mice, suggesting that mutations in developmental transcription factors can provide a sensitized template for adult-onset heart disease. Our findings are the first to link TBX20 mutations to human pathology. They provide insights into how mutation of different genes in an interactive regulatory circuit lead to diverse clinical phenotypes, with implications for diagnosis, genetic screening, and patient follow-up.

Science and engineering for whole of life : integrating education, research and public engagement in a collaborative environment

Policy makers increasingly recognise that an educated workforce with a high proportion of Science, Technology, Engineering and Mathematics (STEM) graduates is a pre-requisite to a knowledge-based, innovative economy. Over the past ten years, the proportion of first university degrees awarded in Australia in STEM fields is below the global average and continues to decrease from 22.2% in 2002 to 18.8% in 2010 [1]. These trends are mirrored by declines between 20% and 30% in the proportions of high school students enrolled in science or maths. These trends are not unique to Australia but their impact is of concern throughout the policy-making community. To redress these demographic trends, QUT embarked upon a long-term investment strategy to integrate education and research into the physical and virtual infrastructure of the campus, recognising that expectations of students change as rapidly as technology and learning practices change. To implement this strategy, physical infrastructure refurbishment/re-building is accompanied by upgraded technologies not only for learning but also for research. QUT’s vision for its city-based campuses is to create vibrant and attractive places to learn and research and to link strongly to the wider surrounding community. Over a five year period, physical infrastructure at the Gardens Point campus was substantially reconfigured in two key stages: (a) a >$50m refurbishment of heritage-listed buildings to encompass public, retail and social spaces, learning and teaching “test beds” and research laboratories and (b) destruction of five buildings to be replaced by a $230m, >40,000m2 Science and Engineering Centre designed to accommodate retail, recreation, services, education and research in an integrated, coordinated precinct. This landmark project is characterised by (i) self-evident, collaborative spaces for learning, research and social engagement, (ii) sustainable building practices and sustainable ongoing operation and; (iii) dynamic and mobile re-configuration of spaces or staffing to meet demand. Innovative spaces allow for transformative, cohort-driven learning and the collaborative use of space to prosecute joint class projects. Research laboratories are aggregated, centralised and “on display” to the public, students and staff. A major visualisation space – the largest multi-touch, multi-user facility constructed to date – is a centrepiece feature that focuses on demonstrating scientific and engineering principles or science oriented scenes at large scale (e.g. the Great Barrier Reef). Content on this visualisation facility is integrated with the regional school curricula and supports an in-house schools program for student and teacher engagement. Researchers are accommodated in a combined open-plan and office floor-space (80% open plan) to encourage interdisciplinary engagement and cross-fertilisation of skills, ideas and projects. This combination of spaces re-invigorates the on-campus experience, extends educational engagement across all ages and rapidly enhances research collaboration.

Towards a model of spray-canopy interactions : interception, shatter, bounce and retention of droplets on horizontal leaves

Pesticides used in agricultural systems must be applied in economically viable and environmentally sensitive ways, and this often requires expensive field trials on spray deposition and retention by plant foliage. Computational models to describe whether a spray droplet sticks (adheres), bounces or shatters on impact, and if any rebounding parent or shatter daughter droplets are recaptured, would provide an estimate of spray retention and thereby act as a useful guide prior to any field trials. Parameter-driven interactive software has been implemented to enable the end-user to study and visualise droplet interception and impaction on a single, horizontal leaf. Living chenopodium, wheat and cotton leaves have been scanned to capture the surface topography and realistic virtual leaf surface models have been generated. Individual leaf models have then been subjected to virtual spray droplets and predictions made of droplet interception with the virtual plant leaf. Thereafter, the impaction behaviour of the droplets and the subsequent behaviour of any daughter droplets, up until re-capture, are simulated to give the predicted total spray retention by the leaf. A series of critical thresholds for the stick, bounce, and shatter elements in the impaction process have been developed for different combinations of formulation, droplet size and velocity, and leaf surface characteristics to provide this output. The results show that droplet properties, spray formulations and leaf surface characteristics all influence the predicted amount of spray retained on a horizontal leaf surface. Overall the predicted spray retention increases as formulation surface tension, static contact angle, droplet size and velocity decreases. Predicted retention on cotton is much higher than on chenopodium. The average predicted retention on a single horizontal leaf across all droplet size, velocity and formulations scenarios tested, is 18, 30 and 85% for chenopodium, wheat and cotton, respectively.

Polyalanine repeat polymorphism in RUNX2 is associated with site-specific fracture in post-menopausal females

Runt related transcription factor 2 (RUNX2) is a key regulator of osteoblast differentiation. Several variations within RUNX2 have been found to be associated with significant changes in BMD, which is a major risk factor for fracture. In this study we report that an 18bp deletion within the polyalanine tract (17A>11A) of RUNX2 is significantly associated with fracture. Carriers of the 11A allele were found to be nearly twice as likely to have sustained fracture. Within the fracture category, there was a significant tendency of 11A carriers to present with fractures of bones of intramembranous origin compared to bones of endochondral origin (p=0.005). In a population of random subjects, the 11A allele was associated with decreased levels of serum collagen cross links (CTx, p=0.01), suggesting decreased bone turnover. The transactivation function of the 11A allele was quantitatively decreased. Interestingly, we found no effect of the 11A allele on BMD at multiple skeletal sites, although these were not the sites where a relationship with fracture was most evident. These findings suggest that the 11A allele is a biologically relevant polymorphism that influences serum CTx and confers enhanced fracture risk in a site-selective manner related to intramembranous bone ossification.

Preexercise aminoacidemia and muscle protein synthesis after resistance exercise

PURPOSE We have previously shown that the aminoacidemia caused by the consumption of a rapidly digested protein after resistance exercise enhances muscle protein synthesis (MPS) more than the amino acid (AA) profile associated with a slowly digested protein. Here, we investigated whether differential feeding patterns of a whey protein mixture commencing before exercise affect postexercise intracellular signaling and MPS. METHODS Twelve resistance-trained males performed leg resistance exercise 45 min after commencing each of three volume-matched nutrition protocols: placebo (PLAC, artificially sweetened water), BOLUS (25 g of whey protein + 5 g of leucine dissolved in artificially sweetened water; 1× 500 mL), or PULSE (15× 33-mL aliquots of BOLUS drink every 15 min). RESULTS The preexercise rise in plasma AA concentration with PULSE was attenuated compared with BOLUS (P < 0.05); this effect was reversed after exercise, with two-fold greater leucine concentrations in PULSE compared with BOLUS (P < 0.05). One-hour postexercise, phosphorylation of p70 S6K and rpS6 was increased above baseline with BOLUS and PULSE, but not PLAC (P < 0.05); furthermore, PULSE > BOLUS (P < 0.05). MPS throughout 5 h of recovery was higher with protein ingestion compared with PLAC (0.037 ± 0.007), with no differences between BOLUS or PULSE (0.085 ± 0.013 vs. 0.095 ± 0.010%•h, respectively, P = 0.56). CONCLUSIONS Manipulation of aminoacidemia before resistance exercise via different patterns of intake of protein altered plasma AA profiles and postexercise intracellular signaling. However, there was no difference in the enhancement of the muscle protein synthetic response after exercise. Protein sources producing a slow AA release, when consumed before resistance exercise in sufficient amounts, are as effective as rapidly digested proteins in promoting postexercise MPS.

The impact of a social-cognitive teaching strategy on students with learning difficulties

This study examined the impact of a social-cognitive teaching strategy, the community of inquiry, on the functioning of six Year 4 students with learning difficulties. Results indicated that the students became more self-regulated in their learning and developed greater academic self-efficacy and stronger reading comprehension skills. Although the degree of development varied across the group, the results indicated that all six students (in addition to their class peers) benefited from actively engaging in scaffolded opportunities for intellectual and social exchange in a whole class setting. Accordingly, the findings of this study have implications for approaches to supporting the development and learning of students with learning difficulties.

Innovation in the road and bridge industry

This paper reviews innovation activity in a key service industry – road and bridge construction. Based on a large-scale Australian survey and descriptive statistics, the paper finds that there is little difference in innovation levels between different types of industry participants and that innovation is difficult to implement. The survey gathered responses from suppliers, consultants, contracts and clients and compared results across these four industry sectors. The absorptive capacity and relationship capacities of respondents were also investigated. One in five respondents had poor absorptive capacity. Suppliers were found to the most effective learners and were the best adopters of ideas from outside their organisations and consultants were the least effective. Australian construction organisations have relatively good relationship skills because relationship-based contracts are common compared to other countries. Indeed, the survey found that nearly 60% of respondents had experience with such contracts, with clients having more experience than the other three sectors. The results have implications for the measurement of innovation in project-based industries, and the relative roles of clients and suppliers in driving innovation in the construction industry. Further research will examine the extent to which particular governance mechanisms within relationship contracts lead to improved innovation and project performance.

What's in it for me? Virtual conspicuous donation strategies as a source of value in blood donation

Providing an incentive is becoming common practice among blood service organisations. Driven by self-orientated motives rather than pure philanthropic intentions, research is showing that people increasingly want something in return for their support. It is contended that individuals donate conspicuously with the hope it will improve their social standing. Yet there is limited evidence for the effectiveness of conspicuous recognition strategies, and no studies, to the researcher’s knowledge, that have examined conspicuous donation strategies in an online social media context. There is a need to understand what value drives individuals to donate blood, and whether conspicuous donation strategies are a source of such value post blood donation. The purpose of this paper is to conceptualise how conspicuous donation strategies, in the form of virtual badges on social media sites, can be applied to the social behaviour of blood donation, as a value-adding tool, to encourage repeat behaviour.

The effect of consumer education on unit price usage : an early exploratory study

Consumer awareness and usage of Unit Price (UP) information continues to hold academic interest. Originally designed as a device to enable shoppers to make comparisons between grocery products, it is argued consumers still lack a sufficient understanding of the device. Previous research has tended to focus on product choice, effect of time, and structural changes to price presentation. No studies have tested the effect of UP consumer education on grocery shopping expenditure. Supported by distributed learning theories, this is the first study to condition participants over a twenty week period, to comprehend and employ UP information while shopping. A 3x5 mixed factorial design was employed to collect data from 357 shoppers. A 3 (Control, Massed, Spaced) x 5 (Time Point: Week 0, 5, 10, 15 and 20) mixed factorial analysis of variance (ANOVA) was performed to analyse the data. Preliminary results revealed that the three groups differed in their average expenditure over the twenty weeks. The Control group remained stable across the five time points. Results indicated that both intensive (Massed) and less intensive (Spaced) exposure to UP information achieved similar results, with both group reducing average expenditure similarly by Week 5. These patterns held for twenty weeks, with conditioned groups reducing their grocery expenditure by over 10%. This research has academic value as a test of applied learning theories. We argue, retailers can attain considerable market advantages as efforts to enhance customers’ knowledge, through consumer education campaigns, can have a positive and strong impact on customer trust and goodwill toward the organisation. Hence, major practical implications for both regulators and retailers exist.

Give some, get some: investigating the relationship between conspicuous donation behaviour on social media and customer value in a blood donation context

Previous research has questioned the role of altruism in charitable donation and suggests that such behaviour is also motivated by self-interest, such as public recognition or emotional satisfaction. Recognising this, not-for-profit organisations have developed strategies that allow individuals to donate conspicuously, and are at an embryonic stage of turning to social media to provide such recognition. Under investigation in this paper, is the relationship between conspicuous donation behaviour (CDB) on social media and customer value, in blood donation. Online survey results, from a sample of 186 Australian blood donors, support the proposed framework. Significant relationships between self-orientated CDB and emotional value, and other-orientated CDB and social value are demonstrated. The findings provide valuable insights into the use of conspicuous donation strategies on social media as a means to add value to the donation experience, and contribute to our understanding into the under-researched areas of CDB and customer value.

Self-gifting guilt : an examination of self-gifting motivations and post-purchase regret

Purpose Self-gifting is a performative process in which consumers purchase products for themselves. The literature to date remains silent on a determination and connection between the extents of post-purchase regret resulting from self-gifting behavior. The purpose of this paper is to examine identification and connection of self-gifting antecedents, self-gifting and the effect on post purchase regret. Design/methodology/approach This study claims the two antecedents of hedonistic shopping and indulgence drive self-gifting behaviors and the attendant regret. A total of 307 shoppers responded to a series of statements concerning the relationships between antecedents of self-gifting behavior and the effect on post-purchase regret. Self-gifting is a multi-dimensional construct, consisting of therapeutic, celebratory, reward and hedonistic imports. Confirmatory factor analysis and AMOS path modeling enabled examination of relationships between the consumer traits of hedonistic shopping and indulgence and the four self-gifting concepts. Findings Hedonic and indulgent shoppers engage in self-gifting for different reasons. A strong and positive relationship was identified between hedonic shoppers and reward, hedonic, therapeutic and celebratory self-gift motivations. hedonic shoppers aligned with indulgent shoppers who also engaged the four self-gifting concepts. The only regret concerning purchase of self-gifts was evident in the therapeutic and celebratory self-gift motivations. Research limitations/implications A major limitation was the age range specification of 18 to 45 years which meant the omission of older generations of regular and experienced shoppers. This study emphasizes the importance of variations in self-gift behaviors and of post-purchase consumer regret. Originality/value This research is the first examination of an hedonic attitude to shopping and indulgent antecedents to self-gift purchasing, the concepts of self-gift motivations and their effect on post-purchase regret.

The impact of consumer religiosity on consumer perceptions of risk

This brief provides the conceptual background of current research aiming to improve the understanding of the relationship between consumer religiosity and social and psychological risks associated with adopting new products and technologies. This project includes two main studies framed by Hunt-Vitell’s General Theory of Marketing Ethics and Theory of Moral Potency. Using scenario based experimental 2x2 design, two research questions will be answered upon the completion of the project: what is the nature of the relationship between consumer religiosity and perceptions of psychological and social risk? What is the role of moral potency in the relationship between consumer religiosity perception of psychological and social risk?

Enterprise social networks : a business model perspective

Enterprise Social Networks continue to be adopted by organisations looking to increase collaboration between employees, customers and industry partners. Offering a varied range of features and functionality, this technology can be distinguished by the underlying business models that providers of this software deploy. This study identifies and describes the different business models through an analysis of leading Enterprise Social Networks: Yammer, Chatter, SharePoint, Connections, Jive, Facebook and Twitter. A key contribution of this research is the identification of consumer and corporate models as extreme approaches. These findings align well with research on the adoption of Enterprise Social Networks that has discussed bottom-up and top-down approaches. Of specific interest are hybrid models that wrap a corporate model within a consumer model and may, therefore, provide synergies on both models. From a broader perspective, this can be seen as the merging of the corporate and consumer markets for IT products and services.

Software as a service (SaaS) for small and medium enterprises (SMEs) : the role of intermediaries

Software as a Service (SaaS) is anticipated to provide significant benefits to small and medium enterprises (SMEs) due to ease of access to high-end applications, 7*24 availability, utility pricing, etc. However, underlying SaaS is the assumption that SMEs will directly interact with the SaaS vendor and use a self-service model. In practice, we see the rise of SaaS intermediaries who support SMEs with using SaaS. This paper reports on an empirical study of the role of intermediaries in terms of how they support SMEs in sourcing and leveraging SaaS for their business. The knowledge contributions of this paper are: (1) the identification and description of the role of SaaS intermediaries and (2) the specification of different roles of SaaS intermediaries, in particular a more basic role with technology orientation and operational alignment perspective and (3) a more added value role with customer orientation and strategic alignment perspective.

A critical realist perspective of enterprise architecture evolution : preliminary findings

This paper investigates how Enterprise Architecture (EA) evolves due to emerging trends. It specifically explores how EA integrates the Service-oriented Architecture (SOA). Archer’s Morphogenetic theory is used as an analytical approach to distinguish the architectural conditions under which SOA is introduced, to study the relationships between these conditions and SOA introduction, and to reflect on EA evolution (elaborations) that then take place. The paper focuses on reasons for why EA evolution could take place, or not and what architectural changes could happen due to SOA integration. The research builds on sound theoretical foundations to discuss EA evolution in a field that often lacks a solid theoretical groundwork. Specifically, it proposes that critical realism, using the morphogenetic theory, can provide a useful theoretical foundation to study enterprise architecture (EA) evolution. The initial results of a literature review (a-priori model) were extended using explorative interviews. The findings of this study are threefold. First, there are five different levels of EA-SOA integration outcomes. Second, a mature EA, flexible and well-defined EA framework and comprehensive objectives of EA improve the integration outcomes. Third, the analytical separation using Archer’s theory is helpful in order to understand how these different integration outcomes are generated.