Evidence for an X-linked genetic component in familial typical migraine

Migraine is a common complex disorder that shows strong familial aggregation. There is a general increased prevalence of migraine in females compared with males, with recent studies indicating that migraine affects 18% of females compared with 6% of males. This preponderance of females among migraine sufferers coupled with evidence of an increased risk of migraine in first degree relatives of male probands but not in relatives of female probands suggests the possibility of an X-linked dominant gene. We report here the localization of a typical migraine susceptibility locus to the X chromosome. Of three large multigenerational migraine pedigrees two families showed significant excess allele sharing to Xq markers (P = 0.031 and P = 0.012). Overall analysis of data from all three pedigrees gave significant evidence in support of linkage and heterogeneity (HLOD = 3.1). These findings provide conclusive evidence that familial typical migraine is a heterogeneous disorder. We suggest that the localization of a migraine susceptibility locus to the X chromosome could in part explain the increased risk of migraine in relatives of male probands and may be involved in the increased female prevalence of this disorder.

Novel TBK1 truncating mutation in a familial amyotrophic lateral sclerosis patient of Chinese origin

Missense and frameshift mutations in TRAF family member-associated NF-kappa-B activator (TANK)-binding kinase 1 (TBK1) have been reported in European sporadic and familial amyotrophic lateral sclerosis (ALS) cohorts. To assess the role of TBK1 in ALS patient cohorts of wider ancestry, we have analyzed whole-exome sequence data from an Australian cohort of familial ALS (FALS) patients and controls. We identified a novel TBK1 deletion (c.1197delC) in a FALS patient of Chinese origin. This frameshift mutation (p.L399fs) likely results in a truncated protein that lacks functional domains required for adapter protein binding, as well as protein activation and structural integrity. No novel or reported TBK1 mutations were identified in FALS patients of European ancestry. This is the first report of a TBK1 mutation in an ALS patient of Asian origin and indicates that sequence variations in TBK1 are a rare cause of FALS in Australia. © 2015 Elsevier Inc.

Lady Nugent and Tom Cringle on the veranda : early nineteenth century observations on a Caribbean architectural feature

This study of the veranda as seen through the eyes of Lady Maria Nugent and Michael Scott, alias Tom Cringle, clearly demonstrates the important role that the piazza, as it was then more commonly known, played in the life of early nineteenth century Caribbean colonial society. The popularity of the veranda throughout the region, in places influenced by different European as well as African cultures, and among all classes of people, suggests that the appeal of this typical feature was based on something more than architectural fashion. A place of relative comfort in hot weather, the veranda is also a space at the interface of indoors and outdoors which allows for a wide variety of uses, for solitary or small or large group activities, many of which were noted by Nugent and Scott. Quintessentially, the veranda is a place in which to relax and take pleasure, not least of which is the enjoyment of the prospect, be it a panoramic view, a peaceful garden or a lively street scene. Despite the great changes in the nature of society, in the Caribbean and in many other parts of the world, the veranda and related structures such as the balcony continue to play at least as important a role in daily life as they did two centuries ago. The veranda of today’s Californian or Australian bungalow, and the balcony of the apartment block in the residential area of the modern city are among the contemporary equivalents of the lower and upper piazzas of Lady Nugent’s and Tom Cringle’s day.

Health information management : What business are we in?

Developments in information technology will drive the change in records management; however, it should be the health information managers who drive the information management change. The role of health information management will be challenged to use information technology to broker a range of requests for information from a variety of users, including he alth consumers. The purposes of this paper are to conceptualise the role of health information management in the context of a technologically driven and managed health care environment, and to demonstrat e how this framework has been used to review and develop the undergraduate program in health information management at the Queensland University of Technology.

Australian waterfalls as tourism attractions

For a largely arid country with generally low relief, Australia has a remarkably large number and variety of waterfalls. Found mainly near the coast, close to where most of the population lives and near the major tourist resort areas, these landscape features have long been popular scenic attractions. As sights to see and places to enjoy a variety of recreational activities, waterfalls continue to play an important role in Australia’s tourism, even in seaside resort areas where the main attractions are sunshine, sandy beaches and surf. The aesthetic appeal of waterfalls and their value as recreational resources are recognized by the inclusion of many in national parks. Even here, demands of visitors and pressures from developers raise serious problems. This paper examines the way in which waterfalls have been developed and promoted as tourist attractions, demonstrating their importance to Australian tourism. It considers threats to the sustainable use of waterfall resources posed by power schemes and, particularly, by the tourist industry itself. Queensland’s Gold Coast is selected as a case study, and comparisons are made with other areas in which waterfalls have played important roles as tourist attractions, especially the Yorkshire coast of northeast England. The discussion draws largely on an examination of tourist literature from the nineteenth to the twenty-first century, including holiday brochures and guide books, as well as other published sources, together with field observation in various parts of the world

Knowledge Sharing within IT Projects

Even though today’s corporations recognize that they need to understand modern project management techniques (Schwalbe, 2002, p2), many researchers continue to provide evidence of poor IT project success. With Kotnour, (2000) finding that project performance is positively associated with project knowledge, a better understanding of how to effectively manage knowledge in IT projects should have considerable practical significance for increasing the chances of project success. Using a combined qualitative/quantitative method of data collection in multiple case studies spanning four continents, and comprising a variety of organizational types, the focus of this current research centered on the question of why individuals working within IT project teams might be motivated towards, or inhibited from, sharing their knowledge and experience in their activities, procedures, and processes. The research concluded with the development of a new theoretical model of knowledge sharing behavior, ‘The Alignment Model of Motivational Focus’. This model suggests that an individual’s propensity to share knowledge and experience is a function of perceived personal benefits and costs associated with the activity, balanced against the individual’s alignment to a group of ‘institutional’ factors. These factors are identified as alignments to the project team, to the organization, and dependent on the circumstances, to either the professional discipline or community of practice, to which the individual belongs.

Turbocharging Networks in the Public Sector

Networks have come to occupy a key position in the strategic armoury of the government, business and community sectors and now have impact on a broad array of policy and management arenas. An emphasis on relationships, trust and mutuality mean that networks function on a different operating logic to the conventional processes of government and business. It is therefore important that organizational members of networks are able to adopt the skills and culture necessary to operate successfully under these distinctive kinds of arrangements. Because networks function from a different operational logic to traditional bureaucracies, public sector organizations may experience difficulties in adapting to networked arrangements. Networks are formed to address a variety of social problems or meet capability gaps within organizations. As such they are often under pressure to quickly produce measurable outcomes and need to form rapidly and come to full operation quickly. This paper presents a theoretical exploration of how diverse types of networks are required for different management and policy situations and draws on a set of public sector case studies to understand/demonstrate how these various types of networked arrangements may be ‘turbo-charged’ so that they more quickly adopt the characteristics necessary to deliver required outcomes.

Impediments to Cosmopolitan Engagement: Technology and Late-Modern Cosmopolitanism

What characterises late modern variety of cosmopolitanism from its classical predecessors is the inherent connection between cosmopolitanism and technology. Technology enables a vital dimension of the cosmopolitan experience – to move beyond the cosmopolitan imagination to enable active, direct engagement with other cultures. Different types of technologies contribute to cosmopolitan practice but in this paper we focus on a specific set of these enabling technologies: technologies which play a crucial role in regulating the free movement of people and populations. We briefly examine how three of the great surveillance states of the 20th century – Nazi Germany, the Soviet Union, and the German Democratic Republic – used hightech solutions in pursuing an anti-cosmopolitanism. We suggest that in the period from 2001 to the present, important elements of the cosmopolitan ethos are being closed down, and once again high-tech is intimately connected to this moment. The increasing (and proposed) use of identity cards, biometric identification systems, ITS and GIS all work to make the globalised world much harder to traverse and inhibit the full expression and experience of cosmopolitanism. The result of these trends may be that the type of cosmopolitan sentiment exhibited in western countries is an ersatz, emptied out variety with little political-ethical robustness.

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.

Mining in Northern British Columbia

The history of the settlement of the province is tied to patterns of exploration and min development. In Northern British Columbia the Cariboo goldfields provided the impetus for settlement of the region and the beginning for mining to extend into the watern and northern regions in a series of minor gold rushes. The northern half of the province has a geological diverse mineral base that supports a wide variety of mining, and a gradual improvement of exploration and mining methods due to scientific knowledge and technology provided opportunities for lode gold and base metal mines to be developed. The success of mining is based on world ore prices and competitive markets that impact the economic viability of developing a mine. Mining faces increasing pressures in the northern half of the province due to other resource values, such as tourism or protected areas, that claim and compete for a similar land base.

Tensions, transisitions and triumphs : examining the transitional experience of fashion students between school and university

Joining any new community involves transition and adaptation. Just as we learn to adapt to different cultures when we choose to live abroad, so students learn the language and culture of an academic community in order to succeed within that environment. At the same time however, students bring with them individual learning styles and expectations, influenced by their prior experiences of learning and of life more generally. Some have excelled at school; others have come to fashion seeking something in which to excel for the first time. Commencing a degree in fashion design brings students into contact with peers and lecturers who share their passion, providing them with a community of practice which can be both supportive and at the same time intimidating.----- In Queensland where university level study in fashion is such a new phenomenon, few applicants have any depth of training in design when they apply to study fashion. Unlike disciplines such as Dance or Visual Art, where lecturers can expect a good level of skill upon entry to a degree program, we have to look for the potential evidenced in an applicant’s portfolio, much of which is untutored work that they have generated themselves in preparation for application. This means that many first year fashion students at QUT whilst very passionate about the idea of fashion design are often very naïve about the practice of fashion design, with limited knowledge of the history or cultural context of fashion and few of the technical skills needed to translate their ideas into three dimensional products.----- For teachers engaging with first year students in the design studios, it is critical to be cognizant of this mix of different experiences, expectations and emotions in order to design curricula and assessment that stretch and engage students without unduly increasing their sense of frustration and anxiety. This paper examines a first year project designed to provide an introduction to design process and to learning within a creative discipline. The lessons learnt provide a valuable and transferable resource for lecturers in a variety of art and design disciplines.

A natural model for architecture : the nature of the evolutionary model 1995

John Frazer's architectural work is inspired by living and generative processes. Both evolutionary and revolutionary, it explores informatin ecologies and the dynamics of the spaces between objects. Fuelled by an interest in the cybernetic work of Gordon Pask and Norbert Wiener, and the possibilities of the computer and the "new science" it has facilitated, Frazer and his team of collaborators have conducted a series of experiments that utilize genetic algorithms, cellular automata, emergent behaviour, complexity and feedback loops to create a truly dynamic architecture. Frazer studied at the Architectural Association (AA) in London from 1963 to 1969, and later became unit master of Diploma Unit 11 there. He was subsequently Director of Computer-Aided Design at the University of Ulter - a post he held while writing An Evolutionary Architecture in 1995 - and a lecturer at the University of Cambridge. In 1983 he co-founded Autographics Software Ltd, which pioneered microprocessor graphics. Frazer was awarded a person chair at the University of Ulster in 1984. In Frazer's hands, architecture becomes machine-readable, formally open-ended and responsive. His work as computer consultant to Cedric Price's Generator Project of 1976 (see P84)led to the development of a series of tools and processes; these have resulted in projects such as the Calbuild Kit (1985) and the Universal Constructor (1990). These subsequent computer-orientated architectural machines are makers of architectural form beyond the full control of the architect-programmer. Frazer makes much reference to the multi-celled relationships found in nature, and their ongoing morphosis in response to continually changing contextual criteria. He defines the elements that describe his evolutionary architectural model thus: "A genetic code script, rules for the development of the code, mapping of the code to a virtual model, the nature of the environment for the development of the model and, most importantly, the criteria for selection. In setting out these parameters for designing evolutionary architectures, Frazer goes beyond the usual notions of architectural beauty and aesthetics. Nevertheless his work is not without an aesthetic: some pieces are a frenzy of mad wire, while others have a modularity that is reminiscent of biological form. Algorithms form the basis of Frazer's designs. These algorithms determine a variety of formal results dependent on the nature of the information they are given. His work, therefore, is always dynamic, always evolving and always different. Designing with algorithms is also critical to other architects featured in this book, such as Marcos Novak (see p150). Frazer has made an unparalleled contribution to defining architectural possibilities for the twenty-first century, and remains an inspiration to architects seeking to create responsive environments. Architects were initially slow to pick up on the opportunities that the computer provides. These opportunities are both representational and spatial: computers can help architects draw buildings and, more importantly, they can help architects create varied spaces, both virtual and actual. Frazer's work was groundbreaking in this respect, and well before its time.

The guide to the project management body of knowledge (PMBOK Guide) : applicability and contribution to project success in Australia

The PMBOK Guide is one of the most influential publications concerning the knowledge of the project manangement. Moreover, the pervasion of this guide seems to be set to increase as the basis of accreditation - in conjunction with the increasing global trend toward obtaining project management professional status. However, despite the influence and strengthening profile of this guide, reports continue to be published that detail numerous project failures in a wide range of different industries. The PMBOK Guide comprises mainly declarative (know-what) and procedural (know-how) information. In this sense, the guide is largely normative and provides a very good example of the limitations of this approach as highlighted by proponents of a move to the genuine application of positibe theory in project management.----- The aim of this paper is to determine the applicability of the guide in Australia and to determine the extent to which project success can be attributed to the guide. Project Managers from a variety of organisations were surveyed. This postal survey yielded 48 replies. Descriptive statistics was used to assess the incidence and effectivieness of all the processes in the guide. The results indicate that there were no processes that could be considered as peripheral or as a candidate for elimination from the guide. More specifically, all the processes were identified as either a key routine process or a key selective process and positively related to the level of project success. However, the results also indicated that other major factors pertaining to causal knowledge (know-why) are, at least, equally important determinants of project success. It is concluded that declarative, procedural and causal knowledge are all valuable, and given the preponderance of the first two types of knowledge, there seems to be an urgent need to now ensure an equal quest for causal knowledge. In terms of developing causal knowledge, a good starting point would appear to be both positive theory from production and economics.

Building a supportive environment for teaching and learning : a reflective commentary

Universities are increasingly caught in the transition between college institutions of independant academics to become managed businesses of research and teaching and learning. This is introducing substantial issues with the work, approach and personal development needs of individual academics. It is causing even greater concerns for managers within universities. The developments in University Management have increasingly become driven towards issues of finance, quality and marketing. Organizational development in teaching and learning practices has been less commonly a point of focus. This paper outlines developments of this nature at the University of Salford. Through its combination of authors it does so at whole University, Faculty and School levels. It outlines the variety of ways in which teaching and learning developments can be supported within an organisation.

Advanced nursing practice : a global perspective

Aim: To review the titles, roles and scope of practice of Advanced Practice Nurses internationally.----- Background: There is a worldwide shortage of nurses but there is also an increased demand for nurses with enhanced skills who can manage a more diverse, complex and acutely ill patient population than ever before. As a result, a variety of nurses in advanced practice positions has evolved around the world. The differences in nomenclature have led to confusion over the roles, scope of practice and professional boundaries of nurses in an international context.----- Method: CINAHL, Medline, and the Cochrane database of Systematic Reviews were searched from 1987 to 2008. Information was also obtained through government health and professional organisation websites. All information in the literature regarding current and past status, and nomenclature of advanced practice nursing was considered relevant.----- Findings: There are many names for Advanced Practice Nurses, and although many of these roles are similar in their function, they can often have different titles.----- Conclusion: Advanced Practice Nurses are critical for the future, provide cost-effective care and are highly regarded by patients/clients. They will be a constant and permanent feature of future health care provision. However, clarification regarding their classification and regulation is necessary in some countries.