Multiple sclerosis susceptibility-associated SNPs do not influence disease severity measures in a cohort of Australian MS patients

Recent association studies in multiple sclerosis (MS) have identified and replicated several single nucleotide polymorphism (SNP) susceptibility loci including CLEC16A, IL2RA, IL7R, RPL5, CD58, CD40 and chromosome 12q13–14 in addition to the well established allele HLA-DR15. There is potential that these genetic susceptibility factors could also modulate MS disease severity, as demonstrated previously for the MS risk allele HLA-DR15. We investigated this hypothesis in a cohort of 1006 well characterised MS patients from South-Eastern Australia. We tested the MS-associated SNPs for association with five measures of disease severity incorporating disability, age of onset, cognition and brain atrophy. We observed trends towards association between the RPL5 risk SNP and time between first demyelinating event and relapse, and between the CD40 risk SNP and symbol digit test score. No associations were significant after correction for multiple testing. We found no evidence for the hypothesis that these new MS disease risk-associated SNPs influence disease severity.

Genome-wide association study identifies new multiple sclerosis susceptibility loci on chromosomes 12 and 20

To identify multiple sclerosis (MS) susceptibility loci, we conducted a genome-wide association study (GWAS) in 1,618 cases and used shared data for 3,413 controls. We performed replication in an independent set of 2,256 cases and 2,310 controls, for a total of 3,874 cases and 5,723 controls. We identified risk-associated SNPs on chromosome 12q13-14 (rs703842, P = 5.4 x 10(-11); rs10876994, P = 2.7 x 10(-10); rs12368653, P = 1.0 x 10(-7)) and upstream of CD40 on chromosome 20q13 (rs6074022, P = 1.3 x 10(-7); rs1569723, P = 2.9 x 10(-7)). Both loci are also associated with other autoimmune diseases. We also replicated several known MS associations (HLA-DR15, P = 7.0 x 10(-184); CD58, P = 9.6 x 10(-8); EVI5-RPL5, P = 2.5 x 10(-6); IL2RA, P = 7.4 x 10(-6); CLEC16A, P = 1.1 x 10(-4); IL7R, P = 1.3 x 10(-3); TYK2, P = 3.5 x 10(-3)) and observed a statistical interaction between SNPs in EVI5-RPL5 and HLA-DR15 (P = 0.001).

SHOX gene is expressed in vertebral body growth plates in idiopathic and congenital scoliosis : implications for the etiology of scoliosis in Turner Syndrome

Reduced SHOX gene expression has been demonstrated to be associated with all skeletal abnormalities in Turner syndrome, other than scoliosis (and kyphosis). There is evidence to suggest that Turner syndrome scoliosis is clinically and radiologically similar to idiopathic scoliosis, although the phenotypes are dissimilar. This pilot gene expression study used relative quantitative real-time PCR (qRT-PCR) of the SHOX (short stature on X) gene to determine whether it is expressed in vertebral body growth plates in idiopathic and congenital scoliosis. After vertebral growth plate dissection, tissue was examined histologically and RNA was extracted and its integrity was assessed using a Bio-Spec Mini, NanoDrop ND-1000 spectrophotometer and standard denaturing gel electrophoresis. Following cDNA synthesis, gene-specific optimization in a Corbett RotorGene 6000 real-time cycler was followed by qRT-PCR of vertebral tissue. Histological examination of vertebral samples confirmed that only growth plate was analyzed for gene expression. Cycling and melt curves were resolved in triplicate for all samples. SHOX abundance was demonstrated in congenital and idiopathic scoliosis vertebral body growth plates. SHOX expression was 11-fold greater in idiopathic compared to congenital (n = 3) scoliosis (p = 0.027). This study confirmed that SHOX was expressed in vertebral body growth plates, which implies that its expression may also be associated with the scoliosis (and kyphosis) of Turner syndrome. SHOX expression is reduced in Turner syndrome (short stature). In this study, increased SHOX expression was demonstrated in idiopathic scoliosis (tall stature) and congenital scoliosis.

Snapshots of informed learning : LIS and beyond

Responding to the need for innovative LIS curriculum and pedagogy, grounded in both information and learning theory, this paper introduces the theory and practice of informed learning. After explaining how informed learning originated within the LIS discipline we outline the principles and characteristics of informed learning. Then we present snapshots of three units of study from LIS programs at Queensland University of Technology (QUT), followed by an overview of informed learning developments in a varied range of educational contexts beyond LIS programs. Finally, we reflect upon the relevance of informed learning to LIS education and its wider contribution to learning and teaching in higher education.

Does a functional activity programme improve function, quality of life, and falls for residents in long term care? Cluster randomised controlled trial

Objective To assess the effectiveness of an activity programme in improving function, quality of life, and falls in older people in residential care. Design Cluster randomised controlled trial with one year follow-up. Setting 41low level dependency residential carehomes in New Zealand. Participants 682 people aged 65 years or over. Interventions 330 residents were offered a goal setting and individualised activities of daily living activity programme by a gerontology nurse, reinforced by usual healthcare assistants; 352 residents received social visits. Main outcome measures Function (late life function and disability instruments, elderly mobility scale, FICSIT-4

Promoting independence in residential care : successful recruitment for a randomised controlled trial

OBJECTIVES: To describe the recruitment strategy and association between facility and staff characteristics and success of resident recruitment for the Promoting Independence in Residential Care (PIRC) trial. DESIGN: Cross-sectional study of staff and facility characteristics and recruitment rates within facilities with calculation of cluster effects of multiple measures. SETTING AND PARTICIPANTS: Staff of low-level dependency residential care facilities and residents able to engage in a physical activity program in 2 cities in New Zealand. MEASURES: A global impression of staff willingness to facilitate research was gauged by research nurses, facility characteristics were measured by staff interview. Relevant outcomes were measured by resident interview and included the following: (1) Function: Late Life FDI scale, timed-up-and-go, FICSIT balance scale and the Elderly Mobility Scale; (2) Quality of Life: EuroQol quality of life scale, Life Satisfaction Index; and (3) falls were assessed by audit of the medical record. Correlation between recruitment rates, facility characteristics and global impression of staff willingness to participate were investigated. Design effects were calculated on outcomes. RESULTS: Forty-one (85%) facilities and 682 (83%) residents participated, median age was 85 years (range 65-101), and 74% were women. Participants had complex health problems. Recruitment rates were associated (but did not increase linearly) with the perceived willingness of staff, and were not associated with facility size. Design effects from the cluster recruitment differed according to outcome. CONCLUSIONS: The recruitment strategy was successful in recruiting a large sample of people with complex comorbidities and high levels of functional disability despite perceptions of staff reluctance. Staff willingness was related to recruitment success.

Effect of vitamin D supplementation on antibiotic use : a randomized controlled trial

BACKGROUND: Observational data suggested that supplementation with vitamin D could reduce risk of infection, but trial data are inconsistent. OBJECTIVE: We aimed to examine the effect of oral vitamin D supplementation on antibiotic use. DESIGN: We conducted a post hoc analysis of data from pilot D-Health, which is a randomized trial carried out in a general community setting between October 2010 and February 2012. A total of 644 Australian residents aged 60-84 y were randomly assigned to receive monthly doses of a placebo (n = 214) or 30,000 (n = 215) or 60,000 (n = 215) IU oral cholecalciferol for ≤12 mo. Antibiotics prescribed during the intervention period were ascertained by linkage with pharmacy records through the national health insurance scheme (Medicare Australia). RESULTS: People who were randomly assigned 60,000 IU cholecalciferol had nonsignificant 28% lower risk of having antibiotics prescribed at least once than did people in the placebo group (RR: 0.72; 95% CI: 0.48, 1.07). In analyses stratified by age, in subjects aged ≥70 y, there was a significant reduction in antibiotic use in the high-dose vitamin D compared with placebo groups (RR: 0.53; 95% CI: 0.32, 0.90), whereas there was no effect in participants <70 y old (RR: 1.07; 95% CI: 0.58, 1.97) (P-interaction = 0.1). CONCLUSION: Although this study was a post hoc analysis and statistically nonsignificant, this trial lends some support to the hypothesis that supplementation with 60,000 IU vitamin D/mo is associated with lower risk of infection, particularly in older adults. The trial was registered at the Australian New Zealand Clinical Trials Registry (anzctr.org.au) as ACTRN12609001063202.

Information and Learning Experiences in the Cube: Vision, Implementation and Interaction

Executive Summary This project has commenced an exploration of learning and information experiences in the QUT Cube. Understanding learning in this environment has the potential to inform current implementations and future project development. In this report, we present early findings from the first phase of an investigation into what makes learning possible in the context of a giant interactive multi-media display such as the QUT Cube, which is an award-winning configuration that hosts several projects.

Saliva-derived DNA performs well in large-scale, high-density single-nucleotide polymorphism microarray studies

As of June 2009, 361 genome-wide association studies (GWAS) had been referenced by the HuGE database. GWAS require DNA from many thousands of individuals, relying on suitable DNA collections. We recently performed a multiple sclerosis (MS) GWAS where a substantial component of the cases (24%) had DNA derived from saliva. Genotyping was done on the Illumina genotyping platform using the Infinium Hap370CNV DUO microarray. Additionally, we genotyped 10 individuals in duplicate using both saliva- and blood-derived DNA. The performance of blood- versus saliva-derived DNA was compared using genotyping call rate, which reflects both the quantity and quality of genotyping per sample and the “GCScore,” an Illumina genotyping quality score, which is a measure of DNA quality. We also compared genotype calls and GCScores for the 10 sample pairs. Call rates were assessed for each sample individually. For the GWAS samples, we compared data according to source of DNA and center of origin. We observed high concordance in genotyping quality and quantity between the paired samples and minimal loss of quality and quantity of DNA in the saliva samples in the large GWAS sample, with the blood samples showing greater variation between centers of origin. This large data set highlights the usefulness of saliva DNA for genotyping, especially in high-density single-nucleotide polymorphism microarray studies such as GWAS.

Health Information Literacy and the Experience of 65 to 79 Year Old Australians

Information literacy is presented here from a relational perspective, as people’s experience of using information to learn in a particular context. A detailed practical example of such a context is provided, in the health information literacy experience of 65–79 year old Australians. A phenomenographic investigation found five qualitatively distinct ways of experiencing health information literacy: Absorbing (intuitive reception), Targeting (a planned process), Journeying (a personal quest), Liberating (equipping for independence) and Collaborating (interacting in community). These five ways of experiencing indicated expanding awareness of context (degree of orientation towards their environment), source (breadth of esteemed information), beneficiary (the scope of people who gain) and agency (amount of activity), across HIL core aspects of information, learning and health. These results illustrate the potential contribution of relational information literacy to information science.

Out of position : the ball park of humour in contemporary art

This practice-led research project explores how humour can be employed to develop a methodology for examining the socio-political dimensions of contemporary art practice. This research aims to identify and elaborate on how using the evasive strategies and elliptical frameworks associated with ideas of the absurd and nonsense can lead to new ways of understanding the nexus between social, political and cultural practices. This is achieved primarily through an examination of the art practices of Marcel Duchamp, Bruce Nauman, and Martin Kippenberger. These artists contextualise this research because in different ways they all engage with humour as a device to critique conventional notions of how art can be read or understood. Using these strategies the project aims to demonstrate new ways for considering how visual art can use humour to creatively and critically investigate the relationships between art and the social.

Conference Keynote: Information literacy research and practice: An experiential perspective

In this paper I will explore some experience-based perspectives on information literacy research and practice. The research based understanding of what information literacy looks like to those experiencing it, is very different from the standard interpretations of information literacy as involving largely text based information searching, interpretation, evaluation and use. It also involves particular understandings of the interrelation between information and learning experiences. In following this thread of the history of information literacy I will reflect on aspects of the past, present and future of information literacy research. In each of these areas I explore experiential, especially phenomenographic approaches to information literacy and information literacy education, to reveal the unfolding understanding of people’s experience of information literacy stemming from this orientation. In addressing the past I will look in particular at the contribution of the seven faces of information literacy and some lessons learned from attending to variation in experience. I will explore important directions and insights that this history may help us to retain; including the value of understanding peoples’ information literacy experience. In addressing the present, I will introduce more recent work that adopts the key ideas of informed learning by attending to both information and learning experiences in specific contexts. I will look at some contemporary directions and key issues, including the reinvention of the phenomenographic, or relational approach to information literacy as informed learning or using information to learn. I will also provide some examples of the contribution of experiential approaches to information literacy research and practice. The evolution and development of the phenomenographic approach to information literacy, and the growing attention to a dual focus on information and learning experiences in this approach will be highlighted. Finally, in addressing the future I will return to advocacy, the recognition and pursuit of the transforming and empowering heart of information literacy; and suggest that for information literacy research, including the experiential, a turn towards the emancipatory has much to offer.

Methodological developments in phenomenography : investing using information to learn in the discipline classroom

This paper discusses methodological developments in phenomenography that make it apropos for the study of teaching and learning to use information in educational environments. Phenomenography is typically used to analyze interview data to determine different ways of experiencing a phenomenon. There is an established tradition of phenomenographic research in the study of information literacy (ex: Bruce, 1997; 2008; Lupton, 2008; Webber, Boon, & Johnston, 2005). Drawing from the large body of evidence complied in two decades of research, phenomenographers developed variation theory, which explains what a learner can feasibly learn from a classroom lesson based on how the phenomenon being studied is presented (Marton, Runesson, & Tsui, 2004). Variation theory’s ability to establish the critical conditions necessary for learning to occur has resulted in the use of phenomenographic methods to study classroom interactions by collecting and analyzing naturalistic data through observation, as well as interviews concerning teachers’ intentions and students’ different experiences of classroom lessons. Describing the methodological developments of phenomenography in relation to understanding the classroom experience, this paper discusses the potential benefits and challenges of utilizing such methods to research the experiences of teaching and learning to use information in discipline-focused classrooms. The application of phenomenographic methodology for this purpose is exemplified with an ongoing study that explores how students learned to use information in an undergraduate language and gender course (Maybee, Bruce, Lupton, & Rebmann, in press). This paper suggests that by providing a nuanced understanding of what is intended for students to learn about using information, and relating that to what transpires in the classroom and how students experience these lessons, phenomenography and variation theory offer a viable framework for further understanding and improving how students are taught, and learn to use information.

Experiencing information across the phenomenon of health information literacy

Interest in the concept of information literacy in different contexts is a topic that has steadily gained increased attention in information literacy discourse and research efforts over recent years. In particular the emergence of the term ‘health information literacy’ attests to this interest and has elevated awareness about the importance and relevance of information literacy in a health context. This paper reports on research that has taken a relational perspective to explore how people experience health information literacy. Initially established by Bruce (1997) the relational perspective draws from an experiential framework that emphasizes the relationship between users and information when learning in different contexts. This approach seeks outcomes that are deeply embedded in users’ informational life worlds and complements experiential phenomenological perspectives that have been used in health research. In keeping with the relational approach this research interprets health information literacy as being the different ways in which people experience using information to learn about health. Using interpretive phenomenography, this research explored variation in the lived experience of how people use information to learn about their health, and variation in what is constituted as information when learning about their health. Participants included 23 males and females aged between 45 and 64 years. All participants were residents from the Greater Brisbane area of Queensland, Australia. The research used semi-structured interviews for data collection. The types of questions posed during interviews included ‘Can you describe a time when you used information to learn about your health?’ and ‘What kinds of information have you used to learn about your health?’. This paper will focus on presenting one element of research findings that concerns the differences in ‘what’ participants experienced as information. Analysis of interview data identified significant variation in the experienced nature of information, specifically the different qualities or elements that comprised the ‘object’ of information, or in other words, what was perceived as ‘informing’. Illustrations of this variation include information experienced as traditional information sources, facts and experiences, something exhibiting particular qualities, physical or psychological changes, other people and role models. These findings provide new insights into what people may experience as information, and build upon existing literature regarding information as a theoretical construct. In addition the potential implications of these findings with respect to the design and delivery of health information literacy education will also be discussed. These research findings contribute to the emergence of information literacy investigations in everyday life and community. Although such settings have long been identified as a significant gap for exploration, research to date in this field has predominantly focused on educational and workplace environments. In this way the knowledge gained from this research has further revealed the contextual nature of information literacy, as well as its complexity as a phenomenon and focus of study.

Learning portals : analyzing threshold concept theory for LIS education

This paper explores the theoretical framework of threshold concepts and its potential for LIS education. Threshold concepts are key ideas, often troublesome and counter-intuitive, that are critical to profound understanding of a domain. Once understood, they allow mastery of significant aspects of the domain, opening up new, previously inaccessible ways of thinking. The paper is developed in three parts. First, threshold concept theory is introduced and studies of its use in higher education are described, including emergent work related to LIS. Second, results of a recent study on learning experiences integral to learning to search are presented along with their implications for search expertise and search education, forming a case illustration of what threshold concept theory may contribute to this and other areas of LIS education. Third, the potential of threshold concept theory for LIS education is discussed. The paper concludes that threshold concept theory has much to offer LIS education, particularly for researching critical concepts and competencies, and considerations for a research agenda are put forth.