Localization of type 1 diabetes susceptibility to the MHC class I genes HLA-B and HLA-A

The major histocompatibility complex (MHC) on chromosome 6 is associated with susceptibility to more common diseases than any other region of the human genome, including almost all disorders classified as autoimmune. In type 1 diabetes the major genetic susceptibility determinants have been mapped to the MHC class II genes HLA-DQB1 and HLA-DRB1 (refs 1–3), but these genes cannot completely explain the association between type 1 diabetes and the MHC region4, 5, 6, 7, 8, 9, 10, 11. Owing to the region's extreme gene density, the multiplicity of disease-associated alleles, strong associations between alleles, limited genotyping capability, and inadequate statistical approaches and sample sizes, which, and how many, loci within the MHC determine susceptibility remains unclear. Here, in several large type 1 diabetes data sets, we analyse a combined total of 1,729 polymorphisms, and apply statistical methods—recursive partitioning and regression...

QUT’s research data storage solutions: A launchpad for research journeys

This poster presents key features of how QUT’s integrated research data storage and management services work with researchers through their own individual or team research life cycle. By understanding the characteristics of research data, and the long-term need to store this data, QUT has provided resources and tools that support QUT’s goal of being a research intensive institute. Key to successful delivery and operation has been the focus upon researchers’ individual needs and the collaboration between providers, in particular, Information Technology Services, High Performance Computing and Research Support, and QUT Library. QUT’s Research Data Storage service provides all QUT researchers (staff and Higher Degree Research students (HDRs)) with a secure data repository throughout the research data lifecycle. Three distinct storage areas provide for raw research data to be acquired, project data to be worked on, and published data to be archived. Since the service was launched in late 2014, it has provided research project teams from all QUT faculties with acquisition, working or archival data space. Feedback indicates that the storage suits the unique needs of researchers and their data. As part of the workflow to establish storage space for researchers, Research Support Specialists and Research Data Librarians consult with researchers and HDRs to identify data storage requirements for projects and individual researchers, and to select and implement the most suitable data storage services and facilities. While research can be a journey into the unknown[1], a plan can help navigate through the uncertainty. Intertwined in the storage provision is QUT’s Research Data Management Planning tool. Launched in March 2015, it has already attracted 273 QUT staff and 352 HDR student registrations, and over 620 plans have been created (2/10/2015). Developed in collaboration with Office of Research Ethics and Integrity (OREI), uptake of the plan has exceeded expectations.

Current treatment of Helicobacter pylori infection and peptic ulcer disease

Since the initial report by Warren and Marshall in 1984, Helicobacter pylori has assumed an increasingly important role in the pathogenesis of peptic ulcer disease and gastric carcinoma in all ages. A recent National Institutes of Health Consensus Development conference acknowledges the relationship between H. pylori infection and peptic ulcer disease and recommends that the medical community treat H. pylori infection in all patients with Helicobacter pylori and peptic ulcer. Although the same organism, the response to Helicobacter pylori infection in childhood differs somewhat from that seen in adults. The paediatric patient mounts a different inflammatory response, has different macroscopic appearances and has a markedly diminished peptic ulcer disease frequency compared with their adult counterparts. The appearances of antral nodularity appear to be characteristic of Helicobacter pylori infections. The appearances, however, are unrelated to symptoms and the underlying cause for this nodularity remains obscure. Younger children with peptic ulcer diseases are more likely to be Helicobacter pylori negative. This may suggest an increased susceptibility to gastric acid or possibly a very transient Helicobacter pylori infection rather than the well described lifelong infection without treatment. It is well known that the epidemiology of Helicobacter pylori would suggest that the incidence of infection increases with age. There is also geographical variations with the incidence being higher in countries of a third world background. These epidemiological observations fly in the face of all other infections where the major period of acquisition is in childhood. There has been recent evidence to suggest that in fact the incidence in childhood is decreasing in developed countries which could support the observation that there is a decreasing positive serology with successive decades in some countries. It is felt that the most likely mode of transmission of Helicobacter pylori is faecal to oral or oral to oral route. These are similar modes of transmission to Hepatitis A infections. It is obvious that most infections in childhood remain asymptomatic. It is also clear that there is no relationship between chronic recurrent abdominal pain of childhood syndrome and the presence of Helicobacter pylori infections. It remains to be seen as to who should be treated, what with and when. All of these issues will be discussed in the paper.

Enhancing information about sustainability features for sustainable housing delivery

Sustainability practices in government regulations and within the society influence the delivery of sustainable housing. The actual delivery rate of Australian sustain-able housing is not as high as other countries. There is an absence of engagement by stakeholders in adopting sustainable housing practices. This may be due, in the current Australian property market, to confusion as to what sustainability features should be considered, given the large range of environmental, economic and social sustainability options possible. One of the main problems appears to be that information demanders, especially real estate agents, valuers, insurance agents and mortgage lenders do not include sustainability perspectives in their advice or in their decision processes. Information distribution in the Australian property market is flawed, resulting in a lack of return-on-investment value of ‘green’ features implemented by some stakeholders. This paper reviewed the global sustainable development concept and Australian sustainable assessment methods. This review identified the possibility of a research project which aimed at identifying and integrating different perceptions and priority needs of the information demanders, for developing a model for the potential implementation of sustainability features distribution in the property industry. This research will reduce confusion on the sustainability-related information which can influence the decision making of stakeholders in the supply and demand of sustainable housing.

Understanding Early Childhood Education and Care in Australia: Practices and Perspectives

A foundational text for pre-service teachers explaining the theories, policies and pedagogies that shape the provision of early childhood education and care in Australia. In order to effectively practise as an early childhood educator it is essential to understand the theories, policies and pedagogy that shape the discipline. Understanding Early Childhood Education and Care in Australia provides core foundational knowledge that is critical for best practice. Part One looks at concepts of childhood and the development of mass education before examining influential theories including developmental psychology, sociology, feminisms and critical theory. Specific approaches are also analysed including Reggio Emilia, Montessori, Multiple Intelligences and HighScope. Part Two focuses on the guiding frameworks and policies in Australia and explores in depth issues affecting Indigenous children and provisions for recognising diversity and the practice of inclusion. The final section examines teaching and leadership and considers curriculum, pedagogy and assessment, building relationships between staff and families, the care of babies and infants, the environment in which early childhood education takes place and the responsibilities and professional development of teachers. This essential reference will ensure pre-service teachers develop a sophisticated understanding of how theory underpins effective practice in early childhood education.

Hypnotic inductions: On the persistence of the subject

The article presents the author's response to the article "On Being Agnostic" by James Marshall. She clarifies that her article "Normalizing Foucault? A Rhizomatic Approach to Plateaus in Anglophone Educational Research" focuses on the implication of French philosopher Michel Foucult's ideas for anglophone literature. She mentions propensities discussed in her article including scientize and template theoretical frameworks.

“It puts a human face on the researched”: A qualitative evaluation of an Indigenous research governance model

Objective This study aimed to describe the Inala Aboriginal and Torres Strait Islander Community Jury for Health Research, and evaluate its usefulness as a model of Indigenous research governance within an urban Indigenous primary health care service from the perspectives of Jury members and researchers. Methods Informed by a phenomenological approach and using narrative inquiry, a focus group was conducted with Jury members and key informant interviews were undertaken with researchers who had presented to the Community Jury in its first year of operation. Results The Jury was a site of identity work for researchers and Jury members, providing an opportunity to observe and affirm community cultural protocols. Although researchers and Jury members had differing levels of research literacy, the Jury processes enabled respectful communication and relationships to form which positively influenced research practice, community aspirations and clinical care. Discussion The Jury processes facilitated transformative research practice among researchers, and resulted in transference of power from researchers to the Jury members to the mutual benefit of both. Conclusion Ethical Indigenous health research practice requires an engagement with Indigenous peoples and knowledges at the research governance level, not simply as subjects or objects of research.

‘They rush you and push you too much … and you can't really get any good response off them’: A qualitative examination of family involvement in care of people with dementia in acute care

Aim: To explore the role and needs of the family carer across different acute care contexts and their level of involvement in the care of their relative with dementia in this setting. Method: A pragmatic, exploratory-descriptive qualitative approach. A convenience sample of 30 family carers across three sites completed semi-structured interviews. Results: Family carers wanted to be involved in the acute care of their family member with dementia. They acknowledged the importance of a central source of information, educated staff, guidelines on roles and processes, and positive communication, as well as respect from staff for the carer’s knowledge of the older person and their needs. They also highlighted the need for medical staff to discuss with them the family member’s treatment and care. Conclusion: There is a need for family-focused interventions to improve communication and involvement of family in the care of family members with dementia in the acute setting.

Effect of an interactive therapeutic robotic animal on engagement, mood states, agitation and psychotropic drug use in people with dementia: A cluster-randomised controlled trial protocol

Introduction: Apathy, agitated behaviours, loneliness and depression are common consequences of dementia. This trial aims to evaluate the effect of a robotic animal on behavioural and psychological symptoms of dementia in people with dementia living in long-term aged care. Methods and analysis: A cluster-randomised controlled trial with three treatment groups: PARO (robotic animal), Plush-Toy (non-robotic PARO) or Usual Care (Control). The nursing home sites are Australian Government approved and accredited facilities of 60 or more beds. The sites are located in South-East Queensland, Australia. A sample of 380 adults with a diagnosis of dementia, aged 60 years or older living in one of the participating facilities will be recruited. The intervention consists of three individual 15 min non-facilitated sessions with PARO or Plush- Toy per week, for a period of 10 weeks. The primary outcomes of interest are improvement in agitation, mood states and engagement. Secondary outcomes include sleep duration, step count, change in psychotropic medication use, change in treatment costs, and staff and family perceptions of PARO or Plush-Toy. Video data will be analysed using Noldus XT Pocket Observer; descriptive statistics will be used for participants’ demographics and outcome measures; cluster and individual level analyses to test all hypotheses and Generalised Linear Models for cluster level and Generalised Estimation Equations and/or Multi-level Modeling for individual level data. Ethics and dissemination: The study participants or their proxy will provide written informed consent. The Griffith University Human Research Ethics Committee has approved the study (NRS/03/14/HREC). The results of the study will provide evidence of the efficacy of a robotic animal as a psychosocial treatment for the behavioural and psychological symptoms of dementia. Findings will be presented at local and international conference meetings and published in peer-reviewed journals.

Key ideas, research and challenges in early childhood education and care

The Australian government has recognised the importance of early childhood education and care (ECEC) in recent years. With over one million Australian children accessing early childhood education provision every day (Productivity Commission, 2014), today’s children are a generation who spend a large part of their early years in some form of out-of-home child care. Early chapters in this text have discussed a range of people, theories and approaches that inform the development of ECEC. Early childhood pedagogical practice is an eclectic mix of these ideas. This chapter begins with an overview of the ways young children learn in early childhood education, highlighting play-based learning as a pedagogical response to our understandings about children. Next the chapter outlines areas that have more recently influenced ECEC including international models of early childhood education, neuroscience, studies of young children, economic research and social justice principles. Drawing on the reflections of educators working in various ECEC contexts, the chapter then presents four topics encountered by educators as part of their everyday work with diverse communities. These topics include: • the educational program for children in the early years • relationships and partnerships with diverse families • professional accountabilities, and • changing constructions of childhood.

Introduction

Australian perspectives and practices within early childhood education and care are underpinned by understandings of children, how they learn, their emotional and physical needs and their connectedness to family and their communities. There is strong international research evidence supporting the value of providing high quality and accessible early childhood education and care, and this evidence base continues to grow. Drawing on international and Australian research, this book provides an introduction to this complex and multifaceted field.

New genetic loci link adipose and insulin biology to body fat distribution

Body fat distribution is a heritable trait and a well-established predictor of adverse metabolic outcomes, independent of overall adiposity. To increase our understanding of the genetic basis of body fat distribution and its molecular links to cardiometabolic traits, here we conduct genome-wide association meta-analyses of traits related to waist and hip circumferences in up to 224,459 individuals. We identify 49 loci (33 new) associated with waist-to-hip ratio adjusted for body mass index (BMI), and an additional 19 loci newly associated with related waist and hip circumference measures (P < 5 × 10−8). In total, 20 of the 49 waist-to-hip ratio adjusted for BMI loci show significant sexual dimorphism, 19 of which display a stronger effect in women. The identified loci were enriched for genes expressed in adipose tissue and for putative regulatory elements in adipocytes. Pathway analyses implicated adipogenesis, angiogenesis, transcriptional regulation and insulin resistance as processes affecting fat distribution, providing insight into potential pathophysiological mechanisms.

Genetic studies of body mass index yield new insights for obesity biology

Obesity is heritable and predisposes to many diseases. To understand the genetic basis of obesity better, here we conduct a genome-wide association study and Metabochip meta-analysis of body mass index (BMI), a measure commonly used to define obesity and assess adiposity, in up to 339,224 individuals. This analysis identifies 97 BMI-associated loci (P < 5 × 10−8), 56 of which are novel. Five loci demonstrate clear evidence of several independent association signals, and many loci have significant effects on other metabolic phenotypes. The 97 loci account for ~2.7% of BMI variation, and genome-wide estimates suggest that common variation accounts for >20% of BMI variation. Pathway analyses provide strong support for a role of the central nervous system in obesity susceptibility and implicate new genes and pathways, including those related to synaptic function, glutamate signalling, insulin secretion/action, energy metabolism, lipid biology and adipogenesis.

FTO genotype is associated with phenotypic variability of body mass index

There is evidence across several species for genetic control of phenotypic variation of complex traits1, 2, 3, 4, such that the variance among phenotypes is genotype dependent. Understanding genetic control of variability is important in evolutionary biology, agricultural selection programmes and human medicine, yet for complex traits, no individual genetic variants associated with variance, as opposed to the mean, have been identified. Here we perform a meta-analysis of genome-wide association studies of phenotypic variation using ~170,000 samples on height and body mass index (BMI) in human populations. We report evidence that the single nucleotide polymorphism (SNP) rs7202116 at the FTO gene locus, which is known to be associated with obesity (as measured by mean BMI for each rs7202116 genotype)5, 6, 7, is also associated with phenotypic variability. We show that the results are not due to scale effects or other artefacts, and find no other experiment-wise significant evidence for effects on variability, either at loci other than FTO for BMI or at any locus for height. The difference in variance for BMI among individuals with opposite homozygous genotypes at the FTO locus is approximately 7%, corresponding to a difference of ~0.5 kilograms in the standard deviation of weight. Our results indicate that genetic variants can be discovered that are associated with variability, and that between-person variability in obesity can partly be explained by the genotype at the FTO locus. The results are consistent with reported FTO by environment interactions for BMI8, possibly mediated by DNA methylation9, 10. Our BMI results for other SNPs and our height results for all SNPs suggest that most genetic variants, including those that influence mean height or mean BMI, are not associated with phenotypic variance, or that their effects on variability are too small to detect even with samples sizes greater than 100,000.