Genetics of menstrual migraine : the molecular evidence

Migraine is considered to be a multifactorial disorder in which genetic, environmental, and, in the case of menstrual and menstrually related migraine, hormonal events influence the phenotype. Certainly, the role of female sex hormones in migraine has been well established, yet the mechanism behind this well-known relationship remains unclear. This review focuses on the potential role of hormonally related genes in migraine, summarizes results of candidate gene studies to date, and discusses challenges and issues involved in interpreting hormone-related gene results. In light of the molecular evidence presented, we discuss future approaches for analysis with the view to elucidate the complex genetic architecture that underlies the disorder.

A genome-wide scan provides evidence for loci influencing a severe heritable form of common migraine

Migraine is a prevalent neurovascular disease with a significant genetic component. Linkage studies have so far identified migraine susceptibility loci on chromosomes 1, 4, 6, 11, 14, 19 and X. We performed a genome-wide scan of 92 Australian pedigrees phenotyped for migraine with and without aura and for a more heritable form of “severe” migraine. Multipoint non-parametric linkage analysis revealed suggestive linkage on chromosome 18p11 for the severe migraine phenotype (LOD*=2.32, P=0.0006) and chromosome 3q (LOD*=2.28, P=0.0006). Excess allele sharing was also observed at multiple different chromosomal regions, some of which overlap with, or are directly adjacent to, previously implicated migraine susceptibility regions. We have provided evidence for two loci involved in severe migraine susceptibility and conclude that dissection of the “migraine” phenotype may be helpful for identifying susceptibility genes that influence the more heritable clinical (symptom) profiles in affected pedigrees. Also, we concluded that the genetic aetiology of the common (International Headache Society) forms of the disease is probably comprised of a number of low to moderate effect susceptibility genes, perhaps acting synergistically, and this effect is not easily detected by traditional single-locus linkage analyses of large samples of affected pedigrees.

How distributional preferences shape incentives on (experimental) markets for credence goods

Credence goods markets suffer from inefficiencies caused by superior information of sellers about the surplus-maximizing quality. While standard theory predicts that equal mark-up prices solve the credence goods problem if customers can verify the quality received, experimental evidence indicates the opposite. We identify a lack of robustness of institutional design with respect to heterogeneity in distributional preferences as a possible cause and design new experiments that allow for parsimonious identification of sellers’ distributional types. Our results indicate that less than a fourth of the subjects behave according to standard theory’s assumption, the rest behaving either in line with non-standard selfish or in accordance with non-trivial other-regarding preferences. We discuss consequences of our findings for institutional design and agent selection.

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.

Phenotypic changes in artemisinin-resistant plasmodium falciparum lines in vitro: evidence for decreased sensitivity to dormancy and growth inhibition

The appearance of Plasmodium falciparum parasites with decreased in vivo sensitivity but no measurable in vitro resistance to artemisinin has raised the urgent need to characterize the artemisinin resistance phenotype. Changes in the temporary growth arrest (dormancy) profile of parasites may be one aspect of this phenotype. In this study, we investigated the link between dormancy and resistance, using artelinic acid (AL)-resistant parasites. Our results demonstrate that the AL resistance phenotype has (i) decreased sensitivity of mature-stage parasites, (ii) decreased sensitivity of the ring stage to the induction of dormancy, and (iii) a faster recovery from dormancy.

Heterogeneity evidence and linkage studies on Charcot-Marie-Tooth disease

Charcot-Marie-Tooth neuropathy type 1 (CMT1) is an autosomal dominant disorder originally localized to chromosome 1 by linkage to the Duffy blood group. Studies have since shown that the disorder may be heterogeneous, as not all families show this linkage. We tested genetic heterogeneity by the HOMOG computer program in 15 CMT1 pedigrees informative for Duffy. We detected no evidence for heterogeneity in this sample, but when we combined results with previously published lod scores, heterogeneity was statistically significant. Twelve of the 15 families studied did not show linkage to Duffy. We found six of these families to be informative for a chromosome 19 marker, apolipoprotein CII(ApoC2). Despite a previous report showing probable linkage of a non-Duffy-linked CMT1 pedigree to two chromosome 19 markers, we did not detect significant linkage of ApoC2 to CMT1 in these families.

School libraries and teacher-librarians : evidence of their contribution to student literacy and learning

International research provides compelling evidence that school libraries and teacher-librarians make a significant contribution to student literacy and learning outcomes. After summarising previous research, this article presents recent research focused on Gold Coast schools. These new Australian findings present an evidenced based snapshot of school libraries and teacher-librarians, from the principals’ perspective. They indicate that school NAPLAN scores for reading and writing were generally higher when student-to-library staff ratios were lower (i.e. better) and when the school employed a teacher-librarian. In light of the National Plan for School Improvement, the findings are of potential interest to education authorities, policy makers, school leadership teams, teacher-librarians, teachers, parents and researchers. They offer evidence to inform policy development and strategic planning for school libraries and professional staffing.

Familial typical migraine: Linkage to chromosome 19p13 and evidence for genetic heterogeneity

Migraine is a frequent familial disorder that, in common with most multifactorial disorders, has an unknown etiology. The authors identified several families with multiple individuals affected by typical migraine using a single set of diagnostic criteria and studied these families for cosegregation between the disorder and markers on chromosome 19, the location of a mutation that causes a rare form of familial hemiplegic migraine (FHM). One large tested family showed both cosegregation and significant allele sharing for markers situated within or adjacent to the FHM locus. Multipoint GENEHUNTER results indicated significant excess allele sharing across a 12.6- cM region containing the FHM Ca2+ channel gene, CACNL1A4 (maximum nonparametric linkage Z score = 6.64, p = 0.0026), with a maximum parametric lod score of 1.92 obtained for a (CAG)(n) triplet repeat polymorphism situated in exon 47 of this gene. The CAG expansion did not, however, appear to be the cause of migraine in this pedigree. Other tested families showed neither cosegregation nor excess allele sharing to chromosome 19 markers. HOMOG analysis indicated heterogeneity, generating a maximum HLOD score of 3.6. It was concluded that Chr19 mutations either in the CACNL1A4 gene or a closely linked gene are implicated in some pedigrees with familial typical migraine, and that the disorder is genetically heterogeneous.

Evidence for allelic association of the dopamine β-hydroxylase gene (DBH) with susceptibility to typical migraine

Migraine is a debilitating neurological disorder characterized by recurrent attacks of severe headache. The disorder is highly prevalent, affecting approximately 12% of Caucasian populations. It is well known that migraine has a strong genetic component, although the type and number of genes involved is not yet clear. However, the calcium channel gene, CACNA1A, on chromosome 19 contains mutations responsible for familial hemiplegic migraine, a rare and severe subtype of migraine. There is also evidence to suggest that serotonin- and dopamine-related genes may be involved in the pathogenesis of migraine. This study employed a linkage and association approach to investigate neurotransmitter-related migraine candidate genes. Polymorphisms within the dopamine beta-hydroxylase (DBH) gene, serotonin transporter gene (SERT), and dopamine receptor gene (DRD2) were tested in 177 unrelated Caucasian migraineurs and 182 control individuals. In addition, an independent sample of 82 families affected with migraine was examined. Unrelated case-control association analysis of a DBH intragenic dinucleotide polymorphism indicated altered allelic distribution between migraine and control groups (L2=16.53, P=0.019). Furthermore, the transmission/disequilibrium test, which was implemented on the family data, also indicated distortion of allele transmission for the same DBH marker (L2=4.44, P=0.035). Together, these results provide evidence for allelic association of the DBH gene with typical migraine susceptibility (Fisher's combined P value=0.006) and indicate that further research into the role of the DBH gene in the etiology of migraine is warranted.

Submission to expert panel on constitutional recognition of Indigenous people

Submission recommended addition of a new 'self-enacting' preamble and enacting words to the Commownealth Constitution, and replacement of the 'race power' by a series of more specific powers relating to the recognition of native title and laws of the indigenous people.

Acquiring search expertise : learning experiences and threshold concepts

Expert searchers engage with information as information brokers, researchers, reference librarians, information architects, faculty who teach advanced search, and in a variety of other information-intensive professions. Their experiences are characterized by a profound understanding of information concepts and skills and they have an agile ability to apply this knowledge to interacting with and having an impact on the information environment. This study explored the learning experiences of searchers to understand the acquisition of search expertise. The research question was: What can be learned about becoming an expert searcher from the learning experiences of proficient novice searchers and highly experienced searchers? The key objectives were: (1) to explore the existence of threshold concepts in search expertise; (2) to improve our understanding of how search expertise is acquired and how novice searchers, intent on becoming experts, can learn to search in more expertlike ways. The participant sample drew from two population groups: (1) highly experienced searchers with a minimum of 20 years of relevant professional experience, including LIS faculty who teach advanced search, information brokers, and search engine developers (11 subjects); and (2) MLIS students who had completed coursework in information retrieval and online searching and demonstrated exceptional ability (9 subjects). Using these two groups allowed a nuanced understanding of the experience of learning to search in expertlike ways, with data from those who search at a very high level as well as those who may be actively developing expertise. The study used semi-structured interviews, search tasks with think-aloud narratives, and talk-after protocols. Searches were screen-captured with simultaneous audio-recording of the think-aloud narrative. Data were coded and analyzed using NVivo9 and manually. Grounded theory allowed categories and themes to emerge from the data. Categories represented conceptual knowledge and attributes of expert searchers. In accord with grounded theory method, once theoretical saturation was achieved, during the final stage of analysis the data were viewed through lenses of existing theoretical frameworks. For this study, threshold concept theory (Meyer & Land, 2003) was used to explore which concepts might be threshold concepts. Threshold concepts have been used to explore transformative learning portals in subjects ranging from economics to mathematics. A threshold concept has five defining characteristics: transformative (causing a shift in perception), irreversible (unlikely to be forgotten), integrative (unifying separate concepts), troublesome (initially counter-intuitive), and may be bounded. Themes that emerged provided evidence of four concepts which had the characteristics of threshold concepts. These were: information environment: the total information environment is perceived and understood; information structures: content, index structures, and retrieval algorithms are understood; information vocabularies: fluency in search behaviors related to language, including natural language, controlled vocabulary, and finesse using proximity, truncation, and other language-based tools. The fourth threshold concept was concept fusion, the integration of the other three threshold concepts and further defined by three properties: visioning (anticipating next moves), being light on one's 'search feet' (dancing property), and profound ontological shift (identity as searcher). In addition to the threshold concepts, findings were reported that were not concept-based, including praxes and traits of expert searchers. A model of search expertise is proposed with the four threshold concepts at its core that also integrates the traits and praxes elicited from the study, attributes which are likewise long recognized in LIS research as present in professional searchers. The research provides a deeper understanding of the transformative learning experiences involved in the acquisition of search expertise. It adds to our understanding of search expertise in the context of today's information environment and has implications for teaching advanced search, for research more broadly within library and information science, and for methodologies used to explore threshold concepts.

A cross-discipline and collaborative approach to identifying the predictors of environmentally friendly and health protective behaviour

Background. As a society, our interaction with the environment is having a negative impact on human health. For example, an increase in car use for short trips, over walking or cycling, has contributed to an increase in obesity, diabetes and poor heart health and also contributes to pollution, which is associated with asthma and other respiratory diseases. In order to change the nature of that interaction, to be more positive and healthy, it is recommended that individuals adopt a range of environmentally friendly behaviours (such as walking for transport and reducing the use of plastics). Effective interventions aimed at increasing such behaviours will need to be evidence based and there is a need for the rapid communication of information from the point of research, into policy and practice. Further, a number of health disciplines, including psychology and public health, share a common mission to promote health and well-being. Therefore, the objective of this project is to take a cross-discipline and collaborative approach to reveal psychological mechanisms driving environmentally friendly behaviour. This objective is further divided into three broad aims, the first of which is to take a cross-discipline and collaborative approach to research. The second aim is to explore and identify the salient beliefs which most strongly predict environmentally friendly behaviour. The third aim is to build an augmented model to explain environmentally friendly behaviour. The thesis builds on the understanding that an interdisciplinary collaborative approach will facilitate the rapid transfer of knowledge to inform behaviour change interventions. Methods. The application of this approach involved two surveys which explored the psycho-social predictors of environmentally friendly behaviour. Following a qualitative pilot study, and in collaboration with an expert panel comprising academics, industry professionals and government representatives, a self-administered, Theory of Planned Behaviour (TPB) based, mail survey was distributed to a random sample of 3000 residents of Brisbane and Moreton Bay Region (Queensland, Australia). This survey explored specific beliefs including attitudes, norms, perceived control, intention and behaviour, as well as environmental altruism and green identity, in relation to walking for transport and switching off lights when not in use. Following analysis of the mail survey data and based on feedback from participants and key stakeholders, an internet survey was employed (N=451) to explore two additional behaviours, switching off appliances at the wall when not in use, and shopping with reusable bags. This work is presented as a series of interrelated publications which address each of the research aims. Presentation of Findings. Chapter five of this thesis consists of a published paper which addresses the first aim of the research and outlines the collaborative and multidisciplinary approach employed in the mail survey. The paper argued that forging alliances with those who are in a position to immediately utilise the findings of research has the potential to improve the quality and timely communication of research. Illustrating this timely communication, Chapter six comprises a report presented to Moreton Bay Regional Council (MBRC). This report addresses aim's one and two. The report contains a summary of participation in a range of environmentally friendly behaviours and identifies the beliefs which most strongly predicted walking for transport and switching off lights (from the mail survey). These salient beliefs were then recommended as targets for interventions and included: participants believing that they might save money; that their neighbours also switch off lights; that it would be inconvenient to walk for transport and that their closest friend also walks for transport. Chapter seven also addresses the second aim and presents a published conference paper in which the salient beliefs predicting the four specified behaviours (from both surveys) are identified and potential applications for intervention are discussed. Again, a range of TPB based beliefs, including descriptive normative beliefs, were predictive of environmentally friendly behaviour. This paper was also provided to MBRC, along with recommendations for applying the findings. For example, as descriptive normative beliefs were consistently correlated with environmentally friendly behaviour, local councils could engage in marketing and interventions (workshops, letter box drops, internet promotions) which encourage parents and friends to model, rather than simply encourage, environmentally friendly behaviour. The final two papers, presented in Chapters eight and nine, addresses the third aim of the project. These papers each present two behaviours together to inform a TPB based theoretical model with which to predict environmentally friendly behaviour. A generalised model is presented, which is found to predict the four specific behaviours under investigation. The role of demographics was explored across each of the behaviour specific models. It was found that some behaviour's differ by age, gender, income or education. In particular, adjusted models predicted more of the variance in walking for transport amongst younger participants and females. Adjusted models predicted more variance in switching off lights amongst those with a bachelor degree or higher and predicted more variance in switching off appliances amongst those on a higher income. Adjusted models predicted more variance in shopping with reusable bags for males, people 40 years or older, those on a higher income and those with a bachelor degree or higher. However, model structure and general predictability was relatively consistent overall. The models provide a general theoretical framework from which to better understand the motives and predictors of environmentally friendly behaviour. Conclusion. This research has provided an example of the benefits of a collaborative interdisciplinary approach. It has identified a number of salient beliefs which can be targeted for social marketing campaigns and educational initiatives; and these findings, along with recommendations, have been passed on to a local council to be used as part of their ongoing community engagement programs. Finally, the research has informed a practical model, as well as behaviour specific models, for predicting sustainable living behaviours. Such models can highlight important core constructs from which targeted interventions can be designed. Therefore, this research represents an important step in undertaking collaborative approaches to improving population health through human-environment interactions.

Asset allocation policy, returns and expenses of superannuation funds : recent evidence based on default options

We examine the asset allocation, returns, and expenses of superannuation funds whose assets are mainly invested in default investment options between 2004 and 2012. A majority of these funds fail to earn returns commensurate with their strategic asset allocation policy. It appears that much of the variation of returns between the funds might be a result of their engaging in significant active management of assets. Our results indicate that returns from active management are negatively related to expenses. We also find strong evidence of economies of scale existing in these superannuation funds across different size categories.

Do palliative care health professionals settle for low level evidence?

The findings of the recent independent review of the UK Liverpool Care Pathway (LCP)1, following substantial concerns raised by members of the public and health professionals found that the implementation of the LCP is often associated with poor care1. The Neuberger Report highlighted the complexity of various ethical, safety, clinical practice and negligence issues associated with pathway usage and how, despite technological advances, diagnosing dying continues to be challenging. The UK Government’s decision to phase out the LCP as policy following these findings, has generated considerable debate both within and beyond the UK. However, another key issue raised by the Neuberger’s report is the issue of the palliative care community’s perceived willingness to readily adopt new clinical practices in the absence of evidence. It is this translational issue that this editorial explores.

How can Australia sustain middle school education?

Middle school is a crucial area of education where adolescents experiencing physiological and psychological changes, and require expert guidance. As more research evidence is provided about adolescent learning, teachers are considered pivotal to adolescents’ educational development. Reform measures need to be targeted at the inservice and preservice teacher levels. This quantitative study employs a 40-item, five part Likert scale survey to understand preservice teachers’ (n = 142) perceptions of their confidence to teach in a middle school at the conclusion of their tertiary education. The survey instrument was developed from the literature, with connections to the Queensland College of Teachers' professional standards. Results indicated that they perceived themselves as capable of creating a positive classroom environment with seven items greater than 80%, except with behaviour management (< 80% for two items), and they considered their pedagogical knowledge to be adequate (i.e., 7 out of 8 items > 84%). Items associated with implementing a middle school curriculum had varied responses (e.g., implementing literacy and numeracy were 74%, while implementing learning with real world connections was 91%). This information may assist coursework designers. For example, if a significant percentages of preservice teachers indicate that they believe they were not well prepared for assessment and reporting at the middle school level, then course designers can target these areas more effectively.