Genome-wide association study identifies a new melanoma susceptibility locus at 1q21.3

We performed a genome-wide association study of melanoma in a discovery cohort of 2,168 Australian individuals with melanoma and 4,387 control individuals. In this discovery phase, we confirm several previously characterized melanoma-associated loci at MC1R, ASIP and MTAP-CDKN2A. We selected variants at nine loci for replication in three independent case-control studies (Europe: 2,804 subjects with melanoma, 7,618 control subjects; United States 1: 1,804 subjects with melanoma, 1,026 control subjects; United States 2: 585 subjects with melanoma, 6,500 control subjects). The combined meta-analysis of all case-control studies identified a new susceptibility locus at 1q21.3 (rs7412746, P = 9.0 x 10(-11), OR in combined replication cohorts of 0.89 (95% CI 0.85-0.95)). We also show evidence suggesting that melanoma associates with 1q42.12 (rs3219090, P = 9.3 x 10(-8)). The associated variants at the 1q21.3 locus span a region with ten genes, and plausible candidate genes for melanoma susceptibility include ARNT and SETDB1. Variants at the 1q21.3 locus do not seem to be associated with human pigmentation or measures of nevus density.

The missing link of crime analysis: A systematic approach to testing competing hypotheses

Crime analysts have traditionally received little guidance from academic researchers in key tasks in the analysis process, specifically the testing of multiple hypotheses and evaluating evidence in a scientific fashion. This article attempts to fill this gap by outlining a method (the Analysis of Competing Hypotheses) of systematically analysing multiple explanations for crime problems. The method is systematic, avoids many cognitive errors common in analysis, and is explicit. It is argued that the implementation of this approach makes analytic products audit-able, the reasoning underpinning them transparent, and provides intelligence managers a rational professional development tool for individual analysts.

Capturing "organised crime" in Australian Law

This briefing paper presents and foreshadows ongoing PhD research by the first author into how understandings of organised crime in Australia have been shaped, and the extent to which these perceptions have influenced legislative and policing responses. It begins with an historical survey of significant models of organised crime, then reviews current Australian legislative strategies, and goes on to raise questions about the conceptual model that underpins these strategies. The paper concludes with a discussion of the potential policy implications of this research.

Recent developments in DNA evidence

DNA evidence has made a significant contribution to criminal investigations in Australia and around the world since it was widely adopted in the 1990s (Gans & Urbas 2002). The direct matching of DNA profiles, such as comparing one obtained from a crime scene with one obtained from a suspect or database, remains a widely used technique in criminal investigations. A range of new DNA profiling techniques continues to be developed and applied in criminal investigations around the world (Smith & Urbas 2012). This paper is the third in a series by the Australian Institute of Criminology (AIC) on DNA evidence. The first, published in 1990 when the technology was in its relative infancy, outlined the scientific background for DNA evidence, considered early issues such as scientific reliability and privacy and described its application in early criminal cases (Easteal & Easteal 1990). The second, published in 2002, expanded on the scientific background and discussed a significant number of Australian cases in a 12-year period, illustrating issues that had arisen in investigations, at trial and in the use of DNA in the review of convictions and acquittals (Gans & Urbas 2002). There have been some significant developments in the science and technology behind DNA evidence in the 13 years since 2002 that have important implications for law enforcement and the legal system. These are discussed through a review of relevant legal cases and the latest empirical evidence. This paper is structured in three sections. The first examines the scientific techniques and how they have been applied in police investigations, drawing on a number of recent cases to illustrate them. The second considers empirical research evaluating DNA evidence and databases and the impact DNA has on investigative and court outcomes. The final section discusses significant cases that establish legal precedent relating to DNA evidence in criminal trials where significant issues have arisen or new techniques have been applied that have not yet been widely discussed in the literature. The paper concludes by reflecting on implications for policy and practice.

A Story of Organized Crime: Constructing Criminality and Building Institutions

This is a narrative about the way in which a category of crime-to-be-combated is constructed through the discipline of criminology and the agents of discipline in criminal justice. The aim was to examine organized crime through the eyes of those whose job it is to fight it (and define it), and in doing so investigate the ways social problems surface as sites for state intervention. A genealogy of organized crime within criminological thought was completed, demonstrating that there are a range of different ways organized crime has been constructed within the social scientific discipline, and each of these were influenced by the social context, political winds and intellectual climate of the time. Following this first finding, in-depth qualitative interviews were conducted with individuals who had worked at the apex of the policing of organized crime in Australia, in order to trace their understandings of organized crime across recent history. It was found that organized crime can be understood as an object of the discourse of the politics of law and order, the discourse of international securitization, new public management in policing business, and involves the forging of outlaw identities. Therefore, there are multiple meanings of organized crime that have arisen from an interconnected set of social, political, moral and bureaucratic discourses. The institutional response to organized crime, including law and policing, was subsequently examined. An extensive legislative framework has been enacted at multiple jurisdictional levels, and the problem of organized crime was found to be deserving of unique institutional powers and configurations to deal with it. The social problem of organized crime, as constituted by the discourses mapped out in this research, has led to a new generation of increasingly preemptive and punitive laws, and the creation of new state agencies with amplified powers. That is, the response to organized crime, with a focus on criminalization and enforcement, has been driven and shaped by the four discourses and the way in which the phenomenon is constructed within them. An appreciation of the nexus between the emergence of the social problem, and the formation of institutions in response to it, is important in developing a more complete understanding of the various dimensions of organized crime.

Dominant negative ATM mutations in breast cancer families

BACKGROUND: The ATM gene encoding a putative protein kinase is mutated in ataxia-telangiectasia (A-T), an autosomal recessive disorder with a predisposition for cancer. Studies of A-T families suggest that female heterozygotes have an increased risk of breast cancer compared with noncarriers. However, neither linkage analyses nor mutation studies have provided supporting evidence for a role of ATM in breast cancer predisposition. Nevertheless, two recurrent ATM mutations, T7271G and IVS10-6T-->G, reportedly increase the risk of breast cancer. We examined these two ATM mutations in a population-based, case-control series of breast cancer families and multiple-case breast cancer families. METHODS: Five hundred twenty-five or 262 case patients with breast cancer and 381 or 68 control subjects, respectively, were genotyped for the T7271G and IVS10-6T-->G ATM mutations, as were index patients from 76 non-BRCA1/2 multiple-case breast cancer families. Linkage and penetrance were analyzed. ATM protein expression and kinase activity were analyzed in lymphoblastoid cell lines from mutation carriers. All statistical tests were two-sided. RESULTS: In case and control subjects unselected for family history of breast cancer, one case patient had the T7271G mutation, and none had the IVS10-6T-->G mutation. In three multiple-case families, one of these two mutations segregated with breast cancer. The estimated average penetrance of the mutations was 60% (95% confidence interval [CI] = 32% to 90%) to age 70 years, equivalent to a 15.7-fold (95% CI = 6.4-fold to 38.0-fold) increased relative risk compared with that of the general population. Expression and activity analyses of ATM in heterozygous cell lines indicated that both mutations are dominant negative. CONCLUSION: At least two ATM mutations are associated with a sufficiently high risk of breast cancer to be found in multiple-case breast cancer families. Full mutation analysis of the ATM gene in such families could help clarify the role of ATM in breast cancer susceptibility.

Supporting sleep in early care and education: An assessment of observed sleep-times using a sleep practices optimality index

Aim: The aim was to investigate whether the sleep practices in early childhood education (ECE) settings align with current evidence on optimal practice to support sleep. Background: Internationally, scheduled sleep times are a common feature of daily schedules in ECE settings, yet little is known about the degree to which care practices in these settings align with the evidence regarding appropriate support of sleep. Methods: Observations were conducted in 130 Australian ECE rooms attended by preschool children (Mean = 4.9 years). Of these rooms, 118 had daily scheduled sleep times. Observed practices were scored against an optimality index, the Sleep Environment and Practices Optimality Score, developed with reference to current evidence regarding sleep scheduling, routines, environmental stimuli, and emotional climate. Cluster analysis was applied to identify patterns and prevalence of care practices in the sleep time. Results: Three sleep practices types were identified. Supportive rooms (36%) engaged in practices that maintained regular schedules, promoted routine, reduced environmental stimulation, and maintained positive emotional climate. The majority of ECE rooms (64%), although offering opportunity for sleep, did not engage in supportive practices: Ambivalent rooms (45%) were emotionally positive but did not support sleep; Unsupportive rooms (19%) were both emotionally negative and unsupportive in their practices. Conclusions: Although ECE rooms schedule sleep time, many do not adopt practices that are supportive of sleep. Our results underscore the need for education about sleep supporting practice and research to ascertain the impact of sleep practices in ECE settings on children’s sleep health and broader well-being.

Reduced withdrawal and failure rates of accelerated nursing students enrolled in pharmacology is associated with a supportive intervention

Background To reduce nursing shortages, accelerated nursing programs are available for domestic and international students. However, the withdrawal and failure rates from these programs may be different than for the traditional programs. The main aim of our study was to improve the retention and experience of accelerated nursing students. Methods The academic background, age, withdrawal and failure rates of the accelerated and traditional students were determined. Data from 2009 and 2010 were collected prior to intervention. In an attempt to reduce the withdrawal of accelerated students, we set up an intervention, which was available to all students. The assessment of the intervention was a pre-post-test design with non-equivalent groups (the traditional and the accelerated students). The elements of the intervention were a) a formative website activity of some basic concepts in anatomy, physiology and pharmacology, b) a workshop addressing study skills and online resources, and c) resource lectures in anatomy/physiology and microbiology. The formative website and workshop was evaluated using questionnaires. Results The accelerated nursing students were five years older than the traditional students (p < 0.0001). The withdrawal rates from a pharmacology course are higher for accelerated nursing students, than for traditional students who have undertaken first year courses in anatomy and physiology (p = 0.04 in 2010). The withdrawing students were predominantly the domestic students with non-university qualifications or equivalent experience. The failure rates were also higher for this group, compared to the traditional students (p = 0.05 in 2009 and 0.03 in 2010). In contrast, the withdrawal rates for the international and domestic graduate accelerated students were very low. After the intervention, the withdrawal and failure rates in pharmacology for domestic accelerated students with non-university qualifications were not significantly different than those of traditional students. Conclusions The accelerated international and domestic graduate nursing students have low withdrawal rates and high success rates in a pharmacology course. However, domestic students with non-university qualifications have higher withdrawal and failure rates than other nursing students and may be underprepared for university study in pharmacology in nursing programs. The introduction of an intervention was associated with reduced withdrawal and failure rates for these students in the pharmacology course.

School policies on bullying and cyberbullying: Perspectives across three Australian states

Background Despite decades of research, bullying in all its forms is still a significant problem within schools in Australia, as it is internationally. Anti-bullying policies and guidelines are thought to be one strategy as part of a whole school approach to reduce bullying. However, although Australian schools are required to have these policies, their effectiveness is not clear. As policies and guidelines about bullying and cyberbullying are developed within education departments, this paper explores the perspectives of those who are involved in their construction. Purpose This study examined the perspectives of professionals involved in policy construction, across three different Australian states. The aim was to determine how their relative jurisdictions define bullying and cyberbullying, the processes for developing policy, the bullying prevention and intervention recommendations given to schools and the content considered essential in current policies. Sample Eleven key stakeholders from three Australian states with similar education systems were invited to participate. The sample selection criteria included professionals with experience and training in education, cyber-safety and the responsibility to contribute to or make decisions which inform policy in this area for schools in their state. Design and methods Participants were interviewed about the definitions of bullying they used in their state policy frameworks; the extent to which cyberbullying was included; and the content they considered essential for schools to include in anti-bullying policies. Data were collected through in-depth, semi-structured interviews and analysed thematically. Findings Seven themes were identified in the data: - (1) Definition of bullying and cyberbullying; - (2) Existence of a policy template; - (3) Policy location; - (4) Adding cyberbullying; - (5) Distinguishing between bullying and cyberbullying; - (6) Effective policy, and; - (7) Policy as a prevention or intervention tool. The results were similar both across state boundaries and also across different disciplines. Conclusion Analysis of the data suggested that, across the themes, there was some lack of information about bullying and cyberbullying. This limitation could affect the subsequent development, dissemination and sustainability of school anti-bullying policies, which have implications for the translation of research to inform better student outcomes.

Placental infection with Ureaplasma species is associated with histologic chorioamnionitis and adverse outcomes in moderately preterm and late-preterm infants

Objective The human Ureaplasma species are the microbes most frequently isolated from placentae of women who deliver preterm. The role of Ureaplasma species has been investigated in pregnancies at <32 weeks of gestation, but currently no studies have determined the prevalence of ureaplasmas in moderately preterm and late-preterm (hereafter, “moderate/late preterm”) infants, the largest cohort of preterm infants. Methods Women delivering moderate/late preterm infants (n = 477) and their infants/placentae (n = 535) were recruited, and swab specimens of chorioamnion tissue, chorioamnion tissue specimens, and cord blood specimens were obtained at delivery. Swab and tissue specimens were cultured and analyzed by 16S ribosomal RNA polymerase chain reaction (PCR) for the presence of microorganisms, while cord blood specimens were analyzed for the presence of cytokines, chemokines, and growth factors. Results We detected microorganisms in 10.6% of 535 placentae (443 were delivered late preterm and 92 were delivered at term). Significantly, Ureaplasma species were the most prevalent microorganisms, and their presence alone was associated with histologically confirmed chorioamnionitis in moderate/late preterm and term placentae (P < .001). The presence of ureaplasmas in the chorioamnion was also associated with elevated levels of granulocyte colony-stimulating factor (P = .02). Conclusions These findings have important implications for infection and adverse pregnancy outcomes throughout gestation and should be of major consideration for obstetricians and neonatologists.

Designing for collections : Building histories, sharing the spectacle

The hobby of collecting represents the passionate acquisition and possession of a specific type(s) of object; creating a ‘spectacle’, to be shared with others. The fundamentality of the physical objects in collections against the backdrop of the growing ubiquity of computing provides a unique and compelling avenue for design. Based on interviews with 11 self-identified collectors, this paper discusses the role collectors have in informing HCI design and in turn, the potential HCI has in designing technology to assist collectors in sharing what we term the ‘spectacle’ of collecting. Toward this, we suggest two ideas for future designs, including building personal histories of individual collectable items and developing a simple digital means of connecting proximate collectors with those who stand to benefit from collectors’ unique and item-specific knowledge.

Measuring cost and affordability of healthy and less healthy diet globally

The INFORMAS food prices module proposes a step-wise framework to measure the cost and affordability of population diets. The price differential and the tax component of healthy and less healthy foods, food groups, meals and diets will be benchmarked and monitored over time. Results can be used to model or assess the impact of fiscal policies, such as ‘fat taxes’ or subsidies. Key methodological challenges include: defining healthy and less healthy foods, meals, diets and commonly consumed items; including costs of alcohol, takeaways, convenience foods and time; selecting the price metric; sampling frameworks; and standardizing collection and analysis protocols. The minimal approach uses three complementary methods to measure the price differential between pairs of healthy and less healthy foods. Specific challenges include choosing policy relevant pairs and defining an anchor for the lists. The expanded approach measures the cost of a healthy diet compared to the current (less healthy) diet for a reference household. It requires dietary principles to guide the development of the healthy diet pricing instrument and sufficient information about the population’s current intake to inform the current (less healthy) diet tool. The optimal approach includes measures of affordability and requires a standardised measure of household income that can be used for different countries. The feasibility of implementing the protocol in different countries is being tested in New Zealand, Australia and Fiji. The impact of different decision points to address challenges will be investigated in a systematic manner. We will present early insights and results from this work.

Food price and affordability update

This presentation outlines recent achievements in development of tools, protocols and methods to monitoring and benchmark food prices and affordability globally under International Network for Food and Obesity/non-communicable diseases Research, Monitoring and Action Support(INFORMAS)

The Newcastle solution: A realist perspective

This intervention was a multi-component program where a number of different strategies were implemented simultaneously: • Reduced trading hours; • ‘Lockouts’; • Restrictions on the strength of alcohol after certain times; • Managerial changes to the operation of the licensed premises