Common genetic variants influence human subcortical brain structures

The highly complex structure of the human brain is strongly shaped by genetic influences. Subcortical brain regions form circuits with cortical areas to coordinate movement, learning, memory and motivation, and altered circuits can lead to abnormal behaviour and disease. To investigate how common genetic variants affect the structure of these brain regions, here we conduct genome-wide association studies of the volumes of seven subcortical regions and the intracranial volume derived from magnetic resonance images of 30,717 individuals from 50 cohorts. We identify five novel genetic variants influencing the volumes of the putamen and caudate nucleus. We also find stronger evidence for three loci with previously established influences on hippocampal volume and intracranial volume. These variants show specific volumetric effects on brain structures rather than global effects across structures. The strongest effects were found for the putamen, where a novel intergenic locus with replicable influence on volume (rs945270; P = 1.08×10 -33; 0.52% variance explained) showed evidence of altering the expression of the KTN1 gene in both brain and blood tissue. Variants influencing putamen volume clustered near developmental genes that regulate apoptosis, axon guidance and vesicle transport. Identification of these genetic variants provides insight into the causes of variability in human brain development, and may help to determine mechanisms of neuropsychiatric dysfunction.

Identification of common variants associated with human hippocampal and intracranial volumes

Identifying genetic variants influencing human brain structures may reveal new biological mechanisms underlying cognition and neuropsychiatric illness. The volume of the hippocampus is a biomarker of incipient Alzheimer's disease and is reduced in schizophrenia, major depression and mesial temporal lobe epilepsy. Whereas many brain imaging phenotypes are highly heritable, identifying and replicating genetic influences has been difficult, as small effects and the high costs of magnetic resonance imaging (MRI) have led to underpowered studies. Here we report genome-wide association meta-analyses and replication for mean bilateral hippocampal, total brain and intracranial volumes from a large multinational consortium. The intergenic variant rs7294919 was associated with hippocampal volume (12q24.22; N = 21,151; P = 6.70 × 10 -16) and the expression levels of the positional candidate gene TESC in brain tissue. Additionally, rs10784502, located within HMGA2, was associated with intracranial volume (12q14.3; N = 15,782; P = 1.12 × 10 -12). We also identified a suggestive association with total brain volume at rs10494373 within DDR2 (1q23.3; N = 6,500; P = 5.81 × 10 -7).

The ENIGMA Consortium: Large-scale collaborative analyses of neuroimaging and genetic data

The Enhancing NeuroImaging Genetics through Meta-Analysis (ENIGMA) Consortium is a collaborative network of researchers working together on a range of large-scale studies that integrate data from 70 institutions worldwide. Organized into Working Groups that tackle questions in neuroscience, genetics, and medicine, ENIGMA studies have analyzed neuroimaging data from over 12,826 subjects. In addition, data from 12,171 individuals were provided by the CHARGE consortium for replication of findings, in a total of 24,997 subjects. By meta-analyzing results from many sites, ENIGMA has detected factors that affect the brain that no individual site could detect on its own, and that require larger numbers of subjects than any individual neuroimaging study has currently collected. ENIGMA's first project was a genome-wide association study identifying common variants in the genome associated with hippocampal volume or intracranial volume. Continuing work is exploring genetic associations with subcortical volumes (ENIGMA2) and white matter microstructure (ENIGMA-DTI). Working groups also focus on understanding how schizophrenia, bipolar illness, major depression and attention deficit/hyperactivity disorder (ADHD) affect the brain. We review the current progress of the ENIGMA Consortium, along with challenges and unexpected discoveries made on the way.

Preliminary phonological analysis of the Limi dialect of Humla Bhotia

The purpose of this research was to analyse the phonological system of the Limi dialect of Humla Bhotia. Humla Bhotia is a Tibeto-Burman language that is spoken by approximately 4000 5000 people in the far northwestern Humla province of the Kingdom of Nepal. The language has not previously been the subject of analysis. The data base for this thesis was collected on two different dialects of Humla Bhotia in Kathmandu, the capital of Nepal, from February to May 2000. I had three language informants who speak Humla Bhotia as their mother tongue. One of the informants speaks the Upper Humla dialect and the other two informants speak the Limi dialect. In this thesis I have concentrated on the phonology of the dialect of Limi but occasionally I also make reference to the Upper Humla dialect. The Limi data base consists of 600 words elicited in isolation, sentences where words have been checked for consonantal and pitch variation, and five texts comprising 117 sentences. Firstly, I have studied the geographical location, population and dialects of Humla Bhotia. Five dialects were identified: Limi, Upper Humla, La Yakba, Nyinba and Humli Khyampa. Information on the dialect areas is based on the accounts of seven mother tongue speakers of the language and on Nancy Levine s (1988) anthropological research of the ethnic group Nyinba. Secondly, I have analysed the phonological system of Limi from the viewpoint of American stucturalism much along the lines followed by Pike 1966 [1947] ja 1967 [1948]. In defining the prosodic elements I have also used acoustic analysis. In the Limi dialect there are 7 vowel phonemes. No vowel clusters occur within the same syllable. In this preliminary analysis 29 contrastive plosives, 8 affricates and 5 6 fricatives were found. The data also revealed 4 nasal phonemes, two rhotic phonemes, one lateral phoneme and two central approximants. Further research is however called for to check the phonemic status of these segments. Four contrastive prosodic elements were encountered: nasalisation, length, phonation type and pitch movement. There are two contrastive types of phonation: tense and lax. Many words were found with a third type of phonation, modal phonation. How modal phonation relates to the prosodic system is unclear at this stage and is therefore left for further research to determine. There are two contrastive pitch movement tonemes: a rising toneme and falling toneme. The falling toneme occurs in free variation with a level pitch contour. Rising appears to be linked with lax phonation and falling with tense phonation.

Women's views of ultrasonography: A comparison of women's experiences of antenatal ultrasound screening with cerebral ultrasound of their newborn infant

Ultrasound screening is now a routine procedure which forms part of antenatal care provision. Within this routine context ultrasound technology has been found to be generally acceptable and indeed is positively demanded by many women. This paper raises the question whether the routine presentation of ultrasound implicitly conveys the message that is use in antenatal care is both valuable and safe. It examines women's views of ultrasound technology beyond a routine context. In a study designed to examine women's reactions to cerebral ultrasound on their normal term infants mothers were asked their views and knowledge of ultrasound and a comparison with their antenatal experience of ultrasound was elicited. A generalized concern about ultrasound techniques was found to underlie many of the women's comments. This raised questions concerning the current practice in the presentation of ultrasound to women attending for antenatal care.

Destination image: identifying baseline perceptions of Brazil, Argentina and Chile in the nascent Australian long haul travel market

While the popularity of destination image research has increased exponentially in the literature, there has been relatively little published about perceptions held by international consumers of destinations in South America. The purpose of this paper is to report the findings of a research project that aimed to identify the baseline market perceptions of Brazil, Argentina and Chile amongst Australian residents, at the time of the emergence of this long haul market. Of interest was the extent to which Australians differentiate the three distinct countries versus perceiving the continent as a gestalt. These baseline perceptions enable the effectiveness of future marketing communications in Australia by the three national tourism offices to be monitored over time. Importance-Performance Analysis (IPA) is used as a practical analytical tool to guide decision makers. In terms of operationalising destination image, a key research finding was the very high ratio or participants using the ‘Don’t know’ (DK) option for each destination performance scale item. This finding has practical implications for the destination marketers, as well as for researchers engaged in destination image research in long haul and/or emerging markets.

Stopover destination image: Using the repertory test to identify salient attributes

This paper reports a rare investigation of stopover destination image. Although the topic of destination image has been one of the most popular in the tourism literature since the 1970s, there has been a lack of research attention in relation to the context of stopover destinations for long haul international travellers. The purpose of this study was to identify attributes deemed salient to Australian consumers when considering stopover destinations for long haul travel to the United Kingdom and Europe. Underpinned by Personal Construct Theory (PCT), the study used the Repertory Test to identify 21 salient attributes, which could be used in the development of a survey instrument to measure the attractiveness of a competitive set of stopover destinations. While the list of attributes shared some commonality with general studies of destination image reported in the literature, the elicitation of a relatively large number of stopover context specific attributes highlights the potential benefit of engaging with consumers in qualitative research, such as using the Repertory Test, during the questionnaire development stage.

A role to play: Investigating concepts of masculinity in Australia through theatre

Health professionals, academics, social commentators and the media are increasingly sending the same message – Australian men are in crisis. This message has been supported by documented rises in alcoholism, violence, depression, suicide and crime amongst men in Australia. A major cause of this crisis, it can be argued, is an over-reliance on the out-dated and limited model of hegemonic masculinity that all men are encouraged to imitate in their own behaviour. This paper, as part of a larger study, explores representations of masculinity in selected works of contemporary Australian theatre in order to investigate the concept of hegemonic masculinity and any influence it may have on the perceived ‘crisis of masculinity’. Theatre is but one of the artistic modes that can be used to investigate masculinity and issues associated with identity. The Australia Council for the Arts recognises theatre, along with literature, dance, film, television, inter-arts, music and visual arts, as critical to the understanding and expression of Australian culture and identity. Theatre has been chosen in this instance because of the opportunities available to this study for direct access to specific theatre performances and creators and, also, because of the researcher’s experience, as a theatre director, with the dramatic arts. Through interviews with writers, directors and actors, combined with the analysis of scripts, academic writings, reviews, articles, programmes, play rehearsals and workshops, this research utilises theatre as a medium to explore masculinity in Australia.

Appalling behaviour

'Appalling Behaviour' is a critically acclaimed contemporary Australian monologue, written by AWGIE Award winning playwright, Stephen House. This production, directed and creatively adapted by Shane Pike, was presented at the Brisbane Powerhouse in February 2016, as part of Queensland's LGBTIQ festival, Melt. This adaptation of the work experimented with notions of gender, taking the original script and manipulating character and scene to investigate expressions of identity beyond the traditional notions of binary gender-norms. To this end, the sole character (and actor) was (re)presented as a homeless bi-sexual queen with the aim of inferring that gender un/ab-normative characters can exist not only as disruptors/comments on/agitators of traditional expectations of performed gender (both onstage and off), but can also exist as accepted characters in and of themselves. Put simply: can a bi-sexual queen just be an actor/character in a play, or do all gender extra-normative characters inherently exist as political, social and cultural challengers? If so, why is this the case and should we be aiming for this kind of character to be an accepted part of the performative fabric, seamless and fitting within any onstage situation and play (why can't Willy Loman, King Lear or Nora be gender non-normative), or should such (re)presentations always exist as 'different'? Is it time for individual expressions of gender to just 'be' and be accepted as givens, or are we not quite there yet?

(Re)presenting Masculinity: A theatre director's critical observations of, and theatrical experimentation with, (re)presentations of masculinity in selected works of contemporary Australian theatre

Health professionals, academics, social commentators and the media are increasingly sending the same message – Australian men are in crisis. This message has been supported by documented rises in alcoholism, violence, depression, suicide and crime amongst men in Australia. A major cause of this crisis, it can be argued, is an over-reliance on the out-dated and limited model of hegemonic masculinity that all men are encouraged to imitate in their own behaviour. This paper, as part of a larger study, explores representations of masculinity in selected works of contemporary Australian theatre in order to investigate the concept of hegemonic masculinity and any influence it may have on the perceived ‘crisis of masculinity’. Theatre is but one of the artistic modes that can be used to investigate masculinity and issues associated with identity. The Australia Council for the Arts recognises theatre, along with literature, dance, film, television, inter-arts, music and visual arts, as critical to the understanding and expression of Australian culture and identity. Theatre has been chosen in this instance because of the opportunities available to this study for direct access to specific theatre performances and creators and, also, because of the researcher’s experience, as a theatre director, with the dramatic arts. Through interviews with writers, directors and actors, combined with the analysis of scripts, academic writings, reviews, articles, programmes, play rehearsals and workshops, this research utilises theatre as a medium to explore masculinity in Australia.

Legacies of War--[Ten percent terror]

Ten Percent Terror brings together leading creatives from the fields of contemporary theatre, contemporary dance, music theatre, circus and digital arts in the first collaboration of its kind. Commissioned by Brisbane Powerhouse, with support from the Anzac Centenary Arts and Culture Fund and in partnership with Dancenorth and Company 2, this is an inter-disciplinary work that combines theatrical narrative with eloquent physicality, through circus and dance, to express certain truths of the soldiers' experience. This production will be a circus-narrative that uses the form and language of circus to express the key themes of risk, panic and brotherhood. Ten Percent Terror is intended to be a work of scale, yet also intimacy: of stillness and panic, inertia and chaos. Project partners, Dancenorth and Company 2, share the vision to use contemporary artistic disciplines to connect younger and modern audiences to the ANZAC legacy, perhaps offering a connection for those audiences that they may not find through more traditional art forms. The development process has included a community research project in Townsville, conducted by Shane Pike, which explored contemporary Australians’ stories through interviews with serving military personnel and the local community, as well as collecting photographic documentation and other artefacts from around Townsville. This was followed by an archival research project in Brisbane, where Pike reviewed letters, photographs and personal accounts of soldiers from WW1. The results of these projects will be used by the creative team to inform the development of Ten Percent Terror. Given Townsville’s reputation as Australia’s ‘garrison’ city, the project partners plan to deliver the world premiere performance of Ten Percent Terror in Townsville in late 2015. It is intended that Ten Percent Terror will receive its Brisbane premiere in November 2015 at Brisbane Powerhouse, as part of a four-performance season. This expert panel included discussion of the project and its place in analysing key aspects of Australia's wartime history.

Perceptions of destinations don’t change much over time

One of the most popular topics in tourism research is destination image. That is, measuring consumers’ perceptions of a destination. The importance of the topic is a no brainer given travellers are spoilt by choice of destinations, and that the images they hold of a place are as important as the tangible tourism features. This is underpinned by the old adage perception is reality, a theory promoted by two academics back in 1928 who proposed “what people believe to be true will be real in its consequences”. So, every place marketer knows consumer perceptions play a major role in the competitiveness of their destination.

Coastal environmental gradients – Key to reproduction habitat mapping of freshwater fish in the Baltic Sea

Habitat requirements of fish are most strict during the early life stages, and the quality and quantity of reproduction habitats lays the basis for fish production. A considerable number of fish species in the northern Baltic Sea reproduce in the shallow coastal areas, which are also the most heavily exploited parts of the brackish marine area. However, the coastal fish reproduction habitats in the northern Baltic Sea are poorly known. The studies presented in this thesis focused on the influence of environmental conditions on the distribution of coastal reproduction habitats of freshwater fish. They were conducted in vegetated littoral zone along an exposure and salinity gradient extending from the innermost bays to the outer archipelago on the south-western and southern coasts of Finland, in the northern Baltic Sea. Special emphasis was placed on reed-covered Phragmites australis shores, which form a dominant vegetation type in several coastal archipelago areas. The main aims of this research were to (1) develop and test new survey and mapping methods, (2) investigate the environmental requirements that govern the reproduction of freshwater fish in the coastal area and (3) survey, map and model the distribution of the reproduction habitats of pike (Esox lucius) and roach (Rutilus rutilus). The white plate and scoop method with a standardized sampling time and effort was demonstrated to be a functional method for sampling the early life stages of fish in dense vegetation and shallow water. Reed-covered shores were shown to form especially important reproduction habitats for several freshwater fish species, such as pike, roach, other cyprinids and burbot, in the northern Baltic Sea. The reproduction habitats of pike were limited to sheltered reed- and moss-covered shores of the inner and middle archipelago, where suitable zooplankton prey were available and the influence of the open sea was low. The reproduction habitats of roach were even more limited and roach reproduction was successful only in the very sheltered reed-covered shores of the innermost bay areas, where salinity remained low (< 4‰) during the spawning season due to freshwater inflow. After identifying the critical factors restricting the reproduction of pike and roach, the spatial distribution of their reproduction habitats was successfully mapped and modelled along the environmental gradients using only a few environmental predictor variables. Reproduction habitat maps are a valuable tool promoting the sustainable use and management of exploited coastal areas and helping to maintain the sustainability of fish populations. However, the large environmental gradients and the extensiveness of the archipelago zone in the northern Baltic Sea demand an especially high spatial resolution of the coastal predictor variables. Therefore, the current lack of accurate large-scale, high-resolution spatial data gathered at exactly the right time is a considerable limitation for predictive modelling of shallow coastal waters.

Tracking brand positioning for an emerging destination: 2003 to 2015

Few published studies have monitored destination brand image over time. This temporal aspect is an important gap in the literature, given consensus around the role perceptions play in consumers’ decision making, and the ensuing emphasis on imagery in destination branding collateral. Whereas most destination image studies have been a snapshot of perceptions at one point in time, this paper presents findings from a survey implemented four times between 2003 and 2015. Brand image is the core construct in modelling destination branding performance, which has emerged as a relatively new field of research in the past decade. Using the consumer-based brand equity (CBBE) hierarchy, the project has benchmarked and monitored destination brand salience, image and resonance for an emerging regional destination, relative to key competitors, in the domestic Australian market; and the survey instrument has been demonstrated to be reliable in the context of short break holidays by car. What is particularly interesting to date is there has been relatively little change in the market positions of the five destinations, in spite of over a decade of marketing communications by the regional tourism organisations and their stakeholders, and more recently the mass of user-generated travel content on social media. The project didn’t analyse the actual marketing communications for each of the DMOs. Therefore an important implication is that irrespective of the level of marketing undertaken the DMOs seem to have had little control over the perceptions held in their largest market during this time period. Therefore it must be recognised any improvement in perceptions will likely take a long period of time, and so branding needs to be underpinned by a philosophy of a long term financial investment as well as commitment to a consistency of message over time; which given the politics of DMO decision making represents a considerable challenge.

Destinations, disasters and public relations: Stakeholder engagement in multi-phase disaster management

Research about disasters in tourism has emerged in earnest since the 1990s covering insights for preparedness and response. However, recently, authors have called for more systematic and holistic approaches to tourism disaster management research. To address this gap, this study adopted a public relations perspective to refocus attention to relationships and stakeholder expectations of destination communities across multiple phases of disaster management. The authors used a mixed method approach and developed a battery of disaster management attributes by conducting interviews and analyzing industry documents and the extant literature. These attributes formed part of a survey of tourism businesses. Exploratory factor analysis resulted in a two factor solution: - i) business disaster preparedness, and; - ii) destination disaster response and recovery. Findings also show that participants reported a gap between the importance and destination performance of these attributes. In particular, tourism businesses perceived destinations did not adequately engage in disaster preparedness activities, which had implications for disaster response and recovery.