Further evidence for linkage of Gilles de la Tourette syndrome (GTS) susceptibility loci on chromosomes 2p11, 8q22 and 11q23-24 in South African Afrikaners

Utilizing DNA samples from 91 Afrikaner nuclear families with one or more affected children, five genomic regions on chromosomes 2p, 8q, 11q, 20q, and 21q that gave evidence for association with GTS in previous case-control association studies were investigated for linkage and association with GTS. Highly polymorphic markers with mean heterozygosity of 0.77 were typed and resulting genotypes evaluated using single marker transmission disequilibrium (TDT), single marker haplotype relative risk (HRR), and multi-marker "extended" TDT and HRR methods. Single marker TDT analysis showed evidence for linkage or association, with p-values near 0.05, for markers D2S139, GATA28F12, and D11S1377 on chromosomes 2p11, 8q22 and 11q23-24, respectively. Extended, two-locus TDT and HRR analysis provided further evidence for linkage or association on chromosome 2 with p-values of 0.007 and 0.025, and chromosome 8 with p-values of 0.059 and 0.013, respectively. These results provide important additional evidence for the location of GTS susceptibility loci.

Reconstituting identity and history in post-war Mostar, Bosnia-Herzegovina

This paper by Carl Grodach demonstrates the careful unravelling of complexity, diversity, contestation and contradictions involved in the reconstruction of symbolic urban spaces after violent conflict, and the allied processes of cultural reinterpretation, political reconfiguration and material revaluation which accompany it. The paper analyses the reconstruction and redevelopment of the 16th-century historic centre of Mostar, Bosnia-Herzegovina, following the Bosnian Wars of 1992–1995. Reconstruction efforts centre around Stari Most, the 16th-century Ottoman bridge destroyed by Bosnian Croat military in 1993. In Mostar, both international and local organizations are in the process of reinterpreting Bosnia’s legacy of Ottoman city spaces. This research and analysis illuminates how such spaces can be central to contemporary projects to redefine group identities and conceptions of place. It provides insight into the ways various groups are attempting to reshape outside perceptions of the city—and Bosnia’s ethnic conflict—to articulate a new definition of local identity and ethnic relations and to remake a stable tourist economy through Mostar’s urban spaces.

Social networks and use of social supports of minority elders in East Harlem

Considerable empirical research substantiates the importance of social networks on health and well-being in later life. A study of ethnic minority elders living in two low income public housing buildings in East Harlem was undertaken to gain an understanding of the relationship between their health status and social networks. Findings demonstrate that elders with supportive housing had better psychological outcomes and used significantly more informal supports when in need. However, elders with serious health problems had poorer outcomes regardless of their level of social support. This study highlights the potential of supportive living environments to foster social integration and to optimise formal and informal networks.

A cultural assessment of family dispute resolution: Findings about access, retention and outcomes from the evaluation of a Family Relationship Centre

The cultural appropriateness of human service processes is a major factor in determining the effectiveness of their delivery. Sensitivity to issues of culture is particularly critical in dealing with family disputes, which are generally highly emotive and require difficult decisions to be made regarding children, material assets and ongoing relationships. In this article we draw on findings from an evaluation of the Family Relationship Centre at Broadmeadows (FRCB) to offer some insights into and suggestions about managing cultural matters in the current practice of family dispute resolution (FDR) in Australia. The brief for the original research was to evaluate the cultural appropriateness of FDR services offered to culturally and linguistically diverse (CALD) communities living within the FRCB’s catchment area, specifically members of the Lebanese, Turkish and Iraqi communities. The conclusions of the evaluations were substantially positive. The work of the Centre was found to illustrate many aspects of best practice but also raised questions worthy of future exploration. The current article reports on issues of access, retention and outcomes obtained by CALD clients at various stages of the FRCB service.

Synthesis and characterization of K2Ca5(SO4)6· H2O, the equivalent of görgeyite, a rare evaporite mineral

Görgeyite, K2Ca5(SO4)6··H2O, is a very rare monoclinic double salt found in evaporites related to the slightly more common mineral syngenite. At 1 atmosphere with increasing external temperature from 25 to 150 °C, the following succession of minerals was formed: first gypsum and K2O, followed at 100 °C by görgeyite. Changes in concentration at 150 °C due to evaporation resulted in the formation of syngenite and finally arcanite. Under hydrothermal conditions, the succession is syngenite at 50 °C, followed by görgyeite at 100 and 150 °C. Increasing the synthesis time at 100 °C and 1 atmosphere showed that initially gypsum was formed, later being replaced by görgeyite. Finally görgeyite was replaced by syngenite, indicating that görgeyite is a metastable phase under these conditions. Under hydrothermal conditions, syngenite plus a small amount of gypsum was formed, after two days being replaced by görgeyite. No further changes were observed with increasing time. Pure görgeyite showed elongated crystals approximately 500 to 1000 µ m in length. The infrared and Raman spectra are mainly showing the vibrational modes of the sulfate groups and the crystal water (structural water). Water is characterized by OH-stretching modes at 3526 and 3577 cm–1 , OH-bending modes at 1615 and 1647 cm–1 , and an OH-libration mode at 876 cm–1 . The sulfate 1 mode is weak in the infrared but showed strong bands at 1005 and 1013 cm–1 in the Raman spectrum. The 2 mode also showed strong bands in the Raman spectrum at 433, 440, 457, and 480 cm–1 . The 3 mode is characterized by a complex set of bands in both infrared and Raman spectra around 1150 cm–1 , whereas 4 is found at 650 cm–1.

Membrane associated transporter protein gene (SLC45A2) and the genetic basis of normal human pigmentation variation

This work is concerned with the genetic basis of normal human pigmentation variation. Specifically, the role of polymorphisms within the solute carrier family 45 member 2 (SLC45A2 or membrane associated transporter protein; MATP) gene were investigated with respect to variation in hair, skin and eye colour ― both between and within populations. SLC45A2 is an important regulator of melanin production and mutations in the gene underly the most recently identified form of oculocutaneous albinism. There is evidence to suggest that non-synonymous polymorphisms in SLC45A2 are associated with normal pigmentation variation between populations. Therefore, the underlying hypothesis of this thesis is that polymorphisms in SLC45A2 will alter the function or regulation of the protein, thereby altering the important role it plays in melanogenesis and providing a mechanism for normal pigmentation variation. In order to investigate the role that SLC45A2 polymorphisms play in human pigmentation variation, a DNA database was established which collected pigmentation phenotypic information and blood samples of more than 700 individuals. This database was used as the foundation for two association studies outlined in this thesis, the first of which involved genotyping two previously-described non-synonymous polymorphisms, p.Glu272Lys and p.Phe374Leu, in four different population groups. For both polymorphisms, allele frequencies were significantly different between population groups and the 272Lys and 374Leu alleles were strongly associated with black hair, brown eyes and olive skin colour in Caucasians. This was the first report to show that SLC45A2 polymorphisms were associated with normal human intra-population pigmentation variation. The second association study involved genotyping several SLC45A2 promoter polymorphisms to determine if they also played a role in pigmentation variation. Firstly, the transcription start site (TSS), and hence putative proximal promoter region, was identified using 5' RNA ligase mediated rapid amplification of cDNA ends (RLM-RACE). Two alternate TSSs were identified and the putative promoter region was screened for novel polymorphisms using denaturing high performance liquid chromatography (dHPLC). A novel duplication (c.–1176_–1174dupAAT) was identified along with other previously described single nucleotide polymorphisms (c.–1721C>G and c.–1169G>A). Strong linkage disequilibrium ensured that all three polymorphisms were associated with skin colour such that the –1721G, +dup and –1169A alleles were associated with olive skin in Caucasians. No linkage disequilibrium was observed between the promoter and coding region polymorphisms, suggesting independent effects. The association analyses were complemented with functional data, showing that the –1721G, +dup and –1169A alleles significantly decreased SLC45A2 transcriptional activity. Based on in silico bioinformatic analysis that showed these alleles remove a microphthalmia-associated transcription factor (MITF) binding site, and that MITF is a known regulator of SLC45A2 (Baxter and Pavan, 2002; Du and Fisher, 2002), it was postulated that SLC45A2 promoter polymorphisms could contribute to the regulation of pigmentation by altering MITF binding affinity. Further characterisation of the SLC45A2 promoter was carried out using luciferase reporter assays to determine the transcriptional activity of different regions of the promoter. Five constructs were designed of increasing length and their promoter activity evaluated. Constitutive promoter activity was observed within the first ~200 bp and promoter activity increased as the construct size increased. The functional impact of the –1721G, +dup and –1169A alleles, which removed a MITF consensus binding site, were assessed using electrophoretic mobility shift assays (EMSA) and expression analysis of genotyped melanoblast and melanocyte cell lines. EMSA results confirmed that the promoter polymorphisms affected DNA-protein binding. Interestingly, however, the protein/s involved were not MITF, or at least MITF was not the protein directly binding to the DNA. In an effort to more thoroughly characterise the functional consequences of SLC45A2 promoter polymorphisms, the mRNA expression levels of SLC45A2 and MITF were determined in melanocyte/melanoblast cell lines. Based on SLC45A2’s role in processing and trafficking TYRP1 from the trans-Golgi network to stage 2 melanosmes, the mRNA expression of TYRP1 was also investigated. Expression results suggested a coordinated expression of pigmentation genes. This thesis has substantially contributed to the field of pigmentation by showing that SLC45A2 polymorphisms not only show allele frequency differences between population groups, but also contribute to normal pigmentation variation within a Caucasian population. In addition, promoter polymorphisms have been shown to have functional consequences for SLC45A2 transcription and the expression of other pigmentation genes. Combined, the data presented in this work supports the notion that SLC45A2 is an important contributor to normal pigmentation variation and should be the target of further research to elucidate its role in determining pigmentation phenotypes. Understanding SLC45A2’s function may lead to the development of therapeutic interventions for oculocutaneous albinism and other disorders of pigmentation. It may also help in our understanding of skin cancer susceptibility and evolutionary adaptation to different UV environments, and contribute to the forensic application of pigmentation phenotype prediction.

Applying an equity lens to tobacco-control policies and their uptake in six western-european countries

We identified policies that may be effective in reducing smoking among socioeconomically disadvantaged groups, and examined trends in their level of application between 1985 and 2000 in six western-European countries (Sweden, Finland, the United Kingdom, the Netherlands, Germany, and Spain). We located studies from literature searches in major databases, and acquired policy data from international data banks and questionnaires distributed to tobacco policy organisations/researchers. Advertising bans, smoking bans in workplaces, removing barriers to smoking cessation therapies, and increasing the cost of cigarettes have the potential to reduce socioeconomic inequalities in smoking. Between 1985 and 2000, tobacco control policies in most countries have become more targeted to decrease the smoking behaviour of low-socioeconomic groups. Despite this, many national tobacco-control strategies in western-European countries still fall short of a comprehensive policy approach to addressing smoking inequalities.

The relationship between Internet use and perceived performance in retail and professional service firms

lnformation technology (IT) and, in particular, the Internet is dramatically impacting on the services sector. This paper specifically investigates the relative impact of several forms of internet use on perceived performance for two groups of service organisations - retail service firms and professlonal health service firms. Using a mailed out self-administered questionnaire, 625 completed questionnaires were obtained and 43 per cent of respondents reported that they used the lternet. Thus the final usable sample in the study comprised 262 respondents. Results showed that the Internet does significantly influence perceived performance in both types of service firms. However,there are differences in the forms of lntemet use between the two service groups and their relative effect on performance. For retail firms, use of transactional function, such as ordering, selling and payment was found to be positively related to increases in perceived performance. In contrast, for professional health service firms, the ability to search for information on products and/or services was found to be positively associated with perceived performance. Finally, theoretical and managerial implications of the findings of this study are discussed.

Talking about watching : using the video card game and wiki-web technology to engage IT students in developing observational skills.

Designers need to develop good observational skills in order to conduct user studies that reveal the subtleties of human interactions and adequately inform design activity. In this paper we describe a game format that we have used in concert with wiki-web technology, to engage our IT and Information Environments students in developing much sharper observational skills. The Video Card Game is a method of video analysis that is suited to design practitioners as well as to researchers. It uses the familiar format of a card game similar to "Happy Families,, to help students develop themes of interactions from watching video clips. Students then post their interaction themes on wiki-web pages, which allows the teaching team and other students to edit and comment on them. We found that the tangible (cards), game, role playing and sharing aspects of this method led to a much larger amount of interaction and discussion between student groups and between students and the teaching team, than we have achieved using our traditional teaching methods, while taking no more time on the part of the teaching staff. The quality of the resulting interaction themes indicates that this method fosters development of observational skills.In the paper we describe the motivations, method and results in full. We also describe the research context in which we collected the videotape data, and how this method relates to state of the art research methods in interaction design for ubiquitous computing technology.

Consumers' accounts of perceived risk online and the influence of communication sources

The purpose of this paper is to extend marketing knowledge into perceived risk in online transactions beyond the current positivistic, hypotheses-driven research by providing qualitative insights into how individuals construct their accounts of perceived risk online. Additionally, the study reported in this paper aims to explore how communication sources influence both these subjective constructions and individuals' behavioural experiences with transaction activity on the web. Design/methodology/approach - The study was developed within a grounded theory method.Ten in-depth interviews were conducted which were analysed using constant comparison of incidents procedures to provide rich descriptions of the interviewees' subjective perceptions and lived experiences with online transaction activity. Findings - The findings provide insights into how the human clement is present in individuals'perceptions and constructions of their accounts of the risk involved online.The findings also identify the influence of mass communication sources on the construction of these accounts. The study provides insights into whether change agent communication sources, such as marketers or web designers,influence consumers' behaviours towards online transaction activity through mediating their perceptions of the risks involved. The study also reveals how social communication networks influence the interviewees' decisions to use the web (or transaction activities, in particular online purchasing, and how the group in this study might act as a communication source to influence others. Research limitations/Implications - While the findings cannot be generalised to the internet population overall, the sample used was able to provide relevant information regarding the phenomenon of interest. Future research should continue to examine perceived risk and the influence of communications sources, such as e-mail, discussion groups and virtual communities. Originality/value - The value of the paper lies in permitting the participants to account for perceived risk for themselves. The findings ex.plore what this means at increasing levels of personal relevance and the influence of communication sources to create, sustain or mediate perceptions of this phenomenon.

ARCS collaboration tools and support workshop

Registration fees for this workshop are being met by ARCS. There is no cost to attend; however space is limited.----- The Australian Research Collaboration Service (ARCS) has been supporting a wide range of Collaboration Services and Tools which have been allowing researchers, groups and research communities to share ideas and collaborate across organisational boundaries.----- This workshop will give an introduction into a number of web based and real-time collaboration tools and services which researchers may find useful for day-to-day collaboration with members of a research team located within an institution or across institutions. Attendees will be shown how a number of these tools work with strong emphasis placed on how these tools can help facilitate communication and collaboration. Attendees will have the opportunity to try out a number of examples themselves, and interact with the workshop staff to discuss how their own use cases could benefit from the tools and services which can be provided.----- Outline: A hands on introduction will be given to a number of services which ARCS is now operating and/or supporting such as:--- * EVO – A video conferencing environment, which is particularly suited to desktop or low bandwidth applications.--- * AccessGrid – An open source video conferencing and collaboration tool kit, which is great for room to room meetings.--- * Sakai – An online collaboration and learning environment, support teaching and learning, ad hoc group collaboration, support for portfolios and research collaboration.--- * Plone and Drupal – A ready-to-run content management system, that provides you with a system for managing web content that is ideal for project groups, communities, web sites, extranets and intranets.--- * Wikis – A way to easily create, edit, and link pages together, to create collaborative websites.

Listening, sharing understanding and facilitating consumer, family and community empowerment through a priority driven partnership in Far North Queensland

Objectives: This paper provides an example of a mental health research partnership underpinned by empowerment principles that seeks to foster strength among community organizations to support better outcomes for consumers, families and communities. It aims to raise awareness among researchers and service providers that empowerment approaches to assist communities to address mental health problems are not too difficult to be practical but require long-term commitment and appropriate support. Methods: A collaborative research strategy that has become known as the Priority Driven Research (PDR) Partnership emerged through literature review,consultations, Family Wellbeing Program delivery with community groups and activities in two discrete Indigenous communities. Progress to date on three of the four components of the strategy is described. Results: The following key needs were identified in a pilot study and are now being addressed in a research-based implementation phase: (i) gaining two-way understanding of perspectives on mental health and promoting universal awareness; (ii) supporting the empowerment of carers, families, consumers and at-risk groups through existing community organizations to gain greater understanding and control of their situation; (iii) developing pathways of care at the primary health centre level to enable support of social and emotional wellbeing as well as more integrated mental health care; (iv) accessing data to enable an ongoing process of analysis/sharing/planning and monitoring to inform future activity. Conclusion: One of the key learnings to emerge in this project so far is that empowerment through partnership becomes possible when there is a concerted effort to strengthen grassroots community organizations. These include social health teams and men’s and women’s groups that can engage local people in an action orientation. Key words: Aboriginal, empowerment, Indigenous, mental health.

Contrasting views and experiences of health professionals on the management of comorbid substance misuse and mental disorders

Objectives: To determine opinions and experiences of health professionals concerning the management of people with comorbid substance misuse and mental health disorders. Method: We conducted a survey of staff from mental health services and alcohol and drug services across Queensland. Survey items on problems and potential solutions had been generated by focus groups. Results: We analysed responses from 112 staff of alcohol and drug services and 380 mental health staff, representing a return of 79% and 42% respectively of the distributed surveys. One or more issues presented a substantial clinical management problem for 98% of respondents. Needs for increased facilities or services for dual disorder clients figured prominently. These included accommodation or respite care, work and rehabilitation programs, and support groups and resource materials for families. Needs for adolescent dual diagnosis services and after-hours alcohol and drug consultations were also reported. Each of these issues raised substantial problems for over 70% of staff. Another set of problems involved coordination of client care across mental health and alcohol and drug services, including disputes over duty of care. Difficulties with intersectoral liaison were more pronounced for alcohol and drug staff than for mental health. A majority of survey respondents identified 13 solutions as practical. These included routine screening for dual diagnosis at intake, and a range of proposals for closer intersectoral communication such as exchanging client information, developing shared treatment plans, conducting joint case conferences and offering consultation facilities. Conclusions: A wide range of problems for the management of comorbid disorders were identified. While solution of some problems will require resource allocation, many may be addressed by closer liaison between existing services.

Changing motorcycle rider safety attitudes and motives for risk taking : process evaluation of a rider training intervention

Risk-taking behaviour by motorcyclists has been shown to contribute to a substantial proportion of road crashes in Australia and abroad. Concern has been expressed that traditional motorcycle licence training programs do not sufficiently address such behaviour. Accordingly, the Three Steps to Safer Riding program was developed to address risk taking behaviour by riders as an adjunct to existing skills-based rider training. The program was designed to be delivered in a one hour classroom session at the start of training, with a 20 minute debrief to revise the key concepts at the end of training. This paper reports on the key training concepts, methodology and implementation of the pilot program with a major rider training organisation in Queensland and presents findings from a process evaluation. The Three Steps to Safer Riding intervention pilot was delivered to 518 learner riders over a three month period. Follow-up focus groups and one interview with intervention participants (N=18) five to eight months after completion of the program suggest that new riders (absolute novices) embraced and internalised many of the intervention concepts. However, some riders who had previous riding experience prior to training stated these issues were common sense, yet still expressed riding styles that were contrary to some of the key intervention messages. This is discussed in terms of raising awareness of risk issues for motorcyclists versus behaviour change. Additionally, interviews conducted with riding instructors are discussed regarding logistical challenges of implementation, training consistency, skills required to deliver the program, support for the program, and student engagement.