Mutation analysis of the CDKN2A promoter in Australian melanoma families

Approximately 50% of all melanoma families worldwide show linkage to 9p21-22, but only about half of these have been shown to contain germ line CDKN2A mutations. It has been hypothesized that a proportion of these families carry mutations in the noncoding regions of CDKN2A. Several Canadian families have been reported to carry a mutation in the 5' UTR, at position -34 relative to the start site, which gives rise to a novel AUG translation initiation codon that markedly decreases translation from the wild-type AUG (Liu et al., 1999). Haplotype sharing in these Canadian families suggested that this mutation is of British origin. We sequenced 1,327 base pairs (bp) of CDKN2A, making up 1,116 bp of the 5' UTR and promoter, all of exon 1, and 61 bp of intron 1, in at least one melanoma case from 110 Australian families with three or more affected members known not to carry mutations within the p16 coding region. In addition, 431 bp upstream of the start codon was sequenced in an additional 253 affected probands from two-case melanoma families for which the CDKN2A mutation status was unknown. Several known polymorphisms at positions -33, -191, -493, and -735 were detected, in addition to four novel variants at positions 120, -252, -347, and -981 relative to the start codon. One of the probands from a two-case family was found to have the previously reported Q50R mutation. No family member was found to carry the mutation at position -34 or any other disease-associated mutation. For further investigation of noncoding CDKN2A mutations that may affect transcription, allele-specific expression analysis was carried out in 31 of the families with at least three affected members who showed either complete or "indeterminate" 9p haplotype sharing without CDKN2A exonic mutations. Reverse transcription polymerase chain reaction and automated sequencing showed expression of both CDKN2A alleles in all family members tested. The lack of CDKN2A promoter mutations and the absence of transcriptional silencing in the germ line of this cohort of families suggest that mutations in the promoter and 5' UTR play a very limited role in melanoma predisposition.

Impact of disability on families : Grandparents’ perspectives

Background Caring for a child with a disability can be a unique and challenging experience, with families often relying on informal networks for support. Often, grandparents are key support resources, yet little is known about their roles and experiences. Reporting on data collected in a larger Australian study, this article explores grandparents' experiences of caring for a child with a disability and the impact on their family relationships and quality of life. Method A qualitative purposive sampling design was utilised; semi-structured interviews were conducted with 22 grandparents (17 women, 5 men) of children with a disability. Grandparents ranged in age from 55 to 75 years old and lived within a 90-min drive of Brisbane, Australia. Interviews were transcribed and responses analysed using a thematic approach, identifying categories, themes and patterns. Findings Four key themes characterised grandparents' views about their role in the family: holding own emotions (decision to be positive), self-sacrifice (decision to put family needs first), maintaining family relationships (being the ‘go-between’) and quality of life for family in the future (concerns about the future). Conclusions Grandparents are central to family functioning and quality of life, but this contribution comes with a significant cost to their own personal well-being. Implications for policy, practice and research are discussed, particularly grandparents' fear that their family could not cope without their support.

Construction of Francophone families’ health literacy in a linguistic minority situation

With the increase in international mobility, healthcare systems should no longer be ignoring language barriers. In addition to the benefit of reducing long‐term costs, immigrant‐friendly organizations should be concerned with mitigating the way language barriers increase individuals’ social vulnerabilities and inequities in health care and health status. This paper reports the findings of a qualitative, exploratory study of the health literacy of 28 Francophone families living in a linguistic‐minority situation in Canada. Analysis of interviews revealed that participants’ social vulnerability, mainly due to their limited social and informational networks, influenced the construction of family health literacy. Disparities in access to healthcare services could be decreased by having health professionals’ work in alliance with Francophone community groups and by hiring bilingual health professionals. Linguistic isolation and lack of knowledge about local cultural organizations among Francophone immigrants were two important findings of this study

The parents at playgroup research report : engaging families in supported playgroups

The past decade has seen increasing numbers of government programs funded to support vulnerable families with young children. Supported playgroups are one important strategy in Australia’s current family policies that are provided in all states and territories (ARTD, 2008). National policies have increasingly invested in family support programs, such as supported playgroups. Despite known challenges in engaging vulnerable families in support programs, little is known about the capacity of supported playgroups to effectively engage families to achieve desired outcomes. This project explores family patterns of attendance in supported playgroups and examines the extent to which parental characteristics and experiences of the playgroup explain variations in engagement. The findings can inform the delivery of other family support programs...

Quality and readability of information materials for people with brain tumours and their families

Written information is commonly used to inform patients about their disease and treatment, but must be evidence-based and understandable to be useful. This study assessed the quality of the content and the readability of information brochures for people affected by brain tumours. We randomly selected 18 publicly available brochures. Brochures were assessed by criteria to assess the quality of content using the DISCERN instrument. Readability was tested using three commonly used formulas, which yield the reading grade level required to comprehend the brochure (sixth grade level recommended). The mean overall DISCERN score was 3.17 out of a maximum of 5 (moderate quality); only one achieved a rating greater than 4 (high quality). Only one brochure met the sixth grade readability criteria. Although brochures may have accurate content, few satisfied all of the recommended criteria to evaluate their content. Existing brochures need to be critically reviewed and simplified, consumer-focused brochures produced.

Health professionals’ perspectives on information provision for patients with brain tumours and their families

A significant number of patients diagnosed with primary brain tumours report unmet information needs. Using concept mapping methodology, this study aimed to identify strategies for improving information provision, and to describe factors that health professionals understood to influence their provision of information to patients with brain tumours and their families. Concept mapping is a mixed methods approach that uses statistical methods to represent participants’ perceived relationships between elements as conceptual maps. These maps, and results of associated data collection and analyses, are used to extract concepts involved in information provision to these patients. Thirty health professionals working across a range of neuro-oncology roles and settings participated in the concept mapping process. Participants rated a care coordinator as the most important strategy for improving brain tumour care, with psychological support as a whole rated as the most important element of care. Five major themes were identified as facilitating information provision: health professionals’ communication skills, style and attitudes; patients’ needs and preferences; perceptions of patients’ need for protection and initiative; rapport and continuity between patients and health professionals; and the nature of the health care system. Overall, health professionals conceptualised information provision as ‘individualised’, dependent on these interconnected personal and environmental factors.

Workable solutions : the intersubjective careers of women with families

This chapter considers to what degree the careers of women with young families, both in and out of paid employment, are lived as contingent, intersubjective projects pursued across time and space, in the social condition of growing biographical possibilities and uneven social/ideological change. Their resolutions of competing priorities by engaging in various permutations of home-work and paid work are termed ‘workable solutions’, with an intentional play on the double sense of ‘work’ – firstly as labour, thus being able to perform work, whether paid or not; secondly as in being able to make things work or function in the family unit’s best interests, however defined.

Thai family support (TFS) : working with families of young substance users in primary health care

Living with substance users negatively impacts upon family members in many ways, and distress is common. Despite these deep and wide-ranging impacts, supportive interventions for family members in their own right are rarely available. Thailand has substantial and growing problems with substance use, and there is very little support or family members of drug users, especially in community setting. The Thai Family Support (TFS) program was designed for implementation in primary health care units (PCUs) in Thailand. TFS was based on two approaches with existing empirical support in Western contexts—the 5-step method and CRAFT—with adaptations to a Thai setting that included integration with Buddhist practices. Its aims were to increase well-being of family members, reduce mental distress, improve family relationships between family members, and engage substance users in behaviour change. A small-scale randomised controlled trial on TFS with a Delayed Treatment control was conducted, with assessments at 8 weeks (Post 1) and 20-24 weeks (Post 2). Structured interviews with participants and PCU staff and an examination of five case studies augmented the quantitative results. Mixed Model Analyses were applied to quantitative outcomes, and thematic analysis was used for qualitative data. Thirty-six participants (18 in each of Immediate and Delayed Conditions) were recruited. A significant difference at Baseline between the two conditions was observed on the Thai GHQ-28 and Gender, but it was not possible to statistically control for these effects. There was a significant Time by Condition interaction on the Thai GHQ-28, WHOQOL-BREF-THAI and FAS, reflecting greater improvements in the Immediate condition by Post 1, but with the Delayed condition meeting or exceeding that effect by Post 2. On FES Cohesion and Conflict, there were falls across conditions at Post 2, but only Cohesion also showed a Time by Condition interaction, and that effect was consistent with a delayed impact of treatment. Overall, TFS by PCU staff in the Delayed Condition gave similar results to TFS conducted by the researcher, supporting the viability of its dissemination to standard health services. Qualitative data also confirmed the quantitative results. Most participants reported physiological and psychological improvements even though their substance-using relative did not change their drug use behaviour. After completing TFS, participants reported increased knowledge, group support and sharing feeling, having positive patient-professional relationship, having greater knowledge of substance abuse and social support. In particular, they changed their behaviour towards the substance user, resulting in improvements to family relationships. PCU staff gave similar responses on the efficacy of TFS, and saw it as feasible for routine use, although some implementation challenges were identified. The cultural adaptation and in particular the religious activities, were recognised by participants and PCU staff as an important component of TFS to support psychological health and well-being. Findings from this study showed the impact of substance use on family members and difficulties that they experienced when living with the substance users, resulting distresses and burden that may develop severe mental health disease. Drug use policies should be modified to support family members and response to their needs effectively for early prevention. This study also gave preliminary support for application of the TFS program in rural primary care settings and identified some policies that will be required for it to be disseminated more broadly.

Parent and adolescent perceptions of family functioning : a comparison of clinic and non-clinic families

In this paper two studies are reported which compare (a) the perceptions of family functioning held by clinic and non-clinic adolescents, and (b) the perceptions of family functioning held by adolescents and their mothers in clinic and non-clinic families. In Study 1, matched group of clinic and non-clinic adolescents were compared on their responses to a 30-item scale (ICPS) designed to measure three factors of family functioning: Intimacy (high vs. low), Parenting Style (democratic vs. controlled) and Conflict (high vs. low). Clinic and non-clinic adolescents were also compared on their responses to a multi-dimensional measure of adolescent self-concept. Although there was little difference between the two groups of adolescents in terms of their perceptions of family functioning, there were strong relationships between the self-concept variables and the family functioning variables. In Study 2, comparisons were made between the perceptions of family functioning held by mothers and adolescents for both clinical and non-clinic families. There were no differences between the two groups of adolescents in terms of their perceptions of family functioning, although there were clear differences between the two groups of mothers. In addition, clinic adolescents and their mothers did not differ in their perceptions of the family, whereas adolescents in the non-clinic group saw their families significantly as less intimate and more conflicted than did their mothers.

Mobius markets : professional families in rural educational markets

Australia has many isolated communities that require human services provided by qualified professionals. Maintaining a viable and equitable spread of such educational capital across space as a public good is a challenge. Reports investigating this problem repeatedly point to ‘family issues’ such as limited options for children’s education, and limited access to ongoing professional development, as deterrents for rural/remote employment despite lucrative incentive schemes. This paper draws on semi-structured interviews with 30 parents of school-aged children, who work as doctors, nurses, teachers and police in six rural/remote towns in Queensland. We asked them how their family units reconcile career opportunities with educational strategy for family members over time and space. This paper considers these issues as a sociology of education problem in a context of educational marketisation and spiralling credentialism. This paper offers the concept of ‘mobius markets’ to capture the cyclical and intergenerational process underway in middle class professional families of investing in educational capitals, maintaining or maximising their value and profiting from them. A mobius strip is the topological anomaly of a single loop with one twist in it, whereby the loop becomes one continuous surface, not the double-sided shape it appears to be. This project is interested in how the middle class professional family is similarly on a constant circuit, investing in educational capitals, upgrading their currency/value, and profiting from them. This elaborated sense of educational markets extends the more usual sociological focus on school choice.

Business in troubled waters : does adverse attitude affect firm value?

This paper investigates the relationship between US MNCs' valuations and anti-Americanism in countries where MNCs' foreign subsidiaries are located. We find that MNCs suffer value-destruction when they enter markets where people express severe anti-Americanism. However, we uncover that geographic diversification into these high anti-Americanism countries significantly increases firm value if the MNC has high levels of intangibles such as technological know-how and marketing expertise. Our findings are consistent with the notion that the advantages from internalizing the cross-border transfer of intangibles are greater when barriers to competition are higher.

Empower me : social innovation design for homeless families : collective design creativity

Design Creativity has largely been explored as an individual expression of design cognition rather than as the collective manifestation of interaction in context. Recent approaches to design with an emphasis on co-design suggest that the problem-solution space co-evolves through social interaction. Socially Responsive Design for Social Innovation constitutes the most recent and perhaps the most promising domain of application for design thinking practices that emphasize collaborative innovation. In this paper, we describe the ideation of a service design solution for homeless families (Em.power.me), developed through consultation with a range of stakeholders over a three month period. This service design innovation aimed to visualise how such a service would operate and identify the potential benefits for all stakeholders. We focus here on the phases leading to the ideation of the service design.

Social influences and the physical activity intentions of parents of young-children families: An extended Theory of Planned Behavior Approach

Evidence within Australia and internationally suggests parenthood as a risk factor for inactivity; however, research into understanding parental physical activity is scarce. Given that active parents can create active families and social factors are important for parents’ decision making, the authors investigated a range of social influences on parents’ intentions to be physically active. Parents (N = 580; 288 mothers and 292 fathers) of children younger than 5 years completed an extended Theory of Planned Behavior questionnaire either online or paper based. For both genders, attitude, control factors, group norms, friend general support, and an active parent identity predicted intentions, with social pressure and family support further predicting mothers’ intentions and active others further predicting fathers’ intentions. Attention to these factors and those specific to the genders may improve parents’ intentions to be physically active, thus maximizing the benefits to their own health and the healthy lifestyle practices for other family members.