Haplotype analysis of two recurrent CDKN2A mutations in 10 melanoma families : evidence for common founders and independent mutations

Germ-line mutations in CDKN2A have been shown to predispose to cutaneous malignant melanoma. We have identified 2 new melanoma kindreds which carry a duplication of a 24bp repeat present in the 5' region of CDKN2A previously identified in melanoma families from Australia and the United States. This mutation has now been reported in 5 melanoma families from 3 continents: Europe, North America, and Australasia. The M53I mutation in exon 2 of CDKN2A has also been documented in 5 melanoma families from Australia and North America. The aim of this study was to determine whether the occurrence of the mutations in these families from geographically diverse populations represented mutation hotspots within CDKN2A or were due to common ancestors. Haplotypes of 11 microsatellite markers flanking CDKN2A were constructed in 5 families carrying the M53I mutation and 5 families carrying the 24bp duplication. There were some differences in the segregating haplotypes due primarily to recombinations and mutations within the short tandem-repeat markers; however, the data provide evidence to indicate that there were at least 3 independent 24bp duplication events and possibly only 1 original M53I mutation. This is the first study to date which indicates common founders in melanoma families from different continents.

Adolescent experiences of 'family meals' in Australia

Popular discourse laments the decline of the ‘family meal’, leading to family fragmentation and nutritional compromise. This article reports findings of a study investigating beliefs and practices surrounding the ‘family meal’, using data drawn from an on-line survey completed by 625 adolescents in Perth, Western Australia. The results challenge current concerns about the loss of the ‘family meal’, demonstrating that, for a majority, meals are eaten together rather than in isolation; are home-made rather than store bought or fast food; and are sites of conversation regardless of the presence of a television. Adolescents are divided, however, on the value of the ‘family meal’, with half seeing it as a positive experience of family togetherness and half regarding it negatively or as unimportant. The findings go some way to dispelling the notion that the ‘family meal’ no longer exists in Australia.

Winds of Change

Winds of Change is a short film that contrasts the Tragic Tale of Surachai by tracing the life of a rural Australian man who is left a quadriplegic after a near fatal motorcycle accident. The film highlights issues confronting people living with a disability and its impact on family. This film was developed to raise discussion amongst students studying social work and human services at Queensland University of Technology.

Ensuring Correctness During Process Configuration via Partner Synthesis

Variants of the same process can be encountered within one organization or across different organizations. For example, different municipalities, courts, and rental agencies all need to support highly similar processes. In fact, procurement and sales processes can be found in almost any organization. However, despite these similarities, there is also the need to allow for local variations in a controlled manner. Therefore, many academics and practitioners have advocated the use of configurable process models (sometimes referred to as reference models). A configurable process model describes a family of similar process models in a given domain. Such a model can be configured to obtain a specific process model that is subsequently used to handle individual cases, for instance, to process customer orders. Process configuration is notoriously difficult as there may be all kinds of interdependencies between configuration decisions. In fact, an incorrect configuration may lead to behavioral issues such as deadlocks and livelocks. To address this problem, we present a novel verification approach inspired by the “operating guidelines” used for partner synthesis. We view the configuration process as an external service, and compute a characterization of all such services which meet particular requirements via the notion of configuration guideline. As a result, we can characterize all feasible configurations (i. e., configurations without behavioral problems) at design time, instead of repeatedly checking each individual configuration while configuring a process model.

Characterisation of the TaNF-Y family of transcription factors in wheat

Light plays a unique role for plants as it is both a source of energy for growth and a signal for development. Light captured by the pigments in the light harvesting complexes is used to drive the synthesis of the chemical energy required for carbon assimilation. The light perceived by photoreceptors activates effectors, such as transcription factors (TFs), which modulate the expression of light-responsive genes. Recently, it has been speculated that increasing the photosynthetic rate could further improve the yield potential of three carbon (C3) crops such as wheat. However, little is currently known about the transcriptional regulation of photosynthesis genes, particularly in crop species. Nuclear factor Y (NF-Y) TF is a functionally diverse regulator of growth and development in the model plant species, with demonstrated roles in embryo development, stress response, flowering time and chloroplast biogenesis. Furthermore, a light-responsive NF-Y binding site (CCAAT-box) is present in the promoter of a spinach photosynthesis gene. As photosynthesis genes are co-regulated by light and co-regulated genes typically have similar regulatory elements in their promoters, it seems likely that other photosynthesis genes would also have light-responsive CCAAT-boxes. This provided the impetus to investigate the NF-Y TF in bread wheat. This thesis is focussed on wheat NF-Y members that have roles in light-mediated gene regulation with an emphasis on their involvement in the regulation of photosynthesis genes. NF-Y is a heterotrimeric complex, comprised of the three subunits NF-YA, NF-YB and NF-YC. Unlike the mammalian and yeast counterparts, each of the three subunits is encoded by multiple genes in Arabidopsis. The initial step taken in this study was the identification of the wheat NF-Y family (Chapter 3). A search of the current wheat nucleotide sequence databases identified 37 NF-Y genes (10 NF-YA, 11 NF-YB, 14 NF-YC & 2 Dr1). Phylogenetic analysis revealed that each of the three wheat NF-Y (TaNF-Y) subunit families could be divided into 4-5 clades based on their conserved core regions. Outside of the core regions, eleven motifs were identified to be conserved between Arabidopsis, rice and wheat NF-Y subunit members. The expression profiles of TaNF-Y genes were constructed using quantitative real-time polymerase chain reaction (RT-PCR). Some TaNF-Y subunit members had little variation in their transcript levels among the organs, while others displayed organ-predominant expression profiles, including those expressed mainly in the photosynthetic organs. To investigate their potential role in light-mediated gene regulation, the light responsiveness of the TaNF-Y genes were examined (Chapters 4 and 5). Two TaNF-YB and five TaNF-YC members were markedly upregulated by light in both the wheat leaves and seedling shoots. To identify the potential target genes of the light-upregulated NF-Y subunit members, a gene expression correlation analysis was conducted using publically available Affymetrix Wheat Genome Array datasets. This analysis revealed that the transcript expression levels of TaNF-YB3 and TaNF-YC11 were significantly correlated with those of photosynthesis genes. These correlated express profiles were also observed in the quantitative RT-PCR dataset from wheat plants grown under light and dark conditions. Sequence analysis of the promoters of these wheat photosynthesis genes revealed that they were enriched with potential NF-Y binding sites (CCAAT-box). The potential role of TaNF-YB3 in the regulation of photosynthetic genes was further investigated using a transgenic approach (Chapter 5). Transgenic wheat lines constitutively expressing TaNF-YB3 were found to have significantly increased expression levels of photosynthesis genes, including those encoding light harvesting chlorophyll a/b-binding proteins, photosystem I reaction centre subunits, a chloroplast ATP synthase subunit and glutamyl-tRNA reductase (GluTR). GluTR is a rate-limiting enzyme in the chlorophyll biosynthesis pathway. In association with the increased expression of the photosynthesis genes, the transgenic lines had a higher leaf chlorophyll content, increased photosynthetic rate and had a more rapid early growth rate compared to the wild-type wheat. In addition to its role in the regulation of photosynthesis genes, TaNF-YB3 overexpression lines flower on average 2-days earlier than the wild-type (Chapter 6). Quantitative RT-PCR analysis showed that there was a 13-fold increase in the expression level of the floral integrator, TaFT. The transcript levels of other downstream genes (TaFT2 and TaVRN1) were also increased in the transgenic lines. Furthermore, the transcript levels of TaNF-YB3 were significantly correlated with those of constans (CO), constans-like (COL) and timing of chlorophyll a/b-binding (CAB) expression 1 [TOC1; (CCT)] domain-containing proteins known to be involved in the regulation of flowering time. To summarise the key findings of this study, 37 NF-Y genes were identified in the crop species wheat. An in depth analysis of TaNF-Y gene expression profiles revealed that the potential role of some light-upregulated members was in the regulation of photosynthetic genes. The involvement of TaNF-YB3 in the regulation of photosynthesis genes was supported by data obtained from transgenic wheat lines with increased constitutive expression of TaNF-YB3. The overexpression of TaNF-YB3 in the transgenic lines revealed this NF-YB member is also involved in the fine-tuning of flowering time. These data suggest that the NF-Y TF plays an important role in light-mediated gene regulation in wheat.

The social orders of family mealtime

This study examined the everyday practices of families within the context of family mealtime to investigate how members accomplished mealtime interactions. Using an ethnomethodological approach, conversation analysis and membership categorization analysis, the study investigated the interactional resources that family members used to assemble their social orders moment by moment during family mealtimes. While there is interest in mealtimes within educational policy, health research and the media, there remain few studies that provide fine-grained detail about how members produce the social activity of having a family meal. Findings from this study contribute empirical understandings about families and family mealtime. Two families with children aged 2 to 10 years were observed as they accomplished their everyday mealtime activities. Data collection took place in the family homes where family members video recorded their naturally occurring mealtimes. Each family was provided with a video camera for a one-month period and they decided which mealtimes they recorded, a method that afforded participants greater agency in the data collection process and made available to the analyst a window into the unfolding of the everyday lives of the families. A total of 14 mealtimes across the two families were recorded, capturing 347 minutes of mealtime interactions. Selected episodes from the data corpus, which includes centralised breakfast and dinnertime episodes, were transcribed using the Jeffersonian system. Three data chapters examine extended sequences of family talk at mealtimes, to show the interactional resources used by members during mealtime interactions. The first data chapter explores multiparty talk to show how the uniqueness of the occasion of having a meal influences turn design. It investigates the ways in which members accomplish two-party talk within a multiparty setting, showing how one child "tells" a funny story to accomplish the drawing together of his brothers as an audience. As well, this chapter identifies the interactional resources used by the mother to cohort her children to accomplish the choralling of grace. The second data chapter draws on sequential and categorical analysis to show how members are mapped to a locally produced membership category. The chapter shows how the mapping of members into particular categories is consequential for social order; for example, aligning members who belong to the membership category "had haircuts" and keeping out those who "did not have haircuts". Additional interactional resources such as echoing, used here to refer to the use of exactly the same words, similar prosody and physical action, and increasing physical closeness, are identified as important to the unfolding talk particularly as a way of accomplishing alignment between the grandmother and grand-daughter. The third and final data analysis chapter examines topical talk during family mealtimes. It explicates how members introduce topics of talk with an orientation to their co-participant and the way in which the take up of a topic is influenced both by the sequential environment in which it is introduced and the sensitivity of the topic. Together, these three data chapters show aspects of how family members participated in family mealtimes. The study contributes four substantive themes that emerged during the analytic process and, as such, the themes reflect what the members were observed to be doing. The first theme identified how family knowledge was relevant and consequential for initiating and sustaining interaction during mealtime with, for example, members buying into the talk of other members or being requested to help out with knowledge about a shared experience. Knowledge about members and their activities was evident with the design of questions evidencing an orientation to coparticipant’s knowledge. The second theme found how members used topic as a resource for social interaction. The third theme concerned the way in which members utilised membership categories for producing and making sense of social action. The fourth theme, evident across all episodes selected for analysis, showed how children’s competence is an ongoing interactional accomplishment as they manipulated interactional resources to manage their participation in family mealtime. The way in which children initiated interactions challenges previous understandings about children’s restricted rights as conversationalists. As well as making a theoretical contribution, the study offers methodological insight by working with families as research participants. The study shows the procedures involved as the study moved from one where the researcher undertook the decisions about what to videorecord to offering this decision making to the families, who chose when and what to videorecord of their mealtime practices. Evident also are the ways in which participants orient both to the video-camera and to the absent researcher. For the duration of the mealtime the video-camera was positioned by the adults as out of bounds to the children; however, it was offered as a "treat" to view after the mealtime was recorded. While situated within family mealtimes and reporting on the experiences of two families, this study illuminates how mealtimes are not just about food and eating; they are social. The study showed the constant and complex work of establishing and maintaining social orders and the rich array of interactional resources that members draw on during family mealtimes. The family���s interactions involved members contributing to building the social orders of family mealtime. With mealtimes occurring in institutional settings involving young children, such as long day care centres and kindergartens, the findings of this study may help educators working with young children to see the rich interactional opportunities mealtimes afford children, the interactional competence that children demonstrate during mealtimes, and the important role/s that adults may assume as co-participants in interactions with children within institutional settings.

Test of a model of the effects of parental illness on youth and family functioning

Objective: Parental illness (PI) may have adverse impacts on youth and family functioning. Research in this area has suffered from the absence of a guiding comprehensive framework. This study tested a conceptual model of the effects of PI on youth and family functioning derived from the Family Ecology Framework (FEF; Pedersen & Revenson, 2005). Method. A total of 85 parents with multiple sclerosis and 127 youth completed questionnaires at Time 1 and 12 months later at Time 2. Results. Structural equation modeling results supported the FEF with regards to physical-illness disability. Specifically, the proposed mediators (role redistribution, stress, and stigma) were implicated in the processes that link parental disability to several domains of youth adjustment. The results suggest that the effects of parental depression (PD) are not mediated through these processes; rather, PD directly affects family functioning, which in turn mediates the effects onto youth adjustment. Family functioning further mediated between PD and youth well-being and behavioral-social difficulties. Conclusions. Although results support the effects of parental-illness disability on youth and family functioning via the proposed mediational mechanisms, the additive effects of PD on youth physical and mental health occur through direct and indirect (via family functioning) pathways, respectively.

Lawyers' role options in family dispute resolution

Both family lawyers and family dispute resolution practitioners are“gatekeepers” to the family law system.In this article the authors explore,with reference to recent research, the characteristics shown to be present in successful collaborative relationships between these two groups of professionals. They then apply Rundle’s spectrum of contributions that lawyers can make to mediation to the family law context and explore the various role options for family lawyers in family dispute resolution.

The application of Bowen’s family system theory (BFST) to the Malay population in Malaysia

The rapid economic development and social changes in Malaysia recently have led to many psychosocial problems in young people, such as drug addiction, child sexual abuse and mental illness. The Malaysian government is beginning to focus more attention on its social welfare and human service needs in order to alleviate these psychosocial problems. Although counselling is accepted and widespread in Malaysia, the practice of family therapy is not as accepted as it is still a widely held belief that family problems need to be kept within the family. However, changes are imminent and thus the theoretical basis of family therapy needs to be culturally relevant. Bowen‟s Family Systems Theory (BFST) is already one of the major theories taught to tertiary counselling students in Malaysian universities. The main tenet of Bowen‟s theory is that the family as a system may be unstable unless each member of the family is well differentiated. High differentiation levels in the family allow a person to both leave the family���s boundaries in search of uniqueness and to continually return to the family fold in order to establish a more mature sense of belonging. The difficulty, however, is that while Bowen has claimed that his theory is universal nearly all of the research confirming the theory has been conducted in the United States of America. The only known study outside America, however, did show that Bowen‟s theory applied to a Filipino population but, one of the theory‟s propositions that differentiation is intergenerational was not supported in this non-American sample. The American sample that was compared to the Malay sample was taken from Skowron and Friedlander‟s (1998) study. One hundred and twenty-seven faculty staff in an American university completed the Differentiation of Self Inventory (DSI) to measure level of differentiation of self. This thesis therefore, set out to determine whether Bowen‟s theory applied to another non-American sample, the Malaysian community. The research also investigated if the intergenerational effect was present in the Malaysian sample as well as explored the role of socio-economic status on Bowen‟s theory of differentiation and gender effect. Three hundred and seventy-four families completed four measures to examine these research questions: the Differentiation of Self Inventory (DSI), the Family Inventory of Life Event (FILE), the Depression Anxiety and Stress Scale (DASS) and the Connor-Davidson Resilience Scale (CD-RISC). The results of the study showed that differentiation of self is a valid construct for the Malay population. However, all four subscales of the Differentiation of Self Inventory (DSI); emotional reactivity (ER), emotional cut-off (EC), fusion with other (FO) and I position (IP), showed significant differences compared to the American sample from Skowron and Friedlander‟s (1998) study. The Malay sample scored higher in emotional reaction (ER), fusion with other (FO), but lower on emotional cut-off (EC) and I position (IP) than the American sample. The intergenerational effect was found in the Malay population as the parent‟s level of differentiation correlated with their children‟s level of differentiation. It was found that stress as measured by the Family Inventory of Life Event (FILE) and as measured by the Depression Anxiety and Stress Scale (DASS) were not correlated with the level of differentiation of self in parents. However, gender had a significant effect in predicting the level of differentiation among parents in Malay population with females scores higher on emotional reactivity (ER) and fusion with other (FO) than males. An additional finding was that resilience can be predicted from the level of differentiation of self in children in the Malay sample. There was also a positive correlation between the level of differentiation of self in parents and resilience in their children. Findings from this study indicate that the concept of differentiation of self is applicable to a Malay sample; however, the implementation of the theory should be applied with cultural sensitivity.

Sustainable housing: family experiences with supply chain ethics

Climate change, resource depletion and increasing urbanization are converging global issues that are challenging the way we design, construct and operate buildings. The housing sector is a significant contributor to these global issues through consumption of limited resources, waste generation and disposal (solid, liquid and atmospheric waste) and negative human health impacts (Senick 2006). Although the design and construction of ‘sustainable housing’ would appear to be an obvious and technically feasible solution, there remains multi-faceted issues affecting the delivery of sustainable housing (Holloway and Bunker 2006). Two fundamental issues - what makes a house sustainable, and to what extent regulation should be used to deliver sustainability - have been, and continue to be, debated at multiple levels in society. Despite personal, professional and political views on these issues, three key characteristics of the whole housing supply chain require fundamental change if we are to successfully address sustainability challenges (Birkeland 2008). These include: fragmentation; established methods, practices and processes, and the relationships between players. A more in-depth understanding of the role of ethics (values, beliefs and standards) and potential ethical conflicts within the supply chain will assist in better defining the nature of the fundamental changes required...

Application of Geographic Modeling Techniques to Quantify Spatial Access to Health Services Before and After an Acute Cardiac Event: The Cardiac ARIA Project

Background: Access to cardiac services is essential for appropriate implementation of evidence-based therapies to improve outcomes. The Cardiac Accessibility and Remoteness Index for Australia (Cardiac ARIA) aimed to derive an objective, geographic measure reflecting access to cardiac services. Methods: An expert panel defined an evidence-based clinical pathway. Using Geographic Information Systems (GIS), a numeric/alpha index was developed at two points along the continuum of care. The acute category (numeric) measured the time from the emergency call to arrival at an appropriate medical facility via road ambulance. The aftercare category (alpha) measured access to four basic services (family doctor, pharmacy, cardiac rehabilitation, and pathology services) when a patient returned to their community. Results: The numeric index ranged from 1 (access to principle referral center with cardiac catheterization service ≤ 1 hour) to 8 (no ambulance service, > 3 hours to medical facility, air transport required). The alphabetic index ranged from A (all 4 services available within 1 hour drive-time) to E (no services available within 1 hour). 13.9 million (71%) Australians resided within Cardiac ARIA 1A locations (hospital with cardiac catheterization laboratory and all aftercare within 1 hour). Those outside Cardiac 1A were over-represented by people aged over 65 years (32%) and Indigenous people (60%). Conclusion: The Cardiac ARIA index demonstrated substantial inequity in access to cardiac services in Australia. This methodology can be used to inform cardiology health service planning and the methodology could be applied to other common disease states within other regions of the world.

Communicating with the coroner : how religion, culture, and family concerns may influence autopsy decision making

Based on coronial data gathered in the state of Queensland in 2004, this article reviews how a change in legislation may have impacted autopsy decision making by coroners. More specifically, the authors evaluated whether the requirement that coronial autopsy orders specify the level of invasiveness of an autopsy to be performed by a pathologist was affected by the further requirement that coroners take into consideration a known religion, culture, and/or raised family concern before making such an order. Preliminary data reveal that the cultural status of the deceased did not affect coronial autopsy decision making. However, a known religion with a proscription against autopsy and a raised family concern appeared to be taken into account by coroners when making autopsy decisions and tended to decrease the invasiveness of the autopsy ordered from a full internal examination to either a partial internal examination or an external-only examination of the body. The impact of these findings is briefly discussed.

A systematic review : the effects of orientation programs for cancer patients and their family/carers

Objectives To assess the effects of information interventions which orient patients and their carers/family to a cancer care facility and the services available within the facility. Design Systematic review of randomised controlled trials (RCTs), cluster RCTs and quasi-RCTs. Data sources MEDLINE, CINAHL, PsycINFO, EMBASE and the Cochrane Central Register of Controlled Trials. Methods We included studies evaluating the effect of an orientation intervention, compared with a control group which received usual care, or with trials comparing one orientation intervention with another orientation intervention. Results Four RCTs of 610 participants met the criteria for inclusion. Findings from two RCTs demonstrated significant benefits of the orientation intervention in relation to reduced levels of distress (mean difference (MD): −8.96, 95% confidence interval (95%CI): −11.79 to −6.13), but non-significant benefits in relation to the levels state anxiety levels (MD −9.77) (95%CI: −24.96 to 5.41). There are insufficient data on the other outcomes of interest. Conclusions This review has demonstrated the feasibility and some potential benefits of orientation interventions. There was a low level of evidence to suggest that orientation interventions can reduce distress in patients. However, other outcomes, including patient knowledge recall/satisfaction, remain inconclusive. The majority of trials were subjected to high risk of bias and were likely to be insufficiently powered. Further well conducted and powered RCTs are required to provide evidence for determining the most appropriate intensity, nature, mode and resources for such interventions. Patient and carer-focused outcomes should be included.

Enhancing resilience in indigenous people: The integration of individual, family and community interventions

This paper describes a number of interventions being developed to address the emotional, social and behavioural problems experienced by Aboriginal people in Australia. These are: the We-Al-Li program to help people deal with the impact of transgenerational trauma; and the RAP Indigenous Parenting Program. It is argued that the emotional well being of indigenous people will be enhanced through the integration of interventions targeting the individual, family and community.