Linkage mapping of CVD risk traits in the isolated Norfolk Island population

To understand the underlying genetic architecture of cardiovascular disease (CVD) risk traits, we undertook a genome-wide linkage scan to identify CVD quantitative trait loci (QTLs) in 377 individuals from the Norfolk Island population. The central aim of this research focused on the utilization of a genetically and geographically isolated population of individuals from Norfolk Island for the purposes of variance component linkage analysis to identify QTLs involved in CVD risk traits. Substantial evidence supports the involvement of traits such as systolic and diastolic blood pressures, high-density lipoprotein-cholesterol, low-density lipoprotein-cholesterol, body mass index and triglycerides as important risk factors for CVD pathogenesis. In addition to the environmental inXuences of poor diet, reduced physical activity, increasing age, cigarette smoking and alcohol consumption, many studies have illustrated a strong involvement of genetic components in the CVD phenotype through family and twin studies. We undertook a genome scan using 400 markers spaced approximately 10 cM in 600 individuals from Norfolk Island. Genotype data was analyzed using the variance components methods of SOLAR. Our results gave a peak LOD score of 2.01 localizing to chromosome 1p36 for systolic blood pressure and replicated previously implicated loci for other CVD relevant QTLs.

Genetic response to combined family selection for improved mean harvest weight in giant freshwater prawn (Macrobrachium rosenbergii) in Vietnam

We estimated genetic changes in body and carcass weight traits in a giant freshwater prawn (GFP) (Macrobrachium rosenbergii) population selected for increased body weight at harvest in Vietnam. The data set consisted of 18,387 individual body and 1730 carcass weight records, as well as full pedigree information collected over four generations. Average selection response (per generation) in body weight at harvest (transformed to square root) estimated as the difference between the Selection line and the Control group was 7.4% calculated from least squares mean (LSMs), 7.0% from estimated breeding values (EBVs) and 4.4% calculated from EBVs between two consecutive generations. Favorable correlated selection responses (estimated from LSMs) were found for other body traits including: total length, cephalothorax length, abdominal length, cephalothorax width, and abdominal width (12.1%, 14.5%, 10.4%, 15.5% and 13.3% over three selection generations, respectively). Data in the second generation of selection showed positive correlated responses for carcass weight traits including: abdominal weight, exoskeleton-off weight, and telson-off weight of 8.8%, 8.6% and 8.8%, respectively. We conclude that body weight at harvest responded well to the application of combined (between and within) family selection and correlated responses in carcass weight traits were favorable.

A typical migraine susceptibility region localizes to chromosome 1q31

Migraine (with and without aura) is a prevalent neurovascular disease that shows strong familial aggregation, although the number of genes involved and the mode of inheritance is not clear. Some insight into the disease has been gained from genetic studies into a rare and very severe migraine subtype known as familial hemiplegic migraine (FHM). In this study, we took a family-based linkage and association approach to investigate the FHM susceptibility region on chromosome 1q31 for involvement in typical migraine susceptibility in affected Australian pedigrees. Initial multipoint ALLEGRO analysis provided strong evidence for linkage of Chrlq31 markers to typical migraine in a large multigenerational pedigree. The 1-LOD* unit support interval for suggestive linkage spanned approximately 18 cM with a maximum allele sharing LOD* score of 3.36 obtained for marker D1S2782 (P=0.00004). Subsequent analysis of an independent sample of 82 affected pedigrees added support to the initial findings with a maximum LOD* of 1.24 (P=0.008). Utilising the independent sample of 82 pedigrees, we also performed a family-based association test. Results of this analysis indicated distortion of allele transmission at marker D1S249 [global chi2 (5) of 15.00, P=0.010] in these pedigrees. These positive linkage and association results will need further confirmation by independent researchers. However, overall they provide good evidence for the existence of a typical migraine locus near these markers on Chrlq3l, and reinforce the idea that an FHM gene in this genomic region may also contribute to susceptibility to the more common forms of migraine.

Role salience and support as moderators of demand/conflict relationships in China

This study examined the effects of role demand on both work–family conflict and family–work conflict, and the moderating effects of role salience and support on these relationships. Based on 391 dual-career (managerial and blue-collar employees) couples from a Taiwanese company in China, the results of this survey study showed clear gender differences in the patterns of relationships observed. For men, the most important demands that negatively impacted on work–family conflict were frequency of overtime and frequency of socializing for work purposes (yingchou), and supervisory support buffered the negative impact of frequent overtime. For women however, strong supervisory support and low work role salience were more important for reducing work–family conflict, and there was no significant main effect found for any of the role demand factors. Furthermore, women with high work role salience were more likely to feel the impact of yingchou on work–family conflict. In the family domain, the most influential demand for men was hours spent on household tasks, but for women, it was the frequency of family-related leave. Interestingly, males reported higher family role salience than females and spouse support intensified rather than buffered the positive impact of hours spent on household tasks on family–work conflict for males.

Investigation of the CACNA1A gene as a candidate for typical migraine susceptibility

Typical migraine is a complex neurological disorder comprised of two main subtypes: migraine with (MA) and without aura (MO). The disease etiology is still unclear, but family studies provide strong evidence that defective genes play an important role. Familial hemiplegic migraine (FHM) is a very rare and severe subtype of MA. It has been proposed that FHM and MA may have a similar genetic etiology. Therefore, genetic studies on FHM provide a useful model for investigating the more prevalent types of typical migraine. FHM in some families has been shown to be caused by mutations in a brain-specific P/Q-type calcium channel alpha1 subunit gene (CACNA1A) on chromosome 19p13. There has also been a report of a CACNA1A mutation being associated with MA in a patient from a family with predominant FHM. We have previously demonstrated suggestive linkage of typical migraine in a large Australian family to the FHM region on chromosome 19p13. These findings suggest that CACNA1A may also be implicated in the etiology of typical migraine in this pedigree. To investigate this possibility, we sequenced two patients carrying the critical susceptibility haplotype surrounding CACNA1A. No disease-causing mutations or polymorphisms were revealed in any of the 47 exons screened. To determine whether the CACNA1A gene was implicated in typical migraine susceptibility in the general Caucasian population, we also analyzed 82 independent pedigrees and a large case control group. We did not detect any linkage or association in these groups and conclude that if CACNA1A plays a role in typical migraine, it does not confer a major effect on the disease.

Evidence for allelic association of the dopamine β-hydroxylase gene (DBH) with susceptibility to typical migraine

Migraine is a debilitating neurological disorder characterized by recurrent attacks of severe headache. The disorder is highly prevalent, affecting approximately 12% of Caucasian populations. It is well known that migraine has a strong genetic component, although the type and number of genes involved is not yet clear. However, the calcium channel gene, CACNA1A, on chromosome 19 contains mutations responsible for familial hemiplegic migraine, a rare and severe subtype of migraine. There is also evidence to suggest that serotonin- and dopamine-related genes may be involved in the pathogenesis of migraine. This study employed a linkage and association approach to investigate neurotransmitter-related migraine candidate genes. Polymorphisms within the dopamine beta-hydroxylase (DBH) gene, serotonin transporter gene (SERT), and dopamine receptor gene (DRD2) were tested in 177 unrelated Caucasian migraineurs and 182 control individuals. In addition, an independent sample of 82 families affected with migraine was examined. Unrelated case-control association analysis of a DBH intragenic dinucleotide polymorphism indicated altered allelic distribution between migraine and control groups (L2=16.53, P=0.019). Furthermore, the transmission/disequilibrium test, which was implemented on the family data, also indicated distortion of allele transmission for the same DBH marker (L2=4.44, P=0.035). Together, these results provide evidence for allelic association of the DBH gene with typical migraine susceptibility (Fisher's combined P value=0.006) and indicate that further research into the role of the DBH gene in the etiology of migraine is warranted.

Postnatal depression in Central Vietnam

Postnatal depression (PND) is a significant global health issue, which not only impacts maternal wellbeing, but also infant development and family structures. Mental health disorders represent approximately 14% of global burden of disease and disability, including low and middle-income countries (LMIC), and PND has direct relevance to the Millennium Development Goals of reducing child mortality, improving maternal health, and creating global partnerships (United Nations, 2012; Guiseppe, Becker & Farmer, 2011). Emerging evidence suggests that PND in LMIC is similar to, or higher than in high-income countries (HIC), however, less than 10% of LMIC have prevalence data available (Fisher, Cabral de Mello, & Izutsu 2009; Lund et al., 2011). Whilst a small number of studies on maternal mental disorders have been published in Vietnam, only one specifically focuses on PND in a hospital-based sample. Also, community based mental health studies and information on mental health in rural areas of Vietnam is still scarce. The purpose of this study was to determine the prevalence of PND, and its associated social determinants in postnatal women in Thua Thien Hue Province, Central Vietnam. In order to identify social determinants relevant to the Central Vietnamese context, two qualitative studies and one community survey were undertaken. Associations between maternal mental health and infant health outcomes were also explored. The study was comprised of three phases. Firstly, iterative, qualitative interviews with Vietnamese health professionals (n = 17) and postpartum women (n = 15) were conducted and analysed using Kleinman's theory of explanatory models to identify narratives surrounding PND in the Vietnamese context (Kleinman, 1978). Secondly, a participatory concept mapping exercise was undertaken with two groups of health professionals (n = 12) to explore perceived risk and protective factors for postnatal mental health. Qualitative phases of the research elucidated narratives surrounding maternal mental health in the Vietnamese context such as son preference, use of traditional medicines, and the popularity of confinement practices such as having one to three months of complete rest. The qualitative research also revealed the construct of depression was not widely recognised. Rather, postpartum changes in mood were conceptualised as a loss of 'vital strength' following childbirth or 'disappointment'. Most women managed postpartum changes in mood within the family although some sought help from traditional medicine practitioners or biomedical doctors. Thirdly, a cross-sectional study of twelve randomly selected communes (six urban, six rural) in Thua Thien Hue Province was then conducted. Overall, 465 women with infants between 4 weeks and six months old participated, and 431 questionnaires were analysed. Women from urban (n = 216) and rural (n = 215) areas participated. All eligible women completed a structured interview about their health, basic demographics, and social circumstances. Maternal depression was measured using the Edinburgh Postnatal Depression Scale (EPDS) as a continuous variable. Multivariate generalised linear regression was conducted using PASW Statistics version 18.0 (2009). When using the conventional EPDS threshold for probable depression (EPDS score ~ 13) 18.1% (n = 78) of women were depressed (Gibson, McKenzie-McHarg, Shakespeare, Price & Gray, 2009). Interestingly, 20.4% of urban women (n = 44) had EPDS scores~ 13, which was a higher proportion than rural women, where 15.8% (n = 34) had EPDS scores ~ 13, although this difference was not statistically significant: t(429) = -0.689, p = 0.491. Whilst qualitative narratives identified infant gender and family composition, and traditional confinement practices as relevant to postnatal mood, these were not statistically significant in multivariate analysis. Rather, poverty, food security, being frightened of your husband or family members, experiences of intimate partner violence and breastfeeding difficulties had strong statistical associations. PND was also associated with having an infant with diarrhoea in the past two weeks, but not infant malnutrition or acute respiratory infections. This study is the first to explore maternal mental health in Central Vietnam, and provides further evidence that PND is a universally experienced phenomenon. The independent social risk factors of depressive symptoms identified such as poverty, food insecurity, experiences of violence and powerlessness, and relationship adversity points to women in a context of social suffering which is relevant throughout the world (Kleinman, Das & Lock, 1997). The culturally specific risk factors explored such as infant gender were not statistically significant when included in a multivariable model. However, they feature prominently in qualitative narratives surrounding PND in Vietnam, both in this study and previous literature. It appears that whilst infant gender may not be associated with PND per se, the reactions of close relatives to the gender of the baby can adversely affect maternal wellbeing. This study used a community based participatory research approach (CBPR) (Israel.2005). This approach encourages the knowledge produced to be used for public health interventions and workforce training in the community in which the research was conducted, and such work has commenced. These results suggest that packages of interventions for LMIC devised to address maternal mental health and infant wellbeing could be applied in Central Vietnam. Such interventions could include training lay workers to follow up postpartum women, and incorporating mental health screening and referral into primary maternal and child health care (Pate! et al., 2011; Rahman, Malik, Sikander & Roberts, 2008). Addressing the underlying social determinants of PND through poverty reduction and violence elimination programs is also recommended.

From production to purpose : using design led innovation to Build Strategic Potential in a Family-Owned SME

There is an evident need to develop the strategic capabilities of companies from within, to ensure competitive competence in a time where strategy is a necessity. This paper is based on the first 4 months of a longitudinal embedded case study of a family-owned Australian small to medium enterprise, in their journey towards design integration. The first author was embedded as a ‘Design Innovation Catalyst’ to collaborate on overcoming early barriers of strategic development, using design led innovation. Action research methodology, semi-structured interviews with seven out of eight employees and a reflective journal revealed the absence of a shared vision, conflicting drivers and a focus on operational efficiency rather than strategy. Through the Catalyst’s facilitation, a company vision, general awareness, practice and knowledge in strategic development have emerged as the first steps to generating strategic design competence within the firm.

Unpacking the opportunities for change within a family owned manufacturing sme : a design led innovation case study

This thesis explored how an Australian, family owned, manufacturing firm responded to a design led innovation approach as conducted by the action researcher. Specifically, it investigated the barriers and opportunities that arose within the firm when trying to affect change to drive innovation. In doing so, key opportunities were identified that could help the firm to integrate a design led approach and remain competitive within an increasingly accessible global marketplace.

End-of-life care in the critical care setting : nurses' practices and factors affecting these practices

Background: Critical care units are designed and resourced to save lives, yet the provision of end-of-life care is a significant component of nursing work in these settings. Limited research has investigated the actual practices of critical care nurses in the provision of end-of-life care, or the factors influencing these practices. To improve the care that patients at the end of life and their families receive, and to support nurses in the provision of this care, further research is needed. The purpose of this study was to identify critical care nurses' end-of-life care practices, the factors influencing the provision of end-of-life care and the factors associated with specific end-of-life care practices. Methods: A three-phase exploratory sequential mixed-methods design was utilised. Phase one used a qualitative approach involving interviews with a convenience sample of five intensive care nurses to identify their end-of-life care experiences and practices. In phase two, an online survey instrument was developed, based on a review of the literature and the findings of phase one. The survey instrument was reviewed by six content experts and pilot tested with a convenience sample of 28 critical care nurses (response rate 45%) enrolled in a postgraduate critical care nursing subject. The refined survey instrument was used in phase three of this study to conduct a national survey of critical care nurses. Descriptive analyses, exploratory factor analysis and univariate general linear modelling was undertaken on completed survey responses from 392 critical care nurses (response rate 25%). Results: Six end-of-life care practice areas were identified in this study: information sharing, environmental modification, emotional support, patient and family-centred decision making, symptom management and spiritual support. The items most frequently identified as always undertaken by critical care nurses in the provision of end-of-life care were from the information sharing and environmental modification practice areas. Items least frequently identified as always undertaken included items from the emotional support practice area. Eight factors influencing the provision of end-of-life care were identified: palliative values, patient and family preferences, knowledge, preparedness, organisational culture, resources, care planning, and emotional support for nurses. Strong agreement was noted with items reflecting values consistent with a palliative approach and inclusion of patient and family preferences. Variation was noted in agreement for items regarding opportunities for knowledge acquisition in the workplace and formal education, yet most respondents agreed that they felt adequately prepared. A context of nurse-led practice was identified, with variation in access to resources noted. Collegial support networks were identified as a source of emotional support for critical care nurses. Critical care nurses reporting values consistent with a palliative approach and/or those who scored higher on support for patient and family preferences were more likely to be engaged in end-of-life care practice areas identified in this study. Nurses who reported higher levels of preparedness and access to opportunities for knowledge acquisition were more likely to report engaging in interpersonal practices that supported patient and family centred decision making and emotional support of patients and their families. A negative relationship was identified between the explanatory variables of emotional support for nurses and death anxiety, and the patient and family centred decision making practice area. Contextual factors had a limited influence as explanatory variables of specific end-of-life care practice areas. Gender was identified as a significant explanatory variable in the emotional and spiritual support practice areas, with male gender associated with lower summated scores on these practice scales. Conclusions: Critical care nurses engage in practices to share control with and support inclusion of families experiencing death and dying. The most frequently identified end-of-life care practices were those that are easily implemented, practical strategies aimed at supporting the patient at the end of life and the patient's family. These practices arguably require less emotional engagement by the nurse. Critical care nurses' responses reflected values consistent with a palliative approach and a strong commitment to the inclusion of families in end-of-life care, and these factors were associated with engagement in all end-of-life care practice areas. Perceived preparedness or confidence with the provision of end-of-life care was associated with engagement in interpersonal caring practices. Critical care nurses autonomously engage in the provision of end-of-life care within the constraints of an environment designed for curative care and rely on their colleagues for emotional support. Critical care nurses must be adequately prepared and supported to provide comprehensive care in all areas of end-of-life care practice. The findings of this study raise important implications, and informed recommendations for practice, education and further research.

Family representatives in family firms

Research Question/Issue: Family control in family firms can extend beyond the direct involvement of family members, but identifying these mechanisms is difficult in most markets. We utilize unique disclosures made by Taiwanese firms to examine the role played by family representatives in listed family firms. Family representatives are non-family members that represent the controlling family’s indirect shareholdings in the firm. We examine whether family representatives are used in the same manner as family members and whether they provide net benefits or costs to shareholders. Research Findings/Insights: In our sample of listed family firms, we find that omitting family representatives understates the influence of controlling families by 46 percent. We show that family representatives are associated with net costs to shareholders, but to a lesser extent than family members. We also find that controlling families use family members and family representatives differently. Family members are more involved in older family firms and in firms founded by the family. Family representatives are more involved in acquired and second generation family firms and in larger firms with more fixed assets. Theoretical/Academic Implications: We apply agency theory to the use of family representatives and show that family representatives are being used by controlling families to extend their influence within their firms, increasing agency costs to minority shareholders. Practitioner/Policy Implications: For policymakers, our analysis shows that disclosure of family member and representative relationships within firms is important and value-relevant to investors. Furthermore, our results suggest that firm performance could be improved by limiting the involvement of family members and family representatives in family firms.

Posttraumatic growth in family members living with a relative diagnosed with schizophrenia

Family members living with a relative diagnosed with schizophrenia have reported challenges and traumatic stressors, as well as perceived benefits and personal growth. This study explored factors associated with posttraumatic growth (PTG) within such families. Personality, stress, coping, social support and PTG were assessed in 110 family members. Results revealed that a multiplicative mediational path model with social support and emotional or instrumental coping strategies as multi-mediators had a significant indirect effect on the relationship between extraversion and PTG. Clinically relevant concepts that map onto the multi-mediator model are discussed, translating these findings into clinical practice to facilitate naturally occurring PTG processes.

Developmental lessons from the Capricornia Arts Mob (CAM)

The Capricornia Arts Mob (CAM) is a collective of Aboriginal and Torres Strait Islander visual artists, sculptors, photographers, carvers and writers based in the Rockhampton region of Central Queensland. This paper explores the early development of CAM, identifies some of the lessons its members have learned about working together, and considers its role as a regional artists’ collective. The authors identify that traditional Indigenous practices, such as yarning and the sharing of food, have helped to facilitate the emergence of CAM as a vibrant, challenging, eclectic artistic family. They recognise the cultural challenges faced by the collective – including finding a culturally appropriate place to meet and work, and the cross-cultural issues that can emerge within Aboriginal and Torres Strait Islander groups. In just 18 months, CAM has held successful exhibitions and developed public artworks. It is a strong part of regional Queensland’s arts scene, which supports emerging artists and provides a space to celebrate and support Indigenous art.