Lynch syndrome-associated breast cancers: clinicopathologic characteristics of a case series from the colon cancer family registry

Purpose: The recognition of breast cancer as a spectrum tumor in Lynch syndrome remains controversial. The aim of this study was to explore features of breast cancers arising in Lynch syndrome families. Experimental Design: This observational study involved 107 cases of breast cancer identified from the Colorectal Cancer Family Registry (Colon CFR) from 90 families in which (a) both breast and colon cancer co-occurred, (b) families met either modified Amsterdam criteria, or had at least one early-onset (<50 years) colorectal cancer, and (c) breast tissue was available within the biospecimen repository for mismatch repair (MMR) testing. Eligibility criteria for enrollment in the Colon CFR are available online. Breast cancers were reviewed by one pathologist. Tumor sections were stained for MLH1, PMS2, MSH2, and MSH6, and underwent microsatellite instability testing. Results: Breast cancer arose in 35 mutation carriers, and of these, 18 (51%) showed immunohistochemical absence of MMR protein corresponding to the MMR gene mutation segregating the family. MMR-deficient breast cancers were more likely to be poorly differentiated (P = 0.005) with a high mitotic index (P = 0.002), steroid hormone receptor–negative (estrogen receptor, P = 0.031; progesterone receptor, P = 0.022), and to have peritumoral lymphocytes (P = 0.015), confluent necrosis (P = 0.002), and growth in solid sheets (P < 0.001) similar to their colorectal counterparts. No difference in age of onset was noted between the MMR-deficient and MMR-intact groups. Conclusions: MMR deficiency was identified in 51% of breast cancers arising in known mutation carriers. Breast cancer therefore may represent a valid tissue option for the detection of MMR deficiency in which spectrum tumors are lacking

ACE research vignette 022 : family business succession : when death takes a hand

This series of research vignettes is aimed at sharing current and interesting research findings from our team of international Entrepreneurship researchers. In this vignette, Dr. Mervyn Morris considers the impact on family business operations due to the sudden and unexpected death of a key family member.

Why renal nurses cope so well with their workplace stressors

Background: Previous studies have found significant stressors experienced by nurses working in haemodialysis units yet renal nurses appear to report less burnout than other nurses. Objectives: This study aims to undertake an inductive process to better understand the stressors and the coping strategies used by renal nurses that may lead to resilience. Method: Sixteen haemodialysis nurses from a metropolitan Australian hospital and two satellite units participated in open-ended interviews. Data were analysed from a grounded theory methodology. Measures of burnout and resilience were also obtained. Results: Two major categories of stressors emerged. First, due to prolonged patient contact, family-like relationships developed that lead to the blurring of boundaries. Second, participants experienced discrimination from both patients and staff. Despite these stressors, the majority of participants reported low burnout and moderately high-to-high levels of resilience. The major coping strategy that appeared to promote resilience was emotional distancing, while emotional detachment appeared to promote burn-out. Conclusion: Assisting nurses to use emotional distancing, rather than emotional detachment strategies to engender a sense of personal achievement may promote resilience.

Intra-amniotic ureaplasma infection : adverse outcomes vary depending on gestation

Background: Ureaplasmas are the most prevalent bacteria isolated from preterm deliveries and the prognosis for neonates varies depending on the gestation at delivery. Ureaplasmas vary their surface-exposed antigen (MBA, a virulence mechanism) during chronic intra-amniotic infections, but it is not known when changes first occur during gestation. Method: U. parvum serovar 3 (2x10e7CFU) was injected intra-amniotically (IA) into six experimental cohorts of pregnant ewes (of n=7), 3 days (d) or 7d before delivery at either: 100d, 124d or 140d gestation (term=145d). Control ewes received IA 10B broth. Fetuses were delivered surgically and ureaplasmas cultured from amniotic fluid (AF), chorioamnion, fetal lung (FL) and umbilical cord. Ureaplasmas were tested by western blot to demonstrate MBA variation. Results: The highest number of ureaplasmas were recovered from FL at 100d gestation after 3 days of infection (p<0.03). Six of 7(86%) 100d–3d FL demonstrated an ureaplasma MBA variant, but only 17% and 15% of FL showed an MBA variant after 3d infection at 124d and 140d gestation respectively. Greatest variation of the MBA occurred in AF and FL at 124d gestation after 7d infection. The least MBA variation was observed at 140d; however, at this time the most severe histological chorioamnionitis was observed. Conclusions: After intra-amniotic ureaplasma injections, higher numbers of ureaplasmas gained access to the FL at 100d gestation than observed at later gestations. This may exacerbate the adverse outcomes for neonates delivered early in gestation. In late gestation, ureaplasma MBA variation was minimal, but chorioamnionitis was the most severe. Adverse pregnancy outcomes associated with IA ureaplasma infection may vary depending on the duration of gestation, the number of ureaplasmas isolated from the fetal tissues and the degree of MBA variation.

The social construction of prostitution in Californian 'John' Schools

The existence of prostitution in society continues to be a highly contested issue in both political and social arenas. With traditional criminal justice methods to address prostitution focussing predominantly on sex workers, newly formed initiatives have been created to target the demand side of prostitution. ‘John Schools’ – diversionary programs for clients, or ‘johns’ who have been arrested for prostitution offences – aim to educate participants on the various harms and risks associated with such behaviour and claim to provide an innovative means to reduce prostitution by decreasing demand for sexual services. It is evident however, that these programs perpetuate traditional social constructions of prostitution, characterising the act, and the actors, as sexually deviant. This paper examines the curriculum of these programs in order to identify how prostitution is constructed, firstly through the depiction of the victims in the program, and secondly through the characterisation of prostitution offenders. This paper argues that such initiatives merely extend the charge of sexual deviance from the sellers of sex to the buyers, and fail to acknowledge autonomy and choice for sex workers and clients.

'Savoir fare': are cooking skills a new morality

There has been a recent surge of interest in cooking skills in a diverse range of fields, such as health, education and public policy. There appears to be an assumption that cooking skills are in decline and that this is having an adverse impact on individual health and well-being, and family wholesomeness. The problematisation of cooking skills is not new, and can be seen in a number of historical developments that have specified particular pedagogies about food and eating. The purpose of this paper is to examine pedagogies on cooking skills and the importance accorded them. The paper draws on Foucault’s work on governmentality. By using examples from the USA, UK and Australia, the paper demonstrates the ways that authoritative discourses on the know how and the know what about food and cooking – called here ‘savoir fare’ – are developed and promulgated. These discourses, and the moral panics in which they are embedded, require individuals to make choices about what to cook and how to cook, and in doing so establish moral pedagogies concerning good and bad cooking. The development of food literacy programmes, which see cooking skills as life skills, further extends the obligations to ‘cook properly’ to wider populations. The emphasis on cooking knowledge and skills has ushered in new forms of government, firstly, through a relationship between expertise and politics which is readily visible through the authority that underpins the need to develop skills in food provisioning and preparation; secondly, through a new pluralisation of ‘social’ technologies which invites a range of private-public interest through, for example, television cooking programmes featuring cooking skills, albeit it set in a particular milieu of entertainment; and lastly, through a new specification of the subject can be seen in the formation of a choosing subject, one which has to problematise food choice in relation to expert advice and guidance. A governmentality focus shows that as discourses develop about what is the correct level of ‘savoir fare’, new discursive subject positions are opened up. Armed with the understanding of what is considered expert-endorsed acceptable food knowledge, subjects judge themselves through self-surveillance. The result is a powerful food and family morality that is both disciplined and disciplinary.

Avoidance of issues in family caregiving

Effective communication between older people and their family carers is necessary for providing appropriate and quality care. However, family carers and carereceivers may avoid discussing issues of concern and this may adversely affect the quality of the caring relationship. This study investigated the content of, and avoidance of issues in communication between 84 spousal and filial carers and carereceivers. The study findings indicate that family carers and carereceivers do avoid discussing issues of concern. Nurses working with families are well placed to promote more effective communication in the caring context to augment more satisfying caring relationships for both carers and carereceivers.

Preliminary reliability and validity testing of a self-efficacy questionnaire for Chinese family caregivers

Objectives: To develop and test preliminary reliability and validity of a Self-Efficacy Questionnaire for Chinese Family Caregivers (SEQCFC). Methods: A cross-sectional survey of 196 family caregivers (CGs) of people with dementia (CGs) was conducted to determine the factor structure of a SEQCFC of people with dementia. Following factor analyses, preliminary testing was performed, including internal consistency, 4-week test retest reliability, and construct and convergent validity. Results: Factor analyses with direct oblimin rotation were performed. Eight items were removed and five subscales(selfefficacy for gathering information about treatment, symptoms and health care; obtaining support; responding to behaviour disturbances; managing household, personal and medical care; and managing distress associated with caregiving) were identified. The Cronbach’s alpha coefficients for the whole scale and for each subscale were all over 0.80. The 4-week testretest reliabilities for the whole scale and for each subscale ranged from 0.64 to 0.85. The convergent validity was acceptable. Conclusions: Evidence for the preliminary testing of the SEQCFC was encouraging. A future follow-up study using confirmatory factor analysis with a new sample from different recruitment centres in Shanghai will be conducted. Future psychometric property testings of the questionnaire will be required for CGs from other regions of mainland China.

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.

Interventions for preventing abuse in the elderly (protocol)

This is the protocol for a review and there is no abstract. The objectives are as follows:The primary objective of the review is to assess the effectiveness of primary, secondary and tertiary intervention programmes utilised to reduce or prevent, or both, elderly abuse in organisational, institutional and community settings. We will also identify and report on adverse consequences or effects of the intervention/s in the review.The secondary objective is to investigate whether intervention?s effects are modified by types of abuse, types of participants, setting of intervention or cognitive status of the elderly.

Effect of family relatedness on characteristics of estimated IBD probabilities in relation to precision of QTL estimates

Background: A random QTL effects model uses a function of probabilities that two alleles in the same or in different animals at a particular genomic position are identical by descent (IBD). Estimates of such IBD probabilities and therefore, modeling and estimating QTL variances, depend on marker polymorphism, strength of linkage and linkage disequilibrium of markers and QTL, and the relatedness of animals in the pedigree. The effect of relatedness of animals in a pedigree on IBD probabilities and their characteristics was examined in a simulation study. Results: The study based on nine multi-generational family structures, similar to a pedigree structure of a real dairy population, distinguished by an increased level of inbreeding from zero to 28 % across the studied population. Highest inbreeding level in the pedigree, connected with highest relatedness, was accompanied by highest IBD probabilities of two alleles at the same locus, and by lower relative variation coefficients. Profiles of correlation coefficients of IBD probabilities along the marked chromosomal segment with those at the true QTL position were steepest when the inbreeding coefficient in the pedigree was highest. Precision of estimated QTL location increased with increasing inbreeding and pedigree relatedness. A method to assess the optimum level of inbreeding for QTL detection is proposed, depending on population parameters. Conclusions: An increased overall relationship in a QTL mapping design has positive effects on precision of QTL position estimates. But the relationship of inbreeding level and the capacity for QTL detection depending on the recombination rate of QTL and adjacent informative marker is not linear. © 2010 Freyer et al., licensee BioMed Central Ltd.

Quality of life in chronic fatigue syndrome

Whilst the debilitating fatigue experienced in patients suffering from Chronic Fatigue Syndrome (CFS) results in a subjective marked impairment in functioning, little research has investigated the impact of this disorder on quality of life. Forty-seven subjects with a confirmed diagnosis of CFS and 30 healthy controls were compared using the Sickness Impact Profile (SIP). A subgroup of subjects were interviewed regarding the impact CFS has had on their social and family relationships, work and recreational activities. Results from both the SIP and the interview revealed that CFS subjects had significantly impaired quality of life, especially in areas of social functioning. These findings highlight the importance of addressing the social isolation and loss of role functioning experienced by CFS sufferers.

Effects of family environment on negative symptoms and quality of life of psychotic patients

This study tested the hypothesis that negative symptoms and quality of life for patients with functional psychoses are associated with family environment. Fifty-seven first-admission patients with functional psychoses were assessed at hospital admission for severity of psychopathology and premorbid adjustment. Relatives residing with patients rated the family environment at admission and one month after discharge on the Family Environment Scale. Patients made the same ratings after discharge. Six months later, patients were reassessed on severity of psychopathology, negative symptoms, and quality of life. Multiple regression analyses showed that higher levels of positive emotional expressiveness in the family predicted milder and fewer negative symptoms and better quality of life at follow-up. The prediction was statistically independent of the initial severity of psychopathology or premorbid adjustment

Prediction of IBD based on population history for fine gene mapping

A novel multiple regression method (RM) is developed to predict identity-by-descent probabilities at a locus L (IBDL), among individuals without pedigree, given information on surrounding markers and population history. These IBDL probabilities are a function of the increase in linkage disequilibrium (LD) generated by drift in a homogeneous population over generations. Three parameters are sufficient to describe population history: effective population size (Ne), number of generations since foundation (T), and marker allele frequencies among founders (p). IBD L are used in a simulation study to map a quantitative trait locus (QTL) via variance component estimation. RM is compared to a coalescent method (CM) in terms of power and robustness of QTL detection. Differences between RM and CM are small but significant. For example, RM is more powerful than CM in dioecious populations, but not in monoecious populations. Moreover, RM is more robust than CM when marker phases are unknown or when there is complete LD among founders or Ne is wrong, and less robust when p is wrong. CM utilises all marker haplotype information, whereas RM utilises information contained in each individual marker and all possible marker pairs but not in higher order interactions. RM consists of a family of models encompassing four different population structures, and two ways of using marker information, which contrasts with the single model that must cater for all possible evolutionary scenarios in CM.