Women's perceptions of familial aspects of breast cancer

Women’s understanding of familial aspects of breast cancer was examined using both focus groups and interviews. The studies covered issues related to perceptions of breast cancer risk factors, perceived breast cancer risk, understanding of risk information, and family history of breast cancer as a risk factor. Study 1 consisted of four focus group discussions with women from the general community. Study 2 comprised ten face-to-face interviews with women who had a family history of breast cancer. The results in combination indicate a fairly high level of awareness of family history as a risk factor for breast cancer. However, the definition of a familial history of breast cancer differed between the groups, with those without a family history being more inclusive than those with such a history. The paper concludes with suggestions for use by those developing resources materials for those with a familial history of breast cancer.

Multi-type maltreatment : relationships between familial characteristics, maltreatment and adjustment of children and adults

This thesis examines the nature, extent and impact of multiple forms of maltreatment (multi-type maltreatment) from within a developmental victimological framework. The interrelationships between sexual abuse, physical abuse, psychological maltreatment, neglect, and witnessing family violence are assessed. The role of family variables in predicting maltreatment and the relative contribution of child maltreatment and family variables to adjustment are evaluated. Risk factors for multi-type maltreatment, and the relationship between multi-type maltreatment and adjustment are explored. The major theories of child development are reviewed. As well as exploring the relevance of developmental theories to understanding the impact of child maltreatment, factors influencing the emergence of child psychopathology are reviewed from a developmental psychopathology perspective. Ecological and developmental perspectives on how child maltreatment translates into the behavioural and emotional adjustment problems of children are integrated in the Child Maltreatment: Risk and Protection Model. After exploring some of the relevant conceptual issues, the literature on the prevalence and impact of each maltreatment type is reviewed, and the literature on multi-type maltreatment critiqued. Methodological and ethical concerns with the conduct of research in the field of child maltreatment using direct assessment of children led to the need for an instrument to assess parent perceptions of each of the types of abuse and neglect, as well as adult retrospective reports. Data are presented from two cross-sectional questionnaire-based studies using the Parent and Adult versions of the Family and Life Experiences Questionnaire which was designed to assess perceptions of children's experiences of sexual abuse, physical abuse, psychological maltreatment, neglect and witnessing family violence. Problems with the isolated focus of research on single forms of child maltreatment are addressed by the inclusion of each of these forms of child maltreatment within a single research design. Respondents for both studies were volunteers recruited from counselling agencies, medical, community health, child care and fitness centres and a first year psychology course. Parents (N=50) described their perceptions of primary school children's family characteristics, experiences of maltreatment and adjustment. Children's behavioural adjustment (internalising and externalising), sexual behaviours, emotions, self-esteem, gender identity, family adaptability and cohesion, parental traditionality, parental sexual punitiveness, interparental relationship satisfaction, and demographic characteristics are assessed in the study of Parents' perceptions. A large degree of overlap between the different types of abuse and neglect was found, with a high proportion of parents describing children's experiences of multiple forms of child maltreatment. Using both maltreatment and family characteristics to predict internalising behaviour problems, neglect and family cohesion were the only unique predictors. Family adaptability and cohesion were the only unique predictors of externalising behaviour problems. Physical and sexual abuse were not predicted from family characteristics; neglect was predicted, but no variables provided unique prediction. Unique predictors of psychological maltreatment were family cohesion, parental sexual punitiveness and divorce. Divorce was the only variable with significant unique prediction of the child witnessing family violence. Family background and family functioning were found to predict some forms of maltreatment, but to also be important factors mediating the adjustment of children, independent of maltreatment. The results are interpreted within an ecological framework, integrating risk factors for maltreatment with experiences of abuse and neglect and subsequent adjustment in childhood. Retrospective reports of adults' (N=175) own childhood family characteristics, experiences of maltreatment, and reports of their current adjustment are also studied. Included with the adult version of the FLEQ were the Trauma Symptom Checklist-40, Rosenberg's Self-esteem Scale, and the Family and Adaptability and Cohesion Evaluation Scale-II. Similar results were found in the in the Adult Study. As hypothesised, adult retrospective reports of the five different types of child maltreatment were found to be highly intercorrelated. Family characteristics predicted maltreatment and adjustment scores and discriminated between single and multi-type maltreatment. Maltreatment scores also predicted adult adjustment. As the number of maltreatment types increased, there was an increase in the number of adjustment problems reported. Alternate hypotheses regarding the possible operation of mediating and moderating processes in the relationships between family characteristics, maltreatment and the adjustment of adults were assessed. Finally, the results of these investigations are discussed and interpreted in the light of extant findings previously reviewed. Data from the two major empirical studies are used to demonstrate the overlap between different child maltreatment categories, and the extent and impact of multi-type maltreatment. The results show that children are vulnerable to more than one type of maltreatment. Individuals who experience a number of different forms of maltreatment had greater adjustment problems than those experiencing only one or two different types of abuse or neglect. Dysfunctional families place children at risk of child maltreatment. Negative family characteristics lead to adjustment problems in children and adults. The type of maltreatment having the most damaging effect on children was neglect, and in the long-term, sexual abuse. A multi-dimensional approach to prevention and intervention needs to be adopted, based on the co-morbidity of maltreatment types, and the likelihood of children experiencing further abuse or neglect of a different type. Dysfunctional family dynamics which place children at risk of multi-type maltreatment, and mediate the effects of maltreatment on adjustment, need to be specifically targeted with support and family intervention strategies. Risk-assessment measures used by Child Protection workers must include adequate knowledge of the inter-relationships between maltreatment types, and the particularly negative impact on adjustment of experiencing many forms of abuse or neglect. Suggestions for future clinical and research work in the area of child maltreatment are developed. The importance of assessing all forms of maltreatment when examining the relationships of maltreatment to adjustment is emphasised. It is recommended that prevention and intervention strategies acknowledge the interrelationships between maltreatment types.

Antihypertensive treatments obscure familial contributions to blood pressure variation

The linkage and association between inherent blood pressure and underlying genotype is potentially confounded by antihypertensive treatment. We estimated blood pressure variance components (genetic, shared environmental, individual-specific) in 767 adult volunteer families by using a variety of approaches to adjusting blood pressure of the 244 subjects (8.2%) receiving antihypertensive medications. The additive genetic component of variance for systolic pressure was 73.9 mm Hg(2) (SE, 8.8) when measured pressures (adjusted for age by gender within each generation) were used but fell to 61.4 mm Hg(2) (SE, 8.0) when treated subjects were excluded. When the relevant 95th percentile values were substituted for treated systolic pressures, the additive genetic component was 81.9 mm Hg(2) (SE, 9.5), but individual adjustments in systolic pressure ranged from -53.5 mm Hg to +64.5 mm Hg (mean, +17.2 mm Hg). Instead, when 10 mm Hg was added to treated systolic pressure, the additive genetic component rose to 86.6 mm Hg(2) (SE, 10.1). Similar changes were seen in the shared environment component of variance for systolic pressure and for the combined genetic and shared environmental (ie, familial) components of diastolic pressure. There was little change in the individual-specific variance component across any of the methods. Therefore, treated subjects contribute important information to the familial components of blood pressure variance. This information is lost if treated subjects are excluded and obscured by treatment effects if unadjusted measured pressures are used. Adding back an appropriate increment of pressure restores familial components, more closely reflects the pretreatment values, and should increase the power of genomic linkage and linkage disequilibrium analyses.

Familial and genomic analyses of postural changes in systolic and diastolic blood pressure

The physiological adaptation to the erect posture involves integrated neural and cardiovascular responses that might be determined by genetic factors. We examined the familial- and individual-specific components of variance for postural changes in systolic and diastolic blood pressure in 767 volunteer nuclear adult families from the Victorian Family Heart Study. In 274 adult sibling pairs, we made a genome-wide scan using 400 markers for quantitative trait loci linked with the postural changes in systolic and diastolic pressures. Overall, systolic pressure did not change on standing, but there was considerable variation in this phenotype (SD=8.1 mm Hg). Familial analyses revealed that 25% of the variance of change in systolic pressure was attributable to genetic factors. In contrast, diastolic pressure increased by 6.3 mm Hg (SD=7.0 mm Hg) on standing and there was no evidence of contributory genetic factors. Multipoint quantitative genome linkage mapping suggested evidence (Z=3.2) of linkage of the postural change in systolic pressure to chromosome 12 but found no genome-wide evidence of linkage for the change in diastolic pressure. These findings suggest that genetic factors determine whether systolic pressure decreases or increases when one stands, possibly as the result of unidentified alleles on chromosome 12. The genetics of postural changes in systolic blood pressure might reflect the general buffering function of the baroreflex; thereby, the predisposition to sudden decreases or increases in systolic pressure might cause postural hypotension or vessel wall disruption, respectively.

Problem gambling, familial violence and alcohol misuse: exploring the triad for treatment-seekers

Research into the co-occurrence of problem gambling, familial violence, and alcohol misuse is limited. While these issues have been considered in combination (i.e.violence and alcohol misuse, problem gambling and alcohol misuse, problem gambling and violence), within Australia, in particular, there has been an absence of exploration of this triad. The current research attempts to fill the gap in the literature, to establish whether there is any difference between problem gamblers with co-occurring violence and problem gamblers who had not experienced violence in terms of their alcohol misuse and gambling behaviours. Interviews were conducted with 81 treatment- seeking problem gamblers to explore how a history of victimization only, perpetration only, victimization and perpetration, or no history of family violence impacted on gambling behaviours (including baseline Victorian Gambling Screen), as well as alcohol misuse. Results indicated that in this treatment-seeking sample there were no significant differences for gambling behaviours or alcohol misuse between problem gamblers with issues of violence and those without. Males demonstrated (on average) a greater tendency toward hazardous drinking or disordered alcohol use. It would be prudent for treatment services to routinely examine problem gamblers’ history of violence and alcohol misuse until research verifies the nature of this triad

The molecular basis of copper homeostasis and copper-related disorders

Copper is an essential trace element that can be extremely toxic in excess due to the pro-oxidant activity of copper ions. Inherited disorders of copper transport, Menkes disease (copper deficiency), and Wilson disease (copper toxicosis) are caused by mutations of two closely related Cu transporting-ATPases, and demonstrate the essentiality and potential toxicity of copper. Other copper toxicosis conditions in humans and animals have been described, but are not well understood at a molecular level. Copper homeostatic mechanisms are being discovered. One such mechanism is copper-induced trafficking of the Cu-ATPases, which allows cells to provide copper to secreted cupro-proteins but also to efflux excess copper. Oxidative damage induced by copper may be involved in the pathogenesis of neurodegenerative conditions such as Alzheimer's disease, familial amyotrophic lateral sclerosis, and prion diseases.

Outside belonging : multi-sexual relationships as border existence

This article draws from an ongoing Australian research project with over 60 culturally and sexually diverse women in monogamous, open, and polyamorous relationships with bisexual-identifying and/or bisexualbehaving men. Positioned within a queer feminist deconstructive theoretical framework, this research provides insights into the border existences of these women and their partners, and their negotiations of “new rules” and boundaries in order to construct healthy relationships. What are the various ways that HIV/AIDS impacts women in relationships with bisexual men? How do they deal with issues such as social, community, workplace and familial ostracism? Probyn's term, “outside belonging” (1996: 9) is applicable to the border existences of thesewomen and their bisexual male partners. Their multi-sexual relationships are both “outside” gendernormative and heteronormative constructs of marital and defacto relationships and yet “belonging,” for the partnersmay “pass” as a “normal” couple. They are also “outside” the dominant constructs of Australian gay identity and community while simultaneously “belonging” due to their partners', and sometimes their own, same-sex attractions and relationships.

Creatine supplementation and riluzole treatment provide similar beneficial effects in copper, zinc superoxide dismutase (G93A) transgenic mice

This study investigated the effects of riluzole (Ril), creatine (Cr) and a combination of these treatments on the onset and progression of clinical signs and neuropathology in an animal model of familial amyotrophic lateral sclerosis, the G93A transgenic mouse (n=13–17 per group). The onset of clinical signs was delayed (P<0.05) by about 12 days in all treatment groups compared with control; however, no differences occurred between treatments. All animals were killed at 199 days of age. At the end of the experimental period the severity of clinical signs was less (P<0.05) with all treatments compared with control. Again no differences between treatments were observed. The treatments had no effect on the number of neurons in ventral horns of the lumbar region of the spinal cord. Transgenic mice ingesting Cr displayed elevated (P<0.05) total Cr levels in cerebral hemispheres (5%) and spinal cord (8%), but not skeletal muscles. These data demonstrate that treatment with Ril and Cr were both effective in delaying disease onset and clinical disability. To the age of killing, no additional benefit was conferred by co-administration of Ril and Cr.

Risk and resilience, knowledge and imagination: the enlightenment of David Almond's Skellig

In what Ulrich Beck calls "risk society," and Anthony Giddens a "runaway world," a climate of fear and insecurity has been created by scientific progress, leading to a loss of confidence in the ability of experts to manage risk. Resilience is at the forefront of psychology research informing child-rearing strategies (Luthar, et al.); it entails an approach to child welfare that focuses on fostering internal (psychological) and external (cultural) assets that develop a child's ability to triumph over adversity in the form of individual, familial, and cultural stresses.

After hMSH2 and hMLH1- what next? Analysis of three-generational, population-based, early-onset colorectal cancer families

The aim of our study was to examine the role of genetic factors on early-onset colorectal cancer after excluding the impact of germline mutations in the two major mismatch repair genes. A total of 131 incident probands, under 45 years at diagnosis of a first primary colorectal cancer selected from the Victorian Cancer Registry, and their first-and second-degree relatives, were interviewed. Germline DNA from all 12 probands with a family history meeting the modified Amsterdam Criteria for Hereditary Non-Polyposis Colorectal Cancer (HNPCC) and a random sample of 31 of the remaining probands was screened for mutations in hMSH2 and hMLH1 via manual sequencing. Germline mutations were identified in 6 of the 131 probands (5%), all from the "HNPCC" families. Of the remaining 125 probands, 51 (41%) reported at least one first-or second-degree relative with colorectal cancer with an excess of colorectal cancer in first-degree relatives (SMR = 2.7, 95% CI = 1.7-4.1, p < 0.001). The lifetime risk to age 70 for first-degree relatives was 8.0% (5.0-12.8%), compared to the Victorian population risk of 3.2% (p = 0.01). The best fitting major gene model was a recessively-inherited risk of 98% to age 70 (95% CI = 24-100%) carried by 0.17% of the population and would explain 15% of all colorectal cancer in cases with a diagnosis before age 45. Early-onset colorectal cancer is strongly familial even after excluding families found to be segregating a mutation in either of the 2 major mismatch repair genes. There is evidence for a role of yet to be identified genes associated with a high recessively-inherited risk of colorectal cancer.

Freshwater finfish biodiversity and conservation: an Asian perspective

Aspects on biodiversity and conservation of the ichthyofauna in the Asian region, in comparison to that of Africa, Europe and North America have been relatively less documented. This paper attempts to evaluate the above aspects in the East, and South and Southeast Asia based on available information in the literature. The familial diversity in inland waters in Asia (121 families) is considerably higher than in African and Latin American. Also, the finfish faunal diversity of 21 major river basins in East, and South and Southeast Asian indicate that species diversity is not necessarily related to familial diversity. The fish fauna in the region considered presently is highly diverse with an estimated cumulative total of 7447 species. Amongst the freshwater fishes the dominant groups are cyprinids (Cyprinidae, about 1000 species), loaches (about 400 species) of the families Balitoridae and Cobitiidae, gobids (Gobiidae, 300 species), catfishes (Bagridae, about 100 species), and the Osphronemidae (85 species). In the region, 462 freshwater finfish species are reckoned to be threatened, accounting for 17.5% of the all finfish species in this status in the world. In the region there are 66 species that are critically endangered and/or endangered, of which 32 are cyprinids, 14 of which are endemic to Lake Lanao, Mindano Island, Philippines. The diversity of freshwater fish species in the region was significantly related to the land area of the different countries in the following manner:

ln (species ratio) = ln 0.384 (land area in km2) + 0.651( R² = 0.628; p < 0.001).

In addition, the fish species diversity in the major river basins of the region was also found to be positively related to the basin area:

ln (Species richness index) = - 0.789 ln (Area) + 9.368( R² = 0.748; p < 0.001).

Based on above relationship, the predicted fish species richness did not necessarily correlate to river basin size, and rivers with small basins were shown to have high indices. The paper also attempts to evaluate the reasons affecting fish species diversity in the region and suggests mitigating measures.

GAD2 on chromosome 10p12 is a candidate gene for human obesity

The gene GAD2 encoding the glutamic acid decarboxylase enzyme (GAD65) is a positional candidate gene for obesity on Chromosome 10p11–12, a susceptibility locus for morbid obesity in four independent ethnic populations. GAD65 catalyzes the formation of γ-aminobutyric acid (GABA), which interacts with neuropeptide Y in the paraventricular nucleus to contribute to stimulate food intake. A case-control study (575 morbidly obese and 646 control subjects) analyzing GAD2 variants identified both a protective haplotype, including the most frequent alleles of single nucleotide polymorphisms (SNPs) +61450 C>A and +83897 T>A (OR = 0.81, 95% CI [0.681–0.972], p = 0.0049) and an at-risk SNP (−243 A>G) for morbid obesity (OR = 1.3, 95% CI [1.053–1.585], p = 0.014). Furthermore, familial-based analyses confirmed the association with the obesity of SNP +61450 C>A and +83897 T>A haplotype (χ2 = 7.637, p = 0.02). In the murine insulinoma cell line βTC3, the G at-risk allele of SNP −243 A>G increased six times GAD2 promoter activity (p < 0.0001) and induced a 6-fold higher affinity for nuclear extracts. The −243 A>G SNP was associated with higher hunger scores (p = 0.007) and disinhibition scores (p = 0.028), as assessed by the Stunkard Three-Factor Eating Questionnaire. As GAD2 is highly expressed in pancreatic β cells, we analyzed GAD65 antibody level as a marker of β-cell activity and of insulin secretion. In the control group, −243 A>G, +61450 C>A, and +83897 T>A SNPs were associated with lower GAD65 autoantibody levels (p values of 0.003, 0.047, and 0.006, respectively). SNP +83897 T>A was associated with lower fasting insulin and insulin secretion, as assessed by the HOMA-B% homeostasis model of β-cell function (p = 0.009 and 0.01, respectively). These data support the hypothesis of the orexigenic effect of GABA in humans and of a contribution of genes involved in GABA metabolism in the modulation of food intake and in the development of morbid obesity.

Hepatitis B Virus transmission and hepatocarcinogenesis: a 9 year retropective cohort of 13676 relatives with hepatocellular carcinoma

Background/Aims
Familial clustering of hepatitis B virus (HBV) infection is related to perinatal transmission, and is the main cause of familial-type hepatocellular carcinoma (HCC). The route of HBV transmission differs between the children and siblings of patients with HCC. This study examined the differences in HBV carrier rates and HCC-related mortality between two generations in HCC families.
Methods
From 1992 to 1997, relatives of individuals with HCC were screened prospectively with ultrasonography, alpha-fetoprotein, liver biochemistry tests and viral markers. Total HCC-related deaths during a 9-year period were compared between the generations of index patients and their children.
Results
The study included a total of 13 676 relatives in two generations. More HCC-related deaths occurred in the index patient generation than in the child generation. Furthermore, children of female index patients had higher rates of liver cancer related mortality than children of male index patients. The same was true when the analysis was limited to male HBV carriers. The prevalence of HBsAg in the offspring of HBsAg positive mothers was 66% in the child generation and 72% in the index patient generation. These high prevalences indicated high maternal HBV replication status.
Conclusions
Perinatal transmission and maternal viral load are important risk factors in hepatocarcinogenesis.