Genetic resources in wild and cultured stocks of the Asian mud crab, Scylla paramamosain

The mud crab (Scylla spp.) aquaculture industry has expanded rapidly in recent years in many countries in the Indo - West Pacific (IWP) region as an alternative to marine shrimp culture because of significant disease outbreaks and associated failures of many shrimp culture industries in the region. Currently, practices used to produce and manage breeding crabs in hatcheries may compromise levels of genetic diversity, ultimately compromising growth rates, disease resistance and stock productivity. Therefore, to avoid “genetic pollution” and its harmful effects and to promote further development of mud crab aquaculture and fisheries in a sustainable way, a greater understanding of the genetic attributes of wild and cultured mud crab stocks is required. Application of these results can provide benefits for managing wild and cultured Asian mud crab populations for multiple purposes including for commercial production, recreation and conservation and to increase profitability and sustainability of newly emerging crab culture industries. Phylogeographic patterns and the genetic structure of Asian mud crab populations across the IWP were assessed to determine if they were concordant with those of other widespread taxa possessing pelagic larvae of relatively long duration. A 597 bp fragment of the mitochondrial DNA COI gene was amplified and screened for variation in a total of 297 individuals of S. paramamosain from six sampling sites across the species’ natural geographical distribution in the IWP and 36 unique haplotypes were identified. Haplotype diversities per site ranged from 0.516 to 0.879. Nucleotide diversity estimates among haplotypes were 0.11% – 0.48%. Maximum divergence observed among S. paramamosain samples was 1.533% and samples formed essentially a single monophyletic group as no obvious clades were related to geographical location of sites. A weak positive relationship was observed however, between genetic distance and geographical distance among sites. Microsatellite markers were then used to assess contemporary gene flow and population structure in Asian mud crab populations sampled across their natural distribution in the IWP. Eight microsatellite loci were screened in sampled S. paramamosain populations and all showed high allelic diversity at all loci in sampled populations. In total, 344 individuals were analysed, and 304 microsatellite alleles were found across the 8 loci. The mean number of alleles per locus at each site ranged from 20.75 to 28.25. Mean allelic richness per site varied from 17.2 to 18.9. All sites showed high levels of heterozygosity as average expected heterozygosities for all loci ranged from 0.917 – 0.953 while mean observed heterozygosity ranged from 0.916 – 0.959. Allele diversities were similar at all sites and across all loci. The results did not show any evidence for major differences in allele frequencies among sites and patterns of allele frequencies were very similar in all populations across all loci. Estimates of population differentiation (FST) were relatively low and most probably largely reflect intra – individual variation for very highly variable loci. Results from nDNA analysis showed evidence for only very limited population genetic structure among sampled S. paramamosain, and a positive and significant association for genetic and geographical distance among sample sites. Microsatellite markers were then employed to determine if adequate levels of genetic diversity has been captured in crab hatcheries for the breeding cycle. The results showed that all microsatellite loci were polymorphic in hatchery samples. Culture populations were in general, highly genetically depauperate, compared with comparable wild populations, with only 3 to 8 alleles recorded for the same loci set per population. In contrast, very high numbers of alleles per locus were found in reference wild S. paramamosain populations, which ranged from 18 to 46 alleles per locus per population. In general, this translates into a 3 to 10 fold decline in mean allelic richness per locus in all culture stocks compared with wild reference counterparts. Furthermore, most loci in all cultured S. paramamosain samples showed departures from HWE equilibrium. Allele frequencies were very different in culture samples from that present in comparable wild reference samples and this in particular, was reflected in a large decline in allele diversity per locus. The pattern observed was best explained by significant impacts of breeding practices employed in hatcheries rather than natural differentiation among wild populations used as the source of brood stock. Recognition of current problems and management strategies for the species both for the medium and long-term development of the new culture industry are discussed. The priority research to be undertaken over the medium term for S. paramamosain should be to close the life cycle fully to allow individuals to be bred on demand and their offspring equalised to control broodstock reproductive contributions. Establishing a broodstock register and pedigree mating system will be required before any selection program is implemented. This will ensure that sufficient genetic variation will be available to allow genetic gains to be sustainably achieved in a future stock improvement program. A fundamental starting point to improve hatchery practices will be to encourage farmers and hatchery managers to spawn more females in their hatcheries as it will increase background genetic diversity in culture stocks. Combining crablet cohorts from multiple hatcheries into a single cohort for supply to farmers or rotation of breeding females regularly in hatcheries will help to address immediate genetic diversity problems in culture stocks. Application of these results can provide benefits for managing wild and cultured Asian mud crab populations more efficiently. Over the long-term, application of data on genetic diversity in wild and cultured stocks of Asian mud crab will contribute to development of sustainable and productive culture industries in Vietnam and other countries in the IWP and can contribute towards conservation of wild genetic resources.

Comparison of koala LPCoLN and human strains of Chlamydia pneumoniae highlights extended genetic diversity in the species

Background Chlamydia pneumoniae is a widespread pathogen causing upper and lower respiratory tract infections in addition to a range of other diseases in humans and animals. Previous whole genome analyses have focused on four essentially clonal (> 99% identity) C. pneumoniae human genomes (AR39, CWL029, J138 and TW183), providing relatively little insight into strain diversity and evolution of this species. Results We performed individual gene-by-gene comparisons of the recently sequenced C. pneumoniae koala genome and four C. pneumoniae human genomes to identify species-specific genes, and more importantly, to gain an insight into the genetic diversity and evolution of the species. We selected genes dispersed throughout the chromosome, representing genes that were specific to C. pneumoniae, genes with a demonstrated role in chlamydial biology and/or pathogenicity (n = 49), genes encoding nucleotide salvage or amino acid biosynthesis proteins (n = 6), and extrachromosomal elements (9 plasmid and 2 bacteriophage genes). Conclusions We have identified strain-specific differences and targets for detection of C. pneumoniae isolates from both human and animal origin. Such characterisation is necessary for an improved understanding of disease transmission and intervention.

Domestication to crop improvement: Genetic resources for sorghum and saccharum (Andropogoneae)

Background Both sorghum (Sorghum bicolor) and sugarcane (Saccharum officinarum) are members of the Andropogoneae tribe in the Poaceae and are each other's closest relatives amongst cultivated plants. Both are relatively recent domesticates and comparatively little of the genetic potential of these taxa and their wild relatives has been captured by breeding programmes to date. This review assesses the genetic gains made by plant breeders since domestication and the progress in the characterization of genetic resources and their utilization in crop improvement for these two related species. Genetic Resources The genome of sorghum has recently been sequenced providing a great boost to our knowledge of the evolution of grass genomes and the wealth of diversity within S. bicolor taxa. Molecular analysis of the Sorghum genus has identified close relatives of S. bicolor with novel traits, endosperm structure and composition that may be used to expand the cultivated gene pool. Mutant populations (including TILLING populations) provide a useful addition to genetic resources for this species. Sugarcane is a complex polyploid with a large and variable number of copies of each gene. The wild relatives of sugarcane represent a reservoir of genetic diversity for use in sugarcane improvement. Techniques for quantitative molecular analysis of gene or allele copy number in this genetically complex crop have been developed. SNP discovery and mapping in sugarcane has been advanced by the development of high-throughput techniques for ecoTILLING in sugarcane. Genetic linkage maps of the sugarcane genome are being improved for use in breeding selection. The improvement of both sorghum and sugarcane will be accelerated by the incorporation of more diverse germplasm into the domesticated gene pools using molecular tools and the improved knowledge of these genomes.

Towards testing the eclectic paradigm on multinational contracting: an approach to reviewing and analysing secondary data

In response to the need to leverage private finance and the lack of competition in some parts of the Australian public sector major infrastructure market, especially in very large economic infrastructure procured using Pubic Private Partnerships, the Australian Federal government has demonstrated its desire to attract new sources of in-bound foreign direct investment (FDI) into the Australian construction market. This paper aims to report on progress towards an investigation into the determinants of multinational contractors’ willingness to bid for Australian public sector major infrastructure projects and which is designed to give an improved understanding of matters surrounding FDI into the Australian construction sector. This research deploys Dunning’s eclectic theory for the first time in terms of in-bound FDI by multinational contractors and as head contractors bidding for Australian major infrastructure public sector projects. Elsewhere, the authors have developed Dunning’s principal hypothesis associated with his eclectic framework in order to suit the context of this research and to address a weakness arising in Dunning’s principal hypothesis that is based on a nominal approach to the factors in the eclectic framework and which fail to speak to the relative explanatory power of these factors. In this paper, an approach to reviewing and analysing secondary data, as part of the first stage investigation in this research, is developed and some illustrations given, vis-à-vis the selected sector (roads, bridges and tunnels) in Australia (as the host location) and using one of the selected home countries (Spain). In conclusion, some tentative thoughts are offered in anticipation of the completion of the first stage investigation - in terms of the extent to which this first stage based on secondary data only might suggest the relative importance of the factors in the eclectic framework. It is noted that more robust conclusions are expected following the future planned stages of the research and these stages including primary data are briefly outlined. Finally, and beyond theoretical contributions expected from the overall approach taken to developing and testing Dunning’s framework, other expected contributions concerning research method and practical implications are mentioned.

The relationship between parents’ self-efficacy beliefs, outcome expectations, child behaviour, and management of atopic dermatitis

Atopic dermatitis (AD) is a chronic inflammatory skin condition, characterized by intense pruritis, with a complex aetiology comprising multiple genetic and environmental factors. It is a common chronic health problem among children, and along with other allergic conditions, is increasing in prevalence within Australia and in many countries worldwide. Successful management of childhood AD poses a significant and ongoing challenge to parents of affected children. Episodic and unpredictable, AD can have profound effects on children’s physical and psychosocial wellbeing and quality of life, and that of their caregivers and families. Where concurrent child behavioural problems and parenting difficulties exist, parents may have particular difficulty achieving adequate and consistent performance of the routine management tasks that promote the child’s health and wellbeing. Despite frequent reports of behaviour problems in children with AD, past research has neglected the importance of child behaviour to parenting confidence and competence with treatment. Parents of children with AD are also at risk of experiencing depression, anxiety, parenting stress, and parenting difficulties. Although these factors have been associated with difficulty in managing other childhood chronic health conditions, the nature of these relationships in the context of child AD management has not been reported. This study therefore examined relationships between child, parent, and family variables, and parents’ management of child AD and difficult child behaviour, using social cognitive and self-efficacy theory as a guiding framework. The study was conducted in three phases. It employed a quantitative, cross-sectional study design, accessing a community sample of 120 parents of children with AD, and a sample of 64 child-parent dyads recruited from a metropolitan paediatric tertiary referral centre. In Phase One, instruments designed to measure parents’ self-reported performance of AD management tasks (Parents’ Eczema Management Scale – PEMS) and parents’ outcome expectations of task performance (Parents’ Outcome Expectations of Eczema Management Scale – POEEMS) were adapted from the Parental Self-Efficacy with Eczema Care Index (PASECI). In Phase Two, these instruments were used to examine relationships between child, parent, and family variables, and parents’ self-efficacy, outcome expectations, and self-reported performance of AD management tasks. Relationships between child, parent, and family variables, parents’ self-efficacy for managing problem behaviours, and reported parenting practices, were also examined. This latter focus was explored further in Phase Three, in which relationships between observed child and parent behaviour, and parent-reported self-efficacy for managing both child AD and problem behaviours, were explored. Phase One demonstrated the reliability of both PEMS and POEEMS, and confirmed that PASECI was reliable and valid with modification as detailed. Factor analyses revealed two-factor structures for PEMS and PASECI alike, with both scales containing factors related to performing routine management tasks, and managing the child’s symptoms and behaviour. Factor analysis was also applied to POEEMS resulting in a three-factor structure. Factors relating to independent management of AD by the parent, involving healthcare professionals in management, and involving the child in management of AD were found. Parents’ self-efficacy and outcome expectations had a significant influence on self-reported task performance. In Phase Two, relationships emerged between parents’ self-efficacy and self-reported performance of AD management tasks, and AD severity, child behaviour difficulties, parent depression and stress, conflict over parenting issues, and parents’ relationship satisfaction. Using multiple linear regressions, significant proportions of variation in parents’ self-efficacy and self-reported performance of AD management tasks were explained by child behaviour difficulties and parents’ formal education, and self-efficacy emerged as a likely mediator for the relationships between both child behaviour and parents’ education, and performance of AD management tasks. Relationships were also found between parents’ self-efficacy for managing difficult child behaviour and use of dysfunctional parenting strategies, and child behaviour difficulties, parents’ depression and stress, conflict over parenting issues, and relationship satisfaction. While significant proportions of variation in self-efficacy for managing child behaviour were explained by both child behaviour and family income, family income was the only variable to explain a significant proportion of variation in parent-reported use of dysfunctional parenting strategies. Greater use of dysfunctional parenting strategies (both lax and authoritarian parenting) was associated with more severe AD. Parents reporting lower self-efficacy for managing AD also reported lower self-efficacy for managing difficult child behaviour; likewise, less successful self-reported performance of AD management tasks was associated with greater use of dysfunctional parenting strategies. When child and parent behaviour was directly observed in Phase Three, more aversive child behaviour was associated with lower self-efficacy, less positive outcome expectations, and poorer self-reported performance of AD management tasks by parents. Importantly, there were strong positive relationships between these variables (self-efficacy, outcome expectations, and self-reported task performance) and parents’ observed competence when providing treatment to their child. Less competent performance was also associated with greater parent-reported child behaviour difficulties, parent depression and stress, parenting conflict, and relationship dissatisfaction. Overall, this study revealed the importance of child behaviour to parents’ confidence and practices in the contexts of child AD and child behaviour management. Parents of children with concurrent AD and behavioural problems are at particular risk of having low self-efficacy for managing their child’s AD and difficult behaviour. Children with more severe AD are also at higher risk of behaviour problems, and thus represent a high-risk group of children whose parents may struggle to manage the disease successfully. As one of the first studies to examine the role and correlates of parents’ self-efficacy in child AD management, this study identified a number of potentially modifiable factors that can be targeted to enhance parents’ self-efficacy, and improve parent management of child AD. In particular, interventions should focus on child behaviour and parenting issues to support parents caring for children with AD and improve child health outcomes. In future, findings from this research will assist healthcare teams to identify parents most in need of support and intervention, and inform the development and testing of targeted multidisciplinary strategies to support parents caring for children with AD.

Studies on the pathophysiology and genetic basis of migraine

Migraine is a neurological disorder that affects the central nervous system causing painful attacks of headache. A genetic vulnerability and exposure to environmental triggers can influence the migraine phenotype. Migraine interferes in many facets of people’s daily life including employment commitments and their ability to look after their families resulting in a reduced quality of life. Identification of the biological processes that underlie this relatively common affliction has been difficult because migraine does not have any clearly identifiable pathology or structural lesion detectable by current medical technology. Theories to explain the symptoms of migraine have focused on the physiological mechanisms involved in the various phases of headache and include the vascular and neurogenic theories. In relation to migraine pathophysiology the trigeminovascular system and cortical spreading depression have also been implicated with supporting evidence from imaging studies and animal models. The objective of current research is to better understand the pathways and mechanisms involved in causing pain and headache to be able to target interventions. The genetic component of migraine has been teased apart using linkage studies and both candidate gene and genome-wide association studies, in family and case-control cohorts. Genomic regions that increase individual risk to migraine have been identified in neurological, vascular and hormonal pathways. This review discusses knowledge of the pathophysiology and genetic basis of migraine with the latest scientific evidence from genetic studies.

A novel serogenetic approach determines the community prevalence of celiac disease and informs improved diagnostic pathways

Background: Changing perspectives on the natural history of celiac disease (CD), new serology and genetic tests, and amended histological criteria for diagnosis cast doubt on past prevalence estimates for CD. We set out to establish a more accurate prevalence estimate for CD using a novel serogenetic approach.Methods: The human leukocyte antigen (HLA)-DQ genotype was determined in 356 patients with 'biopsy-confirmed' CD, and in two age-stratified, randomly selected community cohorts of 1,390 women and 1,158 men. Sera were screened for CD-specific serology.Results: Only five 'biopsy-confirmed' patients with CD did not possess the susceptibility alleles HLA-DQ2.5, DQ8, or DQ2.2, and four of these were misdiagnoses. HLA-DQ2.5, DQ8, or DQ2.2 was present in 56% of all women and men in the community cohorts. Transglutaminase (TG)-2 IgA and composite TG2/deamidated gliadin peptide (DGP) IgA/IgG were abnormal in 4.6% and 5.6%, respectively, of the community women and 6.9% and 6.9%, respectively, of the community men, but in the screen-positive group, only 71% and 75%, respectively, of women and 65% and 63%, respectively, of men possessed HLA-DQ2.5, DQ8, or DQ2.2. Medical review was possible for 41% of seropositive women and 50% of seropositive men, and led to biopsy-confirmed CD in 10 women (0.7%) and 6 men (0.5%), but based on relative risk for HLA-DQ2.5, DQ8, or DQ2.2 in all TG2 IgA or TG2/DGP IgA/IgG screen-positive subjects, CD affected 1.3% or 1.9%, respectively, of females and 1.3% or 1.2%, respectively, of men. Serogenetic data from these community cohorts indicated that testing screen positives for HLA-DQ, or carrying out HLA-DQ and further serology, could have reduced unnecessary gastroscopies due to false-positive serology by at least 40% and by over 70%, respectively.Conclusions: Screening with TG2 IgA serology and requiring biopsy confirmation caused the community prevalence of CD to be substantially underestimated. Testing for HLA-DQ genes and confirmatory serology could reduce the numbers of unnecessary gastroscopies. © 2013 Anderson et al.; licensee BioMed Central Ltd.

Frequency response function based damage identification using principal component analysis and pattern recognition technique

Pattern recognition is a promising approach for the identification of structural damage using measured dynamic data. Much of the research on pattern recognition has employed artificial neural networks (ANNs) and genetic algorithms as systematic ways of matching pattern features. The selection of a damage-sensitive and noise-insensitive pattern feature is important for all structural damage identification methods. Accordingly, a neural networks-based damage detection method using frequency response function (FRF) data is presented in this paper. This method can effectively consider uncertainties of measured data from which training patterns are generated. The proposed method reduces the dimension of the initial FRF data and transforms it into new damage indices and employs an ANN method for the actual damage localization and quantification using recognized damage patterns from the algorithm. In civil engineering applications, the measurement of dynamic response under field conditions always contains noise components from environmental factors. In order to evaluate the performance of the proposed strategy with noise polluted data, noise contaminated measurements are also introduced to the proposed algorithm. ANNs with optimal architecture give minimum training and testing errors and provide precise damage detection results. In order to maximize damage detection results, the optimal architecture of ANN is identified by defining the number of hidden layers and the number of neurons per hidden layer by a trial and error method. In real testing, the number of measurement points and the measurement locations to obtain the structure response are critical for damage detection. Therefore, optimal sensor placement to improve damage identification is also investigated herein. A finite element model of a two storey framed structure is used to train the neural network. It shows accurate performance and gives low error with simulated and noise-contaminated data for single and multiple damage cases. As a result, the proposed method can be used for structural health monitoring and damage detection, particularly for cases where the measurement data is very large. Furthermore, it is suggested that an optimal ANN architecture can detect damage occurrence with good accuracy and can provide damage quantification with reasonable accuracy under varying levels of damage.

Genome-wide association study of CNVs in 16,000 cases of eight common diseases and 3,000 shared controls

Copy number variants (CNVs) account for a major proportion of human genetic polymorphism and have been predicted to have an important role in genetic susceptibility to common disease. To address this we undertook a large, direct genome-wide study of association between CNVs and eight common human diseases. Using a purpose-designed array we typed 19,000 individuals into distinct copy-number classes at 3,432 polymorphic CNVs, including an estimated 50% of all common CNVs larger than 500 base pairs. We identified several biological artefacts that lead to false-positive associations, including systematic CNV differences between DNAs derived from blood and cell lines. Association testing and follow-up replication analyses confirmed three loci where CNVs were associated with diseaseIRGM for Crohns disease, HLA for Crohns disease, rheumatoid arthritis and type 1 diabetes, and TSPAN8 for type 2 diabetesalthough in each case the locus had previously been identified in single nucleotide polymorphism (SNP)-based studies, reflecting our observation that most common CNVs that are well-typed on our array are well tagged by SNPs and so have been indirectly explored through SNP studies. We conclude that common CNVs that can be typed on existing platforms are unlikely to contribute greatly to the genetic basis of common human diseases. © 2010 Macmillan Publishers Limited. All rights reserved.

Nature and extent of genetic diversity of dengue viruses determined by 454 pyrosequencing

Dengue virus (DENV) populations are characteristically highly diverse. Regular lineage extinction and replacement is an important dynamic DENV feature, and most DENV lineage turnover events are associated with increased incidence of disease. The role of genetic diversity in DENV lineage extinctions is not understood. We investigated the nature and extent of genetic diversity in the envelope (E) gene of DENV serotype 1 representing different lineages histories. A region of the DENV genome spanning the E gene was amplified and sequenced by Roche/454 pyrosequencing. The pyrosequencing results identified distinct sub-populations (haplotypes) for each DENV-1 E gene. A phylogenetic tree was constructed with the consensus DENV-1 E gene nucleotide sequences, and the sequences of each constructed haplotype showed that the haplotypes segregated with the Sanger consensus sequence of the population from which they were drawn. Haplotypes determined through pyrosequencing identified a recombinant DENV genome that could not be identified through Sanger sequencing. Nucleotide level sequence diversities of DENV-1 populations determined from SNP analysis were very low, estimated from 0.009-0.01. There were also no stop codon, frameshift or non-frameshift mutations observed in the E genes of any lineage. No significant correlations between the accumulation of deleterious mutations or increasing genetic diversity and lineage extinction were observed (p>0.5). Although our hypothesis that accumulation of deleterious mutations over time led to the extinction and replacement of DENV lineages was ultimately not supported by the data, our data does highlight the significant technical issues that must be resolved in the way in which population diversity is measured for DENV and other viruses. The results provide an insight into the within-population genetic structure and diversity of DENV-1 populations.

Random Breath Testing Operation and Effectiveness in 1987

• In December 1986 funds were approved to double the intensity of random breath testing (RBT) and provide publicity support for police efforts. These changes were considered necessary to make RBT effective. • RBT methods were changed in the metropolitan area to enable block testing (pulling over a block of traffic rather than one or two cars), deployment of police to cut off escape routes, and testing by traffic patrols in all police subdivisions. Additional operators were trained for country RBT. • A publicity campaign was developed, aimed mainly at male drivers aged 18-50. The campaign consisted of the “cardsharp” television commercials, radio commercials, newspaper articles, posters and pamphlets. • Increased testing and the publicity campaigns were launched on 10 April 1987. • Police tests increased by 92.5% in May – December 1987, compared with the same period in the previous four years. • The detection rate for drinking drivers picked up by police who were cutting off escape routes was comparatively high, indicating that drivers were attempting to avoid RBT, and that this police method was effective at detecting these drivers. • A telephone survey indicated that drivers were aware of the messages of the publicity campaign. • The telephone survey also indicated that the target group had been exposed to high levels of RBT, as planned, and that fear of apprehension was the major factor deterring them from drink driving. • A roadside survey of driver blood alcohol concentrations (BACs) by the University of Adelaide’s Road Accident Research Unit (RARU) showed that, between 10p.m. and 3a.m., the proportion of drivers in Adelaide with a BAC greater than or equal to 0/08 decreased by 42%. • Drivers under 21 were identified as a possible problem area. • Fatalities in the twelve month period commencing May 1987 decreased by 18% in comparison with the previous twelve month period, and by 13% in comparison with the average of the previous two twelve month periods (commencing May 1985 and May 1986). There are indications that this trend is continuing. • It is concluded that the increase in RBT, plus publicity, was successful in achieving its aims of reductions in drink driving and accidents.

No genetic support for a contribution of prostaglandins to the aetiology of androgenetic alopecia

MADAM, Androgenetic alopecia (AGA) is a common age-dependent trait, characterized by a progressive loss of hair from the scalp. The hair loss may commence during puberty and up to 80% of white men experience some degree of AGA during their lifetime.1 Research has established that two essential aetiological factors for AGA are a genetic predisposition and the presence of androgens (male sex hormones).1,2 A recent meta-analysis of genome-wide association studies (GWAS) has increased the number of identified loci associated with this trait at the molecular level to a total of eight.3 However, despite these successes, a large fraction of the genetic contribution remains to be identified. One way to identify further genetic loci is to combine the resource of GWAS datasets with knowledge about specific biological factors likely to be involved in the development of disease. The focused evaluation of a limited number of candidate genes in GWAS datasets avoids the necessity for extensive correction for multiple testing, which typically limits the power for detecting genetic loci at a genome-wide level.4 Because the presence of genetic association suggests that candidate genes are likely to operate early in the causative chain of events leading to the phenotype, this approach may also function to favour biological pathways for their importance in the development of AGA.

The development and preliminary testing of an instrument for assessing fatigue self-management outcomes in patients with advanced cancer

Background: Fatigue is one of the most distressing and commonly experienced symptoms in patients with advanced cancer. Although the self-management (SM) of cancer-related symptoms has received increasing attention, no research instrument assessing fatigue SM outcomes for patients with advanced cancer is available. Objectives: to describe the development and preliminary testing of an interviewer administered instrument for assessing the frequency, and perceived levels of effectiveness and self-efficacy associated with fatigue SM behaviors in patients with advanced cancer. Methods: The development and testing of the Self-efficacy in Managing Symptoms Scale- Fatigue Subscale for Patients with Advanced Cancer (SMSFS-A) involved a number of procedures: item-generation using a comprehensive literature review and semi-structured interviews, content validity evaluation using expert panel reviews, and face validity and test-retest reliability evaluation using pilot testing. Results: Initially, 23 items (22 specific behaviors with one global item) were generated from the literature review and semi-structured interviews. After two rounds of expert panel review, the final scale was reduced to 17 items (16 behaviors with one global item). Participants in the pilot test (n=10) confirmed that the questions in this scale were clear and easy to understand. Bland-Altman analysis showed agreement of results over a one-week interval. Conclusions: The SMSFS-A items were generated using multiple sources. This tool demonstrated preliminary validity and reliability. Implications for practice: The SMSFS-A has the potential to be used for clinical and research purposes. Nurses can use this instrument for collecting data to inform the initiation of appropriate fatigue SM support for this population.

Variants in EMX2 and PTEN do not contribute to risk of endometriosis

Endometriosis has a genetic component, and significant linkage has been found to a region on chromosome 10q. Two candidate genes, EMX2 and PTEN, implicated in both endometriosis and endometrial cancer, lie on chromosome 10q. We hypothesized that variation in EMX2 and/or PTEN could contribute to the risk of endometriosis and may account for some of the linkage signal on 10q. We genotyped single nucleotide polymorphisms (SNPs) in a case-control design to evaluate association between endometriosis and common variations in these two genes. The genotyping and statistical analysis were based on samples collected from Australian volunteers. The cases were 768 unrelated women with surgically confirmed endometriosis selected from affected sister pair (ASP) families participating in the Australian Genes behind Endometriosis Study. The controls were 768 female participants in twin studies who, based on screening questions, did not have a diagnosis of endometriosis. Genotypes of 22 SNPs in the EMX2 gene and 15 SNPs in the PTEN gene were the main outcome measures. Statistical analysis provided measures of linkage disequilibrium and association. Permutation testing showed no globally significant association between any SNPs or haplotypes and endometriosis for either gene. It is unlikely that the EMX2 or PTEN gene variants investigated contribute to risk for initiation and/or development of endometriosis.