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Copy number variation refers to regions along chromosomes that harbor a type of structural variation, such as duplications or deletions. Copy number variants ( CNVs) play a role in many important traits as well as in genetic diversity. Previous analyses of chickens using array comparative genomic hybridizations or single-nucleotide polymorphism chip assays have been performed on various breeds and genetic lines to discover CNVs. In this study, we assessed individuals from two highly inbred (inbreeding coefficiency > 99.99%) lines, Leghorn G- B2 and Fayoumi M15.2, to discover novel CNVs in chickens. These lines have been previously studied for disease resistance, and to our knowledge, this represents the first global assessment of CNVs in the Fayoumi breed. Genomic DNA from individuals was examined using the Agilent chicken 244 K comparative genomic hybridization array and quantitative PCR. We identified a total of 273 CNVs overall, with 112 CNVs being novel and not previously reported. Quantitative PCR using the standard curve method validated a subset of our array data. Through enrichment analysis of genes within CNV regions, we observed multiple chromosomes, terms and pathways that were significantly enriched, largely dealing with the major histocompatibility complex and immune responsiveness. Using an additional round of computational and statistical analysis with a different bioinformatic pipeline, we identified 43 CNVs among these as high-confidence regions, 14 of which were found to be novel. We further compared and contrasted individuals of the two inbred lines to discover regions that have a significant difference in copy number between lines. A total of 40 regions had significant deletions or duplications between the lines. Gene Ontology analysis of genomic regions containing CNVs between lines also was performed. This between-line candidate CNV list will be useful in studies with these two unique genetic lines, which may harbor variations that underlie quantitative trait loci for disease resistance and other important traits. Through the global discovery of novel CNVs in chicken, these data also provide resources for further genetic and functional genomics studies. [ABSTRACT FROM AUTHOR]

To evaluate the ability to use DNA pools with the Illumina Infinium genotyping platform, two sets of gradient pools were created using two pairs of highly inbred chicken lines. Replicate pools containing 0%, 10%, 20%, 40%, 60%, 80%, 90% and 100% of DNA from line A vs. B or line C vs. D were created, for a total of 28 pools. All pools were genotyped for 12 046 SNPs. Three frequency estimation methods proposed in the literature (standard, heterozygote-corrected and normalized) were compared with three alternate methods proposed herein based on mean square error (MSE), bias and variance of estimated vs. true allele frequencies and the fit of regression of estimated on true frequencies. The three new methods had average square root MSE of 4.6%, 4.6% and 4.7% compared to 5.2%, 5.5% and 11.2% for the three literature methods. Average absolute biases of the literature methods were 2.4%, 2.7% and 8.2% compared to 2.4% for all new methods. Standard deviations of estimates were also smaller for the new methods, at 3.1%, 3.2% and 3.2% compared to 3.5%, 4.0% and 5.0% for previously reported methods. In conclusion, intensity data from the Illumina Infinium Assay can be efficiently used to estimate allele frequencies in pools, in particular using any of the new methods proposed herein. [ABSTRACT FROM AUTHOR]

The ability for nurse educators to improve the empathy skill set of nurses has been the subject of several studies with varied outcomes. The aim of this paper is to review the evidence for empathy education programmes in nursing and make recommendations for future nurse education. A review of CINAHL, Medline, Psych Info and Google Scholar was undertaken using the keywords empathy, person centredness, patient centredness, client centredness, education and nursing. The studies included were required to have measured the effectiveness of empathy training in postgraduate and or undergraduate nurses. The included studies incorporated both qualitative and quantitative methods and were published in peer-reviewed journals. Studies were ranked for level of evidence according to The Joanna Briggs Institute criteria. Seventeen studies from the literature review were found that met the inclusion criteria. Of the 17 studies, 11 reported statistically significant improvements in empathy scores versus six studies that did not. Several variables may affect empathy education that need to be accounted in future studies such as; gender, cultural values and clinical speciality experience. Models of education that show most promise are those that use experiential styles of learning. The studies reviewed demonstrated that it is possible to increase nurses' empathic ability. [ABSTRACT FROM AUTHOR]

Practice development is widely described as: 'ways in which knowledge and skills development is used to provide better patient care'. This article will outline a mental health units approach and experience of implementing collaborative practice development processes which identify values and beliefs and enable the development of a framework of action to effect positive change. A qualitative participatory action research design was used to engage participants in exploring and critiquing relevant workplace culture issues. The project was divided into four chronological stages: values clarification; claims, concerns and issues; barriers, enablers and actions; and action planning. The results of this project highlight a number of issues for practice development approaches. We believe that these processes are easily transferable to other organizations within health care. Copyright © 2009 John Wiley & Sons, Ltd. [ABSTRACT FROM AUTHOR]

Consumer satisfaction is today, widely accepted as a measure of the level and quality of service received by consumers. The aim of this survey-based study is to explore consumer satisfaction with quality of care, staff, environment and discharge in a south eastern Sydney adult acute inpatient mental health unit. A cross-sectional analysis is pursued in order to identify aspects of the patient stay, which form an associative relationship with an overall rating of consumer satisfaction on a 10-point scale. During the survey period, there were 182 discharges. Seventy questionnaires (38.5%) were returned from this group. The survey results highlight a number of areas of identified need, enabling the service to prioritize organizational systems around meeting these needs. Multiple regression analysis identified three items in the survey, which were independently significant associates of overall consumer satisfaction. They included being happy with the service provided by the consumer support worker, having support for services on discharge and feeling safe and secure on the ward. The model containing these three items accounted for 50% of the variation in overall satisfaction. Two primary interventions have been developed because survey administration which, it is hoped, will address issues raised in the survey. The interventions were the development of an admission and discharge pathway and a ward-based psychosocial intervention programme, which includes the involvement of consumer support workers. [ABSTRACT FROM AUTHOR]

The high prevalence of metabolic syndrome (MetS) in people with a mental illness has been reported recently in the literature. Gaps have emerged in the widespread use of systematic screening methods that identify this collection of critical risk factors for cardiac and metabolic disorders in people with severe mental illness. A sample (n = 103) of consumers with severe mental illness was screened for MetS using the Metabolic Syndrome Screening Tool and compared to a sample (n = 72) of consumers who were not receiving a systematic approach to screening for MetS. The results demonstrated ad hoc screening of consumers for MetS in the comparison group, potentially leaving patients at risk of cardiac and metabolic disorders being untreated. Mental health nurses are well placed to show leadership in the screening, treatment, and ongoing management of MetS in people with severe mental illness. A potential new speciality role entitled the 'cardiometabolic mental health nurse' is proposed as a means leading to improved outcomes for consumers who have both the complication of physical health problems and a severe mental illness. [ABSTRACT FROM AUTHOR]

Genome-wide association studies have become possible in the chicken because of the recent availability of the complete genome sequence, a polymorphism map and high-density single nucleotide polymorphism (SNP) genotyping platforms. We used these tools to study the genetic basis of a very high level of heterosis that was previously observed for fatness in two F2 populations established by crossing one outbred broiler (meat-type) sire with dams from two unrelated, highly inbred, light-bodied lines (Fayoumi and Leghorn). In each F2 population, selective genotyping was carried out using phenotypically extreme males for abdominal fat percentage (AF) and about 3000 SNPs. Single-point association analysis of about 500 informative SNPs per cross showed significant association ( P < 0.01) of 15 and 24 markers with AF in the Broiler × Fayoumi and Broiler × Leghorn crosses respectively. These SNPs were on 10 chromosomes (GGA1, 2, 3, 4, 7, 8, 10, 12, 15 and 27). Interestingly, of the 39 SNPs that were significantly associated with AF, there were about twice as many homozygous genotypes associated with higher AF that traced back to the inbred lines alleles, although the broiler line had on average higher AF. These SNPs are considered to be associated with QTL with cryptic alleles. This study reveals cryptic alleles as an important factor in heterosis for fatness observed in two chicken F2 populations, and suggests epistasis as the common underlying mechanism for heterosis and cryptic allele expression. The results of this study also demonstrate the power of high marker-density SNP association studies in discovering QTL that were not detected by previous microsatellite-based genotyping studies. [ABSTRACT FROM AUTHOR]

A 63-year-old female with known empty sella syndrome underwent coronary artery bypass grafting surgery. She became hypotensive immediately postoperatively and this did not respond to fluid resuscitation and inotropic therapy. Surgical re-exploration was undertaken and did not reveal any surgical cause. Pulmonary artery catheterisation confirmed a profound vasodilatory component to her shock. We believe this was due to unmasking of posterior pituitary hypofunction, in particular vasopressin insufficiency, due to metabolic stress. This rapidly corrected with an exogenous vasopressin infusion. [ABSTRACT FROM AUTHOR]

The neural networks in the crustacean stomatogastric ganglion are modulated by neuroactive substances released locally into the neuropil of the stomatogastric ganglion and by circulating hormones released by neuroendocrine structures including the pericardial organs. Using nanoscale liquid chromatography coupled to electrospray ionization quadrupole-time-of-flight mass spectrometry, we have identified and sequenced a novel B type allatostatin (CbAST-B1), VPNDWAHFRGSWamide, present in the pericardial organs of the crabs, Cancer borealis, and Cancer productus. We describe the physiological actions of CbAST-B1 on the pyloric rhythm of the stomatogastric ganglion of the crab, Cancer borealis. CbAST-B1 reduces the pyloric network frequency in a dose-dependent manner. The effect of bath-applied CbAST-B1 depends on the preceding physiological state of the preparation. Surprisingly, despite marked amino-acid sequence dissimilarity between the novel CbAST-B1 and the A type allatostatin family of peptides (AST-A), the physiological effects of CbAST-B1 are similar to those of AST-A. [ABSTRACT FROM AUTHOR]

Summary Antibody responses (primary and secondary phases) were measured in an F2 population. The resource population was derived from grandsires of two highly inbred major histocompatibility complex (MHC)-congenic Fayoumi chicken lines (named M5.1 and M15.2) mated with highly inbred Leghorn G-B1 hens. Secondary phase parameters of maximum titres (Ymax) and time required to achieve Ymax (Tmax) were estimated from post-secondary titres by using a non-linear regression model. Associations of single nucleotide polymorphisms (SNP) in transforming growth factor β 2 (TGFB2 ), 3, and 4 genes with antibody response parameters were evaluated. Multiple immune response parameters were significantly associated with the TGFB2 gene primarily in the lineage of the M5.1 grandsire, suggesting that TGFB2 or linked genes affect antibody response in hens. Significant main effects of the three genes were mostly found in the lineage of the M5.1 grandsire. Significant two-way interactions on antibody response were primarily detected between TGFB3 and TGFB4 genes, and in the lineage of the M15.2 grandsire. Effects preferentially detectable in only one of the MHC-congenic lineages suggest that there was interaction between the MHC and TGFB genes. The characterized TGFB SNPs might be applied in marker-assisted selection to improve antibody production. [ABSTRACT FROM AUTHOR]

Summary A unique outbred by inbred F1 resource population was established. The population structure facilitated the unique opportunity of examining gene by genetic background interaction through crossing two modern broiler sires with dams from two unrelated inbred lines, with no selection for growth rate, to produce about 600 F1 chicks. Pools of DNA were generated from the phenotypic extremes (20% high and low) for 8-week body weight for each of the four combinations of sire and dam line. For one sire family, pools were also separately generated for each sex. The pools were genoyped with 25 informative (segregating) microsatellites. This unique F1 cross between outbred and inbred populations allowed use of the inbred alleles as an ‘internal control’ for polymerase chain reaction amplification quality in DNA pools. Ten microsatellites showed marked differences (P < 0.05) in allele frequencies between high and low pools, suggesting an association between marker and quantitative trait loci (QTL). These differences were verified using selective genotyping. For many markers, differences in allele frequencies between the high and the low pools, or marker effect, varied between the two dam lines and the two sexes, suggesting an interaction between some genes and the genetic background as represented by different dam lines or sexes. The suggestive marker–QTL associations identified in this F1 population demonstrate the efficiency of this population design while different QTL effects in different genetic line crosses and sexes highlight the importance of gene by genetic background interaction in QTL detection. [ABSTRACT FROM AUTHOR]

Abstract Aims Screening for Type 2 diabetes does not meet all the criteria for screening, yet is increasingly proposed. The views of health care professionals towards screening for Type 2 diabetes are not known. We set out to explore the attitudes and beliefs held by general practitioners (GPs) and practice nurses towards screening for Type 2 diabetes. Methods Semistructured interviews with 10 GPs and nine practice nurses in eight general practices in North-east England. Data collection and analysis proceeded in an iterative manner in accordance with grounded theory. Results Practitioners who perceive themselves to be most aware of the evid-ence base surrounding screening for Type 2 diabetes are least likely to support its introduction. Those who support screening for Type 2 diabetes hold a ‘common sense’ viewpoint that earlier detection must be better and believe that patients demand and respect early diagnosis. Practitioners acknowledge a lack of knowledge and skills to promote lifestyle changes. This deficiency is combined with workload issues, contributing towards a medicalized view of diabetes screening. Conclusions The belief that screening for Type 2 diabetes is worthwhile is based not on evidence for the effectiveness of screening, but rather on a complex interaction of factors including perceptions of patient desires and an interplay of previous experience and evidence from other sources. Increased resources would be most likely to promote screening in primary care. [ABSTRACT FROM AUTHOR]

BACKGROUND: Excessive alcohol consumption causes significant mortality, morbidity, economic and social problems in the United Kingdom (UK). Despite strong evidence for the effectiveness of brief intervention to reduce excessive drinking in primary health care, there is little indication that such intervention routinely occurs. AIMS: This study aimed to explore primary health care nurses' attitudes and practices regarding brief alcohol intervention in order to understand why it is underexploited. METHODS: The study design was qualitative, using a grounded theory approach to data collection and analysis. Semi-structured in-depth interviews were conducted with 24 nurses from practices that had previously been involved in a General Practitioner (GP) led brief alcohol intervention trial in the North-east of England. A combination of convenience and purposive sampling was used to recruit subjects and gain a broad range of perspectives on issues emerging from ongoing data-analysis until data saturation occurred. RESULTS: It was clear that although primary health care nurses have many opportunities to engage in alcohol intervention, most have received little or no preparation for this work. This has left nurses at a disadvantage as alcohol consumption is a confusing and emotive area for both health professionals and patients. An analysis of factors influencing nurse involvement in alcohol intervention outlined a requirement for clear health messages about alcohol, training in intervention skills, facilitation to enhance confidence regarding intervention and support to help deal with negative patient reactions. CONCLUSIONS: As current health policy is to encourage, sustain and extend the health promotion and public health role of primary care nurses, more attention should be given to providing them with better preparation and support to carry out such work. [ABSTRACT FROM AUTHOR]

The paper articulates the problems of journal publication in a relatively small country such as Romania where locally (i.e. nationally) published journals include most of the national medical scientific output. The starting point was a study ordered by the Cluj University of Medicine and Pharmacy Scientific Council, for the purpose of obtaining an objectively ranked list of all current Romanian biomedical journals that could be used in the evaluation of the scientific activity of the university academic staff. Sixty-five current biomedical journals were identified--of which more than half were new titles that had appeared over the past 5 years. None of these are included in the Science Citation Index or Journal Citation Reports (JCR). A set of criteria was used for ranking the journals: peer review, inclusion in international databases, publication time lag, language of articles and abstracts, journal specific index and domestic impact factor. The period covered, along with tools and formulas used are presented. The problems of Romanian biomedical journals as well as ways of improving publishing standards are discussed. Also emphasized is the necessity for increased awareness in the medical scholarly community and the role of the library in this respect. [ABSTRACT FROM AUTHOR]

Three commercial broiler pure lines were evaluated for associations of sire BF2 (major histocompatibility complex class I) alleles with progeny phenotypic traits. Significant BF2 associations with a subset of traits were observed in two lines. The BF2*21 allele was positively associated with antibody titre to infectious bursal disease virus in both lines. Other associations were line-specific. [ABSTRACT FROM AUTHOR]

The Mx1 gene in mice is induced by type I interferons and is the major determinant of resistance to influenza virus and related orthomyxoviruses. It has been previously shown that a SNP in exon 13 of the chicken MX1 gene determines differential antiviral activity of the protein. We evaluated this SNP and two additional SNPs in elite broiler lines by PCR amplification and sequence analysis. Associations between MX1 exon 13 SNPs and several traits of economic interest were evaluated. Significant associations were found between the SNP determining antiviral activity and mortality in one line and leg defects in another line. [ABSTRACT FROM AUTHOR]

Examines the linkage mapping of inhibitor of apoptosis protein-1 to chicken chromosome 1. Involvement of inhibitor of apoptosis protein-1 in antiapoptotic pathways including binding and inhibiting caspases and modulating receptor-mediated signal transduction; Link of single nucleotide polymorphism with Salmonella enteriditis burden in the spleen of bacteria-challenged chicks; Use of primers for mapping.

Forty-two microsatellite loci were analysed in 23 highly inbred chicken lines derived from Leghorn, Jungle Fowl, Fayoumi and Spanish breeds. Line-specific alleles among breeds and lines were detected. The band-sharing (BS) values were calculated and the proportion of shared alleles distances (Dps) were estimated. The BS values and Dps between sets of MHC-congenic lines ranged from 0·74 to 0·96, and 0·05–0·35, respectively. The BS values between each pair of noncongenic Leghorn lines were 0·32–0·97, and between Leghorn and exotic (Jungle Fowl, Fayoumi and Spanish) breeds were 0·03–0·55. The Dps between Fayoumi lines and other lines were much larger (0·66–1·34) than within Leghorns, and the Jungle Fowl breed had the largest distances with other lines (1·12–5·38). The phylogenetic consensus tree that was constructed grouped these 23 inbred chicken lines into four different clusters. These results are in accordance with the origin and breeding history of these inbred lines, which indicates that the use of microsatellites for the study of genetic biodiversity is accurate and reliable. In addition, the significance and value of inbred chicken lines in molecular genetic research is discussed. [ABSTRACT FROM AUTHOR]

The major histocompatibility complex (MHC) region was examined as a set of candidate genes for association between DNA markers and antibody response. Intercross F2 families of chickens were generated from a cross between high (HC) and low (LC) Escherichia colii antibody lines. Restriction fragment length polymorphism (RFLP) analysis was conducted by using three MHC-related cDNA probes: chicken MHC class IV (B-G), chicken MHC class I (B-F), and human MHC-linked Tap2. Association between RFLP bands and three antibody response traits (E. coli, sheep red blood cells and Newcastle disease virus) were determined by two methods: by statistically analyzing each band separately and also by analyzing all bands obtained from the three probes by using multiple regression analysis to account for the multiple comparisons. The MHC class IV probe was the highest in polymorphisms but had the lowest number of bands associated with antibody response. The MHC class I probe yielded 15 polymorphic bands of which four exhibited association with antibody response traits. The Tap2 probe yielded 20 different RFLP bands of which five were associated with antibody production. Some Tap2 bands were associated with multiple antibody response traits. The multiband analysis of the three probes’ bands revealed more significant effects than the analysis of each band separately. This study illustrates the efficacy of using multiple MHC region probes as candidate markers for quantitative trait loci (QTLs) controlling antibody response in chickens. [ABSTRACT FROM AUTHOR]

Genome-wide association studies have become possible in the chicken because of the recent availability of the complete genome sequence, a polymorphism map and high-density single nucleotide polymorphism (SNP) genotyping platforms. We used these tools to study the genetic basis of a very high level of heterosis that was previously observed for fatness in two F(2) populations established by crossing one outbred broiler (meat-type) sire with dams from two unrelated, highly inbred, light-bodied lines (Fayoumi and Leghorn). In each F(2) population, selective genotyping was carried out using phenotypically extreme males for abdominal fat percentage (AF) and about 3000 SNPs. Single-point association analysis of about 500 informative SNPs per cross showed significant association (P < 0.01) of 15 and 24 markers with AF in the Broiler x Fayoumi and Broiler x Leghorn crosses respectively. These SNPs were on 10 chromosomes (GGA1, 2, 3, 4, 7, 8, 10, 12, 15 and 27). Interestingly, of the 39 SNPs that were significantly associated with AF, there were about twice as many homozygous genotypes associated with higher AF that traced back to the inbred lines alleles, although the broiler line had on average higher AF. These SNPs are considered to be associated with QTL with cryptic alleles. This study reveals cryptic alleles as an important factor in heterosis for fatness observed in two chicken F(2) populations, and suggests epistasis as the common underlying mechanism for heterosis and cryptic allele expression. The results of this study also demonstrate the power of high marker-density SNP association studies in discovering QTL that were not detected by previous microsatellite-based genotyping studies.

Breeding for disease resistance to Salmonella enteritidis (SE) could be an effective approach to control Salmonella in poultry. The candidate gene approach is a useful method to investigate genes that are involved in genetic resistance. In this study, 12 candidate genes that are involved in the pathogenesis of Salmonella infection were investigated using five different genetic groups of meat-type chicken. The genes were natural resistance associated macrophage protein 1 (SLC11A1, previously known as NRAMP1), inhibitor of apoptosis protein 1 (IAP1), prosaposin (PSAP), Caspase-1 (CASP1), inducible nitric oxide production (iNOS), interferon-gamma (IFNG), interleukin-2 (IL2), immunoglobulin light chain (IGL), ZOV3, and transforming growth factors B2, B3 and B4 (TGFB2, B3 and B4). In total, 117 birds of all groups were challenged with SE at the age of 3 weeks. In all birds at 7-day post-infection SE load in caecum content, spleen and liver were quantified. Polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) assays were used to genotype all animals for each gene. Overall we found the most significant associations with caecum content, nine of 12 genes showed a significant association (SLC11A1, IAP1, PSAP, CASP1, iNOS, IL2, IGL, TGFB2 and TGFB4). For liver, five genes (SLC11A1, CASP1, IL2, IGL, and TGFB4) and for spleen, only one gene (TGFB3) showed a significant association with SE load. By showing associations of 12 PCR-RFLP assays with SE load after a pathogen challenge, this study confirmed the polygenic nature of disease resistance to SE.

A potential limitation of the use of a dominant molecular marker system such as DNA fingerprinting (DFP) is the inability to distinguish homozygous from heterozygous allele state in an individual, and a resulting inaccuracy in estimating effects of the marker alleles. The objective of this study was to accurately estimate the effect of DFP markers on egg-production traits. A BC1 population was produced from two distinct layer lines. Four DFP bands, each originating predominantly in one of the two parental lines, were evaluated for linkage with egg-production quantitative trait loci in the BC1 population. The egg-production traits consisted of eight early period and seven late period measurements. Eight marker-trait linkages were identified out of 60 total statistical tests. By utilizing information on frequency of DFP bands in two parental lines, selecting F1 sires with DFP bands present, and backcrossing to the line lacking these bands, the population design allowed definitive identification of the DFP zygosity in the BC1 resource population hens. In this manner, accurate estimates of marker allele effects on egg-production traits were obtained from the dominant marker system of DNA fingerprinting.

A unique outbred by inbred F1 resource population was established. The population structure facilitated the unique opportunity of examining gene by genetic background interaction through crossing two modern broiler sires with dams from two unrelated inbred lines, with no selection for growth rate, to produce about 600 F1 chicks. Pools of DNA were generated from the phenotypic extremes (20% high and low) for 8-week body weight for each of the four combinations of sire and dam line. For one sire family, pools were also separately generated for each sex. The pools were genoyped with 25 informative (segregating) microsatellites. This unique F1 cross between outbred and inbred populations allowed use of the inbred alleles as an 'internal control' for polymerase chain reaction amplification quality in DNA pools. Ten microsatellites showed marked differences (P < 0.05) in allele frequencies between high and low pools, suggesting an association between marker and quantitative trait loci (QTL). These differences were verified using selective genotyping. For many markers, differences in allele frequencies between the high and the low pools, or marker effect, varied between the two dam lines and the two sexes, suggesting an interaction between some genes and the genetic background as represented by different dam lines or sexes. The suggestive marker-QTL associations identified in this F1 population demonstrate the efficiency of this population design while different QTL effects in different genetic line crosses and sexes highlight the importance of gene by genetic background interaction in QTL detection.