Serum lipoproteins in the diabetes control and complications trial/epidemiology of diabetes intervention and complications cohort:associations with gender and glycemia

To relate the nuclear magnetic resonance (NMR)-determined lipoprotein profile, conventional lipid and apolipoprotein measures, and in vitro oxidizibility of LDL with gender and glycemia in type 1 diabetes.

Is Use of Optional Attributes and Associations in Conceptual Modeling Always Problematic? Theory and Empirical Tests

Prior research has argued that use of optional properties in conceptual models results in loss of information about the semantics of the domains represented by the models. Empirical research undertaken to date supports this argument. Nevertheless, no systematic analysis has been done of whether use of optional properties is always problematic. Furthermore, prior empirical research might have deliberately or unwittingly employed models where use of optionality always causes problems. Accordingly, we examine analytically whether use of optional properties is always problematic. We employ our analytical results to inform the design of an experiment where we systematically examined the impact of optionality on users’ ability to understand domains represented by different types of conceptual models. We found evidence that use of optionality undermines users’ ability to understand the domain represented by a model but that this effect weakens when use of mandatory properties to replace optional properties leads to more-complex models.

Associations between repetitive questioning, resistance to change, temper outbursts and anxiety in Prader-Willi and Fragile-X syndromes

The behavioural phenotypes of Prader-Willi (PWS) and Fragile-X (FraX) syndromes both comprise repetitive behaviours with differences between the profiles. In this study we investigated the context and antecedents to the repetitive behaviours and the association with other behavioural phenotypic characteristics in order to generate testable hypotheses regarding the cause of the behaviours.

The parents or carers of 46 children with PWS (mean age 14.1 years; 20 girls), and 33 boys with FraX (mean age 13.11 years) were interviewed about their children's repetitive behaviour in a semi-structured format.

Children showed negative emotional behaviour (PWS: 87.0%; FraX: 79.4%) and repetitive questions (PWS: 78.3%; FraX: 73.5%) following changes in routine or expectations. Significantly more temper outbursts were reported to follow changes in children with PWS (89.1%) compared with boys with FraX (41.2%) (chi(2) = 20.93; P <0.001). Anxiety that was frequently associated with repetitive and self-injurious behaviours in boys with FraX, followed changes in significantly more boys with FraX (76.5%) compared with children with PWS (6.5%) (chi(2) = 43.19, P <0.001).

On the basis of these reports and existing literature, we hypothesise that decreases in predictability are aversive to children with PWS and FraX. We also hypothesise that these children have a propensity to show a syndrome-related pattern of behaviour (temper outbursts in PWS and displays of anxiety in FraX) when an event in the environment has this aversive property. We hypothesise that questions may be reinforcing to children in their own right by increasing the predictability of the environment. We outline how a specific cognitive deficit in the endophenotypes associated with both PWS and FraX could be investigated as a potential explanation for the hypothesised aversive properties of decreased predictability.

Counterphase modulation flicker photometry: phenotypic and genotypic associations

The OSCAR test, a clinical device that uses counterphase flicker photometry, is believed to be sensitive to the relative numbers of long-wavelength and middle-wavelength cones in the retina, as well as to individual variations in the spectral positions of the photopigments. As part of a population study of individual variations in perception, we obtained OSCAR settings from 1058 participants. We report the distribution characteristics for this cohort. A randomly selected subset of participants was tested twice at an interval of at least one week: the test-retest reliability (Spearman's rho) was 0.80. In a whole-genome association analysis we found a provisional association with a single nucleotide polymorphism (rs16844995). This marker is close to the gene RXRG, which encodes a nuclear receptor, retinoid X receptor γ. This nuclear receptor is already known to have a role in the differentiation of cones during the development of the eye, and we suggest that polymorphisms in or close to RXRG influence the relative probability with which long-wave and middle-wave opsin genes are expressed in human cones.

Periodontal systemic associations: review of the evidence

Aim: To critically appraise recent research into associations between periodontal disease and systemic diseases and conditions specifically respiratory disease, chronic kidney disease, rheumatoid arthritis, cognitive impairment, obesity, metabolic syndrome and cancer.

Methods: A MEDLINE literature search of papers published between 2002 and April 2012 was conducted. Studies that included periodontitis as an exposure were identified. Cross-sectional epidemiological investigations on large samples, prospective studies and systematic reviews formed the basis of the narrative review. A threshold set for the identification of periodontitis was used to identify those studies that contributed to the conclusions of the review.

Results: Many of the investigations were cross-sectional secondary analyses of existing data sets in particular the NHANES studies. There were a small number of systematic reviews and prospective studies. There was substantial variability in the definitions of exposure to periodontitis. A small number of studies met the threshold set for periodontitis and supported associations; however, in some of the chronic diseases there were no such studies. There was strong evidence from randomized controlled trials that interventions, which improve oral hygiene have positive effects on the prevention of nosocomial pneumonias.

Conclusions: There was substantial heterogeneity in the definitions used to identify periodontitis and very few studies met a stringent threshold for periodontitis. Published evidence supports modest associations between periodontitis and some, although not all, of the diseases and conditions reviewed. There is a need to reach a consensus on what constitutes periodontitis for future studies of putative associations with systemic diseases.

Genome-wide significant associations in schizophrenia to ITIH3/4, CACNA1C and SDCCAG8, and extensive replication of associations reported by the Schizophrenia PGC

The Schizophrenia Psychiatric Genome-Wide Association Study Consortium (PGC) highlighted 81 single-nucleotide polymorphisms (SNPs) with moderate evidence for association to schizophrenia. After follow-up in independent samples, seven loci attained genome-wide significance (GWS), but multi-locus tests suggested some SNPs that did not do so represented true associations. We tested 78 of the 81 SNPs in 2640 individuals with a clinical diagnosis of schizophrenia attending a clozapine clinic (CLOZUK), 2504 cases with a research diagnosis of bipolar disorder, and 2878 controls. In CLOZUK, we obtained significant replication to the PGC-associated allele for no fewer than 37 (47%) of the SNPs, including many prior GWS major histocompatibility complex (MHC) SNPs as well as 3/6 non-MHC SNPs for which we had data that were reported as GWS by the PGC. After combining the new schizophrenia data with those of the PGC, variants at three loci (ITIH3/4, CACNA1C and SDCCAG8) that had not previously been GWS in schizophrenia attained that level of support. In bipolar disorder, we also obtained significant evidence for association for 21% of the alleles that had been associated with schizophrenia in the PGC. Our study independently confirms association to three loci previously reported to be GWS in schizophrenia, and identifies the first GWS evidence in schizophrenia for a further three loci. Given the number of independent replications and the power of our sample, we estimate 98% (confidence interval (CI) 78-100%) of the original set of 78 SNPs represent true associations. We also provide strong evidence for overlap in genetic risk between schizophrenia and bipolar disorder.

Young children's food brand knowledge. Early development and associations with television viewing and parent's diet

Brand knowledge is a prerequisite of children's requests and choices for branded foods. We explored the development of young children's brand knowledge of foods highly advertised on television - both healthy and less healthy. Participants were 172 children aged 3-5 years in diverse socio-economic settings, from two jurisdictions on the island of Ireland with different regulatory environments. Results indicated that food brand knowledge (i) did not differ across jurisdictions; (ii) increased significantly between 3 and 4 years; and (iii) children had significantly greater knowledge of unhealthy food brands, compared with similarly advertised healthy brands. In addition, (iv) children's healthy food brand knowledge was not related to their television viewing, their mother's education, or parent or child eating. However, (v) unhealthy brand knowledge was significantly related to all these factors, although only parent eating and children's age were independent predictors. Findings indicate that effects of food marketing for unhealthy foods take place through routes other than television advertising alone, and are present before pre-schoolers develop the concept of healthy eating. Implications are that marketing restrictions of unhealthy foods should extend beyond television advertising; and that family-focused obesity prevention programmes should begin before children are 3 years of age.

Associations between Achievement Goal Orientations and Academic Performance Among Students at a UK Pharmacy School

Objective. To ascertain goal orientations of pharmacy students and establish whether associations exist between academic performance, gender, or year of study. Methods. Goal orientations were assessed using a validated questionnaire. Respondents were categorized as high or low performers based on university grades. Associations and statistical significance were ascertained using parametric and nonparametric tests and linear regression, as appropriate. Results. A response rate of 60.7% was obtained. High performers were more likely to be female than male. The highest mean score was for mastery approach; the lowest for work avoidance. The mean score for work avoidance was significantly greater for low performers than for high performers and for males than for females. First-year students were most likely to have top scores in mastery and performance approaches. Conclusion. It is encouraging that the highest mean score was for mastery approach orientation, as goal orientation may play a role in academic performance of pharmacy students.

Family-based associations in measures of psychological distress and quality of life in a cardiac screening clinic for inheritable cardiac diseases: a cross-sectional study

BACKGROUND: Family-based cardiac screening programmes for persons at risk for genetic cardiac diseases are now recommended. However, the psychological wellbeing and health related quality of life (QoL) of such screened patients is poorly understood, especially in younger patients. We sought to examine wellbeing and QoL in a representative group of adults aged 16 and over in a dedicated family cardiac screening clinic.

METHODS: Prospective survey of consecutive consenting patients attending a cardiac screening clinic, over a 12 month period. Data were collected using two health measurement tools: the Short Form 12 (version 2) and the Hospital Anxiety and Depression Scale (HADS), along with baseline demographic and screening visit-related data. The HADS and SF-12v.2 outcomes were compared by age group. Associations with a higher HADS score were examined using logistic regression, with multi-level modelling used to account for the family-based structure of the data.

RESULTS: There was a study response rate of 86.6%, with n=334 patients providing valid HADS data (valid response rate 79.5%), and data on n=316 retained for analysis. One-fifth of patients were aged under 25 (n=61). Younger patients were less likely than older to describe significant depression on their HADS scale (p<0.0001), although there were overall no difference between the prevalence of a significant HADS score between the younger and older age groups (18.0% vs 20.0%, p=0.73). Significant positive associates of a higher HADS score were having lower educational attainment, being single or separated, and being closely related to the family proband. Between-family variance in anxiety and depression scores was greater than within-family variance.

CONCLUSIONS: High levels of anxiety were seen amongst patients attending a family-based cardiac screening clinic.Younger patients also had high rates of clinically significant anxiety. Higher levels of anxiety and depression tends to run in families, and this has implications for family screening and intervention programmes.

A new statistical framework for the quantification of covariate associations with species distributions

Identifying processes that shape species geographical ranges is a prerequisite for understanding environmental change. Currently, species distribution modelling methods do not offer credible statistical tests of the relative influence of climate factors and typically ignore other processes (e.g. biotic interactions and dispersal limitation). We use a hierarchical model fitted with Markov Chain Monte Carlo to combine ecologically plausible niche structures using regression splines to describe unimodal but potentially skewed response terms. We apply spatially explicit error terms that account for (and may help identify) missing variables. Using three example distributions of European bird species, we map model results to show sensitivity to change in each covariate. We show that the overall strength of climatic association differs between species and that each species has considerable spatial variation in both the strength of the climatic association and the sensitivity to climate change. Our methods are widely applicable to many species distribution modelling problems and enable accurate assessment of the statistical importance of biotic and abiotic influences on distributions.

Combining environmental and medical datasets to explore potential associations between environmental factors and health: Policy implications for human health risk assessments

This review paper discusses the use of Tellus and Tellus Border soil and stream geochemistry data to investigate the relationship between medical data and naturally occurring background levels of potentially toxic elements (PTEs) such as heavy metals in soils and water. The research hypothesis is that long-term low level oral exposure of PTEs via soil and water may result in cumulative exposures that may act as risk factors for progressive diseases including cancer and chronic kidney disease. A number of public policy implications for regional human health risk assessments, public health policy and education are also explored alongside the argument for better integration of multiple data sets to enhance ongoing medical and social research. This work presents a partnership between the School of Geography, Archaeology and Palaeoecology, Northern Ireland Cancer Registry, Queen’s University Belfast, and the nephrology (kidney medicine) research group.