Genetic and environmental influences on neuroimaging phenotypes: A meta-analytical perspective on twin imaging studies

Because brain structure and function are affected in neurological and psychiatric disorders, it is important to disentangle the sources of variation in these phenotypes. Over the past 15 years, twin studies have found evidence for both genetic and environmental influences on neuroimaging phenotypes, but considerable variation across studies makes it difficult to draw clear conclusions about the relative magnitude of these influences. Here we performed the first meta-analysis of structural MRI data from 48 studies on >1,250 twin pairs, and diffusion tensor imaging data from 10 studies on 444 twin pairs. The proportion of total variance accounted for by genes (A), shared environment (C), and unshared environment (E), was calculated by averaging A, C, and E estimates across studies from independent twin cohorts and weighting by sample size. The results indicated that additive genetic estimates were significantly different from zero for all metaanalyzed phenotypes, with the exception of fractional anisotropy (FA) of the callosal splenium, and cortical thickness (CT) of the uncus, left parahippocampal gyrus, and insula. For many phenotypes there was also a significant influence of C. We now have good estimates of heritability for many regional and lobar CT measures, in addition to the global volumes. Confidence intervals are wide and number of individuals small for many of the other phenotypes. In conclusion, while our meta-analysis shows that imaging measures are strongly influenced by genes, and that novel phenotypes such as CT measures, FA measures, and brain activation measures look especially promising, replication across independent samples and demographic groups is necessary.

Efficient and bright polymer light emitting field effect transistors

Light emitting field effect transistors (LEFETs) are emerging as a multi-functional class of optoelectronic devices. LEFETs can simultaneously execute light emission and the standard logic functions of a transistor in a single architecture. However, current LEFET architectures deliver either high brightness or high efficiency but not both concurrently, thus limiting their use in technological applications. Here we show an LEFET device strategy that simultaneously improves brightness and efficiency. The key step change in LEFET performance arises from the bottom gate top-contact device architecture in which the source/drain electrodes are semitransparent and the active channel contains a bi-layer comprising of a high mobility charge-transporting polymer, and a yellow-green emissive polymer. A record external quantum efficiency (EQE) of 2.1% at 1000cd/m2 is demonstrated for polymer based bilayer LEFETs.

On the growth process of Cu2ZnSn(S,Se)4 absorber layer formed by selenizing Cu–ZnS–SnS precursors and its photovoltaic performance

Sputtering and subsequent sulfurization(orselenization)is one of the methods that have been extensively employed to fabricate Cu2ZnSn(S,Se)4 (CZTSSe) thin films. However, there are limited reports on the effect of precursor stacking order of the sputtered source materials on the properties of the synthesized CZTSSe films. In this work,the morphology and crystallization process of the CZTSSe films which were prepared by selenizing Cu–ZnS–SnS precursor layers with different stacking sequences and the adhesion property between the as-synthesized CZTSSe layer and Mosubstrate have been thoroughly investigated. It has been found that the growth of CZTSSe material and the morphology of the film strongly depend on the location of Culayer in the precursor film. The formation of CZTSSe starts from the diffusion of Cu–Se to Sn(S,Se)layert o form Cu–Sn–(S,Se) compound,followed by the reaction with Zn(S,Se). The investigation of themorphology of the CZTSSe films has shown that large grains are formed in the film with the precursor stacking order of Mo/SnS/ZnS/Cu,which is attributed to a bottom-to-top growth mechanism. In contrast, the film made from a precursor with a stacking sequence of Mo/ZnS/ SnS/Cu is mainly consisted of small grains due to a top-to-bottom growth mechanism. The best CZTSSe solar cell with energy conversion efficiency of3.35%has been achieved with the selenized Mo/ZnS/ SnS/Cu film, which is attributed to a good contact between the absorber layer and the Mosubstrate.

Young drivers’ responses to anti-speeding advertisements: Comparison of self-report and objective measures of persuasive processing and outcomes

Objective Self-report measures are typically used to assess the effectiveness of road safety advertisements. However, psychophysiological measures of persuasive processing (i.e., skin conductance response [SCR]) and objective driving measures of persuasive outcomes (i.e., in-vehicle GPS devices) may provide further insights into the effectiveness of these advertisements. This study aimed to explore the persuasive processing and outcomes of two anti-speeding advertisements by incorporating both self-report and objective measures of speeding behaviour. In addition, this study aimed to compare the findings derived from these different measurement approaches. Methods Young drivers (N = 20, Mage = 21.01 years) viewed either a positive or negative emotion-based anti-speeding television advertisement. Whilst viewing the advertisement, SCR activity was measured to assess ad-evoked arousal responses. The RoadScout® GPS device was then installed into participants’ vehicles for one week to measure on-road speed-related driving behaviour. Self-report measures assessed persuasive processing (emotional and arousal responses) and actual driving behaviour. Results There was general correspondence between the self-report measures of arousal and the SCR and between the self-report measure of actual driving behaviour and the objective driving data (as assessed via the GPS devices). Conclusions This study provides insights into how psychophysiological and GPS devices could be used as objective measures in conjunction with self-report measures to further understand the persuasive processes and outcomes of emotion-based anti-speeding advertisements.

Public Policy for the Creative Industries

The cultural and creative industries are closely intertwined with government. This chapter reviews key economic rationales for public policy interventions for the arts, cultural and creative industries. Market failure justifications depend on the status of arts and culture as non-rival public goods, as ‘merit goods’, or the need to moderate the effects of up-front investment costs or monopoly, and the inherent uncertainty of creative production. ‘Systems failure’ too is a regular rationale for policy intervention. Using the United Kingdom as an example, the chapter shows how emphasis on these rationales has shifted over the last three decades, first in the context of industrial policies for traditional aims such as exports and job growth, which have been joined in recent years by the need for investment in intangibles, knowledge exchange, and spillover effects in the wider economy.

Biomonitoring of polycyclic aromatic hydrocarbons exposure in small groups of residents in Brisbane, Australia and Hanoi, Vietnam, and those travelling between the two cities

Exposure to polycyclic aromatic hydrocarbons (PAHs) has been associated with adverse health outcomes. Concentrations of urinary PAH metabolites (OH-PAHs) provide an integrated measure of human exposure to PAHs but measurement of urinary OH-PAHs has not been done in Australia and rarely in Vietnam, where air pollution is of concern. In this study, we assessed exposure to PAHs in 16 participants living in Brisbane, Australia and Hanoi, Vietnam, with 4 participants travelling between the two cities during the monitoring period. A total of 312 first morning urine samples were collected over 10 weeks and were analysed for nine OH-PAHs. Concentrations of the urinary OH-PAHs were 2–10 times higher in participants from Hanoi than those from Brisbane. For example, the median concentrations of 1-hydroxypyrene were 292 pg/mL in Hanoi, compared to 64 pg/mL in Brisbane. For participants travelling from Brisbane to Hanoi and back, differences in exposure to PAHs in these two cities resulted in corresponding changes of urinary OH-PAH concentrations, demonstrating that the more polluted environment in Hanoi was likely the source for higher PAH exposure there.

Overcoming language barriers in healthcare: A protocol for investigating safe and effective communication when patients or clinicians use a second language

Background Miscommunication in the healthcare sector can be life-threatening. The rising number of migrant patients and foreign-trained staff means that communication errors between a healthcare practitioner and patient when one or both are speaking a second language are increasingly likely. However, there is limited research that addresses this issue systematically. This protocol outlines a hospital-based study examining interactions between healthcare practitioners and their patients who either share or do not share a first language. Of particular interest are the nature and efficacy of communication in language-discordant conversations, and the degree to which risk is communicated. Our aim is to understand language barriers and miscommunication that may occur in healthcare settings between patients and healthcare practitioners, especially where at least one of the speakers is using a second (weaker) language. Methods/Design Eighty individual interactions between patients and practitioners who speak either English or Chinese (Mandarin or Cantonese) as their first language will be video recorded in a range of in- and out-patient departments at three hospitals in the Metro South area of Brisbane, Australia. All participants will complete a language background questionnaire. Patients will also complete a short survey rating the effectiveness of the interaction. Recordings will be transcribed and submitted to both quantitative and qualitative analyses to determine elements of the language used that might be particularly problematic and the extent to which language concordance and discordance impacts on the quality of the patient-practitioner consultation. Discussion Understanding the role that language plays in creating barriers to healthcare is critical for healthcare systems that are experiencing an increasing range of culturally and linguistically diverse populations both amongst patients and practitioners. The data resulting from this study will inform policy and practical solutions for communication training, provide an agenda for future research, and extend theory in health communication.

Gene expression profiling reveals a downregulation in immune-associated genes in patients with AS

Objective: To identify differentially expressed genes in peripheral blood mononuclear cells (PBMCs) from patients with ankylosing spondylitis (AS) compared with healthy individuals. Methods: RNA was extracted from PBMCs collected from 18 patients with active disease and 18 gender-matched and age-matched controls. Expression profiles of these cells were determined using microarray. Candidate genes with differential expressions were confirmed in the same samples using quantitative reverse transcription-PCR (qRT-PCR). These genes were then validated in a different sample cohort of 35 patients with AS and 18 controls by qRT-PCR. Results: Microarray analysis identified 452 genes detected with 485 probes which were differentially expressed between patients with AS and controls. Underexpression of NR4A2, tumour necrosis factor AIP3 (TNFAIP3) and CD69 was confirmed. These genes were further validated in a different sample group in which the patients with AS had a wider range of disease activity. Predictive algorithms were also developed from the expression data using receiver-operating characteristic curves, which demonstrated that the three candidate genes have ∼80% power to predict AS according to their expression levels. Conclusions: The findings show differences in global gene expression patterns between patients with AS and controls, suggesting an immunosuppressive phenotype in the patients. Furthermore, downregulated expression of three immune-related genes was confirmed. These candidate genes were also shown to be strong predictive markers for AS.

Association of IL23R and ERAP1 genes with ankylosing spondylitis in a Portuguese population

Objective: Association between ankylosing spondylitis (AS) and two genes, ERAP1 and IL23R, has recently been reported in North American and British populations. The population attributable risk fraction for ERAP1 in this study was 25%, and for IL23R, 9%. Confirmation of these findings to ERAP1 in other ethnic groups has not yet been demonstrated. We sought to test the association between single nucleotide polymorphisms (SNPs) in these genes and susceptibility to AS among a Portuguese population. We also investigated the role of these genes in clinical manifestations of AS, including age of symptom onset, the Bath Ankylosing Spondylitis Disease Activity, Metrology and Functional Indices, and the modified Stoke Ankylosing Spondylitis Spinal Score. Methods: The study was conducted on 358 AS cases and 285 ethnically matched Portuguese healthy controls. AS was defined according to the modified New York Criteria. Genotyping of IL23R and ERAP1 allelic variants was carried out with TaqMan allelic discrimination assays. Association analysis was performed using the Cochrane-Armitage and linear regression tests of genotypes as implemented in PLINK for dichotomous and quantitative variables respectively. A meta-analysis for Portuguese and previously published Spanish IL23R data was performed using the StatsDirect® Statistical tools, by fixed and random effects models. Results: A total of 14 nsSNPs markers (8 for IL23R, 5 for ERAPl, 1 for LN-PEP) were analysed. Three markers (2 for IL23R and 1 for ERAP1) showed significant single-locus disease associations, confirming that the association of these genes with AS in the Portuguese population. The strongest associated SNP in IL23R was rs1004819 (OR=1.4, p=0.0049), and in ERAP1 was rs30187 (OR=1.26, p=0.035). The population attributable risk fractions in the Portuguese population for these SNPs are 11% and 9.7% respectively. No association was seen with any SNP in LN-PEP, which flanks ERAP1 and was associated with AS in the British population. No association was seen with clinical manifestations of AS. Conclusions: These results show that IL23R and ERAP1 genes are also associated with susceptibility to AS in the Portuguese population, and that they contribute a significant proportion of the population risk for this disease.

Multiview gait biometrics for human identity recognition

We propose a novel multiview fusion scheme for recognizing human identity based on gait biometric data. The gait biometric data is acquired from video surveillance datasets from multiple cameras. Experiments on publicly available CASIA dataset show the potential of proposed scheme based on fusion towards development and implementation of automatic identity recognition systems.

Impact of temperature on mortality in three major Chinese cities

To study the relation between temperature and mortality by estimating the temperature-related mortality in Beijing, Shanghai, and Guangzhou. METHODS: Data of daily mortality, weather and air pollution in the three cities were collected. A distributed lag nonlinear model was established and used in analyzing the effects of temperature on mortality. Current and future net temperature-related mortality was estimated. RESULTS: The association between temperature and mortality was J-shaped, with an increased death risk of both hot and cold temperature in these cities. The effects of cold temperature on health lasted longer than those of hot temperature. The projected temperature-related mortality increased with the decreased cold-related mortality. The mortality was higher in Guangzhou than in Beijing and Shanghai. CONCLUSION: The impact of temperature on health varies in the 3 cities of China, which may have implications for climate policy making in China.

Identification of IL6R and chromosome 11q13.5 as risk loci for asthma

We aimed to identify novel genetic variants affecting asthma risk, since these might provide novel insights into molecular mechanisms underlying the disease. We did a genome-wide association study (GWAS) in 2669 physician-diagnosed asthmatics and 4528 controls from Australia. Seven loci were prioritised for replication after combining our results with those from the GABRIEL consortium (n=26 475), and these were tested in an additional 25 358 independent samples from four in-silico cohorts. Quantitative multi-marker scores of genetic load were constructed on the basis of results from the GABRIEL study and tested for association with asthma in our Australian GWAS dataset. Two loci were confirmed to associate with asthma risk in the replication cohorts and reached genome-wide significance in the combined analysis of all available studies (n=57 800): rs4129267 (OR 1·09, combined p= 2·4×10-8) in the interleukin-6 receptor (IL6R) gene and rs7130588 (OR 1·09, p=1·8×10-8) on chromosome 11q13.5 near the leucine-rich repeat containing 32 gene (LRRC32, also known as GARP). The 11q13.5 locus was significantly associated with atopic status among asthmatics (OR 1·33, p=7×10-4), suggesting that it is a risk factor for allergic but not non-allergic asthma. Multi-marker association results are consistent with a highly polygenic contribution to asthma risk, including loci with weak effects that might be shared with other immune-related diseases, such as NDFIP1, HLA-B, LPP, and BACH2. The IL6R association further supports the hypothesis that cytokine signalling dysregulation affects asthma risk, and raises the possibility that an IL6R antagonist (tocilizumab) may be effective to treat the disease, perhaps in a genotype-dependent manner. Results for the 11q13.5 locus suggest that it directly increases the risk of allergic sensitisation which, in turn, increases the risk of subsequent development of asthma. Larger or more functionally focused studies are needed to characterise the many loci with modest effects that remain to be identified for asthma. National Health and Medical Research Council of Australia. A full list of funding sources is provided in the webappendix. © 2011 Elsevier Ltd.

Body composition and components of energy expenditure in children with end-stage liver disease

Background: Better understanding of body composition and energy metabolism in pediatric liver disease may provide a scientific basis for improved medical therapy aimed at achieving optimal nutrition, slowing progression to end-stage liver disease (ESLD), and improving the outcome of liver transplantation. Methods: Twenty-one children less than 2 years of age with ESLD awaiting liver transplantation and 15 healthy, aged-matched controls had body compartment analysis using a four compartment model (body cell mass, fat mass, extracellular water, and extracellular solids). Subjects also had measurements of resting energy expenditure (REE) and respiratory quotient (RQ) by indirect calorimetry. Nine patients and 15 control subjects also had measurements of total energy expenditure (TEE) using doubly labelled water. Results: Mean weights and heights were similar in the two groups. Compared with control subjects, children with ESLD had higher relative mean body cell mass (33 ± 2% vs 29 ± 1% of body weight, P < 0.05), but had similar fat mass, extracellular water, and extracellular solid compartments (18% vs 20%, 41% vs 38%, and 7% vs 13% of body weight respectively). Compared with control subjects, children with ESLD had 27% higher mean REE/body weight (0.285 ± 0.013 vs 0.218. ± 0.013 mJ/kg/24h, P < 0.001), 16% higher REE/unit cell mass (P < 0.05); and lower mean RQ (P < 0.05). Mean TEE of patients was 4.70 ± 0.49 mJ/24h vs 3.19 ± 0.76 in controls, (P < 0.01). Conclusions: In children, ESLD is a hypermetabolic state adversely affecting the relationship between metabolic and non-metabolic body compartments. There is increased metabolic activity within the body cell mass with excess lipid oxidation during fasting and at rest. These findings have implications for the design of appropriate nutritional therapy.

Malnutrition, gastroenteritis and trypsinogen concentration in hospitalised aboriginal children

Objective: To explore relationships between malnutrition and pancreatic damage in hospitalised aboriginal children. Methods: Immunoreactive trypsinogen (IRT) concentrations were measured in two populations of hospitalised aboriginal children in Australia; 472 children aged 0-3 years, in Alice Springs (Northern Territory); and 187 children aged 0-16 years in Mount Isa (Queensland). Correlation of whole blood IRT with height and weight z-scores, four-site skinfold thickness and upper arm circumference was sought. Results: In Mount Isa, the geometric mean IRT concentration rose with decreasing weight z-score. The IRT concentration was otherwise unrelated to nutritional indices. Sixty percent of the 39 Mount Isa patients with gastroenteritis and 24.5% of the 358 Alice Springs patients with gastroenteritis had an IRT concentration in the upper quartile for their population, compared with 16% for patients with other diagnoses in both populations. Conclusions: A high IRT concentration in patients with low weight z-scores is a confounding effect of gastroenteritis, and may result from subclinical pancreatic disease in gastroenteritis.

Stress-state permeability relationships for clays with coarse fraction

In standard laboratory consolidation tests, only the fraction of soil passing through a particular size of the sieve, called the matrix material, is used. This size is usually restricted to 1/10 of the height of the consolidation ring. Particles larger than this size that are removed before the test may consist of gravel, fragments of rock, or other coarse materials. Hence, it is not possible to estimate the compressibility and permeability of the total material based on the compressibility and permeability behavior obtained from laboratory consolidation tests on the matrix material. In the present investigation an attempt has been made to estimate the compressibility and permeability behavior of the total material based on the compressibility and permeability behavior of the matrix material. The results indicate that the presence of coarse particles will reduce the compressibility of the soil in proportion to the coarse fraction present in the whole soil and will not affect the permeability of the soil for the range investigated. If the coarse fraction exceeds the Limiting percentage, the void ratio-vertical effective stress path will also start to deviate from the predicted path. An expression has been developed to estimate approximately the deviating pressure, and it is found to depend on the soil type as well as the percent clay fraction.