979 resultados para Risk allele


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This paper presents findings from the rural and remote road safety study, conducted in Queensland, Australia, from March 2004 till June 2007, and compares fatal crashes and non-fatal but serious crashes in respect of their environmental, vehicle and operator factors. During the study period there were 613 non-fatal crashes resulting in 684 hospitalised casualties and 119 fatal crashes resulting in 130 fatalities. Additional information from police sources was available on 103 fatal and 309 non-fatal serious crashes. Over three quarters of both fatal and hospitalised casualties were male and the median age in both groups was 34 years. Fatal crashes were more likely to involve speed, alcohol and violations of road rules and fatal crash victims were 2 and a 1/2 times more likely to be unrestrained inside the vehicle than non-fatal casualties, consistent with current international evidence. After controlling for human factors, vehicle and road conditions made a minimal contribution to the seriousness of the crash outcome. Targeted interventions to prevent fatalities on rural and remote roads should focus on reducing speed and drink driving and promoting seatbelt wearing.

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Estimating potential health risks associated with recycled (reused) water is highly complex given the multiple factors affecting water quality. We take a conceptual model, which represents the factors and pathways by which recycled water may pose a risk of contracting gastroenteritis, convert the conceptual model to a Bayesian net, and quantify the model using one expert’s opinion. This allows us to make various predictions as to the risks posed under various scenarios. Bayesian nets provide an additional way of modeling the determinants of recycled water quality and elucidating their relative influence on a given disease outcome. The important contribution to Bayesian net methodology is that all model predictions, whether risk or relative risk estimates, are expressed as credible intervals.

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Modern statistical models and computational methods can now incorporate uncertainty of the parameters used in Quantitative Microbial Risk Assessments (QMRA). Many QMRAs use Monte Carlo methods, but work from fixed estimates for means, variances and other parameters. We illustrate the ease of estimating all parameters contemporaneously with the risk assessment, incorporating all the parameter uncertainty arising from the experiments from which these parameters are estimated. A Bayesian approach is adopted, using Markov Chain Monte Carlo Gibbs sampling (MCMC) via the freely available software, WinBUGS. The method and its ease of implementation are illustrated by a case study that involves incorporating three disparate datasets into an MCMC framework. The probabilities of infection when the uncertainty associated with parameter estimation is incorporated into a QMRA are shown to be considerably more variable over various dose ranges than the analogous probabilities obtained when constants from the literature are simply ‘plugged’ in as is done in most QMRAs. Neglecting these sources of uncertainty may lead to erroneous decisions for public health and risk management.

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Previous studies yielded evidence for dysbindin (DTNBP1) to impact the pathogenesis of schizophrenia on the one hand and affective disorders such as bipolar or major depressive disorder (MDD) on the other. Thus, in the present study we investigated whether DTNBP1 variation was associated with psychotic depression as a severe clinical manifestation of MDD possibly constituting an overlapping phenotype between affective disorders and schizophrenia. A sample of 243 Caucasian inpatients with MDD (SCID-I) was genotyped for 12 SNPs spanning 92% of the DTNBP1 gene region. Differences in DTNBP1 genotype distributions across diagnostic subgroups of psychotic (N = 131) vs. non-psychotic depression were estimated by Pearson Chi2 test and logistic regression analyses adjusted for age, gender, Beck Depression Inventory (BDI) and the Global Assessment of Functioning Scale (GAF). Overall, patients with psychotic depression presented with higher BDI and lower GAF scores expressing a higher severity of the illness as compared to depressed patients without psychotic features. Four DTNBP1 SNPs, particularly rs1997679 and rs9370822, and the corresponding haplotypes, respectively, were found to be significantly associated with the risk of psychotic depression in an allele-dose fashion. In summary, the present results provide preliminary support for dysbindin (DTNBP1) gene variation, particularly SNPs rs1997679 and rs9370822, to be associated with the clinical phenotype of psychotic depression suggesting a possible neurobiological mechanism for an intermediate trait on the continuum between affective disorders and schizophrenia.

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Catechol-O-methyl transferase (COMT) encodes an enzyme involved in the metabolism of dopamine and maps to a commonly deleted region that increases schizophrenia risk. A non-synonymous polymorphism (rs4680) in COMT has been previously found to be associated with schizophrenia and results in altered activity levels of COMT. Using a haplotype block-based gene-tagging approach we conducted an association study of seven COMT single nucleotide polymorphisms (SNPs) in 160 patients with a DSM-IV diagnosis of schizophrenia and 250 controls in an Australian population. Two polymorphisms including rs4680 and rs165774 were found to be significantly associated with schizophrenia. The rs4680 results in a Val/Met substitution but the strongest association was shown by the novel SNP, rs165774, which may still be functional even though it is located in intron five. Individuals with schizophrenia were more than twice as likely to carry the GG genotype compared to the AA genotype for both the rs165774 and rs4680 SNPs. This association was slightly improved when males were analysed separately possibly indicating a degree of sexual dimorphism. Our results confirm that COMT is a good candidate for schizophrenia risk, by replicating the association with rs4680 and identifying a novel SNP association.

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Dystrobrevin binding protein 1 (DTNBP1), or dysbindin, is thought to be critical in regulating the glutamatergic system. While the dopamine pathway is known to be important in the aetiology of schizophrenia, it seems likely that glutamatergic dysfunction can lead to the development of schizophrenia. DTNBP1 is widely expressed in brain, levels are reduced in brains of schizophrenia patients and a DTNBP1 polymorphism has been associated with reduced brain expression. Despite numerous genetic studies no DTNBP1 polymorphism has been strongly implicated in schizophrenia aetiology. Using a haplotype block-based gene-tagging approach we genotyped 13 SNPs in DTNBP1 to investigate possible associations with DTNBP1 and schizophrenia. Four polymorphisms were found to be significantly associated with schizophrenia. The strongest association was found with an A/C SNP in intron 7 (rs9370822). Homozygotes for the C allele of rs9370822 were more than two and a half times as likely to have schizophrenia compared to controls. The other polymorphisms showed much weaker association and are less likely to be biologically significant. These results suggest that DTNBP1 is a good candidate for schizophrenia risk and rs9370822 is either functionally important or in disequilibrium with a functional SNP, although our observations should be viewed with caution until they are independently replicated.

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In total, 782 Escherichia coli strains originating from various host sources have been analyzed in this study by using a highly discriminatory single-nucleotide polymorphism (SNP) approach. A set of eight SNPs, with a discrimination value (Simpson's index of diversity [D]) of 0.96, was determined using the Minimum SNPs software, based on sequences of housekeeping genes from the E. coli multilocus sequence typing (MLST) database. Allele-specific real-time PCR was used to screen 114 E. coli isolates from various fecal sources in Southeast Queensland (SEQ). The combined analysis of both the MLST database and SEQ E. coli isolates using eight high-D SNPs resolved the isolates into 74 SNP profiles. The data obtained suggest that SNP typing is a promising approach for the discrimination of host-specific groups and allows for the identification of human-specific E. coli in environmental samples. However, a more diverse E. coli collection is required to determine animal- and environment-specific E. coli SNP profiles due to the abundance of human E. coli strains (56%) in the MLST database.

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Participation in extreme sports is enjoying incredible growth while more traditional recreational activities such as golf are struggling to maintain numbers. Theoretical perspectives on extreme sports and extreme sport participants have assumed that participation is about risk-taking. However, these theory-driven methodologies may reflect judgments that do not necessarily relate to participants' lived experience. In this paper I review current risk-oriented perspectives on extreme sports and present research findings that question this assumed relationship between extreme sports and risk and thus reposition the experience in a hitherto unexplored manner. Risk taking is not the focus. Participants acknowledge that the potential outcome of a mismanaged mistake or accident could be death. However, accepting this potential outcome does not mean that they search for risk. Participants argue that many everyday life events (e.g., driving) are high-risk events. Participants undertake detailed preparation in order to minimise the possibility of negative outcomes because extreme sports trigger a range of positive experiential outcomes. The study is significant as it followed a hermeneutic phenomenological process which did not presuppose a risk-taking orientation. Hermeneutic phenomenology allows for a multitude of data sources including interviews (10 male and 5 female extreme sports participants, ages 30 to 72 years), auto-biographies, videos and other firsthand accounts. This process allowed this unexpected perspective to emerge more clearly.

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Road accidents are of great concerns for road and transport departments around world, which cause tremendous loss and dangers for public. Reducing accident rates and crash severity are imperative goals that governments, road and transport authorities, and researchers are aimed to achieve. In Australia, road crash trauma costs the nation A$ 15 billion annually. Five people are killed, and 550 are injured every day. Each fatality costs the taxpayer A$1.7 million. Serious injury cases can cost the taxpayer many times the cost of a fatality. Crashes are in general uncontrolled events and are dependent on a number of interrelated factors such as driver behaviour, traffic conditions, travel speed, road geometry and condition, and vehicle characteristics (e.g. tyre type pressure and condition, and suspension type and condition). Skid resistance is considered one of the most important surface characteristics as it has a direct impact on traffic safety. Attempts have been made worldwide to study the relationship between skid resistance and road crashes. Most of these studies used the statistical regression and correlation methods in analysing the relationships between skid resistance and road crashes. The outcomes from these studies provided mix results and not conclusive. The objective of this paper is to present a probability-based method of an ongoing study in identifying the relationship between skid resistance and road crashes. Historical skid resistance and crash data of a road network located in the tropical east coast of Queensland were analysed using the probability-based method. Analysis methodology and results of the relationships between skid resistance, road characteristics and crashes are presented.

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Background: Waist circumference has been identified as a valuable predictor of cardiovascular risk in children. The development of waist circumference percentiles and cut-offs for various ethnic groups are necessary because of differences in body composition. The purpose of this study was to develop waist circumference percentiles for Chinese children and to explore optimal waist circumference cut-off values for predicting cardiovascular risk factors clustering in this population.----- ----- Methods: Height, weight, and waist circumference were measured in 5529 children (2830 boys and 2699 girls) aged 6-12 years randomly selected from southern and northern China. Blood pressure, fasting triglycerides, low-density lipoprotein cholesterol, high-density lipoprotein cholesterol, and glucose were obtained in a subsample (n = 1845). Smoothed percentile curves were produced using the LMS method. Receiver-operating characteristic analysis was used to derive the optimal age- and gender-specific waist circumference thresholds for predicting the clustering of cardiovascular risk factors.----- ----- Results: Gender-specific waist circumference percentiles were constructed. The waist circumference thresholds were at the 90th and 84th percentiles for Chinese boys and girls respectively, with sensitivity and specificity ranging from 67% to 83%. The odds ratio of a clustering of cardiovascular risk factors among boys and girls with a higher value than cut-off points was 10.349 (95% confidence interval 4.466 to 23.979) and 8.084 (95% confidence interval 3.147 to 20.767) compared with their counterparts.----- ----- Conclusions: Percentile curves for waist circumference of Chinese children are provided. The cut-off point for waist circumference to predict cardiovascular risk factors clustering is at the 90th and 84th percentiles for Chinese boys and girls, respectively.

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Adolescents engage in many risk-taking behaviors that have the potential to lead to injury. The school environment has a significant role in shaping adolescent behavior, and this study aimed to provide additional information about the benefits associated with connectedness to school. Early adolescents aged 13 to 15 years (N = 509, 49% boys) were surveyed about school connectedness, engagement in transport and violence risk-taking, and injury experiences. Significant relations were found between school connectedness and reduced engagement in both transport and violence risk-taking, as well as fewer associated injuries. This study has implications for the area of risk-taking and injury prevention, as it suggests the potential for reducing adolescents' injury through school based interventions targeting school connectedness.

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This paper presents an automated image‐based safety assessment method for earthmoving and surface mining activities. The literature review revealed the possible causes of accidents on earthmoving operations, investigated the spatial risk factors of these types of accident, and identified spatial data needs for automated safety assessment based on current safety regulations. Image‐based data collection devices and algorithms for safety assessment were then evaluated. Analysis methods and rules for monitoring safety violations were also discussed. The experimental results showed that the safety assessment method collected spatial data using stereo vision cameras, applied object identification and tracking algorithms, and finally utilized identified and tracked object information for safety decision making.

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This paper proposes a novel approach for identifying risks in executable business processes and detecting them at run time. The approach considers risks in all phases of the business process management lifecycle, and is realized via a distributed, sensor-based architecture. At design-time, sensors are defined to specify risk conditions which when fulfilled, are a likely indicator of faults to occur. Both historical and current execution data can be used to compose such conditions. At run-time, each sensor independently notifies a sensor manager when a risk is detected. In turn, the sensor manager interacts with the monitoring component of a process automation suite to prompt the results to the user who may take remedial actions. The proposed architecture has been implemented in the YAWL system and its performance has been evaluated in practice.

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Almost 10% of all births are preterm and 2.2% are stillbirths globally. Recent research has suggested that environmental factors may be a contributory cause to these adverse birth outcomes. The authors examined the relationship between ambient temperature and preterm birth and stillbirth in Brisbane, Australia between 2005 and 2009 (n = 101,870). They used a Cox proportional hazard model with live birth and stillbirth as competing risks. They also examined if there were periods of the pregnancy where exposure to high temperatures had a greater effect. Exposure to higher ambient temperatures during pregnancy increased the risk of stillbirth. The hazard ratio for stillbirth was 0.3 at 12 °C relative to the reference temperature at 21 °C. The temperature effect was greatest for fetuses of less than 36 weeks of gestation. There was an association between higher temperature and shorter gestation, as the hazard ratio for live birth was 0.96 at 15 °C and 1.02 at 25 °C. This effect was greatest at later gestational ages. The results provide strong evidence of an association between increased temperature and increased risk of stillbirth and shorter gestations.