Utilising family-based designs for detecting rare variant disease associations.

Rare genetic variants are thought to be important components in the causality of many diseases but discovering these associations is challenging. We demonstrate how best to use family-based designs to improve the power to detect rare variant disease associations. We show that using genetic data from enriched families (those pedigrees with greater than one affected member) increases the power and sensitivity of existing case-control rare variant tests. However, we show that transmission- (or within-family-) based tests do not benefit from this enrichment. This means that, in studies where a limited amount of genotyping is available, choosing a single case from each of many pedigrees has greater power than selecting multiple cases from fewer pedigrees. Finally, we show how a pseudo-case-control design allows a greater range of statistical tests to be applied to family data

Associations between diurnal preference, sleep quality and externalizing behaviours: a behavioural genetic analysis

Background - Certain aspects of sleep co-occur with externalizing behaviours in youth, yet little is known about these associations in adults. The present study: (1) examines the associations between diurnal preference (morningness versus eveningness), sleep quality and externalizing behaviours; (2) explores the extent to which genetic and environmental influences are shared between or are unique to these phenotypes; (3) examines the extent to which genetic and environmental influences account for these associations. Method - Questionnaires assessing diurnal preference, sleep quality and externalizing behaviours were completed by 1556 young adult twins and siblings. Results - A preference for eveningness and poor sleep quality were associated with greater externalizing symptoms [r=0.28 (95% CI 0.23–0.33) and 0.34 (95% CI 0.28–0.39), respectively]. A total of 18% of the genetic influences on externalizing behaviours were shared with diurnal preference and sleep quality and an additional 14% were shared with sleep quality alone. Non-shared environmental influences common to the phenotypes were small (2%). The association between diurnal preference and externalizing behaviours was mostly explained by genetic influences [additive genetic influence (A)=80% (95% CI 0.56–1.01)], as was the association between sleep quality and externalizing behaviours [A=81% (95% CI 0.62–0.99)]. Non-shared environmental (E) influences accounted for the remaining variance for both associations [E=20% (95% CI −0.01 to 0.44) and 19% (95% CI 0.01–0.38), respectively]. Conclusions - A preference for eveningness and poor sleep quality are moderately associated with externalizing behaviours in young adults. There is a moderate amount of shared genetic influences between the phenotypes and genetic influences account for a large proportion of the association between sleep and externalizing behaviours. Further research could focus on identifying specific genetic polymorphisms common to both sleep and externalizing behaviours

An interface design for a shock-tube system

A linear display of lights and a mimic diagram arrangement of switches are suggested for the proposed high pressure shock tube control panel to enable the operator to follow a safe and reliable operating procedure

Structured evaluation of virtual environments for special-needs education

This paper describes the development of a structured approach to evaluate experiential and communication virtual learning environments (VLEs) designed specifically for use in the education of children with severe learning difficulties at the Shepherd special needs school in Nottingham, UK. Constructivist learning theory was used as a basis for the production of an evaluation framework, used to evaluate the design of three VLEs and how they were used by students with respect to this learning theory. From an observational field study of student-teacher pairs using the VLEs, 18 behaviour categories were identified as relevant to five of the seven constructivist principles defined by Jonassen (1994). Analysis of student-teacher behaviour was used to provide support for, or against, the constructivist principles. The results show that the three VLEs meet the constructivist principles in very different ways and recommendations for design modifications are put forward

Balancing employee needs, project requirements and organisational priorities in team deployment

The 'people and performance' model asserts that performance is a sum of employee ability, motivation and opportunity (AMO). Despite extensive evidence of this people-performance link within manufacturing and many service sectors, studies within the construction industry are limited. Thus, a recent research project set out to explore the team deployment strategies of a large construction company with the view of establishing how a balance could be achieved between organisational strategic priorities, operational project requirements and individual employee needs and preferences. The findings suggested that project priorities often took precedence over the delivery of the strategic intentions of the organisation in meeting employees' individual needs. This approach is not sustainable in the long term because of the negative implications that such a policy had in relation to employee stress and staff turnover. It is suggested that a resourcing structure that takes into account the multiple facets of AMO may provide a more effective approach for balancing organisational strategic priorities, operational project requirements and individual employee needs and preferences more appropriately in the future

Constraining a Historical Black Carbon Emission Inventory of the United States for 1960–2000

We present an observationally constrained United States black carbon emission inventory with explicit representation of activity and technology between 1960 and 2000. We compare measured coefficient of haze data in California and New Jersey between 1965 and 2000 with predicted concentration trends and attribute discrepancies between observations and predicted concentrations among several sources based on seasonal and weekly patterns in observations. Emission factors for sources with distinct fuel trends are then estimated by comparing fuel and concentration trends and further substantiated by in‐depth examination of emission measurements. We recommend (1) increasing emission factors for preregulation vehicles by 80–250%; (2) increasing emission factors for residential heating stoves and boilers by 70% to 200% for 1980s and before; (3) explicitly representing naturally aspired off‐road engines for 1980s and before; and (4) explicitly representing certified wood stoves after 1985. We also evaluate other possible sources for discrepancy between model and measurement, including bias in modeled meteorology, subgrid spatial heterogeneity of concentrations, and inconsistencies in reported fuel consumption. The updated U.S. emissions are higher than the a priori estimate by 80% between 1960 and 1980, totaling 690 Gg/year in 1960 and 620 Gg/year in 1970 (excluding open burning). The revised inventory shows a strongly decreasing trend that was present in the observations but missing in the a priori inventory.Key PointsSystematic evaluation of long‐term U.S. black carbon observations identifies a small number of poorly estimated emission sourcesUpdated black carbon emission is higher than the previous estimate by 80% for 1960–1980, showing a decreasing trend as found in observationEmission factors for preregulation vehicles, off‐road engines, and residential heating stoves in 1980 and before should be increasedPeer Reviewedhttps://deepblue.lib.umich.edu/bitstream/2027.42/149266/1/jgrd55339_am.pdfhttps://deepblue.lib.umich.edu/bitstream/2027.42/149266/2/jgrd55339.pd

An evidence based clinical aid for cardiovascular disease

Copyright to Australian Family Physician. Reproduced with permission. Permission to reproduce must be sought from the publisher, The Royal Australian College of General Practitioners.Cardiovascular disease is the commonest cause of mortality in Australia, accounting for more than 30% of deaths. Hypertension, diabetes and lipid disorders account for 15.6% of the total problems encountered in general practice. Therefore all doctors should be familiar with well known risk factors for cardiovascular disease, as well as the benefits of interventions with them.Brian R McAvoy; Greg R Fulcher; John V Amerena; Greg W Conner; John F Beltrame; Graeme J Hankey; Anthony C Keech; Brian L Lloyd; Michael L Neale; Carol A Pollock; Krishna Sudhir; Robert D Waltham; Malcolm J Wes

Understanding employee resourcing in construction organizations

In recent years the literature on employee resourcing has consistently advocated the importance of adopting a holistic, strategic approach to employee deployment decision making rather than adopting a reactive needs-based approach. This is particularly problematic in construction where the multi-project environment leads to constantly changing resource requirements and to changing demands over a project's life cycle. This can lead to inappropriate decisions, which fail to meet the longer-term needs of both construction organizations and their employees. A structured and comprehensive understanding of the current project team deployment practices within large construction organizations was developed. Project deployment practices were examined within seven case study contracting firms. The emergent themes that shaped the decision-making processes were grouped into five broad clusters comprising human resource planning, performance/career management, team deployment, employee involvement and training and development. The research confirms that a reactive and ad hoc approach to the function prevails within the firms investigated. This suggests a weak relationship between the deployment process and human resource planning, team deployment, performance management, employee involvement and training and development activities. It is suggested that strategic HR-business partnering could engender more transparent and productive relationships in this crucial area