Bovine colostrum modulates cytokine production in human peripheral blood mononuclear cells stimulated with lipopolysaccharide and phytohemagglutinin

Bovine colostrum has been shown to influence the cytokine production of bovine leukocytes. However, it remains unknown whether processed bovine colostrum, a supplement popular among athletes to enhance immune function, is able to modulate cytokine secretion of human lymphocytes and monocytes. The aim of this investigation was to determine the influence of a commercially available bovine colostrum protein concentrate (CPC) to stimulate cytokine production by human peripheral blood mononuclear cells (PBMCs). Blood was sampled from four healthy male endurance athletes who had abstained from exercise for 48 h. PBMCs were separated and cultured with bovine CPC concentrations of 0 (control), 1.25, 2.5, and 5% with and without lipopolysaccharide (LPS) (3 microg/mL) and phytohemagglutinin (PHA) (2.5 microg/mL). Cell supernatants were collected at 6 and 24 h of culture for the determination of tumor necrosis factor (TNF), interferon (IFN)-gamma, interleukin (IL)-10, IL-6, IL-4, and IL-2 concentrations. Bovine CPC significantly stimulated the release of IFN-gamma, IL-10, and IL-2 (p < 0.03). The addition of LPS to PBMCs cocultured with bovine CPC significantly stimulated the release of IL-2 and inhibited the early release of TNF, IL-6, and IL-4 (p < 0.02). Phytohemagglutinin stimulation in combination with bovine CPC significantly increased the secretion of IL-10 and IL-2 at 6 h of culture and inhibited IFN-gamma and TNF (p < 0.05). This data show that a commercial bovine CPC is able to modulate in vitro cytokine production of human PBMCs. Alterations in cytokine secretion may be a potential mechanism for reported benefits associated with supplementation.

Birds : indicators of environmental repair in oil affected coastlines

Bird coastal communities were studied along Bribie Island and Moreton Island, two islands within Moreton Bay, Brisbane, Queensland, Australia, using the point counts method. A total of 128 five-hundred metre radius area surveys and 81 beach drive surveys were conducted and observations made over four seasons. Bird species were identified, counted and recorded. The data was compared between the two islands and, between sites on each island as oil-spill affected sites to non-oil spill affected sites. Species such as waders, shorebirds, terns/gulls and raptors were identified as species at most risk from an oil spill and the data was selected to look mainly at these species. The data indicated that sites affected by the oil spill contained 50% less oil-affected species than sites not affected by the oil spill. Bribie Island held on average 5 species per site in the oil affected sites compared to 12 species in non-oil affected sites. This same trend was observed on Moreton Island which held 6 species compared to 14 species. Bird data will continue to be counted over several years to determine whether the observed data is a true reflection of the affects of an oil spill on the habitat of shorebirds.

Understanding the impact of legislative changes on child car seating and restraint practices in regional Queensland

Road crashes contribute to a significant amount of child mortality and morbidity in Australia. In fact, passenger injuries contribute to the majority of child crash road trauma. A number of factors contribute to child injury and death in motor vehicles, including inappropriate seating position, inappropriate choice of restraint, and incorrect installation and use of child restraints. Prior to March 2010, child restraint legislation in Queensland only required children twelve months and younger to be seated in a properly adjusted and fastened child restraint. This legislation left older infants and young children potentially suboptimally protected. From March 2010, new legislation specified seating position and type of child restraint required, depending on the age of the child. This research was underpinned by the Health Belief Model (HBM), which explores health related behaviour, behaviour change, environmental factors influencing behaviour change (including legislative changes) and is flexible enough to be used in relation to parents' health practices for their children, rather than parent health directly. This thesis investigates the extent to which the changes to child restraint legislation have led parents in regional areas of Queensland to use appropriate restraint practices for their children and determines the extent to which the constructs of the HBM, parental perceptions, barriers and environmental factors contribute to the appropriateness of child seating and restraint use. Study One included three sets of observations taken in two regional cities of Queensland prior to the legislative amendment, during an educative period of six months, and after the enactment of the legislation. Each child's seating position and restraint type were recorded. Results showed that the proportion of children observed occupying the front seat decreased by 15.6 per cent with the announcement the legislation. There was no decrease in front seat use at the enactment of the legislation. The proportion of children observed using dedicated child restraints increased by 8.8 per cent with the announcement of the legislation when there was one child in the vehicle. Further, there was a 10.1 per cent increase in the proportion of children observed using a seat belt that fit with the announcement when there was one child in the vehicle and with the enactment of the legislation regardless of the number of children in the vehicle (21.8 per cent for one child, 39.7 per cent for two children and 40.2 per cent for three or more children). Study Two comprised initial intercept interviews, later followed up by telephone, with parents with children aged eight years and younger at the announcement and telephone interviews at the enactment of the legislation in one regional city in Queensland. Parents reported their child restraint practices, and opinions, knowledge and understanding of the requirements of the new legislation. Parent responses were analysed in terms of the constructs in the HBM. When asked which seating position their child 'usually' used, parents reported child front seat use was nil (0.0 per cent) and did not change with the enactment of the legislative amendment. However, when parents were asked whether they allowed children to use the front seat at some point within the six months prior to the interview, reported child front seat use was 7 (5.4 per cent) children at T2 and 10 (9.6 per cent) at T3. Reported use of age-appropriate child restraints did not increase with the enactment of the legislation (p = 0.77, ns). Parents reported restraint practices were classed as either appropriate or inappropriate. Parents who reported appropriate restraint practices were those whose children were sitting in optimal restraints and seating positions for their age according to the requirements of the legislation. Parents who reported inappropriate restraint practices were those who had one or more children who were suboptimally restrained or seated for their age according to the requirements of the legislation. Neither parents' perceptions about their susceptibility of being in a crash nor the likelihood of severity of child injury if involved in a crash yielded significant differences in the appropriateness of reported parent restraint practices over time with the enactment of the legislation. A trend in the data suggested parents perceived a benefit to using appropriate restraint practices was to avoid fines and demerit points. Over 75 per cent of parents who agreed that child restraints provide better protection for children than an adult seat belt reported appropriately seating and restraining their children (2 (1) = 8.093, p<.05). The self-efficacy measure regarding parents' confidence in installing a child restraint showed a significant association with appropriate parental restraint practices (2 (1) = 7.036, p<.05). Results suggested that some parents may have misinterpreted the announcement of the legislative amendment as the announcement of the enforcement of the legislation instead. Some parents who correctly reported details of the legislation did not report appropriate child restraint practices. This finding shows that parents' knowledge of the legislative amendment does not necessarily have an impact on their behaviour to appropriately seat and restrain children. The results of these studies have important implications for road safety and the prevention of road-related injury and death to children in Queensland. Firstly, parents reported feeling unsure of how to install restraints, which suggests that there may be children travelling in restraints that have not been installed correctly, putting them at risk. Interventions to alert and encourage parents to seek advice when unsure about the correct installation of child restraints could be considered. Secondly, some parents in this study although they were using the most appropriate restraint for their children, reported using a type that was not the most appropriate restraint for the child's age according to the legislation. This suggests that intervention may be effective in helping parents make a more accurate choice of the most appropriate type of restraint to use with children, especially as the child ages and child restraint requirements change. Further research could be conducted to ascertain the most effective methods of informing and motivating parents to use the most appropriate restraints and seating positions for their children, as these results show a concerning disparity between reported restraint practices and those that were observed.

Random breath testing in Queensland and Western Australia : Examination of how the random breath testing rate influences alcohol related traffic crash rates

In this paper we explore the relationship between monthly random breath testing (RBT) rates (per 1000 licensed drivers) and alcohol-related traffic crash (ARTC) rates over time, across two Australian states: Queensland and Western Australia. We analyse the RBT, ARTC and licensed driver rates across 12 years; however, due to administrative restrictions, we model ARTC rates against RBT rates for the period July 2004 to June 2009. The Queensland data reveals that the monthly ARTC rate is almost flat over the five year period. Based on the results of the analysis, an average of 5.5 ARTCs per 100,000 licensed drivers are observed across the study period. For the same period, the monthly rate of RBTs per 1000 licensed drivers is observed to be decreasing across the study with the results of the analysis revealing no significant variations in the data. The comparison between Western Australia and Queensland shows that Queensland's ARTC monthly percent change (MPC) is 0.014 compared to the MPC of 0.47 for Western Australia. While Queensland maintains a relatively flat ARTC rate, the ARTC rate in Western Australia is increasing. Our analysis reveals an inverse relationship between ARTC RBT rates, that for every 10% increase in the percentage of RBTs to licensed driver there is a 0.15 decrease in the rate of ARTCs per 100,000 licenced drivers. Moreover, in Western Australia, if the 2011 ratio of 1:2 (RBTs to annual number of licensed drivers) were to double to a ratio of 1:1, we estimate the number of monthly ARTCs would reduce by approximately 15. Based on these findings we believe that as the number of RBTs conducted increases the number of drivers willing to risk being detected for drinking driving decreases, because the perceived risk of being detected is considered greater. This is turn results in the number of ARTCs diminishing. The results of this study provide an important evidence base for policy decisions for RBT operations.

The adaptive metabolic response to exercise-induced weight loss influences both energy expenditure and energy intake

BACKGROUND/OBJECTIVEs A decline in resting energy expenditure (REE) beyond that predicted from changes in body composition has been noted following dietary-induced weight loss. However, it is unknown whether a compensatory downregulation in REE also accompanies exercise (EX)-induced weight loss, or whether this adaptive metabolic response influences energy intake (EI). SUBJECTS/METHODS Thirty overweight and obese women (body mass index (BMI)=30.6±3.6 kg/m2) completed 12 weeks of supervised aerobic EX. Body composition, metabolism, EI and metabolic-related hormones were measured at baseline, week 6 and post intervention. The metabolic adaptation (MA), that is, difference between predicted and measured REE was also calculated post intervention (MApost), with REE predicted using a regression equation generated in an independent sample of 66 overweight and obese women (BMI=31.0±3.9 kg/m2). RESULTS Although mean predicted and measured REE did not differ post intervention, 43% of participants experienced a greater-than-expected decline in REE (−102.9±77.5 kcal per day). MApost was associated with the change in leptin (r=0.47; P=0.04), and the change in resting fat (r=0.52; P=0.01) and carbohydrate oxidation (r=−0.44; P=0.02). Furthermore, MApost was also associated with the change in EI following EX (r=−0.44; P=0.01). CONCLUSIONS Marked variability existed in the adaptive metabolic response to EX. Importantly, those who experienced a downregulation in REE also experienced an upregulation in EI, indicating that the adaptive metabolic response to EX influences both physiological and behavioural components of energy balance.

Statistical modelling of district-level residential electricity use in NSW, Australia

Electricity network investment and asset management require accurate estimation of future demand in energy consumption within specified service areas. For this purpose, simple models are typically developed to predict future trends in electricity consumption using various methods and assumptions. This paper presents a statistical model to predict electricity consumption in the residential sector at the Census Collection District (CCD) level over the state of New South Wales, Australia, based on spatial building and household characteristics. Residential household demographic and building data from the Australian Bureau of Statistics (ABS) and actual electricity consumption data from electricity companies are merged for 74 % of the 12,000 CCDs in the state. Eighty percent of the merged dataset is randomly set aside to establish the model using regression analysis, and the remaining 20 % is used to independently test the accuracy of model prediction against actual consumption. In 90 % of the cases, the predicted consumption is shown to be within 5 kWh per dwelling per day from actual values, with an overall state accuracy of -1.15 %. Given a future scenario with a shift in climate zone and a growth in population, the model is used to identify the geographical or service areas that are most likely to have increased electricity consumption. Such geographical representation can be of great benefit when assessing alternatives to the centralised generation of energy; having such a model gives a quantifiable method to selecting the 'most' appropriate system when a review or upgrade of the network infrastructure is required.

A preliminary study into the environmental and economic consequences of a sugar factory depithing operation

Bagasse stockpile operations have the potential to lead to adverse environmental and social impacts. Dust releases can cause occupational health and safety concerns for factory workers and dust emissions impact on the surrounding community. Preliminary modelling showed that bagasse depithing would likely reduce the environmental risks, particularly dust emissions, associated with large-scale bagasse stockpiling operations. Dust emission properties were measured and used for dispersion modelling with favourable outcomes. Modelling showed a 70% reduction in peak ground level concentrations of PM10 dust (particles with an aerodynamic diameter less than 10 μm) from operations on depithed bagasse stockpiles compared to similar operations on stockpiles of whole bagasse. However, the costs of a depithing operation at a sugar factory were estimated to be approximately $2.1 million in capital expenditure to process 100 000 t/y of bagasse and operating costs were 200 000 p.a. The total capital cost for a 10 000 t/y operation was approximately $1.6 million. The cost of depithing based on a discounted cash flow analysis was $5.50 per tonne of bagasse for the 100 000 t/y scenario. This may make depithing prohibitively expensive in many situations if installed exclusively as a dust control measure.

The penetrance and characteristics of contact lens wear in Australia

Background A population-based, cross-sectional telephone survey was conducted to estimate the penetrance and characteristics of contact lens wear in Australia. Methods Based on postcode distribution, 42,749 households around Australia were randomly selected from the national electronic telephone directory. During calls, the number of individuals and contact lens wearers in each household aged between 15 and 64 years was ascertained. Contact lens wearers were interviewed using a structured questionnaire, to determine details of demographics, lens type, mode of lens wear and hygienic habits. Contact lens wear characteristics and habits were compared by lens type and mode of use. Results Of the 32,405 households contacted, 19,171 (59.2 per cent) agreed to participate. The penetrance of contact lens wear during the study period was 5.01 per cent (95% CI: 4.78-5.24). The mean age of lens wearers was 36.5 ± 18.3 years and 63.4 per cent were female. There were significant differences in the habits and characteristics of lens wearers depending on their lens type and mode of use. Conclusions The penetrance of contact lens wear concurs with market estimates and equates to approximately 680,000 contact lens wearers aged between 15 and 64 years in Australia. This is the most detailed and extensive population-based survey of contact lens wearers ever conducted. The discrepancies found between the characteristics of lens wearers surveyed in this study compared to those in previous studies of contact lens practitioners highlights the importance of study design. These results may be applied to other regions with similar health-care and regulatory systems.

Evidence based physical activity for school-age youth

Objectives To review the effects of physical activity on health and behavior outcomes and develop evidence-based recommendations for physical activity in youth. Study design A systematic literature review identified 850 articles; additional papers were identified by the expert panelists. Articles in the identified outcome areas were reviewed, evaluated and summarized by an expert panelist. The strength of the evidence, conclusions, key issues, and gaps in the evidence were abstracted in a standardized format and presented and discussed by panelists and organizational representatives. Results Most intervention studies used supervised programs of moderate to vigorous physical activity of 30 to 45 minutes duration 3 to 5 days per week. The panel believed that a greater amount of physical activity would be necessary to achieve similar beneficial effects on health and behavioral outcomes in ordinary daily circumstances (typically intermittent and unsupervised activity). Conclusion School-age youth should participate daily in 60 minutes or more of moderate to vigorous physical activity that is developmentally appropriate, enjoyable, and involves a variety of activities.

Dalby Shopping Precinct Survey Report : Consumer Attitudes towards Proposed Extended Trading Hours at Dalby

Data was collected to measure shopper’s attitudes toward the proposed Sunday and limited public holiday trading in Dalby. Survey questionnaires were conducted between 29th August to 31st August at Coles Dalby and Dalby Shoppingtown Plaza. In total, 150 respondents participated in the survey. Overall, the findings suggest that most respondents, especially males, couples with children, fulltime workers and those under the age of 49 years, embrace the proposed Sunday and limited holiday trading in Dalby. While there are concerns over increasing competition for smaller retailers who already trade on Sundays, a majority of respondents indicated it would suit their lifestyle, be convenient, provide more jobs, increase trade for smaller retailers within the area, reduce queues and congestion observed on Saturdays. The majority of those shoppers that indicated they currently did some shopping on a Sunday reported they would continue to support smaller retailers who currently trade on Sundays and some public holidays, if changes came about. Those opposed to changes to trading hours indicated a belief that existing trading hours were sufficient. Most people indicated the proposed extension of trading hours would not harm the community or have a negative, detrimental effect on themselves or their family. The main findings presented in the report are as follows: - 96.8% of respondents surveyed reported to be local, permanent residents of Dalby. - Residents of Dalby visited shopping centres and stores on average 2.8 times per week. This frequency is proportionately higher than the average Australian shopping behaviour at 2.5 times per week (Roy Morgan Supermarket Monitor). - It was determined that weekday evenings (after 5 pm) were the busiest times for shopping, with Saturday the next most popular day to shop. - 68% of respondents support the proposal of the extended trading hours at supermarkets, department stores and the shopping centre in Dalby, 26% oppose and 6% are unsure. - 90% of the respondents agreed that residents of Dalby should be allowed the same choice as other regional towns and cities in supporting/opposing changes to trading hours. The remaining 10% expressed a disagreement. - A larger percentage of males supported the proposal for Sunday and limited holiday trading. Of all the males surveyed, 80% were in support, 15% were opposed and 5% unsure. 60% of female respondents support the proposal, while 33% oppose it and 5% were unsure. - The highest percentage of support exists in fulltime workers with 90% of those respondents supporting the proposal. - In contrast, the lowest percentage of support was found in the non-working (retired/unemployed) respondents, where 67% opposed the application. - It was noted that 71% of respondents employed casually also indicated opposition against proposed changes. Further questioning identified an underlying concern from casually employed persons that Sunday trade would force them onto Sunday work rosters. - 92% of shared households expressed support for Sunday and limited public holiday trading, while 83% of both couples with children and single parent with children at home also supported the application. - 72% of the respondents often find it necessary to do some grocery shopping in Dalby on a Sunday. 76% of shoppers who indicated they already undertook some shopping on Sunday, indicated would continue to shop and support smaller retailers. - Of the respondents surveyed, 44% have travelled outside of Dalby on a Sunday to shop. This indicates that such residents find it necessary to undertake some shopping on a Sunday and in order to do so, drive an hour to Toowoomba in order to access a range of retailers. - The most cited reasons for supporting Sunday and limited public holiday trade were; ‘More choice about when I shop and that is convenient’ (69%), ‘Sunday trade will create job opportunities’ (71%), ‘Sunday trade will be helpful when preparing school lunches and getting ready for the working week’ (62%), and ‘Sunday trade will reduce shopping congestion during peak shopping periods’ (62%) - The most cited reasons for opposing the proposed changes are that ‘Sunday trade may increase competition for small retailers who already trade on Sunday’ (41%), ‘Shops are already open 6 days a week which is enough’ (31%), and ‘Sunday is a day of rest or a religious day and shopping should not be allowed’ (23%). - 97% of respondents indicated they would not change their sporting or social commitment if changes to trading hours were implemented.

Mt Isa Shopping Precinct Survey Report : Consumer Attitudes towards Proposed Extended Trading Hours at Mt Isa

Data was collected to measure shopper’s attitudes toward the proposed Sunday and limited public holiday trading in Mt Isa. Survey questionnaires were conducted between 15th August to 17th August at Kmart Plaza, Woolworths, Miles St. and Mt Isa Plaza. In total, 300 respondents participated in the survey. Overall, the findings suggest that most respondents, especially males, couples with children and fulltime workers, embrace the proposed Sunday and limited holiday trading in Mt Isa. While there are concerns over increasing competition for smaller retailers who already trade on Sundays, a majority of respondents indicated it would suit their lifestyle, be convenient, provide more jobs, increase trade for smaller retailers within the area, reduce queues and congestion, and offer a less expensive grocery shopping. The majority of those shoppers that indicated they currently did some shopping on a Sunday reported they would continue to support smaller retailers who currently trade on Sundays and some public holidays, if changes came about. Those opposed to changes to trading hours also indicated a belief that existing trading hours were sufficient. Most people indicated the proposed extension of trading hours would not harm the community or have a negative, detrimental effect on themselves or their family. The main findings presented in the report are as follows: - 96% of respondents surveyed reported to be local, permanent residents of Mt Isa. - Residents of Mt Isa visited shopping centres and stores on average 2.4 times per week. This mirrors the average Australian shopping behaviour at 2.5 times per week (Roy Morgan Supermarket Monitor) - It was determined that Saturday was the busiest day for shopping with a majority of respondents indicating they visited stores on that day of the week. - 71% of respondents support the proposal of extended trading hours at shopping centres in Mt Isa, 25% oppose and 4% are unsure. - 87% of the respondents agreed that residents of Mt Isa should be allowed the same choice as other regional towns and cities in supporting/opposing changes to trading hours. The remaining 13% expressed a disagreement. - A larger percentage of males supported the proposal for Sunday and limited holiday trading. Of all the males surveyed, 81% were in support, 17% were opposed and 2% unsure. By contrast, 64% of female respondents support the proposal, while 31% oppose it and 5% are unsure. - The highest percentage of support exists in fulltime workers with 85% of those respondents supporting the proposal. In contrast, the lowest percentage of support was found in the non-working respondents, where 62% opposed the application. - 78% of couples living with children at home expressed support for Sunday and limited public holiday trading, while 60% of couples without children also supported the application. - Of the respondents surveyed, virtually none (less than 1%) have travelled outside of Mt Isa on a Sunday to shop. This indicates that due to the remote and isolated location of this town, residents do not have the option to travel reasonable distances in order to access a range of retailers. - 70% of the respondents often find it necessary to do some grocery shopping in Mt Isa on a Sunday. - Convenience is cited as the major reason for support (79%) followed by lifestyle (75%). - The most cited reasons for supporting ‘it would be convenient’ (81%), ‘It may create more jobs’ (77%), ‘It may reduce congestion during busy shopping periods’ (74%, and ‘It would make it easier for working families with kids’ (74%). - The most cited reasons for opposing the proposed changes are that ‘It will disadvantage smaller businesses’ (44%), ‘It is unnecessary’ (29%). - 72% of shoppers who indicated they already undertook some shopping on Sunday, indicated would continue to shop and support smaller retailers. - 98% of respondents indicated they would not change their sporting or social commitment if changes to trading hours were implemented.

Increasing functional variability in the preparatory phase of the takeoff improves elite springboard diving performance

PURPOSE: Previous research demonstrating that specific performance outcome goals can be achieved in different ways is functionally significant for springboard divers whose performance environment can vary extensively. This body of work raises questions about the traditional approach of balking (terminating the takeoff) by elite divers aiming to perform only identical, invariant movement patterns during practice. METHOD: A 12-week training program (2 times per day; 6.5 hr per day) was implemented with 4 elite female springboard divers to encourage them to adapt movement patterns under variable takeoff conditions and complete intended dives, rather than balk. RESULTS: Intraindividual analyses revealed small increases in variability in the board-work component of each diver's pretraining and posttraining program reverse-dive takeoffs. No topological differences were observed between movement patterns of dives completed pretraining and posttraining. Differences were noted in the amount of movement variability under different training conditions (evidenced by higher normalized root mean square error indexes posttraining). An increase in the number of completed dives (from 78.91%-86.84% to 95.59%-99.29%) and a decrease in the frequency of balked takeoffs (from 13.16%-19.41% to 0.63%-4.41%) showed that the elite athletes were able to adapt their behaviors during the training program. These findings coincided with greater consistency in the divers' performance during practice as scored by qualified judges. CONCLUSION: Results suggested that on completion of training, athletes were capable of successfully adapting their movement patterns under more varied takeoff conditions to achieve greater consistency and stability of performance outcomes.

Costing the Australian National Hand Hygiene Initiative

Background The Australian National Hand Hygiene Initiative (NHHI) is a major patient safety programme co-ordinated by Hand Hygiene Australia (HHA) and funded by the Australian Commission for Safety and Quality in Health Care. The annual costs of running this programme need to be understood to know the cost-effectiveness of a decision to sustain it as part of health services. Aim To estimate the annual health services cost of running the NHHI; the set-up costs are excluded. Methods A health services perspective was adopted for the costing and collected data from the 50 largest public hospitals in Australia that implemented the initiative, covering all states and territories. The costs of HHA, the costs to the state-level infection-prevention groups, the costs incurred by each acute hospital, and the costs for additional alcohol-based hand rub are all included. Findings The programme cost AU$5.56 million each year (US$5.76, £3.63 million). Most of the cost is incurred at the hospital level (65%) and arose from the extra time taken for auditing hand hygiene compliance and doing education and training. On average, each infection control practitioner spent 5 h per week on the NHHI, and the running cost per annum to their hospital was approximately AU$120,000 in 2012 (US$124,000, £78,000). Conclusion Good estimates of the total costs of this programme are fundamental to understanding the cost-effectiveness of implementing the NHHI. This paper reports transparent costing methods, and the results include their uncertainty.

Autosomal dominant spondylocostal dysostosis is caused by mutation in TBX6

In humans, congenital spinal defects occur with an incidence of 0.5-1 per 1000 live births. One of the most severe syndromes with such defects is spondylocostal dysostosis (SCD). Over the past decade, the genetic basis of several forms of autosomal recessive SCD cases has been solved with the identification of four causative genes (DLL3, MESP2, LFNG and HES7). Autosomal dominant forms of SCD have also been reported, but to date no genetic etiology has been described for these. Here, we have used exome capture and next-generation sequencing to identify a stoploss mutation in TBX6 that segregates with disease in two generations of one family. We show that this mutation has a deleterious effect on the transcriptional activation activity of the TBX6 protein, likely due to haploinsufficiency. In mouse, Tbx6 is essential for the patterning of the vertebral precursor tissues, somites; thus, mutation of TBX6 is likely to be causative of SCD in this family. This is the first identification of the genetic cause of an autosomal dominant form of SCD, and also demonstrates the potential of exome sequencing to identify genetic causes of dominant diseases even in small families with few affected individuals.

Is there a relationship between screening for diabetes related foot complications and limb amputation?

Background From the conservative estimates of registrants with the National Diabetes Supply Scheme, we will be soon passing 1.1 Million Australians affected by all types of diabetes. The diabetes complications of foot ulceration and amputation are costly to all. These costs can be reduced with appropriate prevention strategies, starting with identifying people at risk through primary care diabetic foot screening. Yet levels of diabetic foot screening in Australia are difficult to quantify. This presentation aims to report on foot screening rates as recorded in existing academic literature, national health surveys and national database reports. Methods Literature searches included diabetic foot screening that occurred in the primary care setting for populations over 2000 people from 2002 to 2014. Searches were performed using Medline and CINAHL as well as internet searches of Organisations for Economic Co-operation and Development (OECD) countries health databases. The focus is on type 1 and type 2 diabetes in adults, and not gestational diabetes or children. The two primary outcome measures were foot -screening rates as a percentage of adult diabetic population and major lower limb amputation incidence rates from standardised OECD data. Results The most recent and accurate level for Australian population review was in the AUSDIAB (Australian Diabetes and lifestyle survey) from 2004. This survey reported screening in primary care to be as low as 50%. Countries such as the United Kingdom and United States of America have much higher reported rates of foot screening (67-86%) recorded using national databases and web based initiatives that involve patients and clinicians. By comparison major amputation rates for Australia were similar to the United Kingdom at 6.5 versus 5.1 per 100,000 population, but dis-similar to the United States of America at 17 per 100,000 population. Conclusions Australian rates of diabetic foot screening in primary care centres is ambiguous. There is no direct relationship between foot screening levels in a primary care environment and major lower limb amputation, based on national health survey's and OECD data. Uptake of national registers, incentives and web-based systems improve levels of diabetic foot assessment, which are the first steps to a healthier diabetic population.