New genetic loci link adipose and insulin biology to body fat distribution

Body fat distribution is a heritable trait and a well-established predictor of adverse metabolic outcomes, independent of overall adiposity. To increase our understanding of the genetic basis of body fat distribution and its molecular links to cardiometabolic traits, here we conduct genome-wide association meta-analyses of traits related to waist and hip circumferences in up to 224,459 individuals. We identify 49 loci (33 new) associated with waist-to-hip ratio adjusted for body mass index (BMI), and an additional 19 loci newly associated with related waist and hip circumference measures (P < 5 × 10−8). In total, 20 of the 49 waist-to-hip ratio adjusted for BMI loci show significant sexual dimorphism, 19 of which display a stronger effect in women. The identified loci were enriched for genes expressed in adipose tissue and for putative regulatory elements in adipocytes. Pathway analyses implicated adipogenesis, angiogenesis, transcriptional regulation and insulin resistance as processes affecting fat distribution, providing insight into potential pathophysiological mechanisms.

Genetic studies of body mass index yield new insights for obesity biology

Obesity is heritable and predisposes to many diseases. To understand the genetic basis of obesity better, here we conduct a genome-wide association study and Metabochip meta-analysis of body mass index (BMI), a measure commonly used to define obesity and assess adiposity, in up to 339,224 individuals. This analysis identifies 97 BMI-associated loci (P < 5 × 10−8), 56 of which are novel. Five loci demonstrate clear evidence of several independent association signals, and many loci have significant effects on other metabolic phenotypes. The 97 loci account for ~2.7% of BMI variation, and genome-wide estimates suggest that common variation accounts for >20% of BMI variation. Pathway analyses provide strong support for a role of the central nervous system in obesity susceptibility and implicate new genes and pathways, including those related to synaptic function, glutamate signalling, insulin secretion/action, energy metabolism, lipid biology and adipogenesis.

Heat acclimation for protection from exertional heat stress (Protocol)

This is the protocol for a review and there is no abstract. The objectives are as follows: To assess the effects of heat acclimation interventions aimed at protecting health and performance from exertional heat stress.

A case of true hermaphroditism reveals an unusual mechanism of twinning

Traditionally twins are classified as dizygous or fraternal and monozygous or identical (Hall Twinning, 362, 2003 and 735-743). We report a rare case of 46,XX/46,XY twins: Twin A presented with ambiguous genitalia and Twin B was a phenotypically normal male. These twins demonstrate a third, previously unreported mechanism for twinning. The twins underwent initial investigation with 17-hydroxyprogesterone and testosterone levels, pelvic ultrasound and diagnostic laparoscopy. Cytogenetic analysis was performed on peripheral blood cells and skin fibroblasts. Histological examination and Fluorescence in situ hybridization studies on touch imprints were performed on gonadal biopsies. DNA analysis using more than 6,000 DNA markers was performed on skin fibroblast samples from the twins and on peripheral blood samples from both parents. Twin A was determined to be a true hermaphrodite and Twin B an apparently normal male. Both twins had a 46,XX/46,XY chromosome complement in peripheral lymphocytes, skin fibroblasts, and gonadal biopsies. The proportion of XX to XY cells varied between the twins and the tissues evaluated. Most significantly the twins shared 100% of maternal alleles and approximately 50% of paternal alleles in DNA analysis of skin fibroblasts. The twins are chimeric and share a single genetic contribution from their mother but have two genetic contributions from their father thus supporting the existence of a third, previously unreported type of twinning.

Correlación entre la personalidad y los factores de la Teoría del Comportamiento Planeado (TCP) en adolescentes escolarizados de 11-19 años del Caribe Colombiano

The increasing rate of pregnancies in teenagers and the high incident of the infections of sexual transmission (HIV/ AIDS, for example), these are health related issues (and especially the sexual and reproductive health), which have received great attention on the part of investigators and of the public opinion in general. Recently, there has been evidenced that teenagers carry out very easily risk sexual behaviors, and those who have not presented the above mentioned behaviors also show high levels of intention to carry out them. There is the hypothesis that besides cognitive variables such as attitudes, subjective norms, perceived behavioral control and intention, the personality of the young persons is an aspect that plays an important paper in their sexual and reproductive health. Significant correlations were found between the variales of the TPB and the personality traits; the results suggest that the direction of these correlations is associated with the specific type of behavior or situation that is assessed. Keywords: personality, theory of planned behavior, adolescents, reproductive sexuality.

Halosulfuron-methyl: A selective herbicide option for the control of the invasive 'Cyperus aromaticus' (Ridley) Mattf. and Kukenth (Navua sedge)

There are currently limited options for the control of the invasive tropical perennial sedge 'Cyperus aromaticus' (Ridley) Mattf. and Kukenth (Navua sedge). The potential for halosulfuron-methyl as a selective herbicide for Navua sedge control in tropical pastures was investigated by undertaking successive field and shade house experiments in North Queensland, Australia. Halosulfuron-methyl and adjuvant rates, and combinations with other herbicides, were examined to identify a herbicide regime that most effectively reduced Navua sedge. Our research indicated that combining halosulfuron- methyl with other herbicides did not improve efficacy for Navua sedge control. We also identified that low rates of halosulfuron-methyl (25 g ha-1 a.i.) were just as effective as higher rates (73 g ha-1 a.i.) at controlling the sedge, and that this control relied on the addition of the adjuvant Bonza at the recommended concentration (1% of the spray volume). Pot trials in the controlled environment of the shade house achieved total mortality under these regimes. Field trials demonstrated more variable results with reductions in Navua sedge ranging between 40-95% at 8-10 weeks after treatment. After this period (16-24 weeks after treatment), regrowth of sedge, either from newly germinated seed, or of small plants protected from initial treatment, indicated sedge populations can rapidly increase to levels similar to pre-application, depending on the location and climatic conditions. Such variable results highlight the need for concerted monitoring of pastures to identify optimal treatment times. Ideally, initial treatment should be done when the sedge is healthy and actively growing, with follow up-treatments applied when new seed heads are produced from regrowth.

Editorial of "International Journal of Critical Indigenous Studies Volume 4, Number 2, 2011"

This special edition of the International Journal of Critical Indigenous Studies focuses upon the work scholars within the growing discipline of Aboriginal and Torres Strait Islander health studies. The lamentable state of Indigenous health in Australia is reflected in Indigenous populations elsewhere, especially where settler colonialism has left an indelible mark. This special edition therefore speaks to where Indigenous health outcomes and the efficacy of remedies are causing concern. Common to all is the demand that Indigenous people are placed front and centre of all attempts to improve health outcomes and that improvements are sought in culturally sensitive ways. Terry Dunbar presents findings from a research study that set out to investigate the Indigenous experiences of health and family services in the Northern Territory, Australia. The study asserts that cultural security is an integral and vital element of any policy that will impact upon Indigenous peoples. Dunbar concludes by arguing that in seeking positive change with regard to cultural security or otherwise, the most vociferous champions of that change are likely to be the Aboriginal communities affected. The article by Bronwyn Fredericks, Karen Adams, Sandra Angus and Melissa Walker also highlights the need to involve Aboriginal and Torres Strait Islander people, in this case women, in the design and development of strategies affecting their lives. Utilising routine communication methods such the ‘talking circle’ and the process referred to as ‘talkin’ up’, where women ‘talk back’ to one another about issues of personal importance, the article argues that the health strategy which emerged through these consultation approaches was more accurately informed by and responsive to women’s health need. Indeed, the resulting strategy reflected the women’s sense of themselves and the clear direction they felt their health services and polices should take.

Sleep quantity and quality during heat-based training and the effects of cold-water immersion recovery

- Introduction Heat-based training (HT) is becoming increasingly popular as a means of inducing acclimation before athletic competition in hot conditions and/or to augment the training impulse beyond that achieved in thermo-neutral conditions. Importantly, current understanding of the effects of HT on regenerative processes such as sleep and the interactions with common recovery interventions remain unknown. This study aimed to examine sleep characteristics during five consecutive days of training in the heat with the inclusion of cold-water immersion (CWI) compared to baseline sleep patterns. - Methods Thirty recreationally-trained males completed HT in 32 ± 1 °C and 60% rh for five consecutive days. Conditions included: 1) 90 min cycling at 40 % power at VO2max (Pmax) (90CONT; n = 10); 90 min cycling at 40 % Pmax with a 20 min CWI (14 ± 1 °C; 90CWI; n = 10); and 30 min cycling alternating between 40 and 70 % Pmax every 3 min, with no recovery intervention (30HIT; n = 10). Sleep quality and quantity was assessed during HT and four nights of 'baseline' sleep (BASE). Actigraphy provided measures of time in and out of bed, sleep latency, efficiency, total time in bed and total time asleep, wake after sleep onset, number of awakenings, and wakening duration. Subjective ratings of sleep were also recorded using a 1-5 Likert scale. Repeated measures analysis of variance (ANOVA) was completed to determine effect of time and condition on sleep quality and quantity. Cohen's d effect sizes were also applied to determine magnitude and trends in the data. - Results Sleep latency, efficiency, total time in bed and number of awakenings were not significantly different between BASE and HT (P > 0.05). However, total time asleep was significantly reduced (P = 0.01; d = 1.46) and the duration periods of wakefulness after sleep onset was significantly greater during HT compared with BASE (P = 0.001; d = 1.14). Comparison between training groups showed latency was significantly higher for the 30HIT group compared to 90CONT (P = 0.02; d = 1.33). Nevertheless, there were no differences between training groups for sleep efficiency, total time in bed or asleep, wake after sleep onset, number of awakenings or awake duration (P > 0.05). Further, cold-water immersion recovery had no significant effect on sleep characteristics (P > 0.05). - Discussion Sleep plays an important role in athletic recovery and has previously been demonstrated to be influenced by both exercise training and thermal strain. Present data highlight the effect of HT on reduced sleep quality, specifically reducing total time asleep due to longer duration awake during awakenings after sleep onset. Importantly, although cold water recovery accelerates the removal of thermal load, this intervention did not blunt the negative effects of HT on sleep characteristics. - Conclusion Training in hot conditions may reduce both sleep quantity and quality and should be taken into consideration when administering this training intervention in the field.

Prediction of individual genetic risk to prostate cancer using a polygenic score

BACKGROUND Polygenic risk scores comprising established susceptibility variants have shown to be informative classifiers for several complex diseases including prostate cancer. For prostate cancer it is unknown if inclusion of genetic markers that have so far not been associated with prostate cancer risk at a genome-wide significant level will improve disease prediction. METHODS We built polygenic risk scores in a large training set comprising over 25,000 individuals. Initially 65 established prostate cancer susceptibility variants were selected. After LD pruning additional variants were prioritized based on their association with prostate cancer. Six-fold cross validation was performed to assess genetic risk scores and optimize the number of additional variants to be included. The final model was evaluated in an independent study population including 1,370 cases and 1,239 controls. RESULTS The polygenic risk score with 65 established susceptibility variants provided an area under the curve (AUC) of 0.67. Adding an additional 68 novel variants significantly increased the AUC to 0.68 (P = 0.0012) and the net reclassification index with 0.21 (P = 8.5E-08). All novel variants were located in genomic regions established as associated with prostate cancer risk. CONCLUSIONS Inclusion of additional genetic variants from established prostate cancer susceptibility regions improves disease prediction. Prostate 75:1467–1474, 2015. © 2015 Wiley Periodicals, Inc.

A rare P2X7 variant Arg307Gln with absent pore formation function protects against neuroinflammation in multiple sclerosis

Multiple sclerosis (MS) is a chronic relapsing-remitting inflammatory disease of the central nervous system characterized by oligodendrocyte damage, demyelination and neuronal death. Genetic association studies have shown a 2-fold or greater prevalence of the HLA-DRB1*1501 allele in the MS population compared with normal Caucasians. In discovery cohorts of Australasian patients with MS (total 2941 patients and 3008 controls), we examined the associations of 12 functional polymorphisms of P2X7, a microglial/macrophage receptor with proinflammatory effects when activated by extracellular adenosine triphosphate (ATP). In discovery cohorts, rs28360457, coding for Arg307Gln was associated with MS and combined analysis showed a 2-fold lower minor allele frequency compared with controls (1.11% for MS and 2.15% for controls, P = 0.0000071). Replication analysis of four independent European MS case–control cohorts (total 2140 cases and 2634 controls) confirmed this association [odds ratio (OR) = 0.69, P = 0.026]. A meta-analysis of all Australasian and European cohorts indicated that Arg307Gln confers a 1.8-fold protective effect on MS risk (OR = 0.57, P = 0.0000024). Fresh human monocytes heterozygous for Arg307Gln have >85% loss of ‘pore’ function of the P2X7 receptor measured by ATP-induced ethidium uptake. Analysis shows Arg307Gln always occurred with 270His suggesting a single 307Gln–270His haplotype that confers dominant negative effects on P2X7 function and protection against MS. Modeling based on the homologous zP2X4 receptor showed Arg307 is located in a region rich in basic residues located only 12 Å from the ligand binding site. Our data show the protective effect against MS of a rare genetic variant of P2RX7 with heterozygotes showing near absent proinflammatory ‘pore’ function.

Talkin' up our doctoral research

For Aboriginal and Torres Strait Islander people, undertaking the PhD journey brings with it specific challenges in how best to use the knowledge gained to make changes that will actively benefit Indigenous peoples and communities. Even within the health sector implementing research outcomes can sometimes be problematic. The Maori and Indigenous D octoral (MAI) Conference hosted by Te Whare Wananga o Awanuiarangi (Indigenous U niversity), Whakatane, New Zealand, addressed this by considering the contribution of Indigenous doctoral research to advancements of Maori. As Aboriginal and Torres Strait Islander people engaging in Doctoral studies, this conference was equally relevant to us.

Women bashing: An urban Aboriginal perspective

ABORIGINAL people in urbanised Australia experience violence on a daily basis. This violence ranges from the psychological (the covert hostility of the corner shop, the denial of the Aboriginality of fair-skinned or urban Blacks) through to the physical brutality of the criminal justice system. For Aboriginal women and children this daily violence is not only public but also has a private, B1ack-on-B1ack dimension. The Aboriginal home may be some refuge from the slights of white Australia but this is cold comfort to women for whom being 'flogged up' by their partners is so ordinary an event as to be unremarkable.

Promoting sun safety in the workplace – what works?

Objective Australia has one of the highest skin cancer incidence and mortality rates in the world. Outdoor workers are a high risk group. Australian workplaces are undergoing large scale safety related changes, yet the mandate to provide specific sun safe practices remains absent. With much of the previous research aiming to improve sun safety in the workplace being quantitative in nature, relatively little is known about why certain sun safe strategies will or will not be successful in workplaces. Methods This qualitative article explores the enablers and barriers identified during an 18-month mixed methods project conducted in Queensland, Australia which aimed to improve workplace sun safe interventions. Results A variety of key enablers and barriers to implementing sun safe interventions in the workplace were identified, including presence of an engaged workplace champion, ownership and innovation by the workers. Conclusions These findings were part of a broader integration of interlinked qualitative and quantitative methods to yield a more complete picture of the determinants of the issue, implementation process and likelihood of changes at the workplace. Implications The paper provides guidance for public and occupational health practitioners on the selection of the most promising strategies when assisting workplaces to become sun safe.

Truckies and health promotion: A “hard-to-reach” group without a “proper” workplace.

This literature review was undertaken to inform a settings based health promotion research project, conducted by a public health research team at the Queensland University of Technology (QUT). The aim of this project is to identify how transport workplaces can support their truck drivers to access healthy food options and increase physical activity. Truck drivers in Australia are at increased risk of numerous chronic diseases, in part due to the restrictions placed upon them by the environment in which they work. Barriers to good health through adequate nutrition and physical activity are the result of a complex interaction between government regulations, corporate policies, the built environment and individual factors. Few interventions target this population in a meaningful and sustainable way, though evidence exists for interventions which can be translated into truck drivers working environment.

Understanding urban rail travel for improved patronage forecasting

Improved forecasting of urban rail patronage is essential for effective policy development and efficient planning for new rail infrastructure. Past modelling and forecasting of urban rail patronage has been based on legacy modelling approaches and often conducted at the general level of public transport demand, rather than being specific to urban rail. This project canvassed current Australian practice and international best practice to develop and estimate time series and cross-sectional models of rail patronage for Australian mainland state capital cities. This involved the implementation of a large online survey of rail riders and non-riders for each of the state capital cities, thereby resulting in a comprehensive database of respondent socio-economic profiles, travel experience, attitudes to rail and other modes of travel, together with stated preference responses to a wide range of urban travel scenarios. Estimation of the models provided a demonstration of their ability to provide information on the major influences on the urban rail travel decision. Rail fares, congestion and rail service supply all have a strong influence on rail patronage, while a number of less significant factors such as fuel price and access to a motor vehicle are also influential. Of note, too, is the relative homogeneity of rail user profiles across the state capitals. Rail users tended to have higher incomes and education levels. They are also younger and more likely to be in full-time employment than non-rail users. The project analysis reported here represents only a small proportion of what could be accomplished utilising the survey database. More comprehensive investigation was beyond the scope of the project and has been left for future work.