Mutations in LTBP3 cause acromicric dysplasia and geleophysic dysplasia.

Background: Acromelic dysplasias are a group of disorders characterised by short stature, brachydactyly, limited joint extension and thickened skin and comprises acromicric dysplasia (AD), geleophysic dysplasia (GD), Myhre syndrome and Weill-Marchesani syndrome. Mutations in several genes have been identified for these disorders (including latent transforming growth factor β (TGF-β)-binding protein-2 (LTBP2), ADAMTS10, ADAMSTS17 and fibrillin-1 (FBN1) for Weill-Marchesani syndrome, ADAMTSL2 for recessive GD and FBN1 for AD and dominant GD), encoding proteins involved in the microfibrillar network. However, not all cases have mutations in these genes.

Fryns Syndrome Associated with Recessive Mutations in PIGN in two Separate Families.

Fryns syndrome is an autosomal recessive condition characterized by congenital diaphragmatic hernia (CDH), dysmorphic facial features, distal digital hypoplasia, and other associated malformations, and is the most common syndromic form of CDH. No gene has been associated with this condition. Whole-exome sequence data from two siblings and three unrelated individuals with Fryns syndrome were filtered for rare, good quality, coding mutations fitting a recessive inheritance model.

Microparticles for Sustained Growth Factor Delivery in the Regeneration of Critically-Sized Segmental Tibial Bone Defects.

This study trialled the controlled delivery of growth factors within a biodegradable scaffold in a large segmental bone defect model. We hypothesised that co-delivery of vascular endothelial growth factor (VEGF) and platelet derived growth factor (PDGF) followed by bone morphogenetic protein-2 (BMP-2) could be more effective in stimulating bone repair than the delivery of BMP-2 alone. Poly(lactic-co-glycolic acid) (PLGA ) based microparticles were used as a delivery system to achieve a controlled release of growth factors within a medical-grade Polycaprolactone (PCL) scaffold.

Analysis of five chronic inflammatory diseases identifies 27 new associations and highlights disease-specific patterns at shared loci.

We simultaneously investigated the genetic landscape of ankylosing spondylitis, Crohn's disease, psoriasis, primary sclerosing cholangitis and ulcerative colitis to investigate pleiotropy and the relationship between these clinically related diseases. Using high-density genotype data from more than 86,000 individuals of European ancestry, we identified 244 independent multidisease signals, including 27 new genome-wide significant susceptibility loci and 3 unreported shared risk loci. Complex pleiotropy was supported when contrasting multidisease signals with expression data sets from human, rat and mouse together with epigenetic and expressed enhancer profiles.

Characterisation of CD4 T cells in healthy and diseased koalas (Phascolarctos cinereus) using cell-type-specific monoclonal antibodies.

The koala (Phascolarctos cinereus) is an arboreal herbivorous marsupial that is an Australian icon. Koalas in many parts of Australia are under multiple threats including habitat destruction, dog attacks, vehicular accidents, and infectious diseases such as Chlamydia spp. and the koala retrovirus (KoRV), which may contribute to the incidence of lymphoma and leukaemia in this species.

Predicting intentions and behaviours in populations with or at-risk of diabetes: A systematic review.

Purpose: To systematically review the Theory of Planned Behaviour studies predicting self-care intentions and behaviours in populations with and at-risk of diabetes.

Methods: A systematic review using six electronic databases was conducted in 2013. A standardised protocol was used for appraisal.

Facilitating or getting in the way? The effect of clinicians' knowledge, values and beliefs on referral and participation.

Background: Despite the compelling evidence of the benefits of cardiac rehabilitation (CR) on risk factor modification, quality of life and mortality reduction, a significant proportion of eligible patients are not referred or do not participate. Factors influencing CR referral and participation are complex and are likely patient, referral system and clinician-related. Little is known about clinician-related factors, which include attitudes, values and beliefs towards CR, or how these factors affect patient referral and attendance.

Growth Factor-Loaded Microparticles for Tissue Engineering: The Discrepancies of In Vitro Characterization Assays.

Efficient and effective growth factor (GF) delivery is an ongoing challenge for tissue regeneration therapies. The accurate quantification of complex molecules such as GFs, encapsulated in polymeric delivery devices, is equally critical and just as complex as achieving efficient delivery of active GFs. In this study, GFs relevant to bone tissue formation, vascular endothelial growth factor (VEGF) and bone morphogenetic protein 7 (BMP-7), were encapsulated, using the technique of electrospraying, into poly(lactic-co-glycolic acid) microparticles that contained poly(ethylene glycol) and trehalose to assist GF bioactivity.

Induction of partial immunity in both males and females is sufficient to protect females against sexual transmission of Chlamydia.

Sexually transmitted Chlamydia trachomatis causes infertility, and because almost 90% of infections are asymptomatic, a vaccine is required for its eradication. Mathematical modeling studies have indicated that a vaccine eliciting partial protection (non-sterilizing) may prevent Chlamydia infection transmission, if administered to both sexes before an infection. However, reducing chlamydial inoculum transmitted by males and increasing infection resistance in females through vaccination to elicit sterilizing immunity has yet to be investigated experimentally.

Psychosocial factors significantly predict driving self-regulation in Australian older adults.

Aims: This study aimed to investigate: (i) whether attitudes and beliefs about driving predict older adults' driving self-regulation, and how much variance in self-regulation can be explained by these factors; and (ii) if driving confidence is controlled, whether attitudes and beliefs remain significant independent predictors of driving self-regulation.

Method: The present study examined the psychosocial factors that underlie driving self-regulation in 277 older adults within Australia. Participants completed standardised questionnaires about their driving, attitudes, belief and use of driving self-regulation.

Super DNAging-New insights into DNA integrity, genome stability and telomeres in the oldest old.

Reductions in DNA integrity, genome stability, and telomere length are strongly associated with the aging process, age-related diseases as well as the age-related loss of muscle mass. However, in people reaching an age far beyond their statistical life expectancy the prevalence of diseases, such as cancer, cardiovascular disease, diabetes or dementia, is much lower compared to "averagely" aged humans. These inverse observations in nonagenarians (90-99 years), centenarians (100-109 years) and super-centenarians (110 years and older) require a closer look into dynamics underlying DNA damage within the oldest old of our society.

Utility of Bayesian networks in QMRA-based evaluation of risk reduction options for recycled water.

Background: Quantitative microbial risk assessment (QMRA), the current method of choice for evaluating human health risks associated with disease-causing microorganisms, is often constrained by issues such as availability of required data, and inability to incorporate the multitude of factors influencing risk. Bayesian networks (BNs), with their ability to handle data paucity, combine quantitative and qualitative information including expert opinions, and ability to offer a systems approach to characterisation of complexity, are increasingly recognised as a powerful, flexible tool that overcomes these limitations.

Objectives: We present a QMRA expressed as a Bayesian network (BN) in a wastewater reuse context, with the objective of demonstrating the utility of the BN method in health risk assessments, particularly for evaluating a range of exposure and risk mitigation scenarios.

A Chlamydia trachomatis strain with a chemically generated amino acid substitution (P370L) in the cthtrA gene shows reduced elementary body production.

Background: Chlamydia (C.) trachomatis is the most prevalent bacterial sexually transmitted infection worldwide and the leading cause of preventable blindness. Genetic approaches to investigate C.

Genome Wide Association Analysis Reveals New Production Trait Genes in a Male Duroc Population.

In this study, 796 male Duroc pigs were used to identify genomic regions controlling growth traits. Three production traits were studied: food conversion ratio, days to 100 KG, and average daily gain, using a panel of 39,436 single nucleotide polymorphisms. In total, we detected 11 genome-wide and 162 chromosome-wide single nucleotide polymorphism trait associations.

The Step approach to Message Design and Testing (SatMDT): A conceptual framework to guide the development and evaluation of persuasive health messages.

This paper provides an important and timely overview of a conceptual framework designed to assist with the development of message content, as well as the evaluation, of persuasive health messages. While an earlier version of this framework was presented in a prior publication by the authors in 2009, important refinements to the framework have seen it evolve in recent years, warranting the need for an updated review. This paper outlines the Step approach to Message Design and Testing (or SatMDT) in accordance with the theoretical evidence which underpins, as well as empirical evidence which demonstrates the relevance and feasibility of, each of the framework's steps.

Protective effects of reactive functional groups on chondrocytes in photocrosslinkable hydrogel systems.

Unlabelled: Photocrosslinkable hydrogels are frequently used in cartilage tissue engineering, with crosslinking systems relying on cytotoxic photoinitiators and ultraviolet (UV) light to form permanent hydrogels. These systems are rarely assessed in terms of optimization of photoinitiator or UV dosage, with non-cytotoxic concentrations from literature deemed sufficient. We hypothesized that the number of reactive functional groups present within a hydrogel polymer is highly relevant when crosslinking, affording cytoprotection to chondrocytes by preferentially interacting with the highly reactive radicals that are formed during UV-mediated activation of a photoinitiator.

Modelling microbial health risk of wastewater reuse: A systems perspective.

There is a widespread need for the use of quantitative microbial risk assessment (QMRA) to determine reclaimed water quality for specific uses, however neither faecal indicator levels nor pathogen concentrations alone are adequate for assessing exposure health risk. The aim of this study was to build a conceptual model representing factors contributing to the microbiological health risks of reusing water treated in maturation ponds. This paper describes the development of an unparameterised model that provides a visual representation of theoretical constructs and variables of interest.

The cost-effectiveness of the MobileMums intervention to increase physical activity among mothers with young children: a Markov model informed by a randomised controlled trial.

Objectives: To determine the cost-effectiveness of the MobileMums intervention. MobileMums is a 12-week programme which assists mothers with young children to be more physically active, primarily through the use of personalised SMS text-messages.

Design: A cost-effectiveness analysis using a Markov model to estimate and compare the costs and consequences of MobileMums and usual care.

The development, factor structure and psychometric properties of driving self-regulation scales for older adults: Has self-regulation evolved in the last 15 years?

The term driving self-regulation is typically used to describe the practice of drivers who avoid driving in situations that they regard as unsafe because of perceived physical impairment. Older adults report using this strategy to improve safety while retaining mobility. Self-regulation is typically assessed using the driving avoidance items from the driving habits questionnaire (DHQ) and the driver mobility questionnaire (DMQ-A).

Beyond QMRA: Modelling microbial health risk as a complex system using Bayesian networks.

Background: Quantitative microbial risk assessment (QMRA) is the current method of choice for determining the risk to human health from exposure to microorganisms of concern. However, current approaches are often constrained by the availability of required data, and may not be able to incorporate the many varied factors that influence this risk. Systems models, based on Bayesian networks (BNs), are emerging as an effective complementary approach that overcomes these limitations.

Association between single-nucleotide polymorphisms in growth factor genes and quality of life in men with prostate cancer and the general population.

Purpose: Improved survival for men with prostate cancer has led to increased attention to factors influencing quality of life (QOL). As protein levels of vascular endothelial growth factor (VEGF) and insulin-like growth factor 1 (IGF-1) have been reported to be associated with QOL in people with cancer, we sought to identify whether single-nucleotide polymorphisms (SNPs) of these genes were associated with QOL in men with prostate cancer.

Methods: Multiple linear regression of two data sets (including approximately 750 men newly diagnosed with prostate cancer and 550 men from the general population) was used to investigate SNPs of VEGF and IGF-1 (10 SNPs in total) for associations with QOL (measured by the SF-36v2 health survey).

Toward the Multilevel Older Person's Transportation and Road Safety Model: A New Perspective on the Role of Demographic, Functional, and Psychosocial Factors.

Objectives: Self-regulation refers to the practice of using self-imposed restrictions to protect oneself from situations that are, or are perceived to be, unsafe. Within the driving context, self-regulation refers the compensatory practices that some older adults adopt to restrict their driving to situations in which they feel safe. However, the way in which demographic, functional, and psychosocial factors, and the interactions between these factors, influence older adults' driving self-regulation is not well understood.

"I drove after drinking alcohol" and other risky driving behaviours reported by young novice drivers.

Background: Volitional risky driving behaviours such as drink- and drug-driving (i.e. substance-impaired driving) and speeding contribute to the overrepresentation of young novice drivers in road crash fatalities, and crash risk is greatest during the first year of independent driving in particular.

Proteogenomics of selective susceptibility to endotoxin using circulating acute phase biomarkers and bioassay development in sheep: a review.

Scientists have injected endotoxin into animals to investigate and understand various pathologies and novel therapies for several decades. Recent observations have shown that there is selective susceptibility to Escherichia coli lipopolysaccharide (LPS) endotoxin in sheep, despite having similar breed characteristics. The reason behind this difference is unknown, and has prompted studies aiming to explain the variation by proteogenomic characterisation of circulating acute phase biomarkers.