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Adding up the minutes to give kids with Rett syndrome valuable physical activity

Affecting approximately 400 people in Australia, Rett syndrome is a rare neurological disorder that occurs almost exclusively in girls and affects mobility and development, impacting everything from walking and talking to eating and breathing.

Elevated leukotriene B4 and 8-isoprostane in exhaled breath condensate from preterm-born infants

Inflammation and oxidative stress play a key role in the development of bronchopulmonary dysplasia (BPD), possibly contributing to persistent respiratory morbidity after preterm birth. We aimed to assess if inflammatory markers were elevated in exhaled breath condensate (EBC) of infants born very prematurely (< 32 weeks gestation) at 12-16 corrected months of age, and if increased levels were associated with BPD diagnosis and respiratory morbidity.

A blueprint for a multi-disease, multi-domain Bayesian adaptive platform trial incorporating adult and paediatric subgroups: the Staphylococcus aureus Network Adaptive Platform trial

The Staphylococcus aureus Network Adaptive Platform (SNAP) trial is a multifactorial Bayesian adaptive platform trial that aims to improve the way that S. aureus bloodstream infection, a globally common and severe infectious disease, is treated. In a world first, the SNAP trial will simultaneously investigate the effects of multiple intervention modalities within multiple groups of participants with different forms of S. aureus bloodstream infection.

Excess Mortality Among People With Rheumatic Heart Disease in Australia

Jonathan Carapetis AM AM MBBS FRACP FAFPHM PhD FAHMS Executive Director; Co-Head, Strep A Translation; Co-Founder of REACH 08 6319 1000 contact@

Timing and temporal trends of influenza and pertussis vaccinations during pregnancy in three Australian jurisdictions: The Links2HealthierBubs population-based linked cohort study, 2012–2017

Antenatal inactivated influenza and pertussis-containing vaccines offer protection against severe respiratory infections for pregnant women and infants <6 months of age. Both vaccines are recommended in pregnancy; however, little is known about temporal or jurisdictional trends and predictors of uptake.

Conceptualising Wellbeing for Australian Aboriginal LGBTQA+ Young People

It is likely that young people who are both Aboriginal and Torres Strait Islander and LGBTQA+ would be at increased risk for poor mental health outcomes due to the layered impacts of discrimination they experience; however, there is very little empirical evidence focused on the mental health and wellbeing of Aboriginal and Torres Strait Islander LGBTQA+ young people. The current study represents a qualitative exploration of wellbeing among Aboriginal LGBTQA+ young people. 

"I just get scared it's going to happen again": a qualitative study of the psychosocial impact of pediatric burns from the child's perspective

Advances in medicine have improved the chances of survival following burn injuries, however, psychosocial outcomes have not seen the same improvement, and burn injuries can be distressing for both the child or young person, negatively affecting their wellbeing. Pediatric burn patients are at a higher risk of developing psychopathology compared to the general population.

Inequity of antenatal influenza and pertussis vaccine coverage in Australia: the Links2HealthierBubs record linkage cohort study, 2012–2017

Pregnancy and early infancy are increased risk periods for severe adverse effects of respiratory infections. Aboriginal and/or Torres Strait Islander (respectfully referred to as First Nations) women and children in Australia bear a disproportionately higher burden of respiratory diseases compared to non-Indigenous women and infants. Influenza vaccines and whooping cough (pertussis) vaccines are recommended and free in every Australian pregnancy to combat these infections.

CRISPR-Cas9-generated PTCHD1 2489T>G stem cells recapitulate patient phenotype when undergoing neural induction

An estimated 3.5%-5.9% of the global population live with rare diseases, and approximately 80% of these diseases have a genetic cause. Rare genetic diseases are difficult to diagnose, with some affected individuals experiencing diagnostic delays of 5-30 years. Next-generation sequencing has improved clinical diagnostic rates to 33%-48%. In a majority of cases, novel variants potentially causing the disease are discovered. 

Walking the walk to include pregnant participants in non-obstetric clinical trials: Insights from the SNAP Trial

Despite several calls for greater inclusion of pregnant people in non-obstetric clinical trials, their systematic exclusion remains common practice. Excluding pregnant individuals from clinical trials may result in unintended consequences such as inadequate treatment of medical conditions in pregnancy, inappropriate dosing of medications, and investigational therapies being used off-label outside of the context of a clinical trial, risking adverse events in the absence of demonstrated efficacy.