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Research

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.

Research

Perspectives of LGBTQA+ young people on suicide prevention services in Australia

LGBTQA + people are less likely to access mental health care despite an increased risk of adverse mental health outcomes including suicidal thoughts and behaviours. The present study aimed to explore Australian LGBTQA + young people's perceptions of key factors associated with access to suicide prevention services.

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.

Research

ASCOT ADAPT study of COVID-19 therapeutics in hospitalised patients: an international multicentre adaptive platform trial

SARS-CoV-2 infection is associated with a significant risk of hospitalisation, death, and prolonged impact on quality of life. Evaluation of new treatment options and optimising therapeutic management of people hospitalised with SARS-CoV-2 infection remains essential, but rapid changes in pandemic conditions and potential therapies have limited the utility of traditional approaches to randomised controlled trials.

Research

Perspectives on the essential skills of healthcare decision making in children and adolescents with intellectual disability

Involvement in healthcare decisions is associated with better health outcomes for patients. For children and adolescents with intellectual disability, parents and healthcare professionals need to balance listening to a child's wishes with the responsibility of keeping them safe. 

Research

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. 

News & Events

New project to make FASD history in the Pilbara

A new project aimed at reducing Fetal Alcohol Spectrum Disorder (FASD) in the Pilbara has been launched today in South Hedland.

News & Events

Every day counts in the classroom

A recent study from The Kids Research Institute Australia has revealed some interesting facts about just how important those school attendance days are.

News & Events

New study shows fetal head size could link to autism

Research has found a link between children with larger head measurements in-utero and a subsequent diagnosis of Autism Spectrum Disorder (ASD) as toddlers.

News & Events

Critical mass in rare diseases - an innovative internet approach

The internet is emerging as a valuable tool for scientists to gather data for critical research into rare diseases.