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Research

The 8th International RASopathies Symposium: Expanding research and care practice through global collaboration and advocacy

Germline pathogenic variants in the RAS/mitogen-activated protein kinase (MAPK) signaling pathway are the molecular cause of RASopathies, a group of clinically overlapping genetic syndromes.

Research

Comparison of new computational methods for spatial modelling of malaria

Geostatistical analysis of health data is increasingly used to model spatial variation in malaria prevalence, burden, and other metrics. Traditional inference methods for geostatistical modelling are notoriously computationally intensive, motivating the development of newer, approximate methods for geostatistical analysis or, more broadly, computational modelling of spatial processes.

Research

Hospital and emergency department discharge against medical advice in Western Australian Aboriginal children aged 0–4 years from 2002 to 2018: A cohort study

Discharge against medical advice (DAMA) is a priority issue for the health system. Little is known about the factors associated with DAMA for Aboriginal and/or Torres Strait Islander (Aboriginal) children in Australia. 

Research

Systemic perturbations in amino acids/amino acid derivatives and tryptophan pathway metabolites associated with murine influenza A virus infection

Influenza A virus is the only influenza virus causing flu pandemics. Influenza is a highly contagious disease that can be deadly, especially in high-risk groups. Worldwide, these annual epidemics are estimated to result in about 3 to 5 million cases of severe illness and in about 290,000 to 650,000 respiratory deaths. 

Research

The airway smooth muscle layer is structurally abnormal in low birth weight infants: implications for obstructive disease

Citation: Wang KCW, Elliot JG, Saglani S, et al. The airway smooth muscle layer is structurally abnormal in low birth weight infants: implications

Research

Hearing loss in Australian First Nations children at 6-monthly assessments from age 12 to 36 months: Secondary outcomes from randomised controlled trials of novel pneumococcal conjugate vaccine schedules

In Australian remote communities, First Nations children with otitis media (OM)-related hearing loss are disproportionately at risk of developmental delay and poor school performance, compared to those with normal hearing. Our objective was to compare OM-related hearing loss in children randomised to one of 2 pneumococcal conjugate vaccine (PCV) formulations.

Research

Parent-reported outcome measures evaluating communication in individuals with rare neurodevelopmental disorders: A systematic review

Communication impairments are a leading concern for parent caregivers of individuals with rare neurodevelopmental disorders. Clinical trials of disease modifying therapies require valid and responsive outcome measures that are relevant to individuals with RNDDs. Identifying and evaluating current psychometric properties for communication measures is a critical step towards the selection and use of appropriate instruments. 

Research

Precision-guided treatment in high-risk pediatric cancers

Recent research showed that precision medicine can identify new treatment strategies for patients with childhood cancers. However, it is unclear which patients will benefit most from precision-guided treatment.

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

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.