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Pathogenic variants in RNPC3 are associated with hypopituitarism and primary ovarian insufficiency

We aimed to investigate the molecular basis underlying a novel phenotype including hypopituitarism associated with primary ovarian insufficiency.

Potential role for immune-related genes in autism spectrum disorders: Evidence from genome-wide association meta-analysis of autistic traits

Autism spectrum disorders are complex, with a strong genetic basis. Genetic research in autism spectrum disorders is limited by the fact that these disorders are largely heterogeneous so that patients are variable in their clinical presentations. To address this limitation, we investigated the genetics of individual dimensions of the autism spectrum disorder phenotypes, or autistic-like traits. These autistic-like traits are continuous variations in autistic behaviours that occur in the general population.

Someday we’ll look back on this, and it will all seem funny. The lung and ventilation special issue 2030 and beyond

Britta Regli-von Ungern-Sternberg AM FAHMS MD, PhD, DEAA, FANZA Chair of Paediatric anaesthesia, University of Western Australia; Consultant

Researching the researchers: psychological distress and psychosocial stressors according to career stage in mental health researchers

Although there are many benefits associated with working in academia, this career path often involves structural and organisational stressors that can be detrimental to wellbeing and increase susceptibility to psychological distress and mental ill health. This exploratory study examines experiences of work-related psychosocial stressors, psychological distress, and mental health diagnoses among mental health researchers.

Comparison of home ambulatory type 2 polysomnography with a portable monitoring device and in-laboratory type 1 polysomnography for the diagnosis of obstructive sleep apnea in children

To compare type 2 polysomnography (T2PSG) to the gold standard type 1 in-laboratory polysomnography (T1PSG) for diagnosing obstructive sleep apnea (OSA) in children; validate home T2PSG in children with suspected OSA.

Long-term outcomes following rheumatic heart disease diagnosis in Australia

Jeffrey Jonathan Judy Cannon Carapetis AM Katzenellenbogen BSc(Hons) BBus PhD AM MBBS FRACP FAFPHM PhD FAHMS BSc (Occ Ther) BSc Hons (Epidemiol) MSc

Quality of life is poorly correlated to lung disease severity in school-aged children with cystic fibrosis

There is no data exclusively on the relationship between health-related quality-of-life (HRQOL) and lung disease severity in early school-aged children with cystic fibrosis (CF). Using data from the Australian Respiratory Early Surveillance Team for Cystic Fibrosis (AREST CF) we assessed the relationships between HRQOL, lung function and structure.

The relationship between physical activity, self-regulation and cognitive school readiness in preschool children

Limited research exists on the pathways through which physical activity influences cognitive development in the early years. This study examined the direct and indirect relationships between physical activity, self-regulation, and cognitive school readiness in preschool children.

Prospective characterisation of SARS-CoV-2 infections among children presenting to tertiary paediatric hospitals across Australia in 2020: A national cohort study

To present Australia-wide data on paediatric COVID-19 and multisystem inflammatory syndromes to inform health service provision and vaccination prioritisation. Design Prospective, multicentre cohort study. Setting Eight tertiary paediatric hospitals across six Australian states and territories in an established research surveillance network - Paediatric Active Enhanced Disease (PAEDS).

Rare variant analysis in eczema identifies exonic variants in DUSP1, NOTCH4 and SLC9A4

Previous genome-wide association studies revealed multiple common variants involved in eczema but the role of rare variants remains to be elucidated. Here, we investigate the role of rare variants in eczema susceptibility. We meta-analyze 21 study populations including 20,016 eczema cases and 380,433 controls. Rare variants are imputed with high accuracy using large population-based reference panels.