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Research

Birk-Landau-Perez syndrome is a genetic disorder caused by biallelic pathogenic variants in SLC30A9 presenting with a complex movement disorder, developmental regression, oculomotor abnormalities, and renal impairment. It has previously been reported in 2 families. We describe the clinical phenotype of 8 further individuals from 4 unrelated families with SLC30A9-related disease.

Research

Preterm birth (PTB) and stillbirth remain two of the most important causes of death, morbidity, and disability in childhood. Despite efforts to reduce PTB and stillbirth worldwide, rates of these adverse outcomes remain persistently elevated, independent of income setting. There is an urgent need for more effective interventions to reduce associated neonatal and early childhood morbidity and mortality.

Research

Lung transcriptomics studies in asthma have provided valuable information in the whole lung context, however, deciphering the individual contributions of the airway and parenchyma in disease pathogenesis may expedite the development of novel targeted treatment strategies. In this study, we performed transcriptomics on the airway and parenchyma using a house dust mite (HDM)-induced model of experimental asthma that replicates key features of the human disease.

Research

Respiratory syncytial virus is the second most common cause of infant mortality and a major cause of morbidity and mortality in older adults (aged >60 years). Efforts to develop a respiratory syncytial virus vaccine or immunoprophylaxis remain highly active.

Research

Recent studies have reported that strengths-based programs, leveraging autistic adolescents' abilities and interests, could improve their skills and facilitate social engagement. However, little is known about the long-term impact of strengths-based approaches. This study aimed to explore the long-term outcomes of community strengths-based programs designed to support autistic adolescents in developing interests and skills in Science, Technology, Engineering, Arts, and Mathematics (STEAM) and the factors influencing their participation in these programs.

Research

This article provides a contemporary report on the role of adipose tissue in respiratory dysfunction. Adipose tissue is distributed throughout the body, accumulating beneath the skin (subcutaneous), around organs (visceral), and importantly in the context of respiratory disease, has recently been shown to accumulate within the airway wall: "airway-associated adipose tissue." Excessive adipose tissue deposition compromises respiratory function and increases the severity of diseases such as asthma.

Research

A substantial body of literature points to the educational and social benefits of school breakfast programs. Most high-income countries provide free or subsidized school breakfasts to support disadvantaged children. Australia does not have a nationally-funded school meal program. Instead, charitable organizations offer school breakfast programs on a voluntary basis, often with funding support from state/territory governments.

Research

Research in psychopharmacology in children and adolescents is an area of growing interest with numerous newer modalities becoming available in recent years. Nevertheless, it still lags significantly behind research in adult psychopharmacology although, in the last decade, the gap is beginning to be bridged with FDA approval for newer agents for the paediatric age group.

Research

This prospective longitudinal study examined changes in milk sodium concentration (Na) and sodium:potassium ratio (Na:K), microbiological culture, milk production, and breast health in relation to mastitis after preterm birth.

Research

Determine if exercise interventions, beyond what is already provided to children and preschool children, improve bone health and reduce fracture incidence.