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Research

When investigating whether a variant identified by diagnostic genetic testing is causal for disease, applied genetics professionals evaluate all available evidence to assign a clinical classification. Functional assays of higher and higher throughput are increasingly being generated and, when appropriate, can provide strong functional evidence for or against pathogenicity in variant classification. Despite functional assay data representing unprecedented value for genomic diagnostics, challenges remain around the application of functional evidence in variant curation.

Research

The increasing prevalence of multidrug-resistant Acinetobacter baumannii as an opportunistic pathogen in wound infections raises significant concerns due to its antibiotic resistance and biofilm-mediated antibiotic tolerance. This underscores the urgent need to explore an alternative approach to effectively managing wound infections caused by MDR A. baumannii.

Research

Describe the physiotherapy interventions provided to children with cerebral palsy at risk of respiratory illness and determine criteria for safe in-home treatment.

Research

Otitis media has a high prevalence in childhood, and grommet insertion is the most common surgical treatment for OM. The public health system in Australia faces considerable strains, including high demand for Ear, Nose and Throat specialists. Extending the scope of practice for audiologists to manage post-operative care for children receiving grommets has the potential to alleviate this burden.

Research

Data on static compliance of the chest wall (Ccw) in preterm infants are scarce. We characterized the static compliance of the lung and Ccw to determine their relative contribution to static compliance of the respiratory system in very preterm infants at 36 wk postmenstrual age. We also aimed to investigate how these compliances were influenced by the presence of bronchopulmonary dysplasia and impacted breathing variables.

Research

Iron deficiency (ID) is the most common nutritional deficiency affecting young children. Serum ferritin concentration is the preferred biomarker for measuring iron status because it reflects iron stores; however, blood collection can be distressing for young children and can be logistically difficult. A noninvasive means to measure iron status would be attractive to either diagnose or screen for ID in young children.

Research

Emotional labour is the process by which people regulate emotions congruently with occupational requirements. Research consistently links emotional labour to greater levels of burnout. However, we argue this literature is potentially confounded by measurement error.

Research

Siblings of individuals with neurodevelopmental conditions (NDCs) experience distinct challenges and have unique strengths compared to siblings of individuals without NDCs.

Research

Neonatal sepsis is associated with significant mortality and morbidity. Low-middle-income countries are disproportionately affected, but late-onset sepsis still occurs in up to 20% of infants <28 weeks in high-income countries. Understanding site-specific data is vital to guide management. 

Research

Regular, detailed reporting on population health by underlying cause of death is fundamental for public health decision making. Cause-specific estimates of mortality and the subsequent effects on life expectancy worldwide are valuable metrics to gauge progress in reducing mortality rates. These estimates are particularly important following large-scale mortality spikes, such as the COVID-19 pandemic. When systematically analysed, mortality rates and life expectancy allow comparisons of the consequences of causes of death globally and over time, providing a nuanced understanding of the effect of these causes on global populations.