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The Human Phenotype Ontology was launched in 2008 to provide a comprehensive logical standard to describe and computationally analyze phenotypic abnormalities found in human disease. The HPO is now a worldwide standard for phenotype exchange. The HPO has grown steadily since its inception due to considerable contributions from clinical experts and researchers from a diverse range of disciplines. Here, we present recent major extensions of the HPO for neurology, nephrology, immunology, pulmonology, newborn screening, and other areas.

Research

Parainfluenza viruses are significant contributors to childhood respiratory illness worldwide, although detailed epidemiological studies are lacking. Few recent Australian studies have investigated serotype-specific PIV epidemiology, and there is a paucity of southern hemisphere PIV reports. We report age-stratified PIV hospitalisation rates and a mathematical model of PIV seasonality and dynamics in Western Australia (WA).

Research

Children with medulloblastoma and ependymoma are treated with a multidisciplinary approach that incorporates surgery, radiotherapy, and chemotherapy; however, overall survival rates for patients with high-risk disease remain unsatisfactory. Data indicate that plant-derived cannabinoids are effective against adult glioblastoma; however, preclinical evidence supporting their use in pediatric brain cancers is lacking. Here we investigated the potential role for Δ9-tetrahydrocannabinol (THC) and cannabidiol (CBD) in medulloblastoma and ependymoma. Dose-dependent cytotoxicity of medulloblastoma and ependymoma cells was induced by THC and CBD in vitro, and a synergistic reduction in viability was observed when both drugs were combined.

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Hypoactive delirium is present when an awake child is unaware of his or her surroundings, is unable to focus attention, and appears quiet and withdrawn. This condition has been well-described in the intensive care setting but has not been extensively studied in the immediate post-anesthetic period. The aim was to determine if hypoactive emergence delirium occurs in the recovery unit of a pediatric hospital, and if so, what proportion of emergence delirium is hypoactive in nature.

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Playgroups are widely used throughout the Australian community yet understanding of their efficacy is hindered by inconsistent playgroup definitions and practice principles. This study aimed to develop, implement and evaluate the feasibility of a manualised therapeutic playgroup for children with developmental delay and their families using a three step process.

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This chapter outlines the evidence and evolution of RHD control programs and draws conclusions about priorities following the 2018 World Health Organization Global Resolution on rheumatic fever and RHD.

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The recent announcement of the negative results of the TIGER- 2 phase 3 study of denufosol tetrasodium

Research

Increased numbers of children presenting with febrile adverse events following trivalent influenza vaccine (TIV) were noted in Australia in 2010.

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Cyclin-dependent kinase-like 5 (CDKL5) gene pathogenic variants result in CDKL5 deficiency disorder (CDD). Early onset intractable epilepsy and severe developmental delays are prominent symptoms of CDD. Comorbid sleep disturbances are a major concerning symptom for families.

Research

After a first alcohol-related hospitalisation in youth, subsequent hospitalisations may demonstrate an increased risk of further alcohol-related hospitalisations, but there is no existing data on this.