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Research
X-exome sequencing of 405 unresolved families identifies seven novel intellectual disability genesSystematic sequencing of all X-chromosomal genes in patients with genetic evidence for X-chromosome locus involvement may resolve 58% of Fragile X-negative cases
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A comparison of activity, participation and quality of life in children with and without spastic diplegia cerebral palsyNew PageThe aim of this study wa to measure activity, participation and QoL in children with CP and to determine how these differ from a comparable group of...
Glycoprotein A as a biomarker of pulmonary infection and inflammation in children with cystic fibrosis Background: Serum Glycoprotein A (GlycA)
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Responsiveness of the human airway in vitro during deep inspiration and tidal oscillationIn healthy individuals, deep inspiration produces bronchodilation and reduced airway responsiveness, which may be a response of the airway wall to mechanical...
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Responsiveness of the human airway in vitro during deep inspiration and tidal oscillationThe aim of this study was to examine the in vitro response of isolated human airways to the dynamic mechanical stretch associated with normal breathing.
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Elemental carbon exposure and lung function in schoolchildren from Mexico CityThough exposure to air pollution has a detrimental effect on respiratory health, few studies have examined the association between elemental carbon exposure...
Manage procurement of services and the design, development & implementation of a web-based, integrated diabetes patient management system across WA
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Supporting Families ProjectProudly funded by a Telethon Trust Research Grant, the Supporting Families project started in 2024 with the aim of co-designing a new clinical pathway for children with early stage type 1 diabetes (T1D).
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Change in health outcomes for First Nations children with chronic wet cough: rationale and study protocol for a multi-centre implementation science studyIn children, chronic wet cough may be a sign of underlying lung disease, including protracted bacterial bronchitis (PBB) and bronchiectasis. Chronic (> 4 weeks in duration) wet cough (without indicators pointing to alternative causes) that responds to antibiotic treatment is diagnostic of PBB. Timely recognition and management of PBB can prevent disease progression to irreversible bronchiectasis with lifelong consequences. However, detection and management require timely health-seeking by carers and effective management by clinicians.
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A brief history of MECP2 duplication syndrome: 20-years of clinical understandingMECP2 duplication syndrome (MDS) is a rare, X-linked, neurodevelopmental disorder caused by a duplication of the methyl-CpG-binding protein 2 (MECP2) gene-a gene in which loss-of-function mutations lead to Rett syndrome (RTT). MDS has an estimated live birth prevalence in males of 1/150,000.