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Research

Australian children living with rare diseases: experiences of diagnosis and perceived consequences of diagnostic delays

Parents of children living with rare chronic and complex diseases have called for better education and resourcing of health professionals

Research

High fractional exhaled nitric oxide and sputum eosinophils are associated with an increased risk of future virus-induced exacerbations: A prospective cohort study.

High fractional exhaled nitric oxide and sputum eosinophils are associated with an increased risk of future virus-induced exacerbations.

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A systematic review of the evidence that swimming pools improve health and wellbeing in remote Aboriginal communities in Australia

The benefits that swimming pools may bring to to ear and eye health in remote Aboriginal communities remains unresolved

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Validating the rett syndrome gross motor scale

The Rett Syndrome Gross Motor Scale could be an appropriate measure of gross motor skills in clinical practice and clinical trials

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Age at surgery and outcomes of an undescended testis

We investigated the prevalence of UDT and examined rates of surgery and age at surgery in an Australian population.

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Epigenetic modifications: Mechanisms of disease and biomarkers of food allergy

The rise in IgE-mediated food allergy in recent times is the likely result of gene-environment interactions mediated via epigenetic pathways.

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Long-term survival for infants born with orofacial clefts in Western Australia

Parents with a child diagnosed with an OFC ± additional minor anomalies only can be reassured that the OFC does not influence survival rates in infancy

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In vivo loss of tumorigenicity in a patient-derived orthotopic xenograft mouse model of ependymoma

Ependymomas (EPN) are the third most common malignant brain cancer in children. Treatment strategies for pediatric EPN have remained unchanged over recent decades, with 10-year survival rates stagnating at just 67% for children aged 0-14 years. Moreover, a proportion of patients who survive treatment often suffer long-term neurological side effects as a result of therapy. It is evident that there is a need for safer, more effective treatments for pediatric EPN patients.

Research

Data resource profile: the ORIGINS project databank: a collaborative data resource for investigating the developmental origins of health and disease

The ORIGINS Project (“ORIGINS”) is a longitudinal, population-level birth cohort with data and biosample collections that aim to facilitate research to reduce non-communicable diseases and encourage ‘a healthy start to life’. ORIGINS has gathered millions of datapoints and over 400,000 biosamples over 15 timepoints, antenatally through to five years of age, from mothers, non-birthing partners and the child, across four health and wellness domains.