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        145-156 of 439 results for 'Rare disease'

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        Adapting a measure of gross motor skills for individuals with CDKL5 deficiency disorder: A psychometric study

        Validated measures capable of demonstrating meaningful interventional change in the CDKL5 deficiency disorder (CDD) are lacking. The study objective was to modify the Rett Syndrome Gross Motor Scale (RSGMS) and evaluate its psychometric properties for individuals with CDD. ...

        Research

        Rare case of spontaneous simultaneous extensive subcutaneous emphysema, bilateral pneumothoraces, pneumomediastinum and pneumorrhachis

        Nick Gottardo NG MBChB FRACP PhD Co-Head, Brain Tumour Research nicholas.gottardo@telethonkids.org.au Co-Head, Brain Tumour Research Professor Nick Gottardo co-leads the Brain Tumour Research Programme at the Telethon Kids Institute. He is also Head ...

        Research

        Evaluation of the implementation and clinical effects of an intervention to improve medical follow-up and health outcomes for Aboriginal children hospitalised with chest infections

        Aboriginal children hospitalised with acute lower respiratory infections (ALRIs) are at-risk of developing bronchiectasis, which can progress from untreated protracted bacterial bronchitis, often evidenced by a chronic (>4 weeks) wet cough following discharge. We aimed to facilitate follow-up for Aboriginal children hospitalised with ALRIs to provide optimal management and improve their respiratory health outcomes. ...

        Research

        Metabolomics to predict asthma in children (MAP Study)

        André Graham Ingrid Schultz Hall Laing AS GL IL MBChB, PhD, FRACP BAppSci PhD CRFS FANZSRS FThorSoc FERS BSc PhD Program Head, Respiratory Health RFA Honorary Research Associate Head, Children's Respiratory Science 6319 1828 Ingrid.laing@ ...

        Research

        Preferred health outcome states following treatment for pulmonary exacerbations of cystic fibrosis

        Treatment for pulmonary exacerbations of cystic fibrosis (CF) can produce a range of positive and negative outcomes. Understanding which of these outcomes are achievable and desirable to people affected by disease is critical to agreeing to goals of therapy and determining endpoints for trials. ...

        Research

        Confirmation of childhood acute lymphoblastic leukemia Variants, ARID5B and IKZF1, and interaction with parental environmental exposures

        The polygenic nature of childhood ALL predisposition together with the timing of environmental triggers may hold vital clues for disease etiology. ...

        Research

        Centre for Advanced Cancer Genomics (CACG)

        Timo Lassmann T BSc (Hons) MSc PhD Feilman Fellow; Program Head, Precision Health and Team Lead, Computational Biology timo.lassmann@telethonkids.org.au Feilman Fellow; Program Head, Precision Health and Team Lead, Computational Biology Timo ...

        Research

        Reference exome data for Australian Aboriginal populations to support health-based research

        Our data set provides a useful reference point for genomic studies on Aboriginal Australians ...

        Research

        BEAT-CF: Bayesian Evidence-Adaptive Tool to optimise management of Cystic Fibrosis

        Stephen André Stick Schultz SM AS MB BChir PhD MRCP FRACP MBChB, PhD, FRACP Head, P4 Respiratory Health for Kids Program Head, Respiratory Health RFA Head, P4 Respiratory Health for Kids Program Head, Respiratory Health RFA Areas for research ...

        Research

        Does machine learning have a role in the prediction of asthma in children?

        Asthma is the most common chronic lung disease in childhood. There has been a significant worldwide effort to develop tools/methods to identify children's risk for asthma as early as possible for preventative and early management strategies. Unfortunately, most childhood asthma prediction tools using conventional statistical models have modest accuracy, sensitivity, and positive predictive value. ...

        Research

        A Novel Missense Mutation Affecting the N-terminal Domain of SAP Protein in X-linked Lymphoproliferative Disease

        We have revealed a novel SH2D1A gene mutation in a patient with XLP resulting in fulminant refractory EBV-driven HLH, which is a recognized severe complication ...

        Research

        Improving lung health of Aboriginal children hospitalised with chest infections – Aboriginal Children’s Excellent (ACE) Lung Health Study

        Pamela André Matt Laird Schultz Cooper PL AS MC Pictured (left to right) are the team working on the ACE project in the Pilbara region Darcy Roe - senior physiotherapist at Hedland Health Campus Anggun Effendy - senior physiotherapist at Hedland ...

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