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        61-72 of 439 results for 'Rare disease'

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        Cardiometabolic disease risk markers are increased following burn injury in children

        Burn injury in children causes prolonged systemic effects on physiology and metabolism leading to increased morbidity and mortality, yet much remains undefined regarding the metabolic trajectory towards specific health outcomes. ...

        Research

        The complement system in systemic lupus erythematosus: An update

        Jonatan Leffler JL PhD Senior Research Officer jonatan.leffler@telethonkids.org.au Senior Research Officer Dr. Leffler got his PhD from Lund University in Sweden studying the autoimmune disease SLE. He has since moved to Perth and the Telethon Kids ...

        Research

        The Deep Genome Project.

        The Deep Genome Project—to deliver the functional biological annotation of all human orthologous genomic elements in mice ...

        Research

        We won't find what we don't look for: Identifying barriers and enablers of chronic wet cough in Aboriginal children

        Key barriers to effective management of chronic wet cough are limited training in chronic wet cough management combined with competing complexities ...

        Research

        Variation in treatment preferences of pulmonary exacerbations among Australian and New Zealand cystic fibrosis physicians

        Despite advances in cystic fibrosis (CF) management and survival, the optimal treatment of pulmonary exacerbations remains unclear. Understanding the variability in treatment approaches among physicians might help prioritise clinical uncertainties to address through clinical trials. ...

        Research

        Paediatric headbox as aerosol and droplet barrier

        High-flow nasal oxygen (HFNO) is frequently used in hospitals, producing droplets and aerosols that could transmit SARS-CoV-2. Our aim was to determine if a headbox could reduce droplet and aerosol transmission from patients requiring HFNO. ...

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        Respiratory follow-up to improve outcomes for Aboriginal children: twelve key steps

        Among Aboriginal children, the burden of acute respiratory tract infections (ALRIs) with consequent bronchiectasis post-hospitalisation is high. Clinical practice guidelines recommend medical follow-up one-month following discharge, which provides an opportunity to screen and manage persistent symptoms and may prevent bronchiectasis. ...

        Research

        Rare childhood diseases: how should we respond?

        Paradoxically, rare diseases are common, collectively affecting 6-10% of the population and have a huge impact on patients and families, health services,... ...

        Research

        An expanded phenotype centric benchmark of variant prioritisation tools

        Identifying the causal variant for diagnosis of genetic diseases is challenging when using next-generation sequencing approaches and variant prioritization tools can assist in this task. These tools provide in silico predictions of variant pathogenicity, however they are agnostic to the disease under study. We previously performed a disease-specific benchmark of 24 such tools to assess how they perform in different disease contexts. ...

        Research

        An introduction to clinical trial design

        This manuscript will give a brief overview of clinical trial design including the strengths and limitations of various approaches ...

        Research

        Zika: Is there an underlying genetic/epigenetic basis to microcephaly and eye damage due to congenital Zika virus infection?

        Jenefer Timo Blackwell Lassmann JM T BSc with First Class Honours, PhD, DSc, FMedSci, FAA BSc (Hons) MSc PhD Head, Genetics & Health Feilman Fellow; Program Head, Precision Health and Team Lead, Computational Biology Jenefer.Blackwell@ ...

        Research

        Rare childhood cancers—an increasing entity requiring the need for global consensus and collaboration

        Rare childhood cancers have not benefited to the same extent from the gains that have been made for their frequently occurring counterparts. ...

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