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        49-60 of 439 results for 'Rare disease'

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        Gastrointestinal dysmotility in rett syndrome

        Through evidence review and the consensus of an expert panel, we developed recommendations for the clinical management of gastroesophageal reflux disease,... ...

        Research

        Resourceful and creative methods are necessary to research rare disorders

        Our investigation used the infrastructure of InterRett, established in 2002 with dual aims of encour- aging international collaboration and ascertaining the... ...

        Research

        Recognition and Management of Protracted Bacterial Bronchitis in Australian Aboriginal Children: A Knowledge Translation Approach

        Chronic wet cough in children is the hallmark symptom of protracted bacterial bronchitis (PBB) and if left untreated can lead to bronchiectasis, which is prevalent in Indigenous populations. Underrecognition of chronic wet cough by parents and clinicians and underdiagnosis of PBB by clinicians are known. ...

        Research

        Cough in Children and Adults: Diagnosis, Assessment and Management (CICADA). Summary of an updated position statement on chronic cough in Australia

        Cough is the most common symptom leading to medical consultation. Chronic cough results in significant health care costs, impairs quality of life, and may indicate the presence of a serious underlying condition. Here, we present a summary of an updated position statement on cough management in the clinical consultation.  ...

        Research

        CrossTalk opposing view: Mucosal acidification does not drive early progressive lung disease in cystic fibrosis

        Whether airway mucosal acidification drives early progressive lung disease is controversial ...

        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

        Functional validation of variants of unknown significance using CRISPR gene editing and transcriptomics: A Kleefstra syndrome case study

        There are an estimated > 400 million people living with a rare disease globally, with genetic variants the cause of approximately 80% of cases. Next Generation Sequencing (NGS) rapidly identifies genetic variants however they are often of unknown significance. ...

        Research

        Development of an International Database for a Rare Genetic Disorder: The MECP2 Duplication Database (MDBase)

        The natural history of MECP2 duplication syndrome (MDS), a rare X-linked neurodevelopmental disorder with an estimated birth prevalence of 1/150,000 live births, is poorly understood due to a lack of clinical data collected for research. Such information is critical to the understanding of disease progression, therapeutic endpoints and outcome measures for clinical trials, as well as the development of therapies and orphan products. ...

        Research

        A brief history of MECP2 duplication syndrome: 20-years of clinical understanding

        MECP2 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. ...

        Research

        Women Diagnosed with Ovarian Cancer: Patient and Carer Experiences and Perspectives

        By directly engaging with women diagnosed with ovarian cancer, this study aimed to explore and identify their view of the health symptoms and outcomes that matter most to them as they traverse their disease pathway. ...

        Research

        The SPEC score—A quantifiable CT scoring system for primary ciliary dyskinesia

        Structural lung changes seen on computed tomography scans in persons with primary ciliary dyskinesia are currently described using cystic fibrosis derived scoring systems. Recent work has shown structural changes and frequencies that are unique to PCD, indicating the need for a unique PCD-derived scoring system. ...

        Research

        Frequency of protracted bacterial bronchitis and management pre-respiratory referral

        To determine the frequency of protracted bacterial bronchitis (PBB) in children referred to tertiary care with chronic cough and describe management prior to referral. A retrospective cohort study of all new patients with a history of ≥4 weeks of cough seen at the only tertiary paediatric outpatient respiratory service in Western Australia. ...

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