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        97-108 of 439 results for 'Rare disease'

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        Insights into the possible role of IFNG and IFNGR1 in Kala-azar and Post Kala-azar Dermal Leishmaniasis in Sudanese patients

        Uniformly low expression of IFN and IFNGR1 in PKDL skin biopsies could explain parasite persistence ...

        Research

        Reference exome data for a Northern Brazilian population

        Exome sequencing is widely used in the diagnosis of rare genetic diseases and provides useful variant data for analysis of complex diseases. There is not always adequate population-specific reference data to assist in assigning a diagnostic variant to a specific clinical condition. ...

        Research

        Identifying pediatric lung disease: A comparison of forced oscillation technique outcomes

        These findings suggest the utility of specific FOT outcomes is dependent on the respiratory disease being assessed ...

        Research

        Implementation of a strategy to facilitate effective medical follow-up for Australian First Nations children hospitalised with lower respiratory tract infections: study protocol

        First Nations children hospitalised with acute lower respiratory infections (ALRIs) are at increased risk of future bronchiectasis (up to 15-19%) within 24-months post-hospitalisation. An identified predictive factor is persistent wet cough a month after hospitalisation and this is likely related to protracted bacterial bronchitis which can progress to bronchiectasis, if untreated. ...

        Research

        SeqNextGen: Translating NextGen Sequencing for the Diagnosis of Developmental Anomalies and Rare Diseases

        Jenefer Timo Carol Sarra Helen Vanessa Blackwell Lassmann Bower Jamieson Leonard Fear JM T C SE HM VF BSc with First Class Honours, PhD, DSc, FMedSci, FAA BSc (Hons) MSc PhD MBBS MSc PhD FAFPHM DLSHTM FPHA BSc (Hons) MSc PhD MBChB MPH BSc (Hons), ...

        Research

        Prevalence, clinical investigation, and management of gallbladder disease in Rett syndrome

        This study determined the prevalence of cholelithiasis and/or cholecystectomy in Rett syndrome, described gallbladder function in a clinical cohort, and... ...

        Research

        Measles

        Measles is a highly contagious infectious disease that can cause severe, long-term complications in children. ...

        Research

        CDKL5 deficiency disorder: clinical features, diagnosis, and management

        CDKL5 deficiency disorder (CDD) was first identified as a cause of human disease in 2004. Although initially considered a variant of Rett syndrome, CDD is now recognised as an independent disorder and classified as a developmental epileptic encephalopathy. ...

        Research

        Chronic wet cough in Aboriginal children: It's not just a cough

        Results highlight the need for a culturally appropriate information and education of the importance of chronic wet cough in children ...

        Research

        Conducting decolonizing research and practice with Australian First Nations to close the health gap

        The purpose of this paper is to highlight a perspective for decolonizing research with Australian First Nations and provide a framework for successful and sustained knowledge translation by drawing on the recent work conducted by a research group, in five remote communities in North-Western Australia. ...

        Research

        Integration of genetics and miRNA-target gene network identified disease biology implicated in tissue specificity

        Our result highlighted that miRNA-target gene network contributes to human disease genetics in a cell type-specific manner ...

        Research

        Current options in aerosolised drug therapy for children receiving respiratory support

        In this review, we explore current knowledge and provide guidance as to when and how the inhaled route may be of value when treating patients whose tracheas are intubated ...

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