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        13-24 of 439 results for 'Rare disease'

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        The psychosocial impact of rare diseases among children and adolescents attending mainstream schools in Western Australia

        Living with a long-term medical condition is associated with heightened risk for mental health and psychosocial difficulties, but further research is required on this risk for children and adolescents with a rare disease in the educational setting. The aim of this study is to describe parents’ perceptions of the psychosocial impact of rare diseases on their school-aged children in Western Australia. ...

        Research

        Learning to make a difference for chILD: Value creation through network collaboration and team science

        Addressing the recognized challenges and inequalities in providing high quality healthcare for rare diseases such as children's interstitial lung disease (chILD) requires collaboration across institutional, geographical, discipline, and system boundaries. The Children's Interstitial Lung Disease Respiratory Network of Australia and New Zealand (chILDRANZ) is an example of a clinical network that brings together multidisciplinary health professionals for collaboration, peer learning, and advocacy with the goal of improving the diagnosis and management of this group of rare and ultra-rare conditions. ...

        Research

        Interstitial lung disease in infancy: A general approach

        Childhood Interstitial lung disease (chILD) is an umbrella term used to define a broad range of rare, diffuse pulmonary disorders with altered interstitial... ...

        Research

        The Undiagnosed Diseases Network International: Five years and more

        The Undiagnosed Diseases Network International was established with the major aims of providing diagnoses to patients ...

        Research

        SMART Work Design: Accelerating the Diagnosis of Rare Diseases in the Western Australian Undiagnosed Diseases Program

        The accurate and efficient diagnosis of rare diseases, many of which include congenital anomalies, depends largely on the specialists who diagnose them - including their ability to work alongside specialists from other fields and to take full advantage of cutting-edge precision medicine technologies and precision public health approaches. ...

        Research

        Spitz Melanoma of Childhood With A Novel Promoter Hijacking Anaplastic Lymphoma Kinase (C2orf42-ALK) Rearrangement

        We present the case of a prepubescent man of African descent who developed a spitzoid melanocytic proliferation showing evidence of a novel promoter hijacking ALK-C2orf42 rearrangement, with atypical histology, clinically apparent metastatic disease, and abnormal cytogenetic findings, representing a rare genuine case of "Spitz melanoma of childhood." ...

        Research

        Side effects of medications used to treat childhood interstitial lung disease

        Interstitial lung disease in children comprises a range of different rare diseases ...

        Research

        Inherited balanced translocation t(9;17)(q33.2;q25.3) concomitant with a 16p13.1

        We report two rare genetic aberrations in a schizophrenia patient that may act together to confer disease susceptibility ...

        Research

        FDA Patient-Focused Drug Development Guidances: Considerations for Trial Readiness in Rare Developmental and Epileptic Encephalopathies

        Developmental and epileptic encephalopathies (DEE) are rare, often monogenic neurodevelopmental conditions. Most affected individuals have refractory seizures. All have multiple severe impairments which can be as life-limiting as or more limiting than the seizures themselves. Mechanism- and gene-targeted therapies for these individually rare, genetic conditions hold hope for treatment, amelioration of disease expression, and even cure.  ...

        Research

        The collective impact of rare diseases in Western Australia: An estimate using a population-based cohort

        This cohort study provides new evidence of a disparity between the proportion of the population with rare diseases and their combined health-system costs ...

        Research

        Lung abscess: 14 years of experience in a tertiary paediatric hospital

        Lung abscess is a rare condition in paediatrics with a paucity of literature. Intravenous antibiotics is the main therapy; however interventional radiological approaches have led to the use of percutaneous drainage. Surgery is reserved for the management of complications. ...

        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 ...

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