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        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

        Understanding group A streptococcal pharyngitis and skin infections as causes of rheumatic fever: Protocol for a prospective disease incidence study

        This study will identify the incidence of true Group A Streptococcal pharyngitis and serological responses to Group A Streptococcal GAS skin infections ...

        Research

        RD-RAP: Beyond rare disease patient registries, devising a comprehensive data and analytic framework

        We introduce and describe the concept of a Rare Disease Registry and Analytics Platform ...

        Research

        Addressing Race in Pulmonary Function Testing by Aligning Intent and Evidence With Practice and Perception

        The practice of using race or ethnicity in medicine to explain differences between individuals is being called into question because it may contribute to biased medical care and research that perpetuates health disparities and structural racism. ...

        Research

        Cohort description: Measures of early-life behaviour and later psychopathology in the LifeCycle Project - EU Child Cohort Network

        The EU LifeCycle Project was launched in 2017 to combine, harmonise, and analyse data from more than 250,000 participants across Europe and Australia, involving cohorts participating in the EU-funded LifeCycle Project. The purpose of this cohort description is to provide a detailed overview over the major measures within mental health domains that are available in 17 European and Australian cohorts participating in the LifeCycle Project. ...

        Research

        Women with type 1 diabetes exhibit a progressive increase in gut Saccharomyces cerevisiae in pregnancy associated with evidence of gut inflammation

        Studies of the gut microbiome have focused on its bacterial composition. We aimed to characterize the gut fungal microbiome (mycobiome) across pregnancy in women with and without type 1 diabetes. ...

        Research

        Global distribution of human hookworm species and differences in their morbidity effects: a systematic review

        The global distribution and morbidity effects for each specific hookworm species is unknown, which prevents implementation of the optimum intervention for local hookworm control. ...

        Research

        Staying moving, staying strong: Protocol for developing culturally appropriate information for Aboriginal people with osteoarthritis, rheumatoid arthritis, lupus and gout

        Addressing disparities in arthritis care is an important yet unmet health need for Aboriginal and Torres Strait Islander people in Australia (respectfully Aboriginal people herewith). Despite the significant prevalence and burden of arthritis within Aboriginal communities, access to care for arthritis is low. ...

        Research

        Childhood Systemic Lupus Erythematosus: Presentation, management and long-term outcomes in an Australian cohort

        Systemic Lupus Erythematosus (SLE) is a serious autoimmune disease often resulting in major end-organ damage and increased mortality. Currently, no data exists focussing on the presentation, long-term management and progression of SLE in the Australian paediatric population. ...

        Research

        Immune checkpoint inhibitor therapy for malignant pleural mesothelioma

        Mesothelioma is a rare and universally fatal cancer linked to exposure to asbestos. Until recently, standard of care treatment was chemotherapy; a treatment resulting in a minimal survival extension, and not improved upon for almost twenty years. However, the advent of cancer immunotherapy – and in particular the immune checkpoint inhibitor class of drugs - has resulted in recently approved new treatment options, with more currently under investigation. ...

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