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Whole genome sequencing offers significant potential to improve the diagnosis and treatment of rare diseases by enabling the identification of thousands of rare, potentially pathogenic variants. Existing variant prioritisation tools can be complemented by approaches that incorporate phenotype specificity and provide contextual biological information, such as tissue or cell-type specificity.
Despite advances in immunotherapy, metastatic melanoma remains a considerable therapeutic challenge due to the complexity of the tumor microenvironment. Intratumoral type I interferon (IFN-I) has long been associated with improved clinical outcomes. However, several IFN-I subtypes can also paradoxically promote tumor growth in some contexts.
Measuring exercise intensity for safety and to inform prescription in acute burn survivors, is challenging. This study aimed to assess the validity of adult patient end-of-workout rating of session perceived exertion (sRPE); and calculated training load (TL) (sRPE × session duration) as measures of exercise intensity. Secondly, the study aimed to compare clinician and patient perception of exercise effort during physiotherapist-led sessions.
Community Elders in Boorloo (Perth) identified early childhood education (ECE) as a priority area for Aboriginal children’s research. This is due to a lower number of Aboriginal children attending ECE programs compared to non-Aboriginal children. Attending ECE programs sets children up for school success and is an indicator for positive life outcomes in later life. Therefore, we sought to co-design and implement a program that encourages Aboriginal children and families to attend ECE programs, known as Moort Dandjoo Kaadadjiny.
The rising burden of mosquito-borne diseases in Europe extends beyond urban areas, encompassing rural and semi-urban regions near managed and natural wetlands evidenced by recent outbreaks of Usutu and West Nile viruses. While wetland management policies focus on biodiversity and ecosystem services, few studies explore the impact on mosquito vectors.
Collecting DNA samples from Australian families affected by diabetes.
This review supports the recommended use of palivizumab for reducing RSV-associated hospitalisation rates in premature babies born at gestational age <33 weeks.
The program was associated with a substantial decline in rotavirus attributable non-admitted AGE presentations to ED among children aged <5 years.
The association between parental smoking and risk of childhood acute lymphoblastic leukemia (ALL) was investigated
This paper describes the Australian Early Development Index, a developmental census conducted by the Australian Government across the entire population of...