Publications by authors named "Yarlalu Thomas"

Precision public healthcare has been applied to bring about positive change, narrowing the gap in healthcare inequity for Aboriginal peoples. Three such examples include the Mappa, Lyfe Languages, and Pilbra Faces projects, which were all developed through engagement and codesign with Indigenous Australians and each meet a distinct critical need. The Mappa project offers patients and healthcare providers with the necessary geographical information to navigate and maximally utilize available healthcare services.

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Article Synopsis
  • Achieving a proper diagnosis for Indigenous individuals with rare genetic diseases is essential for fair healthcare access.
  • The International Rare Disease Research Consortium has created a global Task Force aimed at addressing the challenges in diagnosing these rare diseases among Indigenous populations.
  • The initiative focuses on finding solutions to improve health equity for Indigenous communities dealing with these illnesses.
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Introduction: The objective of this study was to explore the demographic characteristics, disease specifics and outcomes of adult patients with suspected sepsis presenting to a remote Australian emergency department (ED). A retrospective, uninterrupted time series audit of ED patients presenting with suspected sepsis was conducted. A total of 189 remote presentations were reviewed based on the time of clinician identification of sepsis.

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Aim: To describe the birth prevalence and characteristics of congenital heart defects in a geographically defined Australian population.

Methods: This descriptive, population-based study examined congenital heart defects in live births, stillbirths and pregnancy terminations ascertained by the Western Australian Register of Developmental Anomalies, 1990-2016. Birth prevalence (per 1000 births) was stratified by severity, known cause, maternal and birth characteristics, and primary diagnosis; and prevalence ratios were calculated for Aboriginal versus non-Aboriginal births.

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Advances in omics and specifically genomic technologies are increasingly transforming rare disease diagnosis. However, the benefits of these advances are disproportionately experienced within and between populations, with Indigenous populations frequently experiencing diagnostic and therapeutic inequities. The International Rare Disease Research Consortium (IRDiRC) multi-stakeholder partnership has been advancing toward the vision of all people living with a rare disease receiving an accurate diagnosis, care, and available therapy within 1 year of coming to medical attention.

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Article Synopsis
  • The Human Phenotype Ontology (HPO) was established in 2008 to standardize the description and analysis of phenotypic abnormalities in human diseases, and has become a global reference for phenotype data.
  • Recent updates to the HPO include expansions in various medical fields, with improvements such as the seizure subontology aligning with international epilepsy guidelines, demonstrating their clinical validity.
  • Ongoing efforts focus on harmonizing phenotypic definitions across the HPO and other ontologies, enhancing computational tools for cross-species disease research, and translating the HPO into indigenous languages for broader accessibility.
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