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Rare diseases (RD) are conditions affecting fewer than 1 in 2000 persons, with over 7000 largely genetic RDs affecting 3.5 %-5.9 % of the global population, or approximately 262.9–446.2 million people. The substantial healthcare burden and costs, such as the $1 trillion annual expense in the USA, highlight the urgent need for improved RD management. The International Rare Diseases Research Consortium (IRDiRC) addresses this need through global collaboration, aiming for timely and accurate diagnosis, development of 1000 new therapies, and methodologies to measure impact by 2027.
Although it is well established that youth with type 1 Diabetes (T1D) experience high rates of distress, current clinical care is often under-resourced and unable to provide sufficient or timely psychological support. The current study was designed to evaluate the safety, usability and feasibility of 'COMPASS,' a self-compassion chatbot intervention.
Gut microbiota play a critical role in long-term health by supporting metabolism, immune function, inflammation regulation, and neurological development via the gut–brain axis. Beneficial bacteria enhance gut integrity through short-chain fatty acid production, pathogen inhibition, and mucosal barrier support.
Historically, adolescent pregnancy has been conceptualized as an outcome of child marriage, but in Southeast Asia, the contexts and drivers of adolescent pregnancy are less well-understood. This study examines the relationship between adolescent pregnancy and child marriage and explores the drivers of pregnancy in Cambodia, Indonesia, Lao People's Democratic Republic and Malaysia among adolescents who have experienced pregnancy.
Japan recently experienced a record surge in streptococcal toxic shock syndrome. Our environmental surveillance study reveals that Streptococcus pyogenes persists seasonally, peaking in autumn and winter in rural Japan. The dominant emm1 M1UK sublineage and csrS mutations heighten virulence, highlighting the urgent need for targeted surveillance and interventions.
This research sought to describe a conceptual model of Aboriginal and Torres Strait Islander Community Controlled Health Organisation (ATSICCHO) primary health care, and the fundamental role ATSICCHOs exercise in addressing critical service gaps needed to achieve equitable outcomes for Aboriginal and Torres Strait Islander peoples.
Due to the ongoing impact of colonisation, Aboriginal and Torres Strait Islander people live with a greater burden of cardiovascular disease (CVD) than non-Indigenous Australians. Shared decision-making (SDM) is recognised as an essential component of person-centred care. However, there has been a lack of tools to support clinician communication and SDM to address CVD prevention in this important 'at-risk' population.
Background: Signs of clinical deterioration may appear differently in children with dark-coloured skin. How to assess children in this cohort is currently poorly defined. Aim: To explore available information on the assessment of clinical deterioration in children with dark-coloured skin and identify research deficits.
Autism genetics has historically attracted a substantial proportion of autism research funding internationally. However, more recently, several controversies centered on ethical conduct and lack of community consultation have emerged. This has triggered Autistic-led protests for the functional and meaningful inclusion of Autistic voices in the research design.
Monitoring the number of COVID-19 patients in hospital beds was a critical component of Australia's real-time surveillance strategy for the disease. From 2021 to 2023, we produced short-term forecasts of bed occupancy to support public health decision-making.