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Realising the potential impact of artificial intelligence for rare diseases – A framework

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.

The usability and feasibility of a self-compassion chatbot (COMPASS) for youth living with type 1 diabetes

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. 

Microplastics Versus Microbiome: The Infantile Gut’s Battle for Health

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.

Access to Oral Healthcare in Individuals With Rett Syndrome: A Qualitative Study of Parent Perspectives

Intellectual and developmental disabilities (IDD) are varied in their nature and presentation. Barriers to oral healthcare are reported in studies of general populations with IDD but these may not reflect the barriers experienced by individuals with rare disorders such as Rett syndrome.

Natural disasters and the demand for health insurance

Amidst growing concerns over heightened natural disaster risks, this study pioneers an inquiry into the causal impacts of cyclones on the demand for private health insurance in Australia. We amalgamate a nationally representative longitudinal dataset with historical cyclone records, employing an individual fixed effects model to assess the impacts of various exogenously determined cyclone exposure measures.

Partial amelioration of a chronic cigarette-smoke-induced phenotype in mice by switching to electronic cigarettes

Electronic cigarettes ("e-cigarettes") are often marketed as smoking cessation tools and are used by smokers to reduce/quit cigarette smoking. The objective of this study was to assess the health effects of switching to e-cigarettes after long-term smoking in a mouse model and compare these effects with continued smoking, or quitting entirely. 

Chewing gum to treat postoperative nausea and vomiting in female patients: a multicenter randomized trial

Postoperative nausea and vomiting is common after general anesthesia, with consequences for patient outcomes, satisfaction with care, and healthcare costs. The aim was to compare a new treatment, chewing gum, with a widely used intravenous agent, ondansetron, to treat postoperative nausea and vomiting in female patients in the postanesthesia care unit.

Plasma Cortisol Levels in Infants With Respiratory Distress During Different Phases of Neonatal Transport: A Pilot Prospective Observational Before-After Study

The transport of sick newborn infants with respiratory distress leads to unwanted stress at time of physiological instability. There is dearth of studies to evaluate these stress levels. This pilot prospective observational before-after study aimed to evaluate the plasma cortisol levels (as surrogate marker of stress) in infants with respiratory distress during different phases of neonatal transport.

Pre-Post Intervention to Strengthen and Sustain the Paediatric ESCALATION System (The SPECS): Study Protocol

Promptly recognising changes in an acutely unwell child’s condition is fundamental to prevent tragic outcomes. Western Australian (WA) healthcare facilities used inconsistent and varied paediatric early warning systems. To improve care consistency, a standardised ESCALATION system, inclusive of family involvement and sepsis recognition, was developed.

Effect of integrating traditional and modern healthcare systems on tuberculosis case detection in Ethiopia: a cluster randomized controlled study

Low tuberculosis (TB) case detection remains a major challenge in achieving the End TB targets. New strategies that consider local contexts are needed in countries with high TB burdens like Ethiopia. This study examined the effect of integrating traditional and modern TB care to increase the TB case detection rate.