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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. 

Unpacking the “black box” of safe respiratory physiotherapy interventions delivered in the home for children with cerebral palsy and medical complexity

Describe the physiotherapy interventions provided to children with cerebral palsy at risk of respiratory illness and determine criteria for safe in-home treatment.

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.

Prevalence of attention deficit hyperactivity disorder/hyperkinetic disorder of pediatric and adult populations in clinical settings: a systematic review, meta-analysis and meta-regression

Attention-Deficit/Hyperactivity Disorder (ADHD)/Hyperkinetic Disorder (HD) is linked to increased risks of morbidity, comorbidity and mortality, with higher prevalence in clinical populations. The differential prevalence of ADHD/HD across adult and pediatric clinical populations, influenced by factors such as time trends, sex, age, geographic regions, and comorbidities, has not been systematically assessed.

Local progress towards achieving the End TB targets in Ethiopia: A geospatial analysis

Country-level estimates can mask local geographic variations in progress toward achieving World Health Organization's End TB targets. This study aimed to identify spatial variations in progress toward achieving the TB incidence reduction target at a district level in Ethiopia.

Streptococcus pyogenes Surveillance Through Surface Swab Samples to Track the Emergence of Streptococcal Toxic Shock Syndrome in Rural Japan

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.

Evaluation of the Acceptability and Feasibility of the Social Attention and Communication Surveillance-Revised (SACS-R) Tool for Early Identification of Autism in Preterm Infants

Preterm birth is associated with a 3.3-fold increased likelihood of autism diagnosis, with lower gestational age conferring higher likelihood. In Australia, autism is typically diagnosed at around age four, potentially missing the optimal neuroplasticity window before age two. The Social Attention and Communication Surveillance-Revised (SACS-R) tool identifies early autism signs in children aged 11-30 months, enabling pre-emptive intervention.

“We Need Community-Centred, Strongly Ethical Genetic Research”: A Qualitative Investigation of Community Attitudes Toward Autism Genetics

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.

A modular approach to forecasting COVID-19 hospital bed occupancy

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.