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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.
Describe the physiotherapy interventions provided to children with cerebral palsy at risk of respiratory illness and determine criteria for safe in-home treatment.
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.
Parents and caregivers often turn to the internet for information about their child's health and development. Research investigating content related to parenting on the world's most popular social media platform, TikTok, has not been conducted.
Young children are increasingly exposed to evolving screen technology. International guidelines recommend no screen use for children under the age of 2 years, due to the potential for detrimental effects on behaviour and development. However, evidence for these guidelines is limited by inadequate consideration of device-specific effects (TV and mobile phone/tablet computer), maternal screen use, confounders such as maternal mental health and importance of effect sizes.
Aim: To describe the real-world effects of trofinetide in individuals with Rett syndrome (RTT) using the 18-month follow-up analysis of the LOTUS study.
Paediatric patients continue to lack access to age-appropriate oral medicines for their treatment and have to depend on the off-label use of medicines approved for adults, which compromises dosing accuracy and exposes children to unpleasant bitterness.
Obstructive sleep apnoea (OSA) has been thought to increase the risk of respiratory depression from opioids. The primary aim of this study was to assess whether preoperative hypoxaemia by sleep study pulse oximetry imparts greater opioid sensitivity.
Phage therapy is a promising approach against multidrug-resistant infections, yet systemic administration can lead to incomplete cures. We investigated the distribution, immune responses, and efficacy of the therapeutic phage KPP10 delivered via intranasal or intraperitoneal routes in murine Pseudomonas aeruginosa lung infection models.