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Realising the potential impact of artificial intelligence for rare diseases – A frameworkRare 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.
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The human milk microbiome is minimally associated with breastfeeding practicesThe human milk microbiome is dominated by typical oral and skin bacteria, suggesting that bacterial communities from the infant mouth and maternal skin contribute to the development of the human milk microbiome. It is postulated that breastfeeding characteristics, such as breastfeeding frequency and duration, could lead to different levels of exposure to oral and skin bacteria, and subsequently, altered bacterial profiles in human milk.
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Tumor site-directed A1R expression enhances CAR T cell function and improves efficacy against solid tumorsCitation: Sek K, Chen AXY, Cole T, Armitage JD, Tong J, ……… Waithman J, Parish IA, et al. Tumor site-directed A1R expression enhances CAR T cell
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The application of environmental health assessment strategies to detect Streptococcus pyogenes in Kimberley school classroomsChildren spend almost one-third of their waking hours at school. Streptococcus pyogenes (Strep A) is a common childhood bacterial infection that can progress to causing serious disease. We aimed to detect Strep A in classrooms by using environmental settle plates and swabbing of high-touch surfaces in two remote schools in the Kimberley, Western Australia.
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Costs of primary healthcare presentations and hospital admissions for scabies and related skin infections in Fiji, 2018–2019Scabies and related bacterial skin and soft tissue infections are highly prevalent in many tropical, low- and middle-income settings. These skin conditions contribute to higher healthcare costs and burdens on healthcare systems.
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Fine-grained Fidgety Movement Classification using Active LearningTypically developing infants, between the corrected age of 9-20 weeks, produce fidgety movements. These movements can be identified with the General Movement Assessment, but their identification requires trained professionals to conduct the assessment from video recordings.
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Psychomotor Vigilance Testing on Neonatal Transport: A Western Australian ExperienceThis study aimed to assess whether undertaking retrieval was associated with fatigue independent of sleep and circadian disruption. It also aimed to assess the feasibility of routinely measuring the psychomotor vigilance test on neonatal transport. Fatigue is associated with impaired clinician performance and safety.
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A near-complete genome of the uncultured Staphylococcus aureus phage COMBAT-CF_PAR1 isolated from the lungs of an infant with cystic fibrosisIn cystic fibrosis, bacteria–bacteriophage interaction in the lower airways is poorly understood. We present the near-complete genome of the uncultured Siphovirus-like bacteriophage, Staphylococcus aureus phage COMBAT-CF_PAR1, isolated from the lower airways. The genome spans 41,510 bp with 33.45% guanine–cytosine content and contains 65 open reading frames.
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Modeling the potential health impact of prospective Strep A vaccinesThe World Health Organization published the preferred product characteristics for a Group A Streptococcus (Strep A) vaccine in 2018. Based on these parameters for the age of vaccination, vaccine efficacy, duration of protection from vaccine-derived immunity, and vaccination coverage, we developed a static cohort model to estimate the projected health impact of Strep A vaccination at the global, regional, and national levels and by country-income category.
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Excess Mortality Among People With Rheumatic Heart Disease in AustraliaJonathan Carapetis AM AM MBBS FRACP FAFPHM PhD FAHMS Executive Director; Co-Head, Strep A Translation; Co-Founder of REACH 08 6319 1000 contact@