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Barriers and Considerations for Diagnosing Rare Diseases in Indigenous PopulationsAdvances in omics and specifically genomic technologies are increasingly transforming rare disease diagnosis. However, the benefits of these advances are disproportionately experienced within and between populations, with Indigenous populations frequently experiencing diagnostic and therapeutic inequities. The International Rare Disease Research Consortium (IRDiRC) multi-stakeholder partnership has been advancing toward the vision of all people living with a rare disease receiving an accurate diagnosis, care, and available therapy within 1 year of coming to medical attention. In order to further progress toward this vision, IRDiRC has created a taskforce to explore the access barriers to diagnosis of rare genetic diseases faced by Indigenous peoples, with a view of developing recommendations to overcome them.
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Assessing the impact of the 13 valent pneumococcal vaccine on childhood empyema in AustraliaEmpyema is a serious complication of pneumonia frequently caused by Streptococcus pneumoniae (SP). We assessed the impact of the 13-valent pneumococcal conjugate vaccine (13vPCV) on childhood pneumonia and empyema after inclusion in the Australian National Immunisation Program.
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Lessons from COVID-19: A reflection on the strengths and weakness of early consensus recommendations for pediatric difficult airway management during a respiratory viral pandemic using a modified Delphi methodThe authors recognized a gap in existing guidelines and convened a modified Delphi process to address novel issues in pediatric difficult airway management raised by the COVID-19 pandemic. The Pediatric Difficult Intubation Collaborative, a working group of the Society for Pediatric Anesthesia, assembled an international panel to reach consensus recommendations on pediatric difficult airway management during the COVID-19 pandemic using a modified Delphi method.
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Additional Insulin Is Required in Both the Early and Late Postprandial Periods for Meals High in Protein and Fat: A Randomized TrialThe pattern and quantity of insulin required for high-protein high-fat (HPHF) meals is not well understood. This study aimed to determine the amount and delivery pattern of insulin required to maintain euglycemia for 5 hours after consuming a HPHF meal compared with a low-protein low-fat (LPLF) meal.
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Streptolysins are the primary inflammasome activators in macrophages during Streptococcus pyogenes infectionGroup A Streptococcus (GAS) is a Gram-positive bacterial pathogen that causes an array of infectious diseases in humans. Accumulating clinical evidence suggests that proinflammatory interleukin (IL)-1beta signaling plays an important role in GAS disease progression.
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Cord-blood respiratory syncytial virus antibodies and respiratory health in first 5 years of lifeTo determine the potential longer-term effects of maternal antenatal respiratory syncytial virus (RSV) vaccination, we examined the association between cord-blood RSV-neutralizing antibodies (RSV-NA) and RSV infections in the first 2 years of life, RSV-NA at 3 years, and respiratory health to age 5 years.
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Cystic fibrosis clinical isolates of aspergillus fumigatus induce similar muco-inflammatory responses in primary airway epithelial cellsAspergillus is increasingly associated with lung inflammation and mucus plugging in early cystic fibrosis disease during which conidia burden is low and strains appear to be highly diverse. It is unknown whether clinical Aspergillus strains vary in their capacity to induce epithelial inflammation and mucus production.
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A cluster randomized trial of interferon ss-1a for the reduction of transmission of SARS-Cov-2: protocol for the Containing Coronavirus Disease 19 trial (ConCorD-19)SARS-CoV-2 infection rapidly spreads in populations due to the high rates of community transmission. Interrupting the shedding of SARS-CoV-2 may reduce the incidence of Coronavirus Disease 19 (COVID-19).
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Kindy Moves: a protocol for establishing the feasibility of an activity-based intervention on goal attainment and motor capacity delivered within an interdisciplinary framework for preschool aged children with cerebral palsyPreschool aged children with cerebral palsy (CP) and like conditions are at risk of performing below their peers in key skill areas of school readiness. Kindy Moves was developed to support school readiness in preschool aged children with CP and like conditions that are dependent on physical assistance and equipment throughout the day. The primary aims are to determine the feasibility of motor-based interventions that are functional and goal directed, adequately dosed and embedded into a play environment with interdisciplinary support to optimise goal-driven outcomes.
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The development of aboriginal brain injury coordinator positions: A culturally secure rehabilitation service initiative as part of a clinical trialBrain injury, resulting from stroke and traumatic brain injury, is a common occurrence in Australia, with Aboriginal people affected at a significant rate and impact felt by individuals, families and communities. Access to brain injury rehabilitation services for Aboriginal people is reported to be often limited, with very little support outside the hospital environment.