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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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Investigating associations between birth order and autism diagnostic phenotypesBirth order effects have been linked to variability in intelligence, educational attainment and sexual orientation. First- and later-born children have been linked to an increased likelihood of an Autism Spectrum Disorder (ASD) diagnosis, with a smaller body of evidence implicating decreases in cognitive functioning with increased birth order. The present study investigated the potential association between birth order and ASD diagnostic phenotypes in a large and representative population sample.
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Standardization of Spirometry 2019 Update. An Official American Thoracic Society and European Respiratory Society Technical StatementStandards and consensus recommendations are presented for manufacturers, clinicians, operators, and researchers
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The impact of pre-pregnancy body mass index and gestational weight gain on placental abruption risk: a systematic review and meta-analysisMothers that are underweight prior to or in early pregnancy are at a moderately increased risk of placental abruption
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“Our culture, how it is to be us” — Listening to Aboriginal women about on Country urban birthingThe Birthing on Noongar Boodjar project Aboriginal women's data represents four generations of women's stories, experiences and expressions of childbearing
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Family history of cancer and the risk of childhood brain tumors: a pooled analysis of the ESCALE and ESTELLE studies (SFCE)Our findings support the hypothesis of a familial susceptibility of childhood brain tumors, not due to being a known neurofibromatosis carrier
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Use of remote monitoring with continuous glucose monitoring in young children with Type 1 diabetes: the parents’ perspectiveParents of primary school children reported that using remote monitoring and continuous glucose monitoring was a mostly beneficial experience
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Propofol use in children with allergies to egg, peanut, soybean or other legumesWe conclude that genuine serious allergic reaction to propofol is rare and is not reliably predicted by a history of food allergy
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Nasal Cytokine Profiles of Patients Hospitalised with Respiratory Wheeze Associated with Rhinovirus CMedically attended RV-C-induced wheeze is characterised by a Th2 inflammatory pattern, independent of viral load
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If you think you can do it, that's confidence: If you do it that's competence-Where are we in pediatric anesthesia?Should we be practicing new procedures on children under our care in the absence of formal supervision, teaching, and assessment that prove we are competent to do so