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Genotype–phenotype correlations and novel molecular insights into the DHX30-associated neurodevelopmental disordersWe aimed to define the clinical and variant spectrum and to provide novel molecular insights into the DHX30-associated neurodevelopmental disorder. Clinical and genetic data from affected individuals were collected through Facebook-based family support group, GeneMatcher, and our network of collaborators.
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The Development and Implementation of a Culturally Safe Survey for Measuring Knowledge, Attitudes and Values around FASD and Alcohol Use During Pregnancy in a Remote Australian Aboriginal Community SettingGlenn Martyn Pearson Symons BA (Education) PhD Candidate B.A. (Hons) PhD. Director of First Nations Strategy and Leadership; Head, First Nations
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Genetic counseling as preventive intervention: toward individual specification of transgenerational autism riskAlthough autism spectrum disorders (ASD) are among the most heritable of all neuropsychiatric syndromes, most affected children are born to unaffected parents. Recently, we reported an average increase of 3-5% over general population risk of ASD among offspring of adults who have first-degree relatives with ASD in a large epidemiologic family sample.
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Conducting decolonizing research and practice with Australian First Nations to close the health gapThe purpose of this paper is to highlight a perspective for decolonizing research with Australian First Nations and provide a framework for successful and sustained knowledge translation by drawing on the recent work conducted by a research group, in five remote communities in North-Western Australia.
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A world of inflammation: the need for ecological solutions that co-benefit people, place and planetThe ecology of the early environment - including microbial diversity, nutrition, nature, social interactions and the totality of exposures in the wider "exposome" - have life-long implications for all aspects of health and resilience. In particular, the emergence of "microbiome science" provides new evidence for vital relationships between biodiversity and health at every level.
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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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Antidiuretic hormone and the activation of glucose production during high intensity aerobic exerciseThis study aimed to investigate the role that antidiuretic hormone (ADH) may play in the activation of glucose production during high intensity aerobic exercise.
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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).