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Abacavir inhibits but does not cause self-reactivity to HLA-B*57:01-restricted EBV specific T cell receptorsPre-existing pathogen-specific memory T cell responses can contribute to multiple adverse outcomes including autoimmunity and drug hypersensitivity. How the specificity of the T cell receptor (TCR) is subverted or seconded in many of these diseases remains unclear. Here, we apply abacavir hypersensitivity (AHS) as a model to address this question because the disease is linked to memory T cell responses and the HLA risk allele, HLA-B*57:01, and the initiating insult, abacavir, are known.
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Fatal Perinatal Mitochondrial Cardiac Failure Caused by Recurrent De Novo Duplications in the ATAD3 LocusIn about half of all patients with a suspected monogenic disease, genomic investigations fail to identify the diagnosis. A contributing factor is the difficulty with repetitive regions of the genome, such as those generated by segmental duplications. The ATAD3 locus is one such region, in which recessive deletions and dominant duplications have recently been reported to cause lethal perinatal mitochondrial diseases characterized by pontocerebellar hypoplasia or cardiomyopathy, respectively.
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“We are in this together”: Experiences of relationship satisfaction in couples raising a child with autism spectrum disorderCouples can be supported in these key areas to strengthen their relationship to serve as a source of resilience for families with a child with ASD
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Consumer and community involvement in health and medical research: evaluation by online survey of Australian training workshops for researchersThe effect that attending a consumer and community participation had on their awareness of and attitudes to consumer and community involvement
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Rheumatic heart disease: Tools for implementing programmesThis article discusses the World Health Organization program for monitoring & managing rheumatic heart disease.
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The AEDI: From Research to PolicyHere we summarise some recent research using the AEDI data and show how the Fraser Mustard Centre is using such research to help inform policy-makers.
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Absence of germline mutations in BAP1 in sporadic cases of malignant mesotheliomaMalignant mesothelioma (MM) is a uniformly fatal tumour caused predominantly by exposure to asbestos.
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Micronutrient intakes from food and supplements in Australian adolescentsWe assessed micronutrient intakes in adolescents to determine whether supplement use optimises intakes.
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Calcium and Vitamin D for obesity: review of randomized controlled trialsObesity often coexists with low calcium intake and vitamin D insufficiency.
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Changes in lung volume during spells in children with Tetralogy of Fallot under general anesthesiaTo describe the changes in end-expiratory lung volume and ventilation inhomogeneities during spells in three children with Tetralogy of Fallot.