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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.
Make your very own unique microbiome using a range of textured items designed to be squeezed and squished.
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Supporting nutrition education in low socioeconomic schools in Western AustraliaSchool-based nutrition education (NE) has an important role in promoting healthy eating habits and helping prevent chronic diseases – particularly among disadvantaged children and youth who are more likely to experience poor diet quality.
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Short-term changes in frequencies of circulating leukocytes associated with narrowband UVB phototherapy in people with clinically isolated syndromeSince B cells are increasingly targeted by MS therapies, the effects of narrowband UVB phototherapy in people with MS should be investigated further
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Monogenic early-onset lymphoproliferation and autoimmunity: Natural history of STAT3 gain-of-function syndromeIn 2014, germline signal transducer and activator of transcription (STAT) 3 gain-of-function (GOF) mutations were first described to cause a novel multisystem disease of early-onset lymphoproliferation and autoimmunity.
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Two females with mutations in USP9X highlight the variable expressivity of the intellectual disability syndromeThe genetic causes of intellectual disability (ID) are heterogeneous and include both chromosomal and monogenic etiologies.
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Declining transition rates to psychotic disorder in "ultra-high risk" clients: Investigation of a dilution effectLater ultra-high risk psychosis cohorts presented with different clinical intake characteristics than earlier cohorts
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Efficacy of the human papillomavirus (HPV)-16/18 AS04-adjuvanted vaccine in women aged 15-25 yearsWe present further data on vaccine efficacy (VE) against HPV-16/18 in the total vaccinated cohort including women who may have been exposed to HPV-16/18...
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Randomised controlled trial analysing supplementation with 250 versus 500 units of vitamin D3, sun exposure and surrounding factors in breastfed infantsThe rate of non-compliance with vitamin D supplementation is as high as 45%. This is why randomised controlled trials are needed to analyse the response...
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How do high protein and/or high fat meals affect postprandial glycaemic control in children using intensive insulin therapy?Investigating the effect of fat and protein content of a standardised carbohydrate meal on the post-prandial glycaemic response in children with type 1 diabetes