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Research
FLI1 polymorphism affects susceptibility to cutaneous leishmaniasis in BrazilMapping murine genes controlling cutaneous leishmaniasis (CL) identified Fli1 as a candidate influencing resistance to L. major and enhanced wound healing.
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Restricted aeroallergen access to airway mucosal dendritic cells in vivo limits allergen-specificChronic innocuous aeroallergen exposure attenuates CD4+ T cell-mediated airways hyperresponsiveness in mice; however, the mechanism(s) remain unclear
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The relationship between MECP2 mutation type and health status and service use trajectories over time in a Rett syndrome populationThis study aimed to investigate the trajectories over time of health status and health service use in Rett syndrome by mutation...
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Bone mineral content and density in Rett syndrome and their contributing factorsThis study used densitometry to investigate the areal bone mineral density (aBMD) and bone mineral content (BMC) in an Australian Rett syndrome cohort...
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Variation over time in medical conditions and health service utilization of children with Down syndromeVariation over time in medical conditions and health service utilization of children with Down syndrome.
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Psychometric validation of the quality of life Inventory − Disability (QI-Disability) among patients with Lennox-Gastaut syndrome and Dravet syndromeTo evaluate the psychometric properties of the Quality of Life Inventory -Disability (QI-Disability) for individuals with Dravet syndrome (DS) or Lennox-Gastaut syndrome (LGS), two rare developmental and epileptic encephalopathy conditions.
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Global risk of selection and spread of Plasmodium falciparum histidine-rich protein 2 and 3 gene deletionsSince their first detection in 2010, Plasmodium falciparum malaria parasites lacking the P. falciparum histidine-rich protein 2 gene (pfhrp2) have been observed in 40 of 47 surveyed countries, as documented by the World Health Organization. These genetic deletions reduce detection by the most widely used rapid diagnostic tests, prompting three countries to switch to alternative diagnostics.
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Functional characterization of the MED12 p.Arg1138Trp variant in females: implications for neural development and disease mechanismSeven female individuals with multiple congenital anomalies, developmental delay and/or intellectual disability have been found to have a genetic variant of uncertain significance in the mediator complex subunit 12 gene. The functional consequence of this genetic variant in disease is undetermined, and insight into disease mechanism is required.
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Health behaviour change: Theories, progress, and recommendations for the next generation of physical activity researchAdaptive behaviour change is central to improving population health, yet poor adoption of health-enhancing behaviours contributes to noncommunicable diseases and so remains a global concern. Research on physical activity behaviour change has continued to expand and evolve since the turn of the millennium, guided by diverse theoretical approaches-from social cognitive theories, organismic dialectical approaches such as Self-Determination Theory, dual-process frameworks, and integrated practical models and taxonomies.
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ORIGINS: Nutritional Profile of Children Aged One Year in a Longitudinal Birth CohortDietary intake during the first year of life is a key determinant of a child's growth and development. ORIGINS is a longitudinal birth cohort study investigating factors that contribute to a 'healthy start to life' and the prevention of non-communicable diseases.