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Improving the detection of congenital syphilis: reviewing test utility and adherence to recommendationsWestern Australia (WA) has experienced a resurgence of congenital syphilis. Appropriate microbiology testing of the neonate is recommended to confirm infection, including syphilis immunoglobulin M (IgM), rapid plasma reagin (RPR) paired with a maternal sample, and polymerase chain reaction (PCR) on placenta and nasal swabs.
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The state-of-the-art of N-of-1 therapies and the IRDiRC N-of-1 development roadmapIn recent years, a small number of people with rare diseases caused by unique genetic variants have been treated with therapies developed specifically for them. This pioneering field of genetic N-of-1 therapies is evolving rapidly, giving hope for the individualized treatment of people living with very rare diseases.
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Young Children in Indonesia's Low-income Rural Communities: How are they doing and what do they need?This chapter describes the development of young children in a sample of poor rural communities across Indonesia.
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Environmental Risk Factors by Gender Associated With Attention-Deficit/Hyperactivity DisorderOur study investigates the maternal, pregnancy, and newborn risk factors by gender for children prescribed stimulant medication for treatment of ADHD in WA.
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What does the nature of the MECP2 mutation tell us about parental origin and recurrence risk in Rett syndrome?The MECP2 mutations occurring in the severe neurological disorder Rett syndrome are predominantly de novo, with rare familial cases. The aims of this study...
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Breastfeeding Duration and Residential Isolation amid Aboriginal Children in Western AustraliaThe objective of this study was to examine the factors that impact on breastfeeding duration among Western Australia Aboriginal children. We hypothesised...
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Maternal Use of Folic Acid and Other Supplements and Risk of Childhood Brain TumorsInterest in a possible protective effect of maternal vitamin use before or during pregnancy against childhood brain tumors (CBT) and other childhood cancers...
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Novel BRD4-NUT fusion isoforms increase the pathogenic complexity in NUT midline carcinomaThis study contributes to our understanding of the genetic diversity of NMC, an important step towards finding therapeutic targets for a disease that is...
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The current state of play of rodent models to study the role of vitamin D in UV-induced immunomodulationUltraviolet radiation (UVR) from sunlight is immunomodulatory and the main source of vitamin D for humans.
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Dietary patterns are associated with cognition among older people with mild cognitive impairmentThis study examined the cross-sectional association between dietary patterns & cognition in a sample of 249 people, 65-90 years, with mild cognitive impairment