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Research
Pushing the boundaries of rare disease diagnostics with the help of the first Undiagnosed HackathonTimo Lassmann BSc (Hons) MSc PhD Feilman Fellow; Head, Precision Health Research and Head, Computational Biology timo.lassmann@thekids.org.au
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Neurodivergence, intersectionality, and eating disorders: a lived experience-led narrative reviewAutistic people and those with attention deficit hyperactivity disorder are at a high risk of developing an eating disorder. While there is limited evidence on the relationship between other forms of neurodivergence and eating disorders, research suggests associations between giftedness, intellectual disability, obsessive-compulsive disorder, psychosis, Tourette's syndrome, and disordered eating.
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Caregivers' Perceptions of Clinical Symptoms, Disease Management, and Quality of Life Impact in Cases of Cyclin-Dependent Kinase-Like 5 Deficiency Disorder: Cross-Sectional Online SurveyCyclin-dependent kinase-like 5 (CDKL5) deficiency disorder (CDD) is an ultrarare genetic condition causing developmental epileptic encephalopathy characterized by seizures and motor and intellectual disabilities. No disease-modifying therapies are available, and treatments focus mainly on symptom management to improve quality of life.
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Age-related differences in trust beliefs during middle childhood: Downward-extension and validation of the general trust scaleThere are conflicting suggestions concerning the developmental trend of trust beliefs during middle childhood. Across three studies, the current research developed a brief measure of child general trust beliefs, as well as child measures of trust in peers and online, and examined age-related differences in these beliefs.
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Surveillance of avian influenza through bird guano in remote regions of the global south to uncover transmission dynamicsAvian influenza viruses (AIVs) pose a growing global health threat, particularly in low- and middle-income countries (LMICs), where limited surveillance capacity and under-resourced healthcare systems hinder timely detection and response. Migratory birds play a significant role in the transboundary spread of AIVs, yet data from key regions along migratory flyways remain sparse. To address these surveillance gaps, we conducted a study between December 2021 and February 2023 using fresh bird guano collected across 10 countries in the Global South.
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Study of tranexamic acid on post-tonsillectomy haemorrhage (STOP) pilot trialMatt Cooper BCA Marketing, BSc Statistics and Applied Statistics, PhD Manager, Biostatistics 08 6319 1723 matt.cooper@thekids.org.au Manager,
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Routine Emollient Therapy with Coconut Oil in Preterm Infants and Allergic Sensitization at 1-Year Corrected AgeSkin care for very and extremely preterm infant is an important and previously underappreciated topic. Coconut oil skin care for preterm infants is a promising option, but several important questions remain including the theoretical potential for allergic sensitization.
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MetaNeb Versus Usual Care During Exacerbations of Cystic Fibrosis: An RCTDuring exacerbations, when symptom and treatment burden are increased, individuals with cystic fibrosis (CF) are likely to prefer airway clearance techniques (ACTs) that require minimal effort. Therefore, in adults with CF who were hospitalised with an exacerbation, we sought to compare the effect of the MetaNeb with usual ACTs on respiratory function and expectorated sputum.
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Kaat koort: Study protocol for a pragmatic randomized controlled trial of a multifactorial, multidisciplinary Aboriginal Health Practitioner-led Aboriginal dementia prevention interventionLimited available data indicate that dementia prevalence rates among Aboriginal and Torres Strait Islander (hereafter Aboriginal) peoples are 3–5 times higher than the overall Australian population. Effective, pragmatic and scalable interventions are urgently required to address this disproportionate burden of dementia in Aboriginal populations.
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Exploring healthcare providers’ perspectives on the factors that facilitate primary health care access among Aboriginal and Torres Strait Islander young peopleAboriginal and Torres Strait Islander young people aged 15-24 years of age often encounter challenges accessing and utilising primary health care (PHC). Providing health care responsive to the needs of Aboriginal and Torres Strait Islander young people requires the active involvement of healthcare providers (HCPs), who play a central role in healthcare delivery. This study explored perspectives of HCPs working in urban Aboriginal and Torres Strait Islander Community-Controlled Health Organisations (ATSICCHOs) on the factors that facilitate Aboriginal and Torres Strait young people accessing and utilising PHC services.