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CDKL5 deficiency disorder: clinical features, diagnosis, and managementCDKL5 deficiency disorder (CDD) was first identified as a cause of human disease in 2004. Although initially considered a variant of Rett syndrome, CDD is now recognised as an independent disorder and classified as a developmental epileptic encephalopathy.
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Anesthetic Exposure During Childhood and Neurodevelopmental Outcomes: A Systematic Review and Meta-analysisClinical studies of neurodevelopmental outcomes after anesthetic exposure have evaluated a range of outcomes with mixed results.
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Exiting the Anthropocene: Achieving personal and planetary health in the 21st centuryPlanetary health provides a perspective of ecological interdependence that connects the health and vitality of individuals, communities, and Earth's natural systems. It includes the social, political, and economic ecosystems that influence both individuals and whole societies.
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Knowing your audience: Investigating stillbirth knowledge and perceptions in the general population to inform future public health campaignsThe prevalence of stillbirth in many high income countries like Australia has remained unchanged for over 30 years. The 2018 Australian government Senate Select Committee on Stillbirth Research and Education highlighted the need for a public health campaign to encourage public conversations and increase awareness.
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A mixed-methods evaluation of a health-promoting café located in a small health service in rural Victoria, AustraliaResidents of rural areas internationally typically experience chronic disease risk profiles worse than city dwellers. Poor diet, a key driver of chronic disease, has been associated with unhealthy food environments, and rural areas often experience limited access to healthy, fresh and affordable food.
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Potentially Pathogenic Organisms in Stools and Their Association With Acute Diarrheal Illness in Children Aged <2 YearsAcute diarrheal illness (ADI) causes a substantial disease burden in high-income countries. We investigated associations between potentially pathogenic organisms in stools and ADI by polymerase chain reaction (PCR) in Australian children aged <2 years.
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An evaluation of junior doctors’ experience in smoking cessation training in a rural mental health settingThe extent of lung hypoplasia impacts the survival and severity of Smoking prevalence remains high amongst people with mental illness, however, they are less likely to be screened for tobacco dependence and offered treatment to quit.
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An investigation of a novel broad autism phenotype: increased facial masculinity among parents of children on the autism spectrumThe broad autism phenotype commonly refers to sub-clinical levels of autistic-like behaviour and cognition presented in biological relatives of autistic people. In a recent study, we reported findings suggesting that the broad autism phenotype may also be expressed in facial morphology, specifically increased facial masculinity.
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Circulating Epithelial Cell Cytokines Are Associated With Early-Onset Atopic DermatitisDebbie Susan Palmer Prescott BSc BND PhD MBBS BMedSci PhD FRACP Head, Nutrition in Early Life Honorary Research Fellow debbie.palmer@uwa.edu.au
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Consensus guidelines for antifungal prophylaxis in haematological malignancy and haemopoietic stem cell transplantation, 2021Antifungal prophylaxis can reduce morbidity and mortality from invasive fungal disease (IFD). However, its use needs to be optimised and appropriately targeted to patients at highest risk to derive the most benefit. In addition to established risks for IFD, considerable recent progress in the treatment of malignancies has resulted in the development of new 'at-risk' groups.