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FDA Patient-Focused Drug Development Guidances: Considerations for Trial Readiness in Rare Developmental and Epileptic EncephalopathiesDevelopmental and epileptic encephalopathies (DEE) are rare, often monogenic neurodevelopmental conditions. Most affected individuals have refractory seizures. All have multiple severe impairments which can be as life-limiting as or more limiting than the seizures themselves. Mechanism- and gene-targeted therapies for these individually rare, genetic conditions hold hope for treatment, amelioration of disease expression, and even cure.Â
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Neuropsychological profiles of adolescents sentenced to detention in Western Australia with and without prenatal alcohol exposureYouth with prenatal alcohol exposure (PAE) are under-recognised in the justice system, warranting improved identification. This study aimed to compare neuropsychological profiles of adolescents, with and without PAE and identify neuropsychological tasks predictive of PAE-group membership. It was hypothesised that participants with PAE would score significantly lower on neuropsychological tests.
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Spatial codistribution of HIV, tuberculosis and malaria in EthiopiaHIV, tuberculosis (TB) and malaria are the three most important infectious diseases in Ethiopia, and sub-Saharan Africa. Understanding the spatial codistribution of these diseases is critical for designing geographically targeted and integrated disease control programmes. This study investigated the spatial overlap and drivers of HIV, TB and malaria prevalence in Ethiopia.
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Pertussis burden and acellular pertussis vaccine effectiveness in high risk childrenPertussis hospitalisation is more common among infants born prematurely, who have significant comorbidities, or are Indigenous, but acellular pertussis (aP) vaccine effectiveness (VE) estimates in these sub-groups are lacking. We measured aP VE by Indigenous status, and policy-relevant categories of prematurity and comorbidity, in a population-based Australian cohort.
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Common and Rare Genetic Variants That Could Contribute to Severe Otitis Media in an Australian Aboriginal PopulationOur goal was to identify genetic risk factors for severe otitis media (OM) in Aboriginal Australians.
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LUMOS - Low and Intermediate Grade Glioma Umbrella Study of Molecular Guided TherapieS at relapse: Protocol for a pilot studyIntroduction Grades 2 and 3 gliomas (G2/3 gliomas), when combined, are the second largest group of malignant brain tumours in adults. The outcomes for G2/3 gliomas at progression approach the dismal outcomes for glioblastoma (GBM), yet there is a paucity of trials for Australian patients with relapsed G2/3 gliomas compared with patients with GBM.
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PATZ1 fusions define a novel molecularly distinct neuroepithelial tumor entity with a broad histological spectrumLarge-scale molecular profiling studies in recent years have shown that central nervous system (CNS) tumors display a much greater heterogeneity in terms of molecularly distinct entities, cellular origins and genetic drivers than anticipated from histological assessment.
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Weighing the Risks of Perimyocarditis With the Benefits of SARS-CoV-2 mRNA Vaccination in AdolescentsChristopher Blyth MBBS (Hons) DCH FRACP FRCPA PhD Centre Head, Wesfarmers Centre of Vaccines and Infectious Diseases; Co-Head, Infectious Diseases
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Lung ultrasound and atelectasis—The devil is in the detailsBritta Regli-von Ungern-Sternberg AM FAHMS MD, PhD, DEAA, FANZA Chair of Paediatric anaesthesia, University of Western Australia; Consultant
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Pediatric and child health nursing: A three-phase research priority setting study in Western AustraliaPriority settings are important to plan and direct future research. The aim of this study was to identify the top ten pediatric and child health nursing research priorities from the perspectives of consumers, community, and healthcare professionals in Western Australia.