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Early detection of hearing loss for infants in Western Australia: Comparison to international benchmarksTo assess the degree to which timely audiological assessment of congenital hearing loss is achieved at our institution - Perth Children's Hospital, Western Australia, and to review cases which breached this timeframe in order to address barriers to timely assessment. The benchmark used to determine timely assessment is that set out by The Joint Committee on Infant Hearing (JCIH) in which diagnostic audiological testing occurs by three months of age for those who do not pass newborn hearing screening.
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The reliability of video otoscopy recordings and still images in the asynchronous diagnosis of middle-ear diseaseTo compare the asynchronous assessment of video otoscopic still images to recordings by an audiologist and ear, nose and throat surgeon (ENT) for diagnostic reliability and agreement in identifying middle-ear disease.
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Project earthrise: Proceedings of the ninth annual conference of in vivo planetary healthThe “Earthrise” photograph, taken on the 1968 Apollo 8 mission, became one of the most significant images of the 20th Century. It triggered a profound shift in environmental awareness and the potential for human unity—inspiring the first Earth Day in 1970. Taking inspiration from these events 50 years later, we initiated Project Earthrise at our 2020 annual conference of inVIVO Planetary Health.
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The Spectrum, Severity and Outcomes of Rheumatic Mitral Valve Disease in Pregnant Women in Australia and New ZealandRheumatic heart disease (RHD) poses significant perinatal risks. We aimed to describe the spectrum, severity and outcomes of rheumatic mitral valve disease in pregnancy in Australia and New Zealand.
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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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Consensus guidelines for improving patients' understanding of invasive fungal disease and related risk prevention in the haematology/oncology setting, 2021Patients with invasive fungal disease (IFD) are at significant risk of morbidity and mortality. A productive partnership between patients, their carers/families, and the multidisciplinary team managing the infection and any underlying conditions, is essential.
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The Development and Implementation of a Culturally Safe Survey for Measuring Knowledge, Attitudes and Values around FASD and Alcohol Use During Pregnancy in a Remote Australian Aboriginal Community SettingGlenn Martyn Pearson Symons BA (Education) PhD Candidate B.A. (Hons) PhD. Director of First Nations Strategy and Leadership; Head, First Nations
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Genetic counseling as preventive intervention: toward individual specification of transgenerational autism riskAlthough autism spectrum disorders (ASD) are among the most heritable of all neuropsychiatric syndromes, most affected children are born to unaffected parents. Recently, we reported an average increase of 3-5% over general population risk of ASD among offspring of adults who have first-degree relatives with ASD in a large epidemiologic family sample.
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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.