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"This is my boy's health! Talk straight to me!" perspectives on accessible and culturally safe care among Aboriginal and Torres Strait Islander patients of clinical genetics servicesAboriginal and Torres Strait Islander people do not enjoy equal access to specialist health services that adequately meet their needs. Clinical genetics services are at the vanguard of realising the health benefits of genomic medicine. As the field continues to expand in clinical utility and implementation, it is critical that Aboriginal and Torres Strait Islander people are able to participate and benefit equally to avoid further widening of the existing health gap. This is the first study to explore barriers to accessing clinical genetics services among Aboriginal and Torres Strait Islander people, which has been acknowledged as a key strategic priority in Australian genomic health policy.
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Veliparib Is an Effective Radiosensitizing Agent in a Preclinical Model of MedulloblastomaMedulloblastoma is the most common malignant childhood brain tumor, and 5-year overall survival rates are as low as 40% depending on molecular subtype, with new therapies critically important. As radiotherapy and chemotherapy act through the induction of DNA damage, the sensitization of cancer cells through the inhibition of DNA damage repair pathways is a potential therapeutic strategy.
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Otitis media guidelines for Australian Aboriginal and Torres Strait Islander children: summary of recommendationsThe 2001 Recommendations for clinical care guidelines on the management of otitis media in Aboriginal and Torres Islander populations were revised in 2010. This 2020 update by the Centre of Research Excellence in Ear and Hearing Health of Aboriginal and Torres Strait Islander Children used for the first time the Grading of Recommendations, Assessment, Development and Evaluation (GRADE) approach.
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Analysis of common genetic variation and rare CNVs in the Australian Autism BiobankAutism spectrum disorder (ASD) is a complex neurodevelopmental condition whose biological basis is yet to be elucidated. The Australian Autism Biobank (AAB) is an initiative of the Cooperative Research Centre for Living with Autism (Autism CRC) to establish an Australian resource of biospecimens, phenotypes and genomic data for research on autism.
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Clinical Implications of Minimal Residual Disease Detection in Infants With KMT2A-Rearranged Acute Lymphoblastic Leukemia Treated on the Interfant-06 ProtocolInfant acute lymphoblastic leukemia (ALL) is characterized by a high incidence of KMT2A gene rearrangements and poor outcome. We evaluated the value of minimal residual disease (MRD) in infants with KMT2A-rearranged ALL treated within the Interfant-06 protocol, which compared lymphoid-style consolidation (protocol IB) versus myeloid-style consolidation (araC, daunorubicin, etoposide/mitoxantrone, araC, etoposide).
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Time spent outdoors in childhood is associated with reduced risk of myopia as an adultMyopia (near-sightedness) is an important public health issue. Spending more time outdoors can prevent myopia but the long-term association between this exposure and myopia has not been well characterised. We investigated the relationship between time spent outdoors in childhood, adolescence and young adulthood and risk of myopia in young adulthood. The Kidskin Young Adult Myopia Study (KYAMS) was a follow-up of the Kidskin Study, a sun exposure-intervention study of 1776 children aged 6-12 years.
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Two decades of increasing incidence of childhood-onset type 2 diabetes in Western Australia (2000–2019)This retrospective population‐based study aimed to determine the incidence of type 2 diabetes from 2012 to 2019 in Western Australian youth aged under 16 years, and to examine temporal trends between 2000 and 2019, using data from the Western Australian Children’s Diabetes Database (WACDD). The data extracted for eligible patients diagnosed with type 2 diabetes, according to standard criteria, included diagnosis year, age, sex and self‐reported Aboriginal or Torres Strait Islander status.
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Validation of a novel theory of mind measurement tool: The social robot video taskSocial communication difficulties in autism spectrum disorder have been associated with poor Theory of Mind (ToM), an ability to attribute mental states to others. Interventions using humanoid robots could improve ToM that may generalize to human-human interactions. Traditionally, ToM has been measured using the Firth-Happe Animations (FHA) task which depicts interactions between two animated triangles.
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ERS International Congress 2020 Virtual: highlights from the Allied Respiratory Professionals AssemblyThis article provides an overview of outstanding sessions that were (co)organised by the Allied Respiratory Professionals Assembly during the European Respiratory Society International Congress 2020, which this year assumed a virtual format. The content of the sessions was mainly targeted at allied respiratory professionals, including respiratory function technologists and scientists, physiotherapists, and nurses.
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Maternal diet, depression and antidepressant treatment in pregnancy and across the first 12 months postpartum in the MPEWS pregnancy cohort studyThere is increasing interest in the association between perinatal depression and diet including whether diet may have an impact on depressive symptoms and equally whether depression influences diet. Furthermore, whether pharmacological treatment of depression with antidepressant medication also may influence diet.