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Equitable Expanded Carrier Screening Needs Indigenous Clinical and Population Genomic DataExpanded carrier screening (ECS) for recessive monogenic diseases requires prior knowledge of genomic variation, including DNA variants that cause disease. The composition of pathogenic variants differs greatly among human populations, but historically, research about monogenic diseases has focused mainly on people with European ancestry. By comparison, less is known about pathogenic DNA variants in people from other pa
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COPD-related modification to the airway epithelium permits intracellular residence of nontypeable haemophilus influenzaeOur findings indicate that COPD, cigarette smoke and macrolide antibiotics potentiate the susceptibility to persistent intracellular NTHi
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Durvalumab with first-line chemotherapy in previously untreated malignant pleural mesothelioma (DREAM): a multicentre, single-arm, phase 2 trial with a safety run-inThere is a strong unmet need to improve systemic therapy in mesothelioma. Chemotherapy with cisplatin and pemetrexed improves survival in malignant pleural mesothelioma, and immune checkpoint inhibitors are an emerging treatment in this disease. We aimed to evaluate the activity of durvalumab, an anti-PD-L1 antibody, given during and after first-line chemotherapy with cisplatin and pemetrexed in patients with advanced malignant pleural mesothelioma.
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Associations between biological and sociodemographic risks for developmental vulnerability in twins at age 5: a population data linkage study in Western AustraliaTo investigate the prevalence of, and associations between, prenatal and perinatal risk factors and developmental vulnerability in twins at age 5.
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Increase in Body Mass Index in Children With HIV, Switched to Tenofovir Alafenamide Fumarate or Dolutegravir Containing Antiretroviral RegimensRecent data indicate excessive weight gain in treatment-naive adults with HIV commenced on antiretroviral therapy (ART) regimens containing tenofovir alafenamide (TAF) or the integrase strand transfer inhibitors (INSTIs) dolutegravir (DTG) and bictegravir.
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Determinants of sleep problems in children with intellectual disabilityChildren with intellectual disabilities are more likely to experience sleep disorders of insomnia, excessive daytime sleepiness and sleep breathing disorders than typically developing children. The present study examined risk factors for these sleep disorders in 447 children (aged 5-18 years), diagnosed with an intellectual disability and comorbid autism spectrum disorder, cerebral palsy, Down syndrome or Rett syndrome. Primary caregivers reported on their child's sleep using the Sleep Disturbance Scale for Children (SDSC), as well as medical comorbidities and functional abilities.
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Searching for a technology-driven acute rheumatic fever test: the START study protocolThe absence of a diagnostic test for acute rheumatic fever (ARF) is a major impediment in managing this serious childhood condition. ARF is an autoimmune condition triggered by infection with group A Streptococcus.
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Outcomes for Australian children with relapsed/refractory acute lymphoblastic leukaemia treated with blinatumomabWe report on the Australian experience of blinatumomab for treatment of 24 children with relapsed/refractory precursor B-cell acute lymphoblastic leukaemia (B-ALL) and high-risk genetics, resulting in a minimal residual disease (MRD) response rate of 58%, 2-year progression-free survival (PFS) of 39% and 2-year overall survival of 63%. In total, 83% (n = 20/24) proceeded to haematopoietic stem cell transplant, directly after blinatumomab (n = 12) or following additional salvage therapy (n = 8).
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Structured review of primary interventions to reduce group A streptococcal infections, acute rheumatic fever and rheumatic heart diseaseRheumatic heart disease (RHD) is a large, preventable, global public health burden. In New Zealand (NZ), acute rheumatic fever (ARF) and RHD rates are highest for Māori and Pacific children. This structured review explores the evidence for primary prevention interventions to diagnose and effectively treat group A Streptococcus (GAS) pharyngitis and skin infections to reduce rates of ARF and RHD.
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Unlocking immune-mediated disease mechanisms with transcriptomicsThe transcriptome represents the entire set of RNA transcripts expressed in a cell, reflecting both the underlying genetic and epigenetic landscape and environmental influences, providing a comprehensive view of functional cellular states at any given time. Recent technological advances now enable the study of the transcriptome at the resolution of individual cells, providing exciting opportunities to characterise cellular and molecular events that underpin immune-medicated diseases.