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Research
A flexible computational pipeline for research analyses of unsolved clinical exome casesExome sequencing has enabled molecular diagnoses for rare disease patients but often with initial diagnostic rates of ~25-30%. Here we develop a robust computational pipeline to rank variants for reassessment of unsolved rare disease patients. A comprehensive web-based patient report is generated in which all deleterious variants can be filtered by gene, variant characteristics, OMIM disease and Phenolyzer scores, and all are annotated with an ACMG classification and links to ClinVar.
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Systems Biology Methods Applied to Blood and Tissue for a Comprehensive Analysis of Immune Response to Hepatitis B Vaccine in AdultsConventional vaccine design has been based on trial-and-error approaches, which have been generally successful. However, there have been some major failures in vaccine development and we still do not have highly effective licensed vaccines for tuberculosis, HIV, respiratory syncytial virus, and other major infections of global significance. Approaches at rational vaccine design have been limited by our understanding of the immune response to vaccination at the molecular level. Tools now exist to undertake in-depth analysis using systems biology approaches, but to be fully realized, studies are required in humans with intensive blood and tissue sampling.
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An observational study of the reactogenicity and immunogenicity of 13-valent pneumococcal conjugate vaccine in women of childbearing age in Papua New GuineaMaternal immunization with pneumococcal conjugate vaccine (PCV) may protect young infants in high-risk settings against the high risk of pneumococcal infections in early life. The aim of this study was to determine the safety and immunogenicity of 13-valent PCV (PCV13) in healthy women of childbearing age in PNG.
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Options and realities for trans and gender diverse young people receiving care in Australia's mental health system: findings from Trans PathwaysTrans and gender diverse young people experience mental health difficulties self-harm and suicidality at markedly higher rates than the general population, yet they often feel isolated from mental health services. There is little qualitative research on the experiences of trans and gender diverse young people accessing mental health support in Australia.
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High-Fiber Diet during Pregnancy Characterized by More Fruit and Vegetable ConsumptionHigh-Fiber Diet during Pregnancy Characterized by More Fruit and Vegetable ConsumptionHigher dietary fiber intakes during pregnancy may have the potential health benefits of increasing gut microbiome diversity, lowering the risk of glucose intolerance and pre-eclampsia, achieving appropriate gestational weight gain, and preventing constipation. In this observational cohort study, we have assessed the dietary fiber intakes of 804 women in late pregnancy, using a semi-quantitative food frequency questionnaire (SQ-FFQ). Overall, the median (interquartile range) dietary fiber intake was 24.1 (19.0-29.7) grams per day (g/day). Only 237/804 (29.5%) women met the recommended Adequate Intake (AI) of dietary fiber during pregnancy of 28 g/day.
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Development of a Self-Harm Monitoring System for VictoriaThe prevention of suicide and suicide-related behaviour are key policy priorities in Australia and internationally. The World Health Organization has recommended that member states develop self-harm surveillance systems as part of their suicide prevention efforts. This is also a priority under Australia's Fifth National Mental Health and Suicide Prevention Plan. The aim of this paper is to describe the development of a state-based self-harm monitoring system in Victoria, Australia. In this system, data on all self-harm presentations are collected from eight hospital emergency departments in Victoria. A natural language processing classifier that uses machine learning to identify episodes of self-harm is currently being developed.
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‘We do what we can as soon as we can’ Alcohol and Other Drug workforce perspectives on preventing and responding to prenatal alcohol exposureEvidence based strategies are needed to enhance the ability of the Alcohol and Other Drugs (AOD) sector to prevent prenatal alcohol exposure (PAE) and harms including Fetal Alcohol Spectrum Disorder (FASD). In Australia FASD prevention research has largely focused on primary care and child development sectors, while little research has been conducted with AOD services providing comprehensive support to high risk women.
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Respiratory outcomes among refinery workers exposed to inspirable alumina dust: A longitudinal study in Western AustraliaInformation is scarce about the occupational health effects of exposure to alumina dust. This study examines the respiratory effects of inspirable alumina dust exposure in alumina refineries.
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Preclinical Evaluation of Carfilzomib for Infant KMT2A-Rearranged Acute Lymphoblastic LeukemiaInfants with KMT2A-rearranged B-cell precursor acute lymphoblastic leukemia (ALL) have poor outcomes. There is an urgent need to identify novel agents to improve survival. Proteasome inhibition has emerged as a promising therapeutic strategy for several hematological malignancies. The aim of this study was to determine the preclinical efficacy of the selective proteasome inhibitor carfilzomib, for infants with KMT2A-rearranged ALL.
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COVID-19, children and schools: overlooked and at riskWe have closely followed the international literature about severe acute respiratory syndrome coronavirus 2 (SARS‐CoV‐2) transmission dynamics in children (aged 0–18 years).2 Evidence‐informed discussion about school attendance in the context of COVID‐19 is a high priority and this complex subject requires weighted expert review of the literature to accurately inform policy. As paediatricians and infectious diseases specialists, we wish to highlight important considerations when interpreting the available data.