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Copy number variation in tRNA isodecoder genes impairs mammalian development and balanced translationThe number of tRNA isodecoders has increased dramatically in mammals, but the specific molecular and physiological reasons for this expansion remain elusive. To address this fundamental question we used CRISPR editing to knockout the seven-membered phenylalanine tRNA gene family in mice, both individually and combinatorially.
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Gene filtering strategies for machine learning guided biomarker discovery using neonatal sepsis RNA-seq dataMachine learning (ML) algorithms are powerful tools that are increasingly being used for sepsis biomarker discovery in RNA-Seq data. RNA-Seq datasets contain multiple sources and types of noise (operator, technical and non-systematic) that may bias ML classification. Normalisation and independent gene filtering approaches described in RNA-Seq workflows account for some of this variability and are typically only targeted at differential expression analysis rather than ML applications.
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Modeling the potential health impact of prospective Strep A vaccinesThe World Health Organization published the preferred product characteristics for a Group A Streptococcus (Strep A) vaccine in 2018. Based on these parameters for the age of vaccination, vaccine efficacy, duration of protection from vaccine-derived immunity, and vaccination coverage, we developed a static cohort model to estimate the projected health impact of Strep A vaccination at the global, regional, and national levels and by country-income category.
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Clinical Trials in the Brain Tumour Population: Challenges and Strategies for the FutureThis review identifies challenges and barriers to successful development of drugs in neuro-oncology trials at the preclinical, clinical and translational stages that we believe has contributed to poor outcomes for patients over the last 30 years.
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Individual-Level Risk and Resilience Factors Associated with Mental Health in Siblings of Individuals with Neurodevelopmental Conditions: A Network AnalysisSiblings of individuals with neurodevelopmental conditions (NDCs) are exposed to unique family environments and experience a range of psychosocial risk and resilience factors.
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Harnessing neuroplasticity to improve motor performance in infants with cerebral palsy: A study protocol for the GAME randomised controlled trialCerebral palsy (CP) is the most common physical disability of childhood worldwide. Historically the diagnosis was made between 12 and 24 months, meaning data about effective early interventions to improve motor outcomes are scant. In high-income countries, two in three children will walk. This evaluator-blinded randomised controlled trial will investigate the efficacy of an early and sustained Goals-Activity-Motor Enrichment approach to improve motor and cognitive skills in infants with suspected or confirmed CP.
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Surgery for rheumatic heart disease in the Northern Territory, Australia, 1997-2016: what have we gained?Between 1964 and 1996, the 10-year survival of patients having valve replacement surgery for rheumatic heart disease (RHD) in the Northern Territory, Australia, was 68%. As medical care has evolved since then, this study aimed to determine whether there has been a corresponding improvement in survival.
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Young children's use of blue spaces and the impact on their health, development and environmental awareness: A qualitative study from parents' perspectivesThis study examined how families with young children access and use different types of blue spaces and the health and development benefits, and potential negative effects.
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Multi-ancestry genome-wide association analyses improve resolution of genes and pathways influencing lung function and chronic obstructive pulmonary disease riskLung-function impairment underlies chronic obstructive pulmonary disease (COPD) and predicts mortality. In the largest multi-ancestry genome-wide association meta-analysis of lung function to date, comprising 580,869 participants, we identified 1,020 independent association signals implicating 559 genes supported by ≥2 criteria from a systematic variant-to-gene mapping framework. These genes were enriched in 29 pathways. Individual variants showed heterogeneity across ancestries, age and smoking groups, and collectively as a genetic risk score showed strong association with COPD across ancestry groups.
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Association of Achieving Time in Range Clinical Targets With Treatment Modality Among Youths With Type 1 DiabetesContinuous glucose monitoring (CGM) devices have demonstrated efficacy in adults and more recently in youths and older adults with type 1 diabetes. In adults with type 1 diabetes, the use of real-time CGM compared with intermittently scanned CGM was associated with improved glycemic control, but there are limited data available for youths.