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The effect of CFTR modulators on structural lung disease in cystic fibrosis

Newly developed quantitative chest computed tomography (CT) outcomes designed specifically to assess structural abnormalities related to cystic fibrosis (CF) lung disease are now available. CFTR modulators potentially can reduce some structural lung abnormalities. We aimed to investigate the effect of CFTR modulators on structural lung disease progression using different quantitative CT analysis methods specific for people with CF (PwCF).

Copy number variation in tRNA isodecoder genes impairs mammalian development and balanced translation

The 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.

Gene filtering strategies for machine learning guided biomarker discovery using neonatal sepsis RNA-seq data

Machine 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.

Gene dysregulation in acute HIV-1 infection – early transcriptomic analysis reveals the crucial biological functions affected

Transcriptomic analyses from early human immunodeficiency virus (HIV) infection have the potential to reveal how HIV causes widespread and lasting damage to biological functions, especially in the immune system. Previous studies have been limited by difficulties in obtaining early specimens.

The ORIGINS Project Biobank: A Collaborative Bio Resource for Investigating the Developmental Origins of Health and Disease

Early onset Non-Communicable Diseases (NCDs), including obesity, allergies, and mental ill-health in childhood, present a serious and increasing threat to lifelong health and longevity. The ORIGINS Project (ORIGINS) addresses the urgent need for multidisciplinary efforts to understand the detrimental multisystem impacts of modern environments using well-curated large-scale longitudinal biological sample collections.

Genotype and sleep independently predict mental health in Rett syndrome: An observational study

Rett syndrome is a genetically caused neurodevelopmental disorder associated with severe impairments and complex comorbidities. This study examined predictors of anxiety and depression in Rett syndrome, including genotype.

Powerful promotions: An investigation of the teen-directed marketing power of outdoor food advertisements located near schools in Australia

Adolescents are heavily exposed to unhealthy outdoor food advertisements near schools, however, the marketing power of these advertisements among adolescents has not yet been explored. This study aimed to investigate the teen-directed marketing features present and quantify the overall marketing power of outdoor food advertisements located near schools to explore any differences by content (ie, alcohol, discretionary, core and miscellaneous foods) school type (ie, primary, secondary, K-12) and area-level socio-economic status (SES; ie, low vs high).

Movement behavior policies in the early childhood education and care setting: An international scoping review

Meeting 24-h movement behavior guidelines for the early years is associated with better health and development outcomes in young children. Early childhood education and care (ECEC) is a key intervention setting however little is known about the content and implementation of movement behavior polices in this context. To inform policy development this international scoping review examined the prevalence, content, development and implementation of ECEC-specific movement behavior policies.