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Previous genome-wide association studies revealed multiple common variants involved in eczema but the role of rare variants remains to be elucidated. Here, we investigate the role of rare variants in eczema susceptibility. We meta-analyze 21 study populations including 20,016 eczema cases and 380,433 controls. Rare variants are imputed with high accuracy using large population-based reference panels.
Transcription of the human mitochondrial genome and correct processing of the two long polycistronic transcripts are crucial for oxidative phosphorylation. According to the tRNA punctuation model, nucleolytic processing of these large precursor transcripts occurs mainly through the excision of the tRNAs that flank most rRNAs and mRNAs.
Neonatal sepsis is a leading cause of infant mortality worldwide with non-specific and varied presentation. We aimed to catalogue the current definitions of neonatal sepsis in published randomised controlled trials.
This review reports on methods used to evaluate airway clearance techniques (ACT) in adults with CF and examined data for evidence of any effect. Sixty-eight studies described ACT in adequate detail and were included in this review.
Limited research exists on the pathways through which physical activity influences cognitive development in the early years. This study examined the direct and indirect relationships between physical activity, self-regulation, and cognitive school readiness in preschool children.
Jeffrey Jonathan Judy Cannon Carapetis AM Katzenellenbogen BSc(Hons) BBus PhD AM MBBS FRACP FAFPHM PhD FAHMS BSc (Occ Ther) BSc Hons (Epidemiol) MSc
Documentation of patterns and long-term trends in mortality in young people, which reflect huge changes in demographic and social determinants of adolescent health, enables identification of global investment priorities for this age group. We aimed to analyse data on the number of deaths, years of life lost, and mortality rates by sex and age group in people aged 10-24 years in 204 countries and territories from 1950 to 2019 by use of estimates from the Global Burden of Diseases, Injuries, and Risk Factors Study (GBD) 2019.
Children have a universal right to live free from exposure to family and domestic violence (FDV). Children exposed to FDV can experience long-term effects on their physical and psychological health and their social competencies including social, emotional, and cognitive skills and behaviours that underpin successful social adaptation and academic achievement. The aim of this study was to investigate if children exposed to FDV were more likely to be vulnerable on school readiness measures compared to those children who were not exposed.
Diffuse intrinsic pontine glioma (DIPG) remains a clinico-radiologic diagnosis without routine tissue acquisition. Reliable imaging distinction between DIPG and other pontine tumors with potentially more favorable prognoses and treatment considerations is essential.
Cerebral palsy (CP) is a physical disability that affects movement and posture. Approximately 17 million people worldwide and 34,000 people in Australia are living with CP. In clinical and kinematic research, goniometers and inclinometers are the most commonly used clinical tools to measure joint angles and positions in children with CP.