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Showing results for "Au"

Research

Whole blood transcriptional responses of very preterm infants during late-onset sepsis

Blood responses in very preterm infants with LOS are characterised by altered host immune responses that appear to reflect unbalanced immuno-metabolic homeostasis

Research

BCG vaccination to reduce the impact of COVID-19 in healthcare workers: Protocol for a randomised controlled trial (BRACE trial)

BCG vaccination modulates immune responses to unrelated pathogens. This off-target effect could reduce the impact of emerging pathogens. As a readily available, inexpensive intervention that has a well-established safety profile, BCG is a good candidate for protecting healthcare workers (HCWs) and other vulnerable groups against COVID-19.

Research

Co-design of a neurodevelopment assessment scale: A study protocol

Neurodevelopmental disorders are a heterogeneous group of conditions with overlapping symptomatology and fluctuating developmental trajectories that transcend current diagnostic categorisation. There is a need for validated screening instruments which dimensionally assess symptomatology from a holistic, transdiagnostic perspective.

Research

Relationship Between Social Motivation in Children With Autism Spectrum Disorder and Their Parents

Impairment in social motivation (SM) has been suggested as a key mechanism underlying social communication deficits observed in autism spectrum disorder (ASD). However, the factors accounting for variability in SM remain poorly described and understood. The current study aimed to characterize the relationship between parental and proband SM. Data from 2,759 children with ASD and their parents from the Simons Simplex Collection (SSC) project was included in this study.

Research

Psychometric properties of the Quality of Life Inventory-Disability (QI-Disability) measure

Initial evaluation suggests that QI-Disability is a reliable and valid measure of quality of life across the spectrum of intellectual disability

Research

Candidate gene testing in clinical cohort studies with multiplexed genotyping and mass spectrometry

We describe a cost-effective tag single nucleotide polymorphism approach using a multiplexed genotyping assay with mass spectrometry

Research

A Diagnosis for All Rare Genetic Diseases: The Horizon and the Next Frontiers

There is a critical need for the field to develop and implement strategies to understand the mechanisms underlying all rare diseases and translate these to clinical care

Research

Genome-wide association and HLA fine-mapping studies identify risk loci and genetic pathways underlying allergic rhinitis

GWAS analyses of allergic sensitization against inhalant allergens and nonallergic rhinitis suggested shared genetic mechanisms across rhinitis-related traits

Research

Reduced heart rate variability in a treatment-seeking early psychosis sample

Findings provide preliminary evidence that early psychosis is associated with reduced heart rate variability

Research

Interleukin-1 is associated with inflammation and structural lung disease in young children with cystic fibrosis

Our data associates IL-1α with early structural lung damage in CF and suggests this pathway as a novel anti-inflammatory target