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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

Research

A novel, palatable paediatric oral formulation of midazolam: Pharmacokinetics, tolerability, efficacy and safety

We conclude that the novel chocolate-based formulation of midazolam provides improved tolerability while remaining efficacious

Research

Predicting respiratory hospital admissions in young people with cerebral palsy

Most risk factors for respiratory hospital admissions in young people with cerebral palsy are potentially modifiable

Research

Expansion of the Human Phenotype Ontology (HPO) knowledge base and resources

The Human Phenotype Ontology is a standardized vocabulary of phenotypic abnormalities used by researchers, clinicians, informaticians and electronic health record systems

Research

Temporal trends and socioeconomic differences in acute respiratory infection hospitalisations in children: an intercountry comparison of birth cohort studies

Admissions for ARI were higher in Western Australia and displayed greater socioeconomic disparities than England and Scotland, where ARI rates are increasing

Research

Severity Assessment in CDKL5 Deficiency Disorder

A severity assessment was rapidly developed with input from multiple stakeholders. Refinement through ongoing validation is required for future clinical trials.

Research

International experience in the development of patient-derived xenograft models of diffuse intrinsic pontine glioma

This multi-center study provides valuable information on the success rate of establishing patient-derived pre-clinical models of diffuse intrinsic pontine glioma

Research

Planetary Health: From the Wellspring of Holistic Medicine to Personal and Public Health Imperative

Here, we explore the history of planetary health and describe its relevance to contemporary healthcare

Research

Facilitators and Barriers of Participation in “Uptime” Activities in Girls and Women With Rett Syndrome: Perspectives From Parents and Professionals

This study explored facilitators and barriers to "uptime" (non-sedentary) activities in Danish girls and women with Rett syndrome

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