Search

Research

General practitioners (GPs) are ideally placed to have a much larger role in detection and management of familial hypercholesterolaemia (FH) among their patients. The aim of this study was to seek the reflections of practice staff and newly diagnosed patients with FH on the implementation of an FH model of care in the general practice setting.

Research

We present new results of a 12CO(J = 1-0) imaging survey using the Atacama Compact Array (ACA) for 31 H i detected galaxies in the IC 1459 and NGC 4636 groups. This is the first CO imaging survey for loose galaxy groups.

Research

Urinary tract infections (UTIs) due to MDR organisms are increasingly common. The lack of paediatric data on efficacious antibiotics makes UTI treatment particularly challenging. Data on the efficacy of fosfomycin use for UTI in children are variable.

Research

Children with early-life recurrent otitis media (OM) will often endure pain, sleep disturbances, and other developmental setbacks that impact the surrounding family system. The aim of this study was to investigate the psychological well-being and family functioning of caregivers of children with early-life recurrent OM (rOM).

Research

The Toronto Paediatric Cancer Stage Guidelines are a compendium of staging systems developed to facilitate collection of consistent and comparable data on stage at diagnosis for childhood cancers by cancer registries.

Research

The broadening of the clinical definition of autism over time-the so-called, autism spectrum-has run in parallel with the growth of a neurodiversity movement that has reframed the concept of autism entirely. Without a coherent and evidence-based framework through which both of these advances can be situated, the field is at risk of losing definition altogether.

Research

Young people who have had contact with the criminal justice system are at increased risk of early death, especially from injuries. However, deaths due to non-communicable diseases (NCDs) in this population remain poorly described. We aimed to estimate mortality due to NCDs in people with a history of involvement with the youth justice system, compare NCD mortality rates in this population with those in the general population, and characterise demographic and justice-related factors associated with deaths caused by NCDs in people with a history of contact with the youth justice system.

Research

Lung function testing and lung imaging are commonly used techniques to monitor respiratory diseases, such as cystic fibrosis (CF). The nitrogen (N2) multiple-breath washout technique (MBW) has been shown to detect ventilation inhomogeneity in CF, but the underlying pathophysiological processes that are altered are often unclear.

Research

Adverse pregnancy outcomes including maternal mortality, stillbirth, preterm birth, intrauterine growth restriction cause millions of deaths each year. More effective interventions are urgently needed. Maternal immunization could be one such intervention protecting the mother and newborn from infection through its pathogen-specific effects.

Research

Ellis van Creveld syndrome and Weyers acrofacial dysostosis are two rare genetic diseases affecting skeletal development. They are both ciliopathies, as they are due to malfunction of primary cilia, microtubule-based plasma membrane protrusions that function as cellular antennae and are required for Hedgehog signaling, a key pathway during skeletal morphogenesis.