Search

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.

Research

Since 1955, the recommended strategy for rheumatic heart disease secondary prophylaxis has been benzathine penicillin G injections administered intramuscularly every 4 weeks. Due to dosing frequency, pain, and programmatic challenges, adherence is suboptimal. It has previously been demonstrated that BPG delivered subcutaneously at a standard dose is safe and tolerable and has favorable pharmacokinetics, setting the scene for improved regimens with less frequent administration.

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

Children with difficult tracheal intubation are at increased risk of severe complications, including hypoxaemia and cardiac arrest. Increasing experience with the simultaneous use of videolaryngoscopy and flexible bronchoscopy (hybrid) in adults led us to hypothesise that this hybrid technique could be used safely and effectively in children under general anaesthesia.

Research

Family carers of youth recovering from early psychosis experience significant stress; however, access to effective family interventions is poor. Digital interventions provide a promising solution.

Research

Improvements in neonatal critical care have resulted in more people than ever reaching adulthood after being born prematurely. At the same time, it is becoming clearer that preterm birth can increase the risk of respiratory disease throughout a person’s lifetime. Awareness that a patient was born preterm can enable early specialist assessment and intervention when there is any concern about lung health. 

Research

High-frequency oscillatory ventilation (HFOV) is an established mode of respiratory support in the neonatal intensive care unit. Large clinical trial data is based on first intention use in preterm infants with acute respiratory distress syndrome. Clinical practice has evolved from this narrow population. HFOV is most often reserved for term and preterm infants with severe, and often complex, respiratory failure not responding to conventional modalities of respiratory support.

Research

This review paper explores the role of human taste panels and artificial neural networks (ANNs) in taste-masking paediatric drug formulations. Given the ethical, practical, and regulatory challenges of employing children, young adults (18-40) can serve as suitable substitutes due to the similarity in their taste sensitivity. Taste panellists need not be experts in sensory evaluation so long as a reference product is used during evaluation; however, they should be screened for bitterness taste detection thresholds.

Research

Childhood dementias are a group of rare and ultra-rare paediatric conditions clinically characterised by enduring global decline in central nervous system function, associated with a progressive loss of developmentally acquired skills, quality of life and shortened life expectancy. Traditional research, service development and advocacy efforts have been fragmented due to a focus on individual disorders, or groups classified by specific mechanisms or molecular pathogenesis.

Research

Heart failure (HF) is the end stage of most cardiovascular diseases and remains a significant health problem globally. We aimed to assess whether patients with left ventricular ejection fraction ≤45% had alterations in both the gut microbiome profile and production of associated metabolites when compared to a healthy cohort.