Aims ‘Diagnostic odyssey’ encompasses time from initial disease recognition or symptom onset to final diagnosis as experienced by patients with rare genetic diseases and their families. General ...

Background and objective Cardiorespiratory polygraphy (CRP) is the predominant technology used to diagnose obstructive sleep apnoea (OSA) in tertiary centres in the UK. Nocturnal pulse oximetry (NPO) ...

In this review, we provide a state of the art of liver transplantation in children, as the procedure is now carried out for more than 30 years and most of our paediatric colleagues are managing these ...

The heart and lungs work closely to meet the tissues’ oxygen demands. If the balance between oxygen demand and supply becomes disturbed in critical illness, tissue hypoxia and cell death can rapidly ...

Aims: To investigate whether weight category (underweight, average weight, overweight, and obese) at age 7.5 predicts bullying involvement at 8.5 years. Models were tested separately for boys and ...

Objectives Multiplex gastrointestinal PCR (GI-PCR) allows fast and simultaneous detection of 22 enteric pathogens (including Campylobacter, Salmonella , Shigella /enteroinvasive Escherichia coli (EIEC ...

Our aim was to develop guidance for general paediatricians and primary care physicians in diagnosing and managing cow’s milk protein allergy in infants. The guidelines were developed by discussion ...

Objective Congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency is an inherited adrenal steroid synthesis ...

Background We sought to measure the diagnostic accuracy of D-dimer in children with suspected pulmonary embolism (PE). Methods We queried our electronic medical record for quantitative D-dimer values ...

Background National and international guidelines recommend that psychosocial support should be a key component of the care offered to children and adolescents experiencing gender ...

Objectives Sleep-disordered breathing is a key childhood complication in children with achondroplasia. This retrospective study aimed to document the prevalence of sleep-disordered breathing in ...

Most children in hospital who are clinically deteriorating are monitored regularly, and their treatment is escalated effectively. However a small, but significant, number of deteriorating children ...