The integration of traditional clinical skills with emerging diagnostic technologies offers a natural transition to a wider theme running through this issue: the growing influence of genomic medicine in paediatric care. Jodie Nguyen and colleagues present a quality improvement project evaluating the implementation of a point-of-care genomic test—the Genedrive MT-RNR1 assay. The m.1555A>G variant in the mitochondrial...]]>
The modern diagnostic approach integrates the latest evidence-based guidelines and technological advancements, thus enabling a swift and effective management strategy. This fifteen-minute consultation equips healthcare professionals with the necessary information to optimise history taking and basic case evaluation and provides insights into procedures at tertiary bone centres. Good collaboration among general paediatricians, orthopaedic surgeons and paediatric bone specialists ultimately enhances the care and outcomes for children with recurrent fractures.
]]>A staff-led, multidisciplinary quality improvement project addressing workplace well-being in a large inner-city children’s hospital.
Many health workers report low workplace well-being, which negatively impacts their health and well-being, and patient care. Staff well-being is an important contributor to high-quality patient care.
Working with children and families is rewarding but challenging. It offers the chance to make a real difference while working in multidisciplinary teams.
In the 2023 National Health...]]>
Quality improvement project implementing the Genedrive MT-RNR1 point-of-care technology into a neonatal intensive care unit (NICU).
Gentamicin is a commonly used aminoglycoside antibiotic. The National Institute for Health and Care Excellence (NICE) guidelines recommend gentamicin and benzylpenicillin for first-line treatment of neonatal early-onset sepsis.
The prevalence of the variant in the general population is 1 in 500.
A...]]>
Radiomics is an emerging field that combines medical imaging techniques with data science to extract a vast array of quantitative features from images for clinical or research applications. These features, often imperceptible to the human eye, hold the potential to enhance healthcare and improve patient outcomes
Interpretability, accountability and reliability are essential within a healthcare setting. In contrast to ‘black-box’ artificial intelligence approaches, radiomics typically integrates interpretable algorithms, ensuring that predictions and insights can be understood, validated and trusted by clinicians, offering auditable workflows that are clear and reproducible.
While traditional radiological...]]>
What constitutes death has been discussed and debated throughout history. From a medical perspective, three sets of criteria are now recognised to diagnose death: somatic, circulatory and neurological.
The need for neurological criteria has arisen from advances in intensive care and medical technology to support organ function. However, death by neurological criteria, commonly referred to as brain death, presents unique complexities which are further compounded in paediatrics. For example, patients declared dead by neurological criteria may have outward appearances reminiscent of life, there may be different perspectives on which tests reliably indicate brain death across the age spectrum, or there may be family and public uncertainty or wariness about the concept of brain death.
Authoritative guidelines help ensure that death is diagnosed in an accurate, standardised and timely manner, which in turn helps maintain public trust in the process of determining death and the medical profession.
...]]>Jaundice affects 60% of term infants and up to 80% of preterm newborns. Early identification and treatment are necessary to prevent acute bilirubin encephalopathy and kernicterus. In October 2023, the National Institute for Health and Care Excellence (NICE) updated its clinical guideline CG98, ‘Jaundice in newborn babies under 28 days’ (
Resources Link to the National Institute for Health and Care Excellence (NICE) guideline Link to the NICE treatment threshold graphs Link to the NICE guideline committee’s evidence review Link to parent information leaflets about jaundice from the Children’s Liver Disease Foundation and their ‘Yellow Alert’ awareness campaign
National Institute for Health and Care Excellence (NICE) guideline NG112
Title: Urinary tract infection (recurrent): antimicrobial prescribing (NICE NG112) in children, young people and adults who do not have a catheter Publication date: October 2018 Last Updated: December 2024 Aim: To provide clear, evidence-based guidance on use of antimicrobials in recurrent UTI, focusing on optimising antibiotic use and reducing antibiotic resistance. Key stakeholders: NICE, paediatricians, GPs, microbiologists
NICE CG54—UTI in under 16s: diagnosis and management (2007, updated 2018) Covers diagnosis, imaging and treatment of first and recurrent UTIs in children. Highlights...]]>
His parents noticed two red marks on his right forearm after returning from nursery. The staff were unable to offer a clear explanation. A safeguarding referral was made due to the marks persisting and remaining unexplained. He is healthy and fully immunised with no personal or family history of bleeding or skin disorders.
The patient had appropriate growth, development and a normal systems examination. There was no impaired function, swelling, deformity, erythema or tenderness of the right forearm and wrist.
At the examination, the marks were 2 weeks old. There were other non-concerning marks identified as accidental bruises on the exposed limbs.
Mark 1 (
The family provided a photograph taken at home (
What is the likely diagnosis? Acrocyanosis Primary Raynaud’s phenomenon Secondary Raynaud’s phenomenon COVID digits Erythromelalgia What are the most relevant initial tests to identify the diagnosis? Pulse oximetry ANA (Anti-nuclear antibody) Nailfold capillaroscopy Urinalysis None Which clinical features are most suggestive of an underlying disease? Episodes...]]>