Objectives The cardiac biomarkers high sensitivity cardiac troponin I (hs-cTnI) and N-terminal pro-B-type natriuretic peptide (NT-proBNP) are utilised in paediatric healthcare for the diagnosis and prognostic assessment of many conditions including myocarditis, congenital heart disease, multisystem inflammatory syndrome in children (MIS-C) and heart failure. However, the standardised age-related reference intervals, 99th percentile cut-offs and clinical guidelines are not available, making the interpretation of these biomarkers challenging. This study aimed to generate normative data in a paediatric cohort for the Siemens Atellica^® IM 1300 analyser. Methods Residual plasma samples were collected from children aged up to 17 years attending primary care and out-patient settings and with no apparent evidence of cardiac dysfunction, renal dysfunction or other confounders. Reference intervals were generated using the 2.5th–97.5th percentiles, and 99th percentile cut-offs determined according to CLSI EP28-A3c. Results Statistical analysis revealed that partitioning was not required for gender for either biomarker. The reference interval for hs-cTnI for children aged one month to 16 years (n=292, 146 females and 146 males) was <14 ng/L with a 99th percentile cut-off of 19 ng/L. The reference interval for NT-proBNP for children aged one month up to one year was <714 ng/L (n=14) and for children aged 1–16 years (n=339) was <295 ng/L. Conclusions This is the first paediatric reference interval data generated on the Siemens Atellica^® solution. These reference intervals and 99th percentiles will inform clinical decisions in the paediatric cardiology setting.

Severe combined immunodeficiency (SCID) and spinal muscular atrophy (SMA) are being added to the Newborn Bloodspot Screening (NBS) programme in the Republic of Ireland. To support this expansion, we conducted a scoping review to identify reported timeframes for implementing national, regional or state-wide expanded NBS programmes. We performed a scoping review of the literature published between 2015 and 2025. Eligible articles described the timeframes for implementation of expanded NBS programmes for SCID, SMA or additional metabolic conditions. Sources included PubMed, Embase, citation searching, the International Journal of Neonatal Screening and grey literature. A narrative synthesis was undertaken. Fourteen articles met the inclusion criteria, describing the addition of new conditions—SCID (N = 7), SMA (N = 4), or multiple conditions (N = 3) to expanded NBS programmes in the United States (US), Europe (Belgium, Catalonia, the Czech Republic, Estonia, Germany, Norway, Poland, Portugal, Slovakia, Slovenia, Sweden, and Tuscany), Hong Kong and New Zealand. In most jurisdictions, the implementation of NBS programmes for new conditions took two to six years. The implementation of NBS for new conditions requires considerable time and coordinated efforts. Further research providing greater detail on the specific implementation steps, along with associated timelines, would provide valuable guidance for jurisdictions aiming to expand NBS programmes globally.

Article Non-esterified fatty acids (NEFA): sample stability and effect of haemolysis and icterus was published on December 2, 2022 in the journal Clinical Chemistry and Laboratory Medicine (CCLM) (volume 0, issue 0).

A boy in mid-childhood presented with right-sided gynaecomastia, which was excised. He represented and, on review by endocrinology, Tanner staging showed stage 2 left-sided glandular breast tissue and some features of virilisation. His testicular volumes remained prepubertal (3 mL). Testicular ultrasound demonstrated irregular echogenic foci bilaterally, and mucosal freckling was noted. A genetic panel confirmed a de novo STK11 variant, pathogenic for Peutz-Jeghers syndrome (PJS). Aromatase inhibition was chosen in preference to left-sided mastectomy. His growth velocity and bone age stabilised, and left-sided breast budding reduced in size. He continues to have a good cosmetic outcome with preserved height potential 5 years later. In this case, to date, treatment with an aromatase inhibitor has negated the need for further surgery. Pseudopuberty in boys with PJS can lead to a diagnostic and treatment challenge. We present a recent case and review the evolving treatment standards and diagnostic strategies.