New Advances in the Diagnosis of Pediatric Diseases

A special issue of Diagnostics (ISSN 2075-4418). This special issue belongs to the section "Clinical Diagnosis and Prognosis".

Deadline for manuscript submissions: 31 July 2026 | Viewed by 807

Special Issue Editor


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Guest Editor
Pediatric and Neonatal Surgery Unit, University of Sassari, 07100 Sassari, Italy
Interests: pediatric; surgery; urology; robotics; laparoscopy

Special Issue Information

Dear Colleagues,

We invite submissions for this Special Issue, “New Advances in the Diagnosis of Pediatric Diseases”. This issue will highlight cutting-edge diagnostic science and translation that improve detection, characterization, and clinical decision-making across neonatology, infancy, childhood, and adolescence. The scope includes novel biomarkers (molecular, proteomic, and metabolomic), genomic and multi-omics diagnostics, advanced imaging, AI and decision-support tools, point-of-care and wearable technologies, multiplex infectious disease testing, newborn screening improvements, rapid diagnostics for rare and genetic disorders, and implementation studies addressing equity, ethics, and cost-effectiveness. We welcome original research with clinical validation (including multicenter studies), systematic reviews, methodological papers, diagnostic protocols, technical notes, and high-quality case series that demonstrate innovation and translational impact. Submissions should emphasize diagnostic accuracy, clinical utility, reproducibility, and pathways to implementation in pediatric settings. Interdisciplinary work, computational science, laboratory medicine, and clinical pediatrics are especially encouraged. Authors should clearly state clinical implications and limitations to guide adoption in practice. Together, these contributions will provide new insights into advances in the diagnosis of pediatric diseases.

Dr. Mariapina Cerulo
Guest Editor

Manuscript Submission Information

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Keywords

  • pediatric diseases diagnostic
  • artificial intelligence-assisted diagnostics
  • non-invasive diagnostic methodologies
  • early detection and disease stratification in children
  • precision medicine approaches in pediatrics
  • diagnostic biomarkers for pediatric disorders

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Published Papers (1 paper)

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16 pages, 986 KB  
Systematic Review
A Systematic Review and Meta-Analysis on the Diagnostic Test Accuracy of Hepatorenal Index in Pediatric Metabolic Dysfunction-Associated Steatotic Liver Disease
by Ratna Sutanto, Aristya Dewi Pratiwi, Callistus Bruce Henfry Sulay and Gilbert Sterling Octavius
Diagnostics 2026, 16(5), 729; https://doi.org/10.3390/diagnostics16050729 - 1 Mar 2026
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Abstract
Background: Metabolic dysfunction-associated steatotic liver disease (MASLD), previously known as non-alcoholic fatty liver disease (NAFLD), is increasingly prevalent in children. However, reliable noninvasive diagnostic tools remain limited. The hepatorenal index (HRI) has been proposed as a quantitative ultrasound method to assess hepatic [...] Read more.
Background: Metabolic dysfunction-associated steatotic liver disease (MASLD), previously known as non-alcoholic fatty liver disease (NAFLD), is increasingly prevalent in children. However, reliable noninvasive diagnostic tools remain limited. The hepatorenal index (HRI) has been proposed as a quantitative ultrasound method to assess hepatic steatosis. This study aims to evaluate the diagnostic accuracy of HRI in detecting pediatric MASLD. Methods: A systematic review and meta-analysis were conducted on 13 September 2025, following PRISMA-DTA guidelines, with the protocol registered in PROSPERO (CRD420251146939). MEDLINE, PubMed, Cochrane Library, ScienceDirect, and Google Scholar were searched. Studies that assessed HRI against reference standards (MRI-PDFF or liver biopsy) in pediatric MASLD were included. Pooled diagnostic parameters were estimated using a bivariate random-effects model, with heterogeneity evaluated by I2 statistics and publication bias by funnel plot asymmetry. Results: Four studies involving 194 pediatric patients (47.9% MASLD), mostly male (57.7%), met the inclusion criteria. The suggested HRI cut-off varies from ≥1.215 to 1.99. The pooled sensitivity and specificity were 90% (95% CI 70–97) and 84% (95% CI 73–92), respectively, with an AUC of 0.91 (95% CI 0.88–0.93). Positive and negative likelihood ratios were 6 and 0.12, corresponding to post-test probabilities of 32% and 1%, respectively. No significant publication bias or heterogeneity was detected. Conclusions: Although HRI demonstrates strong diagnostic performance, it currently lacks sufficient discriminatory power to definitively confirm or exclude MASLD in pediatric populations and should therefore be regarded as a supportive rather than definitive diagnostic tool pending further high-quality validation studies. Full article
(This article belongs to the Special Issue New Advances in the Diagnosis of Pediatric Diseases)
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