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Molecular Advances in Pediatric Diseases
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Molecular Advances in Pediatric Diseases

A special issue of International Journal of Molecular Sciences (ISSN 1422-0067). This special issue belongs to the section "Molecular Pathology, Diagnostics, and Therapeutics".

Deadline for manuscript submissions: 20 June 2025 | Viewed by 5904

Special Issue Editors

Dr. Elvira Pota

E-Mail Website
Guest Editor
Department of Woman, Child and General and Specialist Surgery, University of Campania “Luigi Vanvitelli”, 80138 Naples, Italy
Interests: pediatrics; oncology; onco-hematology; hematology; childhood cancer survivors
Dr. Alessandra Di Paola

E-Mail Website
Guest Editor
Department of Woman, Child and General and Specialist Surgery, University of Campania “Luigi Vanvitelli”, Naples, Italy
Interests: molecular biology; cellular biology; oncology; onco-hematology; pediatric diseases

Special Issue Information

Dear Colleagues,

In recent years, considerable interest has been directed towards the search for novel therapeutic strategies for the treatment of pediatric diseases. Pediatric diseases include malignant and non-malignant morbidities. Currently, novel therapeutic approaches for the treatment of pediatric diseases are under investigation, with a particular interest in new molecular targets and/or signaling pathways. Although the canonical drugs commonly used for the treatment of several pediatric diseases have improved patients’ quality of life and survival, sometimes they are ineffective and often responsible for long-term side effects. Therefore, research on novel therapeutic targets or approaches to counteract disease progression and the discovery of novel molecular mechanisms involved in pediatric disease onset and progression are needed. The aim of this Special Issue is to collect the most recent interesting scientific evidence in the field of molecular advances focusing on the molecular basis of pediatric diseases to develop novel therapeutic strategies and uncover new molecular mechanisms in non-malignant and malignant pediatric diseases.

Dr. Elvira Pota
Dr. Alessandra Di Paola
Guest Editors

Manuscript Submission Information

Manuscripts should be submitted online at www.mdpi.com by registering and logging in to this website. Once you are registered, click here to go to the submission form. Manuscripts can be submitted until the deadline. All submissions that pass pre-check are peer-reviewed. Accepted papers will be published continuously in the journal (as soon as accepted) and will be listed together on the special issue website. Research articles, review articles as well as short communications are invited. For planned papers, a title and short abstract (about 100 words) can be sent to the Editorial Office for announcement on this website.

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Keywords

  • pediatric patients
  • pediatric diseases
  • molecular mechanisms
  • molecular therapies
  • molecular target
  • therapeutic strategies

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Published Papers (4 papers)

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Research

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10 pages, 3638 KiB  
Article
MiR-21-5p and miR-223-3p as Treatment Response Biomarkers in Pediatric Eosinophilic Esophagitis
by Antonietta Tarallo, Marianna Casertano, Anna Valanzano, Sabrina Cenni, Mara Creoli, Giuseppina Russo, Carla Damiano, Annamaria Carissimo, Alessandro Cioce, Massimo Martinelli, Erasmo Miele, Annamaria Staiano, Dario Iafusco, Giancarlo Parenti and Caterina Strisciuglio
Int. J. Mol. Sci. 2025, 26(7), 3111; https://doi.org/10.3390/ijms26073111 - 28 Mar 2025
Viewed by 279
Abstract
The diagnosis and monitoring of eosinophilic esophagitis (EoE), a common pediatric pathology, typically involves invasive procedures such as an upper endoscopy with biopsies, imposing a significant burden on patients and healthcare systems. We aimed to assess miR-21-5p and miR-223-3p levels in pediatric EoE [...] Read more.
The diagnosis and monitoring of eosinophilic esophagitis (EoE), a common pediatric pathology, typically involves invasive procedures such as an upper endoscopy with biopsies, imposing a significant burden on patients and healthcare systems. We aimed to assess miR-21-5p and miR-223-3p levels in pediatric EoE patients and evaluate their as potential non-invasive biomarkers of disease activity and response to treatments. We enrolled 13 children with EoE and 8 controls. Plasma and esophageal mucosa samples from patients were collected at diagnosis and after 8–10 weeks of therapy and compared with control samples. After microRNA(miRNA) extraction, the levels of miR-21-5p and miR-223-3p and their relevant target genes were analyzed. Bioinformatic analysis was used to identify the predicted target genes and pathways that are potentially relevant for disease pathophysiology. Plasma levels of miR-21-5p and miR-223-3p were significantly higher in EoE patients than in the controls, reflecting their levels in esophageal mucosa. The target genes of these miRNAs are involved in key signaling pathways (MAPK, Ras, and FoxO), relevant for EoE pathophysiology. Among these, STAT3 (Signal Transducer and Activator of Transcription 3) and PTEN (Phosphatase and Tensin Homolog), which are significantly downregulated in patient esophageal mucosa, are implicated in eosinophilic gastroenteropathies and autoimmune diseases. Following therapy (proton pump inhibitors and/or fluticasone propionate), plasma and tissue expression of both miRNAs significantly decreased and were no longer different from the controls. These microRNAs may serve as complementary non-invasive EoE markers and reduce the need for endoscopy/biopsies. Full article
(This article belongs to the Special Issue Molecular Advances in Pediatric Diseases)
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17 pages, 1732 KiB  
Article
Predicting Outcomes of Preterm Neonates Post Intraventricular Hemorrhage
by Gabriel A. Vignolle, Priska Bauerstätter, Silvia Schönthaler, Christa Nöhammer, Monika Olischar, Angelika Berger, Gregor Kasprian, Georg Langs, Klemens Vierlinger and Katharina Goeral
Int. J. Mol. Sci. 2024, 25(19), 10304; https://doi.org/10.3390/ijms251910304 - 25 Sep 2024
Viewed by 1868
Abstract
Intraventricular hemorrhage (IVH) in preterm neonates presents a high risk for developing posthemorrhagic ventricular dilatation (PHVD), a severe complication that can impact survival and long-term outcomes. Early detection of PHVD before clinical onset is crucial for optimizing therapeutic interventions and providing accurate parental [...] Read more.
Intraventricular hemorrhage (IVH) in preterm neonates presents a high risk for developing posthemorrhagic ventricular dilatation (PHVD), a severe complication that can impact survival and long-term outcomes. Early detection of PHVD before clinical onset is crucial for optimizing therapeutic interventions and providing accurate parental counseling. This study explores the potential of explainable machine learning models based on targeted liquid biopsy proteomics data to predict outcomes in preterm neonates with IVH. In recent years, research has focused on leveraging advanced proteomic technologies and machine learning to improve prediction of neonatal complications, particularly in relation to neurological outcomes. Machine learning (ML) approaches, combined with proteomics, offer a powerful tool to identify biomarkers and predict patient-specific risks. However, challenges remain in integrating large-scale, multiomic datasets and translating these findings into actionable clinical tools. Identifying reliable, disease-specific biomarkers and developing explainable ML models that clinicians can trust and understand are key barriers to widespread clinical adoption. In this prospective longitudinal cohort study, we analyzed 1109 liquid biopsy samples from 99 preterm neonates with IVH, collected at up to six timepoints over 13 years. Various explainable ML techniques—including statistical, regularization, deep learning, decision trees, and Bayesian methods—were employed to predict PHVD development and survival and to discover disease-specific protein biomarkers. Targeted proteomic analyses were conducted using serum and urine samples through a proximity extension assay capable of detecting low-concentration proteins in complex biofluids. The study identified 41 significant independent protein markers in the 1600 calculated ML models that surpassed our rigorous threshold (AUC-ROC of ≥0.7, sensitivity ≥ 0.6, and selectivity ≥ 0.6), alongside gestational age at birth, as predictive of PHVD development and survival. Both known biomarkers, such as neurofilament light chain (NEFL), and novel biomarkers were revealed. These findings underscore the potential of targeted proteomics combined with ML to enhance clinical decision-making and parental counseling, though further validation is required before clinical implementation. Full article
(This article belongs to the Special Issue Molecular Advances in Pediatric Diseases)
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Review

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16 pages, 896 KiB  
Review
Immunogenetic Landscape in Pediatric Common Variable Immunodeficiency
by Aleksandra Szczawińska-Popłonyk, Wiktoria Ciesielska, Marta Konarczak, Jakub Opanowski, Aleksandra Orska, Julia Wróblewska and Aleksandra Szczepankiewicz
Int. J. Mol. Sci. 2024, 25(18), 9999; https://doi.org/10.3390/ijms25189999 - 17 Sep 2024
Cited by 2 | Viewed by 1505
Abstract
Common variable immunodeficiency (CVID) is the most common symptomatic antibody deficiency, characterized by heterogeneous genetic, immunological, and clinical phenotypes. It is no longer conceived as a sole disease but as an umbrella diagnosis comprising a spectrum of clinical conditions, with defects in antibody [...] Read more.
Common variable immunodeficiency (CVID) is the most common symptomatic antibody deficiency, characterized by heterogeneous genetic, immunological, and clinical phenotypes. It is no longer conceived as a sole disease but as an umbrella diagnosis comprising a spectrum of clinical conditions, with defects in antibody biosynthesis as their common denominator and complex pathways determining B and T cell developmental impairments due to genetic defects of many receptors and ligands, activating and co-stimulatory molecules, and intracellular signaling molecules. Consequently, these genetic variants may affect crucial immunological processes of antigen presentation, antibody class switch recombination, antibody affinity maturation, and somatic hypermutation. While infections are the most common features of pediatric CVID, variants in genes linked to antibody production defects play a role in pathomechanisms of immune dysregulation with autoimmunity, allergy, and lymphoproliferation reflecting the diversity of the immunogenetic underpinnings of CVID. Herein, we have reviewed the aspects of genetics in CVID, including the monogenic, digenic, and polygenic models of inheritance exemplified by a spectrum of genes relevant to CVID pathophysiology. We have also briefly discussed the epigenetic mechanisms associated with micro RNA, DNA methylation, chromatin reorganization, and histone protein modification processes as background for CVID development. Full article
(This article belongs to the Special Issue Molecular Advances in Pediatric Diseases)
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13 pages, 568 KiB  
Review
The Diagnostic and Prognostic Role of Interleukin 6 and Interleukin 8 in Childhood Acute Gastroenteritis—A Review of the Literature
by Heidrun Adumitrăchioaiei, Maria Oana Săsăran and Cristina Oana Mărginean
Int. J. Mol. Sci. 2024, 25(14), 7655; https://doi.org/10.3390/ijms25147655 - 12 Jul 2024
Cited by 2 | Viewed by 1334
Abstract
Acute gastroenteritis in pediatric patients represents a major cause of morbidity and mortality in children. Interleukins 6 (IL-6) and 8 (IL-8) have been intensely studied in relation to various inflammatory conditions, including acute gastroenteritis, as they are activated in response to infection. This [...] Read more.
Acute gastroenteritis in pediatric patients represents a major cause of morbidity and mortality in children. Interleukins 6 (IL-6) and 8 (IL-8) have been intensely studied in relation to various inflammatory conditions, including acute gastroenteritis, as they are activated in response to infection. This review aims to evaluate the ability of IL-6 and IL-8 to distinguish between bacterial and viral etiologies of acute gastroenteritis in children and to assess whether their levels correlate with the severity of this condition in light of currently available data. A scientific database search was performed to identify studies that investigated the role of IL-6 and IL-8 in acute gastroenteritis in the pediatric population. We identified nine studies that matched the review’s objective. Both cytokines show increased values in acute gastroenteritis, but IL-6 levels are significantly higher in cases of bacterial infections. IL-8 levels do not present an increase to the same extent in cases of bacterial diarrhea in children but seem to be associated with the severity of the disease. The lack of sufficient research focusing on IL-6 and -8 as diagnostic, prognostic and severity biomarkers of acute gastroenteritis in children leaves room for further research on this topic, which must include larger cohort studies. Full article
(This article belongs to the Special Issue Molecular Advances in Pediatric Diseases)
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