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Recent Advances in Prevention, Diagnosis and Treatment of Pediatric Diseases
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Recent Advances in Prevention, Diagnosis and Treatment of 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 February 2025 | Viewed by 1257

Special Issue Editor

Dr. Giovanni Fiorito

E-Mail Website
Guest Editor
Clinical Bioinformatics Unit, IRCCS Istituto Giannina Gaslini, 5-16147 Genova, Italy
Interests: bioinformatics; machine learning; epigenetics; molecular epidemiology; DNA methylation
Special Issues, Collections and Topics in MDPI journals

Special Issue Information

Dear Colleagues,

Pediatric diseases include a large set of disorders affecting children from birth to adolescence. Understanding the underlying molecular mechanisms of these diseases is crucial for developing effective diagnostic tools and therapeutic interventions.

Recent advancements in technology, coupled with cutting-edge analytical methods, machine learning, and artificial intelligence, have transformed pediatric medicine. These innovations enable the analysis of complex clinical and biomolecular data, providing deeper insights into disease pathogenesis.

This Special Issue aims to highlight the new advances in the prevention, diagnosis, and treatment of pediatric diseases, including the importance of deciphering the crucial role of in utero and early-life exposures in shaping pediatric and adult health outcomes. We invite researchers to submit manuscripts addressing the following critical areas:

  1. Genome-wide association studies for the identification of genetic variants associated with pediatric diseases.
  2. The development of predictive models for disease risk, treatment response, and clinical outcomes using machine learning and artificial intelligence, with a focus on pediatric diseases and incorporating the impact of early-life exposures.
  3. Elucidation of the molecular mechanisms connecting in utero and early-life exposures to future disease development through comprehensive clinical and omics data (including epigenomic, transcriptomic, proteomic, metabolomic, and gut microbiome analyses).
  4. Advancement of personalized medicine approaches for pediatric patients.
  5. Evaluation and recommendations regarding the effectiveness of novel therapeutic approaches for treating pediatric patients and preventing disease in high-risk populations.

We encourage the submission of original research articles that demonstrate the potential of novel technologies and analytical methods in improving the prevention, diagnosis, and treatment of pediatric diseases.

Dr. Giovanni Fiorito
Guest Editor

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.

Submitted manuscripts should not have been published previously, nor be under consideration for publication elsewhere (except conference proceedings papers). All manuscripts are thoroughly refereed through a single-blind peer-review process. A guide for authors and other relevant information for submission of manuscripts is available on the Instructions for Authors page. International Journal of Molecular Sciences is an international peer-reviewed open access semimonthly journal published by MDPI.

Please visit the Instructions for Authors page before submitting a manuscript. There is an Article Processing Charge (APC) for publication in this open access journal. For details about the APC please see here. Submitted papers should be well formatted and use good English. Authors may use MDPI's English editing service prior to publication or during author revisions.

Keywords

  • pediatric diseases
  • bioinformatics
  • in utero and early-life exposures
  • multi-omic biomarkers
  • personalized medicine
  • diagnosis
  • prevention

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Published Papers (2 papers)

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17 pages, 4153 KiB  
Article
Network-Based Bioinformatics Highlights Broad Importance of Human Milk Hyaluronan
by Kathryn Y. Burge, Hua Zhong, Adam P. Wilson and Hala Chaaban
Int. J. Mol. Sci. 2024, 25(23), 12679; https://doi.org/10.3390/ijms252312679 - 26 Nov 2024
Viewed by 43
Abstract
Human milk (HM) is rich in bioactive factors promoting postnatal small intestinal development and maturation of the microbiome. HM is also protective against necrotizing enterocolitis (NEC), a devastating inflammatory condition predominantly affecting preterm infants. The HM glycosaminoglycan, hyaluronan (HA), is present at high [...] Read more.
Human milk (HM) is rich in bioactive factors promoting postnatal small intestinal development and maturation of the microbiome. HM is also protective against necrotizing enterocolitis (NEC), a devastating inflammatory condition predominantly affecting preterm infants. The HM glycosaminoglycan, hyaluronan (HA), is present at high levels in colostrum and early milk. Our group has demonstrated that HA with a molecular weight of 35 kDa (HA35) promotes maturation of the murine neonatal intestine and protects against two distinct models of NEC. However, the molecular mechanisms underpinning HA35-induced changes in the developing ileum are unclear. CD-1 mouse pups were treated with HA35 or vehicle control daily, from P7 to P14, and we used network and functional analyses of bulk RNA-seq ileal transcriptomes to further characterize molecular mechanisms through which HA35 likely influences intestinal maturation. HA35-treated pups separated well by principal component analysis, and cell deconvolution revealed increases in stromal, Paneth, and mature enterocyte and progenitor cells in HA35-treated pups. Gene set enrichment and pathway analyses demonstrated upregulation in key processes related to antioxidant and growth pathways, such as nuclear factor erythroid 2-related factor-mediated oxidative stress response, hypoxia inducible factor-1 alpha, mechanistic target of rapamycin, and downregulation of apoptotic signaling. Collectively, pro-growth and differentiation signals induced by HA35 may present novel mechanisms by which this HM bioactive factor may protect against NEC. Full article
(This article belongs to the Special Issue Recent Advances in Prevention, Diagnosis and Treatment of Pediatric Diseases)
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16 pages, 301 KiB  
Review
Therapeutic Options for Crigler–Najjar Syndrome: A Scoping Review
by Vanessa Sambati, Serena Laudisio, Matteo Motta and Susanna Esposito
Int. J. Mol. Sci. 2024, 25(20), 11006; https://doi.org/10.3390/ijms252011006 - 13 Oct 2024
Viewed by 921
Abstract
Crigler–Najjar Syndrome (CNS) is a rare genetic disorder caused by mutations in the UGT1A1 gene, leading to impaired bilirubin conjugation and severe unconjugated hyperbilirubinemia. CNS presents in the following forms: CNS type 1 (CNS1), the more severe form with the complete absence of [...] Read more.
Crigler–Najjar Syndrome (CNS) is a rare genetic disorder caused by mutations in the UGT1A1 gene, leading to impaired bilirubin conjugation and severe unconjugated hyperbilirubinemia. CNS presents in the following forms: CNS type 1 (CNS1), the more severe form with the complete absence of UGT1A1 activity, and CNS type 2 (CNS2), with partial enzyme activity. This narrative review aims to provide a detailed overview of CNS, highlighting its clinical significance and the need for new, more effective treatments. By summarizing current knowledge and discussing future treatments, this article seeks to encourage further research and advancements that can improve outcomes for CNS patients. The literature analysis showed that CNS1 requires aggressive management, including phototherapy and plasmapheresis, but liver transplantation (LT) remains the only definitive cure. The timing of LT is critical, as it must be performed before the onset of irreversible brain damage (kernicterus), making early intervention essential. However, LT poses risks such as graft rejection and lifelong immunosuppression. CNS2 is milder, with patients responding well to phenobarbital and having a lower risk of kernicterus. Recent advancements in gene therapy and autologous hepatocyte transplantation offer promising alternatives to LT. Gene therapy using adeno-associated virus (AAV) vectors has shown potential in preclinical studies, though challenges remain in pediatric applications due to liver growth and pre-existing immunity. Autologous hepatocyte transplantation avoids the risk of rejection but requires further research. These emerging therapies provide hope for more effective and less invasive treatment options, aiming to improve the quality of life for CNS patients and reduce reliance on lifelong interventions. Full article
(This article belongs to the Special Issue Recent Advances in Prevention, Diagnosis and Treatment of Pediatric Diseases)
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