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Pediatric Diseases: From Molecular Mechanisms to Novel Therapeutic Strategies—2nd Edition

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: 30 November 2026 | Viewed by 464

Editor


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Guest Editor
1. Department of Surgery II—Pediatric and Orthopedic Surgery, Faculty of Medicine, Grigore T. Popa University of Medicine and Pharmacy, 700115 Iasi, Romania
2. Pediatric Surgery Unit, Saint Mary's Emergency Children Hospital, 700309 Iasi, Romania
Interests: neonatal medicine; congenital malformations; pediatric orthopedics and trauma; pediatric oncology; pediatric surgery; pediatric urology
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Special Issue Information

Dear Colleagues,

The diagnosis and management of pediatric genetic diseases and congenital abnormalities are extremely difficult tasks, with children’s physiopathology being different from that of adults. However, with it also being at least as extensive, such patients can only be treated through the care of a multidisciplinary team. In this Special Issue regarding pediatric diseases, from molecular mechanisms to novel therapeutic strategies, we aim to include original articles, reviews and even case reports of rare genetic anomalies, innovative diagnostic methods, or new molecular therapies.

Multimodal and multidisciplinary treatments of congenital abnormalities, genetic or molecular diseases and malignant tumors in children are fascinating fields that deserve special attention. We invite scientists from both the fields of genetics and pediatric specialties to not only express their opinions, but to showcase through this Special Issue the studies they have conducted on pediatric patients with these conditions. However, pure clinical studies are not suitable for this issue, though clinical submissions featuring molecular experiments are welcomed.

Dr. Elena Tarca
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 250 words) can be sent to the Editorial Office for assessment.

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-anonymized 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

  • congenital abnormalities
  • genetic disease
  • molecular mechanism
  • therapeutic agents
  • maternal and fetal medicine
  • pediatric diseases

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Published Papers (1 paper)

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Review

27 pages, 1312 KB  
Review
Ureaplasma Species in Perinatal Disease: From the Age of Innocence to the Missing Villain
by Vlad Dima, Andreea Calomfirescu Avramescu, Andrada Mirea, Adrian Ioan Toma, Roxana-Elena Bohiltea, Anca Bivoleanu and Dan Lee Stewart
Int. J. Mol. Sci. 2026, 27(15), 6865; https://doi.org/10.3390/ijms27156865 - 31 Jul 2026
Viewed by 259
Abstract
Ureaplasma urealyticum and Ureaplasma parvum occupy an odd place in perinatal medicine: dismissed for decades as harmless residents of the female genital tract, they are now recognized as pathogens with real consequences for preterm newborns. This review traces that paradigm shift, from organisms [...] Read more.
Ureaplasma urealyticum and Ureaplasma parvum occupy an odd place in perinatal medicine: dismissed for decades as harmless residents of the female genital tract, they are now recognized as pathogens with real consequences for preterm newborns. This review traces that paradigm shift, from organisms once dismissed as harmless colonizers to pathogens now implicated in chorioamnionitis, preterm birth, and a range of serious neonatal morbidities, and describes the molecular mechanisms that underlie their pathogenicity: Toll-like receptor (TLR1/2/6/9)-mediated NF-κB and MyD88/IRAK4/TRAF6 signaling, NLRP3 inflammasome activation and pyroptosis, and blood–brain barrier disruption via claudin-5/occludin downregulation and MMP-mediated tight junction cleavage. We also review the evidence for biofilm-conferred antibiotic tolerance and the clinical associations between Ureaplasma colonization and intraventricular hemorrhage (pooled OR 1.62, 95% CI 1.23–2.13), bronchopulmonary dysplasia (pooled OR 2.30, 95% CI 1.65–3.20), late-onset sepsis, and neurodevelopmental impairment. Diagnosis remains a weak point: culture sensitivity is below 10% compared with polymerase chain reaction (PCR) testing, and no randomized trial has yet shown that microbiological eradication translates into better clinical outcomes—a gap we examine critically. Whether these organisms cause disease seems to depend on gestational age, bacterial load, serovar-specific virulence, and host immune competence. We argue that this conditionality calls for risk stratification rather than dismissal whenever Ureaplasma is identified in clinical specimens, and that the field needs a paradigm shift toward Ureaplasma screening in high-risk pregnancies and targeted neonatal PCR testing, backed by adequately powered interventional trials. Full article
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