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Pediatric Diseases: From Molecular Mechanisms to Novel Therapeutic Strategies
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Pediatric Diseases: From Molecular Mechanisms to Novel Therapeutic Strategies

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 July 2025 | Viewed by 3755

Special Issue Editor

Dr. Elena Tarca

E-Mail Website
Guest Editor
Surgery II Department—Pediatric Surgery and Othopedics, “Grigore T. Popa” University of Medicine and Pharmacy, 700115 Iasi, Romania
Interests: congenital malformations; maternal and fetal medicine; pediatrics; pediatric surgery; neonatology
Special Issues, Collections and Topics in MDPI journals

Special Issue Information

Dear Colleagues,

The diagnosis and management of the 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, of innovative diagnostic methods, or of 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 of 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 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

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

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Published Papers (3 papers)

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Research

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26 pages, 1292 KiB  
Article
Identification of Genetic Variants Associated with Hereditary Thoracic Aortic Diseases (HTADs) Using Next Generation Sequencing (NGS) Technology and Genotype–Phenotype Correlations
by Lăcrămioara Ionela Butnariu, Georgiana Russu, Alina-Costina Luca, Constantin Sandu, Laura Mihaela Trandafir, Ioana Vasiliu, Setalia Popa, Gabriela Ghiga, Laura Bălănescu and Elena Țarcă
Int. J. Mol. Sci. 2024, 25(20), 11173; https://doi.org/10.3390/ijms252011173 - 17 Oct 2024
Cited by 1 | Viewed by 1368
Abstract
Hereditary thoracic aorta diseases (HTADs) are a heterogeneous group of rare disorders whose major manifestation is represented by aneurysm and/or dissection frequently located at the level of the ascending thoracic aorta. The diseases have an insidious evolution and can be encountered as an [...] Read more.
Hereditary thoracic aorta diseases (HTADs) are a heterogeneous group of rare disorders whose major manifestation is represented by aneurysm and/or dissection frequently located at the level of the ascending thoracic aorta. The diseases have an insidious evolution and can be encountered as an isolated manifestation or can also be associated with systemic, extra-aortic manifestations (syndromic HTADs). Along with the development of molecular testing technologies, important progress has been made in deciphering the heterogeneous etiology of HTADs. The aim of this study is to identify the genetic variants associated with a group of patients who presented clinical signs suggestive of a syndromic form of HTAD. Genetic testing based on next-generation sequencing (NGS) technology was performed using a gene panel (Illumina TruSight Cardio Sequencing Panel) or whole exome sequencing (WES). In the majority of cases (8/10), de novo mutations in the FBN1 gene were detected and correlated with the Marfan syndrome phenotype. In another case, a known mutation in the TGFBR2 gene associated with Loeys–Dietz syndrome was detected. Two other pathogenic heterozygous variants (one de novo and the other a known mutation) in the SLC2A10 gene (compound heterozygous genotype) were identified in a patient diagnosed with arterial tortuosity syndrome (ATORS). We presented the genotype–phenotype correlations, especially related to the clinical evolution, highlighting the particularities of each patient in a family context. We also emphasized the importance of genetic testing and patient monitoring to avoid acute aortic events. Full article
(This article belongs to the Special Issue Pediatric Diseases: From Molecular Mechanisms to Novel Therapeutic Strategies)
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11 pages, 243 KiB  
Article
Investigating Single Nucleotide Polymorphisms in the Etiology of Cleft Lip and Cleft Palate in the Polish Population
by Alicja Zawiślak, Krzysztof Woźniak, Beata Kawala, Satish Gupta, Anna Znamirowska-Bajowska, Katarzyna Grocholewicz, Jan Lubiński and Anna Jakubowska
Int. J. Mol. Sci. 2024, 25(17), 9310; https://doi.org/10.3390/ijms25179310 - 28 Aug 2024
Viewed by 1071
Abstract
Cleft lip and/or palate (CL/P) are the most common congenital anomalies in the craniofacial region, leading to morphological and functional disruptions in the facial region. Their etiology involves genetic and environmental factors, with genetics playing a crucial role. This study aimed to investigate [...] Read more.
Cleft lip and/or palate (CL/P) are the most common congenital anomalies in the craniofacial region, leading to morphological and functional disruptions in the facial region. Their etiology involves genetic and environmental factors, with genetics playing a crucial role. This study aimed to investigate the association of four single nucleotide polymorphisms (SNPs)—rs987525, rs590223, rs522616, and rs4714384—with CL/P in the Polish population. We analyzed DNA samples from 209 individuals with CL/P and 418 healthy controls. The impact of SNPs on the presence of CL/P was assessed using multivariate logistic regression. Significant associations were found with rs987525. Specifically, the AC genotype was linked to an increased CL/P risk (odds ratio [OR] = 1.95, 95% confidence interval [CI]: 1.34–2.83, p < 0.001), while the CC genotype was associated with a decreased risk (OR = 0.46, 95% CI: 0.32–0.67, p < 0.001). Rs4714384 was also significant, with the CT genotype correlated with a reduced risk of CL/P (OR = 0.66, 95% CI: 0.46–0.94, p = 0.011). SNPs rs590223 and rs522616 did not show statistically significant associations. These results underscore the role of rs987525 and rs4714384 in influencing CL/P risk and suggest the utility of genetic screening in understanding CL/P etiology. Full article
(This article belongs to the Special Issue Pediatric Diseases: From Molecular Mechanisms to Novel Therapeutic Strategies)

Review

Jump to: Research

24 pages, 1128 KiB  
Review
Fetoscopic Endoluminal Tracheal Occlusion-Synergic Therapies in the Prenatal Treatment of Congenital Diaphragmatic Hernia
by Zsolt Bara, Horea Gozar, Nándor Nagy, Simona Gurzu, Zoltán Derzsi, Timea Forró, Evelyn Kovács and Ioan Jung
Int. J. Mol. Sci. 2025, 26(4), 1639; https://doi.org/10.3390/ijms26041639 - 14 Feb 2025
Viewed by 804
Abstract
Congenital diaphragmatic hernia (CDH) is a relatively rare and severe developmental disease. Even with the most recent multidisciplinary therapies, the risk for neonatal mortality and morbidity remains high. Recent advancements in prenatal treatments, alongside experimental and clinical data, suggest that fetoscopic endoluminal tracheal [...] Read more.
Congenital diaphragmatic hernia (CDH) is a relatively rare and severe developmental disease. Even with the most recent multidisciplinary therapies, the risk for neonatal mortality and morbidity remains high. Recent advancements in prenatal treatments, alongside experimental and clinical data, suggest that fetoscopic endoluminal tracheal occlusion (FETO) promotes lung development and offers a promising strategy against lung hypoplasia and pulmonary hypertension. It is the only existing direct mechanical therapy that intervenes in the regulation of pulmonary pressure. Its influence on lung development also interferes with tissue homeostasis and cell differentiation; it also enhances inflammation and apoptosis. Its physiopathology on cellular and molecular levels is still poorly understood. Unfortunately, the procedure also carries significant pregnancy-, maternal-, and fetus-related risks. Assessing a multifaceted intervention requires a collective view of all aspects. This scoping review uncovers potential materno-fetal procedure-related risks and highlights innovative solutions. Future research on lung development therapies in CDH may focus on the “dual hit” mechanism, combining molecular-targeting drugs and regenerative medicine with the mechanical nature of FETO for synergistic effects. Full article
(This article belongs to the Special Issue Pediatric Diseases: From Molecular Mechanisms to Novel Therapeutic Strategies)
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