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Life
Special Issues
From Stem Cells to Embryos, Congenital Anomalies and Epidemiology
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From Stem Cells to Embryos, Congenital Anomalies and Epidemiology

A special issue of Life (ISSN 2075-1729). This special issue belongs to the section "Epidemiology".

Deadline for manuscript submissions: 30 June 2025 | Viewed by 9651

Special Issue Editors

Dr. Maria Eleni Manthou

E-Mail Website
Guest Editor
Laboratory of Histology-Embryology, Medical Department, Aristotle University of Thessaloniki, Thessaloniki, Greece
Interests: histology; embryology; cell cultures; electron microscopy
Special Issues, Collections and Topics in MDPI journals
Prof. Dr. Soultana Meditskou

E-Mail Website
Guest Editor
Department of Histology-Embryology, School of Medicine, Aristotle University of Thessaloniki, 54655 Thessaloniki, Greece
Interests: histology; embryology; histopathology (surgical anatomy)
Special Issues, Collections and Topics in MDPI journals
Dr. Paschalis Theotokis

E-Mail Website
Guest Editor
Department of Histology-Embryology, School of Medicine, Aristotle University of Thessaloniki, 54655 Thessaloniki, Greece
Interests: neuroscience; multiple sclerosis; experimental autoimmune encephalomyelitis; intrathecal transplantation; stem cell differentiation; immunohistopathology; in situ hybridization; electron microscopy
Special Issues, Collections and Topics in MDPI journals

Special Issue Information

Dear Colleagues,

This special issue explores the dynamic intersection of stem cell research, embryonic development, congenital anomalies, and their relationship with epidemiological factors. Stem cells, with their transformative potential, and the pathways of differentiation are central to understanding the earliest stages of human development. By investigating the intricacies of how stem cells differentiate and give rise to various cell types, researchers gain insights into the origins of congenital anomalies. Moreover, this special issue delves into the epidemiological factors that influence the prevalence and distribution of these anomalies. Globally, approximately 3% to 6% of newborns are affected by a significant birth defect each year. It's important to note that these statistics represent actual children and their families. Understanding how congenital anomalies affect different populations and how epidemiological factors play a role is essential for epidemiological surveillance, prediction and prevention through various measurements and prenatal screening of congenital anomalies and generally for tailored healthcare and intervention strategies.

Dr. Maria Eleni Manthou
Prof. Dr. Soultana Meditskou
Dr. Paschalis Theotokis
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.

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. Life is an international peer-reviewed open access monthly journal published by MDPI.

Please visit the Instructions for Authors page before submitting a manuscript. The Article Processing Charge (APC) for publication in this open access journal is 2600 CHF (Swiss Francs). 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

  • stem cell research
  • human embryonic development
  • birth defects epidemiology
  • birth defects prevalence
  • maternal and fetal medicine
  • congenital anomalies prevention
  • ultrasound evaluation
  • pre-birth assessment
  • prenatal screening
  • healthcare

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Published Papers (6 papers)

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Research

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15 pages, 1303 KiB  
Article
Consequences of Maternal Vitamin D Deficiency on Newborn Health
by Ramona Elena Dragomir, Daniela Oana Toader, Daniela Elena Gheoca Mutu, Iulian Alexandru Dogaru, Laura Răducu, Laurențiu Cezar Tomescu, Lavinia Cristina Moleriu, Anca Bordianu, Ion Petre and Ruxandra Stănculescu
Life 2024, 14(6), 714; https://doi.org/10.3390/life14060714 - 31 May 2024
Cited by 3 | Viewed by 1074
Abstract
Background and Objectives: Maternal–fetal gestational pathology is one of the biggest challenges in the field of health at this moment. The current study is designed to determine the effects of vitamin D on pregnancy, starting with the idea that impairment of vitamin D [...] Read more.
Background and Objectives: Maternal–fetal gestational pathology is one of the biggest challenges in the field of health at this moment. The current study is designed to determine the effects of vitamin D on pregnancy, starting with the idea that impairment of vitamin D status is thought to be correlated with impairment of the newborn’s health. Materials and Methods: In this retrospective study, we tried to establish the link between vitamin D deficiency and maternal characteristics and also how it impacted the clinical status of the newborn. We analyzed a group of 260 patients: 130 pregnant women and 130 newborns, in whom vitamin D status was detected using the serum levels of 25-hydroxyvitamin D (25-(OH)D). Results: The results showed that vitamin D deficiency has a high incidence among pregnant women, as was presented in many important international studies. Our study also showed a positive, direct correlation between the mother’s and newborn’s vitamin D status. Conclusions: Taking into consideration that vitamin D deficiency has been correlated with many complications, both in maternal and newborn health, a serum level determination of 25-(OH)D is necessary in the first trimester of pregnancy, and after that, adequate supplementation is necessary in order to prevent any negative effects. Full article
(This article belongs to the Special Issue From Stem Cells to Embryos, Congenital Anomalies and Epidemiology)
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Review

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21 pages, 550 KiB  
Review
Application of Mesenchymal Stem Cells in Female Infertility Treatment: Protocols and Preliminary Results
by Sofia Chatzianagnosti, Iasonas Dermitzakis, Paschalis Theotokis, Eleni Kousta, George Mastorakos and Maria Eleni Manthou
Life 2024, 14(9), 1161; https://doi.org/10.3390/life14091161 - 13 Sep 2024
Viewed by 1660
Abstract
Infertility is a global phenomenon that impacts people of both the male and the female sex; it is related to multiple factors affecting an individual’s overall systemic health. Recently, investigators have been using mesenchymal stem cell (MSC) therapy for female-fertility-related disorders such as [...] Read more.
Infertility is a global phenomenon that impacts people of both the male and the female sex; it is related to multiple factors affecting an individual’s overall systemic health. Recently, investigators have been using mesenchymal stem cell (MSC) therapy for female-fertility-related disorders such as polycystic ovarian syndrome (PCOS), premature ovarian failure (POF), endometriosis, preeclampsia, and Asherman syndrome (AS). Studies have shown promising results, indicating that MSCs can enhance ovarian function and restore fertility for affected individuals. Due to their regenerative effects and their participation in several paracrine pathways, MSCs can improve the fertility outcome. However, their beneficial effects are dependent on the methodologies and materials used from isolation to reimplantation. In this review, we provide an overview of the protocols and methods used in applications of MSCs. Moreover, we summarize the findings of published preclinical studies on infertility treatments and discuss the multiple properties of these studies, depending on the isolation source of the MSCs used. Full article
(This article belongs to the Special Issue From Stem Cells to Embryos, Congenital Anomalies and Epidemiology)
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26 pages, 997 KiB  
Review
Prenatal Nutritional Factors and Neurodevelopmental Disorders: A Narrative Review
by Federica Cernigliaro, Andrea Santangelo, Rosaria Nardello, Salvatore Lo Cascio, Sofia D’Agostino, Edvige Correnti, Francesca Marchese, Renata Pitino, Silvia Valdese, Carmelo Rizzo, Vincenzo Raieli and Giuseppe Santangelo
Life 2024, 14(9), 1084; https://doi.org/10.3390/life14091084 - 29 Aug 2024
Viewed by 2468
Abstract
According to the DSM-5, neurodevelopmental disorders represent a group of heterogeneous conditions, with onset during the developmental period, characterized by an alteration of communication and social skills, learning, adaptive behavior, executive functions, and psychomotor skills. These deficits determine an impairment of personal, social, [...] Read more.
According to the DSM-5, neurodevelopmental disorders represent a group of heterogeneous conditions, with onset during the developmental period, characterized by an alteration of communication and social skills, learning, adaptive behavior, executive functions, and psychomotor skills. These deficits determine an impairment of personal, social, scholastic, or occupational functioning. Neurodevelopmental disorders are characterized by an increased incidence and a multifactorial etiology, including genetic and environmental components. Data largely explain the role of genetic and environmental factors, also through epigenetic modifications such as DNA methylation and miRNA. Despite genetic factors, nutritional factors also play a significant role in the pathophysiology of these disorders, both in the prenatal and postnatal period, underscoring that the control of modifiable factors could decrease the incidence of neurodevelopmental disorders. The preventive role of nutrition is widely studied as regards many chronic diseases, such as diabetes, hypertension, and cancer, but actually we also know the effects of nutrition on embryonic brain development and the influence of prenatal and preconceptional nutrition in predisposition to various pathologies. These factors are not limited only to a correct caloric intake and a good BMI, but rather to an adequate and balanced intake of macro and micronutrients, the type of diet, and other elements such as exposure to heavy metals. This review represents an analysis of the literature as regards the physiopathological mechanisms by which food influences our state of health, especially in the age of development (from birth to adolescence), through prenatal and preconceptional changes, underlying how controlling these nutritional factors should improve mothers’ nutritional state to significantly reduce the risk of neurodevelopmental disorders in offspring. We searched key words such as “maternal nutrition and neurodevelopmental disorders” on Pubmed and Google Scholar, selecting the main reviews and excluding individual cases. Therefore, nutrigenetics and nutrigenomics teach us the importance of personalized nutrition for good health. So future perspectives may include well-established reference values in order to determine the correct nutritional intake of mothers through food and integration. Full article
(This article belongs to the Special Issue From Stem Cells to Embryos, Congenital Anomalies and Epidemiology)
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18 pages, 342 KiB  
Review
Gut Microbiota, Inflammation, and Probiotic Supplementation in Fetal Growth Restriction—A Comprehensive Review of Human and Animal Studies
by Naser A. Alsharairi and Li Li
Life 2023, 13(12), 2239; https://doi.org/10.3390/life13122239 - 21 Nov 2023
Cited by 2 | Viewed by 2302
Abstract
Fetal growth restriction (FGR) is a pathological state that represents a fetus’s inability to achieve adequate growth during pregnancy. Several maternal, placental, and fetal factors are likely associated with FGR etiology. FGR is linked to severe fetal and neonatal complications, as well as [...] Read more.
Fetal growth restriction (FGR) is a pathological state that represents a fetus’s inability to achieve adequate growth during pregnancy. Several maternal, placental, and fetal factors are likely associated with FGR etiology. FGR is linked to severe fetal and neonatal complications, as well as adverse health consequences in adulthood. Numerous randomized controlled trials (RCTs) have demonstrated improved growth in FGR fetuses with promising treatment strategies such as maternal micronutrient, amino acid, and nitric oxide supplementation. Elevated inflammation in pregnant women diagnosed with FGR has been associated with an imbalance between pro- and anti-inflammatory cytokines. Gut microbiota dysbiosis may result in increased FGR-related inflammation. Probiotic treatment may relieve FGR-induced inflammation and improve fetal growth. The aim of this review is to provide an overview of the gut microbiota and inflammatory profiles associated with FGR and explore the potential of probiotics in treating FGR. Full article
(This article belongs to the Special Issue From Stem Cells to Embryos, Congenital Anomalies and Epidemiology)

Other

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8 pages, 2213 KiB  
Case Report
Congenital Pulmonary Airway Malformation in Preterm Infants: A Case Report and Review of the Literature
by Alessia Bertolino, Silvia Bertolo, Paola Lago and Paola Midrio
Life 2024, 14(8), 990; https://doi.org/10.3390/life14080990 - 9 Aug 2024
Viewed by 814
Abstract
Congenital pulmonary airway malformations (CPAMs) represent a well-known cluster of rare lung malformations affecting 1 in 2500 live births. The natural history of many CPAMs is to increase their size in the second trimester, reach a plateau, and, in about 50% of cases, [...] Read more.
Congenital pulmonary airway malformations (CPAMs) represent a well-known cluster of rare lung malformations affecting 1 in 2500 live births. The natural history of many CPAMs is to increase their size in the second trimester, reach a plateau, and, in about 50% of cases, regress and to become barely detectable during the third trimester. Little is known about cases of affected neonates born prematurely: only six cases are described in the literature, recording different conduct and outcomes. Herein, we report the case of a very low birth weight infant born at GW 28 without antenatal findings and presenting at birth with severe respiratory distress, requiring ventilation. Chest X-rays and a CT scan showed the presence of a solid mass in the left lung. An initial conservative approach was adopted as the baby gained respiratory stability within the first days of life. Routine ultrasound (US) showed a progressive reduction of the lesion, mimicking the process of involution that CPAM can exhibit during late gestation. The rarity of the condition does not allow the formulation of any suggestions regarding one type of management over the other. An initial conservative approach seems to be appropriate with regards to the outcome and possible intra- and post-operative complications. Full article
(This article belongs to the Special Issue From Stem Cells to Embryos, Congenital Anomalies and Epidemiology)
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15 pages, 4687 KiB  
Protocol
β3-adREnoceptor Analysis in CORD Blood of Neonates (β3 RECORD): Study Protocol of a Pilot Clinical Investigation
by Rosa Teresa Scaramuzzo, Stefania Crucitta, Marzia del Re, Maurizio Cammalleri, Paola Bagnoli, Massimo Dal Monte, Alessandro Pini and Luca Filippi
Life 2024, 14(6), 776; https://doi.org/10.3390/life14060776 - 19 Jun 2024
Viewed by 812
Abstract
Background and Objective: The embryo and the fetus develop in a physiologically hypoxic environment, where vascularization is sustained by HIF-1, VEGF, and the β-adrenergic system. In animals, β3-adrenoceptors (β3-ARs), up-regulated by hypoxia, favor global fetal wellness to such an extent that most [...] Read more.
Background and Objective: The embryo and the fetus develop in a physiologically hypoxic environment, where vascularization is sustained by HIF-1, VEGF, and the β-adrenergic system. In animals, β3-adrenoceptors (β3-ARs), up-regulated by hypoxia, favor global fetal wellness to such an extent that most diseases related to prematurity are hypothesized to be induced or aggravated by a precocious β3-AR down-regulation, due to premature exposure to a relatively hyperoxic environment. In animals, β3-AR pharmacological agonism is currently investigated as a possible new therapeutic opportunity to counteract oxygen-induced damages. Our goal is to translate the knowledge acquired in animals to humans. Recently, we have demonstrated that fetuses become progressively more hypoxemic from mid-gestation to near-term, but starting from the 33rd–34th week, oxygenation progressively increases until birth. The present paper aims to describe a clinical research protocol, evaluating whether the expression level of HIF-1, β3-ARs, and VEGF is modulated by oxygen during intrauterine and postnatal life, in a similar way to animals. Materials and Methods: In a prospective, non-profit, single-center observational study we will enroll 100 preterm (group A) and 100 full-term newborns (group B). We will collect cord blood samples (T0) and measure the RNA expression level of HIF-1, β3-ARs, and VEGF by digital PCR. In preterms, we will also measure gene expression at 48–72h (T1), 14 days (T2), and 30 days (T3) of life and at 40 ± 3 weeks of post-menstrual age (T4), regardless of the day of life. We will compare group A (T0) vs. group B (T0) and identify any correlations between the values obtained from serial samples in group A and the clinical data of the patients. Our protocol has been approved by the Pediatric Ethical Committee for Clinical Research of the Tuscany region (number 291/2022). Expected Results: The observation that in infants, the HIF-1/β3-ARs/VEGF axis shows similar modulation to that of animals could suggest that β3-ARs also promote fetal well-being in humans. Full article
(This article belongs to the Special Issue From Stem Cells to Embryos, Congenital Anomalies and Epidemiology)
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