-
Congenital Anomalies Jun 2024There is an increase in the worldwide prevalence of congenital abdominal wall defects (CAWD), with gastroschisis (GS) and omphalocele (OC) being the most common. It is... (Review)
Review
There is an increase in the worldwide prevalence of congenital abdominal wall defects (CAWD), with gastroschisis (GS) and omphalocele (OC) being the most common. It is widely accepted that folic acid supplementation (FAS) in the maternal diet decreases the incidence of anomalies such as neural tube defects, but there is controversy regarding the possible beneficial role for other congenital malformations. Several epidemiological studies raise controversy regarding a possible relationship between vitamin supplementation with the occurrence of abdominal wall malformations. The aim of the present study is to obtain an updated review of the global frequency of CAWD in neonates and the relationship with FAS in the mothers. For this we have carried out a systematic search of epidemiological studies in different article databases between 2011 and 2022. The analysis of 25 studies conducted in different countries where cases of OC and/or GS are registered directly or together with other congenital defects shows that 60% inquire into the relationship of FAS with the incidence of CAWD. Half of them proposes a beneficial effect of FAS and the other half find no association, concluding that there is no unanimous evidence that FAS in the maternal diet decreases the incidence of CAWD. However, it seems that an influential factor to take into account is the nutritional habits of the mothers.
PubMed: 38897927
DOI: 10.1111/cga.12576 -
Revista Da Associacao Medica Brasileira... 2024The aim of this study was to understand the dynamics of families with children with myelomeningocele undergoing intrauterine fetal surgery.
OBJECTIVE
The aim of this study was to understand the dynamics of families with children with myelomeningocele undergoing intrauterine fetal surgery.
METHODS
A retrospective cohort pilot study was carried out with 11 mothers of children who had undergone intrauterine myelomeningocele repair. Participants in this study responded to an electronic questionnaire (via Google Forms), developed by the study authors, that consisted of 22 multiple-choice questions, of which 17 were closed-ended and 5 had a standardized format.
RESULTS
The mean (± standard deviation) of the mothers' age was 37.6 (± 3.5) years. The median of gestational age at delivery and birthweight were 34.9 (range, 33 to 36.1) weeks and 2,300 (range, 1,950 to 2,763) g, respectively. The majority of mothers were white (81.8%), had university degree (81.8%), were Catholic (63.6%), and were married (100%). The majority of mothers rated their relationship with their husband, family, and friends as excellent (54.5, 72.7, and 54.5%, respectively). All 11 mothers reported that the newborn with myelomeningocele was born <37 weeks gestation and the birthweight most often<2,500 g. Approximately 64% of the mothers reported that their child required adaptations or had special needs, of which walking aids (50%) and bladder control (50%) were the most common ones.
CONCLUSION
Telemedicine proved to be a useful tool in the long-term follow-up of children who underwent intrauterine surgery to correct myelomeningocele.
Topics: Humans; Meningomyelocele; Pilot Projects; Female; Adult; Retrospective Studies; Mothers; Telemedicine; Surveys and Questionnaires; Pregnancy; Infant, Newborn; Family Relations; Gestational Age
PubMed: 38896734
DOI: 10.1590/1806-9282.20231327 -
Nutrients Jun 2024The nutritional status of the mother-to-be has a key impact on the proper development of the fetus. Although all nutrients are important for the developing baby, recent... (Review)
Review
The nutritional status of the mother-to-be has a key impact on the proper development of the fetus. Although all nutrients are important for the developing baby, recent research indicates the importance of adequate choline intake during the periconceptional period, pregnancy, and lactation. Choline plays a key role in the biosynthesis of cell membranes, supporting liver function, neurotransmission, brain development, and DNA and histone methylation. Choline participates in the formation of a child's nervous system, supports its cognitive development, and reduces the risk of neural tube defects. The human body is incapable of producing sufficient choline to meet its needs; therefore, it must be obtained from the diet. Current data indicate that most women in their reproductive years do not achieve the recommended daily intake of choline. The presented narrative review indicates the importance of educating mothers-to-be and thereby increasing their awareness of the effects of choline on maternal and child health, which can lead to a more aware and healthy pregnancy and proper child development.
Topics: Humans; Choline; Female; Pregnancy; Maternal Nutritional Physiological Phenomena; Diet; Nutritional Status; Child Development; Mothers
PubMed: 38892700
DOI: 10.3390/nu16111767 -
International Journal of Molecular... May 2024Neural tube defects (NTDs), which are caused by impaired embryonic neural tube closure, are one of the most serious and common birth defects. Peptidyl-prolyl cis/trans...
Neural tube defects (NTDs), which are caused by impaired embryonic neural tube closure, are one of the most serious and common birth defects. Peptidyl-prolyl cis/trans isomerase 1 (Pin1) is a prolyl isomerase that uniquely regulates cell signaling by manipulating protein conformation following phosphorylation, although its involvement in neuronal development remains unknown. In this study, we explored the involvement of Pin1 in NTDs and its potential mechanisms both in vitro and in vivo. The levels of Pin1 expression were reduced in NTD models induced by all-trans retinoic acid (Atra). Pin1 plays a significant role in regulating the apoptosis, proliferation, differentiation, and migration of neurons. Moreover, Pin1 knockdown significantly was found to exacerbate oxidative stress (OS) and endoplasmic reticulum stress (ERs) in neuronal cells. Further studies showed that the Notch1-Nrf2 signaling pathway may participate in Pin1 regulation of NTDs, as evidenced by the inhibition and overexpression of the Notch1-Nrf2 pathway. In addition, immunofluorescence (IF), co-immunoprecipitation (Co-IP), and GST pull-down experiments also showed that Pin1 interacts directly with Notch1 and Nrf2. Thus, our study suggested that the knocking down of Pin1 promotes NTD progression by inhibiting the activation of the Notch1-Nrf2 signaling pathway, and it is possible that this effect is achieved by disrupting the interaction of Pin1 with Notch1 and Nrf2, affecting their proteostasis. Our research identified that the regulation of Pin1 by retinoic acid (RA) and its involvement in the development of NTDs through the Notch1-Nrf2 axis could enhance our comprehension of the mechanism behind RA-induced brain abnormalities.
Topics: Tretinoin; NIMA-Interacting Peptidylprolyl Isomerase; Animals; Mice; Neural Tube Defects; Receptor, Notch1; NF-E2-Related Factor 2; Signal Transduction; Down-Regulation; Apoptosis; Oxidative Stress; Neurons; Female; Neural Tube; Endoplasmic Reticulum Stress; Cell Proliferation; Cell Differentiation; Cell Movement; Humans
PubMed: 38891776
DOI: 10.3390/ijms25115588 -
Birth Defects Research Jun 2024Associations between maternal periconceptional exposure to disinfection by-products (DBPs) in drinking water and neural tube defects (NTDs) in offspring are...
BACKGROUND
Associations between maternal periconceptional exposure to disinfection by-products (DBPs) in drinking water and neural tube defects (NTDs) in offspring are inconclusive, limited in part by exposure misclassification.
METHODS
Maternal interview reports of drinking water sources and consumption from the National Birth Defects Prevention Study were linked with DBP concentrations in public water system monitoring data for case children with an NTD and control children delivered during 2000-2005. DBPs analyzed were total trihalomethanes, the five most common haloacetic acids combined, and individual species. Associations were estimated for all NTDs combined and selected subtypes (spina bifida, anencephaly) with maternal periconceptional exposure to DBPs in public water systems and with average daily periconceptional ingestion of DBPs accounting for individual-level consumption and filtration information. Mixed effects logistic regression models with maternal race/ethnicity and educational attainment at delivery as fixed effects and study site as a random intercept were applied.
RESULTS
Overall, 111 case and 649 control children were eligible for analyses. Adjusted odds ratios for maternal exposure to DBPs in public water systems ranged from 0.8-1.5 for all NTDs combined, 0.6-2.0 for spina bifida, and 0.7-1.9 for anencephaly; respective ranges for average daily maternal ingestion of DBPs were 0.7-1.1, 0.5-1.5, and 0.6-1.8. Several positive estimates (≥1.2) were observed, but all confidence intervals included the null.
CONCLUSIONS
Using community- and individual-level data from a large, US, population-based, case-control study, we observed statistically nonsignificant associations between maternal periconceptional exposure to total and individual DBP species in drinking water and NTDs and subtypes.
Topics: Humans; Female; Drinking Water; Neural Tube Defects; Pregnancy; Maternal Exposure; Disinfection; Adult; Case-Control Studies; Disinfectants; Water Purification; Trihalomethanes; Male; Water Pollutants, Chemical; Prenatal Exposure Delayed Effects; Spinal Dysraphism
PubMed: 38888449
DOI: 10.1002/bdr2.2370 -
BMJ Case Reports Jun 2024The authors were presented with a term female neonate with a large occipital mass, who was already being treated for neonatal pneumonia at another hospital. On...
The authors were presented with a term female neonate with a large occipital mass, who was already being treated for neonatal pneumonia at another hospital. On assessment, apart from the mass, the patient presented with an unremarkable systemic and neurological physical examination. She underwent repair of the occipital mass, which was complicated by nosocomial ventriculitis. However, the patient was discharged well after completing antibiotic treatment. On regular outpatient follow-ups, the patient presented with a good cry, suck, and activity. There have been no reports of seizures, decrease in sensorium, aspiration episodes, stridor or any other complaints, apart from poor head and sitting control. The workup also showed profound bilateral hearing loss. Despite these complications, the patient currently exhibits good visual and social development. This is attributed to timely intervention as well as the minimal amount of herniated cerebellar tissue that the patient presented with, highlighting the individualised management and outcomes for cases of Chiari malformation type III.
Topics: Humans; Female; Arnold-Chiari Malformation; Infant, Newborn; Magnetic Resonance Imaging; Treatment Outcome
PubMed: 38886000
DOI: 10.1136/bcr-2023-259479 -
Advances in Experimental Medicine and... 2024The major events of cardiac development, including early heart formation, chamber morphogenesis and septation, and conduction system and coronary artery development, are... (Review)
Review
The major events of cardiac development, including early heart formation, chamber morphogenesis and septation, and conduction system and coronary artery development, are briefly reviewed together with a short introduction to the animal species commonly used to study heart development and model congenital heart defects (CHDs).
Topics: Animals; Heart Defects, Congenital; Disease Models, Animal; Heart; Humans; Mice; Morphogenesis
PubMed: 38884705
DOI: 10.1007/978-3-031-44087-8_3 -
Acta Neurochirurgica Jun 2024Myelocele is a rare form of open spina bifida. Surgical repair is recommended prenatally or in the first 48 h. In some cases, the repair may be delayed, and specific...
BACKGROUND
Myelocele is a rare form of open spina bifida. Surgical repair is recommended prenatally or in the first 48 h. In some cases, the repair may be delayed, and specific surgical factors need to be considered.
METHOD
We give a brief overview of the surgical anatomy, followed by a description of the surgical repair of a thoracolumbar Myelocele in an 11-month-old child.
CONCLUSION
Surgical repair of the Myelocele stabilizes the neurological status, prevents local and central nervous system infections. The understanding of Myelocele anatomy enables its removal while preserving as much healthy tissue as possible and restoring normal anatomy.
Topics: Humans; Thoracic Vertebrae; Infant; Lumbar Vertebrae; Meningomyelocele; Neurosurgical Procedures; Treatment Outcome; Male; Spinal Dysraphism; Magnetic Resonance Imaging
PubMed: 38884665
DOI: 10.1007/s00701-024-06163-2 -
Phenomics (Cham, Switzerland) Apr 2024The Shroom (Shrm) family of actin-binding proteins has a unique and highly conserved Apx/Shrm Domain 2 (ASD2) motif. Shroom protein directs the subcellular localization... (Review)
Review
The Shroom (Shrm) family of actin-binding proteins has a unique and highly conserved Apx/Shrm Domain 2 (ASD2) motif. Shroom protein directs the subcellular localization of Rho-associated kinase (ROCK), which remodels the actomyosin cytoskeleton and changes cellular morphology via its ability to phosphorylate and activate non-muscle myosin II. Therefore, the Shrm-ROCK complex is critical for the cellular shape and the development of many tissues, including the neural tube, eye, intestines, heart, and vasculature system. Importantly, the structure and expression of Shrm proteins are also associated with neural tube defects, chronic kidney disease, metastasis of carcinoma, and X-link mental retardation. Therefore, a better understanding of Shrm-mediated signaling transduction pathways is essential for the development of new therapeutic strategies to minimize damage resulting in abnormal Shrm proteins. This paper provides a comprehensive overview of the various Shrm proteins and their roles in morphogenesis and disease.
PubMed: 38884059
DOI: 10.1007/s43657-023-00119-9 -
Research Square Jun 2024Mesenchymal stem cells (MSCs) from gestational tissues represent promising strategies for treatment of congenital malformations, but plasticity and required high-risk...
BACKGROUND
Mesenchymal stem cells (MSCs) from gestational tissues represent promising strategies for treatment of congenital malformations, but plasticity and required high-risk surgical procedures limit their use. Here we propose natural exosomes (EXOs) isolated from amniotic fluid-MSCs (AF-MSCs), and their mimetic counterparts (MIMs), as valid, stable, and minimally invasive therapeutic alternatives.
METHODS
MIMs were generated from AF-MSCs by combining sequential filtration steps through filter membranes with different porosity and size exclusion chromatography columns. Physiochemical and molecular characterization was performed to compare them to EXOs released from the same number of cells. The possibility to exploit both formulations as mRNA-therapeutics was explored by evaluating cell uptake (using two different cell types, fibroblasts, and macrophages) and mRNA functionality overtime in an experimental setting as well as in an , whole embryo culture using pregnant C57BL6 dams.
RESULTS
Molecular and physiochemical characterization showed no differences between EXOs and MIMs, with MIMs determining a 3-fold greater yield. MIMs delivered a more intense and prolonged expression of mRNA encoding for green fluorescent protein (GFP) in macrophages and fibroblasts. An whole embryo culture demonstrated that MIMs mainly accumulate at the level of the yolk sac, while EXOs reach the embryo.
CONCLUSIONS
The present data confirms the potential application of EXOs for the prenatal repair of neural tube defects and proposes MIMs as prospective vehicles to prevent congenital malformations caused by exposure to drugs.
PubMed: 38883749
DOI: 10.21203/rs.3.rs-4325422/v1