Neural tube defects (NTDs) are the most common congenital anomalies of the CNS. It is widely appreciated that both genetic and environmental factors contribute to their etiology. The inability to ascribe clear genetic patterns of inheritance to various NTD phenotypes suggests it is possible that epigenetic mechanisms are involved in the etiology of NTDs. In this context, the contribution of DNA methylation as an underlying contributing factor to the etiology of NTDs has been extensively reviewed. Here, an updated accounting of the evidence linking post-translational histone modifications to these birth defects, relying heavily upon studies in humans, and the possible molecular implications inferred from reports based on cellular and animal models, are presented.
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http://dx.doi.org/10.2217/epi-2023-0357 | DOI Listing |
CNS Spectr
December 2024
Department of Psychiatry, University of Toronto, Toronto, ON, Canada.
Background: Recent guidance from UK health authorities strongly cautions against the use of valproic acid (VPA) in persons under 55 because of reevaluated risk of teratogenicity.
Objective: To summarize the extant literature documenting VPA-associated anatomical, behavioral, and cognitive teratogenicity.
Method: Pubmed, Medline, Cochrane Library, PsychInfo, Embase, Scopus, Web of Science, and Google Scholar were searched in accordance with PRISMA guidelines.
AJP Rep
July 2024
Department of Obstetrics and Gynecology, College of Medicine and Health Sciences, Bahir Dar University, Bahir Dar, Ethiopia.
Iniencephaly is an extremely rare type of neural tube defect characterized by the fusion of the cervical and cervicothoracic vertebrae. This condition results in acute retroflexion of the head, a short neck, significant lordosis of the cervical spine, and an upturned facial appearance. This condition typically results in poor fetal outcomes, with many cases ending in stillbirth or neonatal death.
View Article and Find Full Text PDFJ Obstet Gynaecol Can
December 2024
Department of Obstetrics and Gynaecology, All India Institute of Medical Sciences, Bhopal, India.
Pak J Med Sci
December 2024
Muhammad Aqeel Natt, MBBS, FCPS (Neurosurgery), Department of Neurosurgery Unit-I, Punjab Institute of Neurosciences, Lahore, Pakistan.
Encephalocele is a congenital neural tube defect (NTD). The pathophysiology of the NTDs is exceedingly complex. Numerous explanations have been proposed to explain it.
View Article and Find Full Text PDFBMC Urol
December 2024
Department of Pediatric Surgery, Faculty of Medicine, Istanbul Medeniyet University, Goztepe Prof. Dr. Suleyman Yalcin City Hospital, Istanbul, Türkiye, Turkey.
Introduction: Spina bifida is a condition that impacts the development of the neural tube leading to urological and gastrointestinal symptoms. Both systems are influenced together due to their shared innervation and embryological origin. Despite its impact on health and well-being there has been limited research on the relationship between manometry results and urodynamic tests, in this patient population.
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