This is a retrospective study on the rate of inborn defects of neural tube in University Hospital of Obstetrics and Gynaecology--Sofia for two 5-years-long periods of time: from 1986 to 1990 and from 1993 to 1997. The results show an increasing rate of inborn NTD during the second period of time which can be partly explained by the fact that the hospital is National Perinatal Centre where high risk pregnancies and deliveries are concentrated. Most disturbing is the fact that more than half of life-born and still-born infants with NTD are at an age of gestation higher than 34 g.w. This is a result of late perinatal diagnosis of these defects and brings up serious psychological, social and economical problems.
Download full-text PDF |
Source |
---|
Birth Defects Res
January 2025
Department of Zoology, University of Calcutta, Kolkata, India.
Background: Neural tube defects (NTDs) are defined as an incomplete closure of the neural tube (NT), with a prevalence of 1.2 per 1000 live births around the world. Methylation of the maternally imprinted gene Insulin-like growth factor 2 (IGF2) is one of the epigenetic mechanisms that contribute significantly to the development of NTDs.
View Article and Find Full Text PDFJAMA Pediatr
January 2025
Department of Pathology and Laboratory Medicine, Perelman School of Medicine, University of Pennsylvania, Philadelphia.
Cureus
December 2024
Radiology, SRM Medical College Hospital and Research Center, Chennai, IND.
Intraoperative neurophysiological monitoring (IONM) has achieved popularity because it facilitates monitoring of the functional integrity of neural structures under general anesthesia. It aids in the early detection of injury and minimizes postoperative neurologic deficit or neurologic morbidity from surgical manipulations of various neurologic structures. The patient mentioned in this case report presented with lower limb radiculopathy and was diagnosed with diastematomyelia Type II, and she was planned for surgical intervention under general anesthesia.
View Article and Find Full Text PDFDev Biol
January 2025
Department of Molecular, Cellular and Development Biology, University of Colorado, Boulder, CO 80309. Electronic address:
Folic acid (FA) supplementation is a potent tool to reduce devastating birth defects known as neural tube defects (NTDs). Though effective, questions remain how FA achieves its protective effect and which gene mutations are sensitive to folic acid levels. We explore the relationship between FA dosage and NTD rates using NTD mouse models.
View Article and Find Full Text PDFNat Commun
January 2025
Shanghai Institute of Precision Medicine, Ninth People's Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, China.
Vangl is a planar cell polarity (PCP) core protein essential for aligned cell orientation along the epithelial plane perpendicular to the apical-basal direction, which is important for tissue morphogenesis, development and collective cell behavior. Mutations in Vangl are associated with developmental defects, including neural tube defects (NTDs), according to human cohort studies of sporadic and familial cases. The complex mechanisms underlying Vangl-mediated PCP signaling or Vangl-associated human congenital diseases have been hampered by the lack of molecular characterizations of Vangl.
View Article and Find Full Text PDFEnter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!