Multiple neural tube defects are relatively rare. They account for less than 1% reported neural tube defects. Cases of limited dorsal myeloschisis (LDM) and diplomyelia (two cords in single sac without intervening bony or fibrous septae) with dorsal bony spur are also a rare event. Here, the authors report a rare case of neonate with thoracic LDM, diplomyelia with dorsal bony spur, sacral meningocoele with syringohydromyelia, and low-lying tethered cord. The child also had a ventricular septal defect (VSD) and bilateral rocker bottom feet. Various environmental factors and genetic mutations in transmembrane proteins have been studied in animal models explaining the origin of neural tube defects. To the best of author's knowledge, this is the first case of varied multiple neural tube defects with diplomyelia reported in world literature.
Download full-text PDF |
Source |
---|---|
http://dx.doi.org/10.1007/s00381-016-3310-0 | DOI Listing |
BMC Cancer
January 2025
Department of Laboratory Medicine, Affiliated Gaozhou People's Hospital, Guangdong Medical University, Maoming, 525200, P.R. China.
Background: DNA hypomethylation and uracil misincorporation into DNA, both of which have a very important correlation with colorectal carcinogenesis. Folate plays a crucial role in DNA synthesis, acting as a coenzyme in one-carbon metabolism, which involves the synthesis of purines, pyrimidines, and methyl groups. MTHFR, a key enzyme in folate metabolism, has been widely studied in relation to neural tube defects and hypertension, but its role in colorectal cancer remains underexplored.
View Article and Find Full Text PDFCureus
December 2024
Obstetrics and Gynecology, Shalamar Medical and Dental College, Lahore, PAK.
Introduction Congenital malformations are a major cause of perinatal morbidity and mortality in developing countries and are assuming greater importance than ever before. They affect a variety of organ systems and various etiologies have been identified in literature including Toxoplasmosis, Other (syphilis, varicella-zoster, parvovirus B19), Rubella, Cytomegalovirus, Herpes Simplex (TORCH) infections, exposure to pollutants, consumption of tobacco and alcohol, and advanced maternal age. In developing countries, diagnosis is frequently delayed which leads to poorer outcomes.
View Article and Find Full Text PDFJ Surg Case Rep
January 2025
Department of Surgery, University of Baghdad, College of Medicine, Baghdad, Iraq.
Spinal dysraphism is the incomplete fusion of the neural arch, which can be seen as an occult or open neural tube defect. Meningoceles are a form of open neural tube defect characterized by cystic dilatation of the meninges containing cerebrospinal fluid without the involvement of neural tissue. Neurosurgical intervention is necessary in the newborn period since survival in advancing ages is often impossible.
View Article and Find Full Text PDFAnal Chem
January 2025
Department of Biomolecular Chemistry, University of Wisconsin-Madison, Madison, Wisconsin 53706, United States.
Peptide ion mobility adds an extra dimension of separation to mass spectrometry-based proteomics. The ability to accurately predict peptide ion mobility would be useful to expedite assay development and to discriminate true answers in a database search. There are methods to accurately predict peptide ion mobility through drift tube devices, but methods to predict mobility through high-field asymmetric waveform ion mobility (FAIMS) are underexplored.
View Article and Find Full Text PDFInt J Mol Sci
January 2025
Department of Developmental and Regenerative Biology, Medical Research Institute, Institute of Science Tokyo, Tokyo 113-8510, Japan.
The eye primordium of vertebrates initially forms exactly at the side of the head. Later, the eyeball architecture is tuned to see ahead with better visual acuity, but its molecular basis is unknown. The position of both eyes in the face alters in patients with holoprosencephaly due to () mutations that disturb the development of the ventral midline of the neural tube.
View Article and Find Full Text PDFEnter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!