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Advances and Technical Standards in... 2024Tethered cord syndrome is a condition in which the spinal cord is tethered by pathological structures such as a tight filum terminale, intradural lipomas with or without...
Tethered cord syndrome is a condition in which the spinal cord is tethered by pathological structures such as a tight filum terminale, intradural lipomas with or without a connecting extradural component, intradural fibrous adhesions, diastematomyelia, and neural placode adhesions following closure of a myelomeningocele.It usually occurs in childhood and adolescence as the spine grows in length, but it can also develop in adulthood. Symptoms of tethered cord syndrome are slowly progressive and varied. Incorrect diagnosis and inappropriate treatment may be provided if the physician lacks knowledge and understanding of this disease.This chapter aims to describe the pathophysiology, syndromes, diagnostic imaging, surgical treatment, and prognosis of tethered cord syndrome to enhance the understanding of this condition.
Topics: Humans; Neural Tube Defects; Neurosurgical Procedures
PubMed: 38700679
DOI: 10.1007/978-3-031-42398-7_3 -
Genesis (New York, N.Y. : 2000) Nov 2021Neural tube defects (NTDs) are among the most common birth defects, with a prevalence of close to 19 per 10,000 births worldwide. The etiology of NTDs is complex... (Review)
Review
Neural tube defects (NTDs) are among the most common birth defects, with a prevalence of close to 19 per 10,000 births worldwide. The etiology of NTDs is complex involving the interplay of genetic and environmental factors. Since nutrient deficiency is a risk factor and dietary changes are the major preventative measure to reduce the risk of NTDs, a more detailed understanding of how common micronutrient imbalances contribute to NTDs is crucial. While folic acid has been the most discussed environmental factor due to the success that population-wide fortification has had on prevention of NTDs, folic acid supplementation does not prevent all NTDs. The imbalance of several other micronutrients has been implicated as risks for NTDs by epidemiological studies and in vivo studies in animal models. In this review, we highlight recent literature deciphering the multifactorial mechanisms underlying NTDs with an emphasis on mouse and human data. Specifically, we focus on advances in our understanding of how too much or too little retinoic acid, zinc, and iron alter gene expression and cellular processes contributing to the pathobiology of NTDs. Synthesis of the discussed literature reveals common cellular phenotypes found in embryos with NTDs resulting from several micronutrient imbalances. The goal is to combine knowledge of these common cellular phenotypes with mechanisms underlying micronutrient imbalances to provide insights into possible new targets for preventative measures against NTDs.
Topics: Animals; Gene-Environment Interaction; Humans; Micronutrients; Neural Tube Defects
PubMed: 34665506
DOI: 10.1002/dvg.23455 -
Reproductive Toxicology (Elmsford, N.Y.) Oct 2018The cause and effect relationship between environmental factors, including toxins (naturally occuring) and toxicants (man-made environmental contaminants), and neural... (Review)
Review
The cause and effect relationship between environmental factors, including toxins (naturally occuring) and toxicants (man-made environmental contaminants), and neural tube defects is well-established. More recent evidence has demonstrated a requirement for the claudin family of tight junction proteins in regulating epithelial remodelling events that transform the plate neural plate into a closed tube. At the molecular level, toxicants are known to disrupt claudin expression and tight junction barrier function. In this review we consider the evidence leading to the hypothesis that toxins and toxicants affect neural tube closure due to their effects on the claudin family of tight junction proteins.
Topics: Animals; Claudins; Environmental Pollutants; Humans; Neural Tube Defects; Neurotoxins; Tight Junctions
PubMed: 30086342
DOI: 10.1016/j.reprotox.2018.08.008 -
Birth Defects Research Jan 2017Susceptibility to neural tube defects (NTDs), such as anencephaly and spina bifida is influenced by genetic and environmental factors including maternal nutrition.... (Review)
Review
Susceptibility to neural tube defects (NTDs), such as anencephaly and spina bifida is influenced by genetic and environmental factors including maternal nutrition. Maternal periconceptional supplementation with folic acid significantly reduces the risk of an NTD-affected pregnancy, but does not prevent all NTDs, and "folic acid non-responsive" NTDs continue to occur. Similarly, among mouse models of NTDs, some are responsive to folic acid but others are not. Among nutritional factors, inositol deficiency causes cranial NTDs in mice while supplemental inositol prevents spinal and cranial NTDs in the curly tail (Grhl3 hypomorph) mouse, rodent models of hyperglycemia or induced diabetes, and in a folate-deficiency induced NTD model. NTDs also occur in mice lacking expression of certain inositol kinases. Inositol-containing phospholipids (phosphoinositides) and soluble inositol phosphates mediate a range of functions, including intracellular signaling, interaction with cytoskeletal proteins, and regulation of membrane identity in trafficking and cell division. Myo-inositol has been trialed in humans for a range of conditions and appears safe for use in human pregnancy. In pilot studies in Italy and the United Kingdom, women took inositol together with folic acid preconceptionally, after one or more previous NTD-affected pregnancies. In nonrandomized cohorts and a randomized double-blind study in the United Kingdom, no recurrent NTDs were observed among 52 pregnancies reported to date. Larger-scale fully powered trials are needed to determine whether supplementation with inositol and folic acid would more effectively prevent NTDs than folic acid alone. Birth Defects Research 109:68-80, 2017. © 2016 The Authors Birth Defects Research Published by Wiley Periodicals, Inc.
Topics: Animals; Clinical Trials as Topic; Dietary Supplements; Disease Models, Animal; Female; Folic Acid; Folic Acid Deficiency; Humans; Inositol; Inositol Phosphates; Maternal Nutritional Physiological Phenomena; Mice; Neural Tube; Neural Tube Defects; Phosphatidylinositols; Pregnancy
PubMed: 27324558
DOI: 10.1002/bdra.23533 -
Birth Defects Research Aug 2019
Topics: Humans; Neural Tube Defects
PubMed: 31215175
DOI: 10.1002/bdr2.1519 -
Child's Nervous System : ChNS :... Oct 2021Tethered cord syndrome (TCS) is an amalgamation of neurological, urological, orthopedic, and dermatologic signs and symptoms with radiographic evidence of a thickened... (Review)
Review
INTRODUCTION
Tethered cord syndrome (TCS) is an amalgamation of neurological, urological, orthopedic, and dermatologic signs and symptoms with radiographic evidence of a thickened filum and low-lying conus. Surgical sectioning of the filum and disconnection of any tethering entities such as dermal sinus tracts or lipomas has been shown to improve outcomes. The manifestation of TCS symptoms in the absence of a low-lying conus has been referred to as occult tethered cord syndrome (OTCS) and is much less well reviewed in the literature. To date, there has only been one randomized controlled trial examining the effect of intervention in OTCS; therefore, contemporary data is often elicited from limited cohorts.
OBJECTIVE
To perform a comprehensive literature review of management in OTCS and evaluate treatment response rates to sectioning of the filum terminale.
RESULTS
Seventeen papers met inclusion criteria for our review. Sample sizes ranged from 8 to 60 children, and results were mixed, often dependent on study design, definition of typical OTCS symptoms, and follow-up intervals. Symptomatic improvement was observed in > 50% of patients for all but one study; however, the recurrence rates were highly variable.
CONCLUSION
The data regarding the efficacy of surgical treatment in OTCS is mixed and merits more rigorous scientific examination with strict and clear parameters regarding symptomatic operationalization and follow-up time points to monitor for TCS recurrence.
Topics: Cauda Equina; Child; Humans; Lipoma; Neoplasm Recurrence, Local; Neural Tube Defects
PubMed: 34268593
DOI: 10.1007/s00381-021-05287-5 -
Journal of Pediatric Rehabilitation... Dec 2017It has been estimated that 60-70% of neural tube defects (NTDs) have a genetic component, but few causative genes have been identified. The lack of information on genes... (Review)
Review
It has been estimated that 60-70% of neural tube defects (NTDs) have a genetic component, but few causative genes have been identified. The lack of information on genes associated with non-syndromic NTDs in humans is especially notable as the "genomic revolution" has led to new tools (e.g., genome-wide genotyping arrays, next-generation sequencing) that are helping to elucidate the full spectrum of genetic variation (from common to rare) contributing to complex traits, including structural birth defects. However, the application of modern genomic approaches to the study of NTDs has lagged behind that of some other common structural birth defects. This may be due to the difficulty of assembling large study cohorts for anencephaly or spina bifida. The purpose of this review is to outline the evolution of genetic studies of NTDs, from studies of familial aggregation to candidate gene and genome-wide association studies, through whole-exome and whole-genome sequencing. Strategies for addressing gaps in NTD genetic research are also explored.
Topics: Europe; Genetic Markers; Genetic Predisposition to Disease; Genome-Wide Association Study; Humans; Molecular Epidemiology; Neural Tube Defects; United States; Exome Sequencing; Whole Genome Sequencing
PubMed: 29125517
DOI: 10.3233/PRM-170456 -
Frontiers in Immunology 2022The fortification of flour with folic acid for the prevention of neural tube defects (NTD) is currently mandated in over eighty countries worldwide, hence compelling its...
The fortification of flour with folic acid for the prevention of neural tube defects (NTD) is currently mandated in over eighty countries worldwide, hence compelling its consumption by the greater part of the world's population. Notwithstanding its beneficial impact on rates of NTD, pervasive folic acid supplementation has invariably led to additive daily intakes reaching well beyond their original target, resulting in the circulation of unmetabolized folic acid. Associated idiopathic side-effects ranging from allergies to cancer have been suggested, albeit inconclusively. Herein, we hypothesize that their inconsistent detection and elusive etiology are linked to the generation of the immunosuppressive folic acid metabolite 6-formylpterin, which interferes with the still emerging and varied functions of Major Histocompatibility Complex-related molecule 1 (MR1)-restricted T cells. Accordingly, we predict that fortification-related adverse health outcomes can be eliminated by substituting folic acid with the bioequivalent folate vitamer 5-methyltetrahydrofolate, which does not break down into 6-formylpterin.
Topics: Drug-Related Side Effects and Adverse Reactions; Flour; Folic Acid; Food, Fortified; Histocompatibility Antigens Class I; Humans; Minor Histocompatibility Antigens; Neural Tube Defects
PubMed: 36016938
DOI: 10.3389/fimmu.2022.946713 -
Child's Nervous System : ChNS :... Sep 2014
Topics: Female; Humans; Lumbar Vertebrae; Neural Tube Defects
PubMed: 25008124
DOI: 10.1007/s00381-014-2486-4 -
Current Opinion in Pediatrics Dec 2019An update is presented regarding neural tube defects (NTDs) including spina bifida and anencephaly, which are among the most common serious birth defects world-wide.... (Review)
Review
PURPOSE OF REVIEW
An update is presented regarding neural tube defects (NTDs) including spina bifida and anencephaly, which are among the most common serious birth defects world-wide. Decades of research suggest that no single factor is responsible for neurulation failure, but rather NTDs arise from a complex interplay of disrupted gene regulatory networks, environmental influences and epigenetic regulation. A comprehensive understanding of these dynamics is critical to advance NTD research and prevention.
RECENT FINDINGS
Next-generation sequencing has ushered in a new era of genomic insight toward NTD pathophysiology, implicating novel gene associations with human NTD risk. Ongoing research is moving from a candidate gene approach toward genome-wide, systems-based investigations that are starting to uncover genetic and epigenetic complexities that underlie NTD manifestation.
SUMMARY
Neural tube closure is critical for the formation of the human brain and spinal cord. Broader, more all-inclusive perspectives are emerging to identify the genetic determinants of human NTDs.
Topics: Epigenesis, Genetic; Female; Humans; Mutation; Neural Tube Defects; Pregnancy; Spinal Dysraphism
PubMed: 31693581
DOI: 10.1097/MOP.0000000000000817