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Congenital Anomalies Jan 2021We report population prevalence rates of neural tube defects (NDT) and microcephaly (MIC) as well as levels of incorporated Cs137 by pregnant women in two areas of the...
We report population prevalence rates of neural tube defects (NDT) and microcephaly (MIC) as well as levels of incorporated Cs137 by pregnant women in two areas of the Rivne Province of Ukraine, a northern half (Polissia) polluted by Chornobyl radiation and not-Polissia areas. Monitoring of congenital malformations was conducted with adherence to methods adopted by a European surveillance network (EUROCAT). Incorporated Cs137 (Bq/kg) by pregnant women residing in the Polissia and not-Polissia areas were obtained concurrently with prenatal ultrasound examinations. In Polissia, the incorporated Cs137 levels by pregnant women as well as the prevalence rates of NDTs and MIC are significantly higher than in not-Polissia. In Polissia, the prevalence rates of NDTs and MIC are among the highest in Europe. The debate concerning the teratogenic impact of chronic exposures to low levels of ionizing radiation was re-ignited by our 2010 report. Health agencies uphold the notion that exposure to Chornobyl radiation levels are too low to be teratogenic, which is inconsistent with our observations. Further investigations in Rivne by international teams can, we believe, contribute facts to the ongoing debate. Our monitoring system, experience and data can facilitate concurrent investigations of teratogenic risks from exposures to other sources of ionizing radiation, alcohol, folate, and zinc deficiencies, among other risk factors. Study of genomic impacts can likewise be undertaken.
Topics: Blood Cell Count; Cesium Radioisotopes; Chernobyl Nuclear Accident; Congenital Abnormalities; Female; Geography, Medical; Humans; Microcephaly; Neural Tube Defects; Pregnancy; Prevalence; Public Health Surveillance; Ukraine
PubMed: 33405251
DOI: 10.1111/cga.12388 -
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 -
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 -
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 -
Child's Nervous System : ChNS :... Feb 2021An open neural tube defect (ONTD) features an exposed, unclosed neural plate in the form of an expanded, flat, and frequently hefty neural placode. Traditional...
INTRODUCTION
An open neural tube defect (ONTD) features an exposed, unclosed neural plate in the form of an expanded, flat, and frequently hefty neural placode. Traditional philosophy of ONTD repair aims at preserving function at any cost, which often means stuffing the entire thick and unwieldy but non-functional placode into a tight dural sac, increasing the likelihood of future tethering of the spinal cord. The same philosophy of attempting to save the whole perimetry of the placode also sometimes leads to inadvertent inclusion of parts of the squamous epithelial membrane surrounding the placode into the reconstructed product, only to form inclusion dermoid cyst causing further injury to the neural tissues. Lastly, defective closure of the caudal primary neural tube usually results in abolition of secondary and junctional neurulation, leaving a defective conus and sacral nerve roots, clinically presenting in most cases with neurogenic bladder and bowel dysfunction. Preserving this trapped but locally active sacral micturition center, isolated from suprasegmental inhibitory moderation, leads to a spastic, hyperactive, low compliance, and high-pressure bladder predisposing to upstream kidney damage, without benefits of normal bladder function.
METHOD AND MATERIAL
We report the post-natal surgical treatment of 8 newborn infants with ONTD, in which we resected the non-functional portion of the neural placode identified as such by direct spinal cord/placode and nerve root stimulation, as well as by transcortical evoked motor responses to check for suprasegmental corticospinal connectivity. Any part of the placode without local function or upstream connections was resected, and the small caudal spinal cord stump closed with pia-to-pia microsutures. The patients were followed for pre- and post-operative neuro-urological status and with serial magnetic resonance imaging (MRI) at 3 weeks, 6 months, and 2 years post-repair. Follow-up period ranged from birth to 3 years (mean of 24 months).
RESULTS
Of the 8 patients analyzed, 7 had a terminal and one a segmental ONTD. Pre-operative neurological level ranged from L4 to S2. Applying our new surgical paradigm, we found no neurological worsening post-operatively. All patients had a neurogenic bladder and bowel dysfunction but none had a high-pressure bladder on urodynamics studies. Early and late MRIs all showed a loose and capacious neural placode to dural sac relationship. None had an inclusion dermoid cyst.
CONCLUSION
We propose a new paradigm for the surgical repair of open neural tube defects with intraoperative neuromonitoring and introduce a safe and reliable technique of placode debulking.
Topics: Humans; Infant; Infant, Newborn; Magnetic Resonance Imaging; Neural Tube; Neural Tube Defects; Neurulation; Spinal Cord
PubMed: 32821986
DOI: 10.1007/s00381-020-04866-2 -
British Journal of Neurosurgery Oct 2022Despite the evident clinical, neurological, orthopedic, and urodynamic dysfunctions, neuroanatomic imaging is normal in patients with occult tethered cord syndrome... (Review)
Review
BACKGROUND AND OBJECTIVES
Despite the evident clinical, neurological, orthopedic, and urodynamic dysfunctions, neuroanatomic imaging is normal in patients with occult tethered cord syndrome (OTCS). Therefore, the diagnosis of OTCS can be very complex. In this regard, this systematic review aimed to determine the main clinical features (i.e. neurological, musculoskeletal, and urological abnormalities) and improvement rates of these symptoms in patients with OTCS after the section of the filum terminale (SFT).
MATERIALS AND METHODS
All the papers published in three electronic databases, namely Google Scholar, PubMed, and Web of Science, were searched for the purposes of this study. The searching process started on 15 October and lasted until 9 November 2020. Eventually, 10 reports were found about the clinical outcomes of SFT for the management of the OTCS.
RESULTS
The included studies were carried out on a total of 234 patients with OTCS, all of whom had undergone SFT. Evaluation of urologic symptoms revealed that 40-100% of patients with OTCS suffered from urinary instability. Moreover, its improvement rate after SFT was estimated at 59-100%. Evaluation of neurological symptoms indicated that 25-69% of patients with OTCS suffered from back/leg pain, And its improvement rate, the symptoms of back/leg pain of all patients were resolved or improved after SFT. Lower extremity weakness was found in 9-40% of patients with OTCS which was resolved or improved after SFT in about 25-100% of patients. Nevertheless, surgical indications for occult tight filum terminale syndrome remain controversial.
CONCLUSION
Although it seems that the SFT in OTCS patients is promising in treating neurologic, orthopedic and urological symptoms, usage of surgical untethering for patients with OTCS is a controversial issue. Clinical evaluation and urodynamic testing can be used to identify patients with OTCS. However, a multidisciplinary diagnostic work-up is strongly recommended for every child with OTCS.
Topics: Child; Humans; Neural Tube Defects; Cauda Equina; Back Pain
PubMed: 34709093
DOI: 10.1080/02688697.2021.1995589 -
Revista Medica Del Instituto Mexicano... Feb 2022Neural tube defects are a heterogeneous group of alterations of the central nervous system with multifactorial origin, mainly caused by a failure in the mechanisms of...
BACKGROUND
Neural tube defects are a heterogeneous group of alterations of the central nervous system with multifactorial origin, mainly caused by a failure in the mechanisms of closure of the neural tube which involves skin, paravertebral muscles, connective tissue, bone and spinal cord.
CLINICAL CASE
36-year-old woman with a pregnancy of 25.3 weeks, corroborated by second trimester ultrasound. She had a previous pregnancy with anencephaly and a poor prenatal care in the actual pregnancy. An obstetric ultrasound was performed with the diagnosis of craniorachischisis, which is why the delivery was performed by vaginal birth with labor induction with prostaglandins.
CONCLUSIONS
The craniorachischisis is a rare defect of the neural tube that must be diagnosed early because it is a pathology incompatible with life.
Topics: Adult; Anencephaly; Central Nervous System; Female; Humans; Neural Tube Defects; Pregnancy; Ultrasonography, Prenatal
PubMed: 35274915
DOI: No ID Found -
The Lancet. Global Health Oct 2022
Topics: Folic Acid; Food, Fortified; Humans; Neural Tube Defects
PubMed: 36113522
DOI: 10.1016/S2214-109X(22)00378-3 -
The Lancet. Global Health Oct 2022
Topics: Folic Acid; Food, Fortified; Humans; Neural Tube Defects
PubMed: 36113525
DOI: 10.1016/S2214-109X(22)00383-7