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Child's Nervous System : ChNS :... Nov 2022Myelomeningocele (MMC) is the representative entity of open neural tube defects resulting from an error during primary neurulation. However, cases of MMC in the region...
PURPOSE
Myelomeningocele (MMC) is the representative entity of open neural tube defects resulting from an error during primary neurulation. However, cases of MMC in the region of the secondary neural tube (below the junction of S1 and S2 vertebrae) are sometimes encountered. We aimed to analyze the clinical features of atypical "low-lying" MMC in comparison to the typical MMC and suggest possible pathoembryogenesis.
METHODS
From 1986 to 2020, 95 MMC patients were treated in our institute. A retrospective review of the radiological and clinical information was performed. We defined "low-lying" MMCs as those with fascia or lamina defects below the S1-2 interspinous ligament.
RESULTS
Thirty-one out of the 95 MMC patients were identified as having low-lying MMC. The percentage of low-lying MMC within the entire MMC group increased dramatically (19% from 1990 to 1999 and 48% from 2000 to 2020). Thirty-nine percent of the low-lying MMCs were associated with hydrocephalus, and 36% showed the Chiari malformation. Clean intermittent catheterization was being performed by 52% of the patients and 46% had a motor weakness. The proportions of hydrocephalus, neurological symptoms, and the number of related procedures in the low-lying MMC were substantially lower than the typical MMC in our cohort and the literature.
CONCLUSIONS
We present cases of atypical MMC occurring in the region of secondary neurulation. These cases provide clues that secondary neurulation may lead to open neural defects. Future experiments with animal models supporting what we have seen in the clinics will greatly enhance the understanding of the developmental process of neurulation and the corresponding anomalies.
Topics: Humans; Meningomyelocele; Neurulation; Hydrocephalus; Arnold-Chiari Malformation; Neural Tube Defects
PubMed: 35821435
DOI: 10.1007/s00381-022-05591-8 -
Zhongguo Xiu Fu Chong Jian Wai Ke Za... Nov 2021To review the research progress on etiology and pathogenesis of spina bifida. (Review)
Review
OBJECTIVE
To review the research progress on etiology and pathogenesis of spina bifida.
METHODS
By consulting relevant domestic and foreign research literature on spina bifida, the classification, epidemic trend, pathogenesis, etiology, prevention and treatment of it were analyzed and summarized.
RESULTS
Spina bifida, a common phenotype of neural tube defects, is classified based on the degree and pattern of malformation associated with neuroectodermal involvement and is due to the disturbance of neural tube closure 28 days before embryonic development. The prevalence of spina bifida varies greatly among different ethnic groups and regions, and its etiology is complex. Currently, some spina bifida patients can be prevented by folic acid supplements, and with the improvement of treatment technology, the short-term and long-term survival rate of children with spina bifida has improved.
CONCLUSION
The research on the pathogenesis of spina bifida will be based on the refined individual information on exposure, genetics, and complex phenotype, and will provide a theoretical basis for improving prevention and treatment strategies through multidisciplinary cooperation.
Topics: Female; Folic Acid; Humans; Neural Tube Defects; Pregnancy; Prevalence; Spinal Dysraphism
PubMed: 34779160
DOI: 10.7507/1002-1892.202106052 -
Revue Medicale de Liege Sep 2020We report a case of a 35-year-old woman with recurrent lumbar pain and left cruralgia in a post-traumatic context, for which the scanner had made possible the fortuitous...
We report a case of a 35-year-old woman with recurrent lumbar pain and left cruralgia in a post-traumatic context, for which the scanner had made possible the fortuitous diagnostic of a congenital anomaly. The diagnosis of diastematomyelia, which is more frequent in utero, is rare in adulthood and results from the implementation of an iconographic assessment. We will present the major malformations that are associated with diastematomyelia and which could evoke the presence of this malformation. The management of the anomaly is still controversial and can lead, if not done properly, to invalidating neurological deteriorations.
Topics: Adult; Female; Humans; Low Back Pain; Neural Tube Defects
PubMed: 32909406
DOI: No ID Found -
Annales de Dermatologie Et de... Sep 2020Dysraphism refers to neural tube closure abnormalities and midline closure abnormalities of the skin, paravertebral muscles, vertebrae and meninges. Cranial dysraphism... (Review)
Review
Dysraphism refers to neural tube closure abnormalities and midline closure abnormalities of the skin, paravertebral muscles, vertebrae and meninges. Cranial dysraphism (CD) and occult spinal dysraphism (OSD) may be discovered via evocative skin signs present at birth or appearing later in childhood or even in adulthood. This review describes the various types of skin signs associated with CD and OSD. All congenital midline skin lesions, particularly on the frontonasal area, the vertex or the occipitocervical and low back regions, should prompt suspicion of underlying dysraphism. The main evocative midline skin abnormalities are: (i) for underlying DCEO: a nodule, swelling, skin openings and hair collar sign or hair tuft; (ii) for underlying DSO, localized hypertrichosis, an atypical or complex lower back dimple, a dermoid fistula, infantile haemangioma, caudal appendage and lipoma. In the event of suspected DCEO or DSO, spinal or medullary MRI constitutes the reference examination.
Topics: Abnormalities, Multiple; Humans; Infant, Newborn; Neural Tube Defects; Skin Abnormalities
PubMed: 32340727
DOI: 10.1016/j.annder.2020.02.011 -
Fetal and Pediatric Pathology Feb 2021Congenital spinal lipomatous malformations (spinal lipomas, lipomyeloceles, and lipomyelomeningoceles) are closed neural tube defects over the lower back.... (Review)
Review
BACKGROUND
Congenital spinal lipomatous malformations (spinal lipomas, lipomyeloceles, and lipomyelomeningoceles) are closed neural tube defects over the lower back. Differentiation from some other closed neural tube defects in this region can be problematic for pathologists.
MATERIALS AND METHODS
This review is based on PubMed searches of the embryology, gross and histopathologic findings, and laboratory reporting requisites for retained medullary spinal cords, coccygeal medullary vestiges and cysts, myelocystoceles, true human vestigial tails, and pseudotails for comparison with congenital spinal lipomatous malformations.
RESULTS
Embryology, imaging, gross and histopathology of these closed neural tube lesions have different but overlapping features compared to congenital spinal lipomatous malformations, requiring context for diagnosis.
CONCLUSION
The lipomyelocele spectrum and to some degree all of the malformations discussed, even though they may not share gross appearance, anatomic site, surgical approach, or prognosis, require clinical and histopathologic correlation for final diagnosis.
Topics: Humans; Lipoma; Meningomyelocele; Neural Tube Defects; Spinal Cord; Spinal Dysraphism
PubMed: 31535937
DOI: 10.1080/15513815.2019.1651799 -
International Journal of Molecular... Jan 2023Neural tube defects (NTDs) are complex congenital malformations resulting from failure of neural tube closure during embryogenesis, which is affected by the interaction... (Review)
Review
Neural tube defects (NTDs) are complex congenital malformations resulting from failure of neural tube closure during embryogenesis, which is affected by the interaction of genetic and environmental factors. It is well known that folate deficiency increases the incidence of NTDs; however, the underlying mechanism remains unclear. Folate deficiency not only causes DNA hypomethylation, but also blocks the synthesis of 2'-deoxythymidine-5'-monophosphate (dTMP) and increases uracil misincorporation, resulting in genomic instabilities such as base mismatch, DNA breakage, and even chromosome aberration. DNA repair pathways are essential for ensuring normal DNA synthesis, genomic stability and integrity during embryonic neural development. Genomic instability or lack of DNA repair has been implicated in risk of development of NTDs. Here, we reviewed the relationship between folate deficiency, DNA repair pathways and NTDs so as to reveal the role and significance of DNA repair system in the pathogenesis of NTDs and better understand the pathogenesis of NTDs.
Topics: Humans; Folic Acid; Neural Tube Defects; Folic Acid Deficiency; DNA Repair; DNA; Genomic Instability
PubMed: 36768542
DOI: 10.3390/ijms24032220 -
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 -
The Lancet. HIV Sep 2023A study from Botswana identified an increased risk of neural tube defects (NTDs) in infants of mothers with HIV who were treated with dolutegravir around the time of...
BACKGROUND
A study from Botswana identified an increased risk of neural tube defects (NTDs) in infants of mothers with HIV who were treated with dolutegravir around the time of conception. We aimed to examine associations of dolutegravir use with NTDs and pregnancy loss using large health-care claims databases from the USA, a country with folic acid fortification of food.
METHODS
In this cohort study, we analysed health-care claims data, recorded in the Merative MarketScan commercial database (MarketScan data) and Centers for Medicare & Medicaid Services Medicaid database (Medicaid data) from Jan 1, 2008, to Dec 31, 2020. We identified pregnancies with enrolment during their entire duration among women aged 15-49 years and we estimated time of conception. For each pregnancy, we determined HIV status and periconceptional exposure to dolutegravir or other antiretroviral agents. We estimated and compared the incidence rate of NTDs, stillbirths, and pregnancy loss (ie, spontaneous or induced abortions) by type of periconceptional antiretroviral exposure. We calculated adjusted risk ratios of the adverse outcomes using Poisson models adjusting for demographic and clinical factors.
FINDINGS
Of 4 489 315 pregnancies in MarketScan data and 14 405 861 pregnancies in Medicaid data that had full enrolment, we identified 69 pregnancies in MarketScan data and 993 pregnancies in Medicaid data that were associated with HIV and periconceptional dolutegravir exposure. For women without HIV, the NTD rate was 4·1 per 10 000 live births (95% CI 3·9-4·3) in MarketScan and 5·7 per 10 000 live births (5·6-5·8) in Medicaid. No NTD cases were found among those with dolutegravir or non- dolutegravir antiretroviral drug exposure in the MarketScan data; only one NTD case was identified among women with dolutegravir, and three among women with non-dolutegravir antiretroviral exposure in Medicaid. After adjusting for covariates, there were no significant differences in risk ratios of NTD between groups with periconceptional dolutegravir or non-dolutegravir antiretroviral exposure and the group without HIV. However, compared with women without HIV, the risk of pregnancy loss was higher among women exposed to antiretroviral therapy: for dolutegravir exposure the adjusted risk ratio was 1·73 (95% CI 1·20-2·49) in MarketScan data and 1·41 (1·30-1·54) in Medicaid data; for non-dolutegravir antiretroviral exposure the adjusted risk ratio was 1·23 (1·10-1·37) in MarketScan data and 1·11 (1·07-1·15) in Medicaid data.
INTERPRETATION
We studied the largest US cohort of women with periconceptional or early-pregnancy dolutegravir exposure. Our results do not show an increased risk of NTDs in exposed infants in the USA. Administrative databases can be used, with rigorous methodology, to study correlates of rare outcomes, such as NTDs, and to monitor for adverse pregnancy outcomes in women who receive antiretrovirals.
FUNDING
US Centers for Disease Control and Prevention.
Topics: Aged; Pregnancy; Infant; Female; United States; Humans; Pregnancy Outcome; Cohort Studies; HIV Infections; Medicare; Neural Tube Defects; Abortion, Spontaneous; Anti-Retroviral Agents
PubMed: 37506721
DOI: 10.1016/S2352-3018(23)00108-X -
Journal of Molecular Medicine (Berlin,... Sep 2022No highly specific and sensitive biomarkers have been identified for early diagnosis of neural tube defects (NTDs). In this study, we used proteomics to identify novel...
No highly specific and sensitive biomarkers have been identified for early diagnosis of neural tube defects (NTDs). In this study, we used proteomics to identify novel proteins specific for NTDs. Our findings revealed three proteins showing differential expression during fetal development. In a rat model of NTDs, we used western blotting to quantify proteins in maternal serum exosomes on gestational days E18, E16, E14, and E12, in serum on E18 and E12, in neural tubes on E18 and E12, and in fetal neural exosomes on E18. The expression of coronin 1A and dynamin 2 was exosome-specific and associated with spina bifida aperta embryogenesis. Furthermore, coronin 1A and dynamin 2 were significantly downregulated in maternal serum exosomes (E12-E18), neural tubes, and fetal neural exosomes. Although downregulation was also observed in serum, the difference was not significant. Differentially expressed proteins were further analyzed in the serum exosomes of pregnant women during gestational weeks 12-40 using enzyme-linked immunosorbent assays. The findings revealed that coronin 1A and dynamin 2 showed potential diagnostic efficacy during gestational weeks 12-40, particularly during early gestation (12-18 weeks). Therefore, these two targets are used as candidate NTD screening and diagnostic biomarkers during early gestation. KEY MESSAGES: We used proteomics to identify novel proteins specific for NTDs. CORO1A and DNM2 showed exosome-specific expression and were associated with SBA. CORO1A and DNM2 were downregulated in maternal serum exosomes and FNEs. CORO1A and DNM2 showed good diagnostic efficacy for NTDs during early gestation. These two targets may have applications as NTD screening and diagnostic biomarkers.
Topics: Animals; Biomarkers; Dynamin II; Female; Fetus; Humans; Microfilament Proteins; Neural Tube Defects; Pregnancy; Rats
PubMed: 35915349
DOI: 10.1007/s00109-022-02236-w