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Epidemiology (Cambridge, Mass.) Nov 2023Individual measures of socioeconomic status (SES) have been associated with an increased risk of neural tube defects (NTDs); however, the association between...
BACKGROUND
Individual measures of socioeconomic status (SES) have been associated with an increased risk of neural tube defects (NTDs); however, the association between neighborhood SES and NTD risk is unknown. Using data from the National Birth Defects Prevention Study (NBDPS) from 1997 to 2011, we investigated the association between measures of census tract SES and NTD risk.
METHODS
The study population included 10,028 controls and 1829 NTD cases. We linked maternal addresses to census tract SES measures and used these measures to calculate the neighborhood deprivation index. We used generalized estimating equations to calculate adjusted odds ratios (aORs) and 95% confidence intervals (CIs) estimating the impact of quartiles of census tract deprivation on NTDs adjusting for maternal race-ethnicity, maternal education, and maternal age at delivery.
RESULTS
Quartiles of higher neighborhood deprivation were associated with NTDs when compared with the least deprived quartile (Q2: aOR = 1.2; 95% CI = 1.0, 1.4; Q3: aOR = 1.3, 95% CI = 1.1, 1.5; Q4 (highest): aOR = 1.2; 95% CI = 1.0, 1.4). Results for spina bifida were similar; however, estimates for anencephaly and encephalocele were attenuated. Associations differed by maternal race-ethnicity.
CONCLUSIONS
Our findings suggest that residing in a census tract with more socioeconomic deprivation is associated with an increased risk for NTDs, specifically spina bifida.
Topics: Humans; Educational Status; Ethnicity; Maternal Age; Neural Tube Defects; Odds Ratio; Female
PubMed: 37757869
DOI: 10.1097/EDE.0000000000001655 -
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 -
Saudi Medical Journal Dec 2014Neural tube defects (NTDs) constitute a major health burden (0.5-2/1000 pregnancies worldwide), and remain a preventable cause of still birth, neonatal, and infant... (Review)
Review
Neural tube defects (NTDs) constitute a major health burden (0.5-2/1000 pregnancies worldwide), and remain a preventable cause of still birth, neonatal, and infant death, or significant lifelong handicaps. The malformations result from failure of the neural folds to fuse in the midline, and form the neural tube between the third and the fourth week of embryonic development. This review article discusses their classification, clinical features, and genetics. Most NTDs are sporadic and both genetic, and non-genetic environmental factors are involved in its etiology. Consanguinity was suggested to contribute to the high incidence of NTDs in several countries, including Saudi Arabia. Syndromes, often associated with chromosomal anomalies, account for <10% of all NTDs; but a higher proportion (20%) has been documented in Saudi Arabia. Genetic predisposition constitutes the major underlying risk factor, with a strong implication of genes that regulate folate one-carbon metabolism and planar cell polarity.
Topics: Consanguinity; Humans; Infant, Newborn; Methylenetetrahydrofolate Reductase (NADPH2); Neural Tube Defects
PubMed: 25551113
DOI: No ID Found -
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 -
Clinics in Laboratory Medicine Jun 2016Biochemical prenatal screening was initiated with the use of maternal serum alpha fetoprotein to screen for open neural tube defects. Screening now includes multiple... (Review)
Review
Biochemical prenatal screening was initiated with the use of maternal serum alpha fetoprotein to screen for open neural tube defects. Screening now includes multiple marker and sequential screening protocols involving serum and ultrasound markers to screen for aneuploidy. Recently cell-free DNA screening for aneuploidy has been initiated, but does not screen for neural tube defects. Although ultrasound is highly effective in identifying neural tube defects in high-risk populations, in decentralized health systems maternal serum screening still plays a significant role. Abnormal maternal serum alpha fetoprotein alone or in combination with other markers may indicate adverse pregnancy outcome in the absence of open neural tube defects.
Topics: Biomarkers; Female; Humans; Neural Tube Defects; Pregnancy; Prenatal Diagnosis; Spinal Dysraphism; alpha-Fetoproteins
PubMed: 27235920
DOI: 10.1016/j.cll.2016.01.004 -
Annales D'endocrinologie Apr 2018Neural tube defects (NTD) occur in 0.5 to 2 per 1000 pregnancies with various handicaps for the affected child. It is now well established that folic acid deficiency... (Review)
Review
Neural tube defects (NTD) occur in 0.5 to 2 per 1000 pregnancies with various handicaps for the affected child. It is now well established that folic acid deficiency (absolute or relative) is a predisposing factor to this type of malformation. Several randomized controlled trials showed that high-dose folic acid (4mg) is an essential factor for prevention of neural tube defects recurrence and significantly prevents the first occurrence of neural tube defects with a lower dose (0.4mg). Other etiologies can favor the occurrence of NTD such as MTHFR polymorphism, some antiepileptic therapies, obesity and pregestational mellitus diabetes. Necessity of a preconception folic acid supplementation or at least folate nutritional status evaluation should be known for all of us including patients and public.
Topics: Adult; Dietary Supplements; Female; Folic Acid; Folic Acid Deficiency; Humans; Infant, Newborn; Neural Tube Defects; Preconception Care; Pregnancy; Prenatal Care
PubMed: 29433770
DOI: 10.1016/j.ando.2017.10.001 -
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 -
Food and Nutrition Bulletin Sep 2017There are few effectiveness evaluations of food fortification programs, and little is known about what makes programs successful. (Review)
Review
BACKGROUND
There are few effectiveness evaluations of food fortification programs, and little is known about what makes programs successful.
OBJECTIVE
We examined 3 food fortification programs in Latin America to identify common features that might explain their success and to draw lessons for program design and implementation everywhere: The vitamin A fortification of sugar in Guatemala with impact on vitamin A status of the population, the fortification of a basket of foods with iron and other micronutrients in Costa Rica with impact on iron status and anemia in women and children, and the fortification of wheat flour with folic acid in Chile, which reduced the incidence of neural tube defects.
METHODS
We identified pertinent literature about these preselected programs and asked regional experts for any additional information. We also conducted structured interviews of key informants to provide historical and contextual information.
RESULTS
Institutional research capacity and champions of fortification are features of successful programs in Latin America. We also found that private/public partnerships (industry, government, academia, and civil society) might be key for sustainability. To achieve impact, program managers need to use fortification vehicles that are consumed by the nutritionally vulnerable and to add bioavailable fortificants at adequate content levels in order to fill dietary gaps and reduce micronutrient deficiencies. Adequate monitoring and quality control are essential.
CONCLUSIONS
For future programs, we recommend that the evaluation be specified up-front, including a baseline/end line and data collection along the program impact pathway to inform needed improvements and to strengthen causal inferences.
Topics: Adult; Anemia, Iron-Deficiency; Child Nutritional Physiological Phenomena; Child, Preschool; Female; Food, Fortified; Humans; Infant; Infant, Newborn; Male; Maternal Nutritional Physiological Phenomena; Neural Tube Defects; South America
PubMed: 28490239
DOI: 10.1177/0379572117707890 -
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