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The American Journal of Clinical... Dec 2023Folate is essential for healthy growth and development. Fortification of foods with folic acid can improve folate status and reduce risk of neural tube defects (NTD)....
BACKGROUND
Folate is essential for healthy growth and development. Fortification of foods with folic acid can improve folate status and reduce risk of neural tube defects (NTD). Following concern around folate status in the United Kingdom, the United Kingdom government announced in 2021 the intention to introduce mandatory folic acid fortification.
OBJECTIVE
This study aimed to describe folate status in the United Kingdom population prior to the implementation of mandatory folic acid fortification of non-whole wheat (non-wholemeal) flour and to assess trends in folate status, including in females of reproductive age (FRA).
METHODS
Data were from the United Kingdom National Diet and Nutrition Survey Rolling Program (2008-2019), a cross-sectional, nationally representative survey of children and adults aged 1.5+ (n = 5792 with folate result). Serum folate concentration was measured by liquid chromatography tandem mass spectrometry (LC-MS/MS) and red blood cell (RBC) folate concentration by microbiological assay. Concentration data were compared against method-specific cut-offs and thresholds, and relationships were explored against demographic and lifestyle characteristics.
RESULTS
RBC and serum folate concentration significantly decreased by ∼3 percentage points per year between 2008 and 2019 in all age/sex groups. Prevalence of deficiency (RBC folate < 305 nmol/L) was highest in children aged 11 to 18 y (17% in 2016-2019). The proportion of FRA below the cut-off for increased risk of NTD (RBC folate < 748 nmol/L) increased from 69% to 89% between 2008 and 2019. Ethnicity, smoking status, and income were significant determinants of RBC and serum folate concentrations.
CONCLUSIONS
These data reveal a decline in population folate status in the United Kingdom between 2008 and 2019 and a high prevalence of folate deficiency. A high proportion of FRA had RBC folate concentrations below the cut-off for increased risk of NTD. These data provide information on folate status in a population not currently exposed to mandatory folic acid fortification and are essential to model and assess its impact.
Topics: Adult; Child; Female; Humans; Folic Acid; Cross-Sectional Studies; Chromatography, Liquid; Tandem Mass Spectrometry; Neural Tube Defects; Diet; Nutrition Surveys; Erythrocytes; Food, Fortified
PubMed: 37839706
DOI: 10.1016/j.ajcnut.2023.10.006 -
Neurology India Mar 2024
Topics: Humans; Arnold-Chiari Malformation
PubMed: 38817188
DOI: 10.4103/neurol-india.Neurol-India-D-24-00173 -
Environmental Health Perspectives Aug 2023Neural tube defects (NTDs) affect pregnancies worldwide annually. Few nongenetic factors, other than folate deficiency, have been identified that may provide... (Review)
Review
BACKGROUND
Neural tube defects (NTDs) affect pregnancies worldwide annually. Few nongenetic factors, other than folate deficiency, have been identified that may provide intervenable solutions to reduce the burden of NTDs. Prenatal exposure to toxic metals [arsenic (As), cadmium (Cd), mercury (Hg), manganese (Mn) and lead (Pb)] may increase the risk of NTDs. Although a growing epidemiologic literature has examined associations, to our knowledge no systematic review has been conducted to date.
OBJECTIVE
Through adaptation of the Navigation Guide systematic review methodology, we aimed to answer the question "does exposure to As, Cd, Hg, Mn, or Pb during gestation increase the risk of NTDs?" and to assess challenges to evaluating this question given the current evidence.
METHODS
We selected available evidence on prenatal As, Cd, Hg, Mn, or Pb exposure and risk of specific NTDs (e.g., spina bifida, anencephaly) or all NTDs via a comprehensive search across MEDLINE, Embase, Web of Science, and TOXLINE databases and applied inclusion/exclusion criteria. We rated the quality and strength of the evidence for each metal. We applied a customized risk of bias protocol and evaluated the sufficiency of evidence of an effect of each metal on NTDs.
RESULTS
We identified 30 studies that met our criteria. Risk of bias for confounding and selection was high in most studies, but low for missing data. We determined that, although the evidence was limited, the literature supported an association between prenatal exposure to Hg or Mn and increased risk of NTDs. For the remaining metals, the evidence was inadequate to establish or rule out an effect.
CONCLUSION
The role of gestational As, Cd, or Pb exposure in the etiology of NTDs remains unclear and warrants further investigation in high-quality studies, with a particular focus on controlling confounding, mitigating selection bias, and improving exposure assessment. https://doi.org/10.1289/EHP11872.
Topics: Female; Pregnancy; Humans; Cadmium; Lead; Prenatal Exposure Delayed Effects; Neural Tube Defects; Mercury; Manganese; Arsenic
PubMed: 37647124
DOI: 10.1289/EHP11872 -
Yakugaku Zasshi : Journal of the... 2021We have been conducting research with the aim of generating evidence for the safety of perinatal drugs. As a result of reviewing the records of inquiries to the Drug... (Review)
Review
We have been conducting research with the aim of generating evidence for the safety of perinatal drugs. As a result of reviewing the records of inquiries to the Drug Information Office of our hospital, we found a large discrepancy between the description of perinatal drugs in package inserts in Japan and the description of the Pregnancy Risk Category according to the U.S. Food and Drug Administration. In the Japan Environment and Children's Study (JECS), we determined the proportion of drug and supplement use among 97464 pregnant women. We clarified that prescriptions of antihypertensive drugs for pregnant women increased during the second half of pregnancy, while prescriptions of anti-epileptic and anti-anxiety drugs decreased after pregnancy using a claims database. A survey of pharmacists and pharmacy students revealed a lack of awareness of effective folic acid intake to reduce the risk of neural tube defects in infants. The percentage of pre-pregnancy folic acid supplementation among pregnant women participating in the Babies and their Parents' Longitudinal Observation in Suzuki Memorial Hospital on Intrauterine Period (BOSHI) study, the JECS, and the Tohoku Medical Megabank (TMM) Birth and Three-Generation (BirThree) cohort study was 6.3-18.0%. As a result of close examination of the records of inquiries to the Drug Information Office of our hospital, and of cases in which our lactation plan sheet was applied, it was found that there were discrepancies between the information on the drug package insert and the information on Medications & Mother's Milk, etc. in Japan. The results obtained have been clinically applied in daily practice and we are continuing our research while taking measures.
Topics: Abnormalities, Drug-Induced; Adult; Awareness; Breast Feeding; Cohort Studies; Databases, Factual; Dietary Supplements; Drug Information Services; Drug Labeling; Female; Folic Acid; Humans; Infant, Newborn; Japan; Neural Tube Defects; Pharmacists; Pregnancy; Prescription Drugs; Safety; Surveys and Questionnaires; Young Adult
PubMed: 33790112
DOI: 10.1248/yakushi.20-00184 -
Journal of Pediatric Rehabilitation... 2022This study aimed to describe health care use by type of health providers and care settings visited by children with spina bifida (SB) and to compare this use between...
PURPOSE
This study aimed to describe health care use by type of health providers and care settings visited by children with spina bifida (SB) and to compare this use between children with and without a shunt.
METHODS
Health care use data were extracted from a larger study on the health and functioning of children with SB aged 3-6 years. The present study focused on the medical information subsection of a parent-reported survey related to SB care, general care, specialty care (e.g., neurosurgery), emergency care, and complications related to SB and shunts.
RESULTS
Parents of 101 children with SB participated. Most of the children were male with myelomeningocele and had a shunt. They visited a health care provider for SB care an average of 7.4 times and a specialist an average of 11.9 times in the previous 12 months. Most visited a multidisciplinary clinic for SB-related care and a private physician's office for general care. Children with a shunt had more SB-related medical visits, more visits to a specialist, and a greater number of different types of specialists than those without it. Frequency of emergency room visits did not differ between the two groups. Health providers informed parents about headaches, vomiting, and fever as signs of complications, and some parents did report shunt-related complications.
CONCLUSION
SB is a complex medical condition requiring that children receive medical care from various medical specialists, especially for children with a shunt. Findings on health care use suggest high levels of monitoring and care coordination that parents navigate to care for their child.
Topics: Child; Humans; Male; Child, Preschool; Female; Spinal Dysraphism; Meningomyelocele; Parents; Surveys and Questionnaires; Delivery of Health Care
PubMed: 36530103
DOI: 10.3233/PRM-220027 -
Journal of Pediatric Rehabilitation... 2020Myelomeningocele (MMC) arises from an early neural developmental anomaly and results in a variety of structural abnormalities and associated functional neurologic... (Review)
Review
Myelomeningocele (MMC) arises from an early neural developmental anomaly and results in a variety of structural abnormalities and associated functional neurologic deficits. As such, neurologic issues are central to virtually all clinical problems. Neurosurgical intervention strives to correct or improve these defects and prevent secondary complications. These interventions include closure of the open myelomeningocele and management (across the life span) of hydrocephalus, the Chiari II malformation (C2M) and tethered spinal cord (TSC). The development of pre-natal closure techniques and reports of improved outcome with in-utero closure (IUMC) have revolutionized the neurosurgical approach to myelomeningocele. Controversies remain surrounding patient selection, maternal risks, technique of IUMC (endoscopic vs. open) and long-term outcomes. However, real gains include reduced rates of hydrocephalus, modestly improved motor capabilities and reduction in C2M morbidity. For many decades, the cornerstone of treatment of hydrocephalus for many decades has been the placement and support of ventricular shunts. Endoscopic third ventriculostomy (ETV) with or without choroid plexus coagulation (ETV/CPC) is an appealing alternate strategy that avoids the morbidity and complications associated with shunts. The exact criteria for ETV-CPC candidacy and best metrics for outcome analysis remain active areas of debate and controversy. Similarly, neurosurgical management C2M, has centered upon the indications and clinical thresholds for performing posterior fossa surgical decompression. Tethered spinal cord management incorporates the diagnosis and surgical management of adhesions formed at the initial closure site, the consequent longitudinal traction related stress on the cord and the resulting neurologic signs and symptoms.
Topics: Adolescent; Adult; Arnold-Chiari Malformation; Child; Child, Preschool; Female; Humans; Hydrocephalus; Infant; Infant, Newborn; Meningomyelocele; Neurosurgery; Neurosurgical Procedures; Pregnancy; Prenatal Care; Spinal Dysraphism; Young Adult
PubMed: 33325414
DOI: 10.3233/PRM-200782 -
Journal of Pediatric Rehabilitation... 2020Self-management and independence behaviors are associated with improved health conditions common to spina bifida such as skin integrity and bowel and bladder management.... (Review)
Review
Self-management and independence behaviors are associated with improved health conditions common to spina bifida such as skin integrity and bowel and bladder management. While most children with spina bifida ultimately achieve basic self-care behaviors, (e.g., dressing appropriately, planning activities with peers, or cooking pre-planned meals), they often lag 2-5 years behind their typically-developing peers in these activities [1]. Valid and reliable condition-specific assessments of self-management and independence are critical to optimizing outcomes for this population. Partnerships among parents, clinicians, and youths with spina bifida are essential to implementing tailored interventions based on these assessments. The guidelines delineated in this article are informed by current self-management research for people with spina bifida and offer recommendations to promote self-management and independence across the lifespan.
Topics: Adolescent; Adult; Child; Child, Preschool; Female; Functional Status; Humans; Infant; Male; Practice Guidelines as Topic; Self-Management; Spinal Dysraphism; Young Adult
PubMed: 33252094
DOI: 10.3233/PRM-200734 -
Archives of Endocrinology and Metabolism Nov 2022Congenital malformations are more frequently found among children born to mothers with diabetes than in the background population. There are several complex mechanisms... (Review)
Review
Congenital malformations are more frequently found among children born to mothers with diabetes than in the background population. There are several complex mechanisms involved in the development of congenital malformations in the offspring of mothers with hyperglycemia, such as the overexpression of glucose transporters (GLUTs) 1 and 2, the increased activity of the hexosamine biosynthetic pathway and the reduced expression of the PAX3 gene with a consequent increase in p53 protein expression. These alterations can lead to increased glucose and free radical concentrations in the embryo, thus promoting the process of apoptosis and causing malformation. The most frequent malformations found in the offspring of mothers with diabetes are heart and neural tube defects, urinary tract and kidney malformations, and cleft lip with or without cleft palate. Strict glycemic control should be obtained before and during pregnancy, aiming to avoid or minimize the risk of congenital malformations in the offspring. Beyond hyperglycemia, several factors may also be associated with increased risks of malformations in the offspring of these women, such as obesity, multiple pregnancies, advanced maternal age, folic acid deficiency, use of angiotensin converting enzyme inhibitors and angiotensin receptor blockers, assisted reproduction techniques, and exposure to different types of environmental pollutants.
Topics: Pregnancy; Child; Humans; Female; Neural Tube Defects; Hyperglycemia; Obesity; Glucose
PubMed: 36191262
DOI: 10.20945/2359-3997000000521 -
Journal of Pediatric Rehabilitation... 2020As the diagnosis of Spina Bifida (SB) is often made prenatally, SB-specific prenatal counseling is needed. It is essential to provide information about medical care and... (Review)
Review
As the diagnosis of Spina Bifida (SB) is often made prenatally, SB-specific prenatal counseling is needed. It is essential to provide information about medical care and lifelong impact of this diagnosis, treatment options available to women carrying fetuses affected, and resources that will assist in the care of individuals with SB. This article outlines the SB Prenatal Counseling Guidelines from the 2018 Spina Bifida Association's Fourth Edition of the Guidelines for the Care of People with Spina Bifida and acknowledges that further research in SB prenatal counseling is warranted.
Topics: Counseling; Female; Humans; Practice Guidelines as Topic; Pregnancy; Prenatal Care; Spinal Dysraphism
PubMed: 33285644
DOI: 10.3233/PRM-200735 -
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