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Child's Nervous System : ChNS :... Nov 2023Neural tube defects (NTD), such as spina bifida, are surgically treatable and primarily preventable non-communicable diseases. How incidence, mortality and... (Review)
Review
BACKGROUND
Neural tube defects (NTD), such as spina bifida, are surgically treatable and primarily preventable non-communicable diseases. How incidence, mortality and disability-adjusted life year (DALYs) rates of NTD have modulated over time is not well defined. Correspondingly, the aim of this study was to quantitively define the global, regional, and national epidemiological trends in these.
METHODS
A retrospective review of data from the Global Burden of Disease Study 2019 Database was performed. Global, regional, and national outcomes for NTD were collected for incidence, mortality, and DALY rates and their age-standardized metrics analyzed. There were 7 regions at a regional level, and 204 countries and territories at a national level.
RESULTS
Globally, the latest age-standardized rates of incidence, mortality, and DALYs of NTD were 2.1 per 100,000 population, 1.3 per 1000,000, and 117 per 100,000 respectively. All rates demonstrated decreases in the last two decades to now. Regionally, sub-Saharan Africa and North America demonstrated the highest and lowest age-standardized rates of incidence (4.0 vs 0.5 per 100,000), mortality (3.0 vs 0.4 per 100,000), and DALYs (266 vs 33 per 100,000), respectively. Similar to global trends, all regions demonstrated decrease in these rates over the last two decades. Nationally, the highest age-standardized rates were reported in African countries, Central African Republic, with highest incidence rate (7.6 per 100,000), and Burkina Faso with highest mortality rate (5.8 per 100,000) and DALY rate (518 per 100,000). India was the country with the highest number of new NTD cases (22,000 per country) in the most recent year of study. Between 1990 and 2019, 182/204 (89%), 188/204 (92%), and 188/204 (92%) countries and territories demonstrated a decrease in age-standardized incidence, mortality, and DALY rates respectively, with the greatest decreases seen in Saudi Arabia for all statistics.
CONCLUSIONS
Between 1990 and 2019, overall trends in incidence, mortality, and DALY rates of NTD have been favorably downtrending globally. Regionally, these rates in the highest sub-Saharan Africa were 8 times greater compared to the lowest North America. Nationally, although the majority of countries showed decreases in these rates, a small number of countries demonstrated uptrending rates of NTD. Understanding the mechanics behind these trends will allow future public health endeavors for both prevention and neurosurgical treatment to be targeted appropriately.
Topics: Humans; Quality-Adjusted Life Years; Global Health; Africa South of the Sahara; Saudi Arabia; Incidence; Neural Tube Defects
PubMed: 37178370
DOI: 10.1007/s00381-023-05985-2 -
The Science of the Total Environment Feb 2024Exposure to pesticides during pregnancy has been associated with several serious congenital malformations, such as neural tube defects, therefore, is a cause for concern... (Review)
Review
Exposure to pesticides during pregnancy has been associated with several serious congenital malformations, such as neural tube defects, therefore, is a cause for concern in terms of human health. This review aims to gather information related to maternal exposure during pregnancy and the risk of triggering neural tube defects in the offspring. The search strategy for the studies followed the PRISMA guidelines. We conducted a systematic search in the Science Direct, PubMed, Cochrane Library, Embase, Scopus, and Web of Science databases for all epidemiological studies that sought to associate exposure to pesticides during embryonic development with the risk of neural tube defects (NTDs). The keywords used were "pesticide", "herbicide", "congenital" and "neural". Of the 229 articles, 8 eligible ones (7 case-control and 1 cross-sectional) evaluated pesticide exposure in pregnancy. Different methods were used, including analysis of biological samples and questionnaires. The pesticides studied included insecticides, herbicides, fungicides, and nematicides. Insecticides were the most studied, with variations in concentrations between tissues and studies. Distinct levels of pesticides have been detected in maternal serum, placenta, and umbilical cord. Models were statistically adjusted for confounding factors, such as smoking and dietary supplement intakes. Concentrations were measured in different exposure windows (periconception and prenatal), related to NTDs such as anencephaly and spina bifida. Different data collection techniques, types of biological samples, and exposure windows were used, which made comparison difficult. The main pesticides studied included DDT, DDE, HCH, and endosulfan. Maternal serum showed the highest concentrations of pesticides, but detection in placental tissue and umbilical cord confirms embryonic exposure. Confounding variables were adjusted for in the analysis of the articles, but they may still contribute to the risk of NTDs. All the studies analyzed pesticide exposure and the relationship with NTDs. However, a more standardized survey would be ideal for better comparisons.
Topics: Female; Humans; Pregnancy; Pesticides; Insecticides; Cross-Sectional Studies; Placenta; Neural Tube Defects; Herbicides; Risk Factors
PubMed: 38104833
DOI: 10.1016/j.scitotenv.2023.169317 -
Nutrients Mar 2024Folate, also known as vitamin B9, facilitates the transfer of methyl groups among molecules, which is crucial for amino acid metabolism and nucleotide synthesis.... (Review)
Review
Folate, also known as vitamin B9, facilitates the transfer of methyl groups among molecules, which is crucial for amino acid metabolism and nucleotide synthesis. Adequate maternal folate supplementation has been widely acknowledged for its pivotal role in promoting cell proliferation and preventing neural tube defects. However, in the post-fortification era, there has been a rising concern regarding an excess maternal intake of folic acid (FA), the synthetic form of folate. In this review, we focused on recent advancements in understanding the influence of excess maternal FA intake on offspring. For human studies, we summarized findings from clinical trials investigating the effects of periconceptional FA intake on neurodevelopment and molecular-level changes in offspring. For studies using mouse models, we compiled the impact of high maternal FA supplementation on gene expression and behavioral changes in offspring. In summary, excessive maternal folate intake could potentially have adverse effects on offspring. Overall, we highlighted concerns regarding elevated maternal folate status in the population, providing a comprehensive perspective on the potential adverse effects of excessive maternal FA supplementation on offspring.
Topics: Animals; Mice; Humans; Dietary Supplements; Folic Acid; Neural Tube Defects; Family; Drug-Related Side Effects and Adverse Reactions
PubMed: 38474883
DOI: 10.3390/nu16050755 -
Journal of Neurosurgery. Pediatrics Jul 2023The two main objectives of this study were to explore the rate of spinal dysraphism within bladder and cloacal exstrophy and to analyze the relationship between spinal...
OBJECTIVE
The two main objectives of this study were to explore the rate of spinal dysraphism within bladder and cloacal exstrophy and to analyze the relationship between spinal dysraphism surgery, including timing of spinal dysraphism surgery, with urological and neurological outcomes.
METHODS
A prospectively maintained IRB-approved database of pediatric exstrophy patients treated from 1982 to 2021 was retrospectively reviewed for patients with spinal dysraphism. Spinal dysraphism was categorized into the following 7 subtypes: lipoma-based closed defect, myelomeningocele, meningocele, diastematomyelia, myelocystocele, low-lying conus with tethered cord/fatty filum, and sacral bony defect. Other factors assessed included patient demographic characteristics, type of spinal dysraphism procedure, reoperation, complication, presence of other neurological problems (e.g., hydrocephalus, Chiari malformation), neurological status, and urological function.
RESULTS
Analysis revealed that 114/1401 patients had coexisting spinal dysraphism. Of these 114, sufficient records including type of dysraphism were available for 54. Spinal dysraphism was most common within cloacal exstrophy (83.3% [45/54 patients]), followed by cloacal exstrophy variants (9.3% [5/54]), classic bladder exstrophy (3.7% [2/54]), and classic bladder exstrophy variants (3.7% [2/54]). Within spinal dysraphism, lipoma-based closed defects (63.0% [34/54]) and low-lying conus with tethered cord/fatty filum (11.1% [6/54]) were most common. Hydrocephalus and Chiari malformation occurred in 24.1% (13/54) and 11.1% (6/54) of patients. All 13 patients with hydrocephalus underwent shunt placement. Among those who underwent neurosurgical intervention, the complication rate for spinal dysraphism was 14.6% (7/48). Motor function data were available for 41 patients and revealed that motor function declined for 2/41 (4.8%) patients and improved for 6/41 (14.6%) after neurosurgery. There was no statistical difference in lower-extremity motor outcome related to timing of neurosurgery and exstrophy closure.
CONCLUSIONS
The authors have reported the surgical management and outcomes of patients with exstrophy and coexisting spinal dysraphism (n = 54). In 54 patients, spinal dysraphism was most common in the subset of patients with cloacal exstrophy (83.3%). Lipoma-based closed defects (63.0%) and low-lying conus with tethered cord/fatty filum (11.1%) were the most common, and the rates of hydrocephalus and Chiari malformation were 24.1% and 11.1%, respectively. There was no difference in lower-extremity motor outcome related to timing of neurosurgery and exstrophy closure.
Topics: Humans; Child; Bladder Exstrophy; Retrospective Studies; Spinal Dysraphism; Neural Tube Defects; Meningomyelocele; Arnold-Chiari Malformation; Hydrocephalus; Digestive System Abnormalities; Lipoma
PubMed: 37119103
DOI: 10.3171/2023.3.PEDS22447 -
Perioperative complications and secondary retethering after pediatric tethered cord release surgery.Journal of Neurosurgery. Pediatrics Nov 2023Tethered cord syndrome refers to a constellation of symptoms characterized by neurological, musculoskeletal, and urinary symptoms, caused by traction on the spinal cord,...
OBJECTIVE
Tethered cord syndrome refers to a constellation of symptoms characterized by neurological, musculoskeletal, and urinary symptoms, caused by traction on the spinal cord, which can be secondary to various etiologies. Surgical management of simple tethered cord etiologies (e.g., fatty filum) typically consists of a single-level lumbar laminectomy, intradural exploration, and coagulation and sectioning of the filum. More complex etiologies such as lipomyelomeningoceles or scar formation after myelomeningocele repair involve complex dissection and dural reconstruction. The purpose of this study was to evaluate operative complications and long-term outcomes of secondary retethering related to pediatric tethered cord release (TCR) at a tertiary children's hospital.
METHODS
Medical records of children who underwent surgery for TCR from July 2014 to March 2023 were retrospectively reviewed. Data collected included demographics, perioperative characteristics, surgical technique, and follow-up duration. Primary outcomes were 60-day postoperative complications and secondary retethering requiring repeat TCR surgery. Univariate and multivariate analyses were performed to identify risk factors associated with complications and secondary retethering.
RESULTS
A total of 363 TCR surgeries (146 simple, 217 complex) in 340 patients were identified. The mean follow-up was 442.8 ± 662.2 days for simple TCRs and 733.9 ± 750.3 days for complex TCRs. The adjusted 60-day complication-free survival rate was 96.3% (95% CI 91.3%-98.4%) for simple TCRs and 88.7% (95% CI 82.3%-91.4%) for complex TCRs. Lower weight, shorter surgical times, and intensive care unit admission were associated with complications for simple TCRs. Soft-tissue drains increased complications for complex TCRs. The secondary retethering rates were 1.4% for simple TCRs and 11.9% for complex TCRs. The 1-, 3-, and 5-year progression-free survival rates in complex cases were 94.7% (95% CI 89.1%-97.4%), 77.7% (95% CI 67.3%-85.3%), and 62.6% (95% CI 46.5%-75.1%), respectively. Multivariate analysis revealed that prior detethering (OR 8.15, 95% CI 2.33-28.50; p = 0.001) and use of the operative laser (OR 10.43, 95% CI 1.36-80.26; p = 0.024) were independently associated with secondary retethering in complex cases.
CONCLUSIONS
This is the largest series to date examining postoperative complications and long-term secondary retethering in TCR surgery. Simple TCR surgeries demonstrated safety, rare complications, and low secondary retethering rates. Complex TCR surgeries presented higher risks of complications and secondary retethering. Modifiable risk factors such as operative laser use influenced secondary retethering in complex cases.
Topics: Child; Humans; Neurosurgical Procedures; Retrospective Studies; Treatment Outcome; Neural Tube Defects; Postoperative Complications; Receptors, Antigen, T-Cell
PubMed: 37728397
DOI: 10.3171/2023.6.PEDS23259 -
Journal of Cutaneous Pathology Jul 2023Encephaloceles are neural tube defects characterized by herniation of meninges, neural tissue and cerebrospinal fluid, while atretic cephaloceles denote a rudimentary...
BACKGROUND
Encephaloceles are neural tube defects characterized by herniation of meninges, neural tissue and cerebrospinal fluid, while atretic cephaloceles denote a rudimentary connection to the intracranial space with absence of herniated neural tissue and represent an infrequent dermatopathologic diagnosis. Limited reports of these entities confound the challenge in their histopathologic distinction. Accurate classification is important given associated anomalies and neurologic manifestations that impact prognosis.
METHODS
We describe the clinicopathological and immunohistochemical [glial fibrillary acidic protein (GFAP), S100, epithelial membrane antigen (EMA), and somatostatin receptor subtype 2A (SSTR2A)] features in a retrospective series encountered at a single institution between 1994 and 2020.
RESULTS
We identified 13 cases classified as atretic cephalocele (n = 11) and encephalocele (n = 2). Hamartomatous changes and multinucleated cells were unique to atretic cephaloceles while myxoid areas were unique to encephaloceles. At least focal staining for SSTRA was seen in all atretic cephaloceles with the majority (87.5%) staining for EMA; negative staining for GFAP and S100 confirmed absence of neural tissue. Encephaloceles were GFAP and S100 positive, and negative for SSTR2 and EMA. Atretic cephaloceles had a favorable prognosis compared to encephaloceles, with severe morbidity present in both encephalocele cases.
CONCLUSION
Our study raises awareness of atretic cephalocele and encephalocele among dermatopathologists and reveals a mutually exclusive immunophenotype that facilitates their distinction for prognostication and management.
Topics: Humans; Encephalocele; Retrospective Studies; Meninges; Prognosis
PubMed: 36700349
DOI: 10.1111/cup.14399 -
JAMA Aug 2023Neural tube defects are among the most common congenital malformations in the US, with an estimated 3000 pregnancies affected each year. Many of these neural tube...
IMPORTANCE
Neural tube defects are among the most common congenital malformations in the US, with an estimated 3000 pregnancies affected each year. Many of these neural tube defects are caused by low folate levels in the body.
OBJECTIVE
The US Preventive Services Task Force (USPSTF) commissioned a reaffirmation evidence update on the benefits and harms of folic acid supplementation.
POPULATION
Persons who are planning to or could become pregnant.
EVIDENCE ASSESSMENT
The USPSTF concludes that, for persons who are planning to or could become pregnant, there is high certainty that folic acid supplementation has a substantial net benefit to prevent neural tube defects in their offspring.
RECOMMENDATION
The USPSTF recommends that all persons planning to or who could become pregnant take a daily supplement containing 0.4 to 0.8 mg (400 to 800 μg) of folic acid. (A recommendation).
Topics: Female; Humans; Pregnancy; Advisory Committees; Dietary Supplements; Folic Acid; Mass Screening; Neural Tube Defects; Preventive Health Services; Folic Acid Deficiency; Pregnancy Complications; Preconception Care
PubMed: 37526713
DOI: 10.1001/jama.2023.12876 -
World Journal of Surgery Dec 2023Congenital anomalies are a leading cause of morbidity and mortality worldwide. We aimed to review the common surgically correctable congenital anomalies with recent... (Review)
Review
BACKGROUND
Congenital anomalies are a leading cause of morbidity and mortality worldwide. We aimed to review the common surgically correctable congenital anomalies with recent updates on the global disease burden and identify the factors affecting morbidity and mortality.
METHOD
A literature review was done to assess the burden of surgical congenital anomalies with emphasis on those that present within the first 8000 days of life. The various patterns of diseases were analyzed in both low- and middle-income countries (LMIC) and high-income countries (HIC).
RESULTS
Surgical problems such as digestive congenital anomalies, congenital heart disease and neural tube defects are now seen more frequently. The burden of disease weighs more heavily on LMIC. Cleft lip and palate has gained attention and appropriate treatment within many countries, and its care has been strengthened by global surgical partnerships. Antenatal scans and timely diagnosis are important factors affecting morbidity and mortality. The frequency of pregnancy termination following prenatal diagnosis of a congenital anomaly is lower in many LMIC than in HIC.
CONCLUSION
Congenital heart disease and neural tube defects are the most common congenital surgical diseases; however, easily treatable gastrointestinal anomalies are underdiagnosed due to the invisible nature of the condition. Current healthcare systems in most LMICs are still unprepared to tackle the burden of disease caused by congenital anomalies. Increased investment in surgical services is needed.
Topics: Female; Humans; Pregnancy; Cleft Lip; Cleft Palate; Heart Defects, Congenital; Neural Tube Defects; Morbidity; Congenital Abnormalities
PubMed: 37311874
DOI: 10.1007/s00268-023-07087-1 -
Genetics in Medicine : Official Journal... Oct 2023To evaluate whether deep prenatal phenotyping of fetal brain abnormalities (FBAs) increases diagnostic yield of trio-exome sequencing (ES) compared with standard...
PURPOSE
To evaluate whether deep prenatal phenotyping of fetal brain abnormalities (FBAs) increases diagnostic yield of trio-exome sequencing (ES) compared with standard phenotyping.
METHODS
Retrospective exploratory analysis of a multicenter prenatal ES study. Participants were eligible if an FBA was diagnosed and subsequently found to have a normal microarray. Deep phenotyping was defined as phenotype based on targeted ultrasound plus prenatal/postnatal magnetic resonance imaging, autopsy, and/or known phenotypes of other affected family members. Standard phenotyping was based on targeted ultrasound alone. FBAs were categorized by major brain findings on prenatal ultrasound. Cases with positive ES results were compared with those that have negative results by available phenotyping, as well as diagnosed FBAs.
RESULTS
A total of 76 trios with FBAs were identified, of which 25 (33%) cases had positive ES results and 51 (67%) had negative results. Individual modalities of deep phenotyping were not associated with diagnostic ES results. The most common FBAs identified were posterior fossa anomalies and midline defects. Neural tube defects were significantly associated with receipt of a negative ES result (0% vs 22%, P = .01).
CONCLUSION
Deep phenotyping was not associated with increased diagnostic yield of ES for FBA in this small cohort. Neural tube defects were associated with negative ES results.
Topics: Pregnancy; Female; Humans; Prenatal Diagnosis; Retrospective Studies; Exome Sequencing; Fetus; Brain Diseases; Brain; Neural Tube Defects; Ultrasonography, Prenatal
PubMed: 37326029
DOI: 10.1016/j.gim.2023.100915 -
Jornal de Pediatria 2023To map available scientific evidence about the pediatric population with spina bifida submitted to transanal irrigation to manage signs and symptoms of neurogenic bowel. (Review)
Review
OBJECTIVE
To map available scientific evidence about the pediatric population with spina bifida submitted to transanal irrigation to manage signs and symptoms of neurogenic bowel.
SOURCE OF DATA
This research was developed according to recommendations from the Joanna Briggs Institute Reviewers' Manual and the PRISMA Extension for Scoping Reviews. Searches were carried out in the databases: CINAHL, Medline/Pubmed, Scielo, Scopus, Web of Science, Embase, LILACS, Proquest, and the CAPES catalog of theses and dissertations. Quantitative and qualitative studies on the topic were included, as long as they dealt with this population. There was no predetermined time frame.
SUMMARY OF THE FINDINGS
The authors found 1.020 studies, selected 130 for close reading, and included 23 in the review, all of which had been published from 1989 to 2021. The authors mapped the characteristics of the studies, including their definitions of concepts and use of scales, criteria for the indication of transanal irrigation, training to carry out the procedure, devices and solutions used, number and frequency of transanal irrigations, health care actions, time spent, associated complications, complementary exams, adherence rate, follow-up, and outcomes, focusing on the benefits for bowel management.
CONCLUSIONS
Despite the variability of evaluation parameters and term definitions, evidence suggests that transanal irrigation is a safe and effective method to manage fecal incontinence. Studies in the field are likely to grow, using standardized scales and longitudinal follow-ups. The authors suggest further research on transanal irrigation in the pediatric population with spina bifida in the Latin American context.
Topics: Humans; Child; Neurogenic Bowel; Constipation; Therapeutic Irrigation; Fecal Incontinence; Spinal Dysraphism
PubMed: 36852756
DOI: 10.1016/j.jped.2023.02.001