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Genes Oct 2021The maternal environment during the periconceptional period influences foetal growth and development, in part, via epigenetic mechanisms moderated by one-carbon... (Review)
Review
The maternal environment during the periconceptional period influences foetal growth and development, in part, via epigenetic mechanisms moderated by one-carbon metabolic pathways. During embryonic development, one-carbon metabolism is involved in brain development and neural programming. Derangements in one-carbon metabolism increase (i) the short-term risk of embryonic neural tube-related defects and (ii) long-term childhood behaviour, cognition, and autism spectrum disorders. Here we investigate the association between maternal one-carbon metabolism and foetal and neonatal brain growth and development. Database searching resulted in 26 articles eligible for inclusion. Maternal vitamin B, vitamin B, homocysteine, and choline were not associated with foetal and/or neonatal head growth. First-trimester maternal plasma folate within the normal range (>17 nmol/L) associated with increased foetal head size and head growth, and high erythrocyte folate (1538-1813 nmol/L) with increased cerebellar growth, whereas folate deficiency (<7 nmol/L) associated with a reduced foetal brain volume. Preconceptional folic acid supplement use and specific dietary patterns (associated with increased B vitamins and low homocysteine) increased foetal head size. Although early pregnancy maternal folate appears to be the most independent predictor of foetal brain growth, there is insufficient data to confirm the link between maternal folate and offspring risks for neurodevelopmental diseases.
Topics: Brain; Carbon; Embryonic Development; Female; Fetal Development; Fetus; Folic Acid; Humans; Pregnancy; Vitamin B 12
PubMed: 34681028
DOI: 10.3390/genes12101634 -
PloS One 2021Neural tube defects (NTDs) constitute the most frequent group among congenital malformations and are the main cause of neonatal morbimortality. Folic acid (FA) can...
BACKGROUND
Neural tube defects (NTDs) constitute the most frequent group among congenital malformations and are the main cause of neonatal morbimortality. Folic acid (FA) can reduce the risk of pregnancies affected by NTDs.
OBJECTIVE
We aimed to investigate whether mandatory folic acid (FA) fortification of flours is cost-effective as compared to non-mandatory fortification, and to verify whether FA dosage, cost composition, and the quality of economic studies influence the cost-effectiveness of outcomes.
METHODS
We conducted a systematic review. The protocol was registered on PROSPERO (CRD 42018115682). A search was conducted using the electronic databases MEDLINE/PubMed, Web of Science, Embase, Scopus, and EBSCO/CINAHL between January 2019 and October 2020 and updated in February 2021. Eligible studies comprised original economic analyses of mandatory FA fortification of wheat and corn flours (maize flours) compared to strategies of non-mandatory fortification in flours and/or use of FA supplements for NTD prevention. The Drummond verification list was used for quality analysis.
RESULTS
A total of 7,859 studies were identified, of which 13 were selected. Most (77%; n = 10) studies originated from high-income countries, while three (23%) were from upper-middle-income countries. Results of a cost-effectiveness analysis showed that fortification is cost-effective for NTD prevention, except for in one study in New Zealand. The cost-benefit analysis yielded a median ratio of 17.5:1 (0.98:1 to 417.1:1), meaning that for each monetary unit spent in the program, there would be a return of 17.5 monetary units. Even in the most unfavorable case of mandatory fortification, the investment in the program would virtually payoff at a ratio of 1:0.98. All FA dosages were cost-effective and offered positive health gains, except in one study. The outcomes of two studies showed that FA dosages above 300 μg/100 g have a higher CBA ratio. The studies with the inclusion of "loss of consumer choice" in the analysis may alter the fortification cost-efficacy ratio.
CONCLUSION
We expect the findings to be useful for public agencies in different countries in decision-making on the implementation and/or continuity of FA fortification as a public policy in NTD prevention.
Topics: Humans; Neural Tube Defects
PubMed: 34673787
DOI: 10.1371/journal.pone.0258488 -
Journal of Orthopaedic Surgery and... Aug 2021Myelomeningocele (MMC) is the most common and severe form of spina bifida and imposes a significant burden on patients and the healthcare system. Recently, the... (Review)
Review
BACKGROUND
Myelomeningocele (MMC) is the most common and severe form of spina bifida and imposes a significant burden on patients and the healthcare system. Recently, the multidisciplinary management of MMC has become popular. Herein, we aimed to review the orthopedic management, outcomes, and complications of the of patients with MMC eyeing a multidisciplinary approach.
METHODS
We searched PubMed and EMBASE to find relevant studies published before August 2020. All studies that included clinical management of MMC patients and published earlier than 2000 were considered for review on the condition that they reported at least one orthopedic intervention and the rate of complications. We excluded review articles, case reports, case series, letters, commentaries, editorials, and conference abstracts. The primary and secondary goals of our review were to report the outcomes and complication rates of multidisciplinary management for MMC patients.
RESULTS
Twenty-six studies included data for the management of 229,791 patients with MMC and were selected. Sixteen studies reported multidisciplinary management in addition to orthopedic management. From those, 11 (42.31%) included urologic management, 13 (50%) neurosurgical management, 11 (42.31%) neurologic management, and 5 (19.23%) gastrointestinal management. All studies included postnatal operations and related management. No randomized clinical trial was found in our search.
CONCLUSION
Orthopedic approaches play a key role in MMC management by alleviating spinal deformities, particularly scoliosis, and hip, foot, and ankle complications. However, the most appropriate management, whether surgical or non-surgical, may vary for different patients, given disease severity and the age of patients.
Topics: Humans; Meningomyelocele; Orthopedics; Scoliosis
PubMed: 34389028
DOI: 10.1186/s13018-021-02643-8 -
Medicina (Kaunas, Lithuania) Jul 2021: Myelomeningocele is the most severe form of spina bifida, a congenital neural tube defect arising from an incomplete neural tube closure during early development with... (Review)
Review
: Myelomeningocele is the most severe form of spina bifida, a congenital neural tube defect arising from an incomplete neural tube closure during early development with damage worsening with advancing gestational age. The Management of Myelomeningocele Study (MOMS) Trial proved that surgery performed before 26 weeks of gestation significantly improved the prognosis, significantly changing treatment paradigms. This article aims to provide a review of the changes and updates in spina bifida repair over the 10-year period following the MOMS Trial. We performed a systematic review in the PubMed and Cochrane databases as well as a hand-search of high-impact journals using the reference list of all identified articles, searching for randomized controlled trials and observational studies. We identified 27 articles published between 2011 and 2021 that fulfilled the inclusion criteria and review them in the present study. With growing experience and with the improvement of prenatal open and fetoscopic techniques, the outcome of SB-associated conditions could be improved and the risks to both the mother and the fetus reduced. A continuous follow-up of the treated infants and further randomized trials are essential to study the complications and advantages or disadvantages of any given treatment strategy.
Topics: Female; Fetus; Gestational Age; Humans; Infant; Meningomyelocele; Neural Tube Defects; Pregnancy; Spinal Dysraphism
PubMed: 34356988
DOI: 10.3390/medicina57070707 -
World Neurosurgery Aug 2021Diffusion tensor imaging (DTI) application in Chiari malformation type I (CMI) is still poorly defined. This study aimed to systematically review the literature and...
BACKGROUND
Diffusion tensor imaging (DTI) application in Chiari malformation type I (CMI) is still poorly defined. This study aimed to systematically review the literature and propose perspectives toward the clinical application of DTI in CMI.
METHODS
PubMed and Embase were searched for English-language articles published until October 20, 2020. Clinical studies and case series, evaluating fractional anisotropy (FA), mean diffusivity (MD), axial diffusivity (AD), or radial diffusivity values in patients with CMI, were included.
RESULTS
Eight articles were included. Lower FA values were found at the syrinx level, which decreased with syrinx extent and intensity of symptoms, reflecting myelopathy severity. Decreased AD and MD in the middle cerebellar peduncles in symptomatic patients with CMI might explain the presence of cerebellar signs. Increased FA in various supratentorial structures positively correlated with pain severity. Worse performance in neuropsychological tests correlated with decreased FA, increased MD, and radial diffusivity, reflecting axonal degeneration. Postoperative FA decrease in the brainstem compression area reflects successful decompression. A positive correlation was found between the extent of tonsillar ectopia and increased FA, MD, and AD values, which could act as an early indicator of acute brainstem compression.
CONCLUSIONS
DTI might provide a valuable insight into the neurobiological foundation of symptomatic CMI presentation. The severity of white matter injury evident on DTI could serve as a reliable predictor of postoperative outcomes, therefore facilitating selection of appropriate surgical candidates. Postinterventional DTI reassessment might enable differentiation between unsuccessful surgical technique and irreversible myelopathy. The extent of tonsillar ectopia reflects the severity of microstructural brainstem injury.
Topics: Arnold-Chiari Malformation; Diffusion Tensor Imaging; Humans; Neuroimaging
PubMed: 34147690
DOI: 10.1016/j.wneu.2021.06.052 -
BMC Pregnancy and Childbirth Jun 2021Neural tube defects (NTDs) are a group of disorders that arise from the failure of the neural tube close between 21 and 28 days after conception. About 90% of neural... (Meta-Analysis)
Meta-Analysis
BACKGROUND
Neural tube defects (NTDs) are a group of disorders that arise from the failure of the neural tube close between 21 and 28 days after conception. About 90% of neural tube defects and 95% of death due to these defects occurs in low-income countries. Since these NTDs cause considerable morbidity and mortality, this study aimed to determine the prevalence and associated factors of NTDs in Africa.
METHODS
The protocol of this study was registered in the International Prospective Register of Systematic Reviews (PROSPERO number: CRD42020149356). All major databases such as PubMed/MEDLINE, EMBASE, CINAHL, Web of Science, African Journals Online (AJOL), and Google Scholar search engine were systematically searched. A random-effect model was used to estimate the pooled prevalence of NTDs in Africa, and Cochran's Q-statistics and I tests were used to assess heterogeneity between included studies. Publication bias was assessed using Begg 's tests, and the association between determinant factors and NTDs was estimated using a random-effect model.
RESULTS
Of the total 2679 articles, 37 articles fulfilled the inclusion criteria and were included in this systematic review and meta-analysis. The pooled prevalence of NTDs in Africa was 50.71 per 10,000 births (95% CI: 48.03, 53.44). Folic acid supplementation (AOR: 0.40; 95% CI: 0.19-0.85), maternal exposure to pesticide (AOR: 3.29; 95% CI: 1.04-10.39), mothers with a previous history of stillbirth (AOR: 3.35, 95% CI: 1.99-5.65) and maternal exposure to x-ray radiation (AOR 2.34; 95% CI: 1.27-4.31) were found to be determinants of NTDs.
CONCLUSIONS
The pooled prevalence of NTDs in Africa was found to be high. Maternal exposure to pesticides and x-ray radiation were significantly associated with NTDs. Folic acid supplementation before and within the first month of pregnancy was found to be a protective factor for NTDs.
Topics: Africa; Female; Humans; Infant, Newborn; Male; Neural Tube Defects; Pregnancy; Prenatal Care; Prevalence; Risk Factors
PubMed: 34126936
DOI: 10.1186/s12884-021-03848-9 -
World Neurosurgery Aug 2021This study aimed to compare the effectiveness of posterior fossa decompression (PFD), posterior fossa decompression with duraplasty (PFDD), and posterior fossa... (Comparative Study)
Comparative Study Meta-Analysis
Comparative Assessment of Three Posterior Fossa Decompression Techniques and Evaluation of the Evidence Supporting the Efficacy of Syrinx Shunting and Filum Terminale Sectioning in Chiari Malformation Type I. A Systematic Review and Network Meta-Analysis.
BACKGROUND
This study aimed to compare the effectiveness of posterior fossa decompression (PFD), posterior fossa decompression with duraplasty (PFDD), and posterior fossa decompression with resection of tonsils (PFDRT) in Chiari malformation type I (CMI). Furthermore, we aimed to evaluate the evidence supporting the efficacy of filum terminale sectioning (FTS), syringosubarachnoid shunting (SSS), and syringoperitoneal shunting (SPS) in CMI.
METHODS
PubMed, Cochrane, and Embase databases were screened for English-language studies published from inception until August 11, 2020. A total of 3593 studies were identified through the searching process. Fifteen cohort studies were included in the systematic review and network meta-analysis.
RESULTS
No studies concerning FTS, SSS, and SPS were found eligible. Therefore, only PFD, PFDD, and PFDRT were compared. PFDD showed significantly higher incidence of complications (relative risk [RR], 3.79; 95% confidence interval [CI], 2.54-5.64) cerebrospinal fluid leak (RR, 9.74; 95% CI, 2.33-40.78) and neurologic deficit (RR, 8.76; 95% CI, 2.08-36.90) than did PFD. Both PFDD and PFDRT achieved higher syringomyelia improvement (RR, 1.23, 95% CI, 1.09-1.39 and RR, 1.32, 95% CI, 1.15-1.51, respectively) and greater clinical improvement (RR, 1.24, 95% CI, 1.10-1.39 and RR, 1.24, 95% CI, 1.08-1.44, respectively) than did PFD. No differences were found between PFDD and PFDRT.
CONCLUSIONS
PFDD and PFDRT are superior to PFD, especially in patients with syringomyelia-Chiari complex, because of greater syringomyelia reduction and better clinical improvement. However, PFDD and PFDRT can be considered equally efficient. There is no evidence pleading in favor of SFT, SSS, and SPS over any PFD technique.
Topics: Arnold-Chiari Malformation; Cauda Equina; Cerebrospinal Fluid Shunts; Decompression, Surgical; Humans; Neurosurgical Procedures
PubMed: 34098134
DOI: 10.1016/j.wneu.2021.05.124 -
International Journal of Environmental... May 2021Links between heat exposure and congenital anomalies have not been explored in detail despite animal data and other strands of evidence that indicate such links are... (Review)
Review
Links between heat exposure and congenital anomalies have not been explored in detail despite animal data and other strands of evidence that indicate such links are likely. We reviewed articles on heat and congenital anomalies from PubMed and Web of Science, screening 14,880 titles and abstracts in duplicate for articles on environmental heat exposure during pregnancy and congenital anomalies. Thirteen studies were included. Most studies were in North America (8) or the Middle East (3). Methodological diversity was considerable, including in temperature measurement, gestational windows of exposure, and range of defects studied. Associations were detected between heat exposure and congenital cardiac anomalies in three of six studies, with point estimates highest for atrial septal defects. Two studies with null findings used self-reported temperature exposures. Hypospadias, congenital cataracts, renal agenesis/hypoplasia, spina bifida, and craniofacial defects were also linked with heat exposure. Effects generally increased with duration and intensity of heat exposure. However, some neural tube defects, gastroschisis, anopthalmia/microphthalmia and congenital hypothyroidism were less frequent at higher temperatures. While findings are heterogenous, the evidence raises important concerns about heat exposure and birth defects. Some heterogeneity may be explained by biases in reproductive epidemiology. Pooled analyses of heat impacts using registers of congenital anomalies are a high priority.
Topics: Congenital Abnormalities; Female; Heart Defects, Congenital; Hot Temperature; Humans; Middle East; North America; Pregnancy; Temperature
PubMed: 34063033
DOI: 10.3390/ijerph18094910 -
PloS One 2021A systematic review was conducted in high-income country settings to analyse: (i) spina bifida neonatal and IMRs over time, and (ii) clinical and socio-demographic... (Meta-Analysis)
Meta-Analysis
OBJECTIVES
A systematic review was conducted in high-income country settings to analyse: (i) spina bifida neonatal and IMRs over time, and (ii) clinical and socio-demographic factors associated with mortality in the first year after birth in infants affected by spina bifida.
DATA SOURCES
PubMed, Embase, Ovid, Web of Science, CINAHL, Scopus and the Cochrane Library were searched from 1st January, 1990 to 31st August, 2020 to review evidence.
STUDY SELECTION
Population-based studies that provided data for spina bifida infant mortality and case fatality according to clinical and socio-demographical characteristics were included. Studies were excluded if they were conducted solely in tertiary centres. Spina bifida occulta or syndromal spina bifida were excluded where possible.
DATA EXTRACTION AND SYNTHESIS
Independent reviewers extracted data and assessed their quality using MOOSE guideline. Pooled mortality estimates were calculated using random-effects (+/- fixed effects) models meta-analyses. Heterogeneity between studies was assessed using the Cochrane Q test and I2 statistics. Meta-regression was performed to examine the impact of year of birth cohort on spina bifida infant mortality.
RESULTS
Twenty studies met the full inclusion criteria with a total study population of over 30 million liveborn infants and approximately 12,000 spina bifida-affected infants. Significant declines in spina bifida associated infant and neonatal mortality rates (e.g. 4.76% decrease in IMR per 100, 000 live births per year) and case fatality (e.g. 2.70% decrease in infant case fatality per year) were consistently observed over time. Preterm birth (RR 4.45; 2.30-8.60) and low birthweight (RR 4.77; 2.67-8.55) are the strongest risk factors associated with increased spina bifida infant case fatality.
SIGNIFICANCE
Significant declines in spina bifida associated infant/neonatal mortality and case fatality were consistently observed, advances in treatment and mandatory folic acid food fortification both likely play an important role. Particular attention is warranted from clinicians caring for preterm and low birthweight babies affected by spina bifida.
Topics: Female; Humans; Infant; Infant Mortality; Infant, Newborn; Pregnancy; Premature Birth; Spinal Dysraphism
PubMed: 33979363
DOI: 10.1371/journal.pone.0250098 -
BMC Pediatrics Apr 2021Neural tube defects are common congenital anomalies that result from early malformation in the development of the spinal cord and brain. It is related to substantial... (Meta-Analysis)
Meta-Analysis
BACKGROUND
Neural tube defects are common congenital anomalies that result from early malformation in the development of the spinal cord and brain. It is related to substantial mortality, morbidity, disability, and psychological and economic costs. The aim of this review is to determine the pooled birth prevalence of neural tube defects and associated risk factors in Africa.
METHODS
The first outcome of this review was the pooled birth prevalence of the neural tube defects and the second outcome was the pooled measure of association between neural tube defects and associated risk factors in Africa. We systematically searched PubMed, PubMed Central, Joanna Briggs Institute, Google Scopus, Cochrane Library, African Journals Online, Web of Science, Science Direct, Google Scholar, and Medline databases. The heterogeneity of studies was assessed using the Cochrane Q test statistic, I test statistic, and, visually, using Forest and Galbraith's plots. A random-effect model was applied to get the pooled birth prevalence of neural tube defects. Subgroup, sensitivity, meta-regression, time-trend, and meta-cumulative analyses were undertaken. The fixed-effect model was used to analyze the association between neural tube defects and associated risk factors.
RESULTS
Forty-three studies with a total of 6086,384 participants were included in this systematic review and meta-analysis. The pooled birth prevalence of the neural tube defects was 21.42 (95% CI (Confidence Interval): 19.29, 23.56) per 10,000 births. A high pooled birth prevalence of neural tube defects was detected in Algeria 75 (95% CI: 64.98, 85.02), Ethiopia 61.43 (95% CI: 46.70, 76.16), Eritrea 39 (95% CI: 32.88, 45.12), and Nigeria 32.77 (95% CI: 21.94, 43.59) per 10,000 births. The prevalence of neural tube defects has increased over time. Taking folic acid during early pregnancy, consanguineous marriage, male sex, and substance abuse during pregnancy were assessed and none of them was significant.
CONCLUSIONS
The pooled birth prevalence of neural tube defects in Africa was found to be high. The risk factors evaluated were not found significant.
Topics: Ethiopia; Female; Humans; Male; Neural Tube Defects; Nigeria; Pregnancy; Prevalence; Risk Factors
PubMed: 33882899
DOI: 10.1186/s12887-021-02653-9