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Neurosurgical Focus Jun 2024This study aimed to investigate the differences in clinical features, diagnostic examination, treatment, and pathological results between adult-onset and pediatric-onset...
OBJECTIVE
This study aimed to investigate the differences in clinical features, diagnostic examination, treatment, and pathological results between adult-onset and pediatric-onset tethered cord syndrome (TCS).
METHODS
The authors searched the PubMed, Embase, and Cochrane Library databases through January 2023 for reports on TCS, extracting information on clinical features, imaging data, treatment modalities, prognosis, and pathological research results. A total of 6135 cases from 246 articles were included in the analysis. This review was conducted in accordance with the 2020 PRISMA guidelines and registered on PROSPERO.
RESULTS
The most common adult clinical manifestations were pain, urinary symptoms, and numbness; in children, they were urinary symptoms, skin lesions, bowel symptoms, and unspecific motor deficits. Surgical treatment was the primary approach for both adults and children, with a higher clinical improvement rate observed in adults. However, adults also had a higher rate of surgical complications than children. TCS pathological studies have not yet identified the differences between adults and children, and the pathogenesis of adult-onset TCS requires further investigation.
CONCLUSIONS
Adult-onset and pediatric-onset TCS exhibit certain differences in clinical characteristics, diagnostic examinations, and treatments. However, significant differences have not been found in current pathological studies between adults and children. Systematic review registration no.: CRD42023479450 (www.crd.york.ac.uk/prospero).
Topics: Humans; Neural Tube Defects; Child; Adult; Age of Onset
PubMed: 38823051
DOI: 10.3171/2024.3.FOCUS23899 -
Journal of Neurological Surgery Reports Apr 2024Diastematomyelia is a rare congenital disorder characterized by the separation of the spinal cord by an osseocartilaginous or fibrous septum. While diastematomyelia has...
Diastematomyelia is a rare congenital disorder characterized by the separation of the spinal cord by an osseocartilaginous or fibrous septum. While diastematomyelia has been reported to be more common in the thoracic and lumbar regions, the true incidence of cervical diastematomyelia is currently unknown. In this study, we conducted the most comprehensive systematic review to date of all other case reports of diastematomyelia to better characterize the incidence of cervical diastematomyelia and provide comprehensive statistics on the clinical characteristics of diastematomyelia generally. Ninety-one articles were included in our study, which comprised 252 males (27.9%) and 651 females (72.0%) (and one patient with unspecified gender). In 507 cases, the vertebral level of the diastematomyelia was described, and we recorded those levels as either cervical ( = 8, 1.6%), thoracic ( = 220, 43.4%), lumbar ( = 277, 54.6%), or sacral ( = 2, 0.4%). In 719 cases, the type of diastematomyelia was specified as either Type I ( = 482, 67.0%) or Type II ( = 237, 33.0%). Our study found that diastematomyelia has been reported in the cervical region in only 1.6% of cases, and we provide comprehensive data that this disorder occurs in female-to-male ratio of approximately 2.6:1 and Type I versus Type II diastematomyelia in an estimated ratio of 2:1.
PubMed: 38798790
DOI: 10.1055/a-2319-3444 -
Neurology Jun 2024This practice guideline provides updated evidence-based conclusions and recommendations regarding the effects of antiseizure medications (ASMs) and folic acid...
This practice guideline provides updated evidence-based conclusions and recommendations regarding the effects of antiseizure medications (ASMs) and folic acid supplementation on the prevalence of major congenital malformations (MCMs), adverse perinatal outcomes, and neurodevelopmental outcomes in children born to people with epilepsy of childbearing potential (PWECP). A multidisciplinary panel conducted a systematic review and developed practice recommendations following the process outlined in the 2017 edition of the American Academy of Neurology Clinical Practice Guideline Process Manual. The systematic review includes studies through August 2022. Recommendations are supported by structured rationales that integrate evidence from the systematic review, related evidence, principles of care, and inferences from evidence. The following are some of the major recommendations. When treating PWECP, clinicians should recommend ASMs and doses that optimize both seizure control and fetal outcomes should pregnancy occur, at the earliest possible opportunity preconceptionally. Clinicians must minimize the occurrence of convulsive seizures in PWECP during pregnancy to minimize potential risks to the birth parent and to the fetus. Once a PWECP is already pregnant, clinicians should exercise caution in attempting to remove or replace an ASM that is effective in controlling generalized tonic-clonic or focal-to-bilateral tonic-clonic seizures. Clinicians must consider using lamotrigine, levetiracetam, or oxcarbazepine in PWECP when appropriate based on the patient's epilepsy syndrome, likelihood of achieving seizure control, and comorbidities, to minimize the risk of MCMs. Clinicians must avoid the use of valproic acid in PWECP to minimize the risk of MCMs or neural tube defects (NTDs), if clinically feasible. Clinicians should avoid the use of valproic acid or topiramate in PWECP to minimize the risk of offspring being born small for gestational age, if clinically feasible. To reduce the risk of poor neurodevelopmental outcomes, including autism spectrum disorder and lower IQ, in children born to PWECP, clinicians must avoid the use of valproic acid in PWECP, if clinically feasible. Clinicians should prescribe at least 0.4 mg of folic acid supplementation daily preconceptionally and during pregnancy to any PWECP treated with an ASM to decrease the risk of NTDs and possibly improve neurodevelopmental outcomes in the offspring.
Topics: Humans; Anticonvulsants; Pregnancy; Female; Epilepsy; Pregnancy Complications; Prenatal Exposure Delayed Effects; Neurodevelopmental Disorders; Abnormalities, Drug-Induced; Teratogenesis; Infant, Newborn
PubMed: 38748979
DOI: 10.1212/WNL.0000000000209279 -
Nutrients Apr 2024(1) Background: Fortifying maize and wheat flours with folic acid has effectively reduced neural tube defect-affected births. However, maize and wheat flours may not be...
(1) Background: Fortifying maize and wheat flours with folic acid has effectively reduced neural tube defect-affected births. However, maize and wheat flours may not be widely consumed in all countries; further reduction in neural tube defect-affected births could benefit from the identification of alternative food vehicles. We aimed to use dietary intake or apparent consumption data to determine alternative food vehicles for large-scale fortification with folic acid in low-income and lower-middle-income countries (LILMICs) and identify current research related to examining the technological feasibility of fortifying alternative foods with folic acid. (2) Methods: We identified 81 LILMICs, defined by the World Bank's (WB) 2018 income classifications. To identify dietary intake or apparent consumption, we reviewed WB's Microdata Library and Global Health Data Exchange for national surveys from 1997-2018. We reviewed survey reports for dietary intake or apparent consumption data and analyzed survey datasets for population coverage of foods. We defined alternative food vehicles as those that may cover/be consumed by ≥30% of the population or households; cereal grains (maize and wheat flours and rice) were included as an alternative food vehicle if a country did not have existing mandatory fortification legislation. To identify current research on fortification with folic acid in foods other than cereal grains, we conducted a systematic review of published literature and unpublished theses, and screened for foods or food products. (3) Results: We extracted or analyzed data from 18 national surveys and countries. The alternative foods most represented in the surveys were oil ( = 16), sugar ( = 16), and salt ( = 14). The coverage of oil ranged from 33.2 to 95.7%, sugar from 32.2 to 98.4%, and salt from 49.8 to 99.9%. We found 34 eligible studies describing research on alternative foods. The most studied alternative foods for fortification with folic acid were dairy products ( = 10), salt ( = 6), and various fruit juices ( = 5). (4) Conclusions: Because of their high coverage, oil, sugar, and salt emerge as potential alternative foods for large-scale fortification with folic acid. However, except for salt, there are limited or no studies examining the technological feasibility of fortifying these foods with folic acid.
Topics: Folic Acid; Food, Fortified; Humans; Neural Tube Defects; Triticum; Edible Grain; Flour; Zea mays; Developing Countries
PubMed: 38732559
DOI: 10.3390/nu16091312 -
Medicine May 2024Folic acid is the synthetic form of vitamin B9, found in supplements and fortified foods, while folate occurs naturally in foods. Folic acid and its derivatives are...
Folic acid is the synthetic form of vitamin B9, found in supplements and fortified foods, while folate occurs naturally in foods. Folic acid and its derivatives are extremely important in the synthesis of nucleic acids (DNA and ribose nucleic acid [RNA]) and different proteins. It acts as a coenzyme for the transfer of 1 carbon in the biosynthesis of purine, pyrimidine, and amino acids. Folic acid is critically important in rapidly proliferating tissues, including fetus and trophoblastic tissue to prevent neural tube defect (NTD). The main objective of this review is to identify the role of folic acid to prevent NTD among pregnancy mothers. Electronic databases including Web of Science, Google Scholar, MEDLINE, Scopus, and Cochrane library used to systematically search without limitation of publication date and status. In pregnancy, the first trimester is a significant time for neural tube closure. Decreased blood folic acid levels inhibit DNA replication, repair, RNA synthesis, histone and DNA methylation, methionine production, and homocysteine remethylation reactions that cause NTDs in pregnancy. Therefore, folic acid supplementation is critically important for childbearing mothers before conception and in the first trimester pregnancy. As a result, women are recommended to take 400 microgram FA/day from preconception until the end of the first trimester to prevent NTD-affected pregnancies. This allows the developing neural tissue to acquire critical mass and provides the preferred rostrocaudal orientation so that these divisions contribute to the elongation of the developing neural tube in embryos.
Topics: Female; Humans; Pregnancy; Dietary Supplements; Folic Acid; Neural Tube Defects; Vitamin B Complex
PubMed: 38728462
DOI: 10.1097/MD.0000000000038154 -
Comprehensive Child and Adolescent... Jun 2024This paper focuses on an innovative approach to preparing children and young people, with Spina Bifida, to move from child-centered to adult-oriented healthcare systems....
This paper focuses on an innovative approach to preparing children and young people, with Spina Bifida, to move from child-centered to adult-oriented healthcare systems. Reflecting on our role in delivering a national nurse led service, we set to identify and critique international transition tools in use for this population. Specifically, we aimed to identify the core capabilities and indicators of progression to successful transition, so that holistic interventions could be planned to match the needs of individuals and their carers. There were two phases to the study, initially focusing on a systematic literature review on transition tools and the specific items that these tools captured, including skills, abilities and behaviors. Phase two culminated in the articulation of a segmented and incremental "road map", aligned with facets deemed essential for a successful healthcare transition. The reporting of the literature review (phase one) followed the PRISMA guidelines and shaped the qualitative element of the study (phase two) through the use of semi-structured interviews and thematic analysis. The search strategy yielded 11 studies, which were then manually searched for other relevant literature, adding a further 14 articles. The review analyzed 7 specific tools for spina bifida and 8 generic tools, which were deemed appropriate for this group of patients. A comprehensive list of core capabilities was then articulated and framed to fit a progression timeline. Specific interventions were formulated to explore ways to co-produce resources that could enhance and support a planned transition to adult-focused services. Our proposed mapping of capabilities and progression could shape other transition programs, where nurses work collaboratively with young people, carers and other members of a team. More work is needed to further explore and embed the framework that, as we did, could be digitized and shared with all stakeholders involved in the transition process.
Topics: Humans; Spinal Dysraphism; Transition to Adult Care; Adolescent; Adult; Child; Qualitative Research
PubMed: 38713540
DOI: 10.1080/24694193.2024.2348830 -
PloS One 2024Congenital anomalies represent a significant contributor to infant mortality, morbidity, and enduring disability. With this in mind, the present investigation endeavour... (Meta-Analysis)
Meta-Analysis
BACKGROUND
Congenital anomalies represent a significant contributor to infant mortality, morbidity, and enduring disability. With this in mind, the present investigation endeavour to ascertain the pooled prevalence of congenital anomalies and associated determinants among neonates in Ethiopia.
METHOD
PubMed, Google Scholar, CINAHAL, Hinari, and Global Health databases were systematically searched. Joanna Briggs Institute (JBI) assessment checklist was used to assess quality of included studies. Data were extracted from database and exported to stataMP-17 for analysis. Pooled prevalence was determined using DerSimonian-Laird random effects model. The degree of heterogeneity and Publication bias were assessed using I2 statistics and Eggers test, respectively. Study protocol was registered under PROSPERO ID CRD42021229140.
RESULT
A total of 18 studies with 519,327 participants were included in the study. Pooled prevalence of congenital anomalies in Ethiopia was 2% (95% CI: 0.02, 0.03%). Among affected newborns neural tube defect (48%) was the most common congenital anomaly in Ethiopia, followed by orofacial cleft (19%). Risk factors such as alcohol consumption (pooled OR: 2.28, 95% CI: 1.54, 3.38), lack of folic acid supplement (pooled OR: 2.83, 95% CI: 1.09-7.36), medication during pregnancy (pooled OR: 2.58, 95% CI: 1.03-6.47), khat (Catha edulis) chewing (pooled OR: 2.44, 95% CI: 1.61-3.71), exposure to pesticides (pooled OR: 4.45, 95% CI: 2.44-8.09) and maternal illness (pooled OR:1.79, 95% CI: 1.03, 3.10) had statistically significant association with congenital anomalies in Ethiopia.
CONCLUSION
In this review, prevalence of congenital anomalies in Ethiopia was high with considerable regional variation. The most common type of congenital anomaly in Ethiopia was neural tube defects, followed by oro-facial cleft. Alcohol consumption, inadequate intake of folic acid, khat chewing, maternal diseases, exposure to pesticides, and use of medication during pregnancy were identified as potential contributors to congenital abnormalities in Ethiopia.
Topics: Humans; Ethiopia; Prevalence; Congenital Abnormalities; Female; Risk Factors; Pregnancy; Infant, Newborn; Neural Tube Defects
PubMed: 38687732
DOI: 10.1371/journal.pone.0302393 -
Neurosurgical Review Apr 2024Segmentation tools continue to advance, evolving from manual contouring to deep learning. Researchers have utilized segmentation to study a myriad of posterior...
BACKGROUND
Segmentation tools continue to advance, evolving from manual contouring to deep learning. Researchers have utilized segmentation to study a myriad of posterior fossa-related conditions, such as Chiari malformation, trigeminal neuralgia, post-operative pediatric cerebellar mutism syndrome, and Crouzon syndrome. Herein, we present a summary of the current literature on segmentation of the posterior fossa. The review highlights the various segmentation techniques, and their respective strengths and weaknesses, employed along with objectives and outcomes of the various studies reported in the literature.
METHODS
A literature search was conducted in PubMed, Embase, Cochrane, and Web of Science up to November 2023 for articles on segmentation techniques of posterior fossa. The two senior authors searched through databases based on the keywords of the article separately and then enrolled joint articles that met the inclusion and exclusion criteria.
RESULTS
The initial search identified 2205 articles. After applying inclusion and exclusion criteria, 77 articles were selected for full-text review after screening of titles/abstracts. 52 articles were ultimately included in the review. Segmentation techniques included manual, semi-automated, and fully automated (atlas-based, convolutional neural networks). The most common pathology investigated was Chiari malformation.
CONCLUSIONS
Various forms of segmentation techniques have been used to assess posterior fossa volumes/pathologies and each has its advantages and disadvantages. We discuss these nuances and summarize the current state of literature in the context of posterior fossa-associated pathologies.
Topics: Humans; Arnold-Chiari Malformation; Cranial Fossa, Posterior; Magnetic Resonance Imaging
PubMed: 38637466
DOI: 10.1007/s10143-024-02366-4 -
Journal of Human Genetics Jul 2024Spondylocostal dysostosis (SCDO) encompasses a group of skeletal disorders characterized by multiple segmentation defects in the vertebrae and ribs. SCDO has a complex...
Spondylocostal dysostosis (SCDO) encompasses a group of skeletal disorders characterized by multiple segmentation defects in the vertebrae and ribs. SCDO has a complex genetic etiology. This study aimed to analyze and identify pathogenic variants in a fetus with SCDO. Copy number variant sequencing and whole exome sequencing were performed on a Chinese fetus with SCDO, followed by bioinformatics analyses, in vitro functional assays and a systematic review on the reported SCDO cases with LFNG pathogenic variants. Ultrasound examinations in utero exhibited that the fetus had vertebral malformation, scoliosis and tethered cord, but rib malformation was not evident. We found a novel homozygous variant (c.1078 C > T, p.R360C) within the last exon of LFNG. The variant was predicted to cause loss of function of LFNG by in silico prediction tools, which was confirmed by an in vitro assay of LFNG enzyme activity. The systematic review listed a total of 20 variants of LFNG in SCDO. The mutational spectrum spans across all exons of LFNG except the last one. This study reported the first Chinese case of LFNG-related SCDO, revealing the prenatal phenotypes and expanding the mutational spectrum of the disorder.
Topics: Humans; Female; Exome Sequencing; Fetus; Pregnancy; Abnormalities, Multiple; Mutation; Meningomyelocele; DNA Copy Number Variations; Asian People; East Asian People; Hernia, Diaphragmatic
PubMed: 38565611
DOI: 10.1038/s10038-024-01248-3 -
Child's Nervous System : ChNS :... Jul 2024Chiari II malformation (CM-II) is a congenital malformation of the posterior fossa associated with myelomeningocele. Of the symptomatic patients, 10-33% require surgical... (Review)
Review
PURPOSE
Chiari II malformation (CM-II) is a congenital malformation of the posterior fossa associated with myelomeningocele. Of the symptomatic patients, 10-33% require surgical treatment. To this date, there is not a consensus about the best surgical technique, and whether to do duroplasty.
METHODS
A literature search of the PubMed database and crossed references was performed, per PRISMA guidelines. Data regarding demographic features, extent of cervicomedullary deformity, clinical presentation, surgical techniques, and clinical outcomes were extracted. Pearson's chi-squared test was applied. The p-values under 0.05 were considered statistically significant.
RESULTS
Twenty studies (N = 330) were analyzed. C3 and C4 levels represented 56.4% of the lowest tonsil displacement. The most reported symptom was dysphagia/swallowing dysfunction (53.8%). Suboccipital craniectomy (SOC) and cervical spine expansion (CSE) with duroplasty were the most reported technique. Dural augmentation was performed in 57.4% of the patients. After surgery, 59.6% observed an improvement in symptoms and quality of life, 12.5% were unchanged, and 27.8% had a worsened clinical status. The mortality rate was 2.5% during the first month after surgery, and 17.4% at the last follow-up evaluation. Patients who underwent CSE presented a better clinical outcome (p = 0.002). The SOC procedure could not be correlated with symptom improvement (p = 0.06).
CONCLUSION
CM-II is associated with high morbidity and mortality. An early onset symptomatic CM-II demands intervention, which provided an improvement of outcome in most patients included in this review. The best surgical technique and the exact effect of the surgical management of CM-II on mortality are not yet clear.
Topics: Humans; Arnold-Chiari Malformation; Neurosurgical Procedures; Treatment Outcome
PubMed: 38536450
DOI: 10.1007/s00381-024-06368-x