Defeito congênito caracterizado pela falha no fechamento completo do tubo neural; isso resulta na presença de aberturas no cérebro ou na medula espinhal. Exemplos de defeitos do tubo neural incluem encefalocele e espinha bífida.
Introdução
O que você precisa saber de cara
Defeito congênito caracterizado pela falha no fechamento completo do tubo neural; isso resulta na presença de aberturas no cérebro ou na medula espinhal. Exemplos de defeitos do tubo neural incluem encefalocele e espinha bífida.
Tem tratamento?
Escala de raridade
<1/50kMuito rara
1/20kRara
1/10kPouco freq.
1/5kIncomum
1/2k
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Sinais e sintomas
O que aparece no corpo e com que frequência cada sintoma acontece
Partes do corpo afetadas
+ 78 sintomas em outras categorias
Características mais comuns
Os sintomas variam de pessoa para pessoa. Abaixo estão as 190 características clínicas mais associadas, ordenadas por frequência.
Linha do tempo da pesquisa
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Genética e causas
O que está alterado no DNA e como passa nas famílias
Genes associados
7 genes identificados com associação a esta condição.
Functions as a receptor for membrane-bound ligands Jagged1, Jagged2 and Delta1 to regulate cell-fate determination (PubMed:15350543, PubMed:14714274). Upon ligand activation through the released notch intracellular domain (NICD), it forms a transcriptional activator complex with RBPJ/RBPSUH and activates genes of the enhancer of split locus. Affects the implementation of differentiation, proliferation and apoptotic programs (By similarity)
Cell membraneNucleus
Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, 1
A cerebrovascular disease characterized by multiple subcortical infarcts, pseudobulbar palsy, dementia, and the presence of granular deposits in small cerebral arteries producing ischemic stroke.
Cell membrane
Neural tube defects
Congenital malformations of the central nervous system and adjacent structures related to defective neural tube closure during the first trimester of pregnancy. Failure of neural tube closure can occur at any level of the embryonic axis. Common NTD forms include anencephaly, myelomeningocele and spina bifida, which result from the failure of fusion in the cranial and spinal region of the neural tube. NTDs have a multifactorial etiology encompassing both genetic and environmental components.
Antagonizes canonical Wnt signaling by inhibiting LRP5/6 interaction with Wnt and by forming a ternary complex with the transmembrane protein KREMEN that promotes internalization of LRP5/6 (PubMed:22000856). DKKs play an important role in vertebrate development, where they locally inhibit Wnt regulated processes such as antero-posterior axial patterning, limb development, somitogenesis and eye formation. In the adult, Dkks are implicated in bone formation and bone disease, cancer and Alzheimer d
Secreted
Involved in the transcriptional regulation of genes required for mesoderm formation and differentiation. Binds to a palindromic T site 5'-TTCACACCTAGGTGTGAA-3' DNA sequence and activates gene transcription when bound to such a site
Nucleus
Neural tube defects
Congenital malformations of the central nervous system and adjacent structures related to defective neural tube closure during the first trimester of pregnancy. Failure of neural tube closure can occur at any level of the embryonic axis. Common NTD forms include anencephaly, myelomeningocele and spina bifida, which result from the failure of fusion in the cranial and spinal region of the neural tube. NTDs have a multifactorial etiology encompassing both genetic and environmental components.
Probable planar cell polarity effector involved in cilium biogenesis. May regulate protein and membrane transport to the cilium. Proposed to function as core component of the CPLANE (ciliogenesis and planar polarity effectors) complex involved in the recruitment of peripheral IFT-A proteins to basal bodies. May regulate the morphogenesis of hair follicles which depends on functional primary cilia. Binds phosphatidylinositol 3-phosphate with highest affinity, followed by phosphatidylinositol 4-ph
CytoplasmCytoplasm, cytoskeletonCytoplasm, cytoskeleton, cilium basal body
Transcription factor involved in skull and limb development. Plays an essential role in craniofacial development, skin and hair follicle development
Nucleus
Parietal foramina 2
Autosomal dominant disease characterized by oval defects of the parietal bones caused by deficient ossification around the parietal notch, which is normally obliterated during the fifth fetal month. PFM2 is also a clinical feature of Potocki-Shaffer syndrome.
Acts as a transcriptional regulator in bone development. Represses the ALPL promoter activity and antagonizes the stimulatory effect of DLX5 on ALPL expression during osteoblast differentiation. Probable morphogenetic role. May play a role in limb-pattern formation. In osteoblasts, suppresses transcription driven by the osteocalcin FGF response element (OCFRE). Binds to the homeodomain-response element of the ALPL promoter
Nucleus
Parietal foramina 1
Autosomal dominant disease characterized by oval defects of the parietal bones caused by deficient ossification around the parietal notch, which is normally obliterated during the fifth fetal month.
Medicamentos e terapias
Mecanismo: Estrogen receptor alpha agonist
Mecanismo: Progesterone receptor agonist
Variantes genéticas (ClinVar)
647 variantes patogênicas registradas no ClinVar.
Classificação de variantes (ClinVar)
Distribuição de 211 variantes classificadas pelo ClinVar.
Vias biológicas (Reactome)
37 vias biológicas associadas aos genes desta condição.
Diagnóstico
Os sinais que médicos procuram e os exames que confirmam
Tratamento e manejo
Remédios, cuidados de apoio e o que precisa acompanhar
Onde tratar no SUS
Hospitais de referência no Brasil e o protocolo oficial do SUS (PCDT)
🇧🇷 Atendimento SUS — Defeito do tubo neural
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Outros ensaios clínicos
230 ensaios clínicos encontrados, 5 ativos.
Publicações mais relevantes
Mostrando amostra de 200 publicações de um total de 873
Case Report: Surgical management of a meningomyelocele in a cat.
A 2. 5-year-old domestic shorthair cat was presented for evaluation of chronic progressive paraparesis and urinary incontinence characterized by leaking small amounts of urine and incomplete bladder emptying. General physical examination revealed a subcutaneous mass over the L4/L5 spinous process that was painful on palpation. Neurologic examination revealed non-ambulatory paraparesis with intact spinal reflexes, intact deep pain perception, and marked pelvic limb muscle atrophy. Magnetic resonance imaging showed a well-circumscribed tract extending from the epidermis through a split L5 spinous process to the level of the dorsal meninges with associated dorsal deviation of the spinal cord. These findings were consistent with spina bifida at L5 and an associated meningomyelocele. A dorsal laminectomy was performed for surgical decompression and the diagnosis of meningomyelocele was confirmed via histopathology. Postoperatively, the cat remained non-ambulatory and incontinent but had improved comfort. To the author's knowledge, this is the first report of surgical management of a meningomyelocele in a non-ambulatory cat.
Effect of Maternal Hyperglycemia on Cortical Neuronal Migration: Hypofunction of Reelin Signaling.
Maternal diabetes increases the risk of neurodevelopmental alterations in the offspring, yet the molecular links to early corticogenesis remain unclear. During corticogenesis, radial migration is a coordinated process regulated by Reelin signaling and its disruption has been associated with abnormal cortical patterning. We reanalyze dorsal telencephalon transcriptomes from embryonic day 12 (E12) non-neural tube-defect rat embryos to identify canonical pathways perturbed by maternal hyperglycemia. Gene expression profiles from the dorsal prosencephalon at E12 from control and streptozotocin-treated dams (50 mg/kg at E5.5) were interrogated with Ingenuity Pathway Analysis (IPA). We then assessed Reelin pathway components using quantitative reverse transcription polymerase chain reaction (RT-qPCR), immunohistochemistry, and immunoblotting at E12 and E16, and examined postnatal cytoarchitecture/morphology in the primary motor cortex (M1) at postnatal day zero (P0) and P21 using hematoxylin-eosin and Golgi-Cox staining. All analyses excluded embryos with neural tube defects (NTD) to avoid cofounding by gross malformations. IPA revealed Reelin signaling in neurons as the only canonical pathway with a non-zero activation z-score, predicting inhibition in E12 embryos from diabetic rats. Concordantly, protein levels of Reelin (RELN), apolipoprotein E receptor 2/low-density lipoprotein receptor-related protein 8 (ApoER2/LRP8), very low-density lipoprotein receptor (VLDLR), and Disabled Homolog 1 (DAB1) were reduced at E12/E16 (all p < 0.05). N-cadherin (N-CAD) showed disrupted radial localization along the ventricular-pial axis despite unchanged total abundance, consistent with impaired neuron-radial glia adhesion/polarity. Postnatally, the M1 showed increased layer I cellularity, ectopic pyramidal neurons, and aberrant laminar organization. Maternal hyperglycemia is associated with attenuation of the Reelin signaling pathway and N-CAD mislocalization, providing a mechanistic framework for defective neuronal migration and abnormal lamination that persist into early postnatal life. Focusing on NTD-negative embryos isolates the pathway-specific effects of maternal hyperglycemia and nominates Reelin-pathway hypofunction as a candidate driver of altered fetal cortical patterning.
Identifying Immune Cells as Mediators in the Impact of Gut Microbiota on Congenital Malformations of the Nervous System.
Congenital malformations of the nervous system, such as neural tube defects, are significant contributors to infant morbidity and mortality. This study aimed to assess the causal influence of gut microbiota on nervous system malformations and to identify immune cells as potential mediators in this relationship, utilizing a two-step Mendelian randomization (TSMR) approach. Using genome-wide association studies data on gut microbiota, immune cells, and congenital malformations of the nervous system, we applied TSMR to evaluate the total, direct, and mediating effects. Gut microbiota indicators served as exposures, congenital malformations of the nervous system as outcomes, and immune cell markers as mediators. Statistical analyses included MR Egger, inverse variance weighted, and so forth. Our analysis identified 19 gut microbiota indicators causally associated with congenital malformations of the nervous system. Notably, Eubacteriaceae and Eubacterium genera exhibited protective effects, while Escherichia and Bacteroides genera showed positive correlations with malformation risk. Nine immune cell indicators significantly mediated these effects. For example, CD20+ B cells were negatively associated with malformation risk, suggesting a protective immune response, whereas CD25+ B cells were positively correlated, indicating increased malformation risk. This study demonstrated a significant link between gut microbiota composition and congenital nervous system malformations, mediated by specific immune cells. These findings highlighted the potential for gut microbiota modulation and immune-targeted therapies as preventive or therapeutic strategies in reducing malformation risks. Future investigations should aim to replicate these results across diverse populations and further elucidate the underlying biological mechanisms of gut-immune-neural interactions. The authors have nothing to report.
Effectiveness of Multivitamins vs Folic Acid on Prevention of Neural Tube Defects in Mouse Genetic Models and Human Organoids.
Maternal consumption of folic acid (FA)-containing multivitamins/minerals (MVM) are recommended to reduce the risk for neural tube defects (NTDs). However, comparison between MVM supplementation and FA alone relative to NTD risk and possible mechanisms remain unclear. The studies demonstrate MVM can decrease NTD incidence in mouse genetic models with FA-resistant or FA-detrimental responses. To evaluate cellular and metabolic impacts, human iPSC-derived neuroectoderm organoids are generated with an elliptical shape resembling the human neural tube and cranial to upper spinal identity. Upon pharmacological or genetic disruption, both MVM or FA alone can normalize abnormal apical F-actin, lumen size, and premature neuronal differentiation. However, FA alone enhances DNA synthesis and shortens the cell division rate, while MVM maintains these parameters at control levels. High-performance liquid chromatography (HPLC) analysis of mouse embryos and human organoids indicates FA causes more variation of the nucleotide pool, whereas MVM maintains homeostasis. Thymine is reduced in FA alone and increased in MVM and thymine/thymidine supplementation can ameliorate FA-induced hyperactivation of cell division. The in vivo cellular and phenotypic data in human organoids and mice show the effectiveness of MVM supplementation, that in some cases surpasses FA alone, in maintaining cellular homeostasis and preventing NTD.
Successful Management of Community-Acquired Achromobacter xylosoxidans Meningitis in an Infant with Complex Neural Tube Defect.
Publicações recentes
Characteristics of repeated untethering pattern in patients with myelomeningocele from infancy to adolescence.
Hybrid approach to closure in fetoscopic myelomeningocele repair.
Open fetal myeloschisis closure: pearls for uterine exposure and closure.
Association of dynamic blood pressure trajectory during pregnancy with adverse birth outcomes: a large prospective cohort study in China.
A congenital case of nasal lipomeningocele with cerebrospinal fluid rhinorrhea.
📚 EuropePMC433 artigos no totalmostrando 193
Prenatal Diagnosis of a Fetal Spinal Malignant Small Round Cell Tumor: Ultrasound, Fetal MRI, and Immunohistochemical Findings.
Journal of clinical ultrasound : JCUAbnormal enteric nervous system organization and gastrointestinal motility in mice with valproic acid-induced neural tube defects.
bioRxiv : the preprint server for biologyDe novo mutations and environmental modifiers: lessons from neural tube defects.
Trends in genetics : TIGChiari II brain malformation is secondary to open spina bifida.
Disease models & mechanismsFrontoethmoidal encephalocele in a Sudanese infant: a rare case report and literature review.
International journal of surgery case reportsA congenital case of meningomyelocele in a newborn.
The Pan African medical journalCase Report: Surgical management of a meningomyelocele in a cat.
Frontiers in veterinary scienceAdvances in the prevention and prenatal treatment of spina bifida.
Discoveries (Craiova, Romania)Integrating Mathematics into Prenatal Diagnosis-Different Phenotypes of Complex Ventral Wall Malformations Determined by Hierarchical Clustering.
Journal of clinical medicineIn vivo therapy for prenatal repair of the ovine fetal myelomeningocele model using human umbilical cord-derived mesenchymal stem cells: proof of principle.
Journal of perinatal medicineFolic acid supplementation and malaria susceptibility and severity among people taking antifolate antimalarial drugs in endemic areas.
The Cochrane database of systematic reviewsEx-utero intrapartum treatment of a breech fetus: a case report and review of the literature.
Journal of perinatal medicineMulti-tissue DNA methylation analysis to identify an appropriate surrogate tissue for a unique neurological tissue specific to spina bifida.
Clinical epigeneticsSuccessful Management of Community-Acquired Achromobacter xylosoxidans Meningitis in an Infant with Complex Neural Tube Defect.
Indian journal of pediatricsPrenatal Versus Postnatal Surgical Management for Myelomeningocele: A Systematic Review and Comparative Meta-Analysis.
NeurosurgeryEffect of Maternal Hyperglycemia on Cortical Neuronal Migration: Hypofunction of Reelin Signaling.
Journal of integrative neuroscienceAssociation between fetal brain diffusion-weighted imaging and postnatal neurodevelopmental outcome after prenatal myelomeningocele repair.
Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and GynecologyMaternal Subcutaneous Seroma following Open Maternal Fetal Surgery for Closure of Fetal Open Neural Tube Defects.
Fetal diagnosis and therapyThe effect of cypermethrin on neural tube development in the early stage of chick embryos.
Comparative biochemistry and physiology. Toxicology & pharmacology : CBPReproducibility of hindbrain herniation severity grading on MRI scan in fetuses undergoing prenatal open neural tube defect repair.
Pediatric radiologyOccipital encephalocele: prognostic factors of psychomotor delay and visual agnosia.
Child's nervous system : ChNS : official journal of the International Society for Pediatric NeurosurgeryIdentifying Immune Cells as Mediators in the Impact of Gut Microbiota on Congenital Malformations of the Nervous System.
Brain and behaviorFolate Supplementation Awareness Among Women of Reproductive Age in Poland: Focus on Active Forms and Updated National Recommendations.
NutrientsTrends and disparities in anencephaly-related early childhood mortality in the United States between 1999 and 2020: A nationwide CDC WONDER analysis.
MedicineIncidental Prenatal Discovery of Anencephaly via Portable Ultrasounds in a Remote Medical Care Setting.
CureusTerminal myelocystocele and the chiari connection: a case-based review with a novel pathophysiological hypothesis.
Child's nervous system : ChNS : official journal of the International Society for Pediatric NeurosurgeryUncovering the Genetic Landscape of Spinal Dysraphism: A Retrospective Analysis of 150 Fetal Cases.
Prenatal diagnosisInfluence of gestational history on neural tube defects and Eisenmenger syndrome: associations with intellectual disability and visual impairment in children and adults - a systematic review.
Frontiers in pediatricsFolate Interaction With Genetic Risk for Neural Tube Defects Among Infants in Bangladesh.
Birth defects researchEffectiveness of Multivitamins vs Folic Acid on Prevention of Neural Tube Defects in Mouse Genetic Models and Human Organoids.
Advanced science (Weinheim, Baden-Wurttemberg, Germany)Tissue-Specific Expression of Glutathione-S-Transferase Isoforms in Myelomeningocele: An Immunohistochemical Study.
Child's nervous system : ChNS : official journal of the International Society for Pediatric NeurosurgerySuccessful Management of a Rare Case of Double Myelomeningocele in an Infant: A Case Report from Pakistan and Brief Review of Pathophysiology.
Asian journal of neurosurgeryLong-term cognitive outcomes of Chiari II malformation and corpus callosum abnormalities in myelomeningocele.
Child's nervous system : ChNS : official journal of the International Society for Pediatric NeurosurgeryMyelomeningocele closure: A review and decision-making guidance.
JPRAS openLong-term outcomes of children born with neural-tube defects in Botswana.
BMC pediatricsCranial magnetic resonance imaging findings in 167 patients with spina bifida aperta: a retrospective study.
Child's nervous system : ChNS : official journal of the International Society for Pediatric NeurosurgeryFGFR1 Tyrosine Kinase Domain Variant p.Val561Met in Caudal Dysraphism: A Case Report.
Birth defects researchPrenatal evolution of hindbrain herniation following fetal open neural tube defect repair.
Pediatric radiologyManagement of Prenatally Diagnosed Malformations of the Central Nervous System: Factors Influencing Decision-making and the Time of Termination of Pregnancy.
Geburtshilfe und FrauenheilkundeZFHX3-associated neural tube defect.
BMJ case reportsFetal Myelomeningocele Closure in the Setting of Maternal Body Mass Index 35 to 40.
NeurosurgeryDelayed Diagnosis of Lumbosacral Lipomyelomeningocele With Tethered Cord: A Case Report.
CureusWhen neuroglial tissue wanders: a unique case report of subpleural heterotopia in a triploid foetus and review of the literature.
Frontiers in medicineCharacterizing congenital encephaloceles: epidemiological insights and clinical outcomes in a 12-year single-center study.
Child's nervous system : ChNS : official journal of the International Society for Pediatric NeurosurgeryNational strategies for screening neural tube defects in Saudi Arabia: activating prevention and early intervention.
Frontiers in public healthEffects of in utero Open Spina Bifida Repair Using a Laparotomy-Assisted Fetoscopic Approach on the Fetal Cardiovascular System.
Fetal diagnosis and therapySequencing Analysis Demonstrates That a Complex Genetic Architecture Contributes to Risk for Spina Bifida.
Birth defects researchMicrosurgical repair of lumbar Segmental Myelocystocele and spinal cord Untethering: 2-Dimensional operative video.
Journal of clinical neuroscience : official journal of the Neurosurgical Society of AustralasiaNeural tube defect among newborns in public hospitals of Tigray region, northern Ethiopia: A cross-sectional study.
PloS oneEmbryotoxic Effects of Sunset Yellow in Congenital Neural Tube Defect Formation in Early-Stage Chick Embryos: A Histopathological Study.
Turkish neurosurgeryFetoscopic two-layer closure for open neural tube defects: prospective study of obstetric, surgical and perinatal outcomes in the first 50 cases.
Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and GynecologyRethinking folic acid fortification: A call for nuanced strategies and broader investigations.
Journal of the neurological sciencesBarriers to Timely Referral of Children Born with Myelomeningocele in Zambia.
Journal of clinical medicineA lesson in embracing uncertainty in early safety signals from the Tsepamo study.
AIDS (London, England)Effect of etofenamate on midline closure defect in early chicken embryos: an experimental study.
Scientific reportsTrends and Prevalence of Modifiable Risk Factors for Birth Defects Among U.S. Women of Reproductive Age: National Health and Nutrition Examination Survey 2007 to March 2020.
American journal of preventive medicineFrom Diagnosis to Discharge: Case of a Giant Occipital Encephalocele.
Neonatal network : NNIncidence and clinical management of vertebral anomalies in myelomeningocele: a retrospective analysis of 422 cases.
Journal of neurosurgery. PediatricsFrom exencephaly to anencephaly: a catastrophic continuum of neural tube defects from embryogenesis to ultrasonographic diagnosis.
Journal of perinatal medicineQuality of life in children with myelomeningocele undergoing intrauterine repair and postnatal surgery.
The journal of spinal cord medicinePrenatal imaging diagnosis of iniencephaly apertus associated with heterotaxy syndrome, alobar holoprosencephaly and myelomeningocele: a case report.
AJOG global reportsThe Neural Tube CURE: Engaging undergraduate students in a relevant developmental biology research course.
Developmental biologyUltrasound-guided myelomeningocele drainage at time of cesarean section: A case report.
Case reports in women's healthPoland Anomaly and Atretic Cephalocele in the Same Child: Coincidence or Association?
American journal of medical genetics. Part AFoundations of Myelomeningocele Management: History, Embryology, Diagnosis, and Treatment of Myelomeningoceles Through the Sheffield Study.
World neurosurgeryFrom Sheffield to the Management of Myelomeningocele Study: The Modern Era of Myelomeningocele Management.
World neurosurgeryThe Management of Myelomeningocele Study and Beyond: Trends and Innovations in the Management of Myelomeningocele.
World neurosurgeryA global survey of neurosurgeons' awareness of neural tube defect prevalence, prevention strategies, and their clinical time allocation to spina bifida care.
Child's nervous system : ChNS : official journal of the International Society for Pediatric NeurosurgeryA giant monocular intra-abdominal CSF pseudocyst mimicking mesenteric cyst in a shunted child with spina bifida and hydrocephalus: A case report of diagnostic challenge and surgical management.
International journal of surgery case reportsDandy-Walker malformation associated with massive occipital encephalocele: A case report.
International journal of surgery case reportsPractice of clean intermittent catheterisation in children with spina bifida: A scoping review.
African journal of disabilityNeural Tube Defects in Fetus Exposed to Valproate.
Maternal-fetal medicine (Wolters Kluwer Health, Inc.)A 10-year review of periconceptual folic acid supplementation in women with epilepsy taking antiseizure medications.
The journal of maternal-fetal & neonatal medicine : the official journal of the European Association of Perinatal Medicine, the Federation of Asia and Oceania Perinatal Societies, the International Society of Perinatal ObstetriciansFocal Adhesion Kinase Variants May Contribute to Risk of Human Myelomeningocele.
medRxiv : the preprint server for health sciencesComparing Folic Acid Interventions and Arsenic Reduction Strategies for Neural Tube Defect Prevention in Bangladesh: A Systematic Review and Decision Analysis.
Birth defects researchFirst-In-Human Application of Human Umbilical Cord-Derived Extracellular Vesicles in Tethered Spinal Cord Release Surgery.
Journal of extracellular vesiclesThe Predictive Value of Dry Brain Sign for Open Spina Bifida at First Trimester Anomaly Scan: A Case-Control study.
Academic radiologyPerinatal palliative care in an infant with exencephaly: Supporting life beyond 3 years of age.
Journal of neonatal-perinatal medicinePrenatal Repair of Spina Bifida Using Uterine Wound Retractor: A Single-Center Cohort Study.
Fetal diagnosis and therapyCongenital interparietal encephalocele with porencephlacic cyst: A case report.
Radiology case reportsPresentation and management of neural tube defects in the middle belt of Ghana.
Child's nervous system : ChNS : official journal of the International Society for Pediatric NeurosurgeryChallenges of folate species analysis in food and biological matrices by liquid chromatography-tandem mass spectrometery.
Bioanalysis[Limited dorsal myeloschisis: From antenatal screening to postnatal evolution. About a series of cases from the Grand Est, Bourgogne and Franche-Comté].
Gynecologie, obstetrique, fertilite & senologieSafety and Effectiveness of Fetal Myelomeningocele Repair: Case Series Analysis Using an Exteriorized Uterus and a Fetoscopic Approach.
Fetal diagnosis and therapyPeriodic alternating esotropia associated with disorders of neural tube closure.
Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and StrabismusCholine in Pregnancy and Lactation: Essential Knowledge for Clinical Practice.
NutrientsHuman organoids potentially boost research into environmental factors of neural tube defects.
Reproductive toxicology (Elmsford, N.Y.)Prenatal Detection of TGFBR1 Variant Associated With Severe Ventriculomegaly and Loeys-Dietz Syndrome.
Prenatal diagnosisSerum Prolidase and Ischemia-Modified Albumin Levels in Neural Tube Defects: A Comparative Study of Myelomeningocele, Meningocele, and Myeloschisis.
Medical science monitor : international medical journal of experimental and clinical researchNeural tube defect risk in relation to opioid analgesic exposure during early pregnancy.
American journal of epidemiologyUse of Artificial Intelligence in Recognition of Fetal Open Neural Tube Defect on Prenatal Ultrasound.
American journal of perinatologyReconstruction of thoracolumbar myelomeningocele using double keystone flap in a neonate: a Colombian pediatric case.
Journal of surgical case reportsIncidental Thoracic Th1 Spina Bifida Occulta Detection Following Sports Injury: A Case Report with Comprehensive Radiological Insights.
Journal of orthopaedic case reportsIncidence of neural tube defects in tertiary care university hospital in Bangladesh.
Clinical and experimental pediatricsLumbosacral (myelo) meningoceles in dogs, related tethered cord syndrome, and their surgical management: review of the literature and clinical experience.
Frontiers in veterinary scienceImpact of Prenatal Repair for Fetal Myelomeningocele on Gastrointestinal Function.
The Journal of pediatricsNeural tube defects induce abnormal astrocyte development by activation and epigenetic permissiveness of STAT3.
Experimental neurologyNeural crest and periderm-specific requirements of Irf6 during neural tube and craniofacial development.
Developmental biologyGiant frontonasal encephalocele: surgical considerations through a clinical case and literature review.
Child's nervous system : ChNS : official journal of the International Society for Pediatric NeurosurgeryProtective Effect of myo-Inositol Against Decitabine-Induced Neural Tube Defects in Embryonic Zebrafish.
Neurotoxicity researchFetoscopic repair of open spina bifida between 26 0/7 and 27 6/7 gestational weeks and postnatal cerebrospinal fluid diversion.
The journal of maternal-fetal & neonatal medicine : the official journal of the European Association of Perinatal Medicine, the Federation of Asia and Oceania Perinatal Societies, the International Society of Perinatal ObstetriciansMorphometric Evaluation of Posterior Fossa in Patients Operated Due to Chiari Malformation Type 2.
World neurosurgeryPrenatal predictors of ventriculoperitoneal shunt requirement and adverse perinatal outcomes in newborns with open spina bifida.
International journal of gynaecology and obstetrics: the official organ of the International Federation of Gynaecology and ObstetricsExploring Research Trends and Mechanisms: Maternal Diabetes and Neural Tube Defects (1991-2023).
Journal of multidisciplinary healthcareGestational age at birth varies by surgical technique in prenatal open spina bifida repair: a systematic review and meta-analysis.
American journal of obstetrics and gynecologyPerinatal Outcomes in Patients With Neural Tube Defects in a Middle-Income Setting.
Birth defects researchFolic Acid Prescribing and Reproductive Counseling Practices of Child Neurologists for Women With Epilepsy.
Pediatric neurologyFunctional Evaluation of Neural Tube Defect-Related Missense Mutations Using In Silico Methods.
Birth defects researchA rare case of parasitic rachipagus conjoined twins: illustrative case.
Journal of neurosurgery. Case lessonsSpinal rhabdomyosarcoma in a child at the site of a lumbosacral lipoma: a rare entity.
Child's nervous system : ChNS : official journal of the International Society for Pediatric NeurosurgeryInitial experience with the anaesthetic management of fetoscopic spina bifida repair at a German University Hospital: A case series of 15 patients.
European journal of anaesthesiology and intensive careBirth Defects and Adverse Pregnancy Outcomes in Hospital-based Birth Surveillance in Eswatini.
The Pediatric infectious disease journalFolate fortification to avoid neural tube defects: is European immobilism justified?
European journal of obstetrics, gynecology, and reproductive biologyLumbosacral posterior meningocele in adult patient: a case report.
Journal of surgical case reportsNeurodevelopmental Outcomes after Fetoscopic Myelomeningocele Repair.
The Journal of pediatricsStandardized Note Template Expedites Completion of Consults for Surgical Fetal Anomalies.
The Journal of surgical researchRisk factors of the appearance of anencephaly in Tunisia.
La Tunisie medicaleGiant encephalocele in newborns: prenatal diagnosis, management and outcome.
Child's nervous system : ChNS : official journal of the International Society for Pediatric NeurosurgeryIniencephaly: A Challenging Prenatal Diagnosis of a Neural Tube Defect.
CureusAssessment of awareness, knowledge, and usage of folic acid among females in Jazan Region, Saudi Arabia.
African journal of reproductive healthAnatomical, behavioral, and cognitive teratogenicity associated with valproic acid: a systematic review.
CNS spectrumsA Rare Case of Fetal Neural Tube Defect; Iniencephaly Clausus.
AJP reportsIniencephaly with Craniospinal Rachischisis: A Rare Severe Neural Tube Defect.
Journal of obstetrics and gynaecology Canada : JOGC = Journal d'obstetrique et gynecologie du Canada : JOGCDouble encephalocele in a four-year-old girl: A case report with literature review.
Pakistan journal of medical sciencesAcrania with exencephaly and spinal Myeloschisis in a young pregnant woman from Rural Nepal: A curious case report.
Radiology case reportsThe Intrauterine Treatment of Open Spinal Dysraphism.
Deutsches Arzteblatt internationalBibliometric Analysis of Myelomeningocele Management: National Disease Burden versus Publication Volume.
World neurosurgeryEffect of school feeding program on dietary folate intake among school adolescent girls in Sidama region, southern Ethiopia.
Frontiers in nutritionThe current state of Spina Bifida in low- and middle-income countries: where does Africa stand?
Neuro-ChirurgieOptimizing Myelomeningocele Repair: Assessing the Role of Synthetic Acellular Dermal Regeneration Templates in Complex Closures.
The Journal of craniofacial surgeryTwo-stage surgical intervention for a rare case of intersected nasoethmoidal encephalocele and open-lip schizencephaly in an infant: illustrative case.
Journal of neurosurgery. Case lessonsPharmacological Inhibition of the Spliceosome SF3b Complex by Pladienolide-B Elicits Craniofacial Developmental Defects in Mouse and Zebrafish.
Birth defects researchMeningomyelocele Perioperative Management in Neonatal: Case Series.
Children (Basel, Switzerland)Improvement of serum folate status in the US women of reproductive age with fortified iodised salt with folic acid (FISFA study).
Public health nutritionEpidural Analgesia in a Parturient for Labor Analgesia After Surgical Correction of Spina Bifida.
CureusParticularities of spasticity in myelomeningocele patients.
Child's nervous system : ChNS : official journal of the International Society for Pediatric NeurosurgeryGlial fibrillary acidic protein immunopositive neuroglial tissues with or without ependyma-lined canal in spinal lipoma of filar type: Relationship with retained medullary cord.
Surgical neurology internationalBurden of neural tube defects in India: a systematic review and meta-analysis.
Child's nervous system : ChNS : official journal of the International Society for Pediatric NeurosurgeryFetal Autopsy: Insights Into the Spectrum of Dysraphisms With Associated Anomalies.
CureusAntenatally diagnosed myelomeningocele with associated chiari ii malformation in the third trimester. A case report.
Radiology case reportsB-vitamins and one-carbon metabolism during pregnancy: health impacts and challenges.
The Proceedings of the Nutrition SocietyCellular responses to developmental exposure to pyriproxyfen in chicken model: Contrasting embryos with and without exencephaly.
Neurotoxicology and teratologyA Devastating Diagnosis: Anencephaly With Unexpected Fetal Heartbeat.
CureusGestational Diabetes in Women with Fetal Spina Bifida Repair-Influence of Perioperative Management.
Journal of clinical medicineUse of 'stacked' dermal template: Biodegradable temporising matrix to close a large myelomeningocele defect in a newborn.
Scars, burns & healingEmbolization of an epidural arteriovenous fistula of the sacral nerve root with a neural tube defect: A case report.
International journal of surgery case reportsDwelling proximity to wildfire and spina bifida risk in offspring.
The journal of maternal-fetal & neonatal medicine : the official journal of the European Association of Perinatal Medicine, the Federation of Asia and Oceania Perinatal Societies, the International Society of Perinatal ObstetriciansUnruptured Myelomeningocele Closure Surgery: A Case Report.
CureusThe effect of using synthetic vs. biological dural substitutes during prenatal and postnatal repair of spina bifida on spinal cord tethering-a review of literature.
Child's nervous system : ChNS : official journal of the International Society for Pediatric NeurosurgeryBibliometric Analysis and a Call for Increased Rigor in Citing Scientific Literature: Folic Acid Fortification and Neural Tube Defect Risk as an Example.
NutrientsIn need of robust evidence of non-association of pregestational and early pregnancy SARS-CoV-2 infections with congenital anomalies.
EClinicalMedicineMaternal arsenic exposure modifies associations between arsenic, folate and arsenic metabolism gene variants, and spina bifida risk: A case‒control study in Bangladesh.
Environmental researchInvestigation of the Effect of Tenoxicam on Neural Tube Defect Using Chick Embryo Model.
Turkish neurosurgeryFirst-trimester ultrasound of the cerebral lateral ventricles in fetuses with open spina bifida: a retrospective cohort study.
American journal of obstetrics & gynecology MFMPreconception Folic Acid and Multivitamin Supplementation for the Prevention of Neural Tube Defect: An Umbrella Review of Systematic Review and Meta-analysis.
NeuroepidemiologyCoexistence of neural tube defects and spinal arteriovenous shunts: a case series and review of literature.
Child's nervous system : ChNS : official journal of the International Society for Pediatric NeurosurgeryNeurosurgical management of Myelomeningocele in premature infants: a case series.
Child's nervous system : ChNS : official journal of the International Society for Pediatric NeurosurgeryMaternal Smoking during Pregnancy and its effects on Neural Tube Defects.
Iranian journal of child neurologyEpidemiology of neural tube defects in Finland: a nationwide register study 1987-2018.
International journal of epidemiologyAssociation between the MTHFR (rs1801133) gene variation and serum trace elements levels (Copper and Zinc) in individuals diagnosed with neural tube defects.
Clinica chimica acta; international journal of clinical chemistryCongenital syndromic Chiari-like malformation (CSCM) in Holstein cattle: towards unravelling of possible genetic causes.
Acta veterinaria ScandinavicaKLF12 interacts with TRIM27 to affect cisplatin resistance and cancer metastasis in esophageal squamous cell carcinoma by regulating L1CAM expression.
Drug resistance updates : reviews and commentaries in antimicrobial and anticancer chemotherapyPin1 Downregulation Is Involved in Excess Retinoic Acid-Induced Failure of Neural Tube Closure.
International journal of molecular sciencesComplex neural tube and skeletal malformations, resembling Chiari malformations, in two calves.
Veterinary research communicationsPrognostic risk factors for early outcomes of patients with myelomeningocele: a prospective study.
Child's nervous system : ChNS : official journal of the International Society for Pediatric NeurosurgeryCraniorachischisis in a 33-week-old Female Fetus: A Case Report.
Acta medica PhilippinaDeterminants of neural tube defect among newborns admitted to neonatal intensive care units of teaching hospitals in Gedeo Zone and Sidama Region, Southern Ethiopia: a case-control study.
BMJ paediatrics openCharacteristics and Outcomes of Patients With Spina Bifida in Texas by Patient Age.
The Journal of surgical researchOvercoming Airway Hurdles: A Case Report of Anesthetic Challenges in Meningomyelocele Complications.
CureusRosetteArray® Platform for Quantitative High-Throughput Screening of Human Neurodevelopmental Risk.
bioRxiv : the preprint server for biologyPatterns and short term neurosurgical treatment outcomes of neonates with neural tube defects admitted to Felege Hiwot Specialized Hospital, Bahir Dar, Ethiopia.
BMC pediatricsPrevalence of neural tube defect and its identification during antenatal period: a cross-sectional study in eastern Indian state.
BMJ openExpanding Fortification with Folic Acid: Thinking Outside the Cereal-Grain Box.
NutrientsThe concept of folic acid supplementation and its role in prevention of neural tube defect among pregnant women: PRISMA.
MedicineJunctional Neural Tube Defect : Two Case Report.
Journal of Korean Neurosurgical SocietyAnencephaly in a triplet pregnancy: Unprecedented spontaneous reabsorption in-utero and subsequent normal delivery via c-section: A rare case report.
Radiology case reportsPrevalence and associated factors of congenital anomalies in Ethiopia: A systematic review and meta-analysis.
PloS onePrenatal diagnosis of meningomyelocele resolves as a mature cystic teratoma in the thoracolumbar region.
Child's nervous system : ChNS : official journal of the International Society for Pediatric NeurosurgeryMyelomeningocele: congenital neural tube defect anomaly (a rare clinical image).
The Pan African medical journalSleep-related breathing disorders in infants with spina bifida repaired prenatally and postnatally.
Journal of clinical sleep medicine : JCSM : official publication of the American Academy of Sleep MedicineImmunohistochemical and Histopathological Characterization of Spina Bifida Defect Tissues Removed After Prenatal and Postnatal Surgical Repair.
Fetal and pediatric pathologyCompound heterozygous B3GALNT2 mutations in a fetus with encephalocele: A case report.
Clinical case reportsUnderstanding perspectives on neural tube defect management: insights from Jordanian parents.
The journal of maternal-fetal & neonatal medicine : the official journal of the European Association of Perinatal Medicine, the Federation of Asia and Oceania Perinatal Societies, the International Society of Perinatal ObstetriciansShunt timing in low-weight infants in the treatment of hydrocephalus.
Journal of neurosurgery. PediatricsComparison of terbutaline and atosiban as tocolytic agents in intrauterine repair of myelomeningocele: a retrospective cohort study.
Brazilian journal of anesthesiology (Elsevier)Surgical outcomes of myelomeningocele repair: A 20-year experience from a single center in a middle-income country.
Clinical neurology and neurosurgeryRecurrent neural tube defect and craniorachischisis detected in the first trimester and associated with maternal smoking.
Taiwanese journal of obstetrics & gynecologyPrognostic Significance of Central Skull Base Remodeling in Chiari II Malformation.
AJNR. American journal of neuroradiologySurviving against the odds: exploring the clinical and radiological features of iniencephaly compatible with life. Illustrative case.
Journal of neurosurgery. Case lessonsAnaesthetic managements of 16 days' neonate with large occipital meningeoencephalocele in a resource-limited setting, Ethiopia: a clinical case report and review of literature.
Annals of medicine and surgery (2012)Management of cerebrospinal-fluid-related intracranial abnormalities in frontoethmoidal encephalocele using "Shunt algorithm for frontoethmoidal encephalocele" (SAFE).
Neurosurgical reviewRisk factors associated with congenital central nervous system abnormalities in the National Hospital of Zinder, Niger.
Neuro-ChirurgieA search for factors associated with reduced carbohydrate intake and NTD risk in two population-based studies.
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Referências e fontes
Bases de dados externas citadas neste artigo
Publicações científicas
Artigos indexados no PubMed ligados a esta doença no grafo RarasNet — título, periódico e PMID direto da fonte, sem intermediação de IA.
- Case Report: Surgical management of a meningomyelocele in a cat.
- Effect of Maternal Hyperglycemia on Cortical Neuronal Migration: Hypofunction of Reelin Signaling.
- Identifying Immune Cells as Mediators in the Impact of Gut Microbiota on Congenital Malformations of the Nervous System.
- Effectiveness of Multivitamins vs Folic Acid on Prevention of Neural Tube Defects in Mouse Genetic Models and Human Organoids.
- Successful Management of Community-Acquired Achromobacter xylosoxidans Meningitis in an Infant with Complex Neural Tube Defect.
- Characteristics of repeated untethering pattern in patients with myelomeningocele from infancy to adolescence.
- Hybrid approach to closure in fetoscopic myelomeningocele repair.
- Open fetal myeloschisis closure: pearls for uterine exposure and closure.
- Association of dynamic blood pressure trajectory during pregnancy with adverse birth outcomes: a large prospective cohort study in China.
- A congenital case of nasal lipomeningocele with cerebrospinal fluid rhinorrhea.
Bases de dados e fontes oficiais
Identificadores e referências canônicas usadas para montar este verbete.
- ORPHA:3388(Orphanet)
- MONDO:0018075(MONDO)
- GARD:18796(GARD (NIH))
- Variantes catalogadas(ClinVar)
- Busca completa no PubMed(PubMed)
- Q548213(Wikidata)
Dados compilados pelo RarasNet a partir de fontes abertas (Orphanet, OMIM, MONDO, PubMed/EuropePMC, ClinicalTrials.gov, DATASUS, PCDT/MS). Este conteúdo é informativo e não substitui avaliação médica.
Conteúdo mantido por Agente Raras · Médicos e pesquisadores podem colaborar
