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1.
Ultrasound Obstet Gynecol ; 54(6): 740-745, 2019 Dec.
Article in English | MEDLINE | ID: mdl-30977215

ABSTRACT

OBJECTIVES: To describe a new first-trimester sonographic sign, the 'crash sign', associated with fetal open spina bifida, and to evaluate its clinical usefulness in the first-trimester diagnosis of spina bifida. METHODS: This was a retrospective review of patients referred to three fetal medicine centers in the first trimester (11 + 0 to 13 + 6 weeks) with suspected spina bifida. Spina bifida was confirmed by direct visualization of the spinal defect on ultrasound by two experts and, when possible, by fetal postmortem examination. Ultrasound images were reviewed for the presence of the crash sign, which is the posterior displacement of the mesencephalon and deformation against the occipital bone in the axial view. The first-trimester ultrasound images of a mixed group of 10 cases and 40 control fetuses without spina bifida were assessed for the presence of the crash sign by two assessors blinded to the diagnosis. RESULTS: The crash sign was present in 48 out of 53 confirmed cases of spina bifida. Of these, 27 had isolated spina bifida and 21 had an associated anomaly. Of the five cases without the crash sign, one had isolated spina bifida and four had an associated anomaly. The crash sign was not reported in any of the control fetuses. CONCLUSIONS: We have described a new first-trimester sonographic marker for the diagnosis of spina bifida. Our results suggest that the crash sign may be a useful tool in the first-trimester detection of spina bifida. Prospective evaluation of the crash sign would be beneficial, ideally in a routine clinical screening ultrasound setting. Copyright © 2019 ISUOG. Published by John Wiley & Sons Ltd.


Subject(s)
Fetal Diseases/diagnostic imaging , Nervous System Malformations/diagnostic imaging , Spina Bifida Cystica/diagnostic imaging , Spinal Dysraphism/diagnostic imaging , Ultrasonography, Prenatal/methods , Adult , Autopsy , Early Diagnosis , Female , Fetal Diseases/pathology , Fetus/abnormalities , Fetus/diagnostic imaging , Humans , Nervous System Malformations/pathology , Pregnancy , Pregnancy Trimester, First , Retrospective Studies , Spina Bifida Cystica/pathology , Spinal Dysraphism/pathology
2.
Sci Rep ; 8(1): 10638, 2018 Jul 13.
Article in English | MEDLINE | ID: mdl-30006626

ABSTRACT

Spina bifida aperta is a congenital malformation characterized by the failure of neural tube closure resulting in an unprotected fetal spinal cord. The spinal cord then undergoes progressive damage, likely due to chemical and mechanical factors related to exposure to the intrauterine environment. Astrogliosis in exposed spinal cords has been described in animal models of spina bifida during embryonic life but its relationship with neuroinflammatory processes are completely unknown. Using a retinoic acid-induced rat model of spina bifida we demonstrated that, when exposed to amniotic fluid, fetal spinal cords showed progressive astrogliosis with neuronal loss at mid-gestation (E15) compared to unexposed spinal cords. The number of microglial cells with a reactive phenotype and activation marker expression increased during gestation and exhibited progressive disruption in the inhibitory immune ligand-receptor system. Specifically we demonstrate down-regulation of CD200 expression and up-regulation of CD200R. Exposed spinal cords demonstrated neuroinflammation with increased tissue water content and cytokine production by the end of gestation (E20), which correlated with active Caspase3 expression in the exposed layers. Our findings provide new evidence that microglia activation, including the disruption of the endogenous inhibitory system (CD200-CD200R), may participate in the pathogenesis of spina bifida through late gestation.


Subject(s)
Amniotic Fluid/immunology , Antigens, CD/metabolism , Microglia/metabolism , Receptors, Immunologic/metabolism , Spina Bifida Cystica/immunology , Amniotic Fluid/metabolism , Animals , Antigens, CD/immunology , Caspase 3/immunology , Caspase 3/metabolism , Disease Models, Animal , Down-Regulation , Embryo, Mammalian , Female , Humans , Microglia/immunology , Pregnancy , Rats , Rats, Sprague-Dawley , Receptors, Immunologic/immunology , Spina Bifida Cystica/chemically induced , Spina Bifida Cystica/pathology , Spinal Cord/cytology , Spinal Cord/immunology , Spinal Cord/pathology , Tretinoin/toxicity , Up-Regulation
3.
Sci Rep ; 8(1): 2942, 2018 02 13.
Article in English | MEDLINE | ID: mdl-29440666

ABSTRACT

Neural tube defects (NTDs) are severe congenital abnormalities, caused by failed closure of neural tube during early embryonic development. Periconceptional folic acid (FA) supplementation greatly reduces the risk of NTDs. However, the molecular mechanisms behind NTDs and the preventive role of FA remain unclear. Here, we use human induced pluripotent stem cells (iPSCs) derived from fetuses with spina bifida aperta (SBA) to study the pathophysiology of NTDs and explore the effects of FA exposure. We report that FA exposure in SBA model is necessary for the proper formation and maturation of neural tube structures and robust differentiation of mesodermal derivatives. Additionally, we show that the folate antagonist methotrexate dramatically affects the formation of neural tube structures and FA partially reverts this aberrant phenotype. In conclusion, we present a novel model for human NTDs and provide evidence that it is a powerful tool to investigate the molecular mechanisms underlying NTDs, test drugs for therapeutic approaches.


Subject(s)
Folic Acid/pharmacology , Induced Pluripotent Stem Cells/drug effects , Phenotype , Spina Bifida Cystica/pathology , Cell Differentiation/drug effects , Down-Regulation/drug effects , Humans , Induced Pluripotent Stem Cells/cytology , Induced Pluripotent Stem Cells/metabolism , Muscle Development/drug effects , Neurons/cytology , Neurons/drug effects , PAX3 Transcription Factor/genetics , PAX7 Transcription Factor/genetics , Spheroids, Cellular/cytology , Spheroids, Cellular/drug effects , Up-Regulation/drug effects
4.
Congenit Anom (Kyoto) ; 58(1): 4-9, 2018 Jan.
Article in English | MEDLINE | ID: mdl-28378426

ABSTRACT

The objective of this study was to test three measurements: brain stem (BS), intracranial translucency (IT) and brain stem to occipital bone distance (BSOB), as well as one landmark: cisterna magna (CM) visibility, for early diagnosis of open spina bifida (OSB) in a low risk population. A prospective observational study was undertaken in a university hospital. A sample of 1479 women consented to participate between 20 September 2013 and 30 June 2015. Measurements were performed from the mid-sagittal view, as is routinely used for nuchal thickness assessment. CM visibility was assessed qualitatively as the third anechoic band in the posterior cranial fossa (PCF). All pregnancies were screened with a combination of maternal serum alpha-fetoprotein and second trimester anomaly scan and followed until delivery. Predictive values were calculated for each marker. We were able to diagnose two OSB cases and highly suspect one Dandy-Walker malformation case at the first trimester scan by the observation of PCF. PCF characteristics of OSB cases were increased BS diameter, increased BS-BSOB ratio and non-visualization of the CM. All the markers demonstrated high sensitivity and specificity but CM visibility reached the highest positive predictive value. Due to relatively high false positive rates, PCF measurements could not reach a satisfactory performance to validate their clinical use as a single marker. CM visibility has the advantage of being a qualitative marker and reduces the need for sophisticated and time-consuming measurements. Intracranial translucency and BS-BSOB ratio measurements should be used when the CM visibility is absent or in doubt.


Subject(s)
Brain Stem/diagnostic imaging , Cisterna Magna/diagnostic imaging , Cranial Fossa, Posterior/diagnostic imaging , Occipital Bone/diagnostic imaging , Spina Bifida Cystica/pathology , Adolescent , Adult , Biomarkers/blood , Brain Stem/abnormalities , Cisterna Magna/abnormalities , Cranial Fossa, Posterior/pathology , Female , Gestational Age , Humans , Middle Aged , Nuchal Translucency Measurement , Occipital Bone/pathology , Pregnancy , Pregnancy Trimester, First , Pregnancy Trimester, Second , Prospective Studies , Spina Bifida Cystica/diagnostic imaging , Ultrasonography, Prenatal , alpha-Fetoproteins/metabolism
5.
BMC Res Notes ; 10(1): 771, 2017 Dec 28.
Article in English | MEDLINE | ID: mdl-29282147

ABSTRACT

BACKGROUND: Spina bifida and congenital talipes equinovarus (CTEV) are common congenital malformations which may occur together and increase morbidity. Monozygous twins are particularly at risk of these malformations and discordance in one type of malformation is typical. The occurrence of both spina bifida and CTEV in one twin of a monozygotic pair is rare. CASE PRESENTATION: A 22 year-old Cameroonian primigravida at 36 weeks of a twin gestation was received in our district hospital at the expulsive phase of labour on a background of sub-optimal antenatal care. A caesarean section indicated for cephalo-pelvic disproportion was performed and life monoamniotic male twins were extracted. The first twin was normal. The second twin had spina bifida cystica and severe bilateral CTEV. Routine postnatal care was ensured and at day 2 of life, the affected twin was evacuated to a tertiary hospital for proper management. He was later on reported dead from complications of hydrocephalus. CONCLUSIONS: Spina bifida cystica with severe bilateral CTEV in one twin of a monoamniotic pair illustrates the complexity in the interplay of causal factors of these malformations even among monozygotic twins who are assumed to share similar genetic and environmental features. The occurrence and poor outcome of the malformations was probably potentiated by poor antenatal care. With postnatal diagnoses, a better outcome was difficult to secure even with prompt referral. Early prenatal diagnoses and appropriate counseling of parents are cardinal.


Subject(s)
Clubfoot/diagnosis , Hydrocephalus/diagnosis , Spina Bifida Cystica/diagnosis , Cameroon , Cesarean Section , Clubfoot/complications , Clubfoot/pathology , Female , Humans , Hydrocephalus/complications , Hydrocephalus/pathology , Infant, Newborn , Male , Pregnancy , Prenatal Care/economics , Prenatal Care/ethics , Spina Bifida Cystica/complications , Spina Bifida Cystica/pathology , Twins, Monozygotic , Young Adult
6.
Macromol Biosci ; 17(6)2017 06.
Article in English | MEDLINE | ID: mdl-28135033

ABSTRACT

Current state-of-the-art management of open spina bifida defects entails an open fetal surgery approach associated with significant morbidities. In an attempt to reduce these risks and provide for an earlier minimally invasive repair, it is aimed to develop and characterize an innovative alternative using a unique reverse thermal gel. This study focuses on characterization of the physical and biological properties of the polymer and its in vivo applicability. Based on the knowledge and benchmarking, the "ideal" biomaterial should have the following characteristics: stability in amniotic fluid, limited permeability, biocompatibility, biologically functional, nontoxic, ability to support cellular functions, and in vivo applicability. The results demonstrate that the polymer possesses a unique ultrastructure, is stable in amniotic fluid, possesses limited yet predictable permeability, biocompatible with cells exposed in neural tube defects, is nontoxic, and can support cellular migration. These characteristics make it a potential novel alternative to open fetal repairs.


Subject(s)
Amniotic Fluid/drug effects , Biocompatible Materials/therapeutic use , Minimally Invasive Surgical Procedures , Polymers/therapeutic use , Spina Bifida Cystica/therapy , Amniotic Fluid/physiology , Biocompatible Materials/chemistry , Biomedical Engineering , Cell Movement/drug effects , Female , Fetus/drug effects , Fetus/pathology , Fetus/surgery , Humans , Neural Tube Defects/surgery , Polymers/chemistry , Spina Bifida Cystica/pathology
7.
Brain Res ; 1619: 84-90, 2015 Sep 04.
Article in English | MEDLINE | ID: mdl-25498106

ABSTRACT

Myelomeningocele (MMC) is a devastating spinal cord birth defect, which results in significant life-long disabilities, impaired quality of life, and difficult medical management. The pathological progression of MMC involves failure in neural tube and vertebral arch closure at early gestational ages, followed by subsequent impairment in spinal cord and vertebral growth during fetal development. MMC is irreversible at term. Thus, prenatal therapeutic strategies that interrupt progressive pathological processes offer an appealing approach for treatment of MMC. However, a thorough understanding of pathological progression of MMC is mandatory for appropriate treatment to be rendered. This article is part of a Special Issue entitled SI: Spinal cord injury.


Subject(s)
Meningomyelocele/pathology , Spina Bifida Cystica/pathology , Animals , Disease Models, Animal , Disease Progression , Humans , Imaging, Three-Dimensional , Meningomyelocele/complications , Meningomyelocele/therapy , Spina Bifida Cystica/complications , Spina Bifida Cystica/therapy , X-Ray Microtomography
8.
PLoS One ; 9(11): e112585, 2014.
Article in English | MEDLINE | ID: mdl-25393279

ABSTRACT

OBJECTIVES: In cases of "spina bifida," a detailed prenatal imaging assessment of the exact morphology of neural tube defects (NTD) is often limited. Due to the diverse clinical prognosis and prenatal treatment options, imaging parameters that support the prenatal differentiation between open and closed neural tube defects (ONTDs and CNTDs) are required. This fetal MR study aims to evaluate the clivus-supraocciput angle (CSA) and the maximum transverse diameter of the posterior fossa (TDPF) as morphometric parameters to aid in the reliable diagnosis of either ONTDs or CNTDs. METHODS: The TDPF and the CSA of 238 fetuses (20-37 GW, mean: 28.36 GW) with a normal central nervous system, 44 with ONTDS, and 13 with CNTDs (18-37 GW, mean: 24.3 GW) were retrospectively measured using T2-weighted 1.5 Tesla MR -sequences. RESULTS: Normal fetuses showed a significant increase in the TDPF (r = .956; p<.001) and CSA (r = .714; p<.001) with gestational age. In ONTDs the CSA was significantly smaller (p<.001) than in normal controls and CNTDs, whereas in CNTDs the CSA was not significantly smaller than in controls (p = .160). In both ONTDs and in CNTDs the TDPF was significantly different from controls (p<.001). CONCLUSIONS: The skull base morphology in fetuses with ONTDs differs significantly from cases with CNTDs and normal controls. This is the first study to show that the CSA changes during gestation and that it is a reliable imaging biomarker to distinguish between ONTDs and CNTDs, independent of the morphology of the spinal defect.


Subject(s)
Brain/pathology , Image Interpretation, Computer-Assisted , Prenatal Diagnosis/instrumentation , Spina Bifida Cystica/diagnosis , Spina Bifida Occulta/diagnosis , Case-Control Studies , Diagnosis, Differential , Female , Fetus , Gestational Age , Humans , Magnetic Resonance Imaging , Pregnancy , Retrospective Studies , Spina Bifida Cystica/pathology , Spina Bifida Occulta/pathology
9.
J Neurosurg Pediatr ; 13(2): 204-8, 2014 Feb.
Article in English | MEDLINE | ID: mdl-24359211

ABSTRACT

Nonterminal myelocystocele is a rare type of spinal dysraphism characterized by a closed defect with an underlying CSF-filled cyst, either contiguous with the central spinal canal or attached to the spinal cord by a fibrovascular stalk. The authors report the unusual case of a neonate with a prenatal diagnosis of cervicothoracic nonterminal myelocystocele who underwent postnatal surgical untethering of the lesion. Pathological analysis of the excised lesion revealed neuroglial tissue with an ependymal lining associated with a mature teratoma. Three months after surgery, the patient has normal lower-extremity sensorimotor function and no evidence of bowel or bladder dysfunction. To the best of the authors' knowledge, this is the first report of a patient with a nonterminal myelocystocele found to have an associated mature teratoma.


Subject(s)
Meningomyelocele/diagnosis , Meningomyelocele/surgery , Spina Bifida Cystica/diagnosis , Spina Bifida Cystica/surgery , Spinal Cord Neoplasms/diagnosis , Spinal Cord Neoplasms/surgery , Teratoma/diagnosis , Teratoma/surgery , Cervical Vertebrae , Female , Humans , Infant, Newborn , Lower Extremity/physiopathology , Magnetic Resonance Imaging , Meningomyelocele/complications , Meningomyelocele/pathology , Prenatal Diagnosis , Recovery of Function , Spina Bifida Cystica/complications , Spina Bifida Cystica/pathology , Spinal Cord Neoplasms/complications , Spinal Cord Neoplasms/pathology , Teratoma/complications , Teratoma/pathology , Thoracic Vertebrae , Treatment Outcome
10.
PLoS One ; 8(8): e70457, 2013.
Article in English | MEDLINE | ID: mdl-23936434

ABSTRACT

BACKGROUND: A large number of studies have confirmed that excessive apoptosis is one of the reasons for deficient neuronal function in neural tube defects (NTDs). A previous study from our laboratory used 2-D gel electrophoresis to demonstrate that 14-3-3ζ expression was low in the spinal cords of rat fetuses with spina bifida aperta at embryonic day (E) 17. As a member of the 14-3-3 protein family, 14-3-3ζ plays a crucial role in the determination of cell fate and anti-apoptotic activity. However, neither the expression of 14-3-3ζ in defective spinal cords, nor the correlation between 14-3-3ζ and excessive apoptosis in NTDs has been fully confirmed. METHODOLOGY/PRINCIPAL FINDINGS: We used immunoblotting and quantitative real-time PCR (qRT-PCR) to quantify the expression of 14-3-3ζ and double immunofluorescence to visualize 14-3-3ζ and apoptosis. We found that, compared with controls, 14-3-3ζ was down-regulated in spina bifida between E12 and E15. Excessive apoptotic cells and low expression of 14-3-3ζ were observed in the dorsal region of spinal cords with spina bifida during the same time period. To initially explore the molecular mechanisms of apoptosis in NTDs, we investigated the expression of microRNA-7 (miR-7), microRNA-375 (miR-375) and microRNA-451 (miR-451), which are known to down-regulate 14-3-3ζ in several different cell types. We also investigated the expression of p53, a molecule that is downstream of 14-3-3ζ and can be down-regulated by it. We discovered that, in contrast to the reduction of 14-3-3ζ expression, the expression of miR-451, miR-375 and p53 increased in spina bifida rat fetuses. CONCLUSIONS/SIGNIFICANCE: These data suggest that the reduced expression of 14-3-3ζ plays a role in the excessive apoptosis that occurs in spina bifida and may be partly regulated by the over-expression of miR-451 and miR-375, and the consequent up-regulation of p53 might further promote apoptosis in spina bifida.


Subject(s)
14-3-3 Proteins/genetics , Fetus/metabolism , Gene Expression Regulation , Spina Bifida Cystica/genetics , Spinal Cord/metabolism , Animals , Apoptosis/drug effects , Down-Regulation/drug effects , Female , Gene Expression Regulation/drug effects , Male , MicroRNAs/genetics , Pregnancy , Rats , Spina Bifida Cystica/chemically induced , Spina Bifida Cystica/metabolism , Spina Bifida Cystica/pathology , Spinal Cord/pathology , Tretinoin/adverse effects , Tumor Suppressor Protein p53/metabolism , Up-Regulation/drug effects
12.
Int J Dev Neurosci ; 30(5): 375-81, 2012 Aug.
Article in English | MEDLINE | ID: mdl-22504176

ABSTRACT

Spina bifida is a complex congenital malformation resulting from failure of fusion in the spinal neural tube during embryogenesis. However, the cellular mechanism underlying spina bifida is not fully understood. Here, we investigated cell apoptosis in whole embryos and proliferation of neural progenitor cells in the spinal neural tube during neurulation in all-trans retinoic acid (atRA)-induced spina bifida in fetal rats. Cell apoptosis was assessed by TUNEL assay on whole-mount and serially sectioned samples of rat embryos with spina bifida. Cell proliferation of lumbo-sacral neural progenitor cells was assessed by staining for the mitotic marker Ki67 and pH3. We found an excess of apoptosis in the neuroepithelium of embryos with spina bifida, which became more marked as embryos progress from E11 to E13. Conversely, there was a reduction in cell proliferation in spina bifida embryos, with a progressively greater difference from controls with stage from E11 to 13. Thus, atRA-induced spina bifida in rat shows perturbed apoptosis and proliferation of neural progenitors in the lumbo-sacral spinal cord during embryonic development, which might contribute to the pathogenesis of spina bifida.


Subject(s)
Apoptosis/physiology , Cell Proliferation , Epithelium/pathology , Neural Tube/pathology , Prenatal Exposure Delayed Effects/pathology , Spina Bifida Cystica/pathology , Analysis of Variance , Animals , Animals, Newborn , Antineoplastic Agents/toxicity , Apoptosis/drug effects , Cell Proliferation/drug effects , Disease Models, Animal , Embryo, Mammalian , Female , Gene Expression Regulation, Developmental/drug effects , In Situ Nick-End Labeling , Lumbosacral Region , Male , Pregnancy , Prenatal Exposure Delayed Effects/chemically induced , Prenatal Exposure Delayed Effects/physiopathology , Procollagen-Proline Dioxygenase/metabolism , Rats , Rats, Wistar , Spina Bifida Cystica/chemically induced , Tretinoin/toxicity
13.
J Proteomics ; 75(2): 668-76, 2011 Dec 21.
Article in English | MEDLINE | ID: mdl-21945729

ABSTRACT

Neural tube defects (NTDs) are complex congenital anomalies of the central nervous system, with a prevalence of 5 per 10,000 worldwide. However, current therapeutics for NTDs are unsatisfactory. The neurological complications remain the main problem for therapy. Neurological dysfunction could result from the primary defect or injuries to the uncovered neural tissue in the uterus. However, the pathological changes in the uncovered neural tissue have not been described. Here, we present our comparative proteomics study of the spinal cord from rat fetuses with all-trans retinoic-acid-induced spina bifida aperta. Proteins from spinal cords were subjected to 2-D gel electrophoresis, then protein identification by mass spectrometry. We identified 13 proteins with differential expression between normal spinal cords and those with spina bifida aperta. These identified proteins were reported to be involved in signal transduction, cell adhesion and migration, protein folding and apoptosis. We confirmed 4 identified proteins by immunoblot analysis and assessed their mRNA levels by quantitative real-time PCR. This is the first comparative proteomics of spinal cords from rat fetuses with spina bifida aperta. We demonstrate protein alterations that reflect the pathological situation of the uncovered neural tissue, which may help improve the treatment of NTDs.


Subject(s)
Nerve Tissue Proteins/chemistry , Spina Bifida Cystica/metabolism , Spinal Cord/metabolism , Animals , Electrophoresis, Gel, Two-Dimensional , Fetus/metabolism , Proteomics , Rats , Rats, Wistar , Spectrometry, Mass, Matrix-Assisted Laser Desorption-Ionization , Spina Bifida Cystica/chemically induced , Spina Bifida Cystica/pathology , Spinal Cord/embryology , Tretinoin
14.
J Matern Fetal Neonatal Med ; 24(10): 1243-8, 2011 Oct.
Article in English | MEDLINE | ID: mdl-21848412

ABSTRACT

OBJECTIVE: To assess the ability of a three-layer graft in the closuse of large fetal skin defects. METHODS: Ovine fetuses underwent a large (4 × 3 cm) full-thickness skin defect over the lumbar region at 105 days' gestation (term = 140 days). A bilaminar artificial skin was placed over a cellulose interface to cover the defect (3-layer graft). The skin was partially reapproximated with a continuous nylon suture. Pregnancy was allowed to continue and the surgical site was submitted to histopathological analysis at different post-operative intervals. RESULTS: Seven fetuses underwent surgery. One maternal/fetal death occurred, and the remaining 6 fetuses were analyzed. Artificial skin adherence to the wound edges was observed in cases that remained in utero for at least 15 days. Neoskin was present beneath the silicone layer of the bilaminar artificial skin. CONCLUSIONS: Our study shows that neoskin can develop in the fetus using a 3-layer graft, including epidermal growth beneath the silicone layer of the bilaminar skin graft. These findings suggest that the fetus is able to reepithelialise even large skin defects. Further experience is necessary to assess the quality of this repair.


Subject(s)
Fetoscopy , Skin Transplantation/methods , Skin, Artificial , Spina Bifida Cystica/therapy , Animals , Female , Models, Animal , Pregnancy , Sheep , Skin/pathology , Spina Bifida Cystica/pathology
15.
J Neurosurg Pediatr ; 8(1): 107-11, 2011 Jul.
Article in English | MEDLINE | ID: mdl-21721897

ABSTRACT

Intracranial endoscopy in the treatment of hydrocephalus, arachnoid cysts, or brain tumors has gained wide acceptance, but the use of endoscopy for intradural navigation in the pediatric spine has received much less attention. The aim of the authors' present study was to analyze their experience in using spinal endoscopy to treat various pathologies of the spinal canal. The authors performed a retrospective review of intradural spinal endoscopic cases at their institution. They describe 4 representative cases, including an arachnoid cyst, intrinsic spinal cord tumor, holocord syrinx, and split cord malformation. Intradural spinal endoscopy was useful in treating the aforementioned lesions. It resulted in a more limited laminectomy and myelotomy, and it assisted in identifying a residual spinal cord tumor. It was also useful in the fenestration of a multilevel arachnoid cyst and in confirming communication of fluid spaces in the setting of a complex holocord syrinx. Endoscopy aided in the visualization of the spinal cord to ensure the absence of tethering in the case of a long-length Type II split spinal cord malformation. Conclusions Based on their experience, the authors found intradural endoscopy to be a useful surgical adjunct and one that helped to decrease morbidity through reduced laminectomy and myelotomy. With advances in technology, the authors believe that intradural endoscopy will begin to be used by more neurosurgeons for treating diseases of this anatomical region.


Subject(s)
Astrocytoma/surgery , Endoscopy/instrumentation , Neural Tube Defects/surgery , Spina Bifida Cystica/surgery , Spinal Cord Neoplasms/surgery , Spinal Dysraphism/surgery , Syringomyelia/surgery , Adolescent , Arachnoid Cysts/diagnosis , Arachnoid Cysts/pathology , Arachnoid Cysts/surgery , Astrocytoma/diagnosis , Astrocytoma/pathology , Cervical Vertebrae/surgery , Child, Preschool , Equipment Design , Female , Humans , Image Processing, Computer-Assisted , Infant , Laminectomy/instrumentation , Lumbar Vertebrae/surgery , Magnetic Resonance Imaging , Male , Microsurgery/instrumentation , Myelography , Neural Tube Defects/diagnosis , Neural Tube Defects/pathology , Neurologic Examination , Postoperative Complications/diagnosis , Spina Bifida Cystica/diagnosis , Spina Bifida Cystica/pathology , Spinal Cord Diseases/diagnosis , Spinal Cord Diseases/pathology , Spinal Cord Diseases/surgery , Spinal Cord Neoplasms/diagnosis , Spinal Cord Neoplasms/pathology , Spinal Dysraphism/diagnosis , Spinal Dysraphism/pathology , Syringomyelia/diagnosis , Thoracic Vertebrae/surgery , Tomography, X-Ray Computed
16.
Neurosci Res ; 71(1): 85-91, 2011 Sep.
Article in English | MEDLINE | ID: mdl-21658418

ABSTRACT

Spina bifida aperta (SBA) is an open neural tube defect that occurs during the embryonic period. We created SBA chicks by incising the roof plate of the neural tube in the embryo. The area of the dorsal funiculus was smaller in the SBA chicks than in the normal controls. Additionally, the SBA group had fewer nerve fibres in the dorsal funiculus than the normal controls. The pathway of the ascending sensory nerves was revealed by tracing the degenerated nerve fibres using osmification. We cut the sciatic nerve (L5) of the control and SBA chicks at the central end of the dorsal root ganglion 1 day after hatching and fixed the tissue 3 days later. Degenerated sensory nerve fibres were observed in the ipsilateral dorsal funiculus in the control chicks. In contrast, degenerated sensory nerve fibres were observed in the ipsilateral and contralateral dorsal, ventral and lateral funiculi of the spinal cord in the SBA chicks. Consequently, fewer sensory nerve fibres ascended to the thoracic dorsal funiculus in the SBA chicks than in the normal controls. This is the first report of abnormal changes in the ascending sensory nerve fibres in SBA.


Subject(s)
Axons/pathology , Spina Bifida Cystica/pathology , Spinal Cord/abnormalities , Wallerian Degeneration/pathology , Afferent Pathways/abnormalities , Afferent Pathways/pathology , Afferent Pathways/physiopathology , Animals , Chick Embryo , Chickens , Disease Models, Animal , Gait Disorders, Neurologic/etiology , Gait Disorders, Neurologic/pathology , Gait Disorders, Neurologic/physiopathology , Growth Cones/pathology , Hindlimb/innervation , Hindlimb/physiopathology , Rhizotomy/methods , Sensory Receptor Cells/pathology , Spina Bifida Cystica/physiopathology , Spinal Cord/pathology , Spinal Cord/physiopathology , Spinal Nerve Roots/pathology , Spinal Nerve Roots/physiopathology , Spinal Nerve Roots/surgery , Wallerian Degeneration/etiology , Wallerian Degeneration/physiopathology
17.
Brain Pathol ; 21(2): 163-79, 2011 Mar.
Article in English | MEDLINE | ID: mdl-21269337

ABSTRACT

In human spina bifida aperta (SBA), cerebral pathogenesis [hydrocephalus, Sylvius aqueduct (SA) stenosis and heterotopias] is poorly understood. In animal models, loss of ventricular lining (ependymal denudation) causes SA stenosis and hydrocephalus. We aimed to investigate whether ependymal denudation also takes place in human foetal SBA. Considering that ependymal denudation would be related to alterations in junction proteins, sections through SA of five SBA and six control foetuses (gestational ages ranged between 37 and 40 weeks) were immunostained for markers of ependyma (caveolin 1, ßIV-tubulin, S100), junction proteins (N-cadherin, connexin-43, neural cell adhesion molecule (NCAM), blood vessels (Glut-1) and astrocytes [glial fibrillary acidic protein (GFAP)]. In control foetuses, ependymal denudation was absent. In SBA foetuses different stages of ependymal denudation were observed: (i) intact ependyma/neuroepithelium; (ii) imminent ependymal denudation (with abnormal subcellular location of junction proteins); (iii) ependymal denudation (with protrusion of neuropile into SA, formation of rosettes and macrophage invasion); (iv) astroglial reaction. It is suggested that abnormalities in the formation of gap and adherent junctions result in defective ependymal coupling, desynchronized ciliary beating and ependymal denudation, leading to hydrocephalus. The presence of various stages of ependymal denudation within the same full-term SBA foetuses suggests continuation of the process after birth.


Subject(s)
Cerebral Aqueduct/pathology , Ependyma/pathology , Spina Bifida Cystica/pathology , Fetus , Fluorescent Antibody Technique , Humans , Hydrocephalus/etiology , Hydrocephalus/pathology , Microscopy, Confocal , Spina Bifida Cystica/complications
18.
Childs Nerv Syst ; 27(5): 723-8, 2011 May.
Article in English | MEDLINE | ID: mdl-21080174

ABSTRACT

PURPOSE: Spina bifida cystica (SBC) is a group of neurodevelopmental defects caused by improper neural tube closure, which may be responsible for deficits in cognitive functions. The purpose of this study was to examine changes in normal appearing deep gray and white matter brain regions in SBC patients compared with controls through diffusion tensor imaging (DTI) and correlate these changes with neuropsychometric tests. METHODS: Conventional magnetic resonance imaging and neuropsychometric tests were performed on 13 patients and ten controls. DTI-derived fractional anisotropy (FA) and mean diffusivity (MD) were quantified in different brain regions in controls and patients. RESULTS: Significantly decreased FA was observed in caudate nuclei, putamen, genu, splenium, and increased FA was found in middle cerebellar peduncle (MCP) in patients compared with controls. We observed significantly increased MD in genu and splenium. However, increased MD was found in fornix of patients compared with controls. Majority of neuropsychological tests were found to be significantly impaired and some of these showed significant correlation with DTI metrics in genu, splenium, and MCP in these patients. CONCLUSIONS: We conclude that DTI metrics are significantly abnormal in deep gray matter nuclei, genu, splenium, and MCP in SBC patients and may provide microstructural basis for neuropsychological abnormalities in these patients.


Subject(s)
Brain/abnormalities , Cognition Disorders/pathology , Spina Bifida Cystica/pathology , Adolescent , Child , Cognition Disorders/etiology , Diffusion Tensor Imaging , Female , Humans , Male , Neuropsychological Tests , Spina Bifida Cystica/complications
19.
Neurol Med Chir (Tokyo) ; 50(9): 870-6, 2010.
Article in English | MEDLINE | ID: mdl-20885122

ABSTRACT

Myeloschisis is the most serious and complex congenital anomaly in spina bifida manifesta (cystica). However, with improvements in medical care and increased understanding of its pathophysiology, the associated long-term morbidity and mortality rates have been significantly reduced. This article reviews various issues associated with the neurosurgical management of patients with myeloschisis, such as perinatal management, repair surgery for myeloschisis, neurosurgical management of hydrocephalus, Chiari malformation type II, tethered cord syndrome and epilepsy, and intrauterine fetal surgery.


Subject(s)
Neurosurgical Procedures/methods , Neurosurgical Procedures/trends , Spina Bifida Cystica/pathology , Spina Bifida Cystica/surgery , Spinal Dysraphism/pathology , Spinal Dysraphism/surgery , Humans , Lumbar Vertebrae/abnormalities , Lumbar Vertebrae/pathology , Lumbar Vertebrae/surgery , Neurosurgical Procedures/standards , Sacrum/abnormalities , Sacrum/pathology , Sacrum/surgery , Spinal Cord/abnormalities , Spinal Cord/pathology , Spinal Cord/surgery
20.
J Clin Neurosci ; 17(7): 879-85, 2010 Jul.
Article in English | MEDLINE | ID: mdl-20400314

ABSTRACT

The aim of this study was to use diffusion tensor imaging (DTI) to identify differences in the maturation of deep gray matter (GM) and white matter (WM) between patients with spina bifida cystica (SBC) (n=29) with normal-appearing brains on conventional MRI, and age-matched and sex-matched healthy control participants (n=33). Changes in DTI metrics were calculated using a log-linear regression model. We observed increasing fractional anisotropy (FA) with age in the occipital, fornix, cingulum and middle cerebellar peduncles and decreasing FA with age in the genu and splenium of the corpus callosum (CC) and caudate nuclei in patients compared to controls. Increasing FA values in some of the WM structures probably represent faulty WM maturation, whereas decreasing FA values in the CC represents changes secondary to the affected WM fibers contributing to the CC. DTI changes in deep GM and WM in the absence of any abnormality on conventional MRI might provide the basis for cognitive decline in these patients.


Subject(s)
Cerebral Cortex/growth & development , Cerebral Cortex/pathology , Diffusion Tensor Imaging , Nerve Fibers, Myelinated/pathology , Nerve Fibers, Myelinated/physiology , Spina Bifida Cystica/pathology , Adolescent , Adult , Brain/growth & development , Brain/pathology , Cell Differentiation/physiology , Child , Child, Preschool , Diffusion Tensor Imaging/methods , Female , Humans , Infant , Male , Young Adult
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