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The China-US partnership to prevent spina bifida : the evolution of a landmark epidemiological study
\"An American-Chinese partnership to prevent spina bifida and related birth defects succeeded through old-fashioned field epidemiology, advocates with influence, and genuine collaboration based on personal relationships built on trust, respect, and shared proboblem-solving\"--Provided by publisher.
Book
An automated framework for localization, segmentation and super-resolution reconstruction of fetal brain MRI
High-resolution volume reconstruction from multiple motion-corrupted stacks of 2D slices plays an increasing role for fetal brain Magnetic Resonance Imaging (MRI) studies. Currently existing reconstruction methods are time-consuming and often require user interactions to localize and extract the brain from several stacks of 2D slices. We propose a fully automatic framework for fetal brain reconstruction that consists of four stages: 1) fetal brain localization based on a coarse segmentation by a Convolutional Neural Network (CNN), 2) fine segmentation by another CNN trained with a multi-scale loss function, 3) novel, single-parameter outlier-robust super-resolution reconstruction, and 4) fast and automatic high-resolution visualization in standard anatomical space suitable for pathological brains. We validated our framework with images from fetuses with normal brains and with variable degrees of ventriculomegaly associated with open spina bifida, a congenital malformation affecting also the brain. Experiments show that each step of our proposed pipeline outperforms state-of-the-art methods in both segmentation and reconstruction comparisons including expert-reader quality assessments. The reconstruction results of our proposed method compare favorably with those obtained by manual, labor-intensive brain segmentation, which unlocks the potential use of automatic fetal brain reconstruction studies in clinical practice.
Journal Article
Association of spinal anomalies with spondylolysis and spina bifida occulta
PurposeTo investigate the association of spinal anomalies with lumbar spondylolysis and spina bifida occulta (SBO).MethodsA total of 1190 patients with thoracic, abdominal, and pelvic computed tomography scans available were categorized according to the number of presacral (thoracic and lumbar) mobile vertebrae and the presence or absence of lumbosacral transitional vertebrae (LSTV). The prevalence of spondylolysis and SBO and the association of spinal anomalies with these disorders were evaluated.ResultsNormal morphology (17 mobile vertebra with no LSTV) was found in 607 men (86.5%) and 419 women (85.9%) and about 14% of patients had anomalies. Spondylolysis was found in 74 patients (6.2%), comprising 54 men (7.7%) and 20 women (4.1%). SBO involving the lumbar spine was found in 9 men (1.3%) and 2 women (0.4%). Spondylolysis was significantly more common in men with 18 vertebrae without LSTV (21.1%) than in those with 17 vertebrae without LSTV (7.2%) (p = 0.002). The prevalence of spinal anomalies was 55.6% in men and 50.0% in women with SBO that included a lumbar level was significantly higher than in both men (13.5%, p < 0.001) and women (4.8%, p = 0.003) without SBO.ConclusionThese findings indicate that there is a relationship between spinal anomalies and both spondylolysis and SBO, which may lead to elucidation of the mechanism of onset of spondylolysis and improve its treatment and prognosis. Awareness that patients with SBO involving the lumbar spine have an increased likelihood of a spinal anomaly may help to prevent level errors during spinal surgery.
Journal Article
Epidemiological differences between the sexes in adolescent patients with lumbar spondylolysis: a single-institution experience in Japan
Background
Lumbar spondylolysis, a common identifiable cause of low back pain in young athletes, reportedly has a higher incidence rate in males. However, the reason for its higher incidence in males is not clear. This study aimed to investigate the epidemiological differences between the sexes in adolescent patients with lumbar spondylolysis.
Methods
A retrospective study was conducted in 197 males and 64 females diagnosed with lumbar spondylolysis. These patients visited our institution from April 2014 to March 2020 with their main complaint being low back pain, and they were followed-up until the end of their treatment. We investigated associations between lumbar spondylosis, their background factors, and characteristics of the lesions and analyzed their treatment results.
Results
Males had a higher prevalence of spina bifida occulta (SBO) (p = 0.0026), more lesions with bone marrow edema (p = 0.0097), and more lesions in the L5 vertebrae (p = 0.021) than females. The popular sports disciplines were baseball, soccer, and track and field in males, and volleyball, basketball, softball in females. The dropout rate, age at diagnosis, bone union rate, and treatment period did not differ between the sexes.
Conclusion
Lumbar spondylolysis was more common in males than in females. SBO, bone marrow edema, and L5 lesions were more frequent in males, and sports discipline varied between the sexes.
Journal Article
MR-Based Morphometry of the Posterior Fossa in Fetuses with Neural Tube Defects of the Spine
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.
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.
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).
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.
Journal Article
Effect of cervical and lumbosacral spina bifida cystica on volumes of intracranial structures in children
Purpose
Spina bifida is a major disorder that occurs when the membranes of the spinal cord and medulla fail to close during the embryonic period and affects the individual for the rest of life. Some physical, mental, and social difficulties can be observed in the lives of children with spina bifida after surgery. The aim of this study is to determine what kind of volumetric changes occur in the brain when spina bifida occurs in different regions of the cord.
Methods
The volume of intracranial structures of 14 children aged 1 to 9 years (7 cervical, 7 lumbosacral) with different levels of spina bifida compared with vol2Brain.
Results
Spina bifida occurring in the cervical region was found to cause a greater volumetric reduction in subcortical structures, cortex and gyrus than spina bifida occurring in the lumbosacral region.
Conclusion
We believe that our study will help clinicians involved in the management of this disorder.
Journal Article
Intra‐amniotic mesenchymal stem cell therapy improves the amniotic fluid microenvironment in rat spina bifida aperta fetuses
Objectives Spina bifida aperta (SBA) is one of the most common neural tube defects. Neural injury in SBA occurs in two stages involving failed neural tube closure and progressive degeneration through contact with the amniotic fluid. We previously suggested that intra‐amniotic bone marrow‐derived mesenchymal stem cell (BMSC) therapy for fetal rat SBA could achieve beneficial functional recovery through lesion‐specific differentiation. The aim of this study is to examine whether the amniotic fluid microenvironment can be improved by intra‐amniotic BMSC transplantation. Methods The intra‐amniotic BMSC injection was performed using in vivo rat fetal SBA models. The various cytokine expressions in rat amniotic fluid were screened by protein microassays. Intervention experiments were used to study the function of differentially expressed cytokines. Results A total of 32 cytokines showed significant upregulated expression in the BMSC‐injected amniotic fluid. We focused on Activin A, NGF, BDNF, CNTF, and CXCR4. Intervention experiments showed that the upregulated Activin A, NGF, BDNF, and CNTF could inhibit apoptosis and promote synaptic development in fetal spinal cords. Inhibiting the activity of these factors weakened the anti‐apoptotic and pro‐differentiation effects of transplanted BMSCs. Inhibition of CXCR4 activity reduced the engraftment rate of BMSCs in SBA fetuses. Conclusion BMSC transplantation can improve the amniotic fluid environment, and this is beneficial for SBA repair. In utero intra‐amniotic BMSC or PBS microinjection in the E15 fetuses was performed in E15 rat fetuses with spina bifida aperta, and amniotic fluid was collected at E21 for protein array detection. Venn diagram shows the relationship of three biological processes (GO: 0030335, 0048699, and 0043524) and the attribution of differentially expressed proteins. Comparative analysis of five proteins with the largest fold changes in the process of generation of neurons.
Journal Article
Ultrasonographic images of spina bifida before obstetric anesthesia: a case series
Background
Spina bifida is a relatively common congenital malformation. As the functional prognosis of patients with spina bifida has improved over time, the number of cases resulting in pregnancy and delivery has increased. Lumbar ultrasonography has become a standard and helpful technique before neuraxial anesthesia. We believe that it might be valuable if we use lumbar ultrasonography to evaluate pregnant women with spina bifida before obstetric anesthesia.
Case presentation
We performed lumbar ultrasonography to evaluate four pregnant women with spina bifida. Patient 1 had no history of surgery. Lumbar radiography before pregnancy showed a bone defect from L5 to the sacrum as a result of incomplete fusion. Magnetic resonance imaging showed a spinal lipoma and a bone defect of the sacrum. Lumbar ultrasonography showed similar findings. We performed general anesthesia for emergency cesarean delivery. Patient 2 underwent surgical repair immediately after birth. Lumbar ultrasonography showed the same bone defect as well as a lipoma beyond the bone defect. We performed general anesthesia for cesarean delivery. Patient 3 had vesicorectal disorders but no prior surgery. Lumbar radiography before pregnancy showed congenital abnormalities such as incomplete fusion, scoliosis, rotation, and a notably small sacrum. Lumbar ultrasonography showed the same bone defect. We performed general anesthesia for cesarean section with no complications. Patient 4 complained of lumbago a few years after her first delivery and received a diagnosis of spina bifida occulta by lumbar radiography, with the incomplete fusion of only the 5th vertebra. Lumbar ultrasonography indicated the same abnormalities. We placed an epidural catheter to avoid the bone abnormality and achieved epidural labor analgesia with no complications.
Conclusions
Lumbar ultrasonography shows anatomic structures easily, safely, and consistently, without X-ray exposure or the need for more expensive modalities. It is a helpful technique to explore anatomic structures potentially complicated by spina bifida before anesthetic procedures.
Journal Article
Case report: double dermal sinus tracts of the cervical and thoracic spine associated with congenital intracranial pathology (hydrocephalus and an interhemispheric cyst) in a newborn patient
Introduction
A dermal sinus tract (DST) is an uncommon type of spinal dysraphisms characterized by a tract lined with stratified squamous epithelium that extends from the subcutaneous tissue to the underlying thecal sac or neural tube. These developmental anomalies can present asymptomatically with cutaneous abnormalities or with devastating complications. Usually, it is presented as a unique lesion, and there are only a few reports that show multiple sinuses, and none of them associated with midline brain malformations.
Methods
We present the case of a 3-day-old girl with an antenatal diagnosis of hydrocephalus who was diagnosed with double dermal sinus tracts of the cervical and thoracic regions at admission. The patient presented signs of elevated intracranial pressure (ICP), which imposed a challenge in the management of the case.
Results
Our patient was successfully treated initially with a lumbar puncture in order to discard a cerebrospinal fluid (CSF) infection. With negative CSF cultures, a ventriculoperitoneal shunt (VPS) was placed. Nine days after the VPS surgery and without signs of infection, the DST was excised in a single procedure, without follow-up complications.
Conclusion
To our knowledge, this is the first description of a patient with multiple midline neural tube defects (NTDs) associated with congenital intracranial pathology. Although there are no guidelines regarding the best treatment for this complex associated pathology, the patient was treated, without follow-up complications.
Journal Article
Spondylolysis and spina bifida occulta in pediatric patients: prevalence study using computed tomography as a screening method
Purpose
The prevalence of spondylolysis reported from radiograph-based studies has been questioned in recent computed tomography (CT)-based studies in adults; however, no new data are available in pediatric patients. Spina bifida occulta (SBO), which has been associated to spondylolysis, may be increasing its prevalence, according to recent studies in adults in the last decades, but without new data in pediatric patients. We aimed to determine the prevalence of spondylolysis and SBO in pediatric patients using abdomen and pelvis CT as a screening tool.
Methods
We studied 228 patients 4–15 years old (107 males), who were evaluated with abdomen and pelvis CT scans for reasons not related to the spine. The entire lumbo-sacral spine was evaluated to detect the presence of spondylolysis and SBO. We compared the prevalence of spondylolysis in patients with and without SBO. A logistic regression analysis was performed to determine the effect of age and sex as independent predictors of spondylolysis and SBO.
Results
The prevalence of spondylolysis was 3.5 % (1.1–5.9 %); 2/8 patients presented with olisthesis, both with grade I slip. The prevalence of SBO was 41.2 % (34.8–59.2 %) (94 patients). Spondylolysis was not more frequent in patients with SBO than in patients without SBO. Male sex and decreasing age independently predicted the presence of SBO, but not of spondylolysis.
Conclusion
We observed a 3.5 % prevalence of spondylolysis and a 41.2 % prevalence of SBO. SBO was significantly more frequent in males and younger patients.
Journal Article