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1.
Acta Neurochir (Wien) ; 166(1): 270, 2024 Jun 17.
Artículo en Inglés | MEDLINE | ID: mdl-38884665

RESUMEN

BACKGROUND: Myelocele is a rare form of open spina bifida. Surgical repair is recommended prenatally or in the first 48 h. In some cases, the repair may be delayed, and specific surgical factors need to be considered. METHOD: We give a brief overview of the surgical anatomy, followed by a description of the surgical repair of a thoracolumbar Myelocele in an 11-month-old child. CONCLUSION: Surgical repair of the Myelocele stabilizes the neurological status, prevents local and central nervous system infections. The understanding of Myelocele anatomy enables its removal while preserving as much healthy tissue as possible and restoring normal anatomy.


Asunto(s)
Vértebras Lumbares , Vértebras Torácicas , Humanos , Vértebras Torácicas/cirugía , Vértebras Torácicas/diagnóstico por imagen , Lactante , Vértebras Lumbares/cirugía , Meningomielocele/cirugía , Procedimientos Neuroquirúrgicos/métodos , Resultado del Tratamiento , Masculino , Disrafia Espinal/cirugía , Imagen por Resonancia Magnética
2.
BMC Pediatr ; 24(1): 350, 2024 May 22.
Artículo en Inglés | MEDLINE | ID: mdl-38773409

RESUMEN

BACKGROUND: Neural tube defects (NTDs) account for the largest proportion of congenital anomalies of the central nervous system and result from failure of the neural tube to close spontaneously between the 3rd and 4th weeks of in utero development. Prognosis and treatment outcome depends on the nature and the pattern of the defect. The nature of treatment outcomes and its pattern associated with grave prognosis is not well known in the study area. OBJECTIVE: The aim of study was to determine the patterns and short term neurosurgical management outcomes of newborns with neural tube defects admitted at Felege Hiwot Specialized Hospital. METHODS: Institutional based retrospective cross-sectional study among neonates, who were admitted at Felege Hiwot Specialized Hospital with neural tube defects from January 1st to December, 30th, 2018 was conducted. All Charts of Neonates with confirmed diagnosis of neural tube defects were included as part of the study. Trained data collectors (medical interns) supervised by trained supervisors (general practitioners) collected the data using a pretested data extraction format. Data were coded, entered and analyzed using SPSS version 23 software. Frequency and cross tabulations were used to summarize descriptive statistics of data, and tables and graphs were used for data presentation. RESULT: About 109 patients had complete documentation and imaging confirmed neural tube defects. Myelomeningocele was the commonest pattern 70 (64.2%). Thoracolumbar spine was the commonest site of presentation 49(45%). The most common associated impairment was hydrocephalus 37(33.9%). Forty-five (41.1%) had multiple complications. The mortality rate was 7.3%, 44% were discharged with sequalae and 36.7% were discharged without impairment. The significant causes of death were infection 66.7% and Chiari crisis 33.3%. CONCLUSION: Myelomeningocele was the most frequent clinical pattern of neural tube defect and thoracolumbar spine was the commonest site. Isolated neural tube defect was the commonest finding. There were multiple complications after surgery accompanied with meningitis and hydrocephalus. The mortality rate among neonates with neural tube defects was considerably high. The commonest causes of death were infection and Chiari crisis.


Asunto(s)
Defectos del Tubo Neural , Humanos , Recién Nacido , Estudios Transversales , Estudios Retrospectivos , Etiopía/epidemiología , Defectos del Tubo Neural/cirugía , Femenino , Masculino , Procedimientos Neuroquirúrgicos/estadística & datos numéricos , Procedimientos Neuroquirúrgicos/métodos , Resultado del Tratamiento , Hidrocefalia/cirugía , Hospitales Especializados/estadística & datos numéricos , Meningomielocele/cirugía , Meningomielocele/complicaciones
4.
Exp Cell Res ; 439(1): 114048, 2024 Jun 01.
Artículo en Inglés | MEDLINE | ID: mdl-38697275

RESUMEN

Prenatal surgery for the treatment of spina bifida (myelomeningocele, MMC) significantly enhances the neurological prognosis of the patient. To ensure better protection of the spinal cord by large defects, the application of skin grafts produced with cells gained from the amniotic fluid is presently studied. In order to determine the most appropriate cells for this purpose, we tried to shed light on the extremely complex amniotic fluid cellular composition in healthy and MMC pregnancies. We exploited the potential of micro-Raman spectroscopy to analyse and characterize human amniotic fluid cells in total and putative (cKit/CD117-positive) stem cells of fetuses with MMC in comparison with amniotic fluid cells from healthy individuals, human fetal dermal fibroblasts and adult adipose derived stem cells. We found that (i) the differences between healthy and MMC amniocytes can be attributed to specific spectral regions involving collagen, lipids, sugars, tryptophan, aspartate, glutamate, and carotenoids, (ii) MMC amniotic fluid contains two particular cell populations which are absent or reduced in normal pregnancies, (iii) the cKit-negative healthy amniocyte subpopulation shares molecular features with human fetal fibroblasts. On the one hand we demonstrate a different amniotic fluid cellular composition in healthy and MMC pregnancies, on the other our work confirms micro-Raman spectroscopy to be a valuable tool for discriminating cell populations in unknown mixtures of cells.


Asunto(s)
Líquido Amniótico , Feto , Meningomielocele , Espectrometría Raman , Humanos , Espectrometría Raman/métodos , Líquido Amniótico/citología , Líquido Amniótico/metabolismo , Meningomielocele/metabolismo , Meningomielocele/patología , Femenino , Embarazo , Feto/metabolismo , Fibroblastos/metabolismo , Fibroblastos/patología , Células Cultivadas , Adulto
5.
Science ; 384(6695): 584-590, 2024 05 03.
Artículo en Inglés | MEDLINE | ID: mdl-38696583

RESUMEN

Meningomyelocele is one of the most severe forms of neural tube defects (NTDs) and the most frequent structural birth defect of the central nervous system. We assembled the Spina Bifida Sequencing Consortium to identify causes. Exome and genome sequencing of 715 parent-offspring trios identified six patients with chromosomal 22q11.2 deletions, suggesting a 23-fold increased risk compared with the general population. Furthermore, analysis of a separate 22q11.2 deletion cohort suggested a 12- to 15-fold increased NTD risk of meningomyelocele. The loss of Crkl, one of several neural tube-expressed genes within the minimal deletion interval, was sufficient to replicate NTDs in mice, where both penetrance and expressivity were exacerbated by maternal folate deficiency. Thus, the common 22q11.2 deletion confers substantial meningomyelocele risk, which is partially alleviated by folate supplementation.


Asunto(s)
Deleción Cromosómica , Cromosomas Humanos Par 22 , Meningomielocele , Animales , Femenino , Humanos , Masculino , Ratones , Cromosomas Humanos Par 22/genética , Síndrome de DiGeorge/genética , Secuenciación del Exoma , Ácido Fólico/administración & dosificación , Deficiencia de Ácido Fólico/complicaciones , Deficiencia de Ácido Fólico/genética , Meningomielocele/epidemiología , Meningomielocele/genética , Penetrancia , Disrafia Espinal/genética , Riesgo , Proteínas Adaptadoras Transductoras de Señales/genética
6.
Adv Tech Stand Neurosurg ; 49: 95-122, 2024.
Artículo en Inglés | MEDLINE | ID: mdl-38700682

RESUMEN

Open spina bifida, also known as myelomeningocele (MMC), is the most challenging and severe birth defect of the central nervous system compatible with life and it is due to a failure in the dorsal fusion of the nascent neural tube during embryonic development. MMC is often accompanied by a constellation of collateral conditions, including hydrocephalus, Arnold - Chiari II malformation, brainstem disfunction, hydrosyringomyelia, tethered cord syndrome and scoliosis. Beyond early surgical repair of the dorsal defect, MMC requires lifelong cares. Several additional surgical procedures are generally necessary to improve the long-term outcomes of patients affected by MMC and multidisciplinary evaluations are crucial for early identification and management of the various medical condition that can accompany this pathology. In this chapter, the most common pathological entities associated with MMC are illustrated, focusing on clinical manifestations, treatment strategies and follow up recommendations.


Asunto(s)
Meningomielocele , Procedimientos Neuroquirúrgicos , Humanos , Meningomielocele/cirugía , Procedimientos Neuroquirúrgicos/métodos
7.
Niger J Clin Pract ; 27(4): 537-540, 2024 Apr 01.
Artículo en Inglés | MEDLINE | ID: mdl-38679779

RESUMEN

ABSTRACT: Tethered cord syndrome is a neurological disorder closely associated with congenital spinal dysraphism. Aberrant dorsal nerve roots may be one of the possible and relatively rare tethering pathologies, especially in the complex form of occult spinal dysraphism such as caudal regression syndrome or split cord malformation. We report an illustrative case of caudal regression syndrome with spinal cord tethering due to a combination of a contiguous bundle of an aberrant dorsal nerve root, and a dorsal-type lipomyelomeningocele, with a thickened filum terminale treated with microneurosurgical untethering.


Asunto(s)
Meningomielocele , Defectos del Tubo Neural , Humanos , Meningomielocele/complicaciones , Meningomielocele/cirugía , Defectos del Tubo Neural/complicaciones , Defectos del Tubo Neural/cirugía , Raíces Nerviosas Espinales/anomalías , Masculino , Imagen por Resonancia Magnética , Femenino , Médula Espinal/anomalías , Cauda Equina/anomalías
9.
Childs Nerv Syst ; 40(6): 1783-1790, 2024 Jun.
Artículo en Inglés | MEDLINE | ID: mdl-38578480

RESUMEN

PURPOSE: Patients and caregivers impacted by myelomeningocele (MMC) use online discussion board forums to create community and share information and concerns about this complex medical condition. We aim to identify the primary concerns expressed on these forums with the goal of understanding gaps in care that may merit investment of resources to improve care received by this population. METHODS: Anonymous posts from online MMC discussion boards were compiled using internet search engines. Posts were then analyzed using an adaptation of the Grounded Theory Method, a three-step system involving open, axial, and selective coding of the data by two independent researchers to identify common themes. RESULTS: Analysis of 400 posts written primarily by parents (n = 342, 85.5%) and patients (n = 45, 11.25%) yielded three overarching themes: questions surrounding quality of life, a lack of support for mothers of children with MMC, and confusion with a complex healthcare system. Many posts revealed concerns about management and well-being with MMC, including posts discussing symptoms and related conditions (n = 299, 75.75%), treatments (n = 259, 65.75%), and emotional aspects of MMC (n = 146, 36.5%). Additionally, families, especially mothers, felt a lack of support in their roles as caregivers. Finally, in 118 posts (29.5%), patients and families expressed frustration with navigating a complex healthcare system and finding specialists whose opinions they trusted. CONCLUSIONS: MMC is a complex medical condition that impacts patients and families in unique ways. Analysis of online discussion board posts identified key themes to be addressed in order to improve the healthcare experiences of those impacted by MMC.


Asunto(s)
Cuidadores , Meningomielocele , Humanos , Meningomielocele/psicología , Cuidadores/psicología , Femenino , Masculino , Calidad de Vida/psicología , Investigación Cualitativa , Padres/psicología , Niño , Adulto , Internet
10.
Fetal Pediatr Pathol ; 43(3): 225-233, 2024.
Artículo en Inglés | MEDLINE | ID: mdl-38634787

RESUMEN

Background: Myelomeningocele or spina bifida is an open neural tube defect that is characterized by protrusion of the meninges and the spinal cord through a deformity in the vertebral arch and spinous process. Myelomeningocele of post-natal tissue is well described; however, pre-natal tissue of this defect has no known previous histologic characterization. We compared the histology of different forms of pre-natal myelomeningocele and post-natal myelomeningocele tissue obtained via prenatal intrauterine and postnatal surgical repairs. Methods: Pre-and post-natal tissues from spina bifida repair surgeries were obtained from lipomyelomeningocele, myeloschisis, and myelomeningocele spina bifida defects. Tissue samples were processed for H&E and immunohistochemical staining (KRT14 and p63) to assess epidermal and dermal development. Results: Prenatal skin near the defect site develops with normal epidermal, dermal, and adnexal structures. Within the grossly cystic specimens, histology shows highly dense fibrous connective tissue with complete absence of a normal epidermal development with a lack of p63 and KRT14 expression. Conclusion: Tissues harvested from prenatal and postnatal spina bifida repair surgeries appear as normal skin near the defect site. However, cystic tissues consist of highly dense fibrous connective tissue with complete absence of normal epidermal development.


Asunto(s)
Inmunohistoquímica , Meningomielocele , Disrafia Espinal , Humanos , Disrafia Espinal/patología , Disrafia Espinal/cirugía , Femenino , Inmunohistoquímica/métodos , Meningomielocele/cirugía , Meningomielocele/patología , Meningomielocele/metabolismo , Embarazo , Recién Nacido
11.
Childs Nerv Syst ; 40(5): 1541-1569, 2024 May.
Artículo en Inglés | MEDLINE | ID: mdl-38459148

RESUMEN

OBJECTIVES: To describe surgical treatment of 3 cases of severe and progressive thoracolumbar kyphosis in myelomeningocele and provide a systematic review of the available literature on the topic. METHODS: Medical records and pre- and post-operative imaging of 3 patients with thoracolumbar kyphosis and myelomeningocele were reviewed. A database search was performed for all manuscripts published on kyphectomy and/or surgical treatment of kyphosis in myelomeningocele. Patients' information, preoperative kyphosis angle, type of surgery, levels of surgery degrees of correction after surgery and at follow-up, and complications were reviewed for the included studies. RESULTS: Three cases underwent posterior vertebral column resection (pVCR) of 2-4 segments at the apex of the kyphosis (kyphectomy). Long instrumentation was performed with all pedicle screws constructed from the thoracic spine to the pelvis using iliac screws. According to literature review, a total of 586 children were treated for vertebral kyphosis related to myelomeningocele. At least one vertebra was excised to gain some degree of correction of the deformity. Different types of instrumentation were used over time and none of them demonstrated to be superior over the other. CONCLUSION: Surgical treatment of progressive kyphosis in myelomeningocele has evolved over the years incorporating all major advances in spinal instrumentation techniques. Certainly, the best results in terms of preservation of correction after surgery and less revision rates were obtained with long construct and screws. However, complication rate remains high with skin problems being the most common complication. The use of low-profile instrumentation remains critical for treatment of these patients.


Asunto(s)
Cifosis , Meningomielocele , Fusión Vertebral , Niño , Humanos , Meningomielocele/cirugía , Resultado del Tratamiento , Fusión Vertebral/métodos , Estudios Retrospectivos , Cifosis/cirugía
12.
Child Care Health Dev ; 50(2): e13246, 2024 03.
Artículo en Inglés | MEDLINE | ID: mdl-38483061

RESUMEN

BACKGROUND: Children with meningomyelocele may require continuous care. Consequently, there is a risk for caregiver burden and impact on family quality of life (QoL), including siblings' QoL. Some studies analysed caregivers' burden and family QoL separately. However, none of these studies evaluated siblings' QoL and the associations between these three dimensions. This study investigated the associations between caregivers' burden, family QoL and siblings' QoL in Brazilian families of children with meningomyelocele and its correlations with sociodemographic, functional and clinical variables. Siblings' QoL was specifically assessed using as a parameter the QoL of typically developed Brazilian children. METHODS: One hundred and fifty families, 150 caregivers and 68 siblings completed the Family Quality of Life Scale, Burden Interview, KIDSCREEN-27 Child and Adolescent Version and Parents Version questionnaires. RESULTS: Most families and caregivers reported a high family QoL and a low caregiver burden. Family QoL was significantly lower as caregivers' burden increased. Caregiver's burden was significantly lower with increasing family QoL levels. Self-reported siblings' QoL was significantly worse than that of typically developed peers. There were no significant differences between self and parent-reported siblings' QoL. Self-reported siblings' QoL was significantly worse as their age increased and better with increasing family QoL levels. Parent-reported siblings' QoL was significantly worse with increasing levels of caregiver's burden and significantly better as family QoL increased. There were no significant associations with functional and clinical variables. CONCLUSIONS: Despite the cross-sectional nature of the available data precludes any statements of causality, our results reinforce the relevance of knowing the factors that influence the QoL of families and siblings of children and adolescents with meningomyelocele and the relevance of actions aimed at reducing caregivers' burden, improving family QoL and meeting siblings' individual needs. Future multicenter studies may validate the generalizability of our findings.


Asunto(s)
Meningomielocele , Calidad de Vida , Niño , Humanos , Adolescente , Hermanos , Estudios Transversales , Cuidadores , Encuestas y Cuestionarios
13.
J Neurosurg Pediatr ; 33(5): 405-410, 2024 May 01.
Artículo en Inglés | MEDLINE | ID: mdl-38428005

RESUMEN

OBJECTIVE: Among patients with a history of prior lipomyelomeningocele repair, an association between increased lumbosacral angle (LSA) and cord retethering has been described. The authors sought to build a predictive algorithm to determine which complex tethered cord patients will develop the symptoms of spinal cord retethering after initial surgical repair with a focus on spinopelvic parameters. METHODS: An electronic medical record database was reviewed to identify patients with complex tethered cord (e.g., lipomyelomeningocele, lipomyeloschisis, myelocystocele) who underwent detethering before 12 months of age between January 1, 2008, and June 30, 2022. Descriptive statistics were used to characterize the patient population. The Caret package in R was used to develop a machine learning model that predicted symptom development by using spinopelvic parameters. RESULTS: A total of 72 patients were identified (28/72 [38.9%] were male). The most commonly observed dysraphism was lipomyelomeningocele (41/72 [56.9%]). The mean ± SD age at index MRI was 2.1 ± 2.2 months, at which time 87.5% of patients (63/72) were asymptomatic. The mean ± SD lumbar lordosis at the time of index MRI was 23.8° ± 11.1°, LSA was 36.5° ± 12.3°, sacral inclination was 30.4° ± 11.3°, and sacral slope was 23.0° ± 10.5°. Overall, 39.6% (25/63) of previously asymptomatic patients developed new symptoms during the mean ± SD follow-up period of 44.9 ± 47.2 months. In the recursive partitioning model, patients whose LSA increased at a rate ≥ 5.84°/year remained asymptomatic, whereas those with slower rates of LSA change experienced neurological decline (sensitivity 77.5%, specificity 84.9%, positive predictive value 88.9%, and negative predictive value 70.9%). CONCLUSIONS: This is the first study to build a machine learning algorithm to predict symptom development of spinal cord retethering after initial surgical repair. The authors found that, after initial surgery, patients who demonstrate a slower rate of LSA change per year may be at risk of developing neurological symptoms.


Asunto(s)
Algoritmos , Aprendizaje Automático , Meningomielocele , Defectos del Tubo Neural , Humanos , Defectos del Tubo Neural/cirugía , Defectos del Tubo Neural/diagnóstico por imagen , Femenino , Masculino , Meningomielocele/cirugía , Meningomielocele/diagnóstico por imagen , Lactante , Estudios Retrospectivos , Procedimientos Neuroquirúrgicos/métodos , Imagen por Resonancia Magnética , Valor Predictivo de las Pruebas
14.
Eur J Med Res ; 29(1): 200, 2024 Mar 25.
Artículo en Inglés | MEDLINE | ID: mdl-38528560

RESUMEN

BACKGROUND: The current convention for treatment of children with myelomeningocele (MMC) is timely surgical intervention combined with long-term follow-up by a multidisciplinary specialized team. This study aims to investigate the outcomes of MMC patients treated at Namazi Hospital. METHODS: All children presenting to Namazi Hospital with myelomeningocele between May 2001 and August 2020 were eligible for this study. For those with a documented telephone number, follow-up phone surveys with the patient's caregivers, on top of the review of the medical documents were carried out to assess mortality, morbidities, and the functional outcome of the care provided to them. RESULTS: A total of 125 patients were studied (62 females). All of the patients were followed up for a mean duration of 6.28 years (range 1-23 years). The majority were located in the lumbosacral area. All of the patients underwent postnatal surgical intervention for MMC in Namazi Hospital. Mean age at surgery was 9.51 days. There were statistically significant differences between urinary and bowel incontinence and presence of scoliosis, MMT grading of the lower limbs, school attendance, number of readmissions, and requirement of laminectomy at the initial surgical intervention. CONCLUSIONS: This study is the first to characterize the long-term outcomes of MMC patients in Iran. This study illustrates that there is a great need for improved access to and coordination of care in antenatal, perioperative, and long-term stages to improve morbidity and mortality.


Asunto(s)
Meningomielocele , Niño , Humanos , Femenino , Embarazo , Recién Nacido , Meningomielocele/cirugía , Estudios de Seguimiento , Irán/epidemiología , Derivación y Consulta , Estudios Retrospectivos
15.
J Neurosurg Pediatr ; 33(6): 554-563, 2024 Jun 01.
Artículo en Inglés | MEDLINE | ID: mdl-38457805

RESUMEN

OBJECTIVE: The need for permanent CSF diversion is lower in patients who have undergone prenatal surgery for myelomeningocele (MMC) than in those who have undergone postnatal closure. Differences in brain development and head growth between treatment groups are not known, particularly for those who do not require surgical treatment for hydrocephalus. The objective of this study was to determine differences in head growth and to generate MMC-specific head circumference (HC) growth curves for patients who underwent either prenatal or postnatal surgery. METHODS: The authors retrospectively identified patients from St. Louis Children's Hospital who were treated for MMC between 2016 and 2021. HC data were obtained from birth until the most recent follow-up or hydrocephalus treatment. Nonlinear least-squares regression analysis was performed to fit the data into four models: two-term power, Gompertz, West ontogenetic, and Weibull. Subsequently, the curves were assessed for their utility in predicting hydrocephalus treatment. RESULTS: Sixty-one patients (29 females [47.5%], 25 [41%] underwent prenatal surgery, mean gestational age at birth 36.6 weeks) were included in the study. The Weibull model best fit the HC data (prenatal adjusted R2 = 0.95, postnatal adjusted R2 = 0.95), while the Gompertz model had the worst fit (prenatal adjusted R2 = 0.56, postnatal adjusted R2 = 0.39) across both cohorts. Prenatal MMC repair patients had significantly larger HC measurements than their postnatal repair counterparts. The 50th percentile of the Weibull curve was determined as a useful threshold for hydrocephalus treatment: children with HC measurements that crossed and remained above this threshold were significantly more likely to have hydrocephalus treatment regardless of time of MMC repair (prenatal relative risk [RR] 10.0 [95% CI 1.424-70.220], sensitivity 85.7% [95% CI 0.499-0.984], and specificity 82.4% [95% CI 0.600-0.948]; postnatal RR 4.750 [95% CI 1.341-16.822], sensitivity 90.5% [95% CI 0.728-0.980], and specificity 75.0% [95% CI 0.471-0.924]). The HC growth curves of the MMC patients treated prenatally were significantly larger than the WHO HC curves (p < 0.001). CONCLUSIONS: The Weibull model was identified as the HC growth curve with the best fit for MMC patients and serves as a useful predictor of hydrocephalus treatment. For MMC patients with hydrocephalus, prenatal repair patients fit the model well but postnatal repair patients did not, potentially indicating different mechanisms of hydrocephalus development. Those treated prenatally had significantly larger HC measurements compared with both the general population and those treated postnatally. Further study is needed to understand the long-term cognitive outcomes and optimal management of clinically asymptomatic patients with large HC measurements who were treated prenatally for MMC.


Asunto(s)
Cabeza , Hidrocefalia , Meningomielocele , Humanos , Meningomielocele/cirugía , Meningomielocele/complicaciones , Femenino , Masculino , Estudios Retrospectivos , Cabeza/cirugía , Recién Nacido , Hidrocefalia/cirugía , Embarazo , Lactante , Edad Gestacional , Cefalometría
16.
J Neurosurg Pediatr ; 33(6): 544-553, 2024 Jun 01.
Artículo en Inglés | MEDLINE | ID: mdl-38457812

RESUMEN

OBJECTIVE: Although hydrocephalus rates have decreased with intrauterine surgery for myelomeningocele (MMC), 40%-85% of children with MMC still go on to develop hydrocephalus. Prenatal ventricle size is known to be associated with later development of hydrocephalus; however, it is not known how prediction measures or timing of hydrocephalus treatment differ between pre- and postnatal surgery for MMC. The goal of this study was to determine anatomical, clinical, and radiological characteristics that are associated with the need for and timing of hydrocephalus treatment in patients with MMC. METHODS: The authors retrospectively identified patients from Barnes Jewish Hospital or St. Louis Children's Hospital between 2016 and 2021 who were diagnosed with MMC prenatally and underwent either pre- or postnatal repair. Imaging, clinical, and demographic data were examined longitudinally between treatment groups and hydrocephalus outcomes. RESULTS: Fifty-eight patients were included (27 females, 46.6%), with a mean gestational age at birth of 36.8 weeks. Twenty-three patients (39.7%) underwent prenatal surgery. For the overall cohort, the ventricle size at prenatal ultrasound (HR 1.175, 95% CI 1.071-1.290), frontal-occipital horn ratio (FOHR) at birth > 0.50 (HR 3.603, 95% CI 1.488-8.720), and mean rate of change in head circumference (HC) in the first 90 days after birth (> 0.10 cm/day: HR 12.973, 95% CI 4.262-39.486) were identified as predictors of hydrocephalus treatment. The factors associated with hydrocephalus in the prenatal cohort were FOHR at birth > 0.50 (HR 27.828, 95% CI 2.980-259.846) and the rate of change in HC (> 0.10 cm/day: HR 39.414, 95% CI 2.035-763.262). The factors associated with hydrocephalus in the postnatal cohort were prenatal ventricle size (HR 1.126, 95% CI 1.017-1.246) and the mean rate of change in HC (> 0.10 cm/day: HR 24.202, 95% CI 5.119-114.431). FOHR (r = -0.499, p = 0.008) and birth HC (-0.409, p = 0.028) were correlated with time to hydrocephalus across both cohorts. For patients who underwent treatment for hydrocephalus, those in the prenatal surgery group were significantly more likely to develop hydrocephalus after 3 months than those treated with postnatal surgery, although the overall rate of hydrocephalus was significantly higher in the postnatal surgery group (p = 0.018). CONCLUSIONS: Clinical and imaging factors associated with hydrocephalus treatment differ between those receiving pre- versus postnatal MMC repair, and while the overall rate of hydrocephalus is lower, those undergoing prenatal repair are more likely to develop hydrocephalus after 3 months of age. This has implications for clinical follow-up timing for patients treated prenatally, who may live at a distance from the treatment site.


Asunto(s)
Hidrocefalia , Meningomielocele , Humanos , Hidrocefalia/cirugía , Hidrocefalia/etiología , Hidrocefalia/diagnóstico por imagen , Meningomielocele/cirugía , Meningomielocele/complicaciones , Meningomielocele/diagnóstico por imagen , Femenino , Masculino , Estudios Retrospectivos , Recién Nacido , Embarazo , Ultrasonografía Prenatal , Edad Gestacional , Resultado del Tratamiento , Lactante
17.
J Reprod Immunol ; 163: 104224, 2024 Jun.
Artículo en Inglés | MEDLINE | ID: mdl-38479055

RESUMEN

INTRODUCTION: Myelomeningocele (MMC) results from incomplete closure of the neural tube, and has a complex multifactorial etiology, including an inflammatory microenvironment. OBJECTIVE: We evaluated the contribution of humoral immune response for development of inflammatory milieu. METHODS: Using public repository Gene Expression Omnibus (GEO), we retrieve dataset transcriptome from the amniotic fluid of ten fetuses with myelomeningocele and ten healthy control fetuses to found differential gene expression associated with disturbances and inflammatory signatures in MMC. The identified DEGs were submitted to enrichment, network, and matrix correlation analyses. RESULTS: Our initial analysis revealed 90 DEGs in MMC, mainly associated with signaling pathways of inflammation, including the immune modules, humoral immune response and IFN-type I signatures. Protein-protein analysis (PPI) revealed an association with three protein networks; positive regulation of B cell proliferation constituted the largest network. Matrix correlation analyses showed that MMC alters the co-expression of genes related to inflammatory processes that promote microenvironment inflammation. CONCLUSION: These results revealed an altered humoral immune response in MMC patients, contributing to an inflammatory profile and providing opportunities for identifying potential biomarkers in myelomeningocele disease.


Asunto(s)
Inmunidad Humoral , Meningomielocele , Transcriptoma , Humanos , Meningomielocele/inmunología , Meningomielocele/genética , Inmunidad Humoral/genética , Transcriptoma/inmunología , Femenino , Perfilación de la Expresión Génica , Embarazo , Mapas de Interacción de Proteínas/inmunología , Transducción de Señal/inmunología , Transducción de Señal/genética , Inflamación/inmunología , Inflamación/genética , Biomarcadores/metabolismo , Redes Reguladoras de Genes/inmunología
18.
Clin Neurol Neurosurg ; 239: 108214, 2024 04.
Artículo en Inglés | MEDLINE | ID: mdl-38503112

RESUMEN

BACKGROUND AND PURPOSE: Spina bifida is the second major cause of congenital disorders and the most common central nervous system congenital malformation compatible with life primarily. Herein, we describe the short-term outcome of post-natal Myelomeningocele (MMC) surgical management and predictors of its postoperative complications and mortality. METHODS: This retrospective chart review studies the children who underwent post-natal surgical management for MMC in Namazi hospital, a tertiary referral center, in southern Iran from May 2001 to September 2020. RESULTS: 248 patients were included in this study. The mean age at the operation was 8.47 ± 8.69 days. The most common site of involvement of MMC was Lumbosacral (86%, n = 204). At the evaluation conducted prior to the operation, cerebrospinal fluid leak was observed in 7% (n=16) of the patients. Postoperatively, 5.7% of the patients expired in the 30-day follow-up after the operation (n = 14), while 24% needed readmission (n = 47). The most common complications leading to readmission were wound dehiscence (n = 10, 42%) and wound purulence (n = 6, 25%). Only the site of the lesion (p-value = 0.035) was associated with postoperative complication. After controlling for potential confounders, the site of the lesion (adjusted odds ratio = 0.146, 95% confidence interval = 0.035-0.610, p-value = 0.008) and age at surgery (adjusted odds ratio = 1.048, 95% confidence interval = 1.002-1.096, p-value = 0.041) were significantly associated with mortality CONCLUSIONS: The age of the patients at the surgery and the site of the lesion are the two factors that were associated with mortality. However, further investigations into preoperative interventions and risk factors to mitigate the risk of complications and mortality are highly encouraged.


Asunto(s)
Hidrocefalia , Meningomielocele , Niño , Humanos , Recién Nacido , Meningomielocele/cirugía , Meningomielocele/complicaciones , Estudios Retrospectivos , Hidrocefalia/cirugía , Complicaciones Posoperatorias/epidemiología , Resultado del Tratamiento
19.
Braz J Anesthesiol ; 74(3): 844495, 2024.
Artículo en Inglés | MEDLINE | ID: mdl-38521500

RESUMEN

BACKGROUND: Myelomeningocele (MMC) is a neural tube defect disease. Antenatal repair of fetal MMC is an alternative to postnatal repair. Many agents can be used as tocolytics during the in utero fetal repair such as ß2-agonists and oxytocin receptor antagonists, with possible maternal and fetal repercussions. This study aims to compare maternal arterial blood gas analysis between terbutaline or atosiban, as tocolytic agents, during intrauterine MMC repair. METHODS: Retrospective cohort study. Patients were divided into two groups depending on the main tocolytic agent used during intrauterine MMC repair: atosiban (16) or terbutaline (9). Maternal arterial blood gas samples were analyzed on three moments: post induction (baseline, before the start of tocolysis), before extubation, and two hours after the end of the surgery. RESULTS: Twenty-five patients were included and assessed. Before extubation, the terbutaline group showed lower arterial pH (7.347 ± 0.05 vs. 7.396 ± 0.02 for atosiban, p = 0.006) and higher arterial lactate (28.33 ± 12.76 mg.dL-1 vs. 13.06 ± 6.35 mg.dL-1, for atosiban, p = 0.001) levels. CONCLUSIONS: Patients who received terbutaline had more acidosis and higher levels of lactate, compared to those who received atosiban, during intrauterine fetal MMC repair.


Asunto(s)
Meningomielocele , Terbutalina , Tocolíticos , Vasotocina , Humanos , Estudios Retrospectivos , Terbutalina/uso terapéutico , Terbutalina/administración & dosificación , Femenino , Meningomielocele/cirugía , Adulto , Tocolíticos/administración & dosificación , Embarazo , Vasotocina/análogos & derivados , Vasotocina/uso terapéutico , Estudios de Cohortes , Análisis de los Gases de la Sangre
20.
Childs Nerv Syst ; 40(5): 1571-1575, 2024 May.
Artículo en Inglés | MEDLINE | ID: mdl-38514517

RESUMEN

The intrauterine repair of myelomeningocele presents certain advantages and has gained widespread acceptance. It significantly reduces the incidence of Chiari-2 anomalies and hydrocephalus, and it is thought to enhance the neurologic outcome. Nevertheless, several issues remain unsettled and there are no negligible disadvantages. After working with patients with myelomeningocele for 30 years, I thought about how we currently treat them. There are ethical, organizational, neurological, obstetrical, and postnatal aspects worth discussing.


Asunto(s)
Malformación de Arnold-Chiari , Hidrocefalia , Meningomielocele , Humanos , Meningomielocele/cirugía , Malformación de Arnold-Chiari/complicaciones , Hidrocefalia/cirugía , Incidencia
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