1,827 results match your criteria: "Spinal Dysraphism Myelomeningocele"

Article Synopsis
  • * Diagnosis of these conditions often occurs via detailed fetal morphologic and genetic assessments to confirm the condition and check for other anomalies, particularly in Europe where 93.5% of cases are identified.
  • * A proposed standardized ultrasound protocol aims to improve prenatal assessments for fetuses with isolated open dysraphism, allowing for better prognostic information, management options, and comparisons of surgical outcomes.
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Article Synopsis
  • High prevalence of sleep-disordered breathing (SDB) is found in children with spina bifida, but routine testing guidelines for this in neonates are lacking.
  • A study at the University Hospital Zurich evaluated respiratory polygraphy testing in neonates with spina bifida to determine if it was necessary and what treatment might follow.
  • Results showed that a significant portion of neonates had SDB, leading to caffeine therapy, with follow-up tests indicating substantial improvement, suggesting that routine RPG testing should be adopted for early intervention.
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Thoracolumbar myelocele repair: how I do it.

Acta Neurochir (Wien)

June 2024

Department of Neurosurgery, University Hospital of Lausanne, Lausanne, Vaud, Switzerland.

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.

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Article Synopsis
  • Congenital myelomeningocele, or spina bifida, is the most common birth defect affecting the central nervous system, impacting neonatal survival and long-term quality of life in children.
  • A study conducted at Zewditu Memorial Hospital in Ethiopia assessed the health-related quality of life (HRQoL) in 232 children with spina bifida using a standardized questionnaire from June to September 2022.
  • Results showed a median age of 5 years, with overall HRQoL scores indicating challenges in school participation, while factors like family income and neurogenic bladder significantly influenced quality of life outcomes.
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  • Wilms tumor (WT), typically rare in adults, forms just 3% of cases, with extrarenal Wilms tumor (ERWT) being even more uncommon, constituting 0.5-1% of WT cases; this document discusses a unique adult case of ERWT found in the spinal canal.
  • A 22-year-old woman experienced back pain that progressed to limb weakness and loss of bladder and bowel control, ultimately diagnosed through MRI and confirmed upon surgical removal of a spinal tumor.
  • The report highlights the rarity of ERWT in adults, suggesting a need for greater clinical awareness about atypical presentations, especially in patients with a history of spinal anomalies.
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Article Synopsis
  • The study investigates the effectiveness of urinalysis (UA) in diagnosing urinary tract infections (UTIs) in children with spina bifida, who are often overdiagnosed with UTIs.
  • Researchers analyzed data from 974 visits of 319 children from 2016 to 2021, finding that pyuria had the highest sensitivity, while nitrites were the most specific for diagnosing symptomatic UTIs.
  • Overall, the findings indicate that UA parameters have moderate sensitivity or specificity but show poor overall accuracy in diagnosing symptomatic UTIs in this population.
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Spina bifida includes a spectrum of different neural tube defects. Myelomeningocele is the most serious type and is associated with a risk of paralysis and sensory dysfunction below the affected level, bladder/bowel dysfunction, brain dysmorphology, and impaired health-related quality of life (HRQoL). The aim of this study was to describe the establishment of linguistic, content and face validity of the Swedish version of a Quality-of-Life Assessment for children (QUALAS-C, = 10 items), teenagers (QUALAS-T, = 10 items) and adults with spina bifida (QUALAS-A, = 15 items) based on the original US English versions.

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Enhanced recovery after fetal spina bifida surgery: global practice.

Ultrasound Obstet Gynecol

November 2024

Department of Obstetrics and Gynaecology, Division of Maternal-Fetal Medicine, Mount Sinai Hospital and University of Toronto, Toronto, ON, Canada.

Objectives: Enhanced recovery after surgery (ERAS) protocols are multimodal evidence-based care plans that have been adopted for multiple surgical procedures to promote faster and better patient recovery and shorter hospitalization. This study aimed to explore whether worldwide fetal therapy centers offering prenatal myelomeningocele repair implement the ERAS principles and to provide recommendations for improved perioperative management of patients.

Methods: In this survey study, a total of 53 fetal therapy centers offering prenatal surgery for open spina bifida were identified and invited to complete a digital questionnaire covering their pre-, intra- and postoperative management.

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Purpose: We sought to assess associations between health-related quality of life (QOL), bladder-related QOL, bladder symptoms, and bladder catheterization route among adolescents and young adults with spina bifida.

Materials And Methods: Clinical questionnaires administered to individuals ≥ 12 years old requiring catheterization between June 2019 to March 2020 in a spina bifida center were retrospectively analyzed. Questionnaires were completed in English or Spanish independently or with caregiver assistance.

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Article Synopsis
  • Meningomyelocele is a serious neural tube defect and the most common structural birth defect affecting the central nervous system.
  • The Spina Bifida Sequencing Consortium found that deletions on chromosome 22q11.2 increase the risk of meningomyelocele by 23 times compared to the general population.
  • Research indicates that the deletion of specific genes in this region, combined with a lack of maternal folate, can significantly increase the risk of neural tube defects in offspring.
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Article Synopsis
  • - Tethered cord syndrome is a neurological disorder linked to congenital spinal issues, particularly in complex cases like caudal regression syndrome and split cord malformation.
  • - The condition can involve rare complications, such as abnormal dorsal nerve roots that tether the spinal cord.
  • - This case study discusses a patient with caudal regression syndrome who had spinal cord tethering due to a combination of an abnormal nerve root and a specific type of spinal defect, treated successfully with microneurosurgical untethering.
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Article Synopsis
  • This study investigates neurodevelopmental outcomes and seizure onset in early childhood for patients with myelomeningocele and periventricular nodular heterotopia.
  • Out of 497 patients analyzed, only a portion had confirmed PVNH, but its presence was not linked to higher risk of seizures or significant differences in neurodevelopmental scores.
  • The findings suggest that PVNH does not correlate with neurodevelopmental delays at one year old, prompting a need for long-term follow-up to better understand its effects.
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Article Synopsis
  • A study aimed to compare respiratory outcomes in infants with spina bifida who had prenatal versus postnatal surgical repair, hypothesizing no significant differences between the two groups.
  • The research involved 46 infants at Children's Hospital Los Angeles from 2004-2022, analyzing factors like closure timing, Chiari II malformation, and polysomnography results.
  • Findings revealed no significant differences in sleep-disordered breathing metrics or the need for supplemental oxygen between the two groups, indicating persistent respiratory challenges regardless of repair timing.
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Article Synopsis
  • * Researchers examined and compared tissue from both pre-natal and post-natal surgical repairs for different spina bifida variations, focusing on epidermal and dermal development through specific staining techniques.
  • * The study found that while skin near the defect develops normally, cystic tissues show dense fibrous connective tissue and a complete lack of normal epidermal structures, indicated by missing p63 and KRT14 expressions.
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Barriers to Transitional Care in Spina Bifida.

Urol Clin North Am

May 2024

Division of Urology, Children's Hospital Colorado, 13123 East 16th Avenue, Box 323, Aurora, CO 80045, USA. Electronic address:

Article Synopsis
  • Children with spina bifida have evolving health care needs that require ongoing support from specialized, multidisciplinary medical teams throughout their lives.
  • Despite significant research on enhancing the transition to adult care starting from a young age, there are still major obstacles that hinder successful transitions.
  • This article highlights important elements of spina bifida care, the consequences of poor transitions to adult care, existing barriers, and suggests a potential way forward for improving the process.
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Article Synopsis
  • The study explored genetic factors linked to spina bifida, a severe birth defect, by analyzing DNA samples from families in Bangladesh between 2016 and 2022.
  • Researchers identified three new genetic variants associated with spina bifida through advanced genetic analysis, even though they didn't find any widespread significant variants between cases and controls.
  • The findings suggest these novel genetic markers could provide insights into prevention strategies, but further research with larger sample sizes is necessary to confirm the results.
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Reflections upon the intrauterine repair of myelomeningocele.

Childs Nerv Syst

May 2024

Dep. of Neurosurgery, ASST Niguarda, Piazza Ospedale Maggiore 3, 20162, Milan, Italy.

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.

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Purpose: To analyze the relationship between spinal cord and vertebral abnormalities from the point of view of embryology.

Methods: We analyzed the clinical and radiological data of 260 children with different types of spinal cord malformations in combination with vertebral abnormalities.

Results: Among 260 individuals, approximately 109 presented with open neural tube defects (ONTDs), 83 with split cord malformations (SCMs), and 83 with different types of spinal lipomas.

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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.

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Purpose: To investigate cognitive functioning and emotional distress in adults aged 55 to 68 years old with spina bifida myelomeningocele (SBM), both with and without hydrocephalus. A secondary aim was to explore the associations between psychosocial factors in relation to emotional distress.

Materials And Methods: Cross-sectional study of eleven females and eight males with SBM, five with and twelve without hydrocephalus.

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Introduction: Children and adolescents with neurogenic bladder often need clean intermittent catheterization (CIC) over a long period. Our study aimed to identify factors that affect CIC compliance and to determine if CIC compliance affected short-term urological outcomes among patients in Malaysia.

Study Design: 50 patients aged 2-18 years who perform CIC were included in this cohort study.

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Introduction: The Macedo ileal catheterizable channel was published in 2000 and consists of an enterocystoplasty with a catheterizable channel that precludes the need of the appendix for the efferent channel. After 25 years of experience with this technique, we decided to review our experience in a select subgroup of cases performed and followed exclusively by the author in a non-teaching hospital facility after the latest modifications of the procedure.

Materials And Methods: Since 2008, we have refined our technique with the following modifications: small skin transverse incision instead of longitudinal one, with a semicircular flap for further stoma creation in the midline and importantly the scissors maneuver.

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Introduction: For open fetal spina bifida (fSB) repair, a maternal laparotomy is required. Hence, enhanced maternal recovery after surgery (ERAS) is paramount. A revision of our ERAS protocol was made, including changes in operative techniques and postoperative pain management.

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High-fidelity, low-cost synthetic training model for fetoscopic spina bifida repair.

Am J Obstet Gynecol MFM

March 2024

Department of Obstetrics and Gynecology, University Hospitals Leuven, Leuven, Belgium (Mr Ahmad and Drs Watananirun, De Bie, Page, Vergote, Vercauteren, Joyeux, and Deprest); Department of Development and Regeneration, Cluster Woman and Child, Group Biomedical Sciences, KU Leuven, Leuven, Belgium (Mr Ahmad and Drs, Watananirun, De Bie, Page, Vergote, Vercauteren, Joyeux, and Deprest); Institute for Child and Women's Health, University College London, London, United Kingdom (Drs De Coppi and Deprest). Electronic address:

Background: Fetoscopic spina bifida repair is increasingly being practiced, but limited skill acquisition poses a barrier to widespread adoption. Extensive training in relevant models, including both ex vivo and in vivo models may help. To address this, a synthetic training model that is affordable, realistic, and that allows skill analysis would be useful.

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