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Genetic Markers of Spina Bifida in an Indian Cohort.
J Indian Assoc Pediatr Surg
September 2024
Department of Paediatric Surgery, All India Institute of Medical Sciences, New Delhi, India.
Article Synopsis
- The study aimed to identify genetic markers associated with spina bifida in Indian patients by conducting whole-exome sequencing on three different cases.
- The analysis revealed multiple pathogenic variants linked to spina bifida, including MTRR, CC2D2A, and ZIC2, while novel markers common to all patients were also identified.
- Results indicate that the genetic landscape of spina bifida in Indians shows notable diversity compared to studies from other regions, contributing to a new catalog of variants relevant to the condition.
Meningomyelocele Perioperative Management in Neonatal: Case Series.
Children (Basel)
October 2024
Department of Child Health, Faculty of Medicine, Universitas Padjajaran, Dr. Hasan Sadikin General Hospital, Bandung 40161, Indonesia.
Background: Myelomeningocele (MMC) is a congenital malformation affecting the central nervous system, categorized as a neural tube defect (NTDs). In untreated cases, the mortality rate within the first six months of life ranges from 35% to 70%. Globally, its incidence is estimated 0.
View Article and Find Full Text PDFMaternal Minocycline as Fetal Therapy in a Rat Model of Myelomeningocele.
J Surg Res
September 2024
Division of General Pediatric Surgery, Department of Surgery, Johns Hopkins School of Medicine, Baltimore, Maryland. Electronic address:
Article Synopsis
- This study explored the effects of the antibiotic minocycline on reducing inflammation and cell death in fetal rats with myelomeningocele (MMC) when administered to pregnant rats.
- Pregnant rats were treated with different substances to induce MMC in their fetuses, and then some mothers received minocycline, with their offspring's spinal cords analyzed for inflammation and cell death markers.
- The results suggested that minocycline exposure led to lower levels of inflammation and cell death markers in the fetal spinal cords, indicating its potential as a prenatal treatment for spinal cord issues associated with MMC.
Walking recovery after tethered cord release.
Neurosurg Rev
June 2024
Neurosurgery Department, Faculty of Medicine, Ain Shams University, Cairo, Egypt.
After myelomeningocele (MMC) repair, a secondary tethered spinal cord occurs in almost all patients. The tethered spinal cord may result in progressive neurological deterioration and walking disability. This retrospective cohort study aimed to highlight the walking recovery one year after tethered cord release and its relation to the preoperative conus level.
View Article and Find Full Text PDF2- to 20-year myelomeningocele follow-up outcomes from a referral center in Southern Iran: the Shiraz experience.
Eur J Med Res
March 2024
Shiraz Neuroscience Research Center, Shiraz University of Medical Sciences, Shiraz, Iran.
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.
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