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| http://dx.doi.org/10.11604/pamj.2022.42.258.35894 | DOI Listing |
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Molecular insights into myelomeningocele via proteomic analysis of amniotic fluid.
J Proteomics
January 2025
Necker Proteomics, Université Paris Cité - Structure Fédérative de Recherche Necker, INSERM US24/CNRS UAR3633, Paris, France.
Despite numerous studies on fetal therapy for myelomeningoceles (MMC), the pathophysiology of this malformation remains poorly understood. This study aimed to analyze the biochemical profile and proteome of amniotic fluid (AF) supernatants from MMC fetuses to explore the prenatal pathophysiology. Biochemical analysis of 61 AF samples from MMC fetuses was compared with 45 healthy fetuses' samples.
View Article and Find Full Text PDFNeurosurgical strategy based on the type of occult spinal dysraphism in omphalocele-exstrophy-imperforate anus-spinal defects complex: A review of 10 cases.
Surg Neurol Int
December 2024
Department of Neurosurgery, Graduate School of Medical Sciences, Kyushu University, Iizuka, Japan.
Background: Omphalocele-exstrophy-imperforate anus-spinal defects (OEIS) complex is a rare, life-threatening congenital malformation primarily treated with abdominogenital repair. The optimal indication and timing of neurosurgical interventions for the associated spinal cord lesions remains insufficiently studied. We reviewed spinal dysraphism in OEIS to evaluate the best timing for neurosurgical intervention.
View Article and Find Full Text PDFVestigial human tail and occult spinal dysraphism: A case report.
Surg Neurol Int
December 2024
Department of Medicine, Fatima Memorial College of Medicine and Dentistry (FMHCMD), Lahore, Pakistan.
Background: The presence of a human tail is a rare condition resulting from an embryonic remnant that fits the definition of a caudal appendage. It may be a vestigial (true) or a pseudotail. Both may be considered markers of underlying intraspinal abnormalities.
View Article and Find Full Text PDFBayesian polygenic risk estimation approach to nuclear families with discordant sib-pairs for myelomeningocele.
PLoS One
January 2025
Department of Genetics, National Institute of Medical Sciences and Nutrition Salvador Zubirán (INCMNSZ), Mexico City, Mexico.
Myelomeningocele (MMC) is the most severe and disabling form of spina bifida with chronic health multisystem complications and social and economic family and health systems burden. In the present study, we aimed to investigate the genetic risk estimate for MMC in a cohort of 203 Mexican nuclear families with discordant siblings for the defect. Utilizing a custom Illumina array, we analyzed 656 single nucleotide polymorphisms (SNPs) of 395 candidate genes to identify a polygenic risk profile for MMC.
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