The health care needs of children with spina bifida are complex. They need specialists, generalists, and an integrated system to deliver this complex care and to align and inform all the providers. Most research in spina bifida has been focused on narrow medical outcomes; it has been noncollaborative, based on small samples of convenience, with no comparison groups, and without consistent standards of measurement. Models of health, like the World Health Organization International Classification of Functioning, Disability, and Health Model can help to broaden the scope of future research. Using methods from other pediatric conditions like the patient registry (cystic fibrosis), gene bank (autism), and collaborative research (leukemia), researchers can improve the quality of future studies. Research questions related to the process of care and to specific nonsurgical conditions associated with spina bifida are reviewed in this article.
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http://dx.doi.org/10.1002/ddrr.91 | DOI Listing |
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 PDFSurg 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 PDFSurg 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 PDFPLoS 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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