Results 121 to 130 of about 87,442 (288)
Biallelic COL4A2 Variants Associated With Brain Small Vessel Disease and Brain Malformations
Clinical Genetics, EarlyView.Biallelic COL4A2 variants cause a spectrum of brain abnormalities such as brain small vessel disease (BSVD). We describe two cases—one with cerebrovascular disruption and one with cortical malformations—expanding the recessive phenotype. Protein modeling reveals destabilization by p.(Arg179Cys), reinforcing its pathogenic role and highlighting collagen
Anees Muhammad +11 more
wiley +1 more source
African Journal of Paediatric SurgeryBackground: Spina bifida is a congenital malformation involving an open vertebral column resulting from failure in neural tube closure. It is among the most frequently occurring birth defects, observed in 1-3 cases per 1,000 live births worldwide ...
Rohan Giridhar Vashisht +2 more
doaj +1 more source
Valproic acid disrupts the biomechanics of late spinal neural tube closure in mouse embryos [PDF]
, 2017 Failure of neural tube closure in the early embryo causes neural tube defects including spina bifida. Spina bifida lesions predominate in the distal spine, particularly after exposure to the anticonvulsant valproic acid (VPA).
Copp, AJ +3 more
core
Surgeries and Health Outcomes Among Patients With Spina Bifida
Pediatrics, 2018 In this study, we use data from the NSBPR to describe the age distribution of surgical procedures and health outcomes among patients with SB. BACKGROUND AND OBJECTIVES: Patients with spina bifida (SB) typically develop serious secondary conditions and ...
Noreen B Alabi +6 more
semanticscholar +1 more source
Developmental Medicine &Child Neurology, EarlyView.The incidence of developmental disorders and special educational needs (SEN) provision were investigated, and associations with gestational age and ethnicity were explored, using the Born in Bradford cohort. Birth before full term was associated with increased odds of developmental disorder and/or SEN, which was even demonstrated in early term (37–38 ...
Katherine Pettinger +4 more
wiley +1 more source
American Journal of Perinatology Reports, 2016 Objectives The objective of our study was to test the hypothesis that in utero repair of surgically created spina bifida in a sheep model using cryopreserved human umbilical cord (HUC) patch improves neurological outcome.
Ramesha Papanna +8 more
doaj +1 more source
Six‐minute walk test reference values in ambulatory children with myelomeningocele
Developmental Medicine &Child Neurology, EarlyView.Plain language summary: https://onlinelibrary.wiley.com/doi/10.1111/dmcn.16447 Abstract Aim To determine the baseline pediatric reference values of the 6‐minute walk test (6MWT) distance (6MWD) across spina bifida functional lesion levels, the associations between the 6MWD and the distances of the 1‐minute and 2‐minute walk tests, and assess the impact
Karina A. Zapata +5 more
wiley +1 more source
Discover PsychologyQuestion-order effects can considerably bias responses in surveys. Yet, question order is largely neglected in survey design. Most scales use one fixed sequence and do not consider how different sequences might affect the measure.
Tobias Tempel, Lisa Schneider
doaj +1 more source
A Japanese man with spina bifida who successfully fathered a child following fertility treatment
IJU Case Reports, 2020 Introduction Spina bifida is a congenital anomaly caused by a neural tube closure defect that may result in sexual dysfunction. Sexual dysfunction and infertility are prevalent in spina bifida patients but have been scarcely reported.
Daisuke Gotoh +8 more
doaj +1 more source