Publications by authors named "H El-Said"
Developmental and epileptic encephalopathies (DEEs) feature altered brain development, developmental delay and seizures, with seizures exacerbating developmental delay. Here we identify a cohort with biallelic variants in DENND5A, encoding a membrane trafficking protein, and develop animal models with phenotypes like the human syndrome. We demonstrate that DENND5A interacts with Pals1/MUPP1, components of the Crumbs apical polarity complex required for symmetrical division of neural progenitor cells.
View Article and Find Full Text PDFBackground: Patent ductus arteriosus stenting (PDAS) is a nonsurgical alternative to Blalock-Taussig-Thomas shunt (BTTS) for infants with ductal-dependent congenital heart disease. In this single-center study, we aimed to compare neurodevelopmental outcomes in children who underwent BTTS as initial palliation versus PDAS.
Methods: Bayley Scales of Infant and Toddler Development Screening Test (Bayley-III) reports and mode of feeding data were collected for any patient who underwent PDAS or BTTS at Rady Children's Hospital from 2013 to 2021.
Erratum: Stenting of the Patent Ductus Arteriosus: A Meta-analysis and Literature Review.
J Soc Cardiovasc Angiogr Interv
July 2023
Article Synopsis
- The text indicates that it is providing corrections to two specific articles related to the Journal of Scientific Computing and Artificial Intelligence.
- The first correction pertains to an article with the DOI 10.1016/j.jscai.2022.100392, addressing potential inaccuracies in that publication.
- The second correction is for an article with the DOI 10.1016/j.jscai.2023.101051, which also requires revisions or clarifications in its findings or content.
Impact of Stenting on PDA Length, Curvature, and Pulsatile Deformations Based on CT Assessment.
J Soc Cardiovasc Angiogr Interv
September 2023
Article Synopsis
- The study investigated how stenting affects the length, shape, and movement of the patent ductus arteriosus (PDA) in patients reliant on this vessel for blood flow to the lungs.
- Involved 12 patients with congenital heart issues, revealing significant shortening (26%) and straightening of the PDA after stenting, with notable reductions in curvature.
- Findings emphasize the importance of precise stent sizing to avoid complications and offer insights for better device design for congenital heart patients, especially in neonates.
Transcatheter pulmonary valve replacement after arterial switch operation.
Catheter Cardiovasc Interv
September 2024
Article Synopsis
- Patients with d-transposition of the great arteries (d-TGA) who have had an arterial switch operation (ASO) may experience right ventricular outflow tract (RVOT) issues, leading to the consideration of transcatheter pulmonary valve replacement (TPVR) as a treatment option.
- A study involving 33 patients showed a 66% success rate for TPVR, with most patients receiving either a Melody or SAPIEN valve, while some conditions like coronary compression prevented the procedure for a subset of patients.
- Post-TPVR, there was a significant reduction in RVOT gradient and a majority of patients reported minimal or no pulmonary regurgitation; however, a higher rate of reinterventions was noted in this