Results 81 to 90 of about 48,047 (250)

Robotic surgery for paediatric neurogenic lower urinary tract dysfunction: a systematic review

BJU International, Volume 135, Issue 4, Page 557-566, April 2025.
Objective To evaluate in a systematic review the outcomes, benefits, and limitations of robot‐assisted surgeries for paediatric neurogenic lower urinary tract dysfunction (LUTD), as robot‐assisted techniques have emerged as a potential alternative, offering enhanced precision, dexterity, and visualisation.
Ihtisham Ahmad, Dheidan Alshammari, Priyank Yadav, Michael Chua, Margarita Chancy, Mohd S. Ansari, Mohan S. Gundeti   +6 more
wiley   +1 more source

Epidemiology and morbidity of spina bifida in Hispanic Americans: a systematic review

BMJ Public Health
Objective To comprehensively describe the epidemiology and morbidity of spina bifida in Hispanic Americans and identify risk factors associated with the increased prevalence of spina bifida.Design A systematic review was conducted in accordance with ...
Roxanna M Garcia, Sandi K Lam, Sunny Abdelmageed, Megan Votoupal   +3 more
doaj   +1 more source

Neural tube defects

Curationis, 1981
Neural tube defects refer to any defect in the morphogenesis of the neural tube, the most common types being spina bifida and anencephaly. Spina bifida has been recognised in skeletons found in north-eastern Morocco and estimated to have an age of almost
M.E. Marshall
doaj   +1 more source

Women’s health guidelines for the care of people with spina bifida

Journal of Pediatric Rehabilitation Medicine, 2020
Women and girls with spina bifida have specific health care concerns. It is essential that they, and their health care providers have access to information to help them make healthy choices throughout their lifespan.
Anne Berndl, Margaret Nosek, Ashley Waddington   +2 more
doaj   +1 more source

Neurourological complications in patients with myelodisplasia [PDF]

, 2014
Spina bifida is a frequently seen congenital anomaly which is compatible with life. During the embryological period the defects in the closure of neural tube leads to open or closed spinal dysraphism.
Cüneyt Göçmez, Mansur Dağgülli, Sümeyye Çoruh Kaplan   +2 more
core   +1 more source

Biallelic MYH3 Variants Cause Distal Arthrogryposis in Compound Heterozygosity and a Subclinical Phenotype in Simple Heterozygosity. Codominance or Recessive Inheritance?

Clinical Genetics, EarlyView.
A nuclear family affected by distal arthrogryposis with novel biallelic MYH3 variants, which at the heterozygous state yield a subclinical phenotype, highlighting the complexity of MYH3‐related disorders and their inheritance modes. ABSTRACT Distal arthrogryposis constitutes a highly heterogeneous group of disorders with a critical need for clear ...
Omar Zgheib, Thomas Rio‐Frio, Michel Guipponi, Thierry Nouspikel, Siv Fokstuen, Marc Abramowicz, Philippe Khau Van Kien   +6 more
wiley   +1 more source

Emergency department utilization among pediatric spina bifida patients

Journal of Pediatric Rehabilitation Medicine, 2019
PURPOSE: There is a gap in knowledge regarding the use of emergency services by pediatric spina bifida patients. The goal of this study was to describe Emergency Department utilization patterns in this population.
Stefanie Riddle, Jareen Meinzen-Derr, Meredith Tabangin, Jason Woodward, Susan Wiley   +4 more
doaj   +1 more source

Key Modules and Hub Genes Identified by Coexpression Network Analysis for Revealing Novel Biomarkers for Spina Bifida

Frontiers in Genetics, 2020
Spina bifida is a common neural tube defect (NTD) accounting for 5–10% of perinatal mortalities. As a polygenic disease, spina bifida is caused by a combination of genetic and environmental factors, for which the precise molecular pathogenesis is still ...
Zijian Li, Zijian Li, Juan Feng, Zhengwei Yuan   +3 more
doaj   +1 more source

Functional Data Strengthen Clinical Validation of PhenoScore Phenotype‐Guided AI for ANKRD11 Missense Variants

Clinical Genetics, EarlyView.
PhenoScore, an AI framework integrating facial recognition and clinical phenotype data, accurately identifies pathogenic ANKRD11 missense variants associated with KBG syndrome (AUC 0.95). Validated against functional data, PhenoScore outperforms REVEL and complements AlphaMissense, providing objective phenotypic evidence to reduce variants of uncertain
Evi Andriessen, Elke de Boer, Gholson J. Lyon, Bert B. A. de Vries, Charlotte W. Ockeloen, Alexander J. M. Dingemans   +5 more
wiley   +1 more source

Diagnostic accuracy of intracranial translucency in detecting spina bifida: a systematic review and meta-analysis [PDF]

, 2016
OBJECTIVE: To evaluate the diagnostic accuracy of intracranial translucency (IT) in the detection of spina bifida (SB) in the first trimester of pregnancy.
Berghella, Vincenzo, D'Antonio, Francesco, Giudicepietro, Antonia, Martinelli, Pasquale, Maruotti, GIUSEPPE MARIA, Morlando, Maddalena, Saccone, Gabriele, Sarno, Laura   +7 more
core   +1 more source