Results 91 to 100 of about 48,500 (236)

Neural tube defects

open access: yesCurationis, 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

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

open access: yesClinical 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   +6 more
wiley   +1 more source

Emergency department utilization among pediatric spina bifida patients

open access: yesJournal 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   +4 more
doaj   +1 more source

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

open access: yesClinical 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   +5 more
wiley   +1 more source

Marjolin's ulcers: theories, prognostic factors and their peculiarities in spina bifida patients [PDF]

open access: yes, 2010
Background Due to improved care, more and more children born with spina bifida in rural Kenya are surviving into adulthood. This improved survival has led to significant challenges in their lifestyles, especially the need to ensure pressure ulcer ...
Peter M Nthumba
core   +1 more source

Biocultural Approaches in the Society for the Anthropology of Food and Nutrition: A Reflection on 50 Years

open access: yesCulture, Agriculture, Food and Environment, EarlyView.
ABSTRACT On the occasion of SAFN's 50th anniversary I reflect on the development of biocultural and human evolutionary approaches to human diet and nutrition. I maintain that SAFN and its predecessors the Committee (1974–1987) and then Council on Nutritional Anthropology (1987–2004) have modeled, fostered, and advanced biocultural work in anthropology ...
Andrea S. Wiley
wiley   +1 more source

A Transforaminal Endoscopic Surgical Technique for Treating Lumbar Disc Herniation in the Setting of Spina Bifida

open access: yesCase Reports in Neurological Medicine, 2020
Recent literature suggests that adult patients with spina bifida receive surgery for degenerative disc disease at higher rates than the general population.
Albert E. Telfeian   +5 more
doaj   +1 more source

Geographic clusters of congenital anomalies in Argentina [PDF]

open access: yes, 2016
Geographical clusters are defined as the occurrence of an unusual number of cases higher than expected in a given geographical area in a certain period of time.
Barbero, Pablo   +7 more
core   +1 more source

Prevalence of spina bifida across the lifespan in the USA

open access: yesDevelopmental Medicine &Child Neurology, EarlyView.
Abstract Aim To estimate the prevalence of spina bifida across the lifespan, the number of people with spina bifida by state, and variations in spina bifida prevalence by insurance type, state, and selected demographics. Method This was an observational study that used administrative insurance data.
Julie Bershadsky   +7 more
wiley   +1 more source

Collaborative practice to support community‐based physical activity for young people with childhood‐onset physical disability: A scoping review

open access: yesDevelopmental Medicine &Child Neurology, EarlyView.
This scoping review highlights that collaboration between healthcare and physical activity providers to support community physical activity participation for young people with childhood‐onset physical disability is limited. Collaboration strategies to support community physical activity lack sufficient detail for replication.
Karen Brady   +5 more
wiley   +1 more source

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