Results 51 to 60 of about 14,396 (179)

Two Novel ACTC1 Variants Cause Arthrogryposis Multiplex Congenita

open access: yesClinical Genetics, EarlyView.
We report on two individuals with arthrogryposis multiplex congenita who were heterozygous for ACTC1 missense variants (NM_005159.5; c.325G>A, p.Glu109Lys and c.650A>C, p.Lys217Thr) and provide a characterization of these variants through in vitro studies.
Lauren Kerr   +5 more
wiley   +1 more source

Concurrent validity and agreement of Bayley‐4, AIMS, and HINE assessments in 1‐year‐old children

open access: yesDevelopmental Medicine &Child Neurology, EarlyView.
In this cross‐sectional study of children around 1‐year‐old, the Bayley‐4 showed concurrent validity and moderate to substantial agreement with the AIMS and the HINE in both clinical and home settings. Abstract Aim To examine concurrent validity between the Bayley Scales of Infant and Toddler Development, Fourth Edition (Bayley‐4) gross motor subtest ...
Weiyang Deng   +14 more
wiley   +1 more source

Nonhuman Pedagogical Relations: Towards Conceptual Limits

open access: yesEducational Theory, EarlyView.
Abstract This article considers the pedagogical relation as a relation to a nonhuman educator, wherein the educatee is a member of the Homo sapiens species. My aim is to clarify the extent to which a nonhuman‐human relation can be understood as pedagogical.
Silas C. Krabbe
wiley   +1 more source

Duodenal stricture and portal gas accumulation secondary to ulcerative, fibronecrotising duodenitis in a foal

open access: yesEquine Veterinary Education, EarlyView.
Summary Gastroduodenal ulcer disease with secondary stricture formation of the proximal duodenum and portal gas accumulation is described in a neonatal foal. Conventional diagnostics were performed to reach a diagnosis, including gastroscopy, ultrasonography and positive contrast radiography. In addition, a post‐mortem CT was acquired with the contrast
R. F. Dash   +3 more
wiley   +1 more source

Cyclin‐dependent kinase 13 is indispensable for normal mouse heart development

open access: yesJournal of Anatomy, Volume 246, Issue 4, Page 616-630, April 2025.
Congenital heart disease (CHD) is the most common defect in live births. The role of cyclin‐dependent kinase (CDK13) in cardiogenesis and CHD was studied using a transgenic mouse model (Cdk13tm1b) carrying deletion of exons 3 and 4, causing loss of function.
Qazi Waheed‐Ullah   +8 more
wiley   +1 more source

3D transparent technology displays the developmental patterns of ductus arteriosus morphology in chicken embryos before and after birth

open access: yesJournal of Anatomy, EarlyView.
At the eighth week of human embryonic development, 3D transparent imaging enables clear visualization of the outflow tract's morphological features, revealing its anatomical components in detail. Abstract The ductus arteriosus (DA) is a critical fetal vascular structure that shunts blood from the pulmonary artery to the aorta, bypassing the non ...
Conghong Xu   +7 more
wiley   +1 more source

The Evolving Landscape of CHD Genetics: A Contemporary Guide to Genetic Testing and Management

open access: yesJournal of Paediatrics and Child Health, EarlyView.
ABSTRACT Congenital heart disease (CHD) is the most common birth defect, affecting an estimated 9.4/1000 infants globally. The genetics of CHD is complex, with most cases thought to have multifactorial aetiology, implicating both genetic and environmental factors.
Bridget R. O'Malley   +3 more
wiley   +1 more source

Porphyromonas gingivalis GroEL exacerbates orthotopic allograft transplantation vasculopathy via impairment of endothelial cell function

open access: yesMolecular Oral Microbiology, EarlyView.
Abstract Orthotopic allograft transplantation (OAT) is a significant approach to addressing organ failure. However, persistent immune responses to the allograft affect chronic rejection, which induces OAT vasculopathy (OATV) and organ failure. Porphyromonas gingivalis can infiltrate remote organs via the bloodstream, thereby intensifying the severity ...
Chien‐Sung Tsai   +7 more
wiley   +1 more source

Complete aortic coarctation

open access: yesRevista Portuguesa de Cardiologia (English Edition), 2016
Christian Ortega-Loubon   +3 more
openaire   +3 more sources

Uncovering the impact of the cardiovascular system on cerebrovascular health using MRI

open access: yesExperimental Physiology, EarlyView.
Abstract Human cerebrovasculature is finely tuned to enable local changes in blood flow to meet the brain's demands, whilst protecting the brain from systemic changes in blood pressure, both acutely during a heartbeat and chronically over time. This review summarises cerebrovascular structure and function, their role in disease and neurodegeneration ...
Ian D. Driver, Kevin Murphy
wiley   +1 more source

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