Results 111 to 120 of about 1,790,196 (391)
Obstetrical aspects in congenital ichtyosis [PDF]
, 2016 We present a case of congenital ichthyosis because obstetrical literature is scarce and most obstetricians could need a reminder and update. Congenital ichthyosis (CI) comprises a variety of skin disorders characterised by abnormal keratinization of the ...
Dehaene, Isabelle +2 more
core
Chest CT scoring for evaluation of lung sequelae in congenital diaphragmatic hernia survivors
, 2020 Objectives Data on long-term structural lung abnormalities in survivors of congenital diaphragmatic hernia (CDH) is scarce. The purpose of this study was to develop a chest computed tomography (CT) score to assess the structural lung sequelae in CDH ...
Aukland, Stein M. +5 more
core +1 more source
Post‐Translational Modifications in Cilia and Ciliopathies
Advanced Science, EarlyView.This review synthesizes current understanding of post‐translational modifications (PTMs) in ciliary proteins and emphasizes their roles in ciliary formation, homeostasis, and signaling. This review also discusses the implication of PTM dysregulation in ciliopathies and explores therapeutic strategies targeting PTM‐modifying enzymes.
Jie Ran, Jun Zhou
wiley +1 more source
The use of Macitentan in Fontan circulation: a case report
BMC Cardiovascular Disorders, 2017 Background The Fontan circulation, a result of a palliative procedure in patients with single systemic ventricles, is defined by chronically elevated pulmonary vascular resistance.
Polyvios Demetriades +4 more
doaj +1 more source
Congenital disorders of glycosylation.
Annals of Translational Medicine, 2018 Congenital disorders of glycosylation are a genetically and clinically heterogeneous group of >130 diseases caused by defects in various steps along glycan modification pathways.
I. Chang, M. He, Christina Lam
semanticscholar +1 more source
Annals of Medicine & Surgery, 2022 Congenital megalourethra is a urogenital anomaly characterized by a cystic dilatation and elongation of the penile urethra resulting from the absence and hypoplasia of the corpus spongiosum and corpus cavernosum, or anterior urethral valve. There are two clinical types: scaphoid and fusiform.
openaire +2 more sources
Advanced Science, EarlyView.Through a comprehensive multi‐omics analysis, this study identifies a marked reduction in Nephronectin (NPNT) expression within fibrotic lung tissue. This reduction impairs the binding capability to the ITGA3 receptor, consequently causing YAP1 to persist in the cytoplasm, where it undergoes degradation.
Jiayu Guo +20 more
wiley +1 more source
MedicinaBackground and Objectives: Congenital heart defects (CHD) affect around 1% of the population, making them the most common congenital disease worldwide. Thanks to advances in treatment, over 90% of affected children are able to reach adulthood, shifting ...
Paul C. Helm +3 more
doaj +1 more source
Imaging of ventricular septal defect: Native and post-repair
International Journal of Cardiology Congenital Heart Disease, 2022 Cardiac imaging using a combination of multiple modalities has become an essential tool in the management of adults with congenital heart disease with the potential to improve the outcome.
Flavia Fusco +4 more
doaj