CHARGE Syndrome: A Narrative Review and Update on Diagnosis, Assessment and Management
ABSTRACT Background CHARGE syndrome (CS) is a rare multisystemic genetic condition caused by a pathogenic variant in the DNA‐binding protein‐7 CHD7 gene. The condition affects the development of neural crest cells, which give rise to craniofacial structures, cranial nerves, ears, eyes and the heart, resulting in diverse and complex clinical features ...
Eleni M. van Gelder +7 more
wiley +1 more source
Early neonatal diagnosis of SSR4-related congenital disorder of glycosylation with severe congenital heart defects: a case report and systematic review. [PDF]
Zhao L, Zeng L, Yi M, Yuan W.
europepmc +1 more source
A graphical abstract recapping the different sources of dental, periodontal, and other oral‐derived mesenchymal stromal cells (MSCs) and their regenerative mechanisms and potentials. The review's article findings bridge fundamental biological science with translational advances, highlighting the significance of MSCs in craniofacial regenerative ...
Karim M. Fawzy El‐Sayed +6 more
wiley +1 more source
Relationships among depression, anxiety and suicidal ideation in parents of children with congenital heart defects: A dynamic triad. [PDF]
Chinawa JM +6 more
europepmc +1 more source
Objectives This case series aims to describe the use of video‐assisted thoracoscopic surgery for the treatment of pectus excavatum. Materials and Methods Six male, intact kittens, with a median age of 3.3 months (range, 2.5 to 4 months) and median weight of 1.75 kg (range, 0.44 to 2 kg), were presented to one of two referral institutions for evaluation
G. Jones +5 more
wiley +1 more source
ABSTRACT Insomnia may play a causal role in type 2 diabetes (T2D). Addressing insomnia through cognitive behavioural therapy (CBTi) in people with non‐diabetic hyperglycaemia could potentially reduce the risk of progression to T2D. To inform a future randomised trial, we performed a feasibility study of digital CBT (dCBTi) in individuals at increased ...
Rachel Sharman +11 more
wiley +1 more source
Prenatal exposure to vanadium and lead and its impact on the risk of congenital heart defects in neonates: evidence from the Lanzhou Birth Cohort. [PDF]
Wei Y +11 more
europepmc +1 more source
ABSTRACT Background Residing in socioeconomically vulnerable areas is known to be associated with increased preterm birth (PTB) risk in the general population. However, the relationship between social vulnerability and PTB remains unexplored among infants with trisomy 21, who experience more than twice the PTB rate of the general population ...
Fatima R. Sheriff +6 more
wiley +1 more source
DNA methylation analysis of NOTCH1 variants reveals the first episignature for non-syndromic congenital heart defects. [PDF]
Dombrowsky G +34 more
europepmc +1 more source
Prevalence of iron deficiency in Vietnamese children with congenital heart defects before and after surgery: an observational study. [PDF]
Tran TAT +7 more
europepmc +1 more source

