Genetic Variants of Na+,K+‐ATPase Associated With Neurological Disorders: A Systematic Review
ABSTRACT Neurological disorders encompass a wide range of severe symptoms and manifestations, many of which are associated with genetic variants that affect ionic homeostasis. Na+,K+‐ATPase, a transmembrane enzyme responsible for maintaining electrochemical gradients in cells, plays a crucial role in neuronal excitability and brain function.
Giovana Kummer da Rosa +3 more
wiley +1 more source
Tiny Bites, a digital health intervention delivered in early childhood education and care centres to support educators and caregivers to prevent childhood obesity: study protocol for a cluster randomised controlled trial. [PDF]
Yoong SL +21 more
europepmc +1 more source
The Diagnosis That Arrived Decades Late: Living Without and Then With Myhre Syndrome
ABSTRACT Myhre syndrome (MIM #139210) is a rare multisystem disorder first described in 1981, characterized by short stature, neurodevelopmental delay, joint contractures, and cardiopulmonary complications. Its molecular basis, recurrent pathogenic variants in SMAD4, was not discovered until 2011. This narrative is based on a review of medical records,
Abdallah F. Elias
wiley +1 more source
On-site breakfast provision in early childhood education and care (ECEC) services in Australia: a multi-method investigation. [PDF]
Park SY +4 more
europepmc +1 more source
ABSTRACT Evidence on developmental milestones in children with arthrogryposis multiplex congenita (AMC) under the age of five is scarce. This multisite cross‐sectional study described developmental status and examined factors associated with milestone attainment in 143 children aged 0–66 months from a pediatric AMC Registry.
Ahlam Zidan +13 more
wiley +1 more source
"First Bite": An intervention to increase children's vegetable consumption in Early Childhood Education and Care (ECEC) services in areas of high socioeconomic disadvantage - a cluster randomized controlled trial protocol. [PDF]
Duncan S +8 more
europepmc +1 more source
ABSTRACT Arthrogryposis multiplex congenita (AMC) is a group of rare congenital conditions, characterized by multiple joint contractures but may involve any body system including central nervous system. AMC is etiologically heterogeneous, with over 400 genetic and many non‐genetic causes implicated in its prenatal development.
Shahrzad Nematollahi +20 more
wiley +1 more source
Facilitating children's communication in problem-solving activities with a coding toy: teachers' semiotic mediation in early childhood education and care. [PDF]
Granone F, Pollarolo E.
europepmc +1 more source

