Gain-of-function and loss-of-function variants in GRIA3 lead to distinct neurodevelopmental phenotypes.

AMPA (α-amino-3-hydroxy-5-methyl-4-isoxazole propionic acid) receptors (AMPARs) mediate fast excitatory neurotransmission in the brain. AMPARs form by homo- or heteromeric assembly of subunits encoded by the GRIA1-GRIA4 genes, of which only GRIA3 is X-chromosomal. Increasing numbers of GRIA3 missense variants are reported in patients with neurodevelopmental disorders (NDD), but only a few have been examined functionally.

Early Onset Colorectal Cancer in Arabs, Are We Dealing with a Distinct Disease?

Early-onset colorectal cancer (EOCRC) incidence is increasing worldwide. Efforts are directed to understand the biological and clinical signatures of EOCRC compared to late-onset colorectal cancer (LOCRC). EOCRC is thought to present differently across different ethnic groups and geographical regions.

The Effect of Nutritional Status on Outcome of Hospitalization in Paediatric Liver Disease Patients.

Introduction: Liver is an important organ for metabolism. It has a major role in integrating the various biochemical pathways of metabolism. Thus, children with chronic liver disease are at high risk for developing undernutrition, with important prognostic implications.