Fiberoptic endoscopic evaluation of swallowing (FEES) in pediatrics: A systematic review.

Objectives: The systematic review aimed to provide an overview of the state-of-art regarding the use of fiberoptic endoscopic evaluation of swallowing (FEES) in pediatrics, specifically investigating FEES feasibility, safety, diagnostic accuracy, and protocols.

Methods: Four electronic databases were searched for original studies on the pediatric population that instrumentally assessed swallowing function using FEES. A hand-search of the references of included studies was performed.

Drug Repurposing and Lysosomal Storage Disorders: A Trick to Treat.

Rare diseases, or orphan diseases, are defined as diseases affecting a small number of people compared to the general population. Among these, we find lysosomal storage disorders (LSDs), a cluster of rare metabolic diseases characterized by enzyme mutations causing abnormal glycolipid storage. Drug repositioning involves repurposing existing approved drugs for new therapeutic applications, offering advantages in cost, time savings, and a lower risk of failure.

Exploring ligand interactions with human phosphomannomutases using recombinant bacterial thermal shift assay and biochemical validation.

PMM2-CDG, a disease caused by mutations in phosphomannomutase-2, is the most common congenital disorder of glycosylation. Yet, it still lacks a cure. Targeting phosphomannomutase-2 with pharmacological chaperones or inhibiting the phosphatase activity of phosphomannomutase-1 to enhance intracellular glucose-1,6-bisphosphate have been proposed as therapeutical approaches.