Publications by authors named "J M Lloreda-Garcia"
Background: Lack of specific protocols for neonatal donation contributes to the rarity of neonatal donors. In this study, we evaluate the impact of the implementation of a neonatal donation protocol in our NICU.
Methods: In this single-center study, we conducted a retrospective chart review of neonatal deaths in our NICU from January 2013 to January 2022.
Article Synopsis
- Silver Russell syndrome (SRS) is a genetic disorder that leads to growth issues both before and after birth, including difficulties with feeding and overall growth.
- Some cases involve variants in the PLAG1 gene, which is linked to reduced levels of a growth factor called Insulin-like growth factor 2.
- The report discusses a 26-month-old girl who shows symptoms of SRS and has a new deletion of 2.1 Mb that includes the PLAG1 gene, supporting its connection to the disorder.