Restrictive dermopathy due to ZMPSTE24 deficiency.

Restrictive dermopathy (RD) (OMIM 275210) is a rare, lethal genodermatosis belonging to the group of laminopathies. It is caused by biallelic variants in , which is involved in lamin A post-translational processing or, less frequently, by monoallelic variants in , leading to accumulation of truncated prelamin A protein (Navarro et al., 2004; Navarro et al.

Is there an association between necrotizing enterocolitis in premature neonates and functional gastrointestinal disorders later in childhood?

Background: Stressful events during infancy may predispose to the development of functional gastrointestinal disorders (FGIDs) in childhood.

Aims: To evaluate the association of necrotizing enterocolitis (NEC) with childhood FGIDs.

Methods: We conducted a study, comparing 29 children of eight to ten years with a history of NEC with 58 children with no history of NEC.

A comparison between transcutaneous and total serum bilirubin in healthy-term greek neonates with clinical jaundice.

The accuracy of transcutaneous bilirubin meters has been assessed in newborns from various ethnic backgrounds. However, there are limited data on Greek newborns. Our study examined the accuracy of transcutaneous bilirubin measurements in clinically jaundiced healthy-term Greek newborns, using total serum bilirubin as the reference standard, in order to re-evaluate our local guidelines about neonatal jaundice.