De novo and inherited dominant variants in U4 and U6 snRNAs cause retinitis pigmentosa.

The U4 small nuclear RNA (snRNA) forms a duplex with the U6 snRNA and, together with U5 and ∼30 proteins, is part of the U4/U6.U5 tri-snRNP complex, located at the core of the major spliceosome. Recently, recurrent variants in the U4 RNA, transcribed from the gene, and in at least two other genes were discovered to cause neurodevelopmental disorder.

Retrospective Cohort Study Demonstrates Tolerance and Adherence to Pea-Based Complete Enteral Formula When Transitioned from a Previous Hypoallergenic Product.

Background: Plant-based formulas have become increasingly popular due to their health benefits, environmental concerns, cultural beliefs, improved palatability, and decreased cost. A retrospective chart review of medically stable children transitioning from a hypoallergenic formula to a yellow pea protein plant-based formula (PPPBF) was included. This study aimed to assess gastrointestinal tolerance, weight changes, and adherence to receiving a unique PPPBF.

A Narrative Review of Strategies to Optimize Nutrition, Feeding, and Growth among Preterm-Born Infants: Implications for Practice.

Preterm birth is the leading cause of neonatal and under-5 mortality globally, and healthcare-related burden and nutrition-related morbidities are unsustainable, particularly in resource-limited regions. Additionally, preterm infants are susceptible to multiple adverse outcomes including growth faltering, suboptimal neurodevelopment, and multisystemic morbidities. Maturation, healing, repair, and restoration to normalcy in preterm-born infants require optimizing nutrition; only then, prognosis, growth, neurodevelopment, and overall quality of life can improve.