Diaphragm electrical activity during weaning of nasal high-flow therapy in preterm infants.

Objective: To determine whether electrical activity of the diaphragm (Edi) changes with weaning nasal high-flow (HF) therapy in preterm infants according to a standardised protocol.

Design: Prospective observational cohort study.

Setting: Neonatal intensive care unit.

Life-threatening bronchopulmonary dysplasia: a British Paediatric Surveillance Unit Study.

Objectives: To assess the minimum incidence of life-threatening bronchopulmonary dysplasia (BPD), defined as need for positive pressure respiratory support or pulmonary vasodilators at 38 weeks corrected gestational age (CGA), in infants born <32 weeks gestation in the UK and Ireland; and to describe patient characteristics, management and outcomes to 1 year.

Methods: Prospective national surveillance study performed via the British Paediatric Surveillance Unit from June 2017 to July 2018. Data were collected in a series of three questionnaires from notification to 1 year of age.

De novo and rare inherited mutations implicate the transcriptional coregulator TCF20/SPBP in autism spectrum disorder.

Background: Autism spectrum disorders (ASDs) are common and have a strong genetic basis, yet the cause of ∼70-80% ASDs remains unknown. By clinical cytogenetic testing, we identified a family in which two brothers had ASD, mild intellectual disability and a chromosome 22 pericentric inversion, not detected in either parent, indicating de novo mutation with parental germinal mosaicism. We hypothesised that the rearrangement was causative of their ASD and localised the chromosome 22 breakpoints.