Bi-allelic genetic variants in the translational GTPases GTPBP1 and GTPBP2 cause a distinct identical neurodevelopmental syndrome.

The homologous genes GTPBP1 and GTPBP2 encode GTP-binding proteins 1 and 2, which are involved in ribosomal homeostasis. Pathogenic variants in GTPBP2 were recently shown to be an ultra-rare cause of neurodegenerative or neurodevelopmental disorders (NDDs). Until now, no human phenotype has been linked to GTPBP1.

Same-Day Discharge Post-Transcatheter Aortic Valve Replacement During the COVID-19 Pandemic: The Multicenter PROTECT TAVR Study.

Objectives: The aim of this study was to determine the safety and efficacy of same-day discharge (SDD) after transcatheter aortic valve replacement (TAVR) during the COVID-19 pandemic.

Background: The COVID-19 pandemic has placed significant stress on health care systems worldwide. SDD in highly selected TAVR patients can facilitate the provision of essential cardiovascular care while managing competing COVID-19 resource demands.