0000000000094732
AUTHOR
S. Ibrahim
Biallelic mutations in neurofascin cause neurodevelopmental impairment and peripheral demyelination
See Karakaya and Wirth (doi:10.1093/brain/awz273) for a scientific commentary on this article. Neurofascin (NFASC) isoforms are immunoglobulin cell adhesion molecules involved in node of Ranvier assembly. Efthymiou et al. identify biallelic NFASC variants in ten unrelated patients with a neurodevelopmental disorder characterized by variable degrees of central and peripheral involvement. Abnormal expression of Nfasc155 is accompanied by severe loss of myelinated fibres.
Early-infantile onset epilepsy and developmental delay caused by bi-allelic GAD1 variants
Mice lacking GAD1 show neonatal mortality, but the human phenotype associated with GAD1 disruption is poorly characterized. Neuray et al. describe six patients with biallelic GAD1 mutations, presenting with early-infantile onset epilepsy, neurodevelopmental delay, muscle weakness and non-CNS manifestations.
SARS-CoV-2 vaccination modelling for safe surgery to save lives: data from an international prospective cohort study
Abstract Background Preoperative SARS-CoV-2 vaccination could support safer elective surgery. Vaccine numbers are limited so this study aimed to inform their prioritization by modelling. Methods The primary outcome was the number needed to vaccinate (NNV) to prevent one COVID-19-related death in 1 year. NNVs were based on postoperative SARS-CoV-2 rates and mortality in an international cohort study (surgical patients), and community SARS-CoV-2 incidence and case fatality data (general population). NNV estimates were stratified by age (18–49, 50–69, 70 or more years) and type of surgery. Best- and worst-case scenarios were used to describe uncertainty. Results NNVs were more favourable in su…
Early outcomes and complications following cardiac surgery in patients testing positive for coronavirus disease 2019: An international cohort study
The outbreak of severe acute respiratory syndromecoronavirus-2, the cause of coronavirus disease 2019 (COVID-19) in December 2019 represented a global emergency accounting for more than 2.5 million deaths worldwide.1 It has had an unprecedented influence on cardiac surgery internationally, resulting in cautious delivery of surgery and restructuring of services.2 Understanding the influence of COVID-19 on patients after cardiac surgery is based on assumptions from other surgical specialties and single-center studies. The COVIDSurg Collaborative conducted a multicenter cohort study, including 1128 patients, across 235 hospitals, from 24 countries demonstrating perioperative COVID-19 infection…
Machine learning risk prediction of mortality for patients undergoing surgery with perioperative SARS-CoV-2: the COVIDSurg mortality score
The British journal of surgery 108(11), 1274-1292 (2021). doi:10.1093/bjs/znab183