COVID‐19 and cardiothoracic surgery: Effects on training and workforce utilization in a global pandemic

Background The COVID-19 pandemic has disrupted all aspects of healthcare, including cardiothoracic surgery (CTS). We sought to determine the pandemic's impact on CTS trainees' educational experiences. Methods A survey was developed and distributed to members of the Thoracic Surgery Residents Association and other international CTS trainees. Trainees were asked to evaluate their cumulative experiences and share their overall perceptions of how CTS training had been impacted during the earliest months of the COVID-19 pandemic (i.e., since March 01, 2020). Surveys were distributed and responses were recorded June 25–August 05, 2020. In total, 748 surveys were distributed and 166 responses were received (overall response rate 22.2%). Of these, 126 of 166 responses (75.9%) met inclusion criteria for final analysis. Results Final responses analyzed included 45 of 126 (35.7%) United States (US) and 81 of 126 (64.3%) international trainees, including 101 of 126 (80.2%) senior and 25 of 126 (19.8%) junior trainees. Most respondents (76/126, 43.2%) lost over 1 week in the hospital due to the pandemic. Juniors (12/25, 48.0%) were more likely than seniors (20/101, 19.8%) to be reassigned to COVID-19-specific units (p < .01). Half of trainees (63/126) reported their case volumes were reduced by over 50%. US trainees (42/45, 93.3%) were more likely than international trainees (58/81, 71.6%) to report reduced operative case volumes (p < .01). Most trainees (104/126, 83%) believed their overall clinical acumen was not adversely impacted by the pandemic. Conclusions CTS trainees in the United States and abroad have been significantly impacted by the COVID-19 pandemic, with time lost in the hospital, decreased operative experiences, less time on CTS services, and frequent reassignment to COVID-19-specific care settings

MN1 C-terminal truncation syndrome is a novel neurodevelopmental and craniofacial disorder with partial rhombencephalosynapsis

Contains fulltext : 218289.pdf (Publisher’s version ) (Closed access)MN1 encodes a transcriptional co-regulator without homology to other proteins, previously implicated in acute myeloid leukaemia and development of the palate. Large deletions encompassing MN1 have been reported in individuals with variable neurodevelopmental anomalies and non-specific facial features. We identified a cluster of de novo truncating mutations in MN1 in a cohort of 23 individuals with strikingly similar dysmorphic facial features, especially midface hypoplasia, and intellectual disability with severe expressive language delay. Imaging revealed an atypical form of rhombencephalosynapsis, a distinctive brain malformation characterized by partial or complete loss of the cerebellar vermis with fusion of the cerebellar hemispheres, in 8/10 individuals. Rhombencephalosynapsis has no previously known definitive genetic or environmental causes. Other frequent features included perisylvian polymicrogyria, abnormal posterior clinoid processes and persistent trigeminal artery. MN1 is encoded by only two exons. All mutations, including the recurrent variant p.Arg1295* observed in 8/21 probands, fall in the terminal exon or the extreme 3' region of exon 1, and are therefore predicted to result in escape from nonsense-mediated mRNA decay. This was confirmed in fibroblasts from three individuals. We propose that the condition described here, MN1 C-terminal truncation (MCTT) syndrome, is not due to MN1 haploinsufficiency but rather is the result of dominantly acting C-terminally truncated MN1 protein. Our data show that MN1 plays a critical role in human craniofacial and brain development, and opens the door to understanding the biological mechanisms underlying rhombencephalosynapsis