Bi-allelic ATG4D variants are associated with a neurodevelopmental disorder characterized by speech and motor impairment - npj Genomic Medicine

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Scientists discover a rare neurological disease involving cellular recycling

The authors thank all the patients and their families for their participation in this study. The authors thank Drs. Virginie Betin and Jon D. Lane for helpful discussions and sharing their technical expertise on the protein purification and in vitro GABARAPL1 priming assay as well as Drs. Thanh Ngoc Nguyen and Michael Lazarou for sharing theknockout cell lines.

Marie Morimoto, Mariska Davids, Ellen F. Macnamara, Jennifer L. Murphy, Maria T. Acosta, Camille Wang, Elizabeth A. Burke, Thomas Cassini, Heather A. Colley, Precilla D’Souza, Joie Davis, Jyoti G. Dayal, Argenia L. Doss, David J. Eckstein, Bernadette Gochuico, Rena A. Godfrey, Don Hadley, Sarah Hutchison, Wendy J. Introne, Orpa Jean-Marie, Donna M. Krasnewich, Valerie V. Maduro, Laura A. Mamounas, Teri A. Manolio, Donna Novacic, Barbara N.

Department of Medical Genetics, Children’s Hospitals and Clinics of Minnesota, Minneapolis, MN, 55404, USADepartment of Medical Genetics, Faculty of Medicine, University of British Columbia, Vancouver, BC, V6H 3N1, CanadaProvincial Medical Genetics Program, British Columbia Women’s and Children’s Hospital, Vancouver, BC, V6H 3N1, CanadaDepartment of Pediatrics, Faculty of Medicine, King Abdulaziz University, Jeddah, Saudi ArabiaCanada’s Michael Smith Genome Sciences Centre, BC Cancer,...

Margaret Adam, Laura Amendola, Michael Bamshad, Anita Beck, Jimmy Bennett, Beverly Berg-Rood, Elizabeth Blue, Brenna Boyd, Peter Byers, Sirisak Chanprasert, Michael Cunningham, Katrina Dipple, Daniel Doherty, Dawn Earl, Ian Glass, Katie Golden-Grant, Sihoun Hahn, Anne Hing, Fuki M. Hisama, Martha Horike-Pyne, Gail P. Jarvik, Jeffrey Jarvik, Suman Jayadev, Christina Lam, Kenneth Maravilla, Heather Mefford, J.

 

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Acute phase characteristics and long-term complications of pulmonary embolism in COVID-19 compared to non-COVID-19 cohort: a large single-centre study - BMC Pulmonary MedicineBackground To compare the severity of pulmonary embolism (PE) and the long-term complications between patients with and without COVID-19, and to investigate whether the tools for risk stratification of death are valid in this population. Methods We retrospectively included hospitalized patients with PE from 1 January 2016 to 31 December 2022. Comparisons for acute episode characteristics, risk stratification of the PE, outcomes, and long-term complications were made between COVID and non-COVID patients. Results We analyzed 116 (27.5%) COVID patients and 305 (72.4%) non-COVID patients. In patients with COVID-19, the traditional risk factors for PE were absent, and the incidence of deep vein thrombosis was lower. COVID patients showed significantly higher lymphocyte count, lactate dehydrogenase, lactic acid, and D-dimer levels. COVID patients had PE of smaller size (12.3% vs. 25.5% main pulmonary artery, 29.8% vs. 37.1% lobar, 44.7% vs. 29.5% segmental and 13.2% vs. 7.9% subsegmental, respectively; p | 0.001), less right ventricular dysfunction (7.7% vs. 17.7%; p = 0.007) and higher sPESI score (1.66 vs. 1.11; p | 0.001). The need for mechanical ventilation was significantly higher in COVID patients (8.6% vs. 1.3%; p | 0.001); However, the in-hospital death was less (5.2% vs. 10.8%; p = 0.074). The incidence of long-term complications was lower in COVID cohort (p | 0.001). PE severity assessed by high sPESI and intermediate and high-risk categories were independently associated with in-hospital mortality in COVID patients. Conclusion The risk of in-hospital mortality and the incidence of long-term complications were lower in COVID-19. The usual tools for risk stratification of PE are valid in COVID patients.
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