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7897. Suicide.
Throughout the world, approximately 800,000 people die by suicide every year, accounting for 1.5% of all deaths. Suicide is the 10th leading cause of death in North America and the foremost cause of death worldwide among persons 15 to 24 years of age.
7898. JAK Inhibitor Therapy in a Child with Inherited USP18 Deficiency.
作者: Fahad Alsohime.;Marta Martin-Fernandez.;Mohamad-Hani Temsah.;Majed Alabdulhafid.;Tom Le Voyer.;Malak Alghamdi.;Xueer Qiu.;Najla Alotaibi.;Areej Alkahtani.;Sofija Buta.;Emmanuelle Jouanguy.;Ayman Al-Eyadhy.;Conor Gruber.;Gamal M Hasan.;Fahad A Bashiri.;Rabih Halwani.;Hamdy H Hassan.;Saleh Al-Muhsen.;Nouf Alkhamis.;Zobaida Alsum.;Jean-Laurent Casanova.;Jacinta Bustamante.;Dusan Bogunovic.;Abdullah A Alangari.
来源: N Engl J Med. 2020年382卷3期256-265页
Deficiency of ubiquitin-specific peptidase 18 (USP18) is a severe type I interferonopathy. USP18 down-regulates type I interferon signaling by blocking the access of Janus-associated kinase 1 (JAK1) to the type I interferon receptor. The absence of USP18 results in unmitigated interferon-mediated inflammation and is lethal during the perinatal period. We describe a neonate who presented with hydrocephalus, necrotizing cellulitis, systemic inflammation, and respiratory failure. Exome sequencing identified a homozygous mutation at an essential splice site on USP18. The encoded protein was expressed but devoid of negative regulatory ability. Treatment with ruxolitinib was followed by a prompt and sustained recovery. (Funded by King Saud University and others.).
7899. A Randomized Trial of Erythropoietin for Neuroprotection in Preterm Infants.
作者: Sandra E Juul.;Bryan A Comstock.;Rajan Wadhawan.;Dennis E Mayock.;Sherry E Courtney.;Tonya Robinson.;Kaashif A Ahmad.;Ellen Bendel-Stenzel.;Mariana Baserga.;Edmund F LaGamma.;L Corbin Downey.;Raghavendra Rao.;Nancy Fahim.;Andrea Lampland.;Ivan D Frantz.;Janine Y Khan.;Michael Weiss.;Maureen M Gilmore.;Robin K Ohls.;Nishant Srinivasan.;Jorge E Perez.;Victor McKay.;Phuong T Vu.;Jean Lowe.;Karl Kuban.;T Michael O'Shea.;Adam L Hartman.;Patrick J Heagerty.; .
来源: N Engl J Med. 2020年382卷3期233-243页
High-dose erythropoietin has been shown to have a neuroprotective effect in preclinical models of neonatal brain injury, and phase 2 trials have suggested possible efficacy; however, the benefits and safety of this therapy in extremely preterm infants have not been established.
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