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3801. Rare Antagonistic Leptin Variants and Severe, Early-Onset Obesity.
作者: Jan-Bernd Funcke.;Barbara Moepps.;Julian Roos.;Julia von Schnurbein.;Kenneth Verstraete.;Elke Fröhlich-Reiterer.;Katja Kohlsdorf.;Adriana Nunziata.;Stephanie Brandt.;Alexandra Tsirigotaki.;Ann Dansercoer.;Elisabeth Suppan.;Basma Haris.;Klaus-Michael Debatin.;Savvas N Savvides.;I Sadaf Farooqi.;Khalid Hussain.;Peter Gierschik.;Pamela Fischer-Posovszky.;Martin Wabitsch.
来源: N Engl J Med. 2023年388卷24期2253-2261页
Hormone absence or inactivity is common in congenital disease, but hormone antagonism remains controversial. Here, we characterize two novel homozygous leptin variants that yielded antagonistic proteins in two unrelated children with intense hyperphagia, severe obesity, and high circulating levels of leptin. Both variants bind to the leptin receptor but trigger marginal, if any, signaling. In the presence of nonvariant leptin, the variants act as competitive antagonists. Thus, treatment with recombinant leptin was initiated at high doses, which were gradually lowered. Both patients eventually attained near-normal weight. Antidrug antibodies developed in the patients, although they had no apparent effect on efficacy. No severe adverse events were observed. (Funded by the German Research Foundation and others.).
3802. Dexamethasone versus Surgery for Chronic Subdural Hematoma.
作者: Ishita P Miah.;Dana C Holl.;Jurre Blaauw.;Hester F Lingsma.;Heleen M den Hertog.;Bram Jacobs.;Nyika D Kruyt.;Joukje van der Naalt.;Suzanne Polinder.;Rob J M Groen.;Kuan H Kho.;Fop van Kooten.;Clemens M F Dirven.;Wilco C Peul.;Korné Jellema.;Ruben Dammers.;Niels A van der Gaag.; .
来源: N Engl J Med. 2023年388卷24期2230-2240页
The role of glucocorticoids without surgical evacuation in the treatment of chronic subdural hematoma is unclear.
3803. Base-Edited CAR7 T Cells for Relapsed T-Cell Acute Lymphoblastic Leukemia.
作者: Robert Chiesa.;Christos Georgiadis.;Farhatullah Syed.;Hong Zhan.;Annie Etuk.;Soragia Athina Gkazi.;Roland Preece.;Giorgio Ottaviano.;Toni Braybrook.;Jan Chu.;Agnieszka Kubat.;Stuart Adams.;Rebecca Thomas.;Kimberly Gilmour.;David O'Connor.;Ajay Vora.;Waseem Qasim.; .
来源: N Engl J Med. 2023年389卷10期899-910页
Cytidine deamination that is guided by clustered regularly interspaced short palindromic repeats (CRISPR) can mediate a highly precise conversion of one nucleotide into another - specifically, cytosine to thymine - without generating breaks in DNA. Thus, genes can be base-edited and rendered inactive without inducing translocations and other chromosomal aberrations. The use of this technique in patients with relapsed childhood T-cell leukemia is being investigated.
3805. Prehospital Tranexamic Acid for Severe Trauma.
作者: .;Russell L Gruen.;Biswadev Mitra.;Stephen A Bernard.;Colin J McArthur.;Brian Burns.;Dashiell C Gantner.;Marc Maegele.;Peter A Cameron.;Bridget Dicker.;Andrew B Forbes.;Sally Hurford.;Catherine A Martin.;Stefan M Mazur.;Robert L Medcalf.;Lynnette J Murray.;Paul S Myles.;Sze J Ng.;Veronica Pitt.;Stephen Rashford.;Michael C Reade.;Andrew H Swain.;Tony Trapani.;Paul J Young.
来源: N Engl J Med. 2023年389卷2期127-136页
Whether prehospital administration of tranexamic acid increases the likelihood of survival with a favorable functional outcome among patients with major trauma and suspected trauma-induced coagulopathy who are being treated in advanced trauma systems is uncertain.
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