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Autor:
David Avelar Rodriguez, Julia Orkin
Publikováno v:
New England Journal of Medicine. 385:e16
An Icteric Tongue A 12-year-old boy presented with a 4-day history of sore throat and dark urine. He was found to have jaundice with an icteric tongue, and the hemoglobin level was 6.1 g per decili...
Autor:
Fernando D. Martinez
Publikováno v:
New England Journal of Medicine. 375:871-878
The conventional thinking about COPD is that exposures in adult life, such as smoking, lead to a low FEV1:FVC ratio, the physiological hallmark of COPD. In this review, the effect of early-life exposures on the lung that could lead to expiratory airf
Publikováno v:
New England Journal of Medicine. 380:1585-1586
Autor:
Anne Chew, David M. Barrett, Yolanda D. Mahnke, Bruce L. Levine, Noelle Frey, David L. Porter, Pamela A. Shaw, J. Joseph Melenhorst, Carl H. June, Zhaohui Zheng, Susan R. Rheingold, Nancy Bunin, Shannon L. Maude, Vanessa E. Gonzalez, David T. Teachey, Stephan A. Grupp, Simon F. Lacey, Angela Shen, Richard Aplenc
Publikováno v:
New England Journal of Medicine. 371:1507-1517
Relapsed acute lymphoblastic leukemia (ALL) is difficult to treat despite the availability of aggressive therapies. Chimeric antigen receptor-modified T cells targeting CD19 may overcome many limitations of conventional therapies and induce remission
Publikováno v:
New England Journal of Medicine. 371:549-558
This review discusses unique aspects of kidney transplantation in children that necessitate specialized approaches and have resulted in clinical advances so that kidney transplantations in young children have higher success rates than in any other ag
Autor:
Minna Pekkinen, Outi Mäkitie, Terhi J. Heino, Lisette Nevarez, Cynthia J. Curry, Christine M. Laine, Heikki Kröger, Mira Aronen, Kyu Sang Joeng, Maija Wessman, Daniel H. Cohn, Brendan Lee, Deborah Krakow, Philippe M. Campeau, James T. Lu, William G. Cole, Richard A. Gibbs, Monica Grover, Riku Kiviranta, Tero Laine, Vappu Nieminen-Pihala, Kati Tarkkonen, Anna-Elina Lehesjoki
Publikováno v:
New England Journal of Medicine. 368:1809-1816
This report identifies human skeletal diseases associated with mutations in WNT1. In 10 family members with dominantly inherited, early-onset osteoporosis, we identified a heterozygous missense mutation in WNT1, c.652T→G (p.Cys218Gly). In a separat
Autor:
Janice Canvin, Sunil Agarwal, Thomas B. Casale, Marcus Maurer, Ana Giménez-Arnau, Sarbjit S. Saini, Ramona Doyle, Allen P. Kaplan, Hsin-Ju Hsieh, Karin Rosén, Clive Grattan
Publikováno v:
New England Journal of Medicine. 368:924-935
Many patients with chronic idiopathic urticaria (also called chronic spontaneous urticaria) do not have a response to therapy with H-antihistamines, even at high doses. In phase 2 trials, omalizumab, an anti-IgE monoclonal antibody [corrected] that t
Autor:
Arben Emurlai, Katerina Damevska
Publikováno v:
New England Journal of Medicine. 377:e30
A 7-year-old boy with a history of atopic dermatitis presented to the dermatology clinic with a 3-month history of widespread flesh-colored papules over the chest and axilla. A clinical diagnosis of molluscum contagiosum was made.
Autor:
Annette Grüters, Aubène Lèger, Theo J. Visser, Mariella D'Alessandro, Hans van Toor, Graziella Pinto, David Goudie, Michel Polak, Willem Klootwijk, José Moreno
Publikováno v:
New England Journal of Medicine, 358(17), 1811-1818. Massachussetts Medical Society
DEHAL1 has been identified as the gene encoding iodotyrosine deiodinase in the thyroid, where it controls the reuse of iodide for thyroid hormone synthesis. We screened patients with hypothyroidism who had features suggestive of an iodotyrosine deiod
Autor:
Annie Reynolds, Joanne Berghout, Irena Kirillova, John B. Wallingford, Pierre Drapeau, Jonathan R. McDearmid, Zoha Kibar, Elena Torban, Melissa Mathieu, Patrizia De Marco, Julie M. Hayes, Elisa Merello, Philippe Gros, Valeria Capra
Publikováno v:
New England Journal of Medicine. 356:1432-1437
Neural-tube defects such as anencephaly and spina bifida constitute a group of common congenital malformations caused by complex genetic and environmental factors. We have identified three mutations in the VANGL1 gene in patients with familial types