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Autor:
Julian Zielenski, Allison Handler, Mark D. Schluchter, John M. Dunn, David C. Fargo, Michael R. Knowles, Andrew J. Sandford, Fei Zou, Michael W. Konstan, Ruslan Dorfman, Mary Corey, Katrina A.B. Goddard, Fred A. Wright, Airong Xu, Maimoona A. Zariwala, Rhonda G. Pace, Rebecca J. Darrah, Peter R. Durie, Mitchell L. Drumm, James R. Yankaskas
Publikováno v:
New England Journal of Medicine. 353:1443-1453
Polymorphisms in genes other than the cystic fibrosis transmembrane conductance regulator (CFTR) gene may modify the severity of pulmonary disease in patients with cystic fibrosis.We performed two studies with different patient samples. We first test
Autor:
Neil E. Bowles, Jeffrey A. Towbin, Geoffrey L. Rosenthal, Richard E. Chinnock, Joyce K. Johnston, Girish S Shirali, Jiyuan Ni
Publikováno v:
New England Journal of Medicine. 344:1498-1503
The survival of recipients of cardiac allografts is limited by rejection, lymphoproliferative disease, and coronary vasculopathy. The purpose of this study in children who had received heart transplants was to evaluate the cardiac allografts for myoc
Publikováno v:
New England Journal of Medicine. 335:1799-1805
Ten percent of whites are heterozygous for the HLA-linked hemochromatosis mutation. We performed a cross-sectional analysis of 1058 genotyped heterozygotes to define the effects of age and sex on the phenotype.The heterozygous genotype was assigned t
Autor:
Murat Gunel, Richard P. Lifton, Issam A. Awad, Thomas A. Kopitnik, Gary K. Steinberg, Steven L. Giannotta, Leslie Morrison, Carol Nelson-Williams, John A. Anson, Karin E. Finberg, H. Hunt Batjer
Publikováno v:
New England Journal of Medicine. 334:946-951
Cerebral cavernous malformation is a vascular disease of the brain causing headaches, seizures, and cerebral hemorrhage. Familial and sporadic cases are recognized, and a gene causing familial disease has been mapped to chromosome 7. Hispanic America
Autor:
Djj Halley, Amw vandenOuweland, Hj Veeze, Se Overbeek, Jc Dejongste, W. Bakker, Kh Gan, Hans Scheffer, A Vanderhout, Hgm Heijerman
Publikováno v:
New England Journal of Medicine. 333:95-99
Cystic fibrosis is the most common lethal autosomal recessive disorder among whites. Among Dutch patients with cystic fibrosis, delta F508 is the most common mutation and A455E the second most common mutation of the cystic fibrosis transmembrane cond
Autor:
Francis M. Giardiello, G. Johan A. Offerhaus, Anne C. Tersmette, Steven M. Powell, Ramon Parsons, Zane Cohen, Anne J. Krush, Fowzia Taqi, Kenneth W. Kinzler, Bert Vogelstein, Nickolas Papadopoulos, Gloria M. Petersen, Bernard Têtu, Jin Jen, Patricia A. Wood, Theresa Berk, Susan V. Booker, Bo Liu, Stanley R. Hamilton, Peter C. Burger
Publikováno v:
New England Journal of Medicine. 332:839-847
Turcot's syndrome is characterized clinically by the concurrence of a primary brain tumor and multiple colorectal adenomas. We attempted to define the syndrome at the molecular level.Fourteen families with Turcot's syndrome identified in two registri
Autor:
W. Edward Highsmith, Lauranell H. Burch, Michael R. Knowles, Lawrence M. Silverman, Lynne M. Quittell, Alexander Spock, Kenneth J. Friedman, John C. Olsen, Thomas E. Boat, Jack D. Gorvoy, Zhaoqing Zhou, Richard C. Boucher
Publikováno v:
New England Journal of Medicine. 331:974-980
Many patients with chronic pulmonary disease similar to that seen in cystic fibrosis have normal (or nondiagnostic) sweat chloride values. It has been difficult to make the diagnosis of cystic fibrosis in these patients because no associated mutation
Autor:
Brian D. Plikaytis, Matthew L. Cartter, James L. Hadler, Jay D. Wenger, Bradley A. Perkins, Douglas H. Hamilton, Russell L. Regnery, Kenneth M. Zangwill
Publikováno v:
New England Journal of Medicine. 329:8-13
Although cat scratch disease is commonly diagnosed in patients who have unexplained regional lymphadenopathy after encounters with cats, its epidemiology and the risk factors for disease are not clearly defined, and there is no generally accepted dia
Autor:
Jean-Jacques Vanderhaeghen, M H De Laet, Jean-Marie Vanderwinden, Serge N. Schiffmann, Pierre Mailleux
Publikováno v:
New England Journal of Medicine. 327:511-515
Hypertrophic pyloric stenosis is a common infantile disorder characterized by enlarged pyloric musculature and gastric-outlet obstruction. Its physiopathologic mechanism is not known, but a defect in pyloric relaxation (pylorospasm) has been postulat
Autor:
Laura Kasch, Garry R. Cutting, Stylianos E. Antonarakis, Haig H. Kazazian, Lap Chee Tsui, Beryl J. Rosenstein
Publikováno v:
New England Journal of Medicine. 323:1685-1689
CYSTIC fibrosis is the most common lethal inherited disorder in the white population. It is manifested by viscous secretions in the lungs and pancreas and abnormal electrolyte composition of sweat.1 Epithelial cells from patients with cystic fibrosis