Results 21 to 30 of about 32,733 (212)

A mutation in a functional Sp1 binding site of the telomerase RNA gene (hTERC) promoter in a patient with Paroxysmal Nocturnal Haemoglobinuria [PDF]

, 2004
Background<br/><br/> Mutations in the gene coding for the RNA component of telomerase, hTERC, have been found in autosomal dominant dyskeratosis congenita (DC) and aplastic anemia.
Ulku, B., Bessler, M., Bilsland, A., Mason, Philip J, Vulliamy, T., Serakinci, Nedime, Dokal, I., Ar, C., Ar, C, Marrone, Anna, Dokal, Inderjeet, Ulku, B, Bessler, Monica, Erzik, C, Serakinci, N, Serakinci, N., Marrone, A, Zhao, Jiangqin, Zhao, J, Dokal, I, Bilsland, A, Mason, PJ, Bilsland, Alan, Ulku, Birsen, Keith, W.N., Bessler, M, Vulliamy, T, Vulliamy, Tom, Keith, W Nicol, Erzik, Can, Marrone, A., Erzik, C., Zhao, J., Mason, P.J., Ar, Cem, Keith, WN, Tom Vulliamy, Alan Bilsland, W Nicol Keith, Jiangqin Zhao, Monica Bessler, Anna Marrone, Inderjeet Dokal, Nedime Serakinci, Philip J Mason, Cem Ar, Can Erzik, Birsen Ulku   +47 more
core   +2 more sources

Paroxysmal Nocturnal Hemoglobinuria [PDF]

Blood, 2014
AbstractParoxysmal nocturnal hemoglobinuria (PNH) is a rare bone marrow failure disorder that manifests with hemolytic anemia, thrombosis, and peripheral blood cytopenias. The absence of two glycosylphosphatidylinositol (GPI)-anchored proteins, CD55 and CD59, leads to uncontrolled complement activation that accounts for hemolysis and other PNH ...
openaire   +2 more sources

PAROXYSMAL HEMOGLOBINURIA [PDF]

Archives of Internal Medicine, 1910
In the case presented in this article, on which our work was performed, any severe chilling of the patient's skin caused a temporary hemoglobinuria, drowsiness, regurgitation of food and other minor symptoms to be mentioned later. The phenomena were produced either by a chilling of the general body surface or, what was more common, by the mere exposure
openaire   +2 more sources

Paroxysmal cold hemoglobinuria

Kazan medical journal, 2021
Paroxysmal cold hemoglobinuria, first described by Dresler in 1854, is characterized by the fact that after cooling a chill sets in and the temperature rises to 39-40 with all the sensations accompanying this state. Then there are pains in the lumbar region and in the abdomen, frequent urge to urinate with cramps, nausea, vomiting.
openaire   +3 more sources

PAROXYSMAL HEMOGLOBINURIA [PDF]

Journal of the American Medical Association, 1914
History. —J., a man aged 45, Swedish, a sheet-metal worker, entered the Peter Bent Brigham Hospital, Sept. 11, 1913, complaining of chills, fever and bloody urine. The family history was unimportant as related to the present illness. The patient had interstitial keratitis at 3 years (?), and measles and small-pox as a child, but no other infectious ...
openaire   +2 more sources

Paroxysmal Nocturnal Hemoglobinuria

Current Opinion in Hematology, 2012
The aim is to report on recent observations related to the natural history of paroxysmal nocturnal hemoglobinuria (PNH) and to review new therapeutic strategies for controlling the hemolysis of PNH.This review focuses on studies designed to characterize the long-term outcome of patients with PNH treated with eculizumab and to define the relationship ...
openaire   +6 more sources

Danazol for paroxysmal nocturnal hemoglobinuria [PDF]

American Journal of Hematology, 1997
Paroxysmal nocturnal hemoglobinuria (PNH) is a rare clonal stem-cell disorder in which blood cells lack complement inhibiting membrane proteins, and become susceptible to complement-mediated injury, leading to chronic intravascular hemolysis and pancytopenia. Glucocorticoids have been a mainstay of therapy.
W J, Harrington, L, Kolodny, L L, Horstman, W, Jy, Y S, Ahn   +4 more
openaire   +2 more sources

Paroxysmal Nocturnal Hemoglobinuria [PDF]

Blood, 1950
Abstract 1. Paroxysmal noctural hemoglobinuria is believed to be an acquired disease of the hematopoietic system in which abnormal red cells, white cells, and platelets are produced. The lesion of the cells probably involves the stromal proteins in such a fashion that they are susceptible to the proteolytic effect of a sytem of normal ...
openaire   +2 more sources

Paroxysmal nocturnal hemoglobinuria [PDF]

Vnitřní lékařství, 2018
Paroxysmal nocturnal hemoglobinuria (PNH) results from a deficiency in inhibitors of activated complement. This lack leads to complement mediated intravascular hemolysis, to activation of coagulation system with increased risk of thrombotic complications and to various degree of bone marrow failure.
openaire   +2 more sources

Paroxysmal nocturnal hemoglobinuria clones in severe aplastic anemia patients treated with horse anti-thymocyte globulin plus cyclosporine

Haematologica, 2010
Background Clones of glycosylphosphatidylinositol-anchor protein-deficient cells are characteristic in paroxysmal nocturnal hemoglobinuria and are present in about 40–50% of patients with severe aplastic anemia.
Phillip Scheinberg, Michael Marte, Olga Nunez, Neal S. Young   +3 more
doaj   +1 more source