نتایج جستجو برای: pnh

تعداد نتایج: 752  

Journal: :Blood 1995
H Nakakuma T Kawaguchi K Horikawa M Hidaka S Nagakura N Iwamoto T Kagimoto K Takatsuki

Recently, the molecular mechanism of the membrane abnormality that leads to an increased susceptibility of affected erythrocytes to complement, resulting in intravascular hemolysis, has been clarified in paroxysmal nocturnal hemoglobinuria (PNH).’4 The next concerns are the mechanisms of thrombosis and bone marrow (BM) hypoplasia that are the major causes of death. Progress in research on the h...

Journal: :Brain : a journal of neurology 2006
E Parrini A Ramazzotti W B Dobyns D Mei F Moro P Veggiotti C Marini E H Brilstra B Dalla Bernardina L Goodwin A Bodell M C Jones M Nangeroni S Palmeri E Said J W Sander P Striano Y Takahashi L Van Maldergem G Leonardi M Wright C A Walsh R Guerrini

Periventricular heterotopia (PH) occurs when collections of neurons lay along the lateral ventricles or just beneath. Human Filamin A gene (FLNA) mutations are associated with classical X-linked bilateral periventricular nodular heterotopia (PNH), featuring contiguous heterotopic nodules, mega cisterna magna, cardiovascular malformations and epilepsy. FLNA encodes an F-actin-binding cytoplasmic...

2015
Jimin Kahng Yonggoo Kim Jung Ok Kim Kwangsang Koh Jong Wook Lee Kyungja Han

BACKGROUND Final diagnosis of paroxysmal nocturnal hemoglobinuria (PNH) may take years demanding a quick diagnosis measure. We used the facts that PNH cells are damaged in acid, and reagents for measuring reticulocytes in Coulter DxH800 (Beckman Coulter, USA) are weakly acidic and hypotonic, to create a new PNH screening marker. METHODS We analyzed 979 complete blood counts (CBC) data from 96...

Journal: :The Journal of clinical investigation 1985
C J Parker T Wiedmer P J Sims W F Rosse

The affected erythrocytes of paroxysmal nocturnal hemoglobinuria (PNH II and PNH III cells) are abnormally sensitive to complement-mediated lysis. Normal human erythrocytes chemically modified by treatment with 2-amino-ethylisothiouronium bromide (AET) have been used as models for PNH cells inasmuch as they also exhibit an enhanced susceptibility to complement. To investigate the bases for the ...

Journal: :Blood 2008
Régis Peffault de Latour Jean Yves Mary Célia Salanoubat Louis Terriou Gabriel Etienne Mohamad Mohty Sophie Roth Sophie de Guibert Sebastien Maury Jean Yves Cahn Gerard Socié

The natural history of paroxysmal nocturnal hemoglobinuria (PNH) clinical subcategories (classic PNH and aplastic anemia [AA]/PNH syndrome) is still unknown. We retrospectively studied 460 PNH patients diagnosed in 58 French hematologic centers from 1950 to 2005. The median (SE) follow-up time was 6.8 (0.5) years. The median survival time (SE) was 22 (2.5) years. We identified 113 patients with...

2017
Michela Sica Tommaso Rondelli Patrizia Ricci Maria De Angioletti Antonio M Risitano Rosario Notaro

BACKGROUND C5 blockade by eculizumab prevents complement-mediated intravascular hemolysis in paroxysmal nocturnal hemoglobinuria (PNH). However, C3-bound PNH red blood cells (RBCs), arising in almost all treated patients, may undergo extravascular hemolysis reducing clinical benefits. Despite the uniform deficiency of CD55 and of CD59, there are always two distinct populations of PNH RBCs, with...

Journal: :Blood 2001
J P Maciejewski D Follmann R Nakamura Y Saunthararajah C E Rivera T Simonis K E Brown J A Barrett N S Young

Many autoimmune diseases are associated with HLA alleles, and such a relationship also has been reported for aplastic anemia (AA). AA and paroxysmal nocturnal hemoglobinuria (PNH) are related clinically, and glycophosphoinositol (GPI)-anchored protein (AP)-deficient cells can be found in many patients with AA. The hypothesis was considered that expansion of a PNH clone may be a marker of immune...

Journal: :American journal of clinical pathology 2009
D Robert Sutherland Nancy Kuek Juan Azcona-Olivera Tanya Anderson Erica Acton David Barth Michael Keeney

Diagnosis of paroxysmal nocturnal hemoglobinuria (PNH) with flow cytometry traditionally involves the analysis of CD55 and CD59 on RBCs and neutrophils. However, the ability to accurately detect PNH RBCs is compromised by prior hemolysis and/or transfused RBCs. Patients with aplastic anemia (AA) and myelodysplastic syndrome (MDS) can also produce PNH clones. We recently described a multiparamet...

Journal: :Blood 1999
R A Brodsky G L Mukhina K L Nelson T S Lawrence R J Jones J T Buckley

Paroxysmal nocturnal hemoglobinuria (PNH) is a clonal stem cell disorder caused by a somatic mutation of the PIGA gene. The product of this gene is required for the biosynthesis of glycosylphosphatidylinositol (GPI) anchors; therefore, the phenotypic hallmark of PNH cells is an absence or marked deficiency of all GPI-anchored proteins. Aerolysin is a toxin secreted by the bacterial pathogen Aer...

2017
Chul Won Choi Jun Ho Jang Jin Seok Kim Deog-Yeon Jo Je-Hwan Lee Sung-Hyun Kim Yeo-Kyeoung Kim Jong-Ho Won Joo Seop Chung Hawk Kim Jae Hoon Lee Min Kyoung Kim Hyeon-Seok Eom Shin Young Hyun Jeong-A Kim Jong Wook Lee

BACKGROUND Patients with paroxysmal nocturnal hemoglobinuria (PNH) often have concurrent aplastic anemia (AA). This study aimed to determine whether eculizumab-treated patients show clinical benefit regardless of concurrent AA. METHODS We analyzed 46 PNH patients ≥18 years of age who were diagnosed by flow cytometry and treated with eculizumab for more than 6 months in the prospective Korean ...

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