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Paroxysmal nocturnal hemoglobinuria

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https://www.readbyqxmd.com/read/27913482/update-on-the-diagnosis-and-management-of-paroxysmal-nocturnal-hemoglobinuria
#1
Charles J Parker
Once suspected, the diagnosis of paroxysmal nocturnal hemoglobinuria (PNH) is straightforward when flow cytometric analysis of the peripheral blood reveals a population of glycosyl phosphatidylinositol anchor protein-deficient cells. But PNH is clinically heterogeneous, with some patients having a disease process characterized by florid intravascular, complement-mediated hemolysis, whereas in others, bone marrow failure dominates the clinical picture with modest or even no evidence of hemolysis observed. The clinical heterogeneity is due to the close, though incompletely understood, relationship between PNH and immune-mediated bone marrow failure, and that PNH is an acquired, nonmalignant clonal disease of the hematopoietic stem cells...
December 2, 2016: Hematology—the Education Program of the American Society of Hematology
https://www.readbyqxmd.com/read/27913467/transplantation-for-bone-marrow-failure-current-issues
#2
Régis Peffault de Latour
The preferred treatment of idiopathic aplastic anemia (AA) is allogeneic hematopoietic stem cell transplantation (HSCT) from a human leukocyte antigen (HLA)-identical sibling donor. Transplantation from a well-matched unrelated donor (MUD) may be considered for patients without a sibling donor after failure of immunosuppressive therapy, as may alternative transplantation (mismatched, cord blood or haplo-identical HSCT) for patients without a MUD. HSCT may also be contemplated for congenital disorders in cases of pancytopenia or severe isolated cytopenia...
December 2, 2016: Hematology—the Education Program of the American Society of Hematology
https://www.readbyqxmd.com/read/27903532/acquired-somatic-mutations-in-pnh-reveal-long-term-maintenance-of-adaptive-nk-cells-independent-from-hspc
#3
Marcus A F Corat, Heinrich Schlums, Chuanfeng Wu, Jakob Theorell, Diego A Espinoza, Stephanie E Sellers, Danielle M Townsley, Neal S Young, Yenan T Bryceson, Cynthia E Dunbar, Thomas Winkler
Natural killer (NK) cells have long been considered short-lived effectors of innate immunity. However, recent animal models and human studies suggest that subsets of NK cells have adaptive features. We investigate clonal relationships of various NK cell subsets, including the adaptive population, by taking advantage of naturally occurring X-linked somatic PIGA mutations in hematopoietic stem and progenitor cells (HSPC) from patients with paroxysmal nocturnal hemoglobinuria (PNH). The affected HSPCs and their progeny lack expression of glycosylphosphatidylinositol (GPI) anchors on their cell surfaces, allowing quantification of PIGA-mutant (GPI-negative) HSPC-derived peripheral blood cell populations...
November 30, 2016: Blood
https://www.readbyqxmd.com/read/27884975/different-clinical-characteristics-of-paroxysmal-nocturnal-hemoglobinuria-in-pediatric-and-adult-patients
#4
Alvaro Urbano-Ispizua, Petra Muus, Hubert Schrezenmeier, Antonio Almeida, Amanda Wilson, Russell E Ware
No abstract text is available yet for this article.
November 24, 2016: Haematologica
https://www.readbyqxmd.com/read/27837250/development-of-a-disease-specific-quality-of-life-questionnaire-for-patients-with-aplastic-anemia-and-or-paroxysmal-nocturnal-hemoglobinuria-qlq-aa-pnh-report-on-phases-i-and-ii
#5
Martha Groth, Susanne Singer, Cathrin Niedeggen, Andrea Petermann-Meyer, Alexander Röth, Hubert Schrezenmeier, Britta Höchsmann, Tim H Brümmendorf, Jens Panse
Acquired aplastic anemia (AA) and paroxysmal nocturnal hemoglobinuria (PNH) are interrelated ultra-rare diseases. Quality of life (QoL) evaluation tools used in studies for AA and PNH are unspecific and designed for cancer patients (e.g., the European Organization for Research and Treatment of Cancer Quality of Life Questionnaire, EORTC QLQ-C30). Given the complexity of AA and PNH, variation in symptoms and treatments, younger age of many patients, and the fact that AA and PNH are not classified as malignant diseases, it is likely that cancer-specific questionnaires are inappropriate...
November 11, 2016: Annals of Hematology
https://www.readbyqxmd.com/read/27812245/paroxysmal-nocturnal-hemoglobinuria-from-bench-to-bed
#6
REVIEW
Amrallah A Mohammed, Hani El-Tanni, Tariq Al-Malki Atiah, Arwa Al-Malki Atiah, Marwan Al-Malki Atiah, Ayman A Rasmy
Paroxysmal nocturnal hemoglobinuria (PNH) is an acquired hemolytic anemia with highly variable clinical symptoms making the diagnosis and prediction of its outcome difficult. It is caused by the expansion of a hematopoietic progenitor cell that has acquired a mutation in the X-linked phosphatidylinositol glycan class A (PIGA) gene that results in deficiency of the glycosylphosphatidylinositol anchor structure responsible for fixing a wide spectrum of proteins particularly CD55 and CD59. The clinical features of this disease arise as a result of complement-mediated hemolysis in unprotected red cells, leukocytes, and platelets as well as the release of free hemoglobin...
December 2016: Indian Journal of Hematology & Blood Transfusion
https://www.readbyqxmd.com/read/27811836/recommendations-for-use-of-meningococcal-conjugate-vaccines-in-hiv-infected-persons-advisory-committee-on-immunization-practices-2016
#7
Jessica R MacNeil, Lorry G Rubin, Monica Patton, Ismael R Ortega-Sanchez, Stacey W Martin
At its June 2016 meeting, the Advisory Committee on Immunization Practices (ACIP) recommended routine use of meningococcal conjugate vaccine (serogroups A, C, W, and Y; including MenACWY-D [Menactra, Sanofi Pasteur] or MenACWY-CRM [Menveo, GlaxoSmithKline]) for persons aged ≥2 months with human immunodeficiency virus (HIV) infection. ACIP has previously recommended routine vaccination of persons aged ≥2 months who have certain medical conditions that increase risk for meningococcal disease (1), including persons who have persistent (e...
November 4, 2016: MMWR. Morbidity and Mortality Weekly Report
https://www.readbyqxmd.com/read/27810992/small-molecule-factor-d-inhibitors-selectively-block-the-alternative-pathway-of-complement-in-paroxysmal-nocturnal-hemoglobinuria-and-atypical-hemolytic-uremic-syndrome
#8
Xuan Yuan, Eleni Gavriilaki, Jane A Thanassi, Guangwei Yang, Andrea C Baines, Steven D Podos, Yongqing Huang, Mingjun Huang, Robert A Brodsky
Paroxysmal nocturnal hemoglobinuria and atypical hemolytic uremic syndrome are diseases of excess activation of the alternative pathway of complement that are treated with eculizumab, a humanized monoclonal antibody against the terminal complement component C5. Eculizumab must be administered intravenously, and moreover some patients with paroxysmal nocturnal hemoglobinuria on eculizumab have symptomatic extravascular hemolysis, indicating an unmet need for additional therapeutic approaches. We report the activity of two novel small-molecule inhibitors of the alternative pathway component factor D using in vitro correlates of both paroxysmal nocturnal hemoglobinuria and atypical hemolytic uremic syndrome...
November 3, 2016: Haematologica
https://www.readbyqxmd.com/read/27780113/the-dysfunction-of-platelets-in-paroxysmal-nocturnal-hemoglobinuria
#9
Rong Fu, Yinping Meng, Yihao Wang, Hui Liu, Yi Liu, Lijuan Li, Shaoxue Ding, Guojin Wang, Jia Song, Zonghong Shao
INTRODUCTION: Thrombosis is a dangerous complication of paroxysmal nocturnal hemoglobinuria (PNH) and has a high mortality rate. However, the mechanism underlying the development of thrombosis in PNH remains unclear. To explore this, platelet function and serum complement activity were investigated in 14 patients with classical PNH, 11 with PNH aplastic anemia (AA) and 30 healthy controls. MATERIAL AND METHODS: Serum concentrations of the terminal complement complex (sC5b-9) were determined by enzyme-linked immunofluorescence assay (ELISA), and the levels of C5b-9, CD61 and CD62p on platelet membranes were determined by flow cytometry...
July 22, 2016: Thrombosis Research
https://www.readbyqxmd.com/read/27775713/small-molecule-factor-d-inhibitors-targeting-the-alternative-complement-pathway
#10
Jürgen Maibaum, Sha-Mei Liao, Anna Vulpetti, Nils Ostermann, Stefan Randl, Simon Rüdisser, Edwige Lorthiois, Paul Erbel, Bernd Kinzel, Fabrice A Kolb, Samuel Barbieri, Julia Wagner, Corinne Durand, Kamal Fettis, Solene Dussauge, Nicola Hughes, Omar Delgado, Ulrich Hommel, Ty Gould, Aengus Mac Sweeney, Bernd Gerhartz, Frederic Cumin, Stefanie Flohr, Anna Schubart, Bruce Jaffee, Richard Harrison, Antonio Maria Risitano, Jörg Eder, Karen Anderson
Complement is a key component of the innate immune system, recognizing pathogens and promoting their elimination. Complement component 3 (C3) is the central component of the system. Activation of C3 can be initiated by three distinct routes-the classical, the lectin and the alternative pathways-with the alternative pathway also acting as an amplification loop for the other two pathways. The protease factor D (FD) is essential for this amplification process, which, when dysregulated, predisposes individuals to diverse disorders including age-related macular degeneration and paroxysmal nocturnal hemoglobinuria (PNH)...
October 24, 2016: Nature Chemical Biology
https://www.readbyqxmd.com/read/27766064/characteristics-of-taiwanese-patients-of-pnh-in-the-international-pnh-registry
#11
Wen-Chien Chou, Wei-Han Huang, Ming-Chung Wang, Chao-Sung Chang, Shih-Peng Yeh, Tzeon-Jye Chiou, Yeu-Chin Chen, Tseng-Hsi Lin, Ming-Ching Shen
BACKGROUND: Paroxysmal nocturnal hemoglobinuria (PNH) is a rare and acquired hematopoietic stem cell disease, with florid clinical presentations. Although this disease has been characterized in the western countries, its clinical and laboratory features in Taiwan have not yet been reported. RESULTS: As a part of an international prospective, non-interventional, observational registration trial of PNH, we have analyzed 63 patients recruited between 2009 and 2015 in Taiwan, with comparison to the 3857 patients in the rest of the world (ROW)...
2016: Thrombosis Journal
https://www.readbyqxmd.com/read/27759825/technical-advances-in-flow-cytometry-based-diagnosis-and-monitoring-of-paroxysmal-nocturnal-hemoglobinuria
#12
Rodolfo Patussi Correia, Laiz Cameirão Bento, Ana Carolina Apelle Bortolucci, Anderson Marega Alexandre, Andressa da Costa Vaz, Daniela Schimidell, Eduardo de Carvalho Pedro, Fabricio Simões Perin, Sonia Tsukasa Nozawa, Cláudio Ernesto Albers Mendes, Rodrigo de Souza Barroso, Nydia Strachman Bacal
Objective: To discuss the implementation of technical advances in laboratory diagnosis and monitoring of paroxysmal nocturnal hemoglobinuria for validation of high-sensitivity flow cytometry protocols. Methods: A retrospective study based on analysis of laboratory data from 745 patient samples submitted to flow cytometry for diagnosis and/or monitoring of paroxysmal nocturnal hemoglobinuria. Results: Implementation of technical advances reduced test costs and improved flow cytometry resolution for paroxysmal nocturnal hemoglobinuria clone detection...
July 2016: Einstein
https://www.readbyqxmd.com/read/27759698/occlusive-nonvasculitic-vasculopathy-a-review
#13
Mar Llamas-Velasco, Victoria Alegría, Ángel Santos-Briz, Lorenzo Cerroni, Heinz Kutzner, Luis Requena
We review the most characteristic clinical and histopathologic findings of the cutaneous manifestations of the occlusive nonvasculitic vasculopathic disorders. Clinically, most of these conditions are characterized by retiform purpura. Histopathologic findings consist of occlusion of the vessel lumina with no vasculitis. Different disorders may produce nonvasculitic occlusive vasculopathy in cutaneous blood and lymphatic vessels, including embolization due to cholesterol and oxalate emboli, cutaneous intravascular metastasis from visceral malignancies, atrial myxomas, intravascular angiosarcoma, intralymphatic histiocytosis, intravascular lymphomas, endocarditis, crystal globulin vasculopathy, hypereosinophilic syndrome, and foreign material...
October 18, 2016: American Journal of Dermatopathology
https://www.readbyqxmd.com/read/27757214/positive-impact-of-eculizumab-therapy-on-surgery-for-budd-chiari-syndrome-in-a-patient-with-paroxysmal-nocturnal-hemoglobinuria-and-a-long-term-history-of-thrombosis
#14
Silvia De-la-Iglesia, Hugo Luzardo, Angelina Lemes, Melissa Torres, Maria Teresa Gómez-Casares, Naylen Cruz, Teresa Molero
Paroxysmal nocturnal hemoglobinuria (PNH) is associated with severe end-organ damage and a high risk of thrombosis. Budd-Chiari syndrome, which develops after thrombotic occlusion of major hepatic blood vessels, is relatively common in PNH and has been associated with increased mortality. We report the case of a 46-year-old male with PNH who presented with Budd-Chiari syndrome associated with portal cavernoma, portal hypertension and hypersplenism. In September 2010, the patient suffered gastrointestinal bleeding, hematuria, and elevated plasma lactate dehydrogenase; he started eculizumab therapy with a good response...
September 28, 2016: Hematology Reports
https://www.readbyqxmd.com/read/27746432/successful-treatment-of-ascites-using-a-denver-%C3%A2-peritoneovenous-shunt-in-a-patient-with-paroxysmal-nocturnal-hemoglobinuria-and-budd-chiari-syndrome
#15
Tomomi Kogiso, Etsuko Hashimoto, Taito Ito, Toshifumi Hara, Yuichi Ikarashi, Kazuhisa Kodama, Makiko Taniai, Nobuyuki Torii, Kentaro Yoshinaga, Satoru Morita, Yutaka Takahashi, Junji Tanaka, Shuji Sakai, Masakazu Yamamoto, Katsutoshi Tokushige
A 56-year-old man was diagnosed with aplastic anemia and paroxysmal nocturnal hemoglobinuria at 43 years of age and treatment with cyclosporin A was started. Liver cirrhosis, ascites, and thrombus in the hepatic veins were found at 56 years of age and Budd-Chiari syndrome (BCS) was diagnosed according to angiography findings. He was treated with diuretics and paracentesis was performed several times, but with limited efficacy. A Denver(®) peritoneovenous shunt (PVS) was inserted into the right jugular vein; his ascites and renal function improved immediately and his general condition has remained good for 12 months since starting the above treatment regimen...
2016: Internal Medicine
https://www.readbyqxmd.com/read/27743175/evaluation-of-efficacy-of-alemtuzumab-in-5-patients-with-aplastic-anemia-and-or-myelodysplastic-neoplasm
#16
Wolfgang Füreder, Sabine Cerny-Reiterer, Wolfgang R Sperr, Leonhard Müllauer, Eva Jäger, Ilse Schwarzinger, Klaus Geissler, Peter Valent
Patients with aplastic anemia or hypoplastic myelodysplastic syndrome (MDS) may respond to immunosuppressive therapy, including the anti-CD52 antibody alemtuzumab. We analyzed treatment responses to alemtuzumab in 5 patients with MDS or aplastic anemia (AA) evolving to MDS. Two patients with hypoplastic MDS (hMDS) showed a partial response (PR) to alemtuzumab. In both responding patients, a concomitant paroxysmal nocturnal hemoglobinuria (PNH) clone was detected before therapy. One responder relapsed after 15 months and underwent successful allogeneic stem cell transplantation...
October 14, 2016: Wiener Klinische Wochenschrift
https://www.readbyqxmd.com/read/27727694/paroxysmal-nocturnal-hemoglobinuria-with-different-presentations-a-review-of-three-cases
#17
Priti Agarwal, C L Nawal, Pradeep Mital
No abstract text is available yet for this article.
January 2016: Journal of the Association of Physicians of India
https://www.readbyqxmd.com/read/27725920/flow-cytometric-analysis-four-year-experience-in-a-tertiary-care-centre-of-pakistan
#18
Imran N Ahmad, Salman Assad, Muhammad Rahman, Haider Ghazanfar
PURPOSE:   This study summarizes a four-year experience from the analysis of hematolymphoid malignancies in Pakistani population using a database of six-colored flow cytometry. METHODS: A cross-sectional survey of 323 specimens of hematolymphoid malignancies using six-colored flow cytometry (FC) was carried out in Shifa International Hospital, Islamabad, Pakistan from June 2012 to June 2016. The criterion for specimen adequacy was that the cases have abnormal populations by FC, and the specimen age (time from biopsy to being examined by the six-color FC tube) of three days or less was to be included in the study...
September 1, 2016: Curēus
https://www.readbyqxmd.com/read/27725586/pathogenesis-of-paroxysmal-nocturnal-hemoglobinuria
#19
Yoshiko Murakami
Paroxysmal nocturnal hemoglobinuria (PNH) is an acquired GPI deficiency caused by somatic mutation of the PIGA gene in one or several hematopoietic stem cells. Recently, PNH caused by somatic mutation of one allele of the PIGT gene in combination with a germline mutation of the other allele was reported, showing that PIGA is not the only gene responsible for PNH, though other causes are rare. These mutant cells become GPI deficient, expand clonally and differentiate into all of the hematopoietic lineages. When GPI deficient erythrocytes increase in proportion, massive hemolysis occurs due to activated complement attack during infection...
2016: [Rinshō Ketsueki] the Japanese Journal of Clinical Hematology
https://www.readbyqxmd.com/read/27717414/overview-of-laboratory-testing-and-clinical-presentations-of-complement-deficiencies-and-dysregulation
#20
A Frazer-Abel, L Sepiashvili, M M Mbughuni, M A V Willrich
Historically, complement disorders have been attributed to immunodeficiency associated with severe or frequent infection. More recently, however, complement has been recognized for its role in inflammation, autoimmune disorders, and vision loss. This paradigm shift requires a fundamental change in how complement testing is performed and interpreted. Here, we provide an overview of the complement pathways and summarize recent literature related to hereditary and acquired angioedema, infectious diseases, autoimmunity, and age-related macular degeneration...
2016: Advances in Clinical Chemistry
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