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Paroxysmal nocturnal hemoglobinuria

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
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
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
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
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
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
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
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
Marta Subías Hidalgo, Hector Martin Merinero, Alicia López, Jaouad Anter, Sheila Pinto García, Fernando Ataúlfo Gonzalez-Fernández, Rafael Forés, Margarita Lopez-Trascasa, Ana Villegas, Emilio Ojeda, Santiago Rodríguez de Córdoba
Paroxysmal nocturnal hemoglobinuria (PNH) is an acquired hemolytic anemia characterized by complement-mediated intravascular hemolysis that is effectively treated with eculizumab. However, treatment responses are reported heterogeneous with some patients presenting residual hemolysis and requiring RBC transfusions. Recent reports have shown that both extravascular hemolysis and incomplete C5 blockade can explain these suboptimal hematological responses. Here we have tested our eculizumab-treated PNH patients (n=12) for signs of hemolysis and assessed complement biomarkers...
September 13, 2016: Immunobiology
Nadine Kuhn, Christoph Q Schmidt, Martin Schlapschy, Arne Skerra
The Ornithodoros moubata Complement Inhibitor (OmCI) binds complement component 5 (C5) with high affinity and, thus, selectively prevents proteolytic activation of the terminal lytic complement pathway. A recombinant version of OmCI (also known as Coversin and rEV576) has proven efficacious in several animal models of complement-mediated diseases and successfully completed a phase Ia clinical trial. Coversin is a small 17 kDa lipocalin protein which has a very short plasma half-life if not bound to C5; therefore, the drug requires frequent dosing...
September 26, 2016: Bioconjugate Chemistry
Marta Morado, Alex Freire Sandes, Enrique Colado, Dolores Subirá, Paloma Isusi, María Soledad Noya, María Belén Vidriales, Amparo Sempere, José Ángel Díaz, Alfredo Minguela, Beatriz Álvarez, Cristina Serrano, Teresa Caballero, Mercedes Rey, Ana Pérez Corral, María Cristina Fernández Jiménez, Elena Magro, Angelina Lemes, Celina Benavente, Helena Bañas, Juana Merino, Celine Castejon, Olivier Gutierrez, Pilar Rabasa, Matheus Vescosi Gonçalves, Martin Perez-Andres, Alberto Orfao
BACKGROUND: Although consensus guidelines have been proposed in 2010 for the diagnostic screening of paroxysmal nocturnal hemoglobinuria (PNH) by flow cytometry (FCM), so far no study has investigated the efficiency of such medical indications in multicentric vs. reference laboratory settings. METHODS: Here we evaluate the efficiency of consensus medical indications for PNH testing in 3,938 peripheral blood samples submitted to FCM testing in 24 laboratories in Spain and one reference center in Brazil...
September 6, 2016: Cytometry. Part B, Clinical Cytometry
Fahri Sahin, Olga Meltem Akay, Mesut Ayer, Mehmet Sinan Dal, Sehmus Ertop, Osman Ilhan, Volkan Karakus, Mehmet Ali Ozcan, Vildan Ozkocaman, Hayri Ozsan, Ozan Salim, Mahmut Tobu, Anil Tombak, Tulin Firatli Tuglular, Mehmet Yilmaz, Ali Unal, Mustafa Nuri Yenerel, Guray Saydam
PNH Education and Study Group (PESG) have been established in December 2013 as a non-profit, independent, medical organization Paroxysmal Nocturnal Hemoglobinuria (PNH) is a multi-systemic disease that should be treated with a multidisciplinary approach. Patients may apply to the clinics other than the hematology due to variability and diversity of clinical findings which lower the rate of diagnosis due to low awareness about PNH. PNH might be overlooked and diagnosis might be delayed. Regarding these, PESG was established with the collaboration of Immunology, Cardiology, Thorax Diseases (Pulmonology), Neurology, Gastroenterology, General Surgery and Urology specialists in addition to hematologists dealing with PNH...
2016: American Journal of Blood Research
Fatimah Al-Ani, Ian Chin-Yee, Alejandro Lazo-Langner
Paroxysmal nocturnal hemoglobinuria (PNH) is a nonmalignant clonal disorder resulting from somatic mutation in the PIG-A gene leading to a deficiency of the membrane-anchoring molecule glycosylphosphatidylinositol. The lack of expression of two glycosylphosphatidylinositol-anchored proteins involved in the regulation of the complement system renders PNH erythrocytes susceptible to complement-mediated lysis. Clinical manifestations include thromboembolic disease, chronic kidney injury, pulmonary hypertension, smooth muscle dysfunction, and chronic hemolysis...
2016: Therapeutics and Clinical Risk Management
Koji Sasaki, Uday Popat, Preetesh Jain, Tapan Kadia, Krina Patel, Keyur Patel, Nitin Jain, Koichi Takahashi, Ken Young, Roberto N Miranda, Thein H Oo, Huifang Lu, Naveen Pemmaraju
We report the first patient case of successful treatment intervention for both eosinophilic fasciitis and aplastic anemia with allogeneic peripheral blood stem cell transplantation from a matched unrelated donor after multiple immunosuppressant failure.
August 2016: Clinical Case Reports
Anna-Luisa Volk, Francis Jingxin Hu, Magnus M Berglund, Erik Nordling, Patrik Strömberg, Mathias Uhlen, Johan Rockberg
The complement component 5 (C5)-binding antibody eculizumab is used to treat patients with paroxysmal nocturnal hemoglobinuria (PNH) and atypical haemolytic uremic syndrome (aHUS). As recently reported there is a need for a precise classification of eculizumab responsive patients to allow for a safe and cost-effective treatment. To allow for such stratification, knowledge of the precise binding site of the drug on its target is crucial. Using a structural epitope mapping strategy based on bacterial surface display, flow cytometric sorting and validation via haemolytic activity testing, we identified six residues essential for binding of eculizumab to C5...
2016: Scientific Reports
Guillaume Brachet, Thomas Bourquard, Nathalie Gallay, Eric Reiter, Valérie Gouilleux-Gruart, Anne Poupon, Hervé Watier
Eculizumab is an anti-complement C5 monoclonal antibody which has greatly improved the prognosis and outcomes of nocturnal paroxysmal hemoglobinuria and atypical hemolytic and uremic syndromes. It is also known to be very species-specific for human C5, despite an important degree of conservation of the targeted macroglobulin domain, MG7, with that of other primates. However, the published eculizumab linear epitope does not explain this species specificity. Sequence analysis, in silico docking and reverse phase protein array were implemented to fully characterize the eculizumab epitope on human complement C5...
September 2016: Molecular Immunology
Tanapol Phondeechareon, Methichit Wattanapanitch, Yaowalak U-Pratya, Chanapa Damkham, Nuttha Klincumhom, Chanchao Lorthongpanich, Pakpoom Kheolamai, Chuti Laowtammathron, Surapol Issaragrisil
Paroxysmal nocturnal hemoglobinuria (PNH) is an acquired hemolytic anemia caused by lack of CD55 and CD59 on blood cell membrane leading to increased sensitivity of blood cells to complement. Hematopoietic stem cell transplantation (HSCT) is the only curative therapy for PNH, however, lack of HLA-matched donors and post-transplant complications are major concerns. Induced pluripotent stem cells (iPSCs) derived from patients are an attractive source for generating autologous HSCs to avoid adverse effects resulting from allogeneic HSCT...
October 2016: Annals of Hematology
Haruhiko Ninomiya, Naoshi Obara, Shigeru Chiba, Kensuke Usuki, Kaichi Nishiwaki, Itaru Matsumura, Tsutomu Shichishima, Shinichiro Okamoto, Jun-Ichi Nishimura, Kazuma Ohyashiki, Shinji Nakao, Kiyoshi Ando, Yoshinobu Kanda, Tatsuya Kawaguchi, Hideki Nakakuma, Daisuke Harada, Hirozumi Akiyama, Taroh Kinoshita, Keiya Ozawa, Mitsuhiro Omine, Yuzuru Kanakura
Data characterizing the safety and effectiveness of eculizumab in patients with paroxysmal nocturnal hemoglobinuria (PNH) are limited. We describe the safety and effectiveness of eculizumab in PNH patients enrolled in a post-marketing surveillance study. Types and frequencies of observed adverse events were similar to those reported in previous clinical trials and no meningococcal infection was reported. Effectiveness outcomes included the reduction of intravascular hemolysis, the change in hemoglobin (Hb) level, the withdrawal of transfusion and corticosteroids, the change of renal function, and overall survival...
July 27, 2016: International Journal of Hematology
Kaveh Vahdani, Georgios Makrygiannis, Harikesh Kaneshyogan, Inderpaul S Sian, Osama Giasin
PURPOSE: To report a case of acute bilateral central serous retinopathy associated with deferoxamine therapy in the context of paroxysmal nocturnal hemoglobinuria. METHODS: Spectral-domain optical coherence tomography and fundus autofluorescence were used to investigate posterior segment changes. RESULTS: A 76-year-old man with paroxysmal nocturnal hemoglobinuria and hereditary spherocytosis was started on deferoxamine for iron overload secondary to previous blood transfusions...
July 18, 2016: European Journal of Ophthalmology
Allen O Applegate, Vanessa C Fong, Kara Tardivel, Susan A Lippold, Sheilah Zarate
On June 2, 2015, CDC was notified that a male airline passenger, aged 41 years, with a fever of 105.4°F, headache, nausea, photophobia, diarrhea, and vomiting, which began approximately 3 hours after departure, was arriving to San Francisco, California, on a flight from Frankfurt, Germany. His symptoms reportedly started with neck stiffness 1 day earlier. Upon arrival, the patient was immediately transported to a local hospital, where he was in septic shock, which was followed by multisystem organ failure...
2016: MMWR. Morbidity and Mortality Weekly Report
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