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PNH Paroxysmal Nocturnal Hemoglobinuria

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https://www.readbyqxmd.com/read/29327071/diseases-of-complement-dysregulation-an-overview
#1
REVIEW
Edwin K S Wong, David Kavanagh
Atypical hemolytic uremic syndrome (aHUS), C3 glomerulopathy (C3G), and paroxysmal nocturnal hemoglobinuria (PNH) are prototypical disorders of complement dysregulation. Although complement overactivation is common to all, cell surface alternative pathway dysregulation (aHUS), fluid phase alternative pathway dysregulation (C3G), or terminal pathway dysregulation (PNH) predominates resulting in the very different phenotypes seen in these diseases. The mechanism underlying the dysregulation also varies with predominant acquired autoimmune (C3G), somatic mutations (PNH), or inherited germline mutations (aHUS) predisposing to disease...
January 11, 2018: Seminars in Immunopathology
https://www.readbyqxmd.com/read/29323198/paroxysmal-nocturnal-hemoglobinuria-pnh-brain-mri-ischemic-lesions-in-neurologically-asymtomatic-patients
#2
Wilma Barcellini, Elisa Scola, Silvia Lanfranconi, Marika Grottaroli, Francesca Binda, Bruno Fattizzo, Anna Zaninoni, Gloria Valcamonica, Claudia Maria Cinnante, Carla Boschetti, Massimiliano Buoli, Carlo Alfredo Altamura, Nereo Bresolin, Fabio Triulzi, Alberto Zanella, Agostino Cortelezzi
This study investigated for the first time brain ischemic involvement in 19 consecutive neurologically asymptomatic PNH patients by non-enhanced cerebral MRI, and by intracranial arterial and venous angio-MRI. Eleven cases (58%, 7 aged <65) showed pathological findings: 9 white matter (WM) abnormalities related to chronic ischemic small vessel disease, 2 a focal abnormality >5 mm, and 5 cases a score >4 by the age-related white matter changes (ARWMC) scale. Compared with age and sex-matched controls (1:2 ratio), patients showed an increased frequency of periventricular WM vascular degeneration (32% versus 5...
January 11, 2018: Scientific Reports
https://www.readbyqxmd.com/read/29314145/toward-complement-inhibition-2-0-next-generation-anti-complement-agents-for-paroxysmal-nocturnal-hemoglobinuria
#3
Antonio M Risitano, Serena Marotta
Therapeutic complement inhibition by eculizumab has revolutionized the treatment of paroxysmal nocturnal hemoglobinuria (PNH) with a major impact on its natural history. Nevertheless, emerging unmet clinical needs may benefit from the development of novel complement inhibitors. Novel strategies of complement inhibition exploit different agents targeting C5, as well as compound intercepting the complement cascade at the level of its key component C3, or even upstream at the level of components involved in complement alternative pathway initiation...
January 4, 2018: American Journal of Hematology
https://www.readbyqxmd.com/read/29296844/potential-impact-of-complement-regulator-deficiencies-on-hemolytic-reactions-due-to-minor-abo-mismatched-transfusions
#4
Priyanka Pandey, Waseem Q Anani, Jerome L Gottschall, Gregory A Denomme
Minor ABO-mismatched transfusions are a common occurrence, although infrequent transfusion reactions occur. We sought to investigate the regulation of complement C3 activation induced by anti-A. In vitro complement C3 activation was observed with 10 of 30 group O samples and correlated with immunoglobulin M (IgM) anti-A titers. We developed an in vitro paroxysmal nocturnal hemoglobinuria (PNH) model of hemolysis in which group A1 red blood cells (RBCs) were chemically treated with 2-aminoethylisothiouronium (AET) to alter regulators of complement C3 activation...
October 24, 2017: Blood Advances
https://www.readbyqxmd.com/read/29251828/iccs-escca-consensus-guidelines-for-the-flow-cytometric-testing-for-patients-with-suspected-paroxysmal-nocturnal-hemoglobinuria-pnh-validation-and-quality-assurance-part-4
#5
Oldaker Teri, Liam Whitby, Maryam Saber, Jeannine Holden, Wallace Paul K, Virginia Litwin
Over the past six years, a diverse group of stakeholders have put forth recommendations regarding the analytical validation of flow cytometric methods and described in detail the differences between cell-based and traditional soluble analyte assay validations. This manuscript is based on these general recommendations as well as the published experience of experts in the area of PNH testing. The goal is to provide practical assay-specific guidelines for the validation of high-sensitivity flow cytometric PNH assays...
December 18, 2017: Cytometry. Part B, Clinical Cytometry
https://www.readbyqxmd.com/read/29249231/hemoglobinuric-acute-kidney-injury-in-a-patient-with-a-kinked-prosthetic-aortic-graft%C3%A2
#6
Hema V Sheelvanth, Khaleel A Sayeed, William A Whittier
Acute kidney injury (AKI) due to intravascular hemolysis has been well described in paroxysmal nocturnal hemoglobinuria (PNH) and in cardiac valvular dysfunction. However, reported cases of hemoglobinuric AKI from prosthetic aortic grafts are sparse. We present a case of microangiopathic hemolytic anemia and hemoglobinuric AKI presenting 9 days after repair of an ascending aortic dissection with a prosthetic graft. After an unremarkable recovery following the initial procedure, the patient presented on postoperative day 9 with dyspnea, fatigue, and cola-colored urine...
December 18, 2017: Clinical Nephrology
https://www.readbyqxmd.com/read/29236353/iccs-escca-consensus-guidelines-for-the-high-sensitivity-flow-cytometric-detection-of-paroxysmal-nocturnal-hemoglobinuria-pnh-part-2-assay-optimization-and-reagent-selection
#7
EDITORIAL
D Robert Sutherland, Andrea Illingworth, Iuri Marinov, Fernando Ortiz, John Andreasen, Dan Payne, Paul K Wallace, Michael Keeney
Since publication in 2010 of the International Clinical Cytometry Society (ICCS) Consensus Guidelines for detection of Paroxysmal nocturnal hemoglobinuria (PNH) by flow cytometery, a great deal of work has been performed to develop, optimize and validate a number of high-sensitivity assays to detect PNH phenotypes in both Red Blood Cells (RBCs) and White Blood Cells (WBCs, neutrophils and monocytes). This section (Part 2) of the updated ICCS PNH Consensus Guidelines will focus on specific instrument setup for these PNH assays, the identification and proper testing of appropriate antibody conjugates and combinations therof, and basic assay design...
December 13, 2017: Cytometry. Part B, Clinical Cytometry
https://www.readbyqxmd.com/read/29236352/iccs-escca-consensus-guidelines-for-the-clinical-utility-of-testing-for-gpi-anchor-deficient-clones-in-paroxysmal-nocturnal-hemoglobinuria-pnh-and-other-bone-marrow-disorders-part-1
#8
Amy E Dezern, Michael J Borowitz
Paroxysmal nocturnal hemoglobinuria (PNH) arises as a consequence of the non-malignant clonal expansion of one or more hematopoietic stem cells with an acquired somatic mutation of the PIGA gene.(1) Progeny of affected stem cells are deficient in glycosyl phosphatidylinositol-anchored proteins (GPI-APs). This deficiency is readily detected by flow cytometry. Though this seems straightforward, the clinical utility of this testing requires that the ordering clinician understand not only the characteristics of the test, but also the biology of the underlying disease, and the clinical and laboratory manifestations in the individual patient...
December 13, 2017: Cytometry. Part B, Clinical Cytometry
https://www.readbyqxmd.com/read/29236350/iccs-escca-consensus-guidelines-to-detect-gpi-deficient-cells-in-paroxysmal-nocturnal-hemoglobinuria-pnh-and-related-disorders-part-3-data-analysis-reporting-and-case-studies
#9
Andrea Illingworth, Iuri Marinov, D Robert Sutherland, Orianne Wagner Ballon, Luigi DelVecchio
Over the past several years, a diverse group of physicians and other laboratory scientists have developed various recommendations and guidelines regarding best practices for PNH testing. This manuscript is based on these previous recommendations as well as various other relevant publications of experts in the area of PNH testing. The goal is to provide flow cytometry laboratories with an updated consensus approach to analysis and reporting of PNH results and to address the most common analytical challenges for accurate reporting of this rare disease...
December 13, 2017: Cytometry. Part B, Clinical Cytometry
https://www.readbyqxmd.com/read/29214126/pharmacologic-complement-inhibition-in-clinical-transplantation
#10
REVIEW
Vasishta S Tatapudi, Robert A Montgomery
Purpose of Review: Over the past two decades, significant strides made in our understanding of the etiology of antibody-mediated rejection (AMR) in transplantation have put the complement system in the spotlight. Here, we review recent progress made in the field of pharmacologic complement inhibition in clinical transplantation and aim to understand the impact of this therapeutic approach on outcomes in transplant recipients. Recent Findings: Encouraged by the success of agents targeting the complement cascade in disorders of unrestrained complement activation like paroxysmal nocturnal hemoglobinuria (PNH) and atypical hemolytic uremic syndrome (aHUS), investigators are testing the safety and efficacy of pharmacologic complement blockade in mitigating allograft injury in conditions ranging from AMR to recurrent post-transplant aHUS, C3 glomerulopathies and antiphospholipid anti-body syndrome (APS)...
2017: Current Transplantation Reports
https://www.readbyqxmd.com/read/29190926/polymorphism-of-the-abo-gene-associate-with-thrombosis-risk-in-patients-with-paroxysmal-nocturnal-hemoglobinuria
#11
Zhangbiao Long, Yali Du, Hongmin Li, Bing Han
Thrombosis is one of the most common causes of mortality in Paroxysmal nocturnal hemoglobinuria (PNH), but the predisposing factors for thrombosis are yet to be defined. In this study, we outline the clinical characters and the susceptible genes which lead to thrombotic formation in 104 patients with PNH. The results displayed that the genotypes with minor alleles of rs495828 or rs2519093 in the ABO gene were associated with high risk to thrombus formation (OR 5.95, 95% CI 1.90-18.65 and OR 6.3, 95% CI 2.01-19...
November 3, 2017: Oncotarget
https://www.readbyqxmd.com/read/29147590/paroxysmal-nocturnal-hemoglobinuria-in-pregnancy-a-dilemma-in-treatment-and-thromboprophylaxis
#12
Arpan Patel, Athira Unnikrishnan, Martina Murphy, Robert Egerman, Sarah Wheeler, Ashley Richards, John Wingard
Paroxysmal nocturnal hemoglobinuria (PNH) is a hematologic disorder characterized by an acquired somatic mutation in the phosphatidylinositol glycan class A gene which leads to a higher risk for increased venous and arterial thrombosis. Current treatment for PNH includes eculizumab. Pregnant patients who have PNH have higher risk for thrombosis and hemorrhage with both pregnancy and their underlying PNH. Treatment frequently poses conundrum. The safety and efficacy of eculizumab during pregnancy and breast feeding have not been extensively studied and contraception has been recommended due to potential for teratogenicity...
2017: Case Reports in Hematology
https://www.readbyqxmd.com/read/29138283/frequency-of-and-reasons-for-paroxysmal-nocturnal-haemoglobinuria-screening-in-patients-with-unexplained-anaemia
#13
James T England, Bakul Dalal, Heather A Leitch
Referral to hematology for anemia is common. In paroxysmal nocturnal hemoglobinuria (PNH), cells deficient in the glycosylphosphatidyl inositol (GPI) anchor are lysed by complement. Eculizumab improves overall survival and quality of life while reducing hemolysis, transfusion requirements, and thrombosis. We evaluated the frequency of screening for PNH in patients with unexplained anemia. Key clinical features, laboratory data, and investigations were recorded for patients referred for anemia since 2010, without a specific cause found...
November 14, 2017: Journal of Clinical Pathology
https://www.readbyqxmd.com/read/29128072/paroxysmal-nocturnal-hemoglobinuria-assessment-by-flow-cytometric-analysis
#14
REVIEW
Mike Keeney, Andrea Illingworth, D Robert Sutherland
Paroxysmal nocturnal hemoglobinuria (PNH) is an uncommon but frequently debilitating disease that, if untreated, may lead to death in up to 35% of patients within 5 years. Assessment of PNH clone size by flow cytometric analysis has increased in importance with the availability of therapeutic treatments, which prevent the hemolysis of red blood cells and, hence, the myriad symptoms that accompany the disease. This article addresses flow cytometric methodologies and highlights areas of importance in implementing testing, not only for classic PNH but also for other related bone marrow failure disorders, such as aplastic anemia and low-grade myelodysplastic syndrome...
December 2017: Clinics in Laboratory Medicine
https://www.readbyqxmd.com/read/29075054/diagnosis-of-paroxysmal-nocturnal-hemoglobinuria-recent-advances
#15
REVIEW
Prabhu Manivannan, Ankur Ahuja, Hara Prasad Pati
Paroxysmal nocturnal hemoglobinuria (PNH) is an acquired clonal hematopoietic stem cell disorder with its protean clinical manifestations. This is due to partial or complete absence of 'glycophosphatidyl-inositol-anchor proteins' (GPI-AP). The main aim of this review is to highlight various diagnostic modalities available, basic principle of each test and recent advances in the diagnosis of PNH. Recently among various tests available, the flow cytometry has become 'the gold standard' for PNH testing. In order to overcome the difficulties encountered by the testing and research laboratories throughout the world, International Clinical Cytometry Society has come up with guidelines regarding the indications for testing, protocol for sample collection, processing, panel of antibodies as well as gating strategies to be used, how to interpret the test and reporting format to be used...
December 2017: Indian Journal of Hematology & Blood Transfusion
https://www.readbyqxmd.com/read/29043236/efficacy-of-eculizumab-in-paroxysmal-nocturnal-hemoglobinuria-patients-with-or-without-aplastic-anemia-prospective-study-of-a-korean-pnh-cohort
#16
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 PNH registry. Patients were categorized into two groups: PNH patients with concurrent AA (PNH/AA, N=27) and without AA (classic PNH, N=19)...
September 2017: Blood Research
https://www.readbyqxmd.com/read/29021487/severe-infection-of-pseudomonas-aeruginosa-during-eculizumab-therapy-for-paroxysmal-nocturnal-hemoglobinuria
#17
Toru Kawakami, Hideyuki Nakazawa, Yukifumi Kurasawa, Hitoshi Sakai, Sayaka Nishina, Noriko Senoo, Yasushi Senoo, Fumihiro Ishida
Eculizumab is the complement inhibitor administered to ameliorate intravascular hemolysis in paroxysmal nocturnal hemoglobinuria (PNH). Whether or not the inhibitory mechanism may also increase the susceptibility to non-Neisserial infection is unclear. A 73-year old woman presented with bacteremia, cholecystitis and liver abscess with Pseudomonas aeruginosa. Although she had been neutropenic for 21 years, she had no history of severe infection before eculizumab had been administered. The infection with P. aeruginosa was successfully controlled with antibiotics, granulocyte colony-stimulating factor and cholecystectomy...
October 11, 2017: Internal Medicine
https://www.readbyqxmd.com/read/28958970/hemolytic-anemia-iron-deficiency-and-personal-history-of-deep-vein-thrombosis-consider-paroxysmal-nocturnal-hemoglobinuria
#18
Nicolas Gendron, Jean-Benoit Arlet, Pascale Gaussem, Isabelle Radford-Weiss, Sidonie Dupeux, Jérémie Rosain, Régis Peffault de La Tour, Luc Darnige
Paroxysmal nocturnal hemoglobinuria (PNH) is a rare acquired hematopoietic stem cell disorder that must be correctly diagnose because it is a chronic disease with a real impact on the quality of life and the survival of the patients. PNH screening of all patients with anemia or thrombosis is not recommended. We report the case of a 71-year-old male patient referred for chronic anemia. Anemia work-up revealed a misunderstood association of a hemolytic anemia with a negative direct antiglobulin test and iron deficiency...
October 1, 2017: Annales de Biologie Clinique
https://www.readbyqxmd.com/read/28918528/signaling-of-the-complement-cleavage-product-anaphylatoxin-c5a-through-c5ar-cd88-contributes-to-pharmacological-hematopoietic-stem-cell-mobilization
#19
Kamila Bujko, Sylwia Rzeszotek, Kai Hoehlig, Jun Yan, Axel Vater, Mariusz Z Ratajczak
Several mechanisms have been postulated for orchestrating the mobilization of hematopoietic stem/progenitor cells (HSPCs), and we previously proposed that activation of the complement cascade plays a crucial role in the initiation and execution of the egress of HSPCs from bone marrow (BM) into peripheral blood (PB). In support of this notion, we demonstrated that mice deficient in the mannan-binding lectin (MBL) pathway, which activates the proximal part of the complement cascade, as well as mice deficient in the fifth component of the complement cascade (C5), which is part of the distal part of the complement cascade, are poor mobilizers...
September 16, 2017: Stem Cell Reviews
https://www.readbyqxmd.com/read/28811010/distinct-clinical-characteristics-of-paroxysmal-nocturnal-hemoglobinuria-in-patients-in-southern-taiwan-a-multicenter-investigation
#20
Hui-Ching Wang, Ching-Yuan Kuo, I-Ting Liu, Tsai-Yun Chen, Yu-Hsiang Chang, Shyh-Jer Lin, Shih-Feng Cho, Yi-Chang Liu, Ta-Chih Liu, Sheng-Fung Lin, Chao-Sung Chang
Paroxysmal nocturnal hemoglobinuria (PNH) is an extremely rare acquired disorder. The aim of this study was to investigate the demographics, clinical manifestations, and outcomes of PNH patients in southern Taiwan. Data on PNH patients diagnosed over a 30-year period (1985-2015) were retrospectively collected from four tertiary medical centers in southern Taiwan. Blood samples were collected for hematologic panel testing and flow cytometry detection of PNH clones. Radiologic studies were performed to assess the frequency of complications...
August 2017: Kaohsiung Journal of Medical Sciences
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