3,944 results match your criteria Paroxysmal Nocturnal Hemoglobinuria


Abdominal Surgical Emergencies in Patients with Hematological Disorders: An Exacting Experience for Surgeons.

Cureus 2019 Feb 5;11(2):e4017. Epub 2019 Feb 5.

General Surgery, Christian Medical College Hospital, Vellore, IND.

Management of surgical emergencies in patients with underlying hematological disorder is challenging due to increased incidence of peri-operative morbidity. We report two cases of abdominal surgical emergencies with pre-existing hematological conditions. The first case report is that of a patient diagnosed with pelvic abscess in a previously diagnosed case of Glanzmann's thrombasthenia and the second is a case of intestinal infarction previously diagnosed with paroxysmal nocturnal hemoglobinuria (PNH). Read More

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http://dx.doi.org/10.7759/cureus.4017DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6453618PMC
February 2019

Design, synthesis and pre-clinical characterization of selective Factor D inhibitors targeting the alternative complement pathway.

J Med Chem 2019 Apr 17. Epub 2019 Apr 17.

Complement Factor D (FD), a highly specific S1 serine protease, plays a central role in the amplification of the alternative complement pathway (AP) of the innate immune system. Dysregulation of AP activity predisposes individuals to diverse disorders such as age-related macular degeneration (AMD), atypical hemolytic uremic syndrome (aHUS), membranoproliferative glomerulonephritis type II (MPGNII) and paroxysmal nocturnal hemoglobinuria (PNH). Previously, we have reported the screening efforts and identification of reversible benzylamine-based FD inhibitors (1 and 2) binding to the open active conformation of FD. Read More

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http://dx.doi.org/10.1021/acs.jmedchem.9b00271DOI Listing

Gene mutations associated with thrombosis detected by whole-exome sequencing in paroxysmal nocturnal hemoglobinuria.

Int J Lab Hematol 2019 Apr 10. Epub 2019 Apr 10.

Department of Hematology, Tianjin Medical University General Hospital, Tianjin, China.

Background: Thrombosis is a most common and lethal complication of paroxysmal nocturnal hemoglobinuria (PNH), which is a complex progression and its mechanism remains unclear. We tried to explore the possible genetic background of thrombosis in PNH patients and provide potential gene mutations associated with thrombosis in PNH patients.

Methods: The CD59 cells of 7 PNH and 6 PNH- aplastic anemia (AA) patients were sorted by flow cytometry and sequenced by whole-exome sequencing (WES). Read More

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http://dx.doi.org/10.1111/ijlh.13018DOI Listing
April 2019
1 Read

Small-molecule factor B inhibitor for the treatment of complement-mediated diseases.

Proc Natl Acad Sci U S A 2019 Apr 29;116(16):7926-7931. Epub 2019 Mar 29.

Novartis Institutes for BioMedical Research, Novartis Pharma AG, CH-4056 Basel, Switzerland;

Dysregulation of the alternative complement pathway (AP) predisposes individuals to a number of diseases including paroxysmal nocturnal hemoglobinuria, atypical hemolytic uremic syndrome, and C3 glomerulopathy. Moreover, glomerular Ig deposits can lead to complement-driven nephropathies. Here we describe the discovery of a highly potent, reversible, and selective small-molecule inhibitor of factor B, a serine protease that drives the central amplification loop of the AP. Read More

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http://dx.doi.org/10.1073/pnas.1820892116DOI Listing
April 2019
1 Read

[Aggressive natural killer cell leukemia: study of a case occurred in Africa and literature review].

Pan Afr Med J 2018 13;31:28. Epub 2018 Sep 13.

Service d'Hématologie CHU Mohammed VI, Marrakech, Maroc.

Aggressive natural killer cell leukemia (ANKL) is a disease entity within the spectrum of lymphoproliferative syndromes of NK cells. It is rare, preferentially affecting Asiatic people. It has been very rarely reported in the African population; hence the interest of our case. Read More

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http://dx.doi.org/10.11604/pamj.2018.31.28.16360DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6430943PMC

Outcomes of paroxysmal nocturnal hemoglobinuria in the pediatric age group in a resource-constrained setting.

Pediatr Blood Cancer 2019 Mar 26:e27712. Epub 2019 Mar 26.

Department of Hematology, All India Institute of Medical Sciences, New Delhi, India.

Paroxysmal nocturnal hemoglobinuria (PNH) is a rare acquired clonal stem cell disorder. Eculizumab and bone marrow transplantation are disease-modifying treatments for PNH but may not be readily available in resource-constrained settings. Of 52 pediatric patients with PNH, 20 had classical PNH and 32 had PNH/aplastic anemia (PNH/AA). Read More

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http://dx.doi.org/10.1002/pbc.27712DOI Listing
March 2019
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The Extended Use of Eculizumab in Pregnancy and Complement Activation⁻Associated Diseases Affecting Maternal, Fetal and Neonatal Kidneys-The Future Is Now?

J Clin Med 2019 Mar 24;8(3). Epub 2019 Mar 24.

Department of Obstetrics and Gynecology, Helsinki University and Helsinki University Hospital, Haartmaninkatu 2, 00290 Helsinki, Finland.

Excessive complement activation is involved in the pathogenesis of many diseases and the kidney is an organ with particular susceptibility to complement-mediated injury. Apart from paroxysmal nocturnal hemoglobinuria (PNH) and atypical hemolytic uremic syndrome (aHUS), there are several other diseases with clear evidence of complement activation affecting both maternal and fetal kidneys during pregnancy and causing long-term adverse outcomes. Several novel drugs have been recently developed for blocking the complement cascade, including purified plasma proteins, new monoclonal antibodies, recombinant proteins, small molecules, and small interfering RNA agents. Read More

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https://www.mdpi.com/2077-0383/8/3/407
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http://dx.doi.org/10.3390/jcm8030407DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6463259PMC
March 2019
7 Reads

Aplastic Anemia & MDS International Foundation (AA&MDSIF): Bone Marrow Failure Disease Scientific Symposium 2018.

Leuk Res 2019 May 20;80:19-25. Epub 2019 Mar 20.

Hematology Unit, IRCSS, Istituto Giannina Gaslini, Via Gerolamo Gaslini, 5, 16147, Genoa, Italy. Electronic address:

The bone marrow failure (BMF) syndromes are a group of rare disorders characterized by ineffective hematopoiesis resulting from deficiencies in the hematopoietic stem cell compartment. Although these diseases are typically acquired, some forms (e.g. Read More

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http://dx.doi.org/10.1016/j.leukres.2019.03.003DOI Listing
May 2019
2 Reads

Donath-Landsteiner test.

Immunohematology 2019 Jan;35(1):3-6

Medical Director of Donor Services, Associate Medical Director of Transfusion Medicine, Houston Methodist Hospital, Department of Pathology and Genomic Medicine, 6565 Fannin Street, MS 205, Houston, TX.

Conclusions: The Donath-Landsteiner (DL) test is a serologic test used to detect the presence of a biphasic hemolysin. This autoantibody is seen in patients with paroxysmal cold hemoglobinuria. The test relies on the characteristic cold binding of an IgG autoantibody with specificity to the P blood group antigen. Read More

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January 2019
10 Reads

Development of hemolytic paroxysmal nocturnal hemoglobinuria without graft loss following hematopoietic stem cell transplantation for acquired aplastic anemia.

Pediatr Transplant 2019 Mar 22:e13393. Epub 2019 Mar 22.

Division of Hematology, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.

PNH is the most common clonal hematopoietic disorder arising in patients with aAA. PNH is caused by mutations in PIGA, a gene that encodes the catalytic subunit of an enzyme involved in the biosynthesis of GPI anchors, transmembrane glycolipids required for cell surface expression of many proteins. PNH clones likely arise as immune escape mechanisms in aAA by preventing CD1D-restricted T-cell recognition of GPI anchors and GPI-linked autoantigens. Read More

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https://onlinelibrary.wiley.com/doi/abs/10.1111/petr.13393
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http://dx.doi.org/10.1111/petr.13393DOI Listing
March 2019
5 Reads

Autosplenectomy in a Patient with Paroxysmal Nocturnal Hemoglobinuria (PNH).

Case Rep Hematol 2019 12;2019:3146965. Epub 2019 Feb 12.

Houston Methodist Hospital, Department of Medicine, 6550 Fannin St, Houston, TX 77030, USA.

Autosplenectomy (AS) is a known complication of diseases such as sickle cell anemia, celiac disease, and inflammatory bowel disease. We report the first known case of AS due to paroxysmal nocturnal hemoglobinuria (PNH). A 24-year-old Caucasian male had evidence of hemolytic anemia at the age of 14 and was diagnosed with PNH at the age of 16. Read More

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http://dx.doi.org/10.1155/2019/3146965DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6390241PMC
February 2019
5 Reads

Features, reason for testing, and changes with time of 583 paroxysmal nocturnal hemoglobinuria clones from 529 patients: a multicenter Italian study.

Ann Hematol 2019 May 13;98(5):1083-1093. Epub 2019 Mar 13.

CEINGE Biotecnologie Avanzate, Naples, Italy.

In this study, we aimed at disclosing the main features of paroxysmal nocturnal hemoglobinuria (PNH) clones, their association with presentation syndromes, and their changes during follow-up. A large-scale, cooperative collection (583 clones from 529 patients) of flow cytometric and clinical data was entered into a national repository. Reason for testing guidelines were provided to the 41 participating laboratories, which followed the 2010 technical recommendations for PNH testing by Borowitz. Read More

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http://dx.doi.org/10.1007/s00277-019-03644-8DOI Listing
May 2019
3 Reads

Paroxysmal Nocturnal Hemoglobinuria with a Distinct Molecular Signature Diagnosed Ten Years after Allogenic Bone Marrow Transplantation for Acute Myeloid Leukemia.

Case Rep Hematol 2019 5;2019:8928623. Epub 2019 Feb 5.

Department of Clinical Hematology, Troyes General Hospital, 10000 Troyes, France.

Paroxysmal nocturnal hemoglobinurea (PNH) is a rare disorder of complement regulation due to somatic mutation of PIGA (phosphatidylinositol glycan anchor) gene. We herewith report a case who developed a symptomatic PNH long after an allogenic marrow transplant. Some reasonable arguments concerning the origin of PNH clone have been discussed. Read More

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https://www.hindawi.com/journals/crihem/2019/8928623/
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http://dx.doi.org/10.1155/2019/8928623DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6379860PMC
February 2019
3 Reads

Excellent Outcomes of Allogeneic Hematopoietic Stem Cell Transplantation in Patients with Paroxysmal Nocturnal Hemoglobinuria: A Single-Center Study.

Biol Blood Marrow Transplant 2019 Mar 8. Epub 2019 Mar 8.

Key Laboratory of Thrombosis and Hemostasis of Ministry of Health, Collaborative Innovation Center of Hematology, The First Affiliated Hospital of Soochow University, Jiangsu Institute of Hematology, Suzhou, China. Electronic address:

We analyzed the outcomes of 44 patients with paroxysmal nocturnal hemoglobinuria (PNH) who received allogeneic hematopoietic stem cell transplantation (allo-HSCT) (haploidentical [haplo]-donors, 25; matched sibling donors [MSDs], 15; and matched unrelated donors, 4) between July 2007 and May 2018. All patients achieved successful donor engraftment. The median time was 12 days (range, 7 to 26) for myeloid engraftment and 13 days (range, 11 to 75) for platelets. Read More

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http://dx.doi.org/10.1016/j.bbmt.2019.02.024DOI Listing
March 2019
1 Read

[Meningococcal sepsis without cerebrospinal fluid abnormalities under treatment with eculizumab].

Med Klin Intensivmed Notfmed 2019 Mar 8. Epub 2019 Mar 8.

Interdisziplinäre internistische Intensivstation, Universitätsklinikum Leipzig, Liebigstraße 20, 04103, Leipzig, Deutschland.

Infections with Neisseria meningitidis are life-threatening conditions, generally presenting as meningitis. This case of a young woman who had a history of paroxysmal nocturnal hemoglobinuria under treatment with the complement inhibitor eculizumab had been presented with septic shock. While blood cultures were positive for Neisseria meningitidis, she showed no evidence for bacterial meningitis in the cerebrospinal fluid. Read More

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http://dx.doi.org/10.1007/s00063-019-0552-0DOI Listing
March 2019
4 Reads

Diagnostic and Treatment Challenges of Paroxysmal Nocturnal Hemoglobinuria in Uganda.

Case Rep Hematol 2019 31;2019:7897509. Epub 2019 Jan 31.

Department of Internal Medicine, Mbarara University of Science and Technology (MUST), Mbarara, Uganda.

Introduction: Paroxysmal nocturnal hemoglobinuria (PNH) is a very rare disorder of the hematopoietic stem cells which is often underdiagnosed. Its incidence is about 5 cases per million inhabitants in a year, and currently, there are only 1610 patients in the International PNH Registry. In this report, we describe a case of PNH in southwestern Uganda. Read More

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http://dx.doi.org/10.1155/2019/7897509DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6374880PMC
January 2019
1 Read

Differential miRNA expression profile and proteome in plasma exosomes from patients with paroxysmal nocturnal hemoglobinuria.

Sci Rep 2019 Mar 5;9(1):3611. Epub 2019 Mar 5.

Servicio de Hematología y Oncología Médica, Hospital Universitario Morales Meseguer, Centro Regional de Hemodonación, Universidad de Murcia, IMIB-Arrixaca, Murcia, Spain.

Paroxysmal Nocturnal Hemoglobinuria (PNH) is a clonal disease of blood cells caused by the lack of glycosyl phosphatidyl inositol anchored proteins bound to the cell membrane. In consequence, erythrocytes lead to intravascular hemolysis upon complement activation, which promotes high risk of thrombosis, intravascular hemolytic anemia, and bone marrow failure in patients. The mechanisms of thrombosis in PNH are still poorly understood. Read More

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http://dx.doi.org/10.1038/s41598-019-40453-5DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6401143PMC
March 2019
2 Reads

Pharmaceutical Approval Update.

P T 2019 Mar;44(3):108-144

Inbrija (levodopa inhalation powder) for oral inhalation for the treatment of "off" episodes in Parkinson's disease; Ultomiris (ravulizumab) injection for treating adults with paroxysmal nocturnal hemoglobinuria; and Yupelri (revefenacin) inhalation solution for the maintenance treatment of patients with COPD. Read More

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6385732PMC
March 2019
1 Read

[Hemolytic disorders and venous thrombosis: An update].

Rev Med Interne 2019 Apr 14;40(4):232-237. Epub 2019 Feb 14.

Service de médecine interne, CHU de Nantes, 1, place Alexis-Ricordeau, 44093 Nantes, France. Electronic address:

Many factors can contribute to the risk of venous thrombosis observed in hemolytic diseases. Some mechanisms are related to hemolysis by itself, while others seem more specific to each disease. Despite recent advances in the quantification of this risk and in understanding its physiopathology, the association of hemolysis with venous thrombosis is often unknown. Read More

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http://dx.doi.org/10.1016/j.revmed.2018.10.387DOI Listing
April 2019
1 Read

Pharmacology, Pharmacokinetics and Pharmacodynamics of Eculizumab, and Possibilities for an Individualized Approach to Eculizumab.

Clin Pharmacokinet 2019 Feb 13. Epub 2019 Feb 13.

Department of Pharmacy, Radboud University Medical Center, Nijmegen, The Netherlands.

Eculizumab is the first drug approved for the treatment of complement-mediated diseases, and current dosage schedules result in large interindividual drug concentrations. This review provides insight into the pharmacokinetic and pharmacodynamic properties of eculizumab, both for reported on-label (paroxysmal nocturnal hemoglobinuria, atypical hemolytic uremic syndrome, generalized myasthenia gravis) and off-label (hematopoietic stem cell transplantation-associated thrombotic microangiopathy) indications. Furthermore, we discuss the potential of therapeutic drug monitoring to individualize treatment and reduce costs. Read More

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http://link.springer.com/10.1007/s40262-019-00742-8
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http://dx.doi.org/10.1007/s40262-019-00742-8DOI Listing
February 2019
5 Reads

Hematopoietic Cell Transplantation for Paroxysmal Nocturnal Hemoglobinuria in the Age of Eculizumab.

Biol Blood Marrow Transplant 2019 Feb 1. Epub 2019 Feb 1.

Clinical Research Division, Fred Hutchinson Cancer Research Center, Seattle, Washington; Division of Medical Oncology, Department of Medicine, University of Washington School of Medicine, Seattle, Washington. Electronic address:

Paroxysmal nocturnal hemoglobinuria (PNH) is a rare, acquired clonal hematopoietic cell disease characterized by the destruction of hematopoietic cells through activation of the complement system with manifestations that can be life-threatening including hemolysis, thrombosis, and marrow failure. Allogeneic hematopoietic cell transplantation (HCT) remains the sole cure for PNH, but eculizumab, a terminal complement inhibitor of C5, has been used to prevent complement-mediated hemolysis in patients with PNH since its approval by the Food and Drug Administration in 2007. We examined outcomes of HCT in patients with PNH to evaluate the effects of disease subtype, conditioning intensity, and eculizumab use either pre-HCT or post-HCT. Read More

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http://dx.doi.org/10.1016/j.bbmt.2019.01.033DOI Listing
February 2019
3 Reads

Post-Allogeneic Hematopoietic Stem Cell Transplantation Eculizumab as Prophylaxis Against Hemolysis and Thrombosis for Patients with Hematologic Disorders Associated with Paroxysmal Nocturnal Hemoglobinuria Clones.

Biol Blood Marrow Transplant 2019 Jan 29. Epub 2019 Jan 29.

Department of Hematology and Hematopoietic Cell Transplantation, City of Hope, Duarte, California; Department of Hematology and Hematopoietic Cell Transplantation, Gehr Family Center for Leukemia Research, City of Hope, Duarte, California.

Paroxysmal nocturnal hemoglobinuria (PNH) is frequently seen in the context of other aplastic anemia and myelodysplastic syndromes and is associated with hemolysis and increased thromboembolic events. Allogeneic hematopoietic stem cell transplantation (alloHCT) is the sole curative treatment but is associated with significant morbidity. The terminal complement inhibitor eculizumab reduces hemolysis and thromboembolic events and is the sole Food and Drug Administration-approved therapy for PNH. Read More

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http://dx.doi.org/10.1016/j.bbmt.2019.01.025DOI Listing
January 2019
6 Reads

Hematopoietic stem cell transplantation with alpha/beta T-lymphocyte depletion and short course of eculizumab in adolescents and young adults with paroxysmal nocturnal hemoglobinuria.

Ter Arkh 2018 Aug;90(7):57-64

Dmitry Rogachev National Research Center of Pediatric Hematology, Oncology and Immunology, Department of optimization treatment and prevention of complications of hematopoietic stem cell transplantation, Moscow, Russia.

Aim: The main goal is to optimize hematopoietic stem cell transplantation (HSCT) approach among adolescents and young adults with paroxysmal nocturnal hemoglobinuria (PNH) by means of Graft-versus-host disease (GVHD) and post-transplant complications risk lowering.

Materials And Methods: We report our experience of HSCT from HLA-matched unrelated donors using TCR alfa/beta and CD19 depletion in 5 pts (1M/4F) with PNH, developed after successful immunosuppressive therapy (IST) of acquired aplastic anemia (AA). Median age of pts at the moment of transplantation was 17,8 years (range 14,5-22,7), median interval from IST to PNH was 4 years (5mo - 6,5 y). Read More

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http://dx.doi.org/10.26442/terarkh201890757-64DOI Listing
August 2018
5 Reads

Abdominal pain in combination with an unexplained hemolytic anemia are crucial signs to test for paroxysmal nocturnal hemoglobinuria: A case report.

Clin Case Rep 2019 Jan 4;7(1):175-179. Epub 2018 Dec 4.

Department of Clinical Chemistry Albert Schweitzer Hospital Dordrecht The Netherlands.

Paroxysmal nocturnal hemoglobinuria (PNH), a rare benign hematological disorder, presents with a wide variety of clinical symptoms. A direct Coombs-negative hemolytic anemia combined with an increased LDH = Lactate dehydrogenase level are signs to test for PNH. Follow-up does not need any microscopic review's only flow cytometric PNH clone size. Read More

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http://dx.doi.org/10.1002/ccr3.1771DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6333074PMC
January 2019
2 Reads

Fatigue, symptom burden, and health-related quality of life in patients with myelodysplastic syndrome, aplastic anemia, and paroxysmal nocturnal hemoglobinuria.

Cancer Med 2019 Feb 11;8(2):543-553. Epub 2019 Jan 11.

Department of Leukemia, The University of Texas MD Anderson Cancer Center, Houston, Texas.

Background: Fatigue is distressing and affects quality of life (QoL) among patients with myelodysplastic syndrome (MDS), aplastic anemia (AA), and paroxysmal nocturnal hemoglobinuria (PNH). Limited data exist on the impact of fatigue, QoL, and related symptoms in these patients.

Objective: Prospectively assess fatigue (functional assessment of cancer therapy-anemia [FACT-An]); QoL (FACT-An subscales); pain (brief pain inventory); and depression, anxiety, and stress (depression anxiety stress scale-21) and strategies used to manage these symptoms in patients with MDS, AA, and PNH. Read More

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http://doi.wiley.com/10.1002/cam4.1953
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http://dx.doi.org/10.1002/cam4.1953DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6382725PMC
February 2019
14 Reads

Detection of paroxysmal nocturnal hemoglobinuria (PNH) in bone marrow aspirates.

Semin Hematol 2019 01 27;56(1):65-68. Epub 2018 May 27.

Department of Laboratory Medicine, Hematology Section, National Institutes of Health Clinical Center, Bethesda, MD.

Paroxysmal nocturnal hemoglobinuria (PNH) is an acquired condition in which, due to a mutation of the phosphatidylinositol glycan class A gene, hematopoietic cells lack proteins that are normally anchored to the cell surface by glycosylphosphatidylinositol (GPI). Thus, PNH cells show poor expression of surface proteins, such as CD55 and CD59, and dim or absent binding of fluorescently labeled modified aerolysin (FLAER). In clinical diagnostic laboratories, the detection and quantitation of PNH is currently performed by flow cytometry (FC) analysis of peripheral blood (PB) samples. Read More

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http://dx.doi.org/10.1053/j.seminhematol.2018.05.011DOI Listing
January 2019
3 Reads

Renal involvement in paroxysmal nocturnal haemoglobinuria: a brief review of the literature.

Rev Assoc Med Bras (1992) 2018 Dec;64(12):1139-1146

Post-graduation Program in Medical Sciences, Department of Internal Medicine, School of Medicine, Federal University of Ceará, Fortaleza, CE, Brasil.

Introduction: Paroxysmal Nocturnal Haemoglobinuria (PNH) is an acquired genetic disorder characterized by complement-mediated haemolysis, thrombosis and variable cytopenias. Renal involvement may occur and causes significant morbidity to these patients.

Objective: To review the literature about pathophysiology and provide recommendations on diagnosis and management of renal involvement in PNH. Read More

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http://dx.doi.org/10.1590/1806-9282.64.12.1139DOI Listing
December 2018
3 Reads

CHAPLE syndrome uncovers the primary role of complement in a familial form of Waldmann's disease.

Authors:
Ahmet Ozen

Immunol Rev 2019 Jan;287(1):20-32

Division of Allergy and Immunology, Marmara University School of Medicine, Istanbul, Turkey.

Primary intestinal lymphangiectasia (PIL) or Waldmann's disease was described in 1961 as an important cause of protein-losing enteropathy (PLE). PIL can be the sole finding in rare individuals or occur as part of a multisystemic genetic syndrome. Although genetic etiologies of many lymphatic dysplasia syndromes associated with PIL have been identified, the pathogenesis of isolated PIL (with no associated syndromic features) remains unknown. Read More

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http://dx.doi.org/10.1111/imr.12715DOI Listing
January 2019
3 Reads

A Single-Domain Antibody Targeting Complement Component C5 Acts as a Selective Inhibitor of the Terminal Pathway of the Complement System and Thus Functionally Mimicks the C-Terminal Domain of the SSL7 Protein.

Front Immunol 2018 29;9:2822. Epub 2018 Nov 29.

Department of Molecular Biology and Genetics, Aarhus University, Aarhus, Denmark.

The complement system is an efficient anti-microbial effector mechanism. On the other hand abnormal complement activation is involved in the pathogenesis of multiple inflammatory and hemolytic diseases. As general inhibition of the complement system may jeopardize patient health due to increased susceptibility to infections, the development of pathway-specific complement therapeutics has been a long-lasting goal over the last decades. Read More

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http://dx.doi.org/10.3389/fimmu.2018.02822DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6281825PMC
November 2018
4 Reads

Paroxysmal Cold Hemoglobinuria in an Adult with Respiratory Syncytial Virus.

Case Rep Hematol 2018 13;2018:7586719. Epub 2018 Nov 13.

Division of Hematology and Medical Oncology, Department of Medicine, Mount Sinai Beth Israel, Mount Sinai Hospital, New York, NY, USA.

Paroxysmal cold hemoglobinuria (PCH) is a rare form of cold autoimmune hemolytic anemia first discovered in the early 20th century in adults with tertiary syphilis. Today, it is more commonly seen in children as a life-threatening anemia during a viral upper respiratory tract infection (URI). Although respiratory syncytial virus (RSV) has previously been reported to cause PCH in a child, herein we present the first documented case in an adult. Read More

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http://dx.doi.org/10.1155/2018/7586719DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6257899PMC
November 2018
16 Reads

A brief, but comprehensive, guide to clonal evolution in aplastic anemia.

Authors:
Daria V Babushok

Hematology Am Soc Hematol Educ Program 2018 11;2018(1):457-466

Division of Hematology-Oncology, Department of Medicine, Hospital of the University of Pennsylvania, Philadelphia, PA; and.

Acquired aplastic anemia (AA) is an immune-mediated bone marrow aplasia that is strongly associated with clonal hematopoiesis upon marrow recovery. More than 70% of AA patients develop somatic mutations in their hematopoietic cells. In contrast to other conditions linked to clonal hematopoiesis, such as myelodysplastic syndrome (MDS) or clonal hematopoiesis of indeterminate potential in the elderly, the top alterations in AA are closely related to its immune pathogenesis. Read More

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http://dx.doi.org/10.1182/asheducation-2018.1.457DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6245980PMC
November 2018
13 Reads

Anticoagulating patients with high-risk acquired thrombophilias.

Authors:
Leslie Skeith

Hematology Am Soc Hematol Educ Program 2018 11;2018(1):439-449

Division of Hematology and Hematological Malignancies, Departments of Medicine and Community Health Sciences, University of Calgary, Calgary, Canada; and Clinical Epidemiology Program, Ottawa Hospital Research Institute, Ottawa, Canada.

Antiphospholipid syndrome (APS), heparin-induced thrombocytopenia, and paroxysmal nocturnal hemoglobinuria are 3 acquired thrombophilias that carry a high risk of venous and arterial thromboembolism. Management of these conditions has largely included anticoagulation with a vitamin K antagonist after an initial period of a parenteral anticoagulant, for as long as the thrombotic risk is still present. The available evidence for the use of direct oral anticoagulants (DOACs) is limited and primarily consists of case series and cohort studies, which are summarized in this chapter. Read More

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http://dx.doi.org/10.1182/asheducation-2018.1.439DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6246016PMC
November 2018
4 Reads

Complement-driven anemia: more than just paroxysmal nocturnal hemoglobinuria.

Hematology Am Soc Hematol Educ Program 2018 11;2018(1):371-376

Division of Hematology, Department of Medicine, Johns Hopkins University School of Medicine, Baltimore, MD.

Atypical hemolytic uremic syndrome (aHUS); hemolysis, elevated liver function tests, and low platelets syndrome; and transplant-associated thrombotic microangiopathy are related conditions, in that many patients harbor germline heterozygous mutations in genes that regulate the alternative pathway of complement (APC). Penetrance is variable because development of clinically significant disease appears to require supervention of a process such as inflammation. Complement activation on the endothelial surfaces leads to endothelial damage, platelet consumption, microthrombi, and a mechanical hemolytic anemia with schistocytes. Read More

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http://dx.doi.org/10.1182/asheducation-2018.1.371DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6245985PMC
November 2018
3 Reads

Moyamoya Syndrome Caused by Paroxysmal Nocturnal Hemoglobinuria.

Chin Med J (Engl) 2018 Dec;131(23):2874-2876

Department of Neurology, The Second Affiliated Hospital of Nanchang University, Nanchang, Jiangxi 330006, China.

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http://dx.doi.org/10.4103/0366-6999.246065DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6278181PMC
December 2018
2 Reads

Ravulizumab (ALXN1210) vs eculizumab in adult patients with PNH naive to complement inhibitors: the 301 study.

Blood 2019 Feb 3;133(6):530-539. Epub 2018 Dec 3.

Department of Haematology, Leeds Teaching Hospitals, Leeds, United Kingdom.

Ravulizumab (ALXN1210), a new complement C5 inhibitor, provides immediate, complete, and sustained C5 inhibition. This phase 3, open-label study assessed the noninferiority of ravulizumab to eculizumab in complement inhibitor-naive adults with paroxysmal nocturnal hemoglobinuria (PNH). Patients with lactate dehydrogenase (LDH) ≥1. Read More

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http://dx.doi.org/10.1182/blood-2018-09-876136DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6367644PMC
February 2019
5 Reads

Ravulizumab (ALXN1210) vs eculizumab in C5-inhibitor-experienced adult patients with PNH: the 302 study.

Blood 2019 Feb 3;133(6):540-549. Epub 2018 Dec 3.

Bone Marrow Transplantation Unit, Saint Louis Hospital, Assistance Publique-Hôpitaux de Paris, Paris, France.

Ravulizumab, a new complement component C5 inhibitor administered every 8 weeks, was noninferior to eculizumab administered every 2 weeks in complement-inhibitor-naive patients with paroxysmal nocturnal hemoglobinuria (PNH). This study assessed noninferiority of ravulizumab to eculizumab in clinically stable PNH patients during previous eculizumab therapy. In this phase 3, open-label, multicenter study, 195 PNH patients on labeled-dose (900 mg every 2 weeks) eculizumab for >6 months were randomly assigned 1:1 to switch to ravulizumab (n = 97) or continue eculizumab (n = 98). Read More

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http://dx.doi.org/10.1182/blood-2018-09-876805DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6368201PMC
February 2019
8 Reads
10.452 Impact Factor

[Purpura fulminans related to paroxysmal nocturnal haemoglobinuria: a case report and literatures review].

Zhonghua Xue Ye Xue Za Zhi 2018 Nov;39(11):921-926

Department of Hematology, Peking Union Medical College Hospital, CAMS & PUMC, Beijing 100730, China.

To improve the understanding of the rare clinical presentation and management of purpura fulminans (PF) in patients with paroxysmal nocturnal haemoglobinuria (PNH). A case of PF occurring in PNH is reported, while the related literature review is conducted. A 49-year-old male patient suffered from one-week history of fever, greenish-brown colour urine, multiple well demarcated and painful purpura of the head and neck. Read More

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http://dx.doi.org/10.3760/cma.j.issn.0253-2727.2018.11.010DOI Listing
November 2018
2 Reads

[Efficacy and safety of haploidentical hematopoietic stem cell transplantation for 17 patients with paroxysmal nocturnal hemamoglobinuria].

Zhonghua Xue Ye Xue Za Zhi 2018 Nov;39(11):904-907

Jiangsu Institute of Hematology, Department of Hematology, the First Affiliated Hospital of Soochow University, Key Lab of Thrombosis and Hemostasis of Ministry of Health, Suzhou 215006, China.

To explore the efficacy and safety of haploidentical hematopoietic stem cell transplantation (Haplo-HSCT) for paroxysmal nocturnal hemoglobinuria (PNH). A total of 17 patients with PNH who received Haplo-HSCT from January 2013 to September 2017 were analyzed retrospectively. Of them, 4 patients had de novo PNH, 13 patients had aplastic anemia-PNH syndrome (AA-PNH). Read More

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http://dx.doi.org/10.3760/cma.j.issn.0253-2727.2018.11.006DOI Listing
November 2018
4 Reads

[How I diagnose and treat paroxysmal nocturnal hemoglobinuria].

Authors:
R Fu

Zhonghua Xue Ye Xue Za Zhi 2018 Nov;39(11):887-891

Tianjin Medical University General Hospital, Tianjin 300052, China.

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http://dx.doi.org/10.3760/cma.j.issn.0253-2727.2018.11.002DOI Listing
November 2018
2 Reads

Paroxysmal nocturnal hemoglobinuria testing in patients with myelodysplastic syndrome in clinical practice-frequency and indications.

Curr Oncol 2018 10 31;25(5):e391-e397. Epub 2018 Oct 31.

Division of Hematology, St. Paul's Hospital and the University of British Columbia, Vancouver, BC.

Background: Myelodysplastic syndrome (mds) is characterized by peripheral blood cytopenias, with most patients developing significant anemia and dependence on red blood cell (rbc) transfusion. In paroxysmal nocturnal hemoglobinuria (pnh), mutations in the gene lead to lack of cell-surface glycosylphosphatidylinositol, allowing complement-mediated lysis to occur. Paroxysmal nocturnal hemoglobinuria results in direct antiglobulin test-negative hemolysis and cytopenias, and up to 50% of patients with mds test positive for pnh cells. Read More

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http://dx.doi.org/10.3747/co.25.4018DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6209566PMC
October 2018
13 Reads

Anticoagulating patients with high-risk acquired thrombophilias.

Authors:
Leslie Skeith

Blood 2018 Nov;132(21):2219-2229

Division of Hematology and Hematological Malignancies, Departments of Medicine and Community Health Sciences, University of Calgary, Calgary, Canada; and Clinical Epidemiology Program, Ottawa Hospital Research Institute, Ottawa, Canada.

Antiphospholipid syndrome (APS), heparin-induced thrombocytopenia, and paroxysmal nocturnal hemoglobinuria are 3 acquired thrombophilias that carry a high risk of venous and arterial thromboembolism. Management of these conditions has largely included anticoagulation with a vitamin K antagonist after an initial period of a parenteral anticoagulant, for as long as the thrombotic risk is still present. The available evidence for the use of direct oral anticoagulants (DOACs) is limited and primarily consists of case series and cohort studies, which are summarized in this chapter. Read More

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http://dx.doi.org/10.1182/blood-2018-05-848697DOI Listing
November 2018
2 Reads

Comparison of High Sensitivity and Conventional Flow Cytometry for Diagnosing Overt Paroxysmal Nocturnal Hemoglobinuria and Detecting Minor Paroxysmal Nocturnal Hemoglobinuria Clones.

Ann Lab Med 2019 Mar;39(2):150-157

Department of Laboratory Medicine, University of Ulsan College of Medicine, Ulsan University Hospital, Ulsan, Korea.

Background: High sensitivity flow cytometry (HS-FCM) was recently developed for diagnosing paroxysmal nocturnal hemoglobinuria (PNH). We compared its performance with conventional flow cytometry (C-FCM) for diagnosing overt PNH and detecting minor (0.1-1%) PNH clones in aplastic anemia (AA)/low-grade myelodysplastic syndrome (MDS) patients. Read More

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http://dx.doi.org/10.3343/alm.2019.39.2.150DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6240522PMC
March 2019
11 Reads

The economic burden of malignant and premalignant hematological diseases in Southern Nigeria.

Niger J Clin Pract 2018 Nov;21(11):1396-1402

Department of Haematology, Chukwuemeka Odumegwu Ojukwu Teaching Hospital, Awka, Anambra, Nigeria.

Background: Hematological malignancies are a significant cause of morbidity and mortality. They constitute an economic burden for the patients, their relatives, and the society because of the cost associated with their management, which is usually long term. We aimed to determine the total direct cost of managing patients with premalignant hematological disorders (PMHDs) and malignant hematological disorders (MHDs). Read More

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http://dx.doi.org/10.4103/njcp.njcp_278_18DOI Listing
November 2018
17 Reads

Hemosiderin tubulopathy-induced acute kidney injury - A rare initial manifestation of paroxysmal nocturnal hemoglobinuria.

Saudi J Kidney Dis Transpl 2018 Sep-Oct;29(5):1232-1236

Department of Pathology, Kasturba Medical College, Manipal Academy of Higher Education, Manipal, Udupi, Karnataka, India.

Paroxysmal nocturnal hemoglobinuria (PNH) is characterized by episodes of intravascular hemolysis, infections, and thromboembolic complications. Renal abnormalities are rare which occur either due to hemolytic crisis or repeated thrombotic episodes involving small venules. Acute kidney injury (AKI) requiring hemodialysis due to toxic effects of hemoglobinuria, with a stable disease is exceptional. Read More

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http://dx.doi.org/10.4103/1319-2442.243958DOI Listing
November 2018
16 Reads

Effectiveness of eculizumab in patients with paroxysmal nocturnal hemoglobinuria (PNH) with or without aplastic anemia in the International PNH Registry.

Am J Hematol 2019 Jan 25;94(1):E37-E41. Epub 2018 Nov 25.

Department of Translational Hematology and Oncology Research, Taussig Cancer Institute, Cleveland Clinic, Cleveland, Ohio.

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http://doi.wiley.com/10.1002/ajh.25334
Publisher Site
http://dx.doi.org/10.1002/ajh.25334DOI Listing
January 2019
30 Reads

[Network references for rare diseases: state of the art for the paroxysmal nocturnal hemoglobinuria].

Epidemiol Prev 2018 Sep-Dec;42(5-6):333-343

Dipartimento di sanità pubblica, Azienda ospedaliero-universitaria "Federico II", Napoli;

Background: recently, healthcare network models have been proposed to improve general awareness of rare diseases for patients and specific knowledge about diagnosis, treatment, and management for healthcare services. Paroxysmal nocturnal hemoglobinuria (PNH) is a rare haematological disease that still has no framing in an official network.

Objectives: to describe the use of network models in diagnosis, treatment, and management of PNH patients both in Italy and abroad and its impact on patients and healthcare service. Read More

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http://dx.doi.org/10.19191/EP18.5-6.P333.102DOI Listing
October 2018
4 Reads

Complement activation by human red blood cell antibodies: hemolytic potential of antibodies and efficacy of complement inhibitors assessed by a sensitive flow cytometric assay.

Transfusion 2018 12 27;58(12):2992-3002. Epub 2018 Oct 27.

Institute of Clinical Transfusion Medicine and Immunogenetics Ulm, German Red Cross Blood Service Baden-Württemberg - Hessen and University Hospital, Ulm, Germany.

Background: Therapeutic intervention strategies in complement-mediated hemolytic diseases are still inappropriate, and lethal events cannot be reliably prevented. As an in vitro model of intravascular hemolysis, a sensitive flow cytometric assay was designed using red blood cells (RBCs) of patients with paroxysmal nocturnal hemoglobinuria (PNH) as target cells. Complement activation by human allo- and autoantibodies directed against RBC antigens and the effect of different complement inhibitors were studied. Read More

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http://doi.wiley.com/10.1111/trf.14893
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http://dx.doi.org/10.1111/trf.14893DOI Listing
December 2018
16 Reads