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https://www.readbyqxmd.com/read/28728504/the-diverse-expression-of-the-wt1-gene-in-patients-with-acquired-bone-marrow-failure-syndromes
#1
Yahong You, Jiali Huo, Shihong Lu, Yingqi Shao, Meili Ge, Jun Shi, Xingxin Li, Jinbo Huang, Zhendong Huang, Jing Zhang, Min Wang, Neng Nie, Yizhou Zheng
Acquired bone marrow failure syndromes (aBMFS) encompass a wide range of diseases. A study to investigate WT1 expression in BM was conducted in 387 patients with aBMFS in China. The WT1 level in patients with aplastic anemia (AA) was significantly lower than that in patients with paroxysmal nocturnal hemoglobinuria (PNH, p = .023) and myelodysplastic syndrome (MDS, p < .001). In addition, the WT1 level in patients with MDS significantly increased as the disease progressed to an advanced stage. Patients with hypoplastic MDS had a differentiated expression level of WT1 compared with that of NSAA (p < ...
July 21, 2017: Leukemia & Lymphoma
https://www.readbyqxmd.com/read/28698856/the-first-case-of-paroxysmal-nocturnal-hemoglobinuria-and-budd-chiari-syndrome-treated-with-complement-inhibitor-eculizumab-in-korea
#2
Hyerim Kim, In-Suk Kim, Su-Hee Cho, Hyun Ji Lee, Chulhun L Chang, Ki Tae Yoon
No abstract text is available yet for this article.
June 2017: Blood Research
https://www.readbyqxmd.com/read/28692147/persisting-hyperbilirubinemia-in-patients-with-paroxysmal-nocturnal-hemoglobinuria-pnh-chronically-treated-with-eculizumab-the-role-of-hepatocanalicular-transporter-variants
#3
Ferras Alashkar, Susanne N Weber, Colin Vance, Dörte Herich-Terhürne, Ulrich Dührsen, Frank Lammert, Alexander Röth
BACKGROUND: Eculizumab treated PNH patients (pts) show a dramatic decrease in serum LDH activities and bilirubin concentrations. However, some pts remain hyperbilirubinemic, possibly indicating an inadequate response due to extravascular hemolysis. METHODS: Mutation analyses of hepatocanalicular transporter/nuclear receptor variants (ABCB4, ABCB11, ATP8B1, NR1H4) were performed in eight (5/8 males; mean age 38 yrs (range 26-68 yrs)) out of the 174 pts with PNH/-clone at our department due to a persistent increase in total bilirubin concentrations (median 3...
July 10, 2017: European Journal of Haematology
https://www.readbyqxmd.com/read/28675769/outcomes-of-allogeneic-stem-cell-transplantation-in-patients-with-paroxysmal-nocturnal-hemoglobinuria-with-or-without-aplastic-anemia
#4
Sung-Eun Lee, Sung Soo Park, Young-Woo Jeon, Jae-Ho Yoon, Byung-Sik Cho, Ki-Sung Eom, Yoo-Jin Kim, Seok Lee, Chang-Ki Min, Hee-Je Kim, Seok-Goo Cho, Dong-Wook Kim, Woo-Sung Min, Jong Wook Lee
OBJECTIVE: The aim of this study was to evaluate the long-term outcomes of allogeneic stem cell transplantation (SCT) in patients with paroxysmal nocturnal hemoglobinuria (PNH) with or without aplastic anemia (AA). METHOD: A total of 33 patients with PNH clones who underwent allogeneic SCT were analyzed. RESULTS: After a median follow-up of 57 months (range, 6.0-151.3), the 5-year estimated overall survival rate was 87.9 ± 5.7%. Four patients died of transplant-related mortality (TRM)...
July 4, 2017: European Journal of Haematology
https://www.readbyqxmd.com/read/28646725/eculizumab-decreases-the-procoagulant-activity-of-extracellular-vesicles-in-paroxysmal-nocturnal-hemoglobinuria-a-pilot-prospective-longitudinal-clinical-study
#5
Adeline Wannez, Bérangère Devalet, Céline Bouvy, Julie Laloy, Benoit Bihin, Bernard Chatelain, Christian Chatelain, Jean-Michel Dogné, François Mullier
INTRODUCTION: Paroxysmal nocturnal hemoglobinuria (PNH) is a disease characterized by the susceptibility of blood cells to attack by the complement system, inducing extracellular vesicle (EV) production. Thromboembolism is the leading cause of death in this condition. Eculizumab, a humanized monoclonal antibody which inhibits the C5 protein of the complement, reduces the thrombotic risk in PNH. MATERIALS AND METHOD: We conducted a pilot, prospective, open-label, longitudinal clinical study with six PNH patients treated with eculizumab...
June 9, 2017: Thrombosis Research
https://www.readbyqxmd.com/read/28630122/eculizumab-blocks-vaccine-induced-opsonophagocytic-killing-of-meningococci-by-whole-blood-from-immunized-adults
#6
Monica Konar, Dan M Granoff
Eculizumab, a humanized anti-complement C5 monoclonal antibody for treatment of paroxysmal nocturnal hemoglobinuria (PNH) and atypical hemolytic uremic syndrome, blocks the terminal complement pathway required for serum bactericidal activity (SBA). Because treated patients are at >1000-fold increased risk of meningococcal disease, vaccination is recommended, but whether vaccination can protect by opsonophagocytic activity in the absence of SBA is not known. Meningococci were added to anticoagulated blood from 12 healthy adults vaccinated with meningococcal serogroup B and serogroup A,C,W,Y vaccines...
June 19, 2017: Blood
https://www.readbyqxmd.com/read/28630090/t-cell-transcriptomes-from-paroxysmal-nocturnal-hemoglobinuria-patients-reveal-novel-signaling-pathways
#7
Kohei Hosokawa, Sachiko Kajigaya, Keyvan Keyvanfar, Wangmin Qiao, Yanling Xie, Danielle M Townsley, Xingmin Feng, Neal S Young
Paroxysmal nocturnal hemoglobinuria (PNH) is a rare acquired disorder originating from hematopoietic stem cells and is a life-threating disease characterized by intravascular hemolysis, bone marrow (BM) failure, and venous thrombosis. The etiology of PNH is a somatic mutation in the phosphatidylinositol glycan class A gene (PIG-A) on the X chromosome, which blocks synthesis of the glycolipid moiety and causes deficiency in GPI-anchored proteins. PNH is closely related to aplastic anemia, in which T cells mediate destruction of BM...
June 19, 2017: Journal of Immunology: Official Journal of the American Association of Immunologists
https://www.readbyqxmd.com/read/28629435/eculizumab-treatment-stochastic-occurrence-of-c3-binding-to-individual-pnh-erythrocytes
#8
Michela Sica, Tommaso Rondelli, Patrizia Ricci, Maria De Angioletti, Antonio M Risitano, Rosario Notaro
BACKGROUND: C5 blockade by eculizumab prevents complement-mediated intravascular hemolysis in paroxysmal nocturnal hemoglobinuria (PNH). However, C3-bound PNH red blood cells (RBCs), arising in almost all treated patients, may undergo extravascular hemolysis reducing clinical benefits. Despite the uniform deficiency of CD55 and of CD59, there are always two distinct populations of PNH RBCs, with (C3+) and without (C3-) C3 binding. METHODS: To investigate this paradox, the phenomenon has been modeled in vitro by incubating RBCs from eculizumab untreated PNH patients with compatible sera containing eculizumab, and by assessing the C3 binding after activation of complement alternative pathway...
June 19, 2017: Journal of Hematology & Oncology
https://www.readbyqxmd.com/read/28626543/cerebral-stroke-in-a-teenage-girl-with-paroxysmal-nocturnal-hemoglobinuria
#9
Francesco Gervasi, Lucia D'Amelio, Antonino Trizzino, Fabrizia Ferraro, Delia Russo, Giuseppe Santangelo, Francesca Cardella, Angela Trizzino, Floriana Di Marco, Piero Farruggia
We report a case of paroxysmal nocturnal hemoglobinuria (PNH) in a 14 year-old girl presenting a cerebral arterial thrombosis. The initial diagnosis was carential anemia due to menarche following identification of slight macrocytic anemia, leucopenia and mild thrombocytopenia at routine blood analysis. The child was eventually referred to a children's hospital after the onset of progressive fatigue, anorexia and paleness. Severe anemia (hemoglobin 6 g/dL) with negative Coombs test, mild leucopenia (white blood cells 4...
June 1, 2017: Hematology Reports
https://www.readbyqxmd.com/read/28622911/demyelination-strokes-and-eculizumab-lessons-from-the-congenital-cd59-gene-mutations
#10
Adi Tabib, Netanel Karbian, Dror Mevorach
Neurological symptoms of patients with p.Cys89Tyr mutation in the CD59 gene include recurrent peripheral neuropathy resembling Guillain-Barré syndrome, characterized by sensory-motor demyelinating neuropathy with secondary axonal damage and moderate enhancement of the nerve roots on spine MRI, together with recurrent strokes and retinal involvement. Three additional mutations in CD59, leading to loss of function, have been described, and overall, 12/12 (100%) of patients with any mutation presented with neurological symptoms; 11/12 (92%) patients presented with recurrent peripheral neuropathy, 6/12 (50%) with recurrent strokes, and 1/12 (8%) with retinal involvement...
June 13, 2017: Molecular Immunology
https://www.readbyqxmd.com/read/28621538/discovery-of-highly-potent-and-selective-small-molecule-reversible-factor-d-inhibitors-demonstrating-alternative-complement-pathway-inhibition-in-vivo
#11
Edwige Lorthiois, Karen Anderson, Anna Vulpetti, Olivier Rogel, Frederic Cumin, Nils Ostermann, Stefan Steinbacher, Aengus Mac Sweeney, Omar Delgado, Sha-Mei Liao, Stefan Randl, Simon Rüdisser, Solene Dussauge, Kamal Fettis, Laurence Kieffer, Andrea de Erkenez, Louis Yang, Constanze Hartwieg, Upendra A Argikar, Laura R La Bonte, Ronald Newton, Viral Kansara, Stefanie Flohr, Ulrich Hommel, Bruce Jaffee, Jürgen Maibaum
The highly specific S1 serine protease factor D (FD) plays a central role in the amplification of the complement alternative pathway (AP) of the innate immune system. Genetic associations in humans have implicated AP activation in age-related macular degeneration (AMD), and AP dysfunction predisposes individuals to disorders such as paroxysmal nocturnal hemoglobinuria (PNH) and atypical hemolytic uremic syndrome (aHUS). The combination of structure-based hit identification and subsequent optimization of the center (S)-proline-based lead 7 has led to the discovery of noncovalent reversible and selective human factor D (FD) inhibitors with drug-like properties...
June 30, 2017: Journal of Medicinal Chemistry
https://www.readbyqxmd.com/read/28602958/allogeneic-hematopoietic-cell-transplantation-using-treosulfan-based-conditioning-for-treatment-of-marrow-failure-disorders
#12
Lauri M Burroughs, Akiko Shimamura, Julie-An Talano, Jennifer Domm, Kelsey Baker, Colleen Delaney, Haydar Frangoul, David Margolis, K Scott Baker, Amy Geddis, Brenda M Sandmaier, H Joachim Deeg, Rainer Storb, Ann E Woolfrey
Hematopoietic cell transplantation (HCT) is effective in the treatment of inherited marrow failure disorders and other nonmalignant diseases. Conventional myeloablative conditioning regimens have been associated with high transplant-related mortality, particularly in patients with comorbid conditions. Here we report on 14 patients with marrow failure disorders (Shwachman-Diamond syndrome, n = 3; Diamond Blackfan anemia, n = 4; GATA2 deficiency, n = 2; paroxysmal nocturnal hemoglobinuria, n = 4; and an undefined marrow failure disorder, n = 1) who underwent HCT on a prospective, phase II, multicenter clinical trial...
June 7, 2017: Biology of Blood and Marrow Transplantation
https://www.readbyqxmd.com/read/28601118/determination-of-red-blood-cells-in-urinary-sediment-do-ph-and-specific-gravity-of-urine-matter
#13
Nuša Avguštin, Alexander Jerman, Žiga Rotar, Špela Borštnar, Andrej Škoberne, Jelka Lindič
INTRODUCTION: It has been postulated that erythrocyte cell lysis in urine is common in the case of low urine specific gravity and high urine pH. We aimed to verify the influence of urine dipstick pH and specific gravity on erythrocyturia in the urine sediment in the case of positive dipstick hemoglobinuria. METHODS: We retrospectively collected data on dipstick specific gravity, pH, and urine sediment analysis done by nephrologists in the clinical and research urine laboratory at the Department of Nephrology, University Medical Center Ljubljana...
June 9, 2017: Clinical Nephrology
https://www.readbyqxmd.com/read/28595228/-delayed-hemolytic-anemia-associated-with-anti-jk3-antibody-following-cardiovascular-surgery-report-of-a-case
#14
Takayuki Nishimoto, Yukihiro Bonkohara, Masaki Iijima
We report a 73-year-old man who underwent total aortic arch replacement with an open stent graft for aortic arch aneurysm. The patient received blood transfusion intraoperatively without any signs of hemolysis. However, on post-operative day 16, he developed hemoglobinuria, and was found to have anemia, elevated serum lactate dehydrogenase, elevated total bilirubin, and decreased serum haptoglobin. Initially, the cause for these findings was unknown. Upon further testing, however, antibodies against the high frequency antigen, anti-Jk3 was identified...
June 2017: Kyobu Geka. the Japanese Journal of Thoracic Surgery
https://www.readbyqxmd.com/read/28594143/kids-colds-and-complement-paroxysmal-cold-hemoglobinuria
#15
EDITORIAL
Laura L Cooling
No abstract text is available yet for this article.
June 2017: Transfusion
https://www.readbyqxmd.com/read/28574201/standardized-high-sensitivity-flow-cytometry-testing-for-paroxysmal-nocturnal-hemoglobinuria-in-children-with-acquired-bone-marrow-failure-disorders-a-single-center-us-study
#16
Rachel E Donohue, Andrea N Marcogliese, Ghadir S Sasa, M Tarek Elghetany, Alka A Redkar, Alison A Bertuch, Choladda V Curry
BACKGROUND: Paroxysmal nocturnal hemoglobinuria (PNH) is a rare, acquired hematopoietic stem cell disorder that has not been well-documented in children, particularly those with acquired bone marrow failure disorders (ABMFD)-acquired aplastic anemia (AAA) and myelodysplastic syndrome (MDS). Therefore, we sought to determine the prevalence of PNH populations in children with ABMFD. METHODS: PNH testing was performed in children with an ABMFD diagnosis using high sensitivity (≥0...
June 2, 2017: Cytometry. Part B, Clinical Cytometry
https://www.readbyqxmd.com/read/28527178/paroxysmal-nocturnal-hemoglobinuria-in-a-case-of-chronic-anemia
#17
Arun Agarwal, Aakanksha Agarwal, Mala Airun
No abstract text is available yet for this article.
April 2017: Journal of the Association of Physicians of India
https://www.readbyqxmd.com/read/28484166/molecular-genetics-biochemistry-and-biology-of-pnh
#18
Taroh Kinoshita
Paroxysmal nocturnal hemoglobinuria (PNH) manifests by clonal expansion of mutant hematopoietic stem cells (HSCs) bearing a somatic mutation in the X-linked PIGA gene. PIGA mutations cause defective biosynthesis of GPI and cell surface deficiency of GPI-anchored proteins such as DAF and CD59, leading to intravascular hemolysis and thrombosis. These two major symptoms of PNH can be controlled by eculizumab, an anti-C5 monoclonal antibody. Bone marrow failure, the third major symptom of PNH, is autoimmune-mediated and contributes to the clonal expansion of GPI-defective HSCs by selectively attacking GPI-positive wild-type HSCs...
2017: [Rinshō Ketsueki] the Japanese Journal of Clinical Hematology
https://www.readbyqxmd.com/read/28476858/mutating-a-conserved-cysteine-in-gpihbp1-reduces-amounts-of-gpihbp1-in-capillaries-and-abolishes-lpl-binding
#19
Christopher M Allan, Cris J Jung, Mikael Larsson, Patrick J Heizer, Yiping Tu, Norma P Sandoval, Tiffany Ly P Dang, Rachel S Jung, Anne P Beigneux, Pieter J de Jong, Loren G Fong, Stephen G Young
Mutation of conserved cysteines in proteins of the Ly6 family cause human disease-chylomicronemia in the case of glycosylphosphatidylinositol-anchored HDL binding protein 1 (GPIHBP1) and paroxysmal nocturnal hemoglobinuria in the case of CD59. A mutation in a conserved cysteine in CD59 prevented the protein from reaching the surface of blood cells. In contrast, mutation of conserved cysteines in human GPIHBP1 had little effect on GPIHBP1 trafficking to the surface of cultured CHO cells. The latter findings were somewhat surprising and raised questions about whether CHO cell studies accurately model the fate of mutant GPIHBP1 proteins in vivo...
July 2017: Journal of Lipid Research
https://www.readbyqxmd.com/read/28469373/the-use-of-next-generation-sequencing-in-the-identification-of-a-fastidious-pathogen-a-lesson-from-a-clinical-setup
#20
Amr Tm Saeb, Mohamed Abouelhoda, Manojkumar Selvaraju, Sahar I Althawadi, Maysoon Mutabagani, Mohammad Adil, Abdullah Al Hokail, Hamsa T Tayeb
Clostridium haemolyticum is the causal agent of bacillary hemoglobinuria in cattle, goat, sheep, and ruminants. In this study, we report the first recorded human-infecting C. haemolyticum strain collected from an 18-year-old woman diagnosed with acute lymphoblastic leukemia. After failure of traditional techniques, only next-generation sequencing (NGS) technology in combination with bioinformatics, phylogenetic, and pathogenomics analyses revealed that our King Faisal Specialist Hospital and Research Center (KFSHRC) bacterial isolate belongs to C...
2017: Evolutionary Bioinformatics Online
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