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hemolytic anemias

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https://www.readbyqxmd.com/read/29340837/exacerbation-of-autoimmune-hemolytic-anemia-induced-by-the-first-dose-of-programmed-death-1-inhibitor-pembrolizumab-a-case-report
#1
Kenta Ogawa, Jiro Ito, Daichi Fujimoto, Mari Morita, Yuko Yoshizumi, Koichi Ariyoshi, Keisuke Tomii, Nobuyuki Katakami
Immune checkpoint inhibitors (ICIs) have demonstrated efficacy against various types of cancers. In addition to immune-related adverse events (irAEs) induced by ICIs, exacerbation of baseline autoimmune disease has been occasionally reported. This is the first report of autoimmune hemolytic anemia (AIHA) exacerbated by pembrolizumab. An 82-year-old Japanese male was diagnosed with lung adenocarcinoma 2 years ago. The patient had chronic anemia with positive direct and indirect Coombs test prior to initiating pembrolizumab therapy at a nearby hospital...
January 16, 2018: Investigational New Drugs
https://www.readbyqxmd.com/read/29340523/a-case-of-severe-glutathione-synthetase-deficiency-with-novel-gss-mutations
#2
H Xia, J Ye, L Wang, J Zhu, Z He
Glutathione synthetase deficiency (GSSD) is a rare inborn error of glutathione metabolism with autosomal recessive inheritance. The severe form of the disease is characterized by acute metabolic acidosis, usually present in the neonatal period with hemolytic anemia and progressive encephalopathy. A case of a male newborn infant who had severe metabolic acidosis with high anion gap, hemolytic anemia, and hyperbilirubinemia is reported. A high level of 5-oxoproline was detected in his urine and a diagnosis of generalized GSSD was made...
January 11, 2018: Brazilian Journal of Medical and Biological Research, Revista Brasileira de Pesquisas Médicas e Biológicas
https://www.readbyqxmd.com/read/29340125/rare-presentation-of-refractory-thrombotic-thrombocytopenic-purpura-jejunal-stricture
#3
Prabath K Abeysundara, Inoshi Athukorala, K P C Dalpatadu, Karthiha Balendran, M D S A Dilrukshi, Gmo Fernando
Thrombotic thrombocytopenic purpura is a rare thrombotic disease characterized by episodes of thrombocytopenia and microangiopathic hemolytic anemia due to disseminated microvascular thrombosis. Thrombotic thrombocytopenic purpura was first described in 1924 by Moschowitz as a disease presenting with a pentad of signs and symptoms (anemia, thrombocytopenia, fever, hemiparesis and hematuria). Previous studies have described atypical manifestations of thrombotic thrombocytopenic purpura such as hemolysis, anemia and thrombosis...
October 1, 2017: International Journal of Hematology-oncology and Stem Cell Research
https://www.readbyqxmd.com/read/29338606/utility-of-mean-sphered-cell-volume-and-mean-reticulocyte-volume-for-the-diagnosis-of-hereditary-spherocytosis
#4
Rahul Darshan Arora, Jasmita Dass, Seema Maydeo, Vandana Arya, Jyoti Kotwal, Manorama Bhargava
INTRODUCTION: Hereditary spherocytosis (HS) is the most common congenital hemolytic anemia, characterized by anemia, jaundice, and splenomegaly. The diagnosis of HS relies on symptoms of hemolysis, a family history of HS, and a positive laboratory test which is usually the osmotic fragility test (OFT). We conducted a study to assess the utility of mean corpuscular hemoglobin concentration (MCHC), mean corpuscular volume (MCV), mean sphered cell volume (MSCV), and mean reticulocyte volume (MRV) in the diagnosis of HS and if these are helpful in distinguishing cases of HS from immune hemolytic anemia...
January 16, 2018: Hematology (Amsterdam, Netherlands)
https://www.readbyqxmd.com/read/29335897/splenectomy-in-systemic-lupus-erythematosus-and-autoimmune-hematologic-disease-a-comparative-analysis
#5
Nahim Barron, Jesús Arenas-Osuna, Gabriela Medina, María Pilar Cruz-Dominguez, Fernando González-Romero, José Arturo Velásques-García, Ernesto Alonso Ayala-López, Luis J Jara
The objective of the study is to analyze the efficacy and safety of splenectomy in the management of refractory autoimmune thrombocytopenia (AT)/autoimmune hemolytic anemia (AIHA) associated or not with systemic lupus erythematosus. Thirty-four patients after splenectomy due to severe AT and/or AIHA were divided into group 1 (G1) 18 SLE/APS patients: 9 AT/SLE patients, 6 SLE/antiphospholipid syndrome (APS), and 3 primary APS. Group 2 (G2): 16 patients without SLE/APS: 2 Fisher-Evans syndrome and 14 AIHA. Surgery approach when (1) platelets ≤ 50,000/ml despite 2 weeks on medical therapy, (2) medically dependent, and (3) medically intolerant or after two hemolytic crises in AIHA patients...
January 16, 2018: Clinical Rheumatology
https://www.readbyqxmd.com/read/29334337/durable-responses-in-refractory-autoimmune-hemolytic-anemia-with-alemtuzumab
#6
Renee K McAlister, Mahsa S Talbott, Nishitha M Reddy
Autoimmune hemolytic anemia occurs due to an interaction of IgG antibodies with protein antigens expressed on red blood corpuscles. Glucocorticoids are the mainstay of treatment for autoimmune hemolytic anemia. For patients not responding to initial therapy, other agents such as rituximab, immunosuppressive therapy, or splenectomy are considered. When refractory to these treatment options, alemtuzumab is an alternative agent. However, long-term outcomes of patients supporting its use are lacking. We present three patients with refractory autoimmune hemolytic anemia treated with alemtuzumab...
January 1, 2018: Journal of Oncology Pharmacy Practice
https://www.readbyqxmd.com/read/29331477/atypical-presentation-of-pregnancy-related-hemolytic-uremic-syndrome
#7
Salim Baghli, Catherine Abendroth, Umar Farooq, Jennifer A Schaub
The cause of acute kidney injury during pregnancy and in the postpartum period can be particularly challenging to diagnose, especially when it is necessary to differentiate among preeclampsia; eclampsia; hemolysis, elevated liver enzymes and low platelets (HELLP) syndrome; and thrombotic microangiopathies (TMAs). All these disease entities can present with kidney failure, microangiopathic hemolytic anemia, and thrombocytopenia. We present a teaching case of atypical hemolytic uremic syndrome in the postpartum period in a young woman who was found to have mutations of uncertain clinical significance in the complement cascade, including in C3, CFH, and CFI...
January 10, 2018: American Journal of Kidney Diseases: the Official Journal of the National Kidney Foundation
https://www.readbyqxmd.com/read/29330115/pediatric-onset-evans-syndrome-heterogeneous-presentation-and-high-frequency-of-monogenic-disorders-including-lrba-and-ctla4-mutations
#8
Caroline Besnard, Eva Levy, Nathalie Aladjidi, Marie-Claude Stolzenberg, Aude Magerus-Chatinet, Olivier Alibeu, Patrick Nitschke, Stéphane Blanche, Olivier Hermine, Eric Jeziorski, Judith Landman-Parker, Guy Leverger, Nizar Mahlaoui, Gérard Michel, Isabelle Pellier, Felipe Suarez, Isabelle Thuret, Geneviève de Saint-Basile, Capucine Picard, Alain Fischer, Bénédicte Neven, Frédéric Rieux-Laucat, Pierre Quartier
Evans syndrome (ES) is defined by the combination of autoimmune hemolytic anemia and immune thrombocytopenia. Clinical presentation includes manifestations of immune dysregulation, found in primary immune deficiencies, autoimmune lymphoproliferative syndrome with FAS (ALPS-FAS), Cytotoxic T Lymphocyte Antigen-4 (CTLA-4) and Lipopolysaccharide-Responsive vesicle trafficking Beige-like and Anchor protein (LRBA) defects. We report the clinical history and genetic results of 18 children with ES after excluding ALPS-FAS...
January 9, 2018: Clinical Immunology: the Official Journal of the Clinical Immunology Society
https://www.readbyqxmd.com/read/29325287/-the-diagnostic-value-and-limits-of-diagnostic-parameters-for-wilson-s-disease
#9
X Yang
Wilson disease (WD) is a rare and treatable genetic disorder. This paper describes the new advances and author's long-term experiences in the diagnosis of WD. The characteristics in clinical and routine tests are: the age of presentation can be quite broad, the WD could not be excluded based on age only; the patients usually have mild digestive symptoms but obvious chronic liver disease signs; liver function tests may reveal normal or a mild elevation in bilirubin, ALT and AST, but quite abnormal in serum albumin and prothrombin time in most patients; Coombs-negative hemolytic anemia, normal or markedly subnormal serum alkaline phosphatase (typically < 40 IU/L) are useful for the diagnosis of fulminant WD...
December 20, 2017: Zhonghua Gan Zang Bing za Zhi, Zhonghua Ganzangbing Zazhi, Chinese Journal of Hepatology
https://www.readbyqxmd.com/read/29314195/methylene-blue-induced-heinz-body-hemolytic-anemia-in-a-premature-neonate
#10
Lewis Vanhinsbergh, Sabita Uthaya, Barbara J Bain
No abstract text is available yet for this article.
January 5, 2018: American Journal of Hematology
https://www.readbyqxmd.com/read/29313481/case-report-severe-plasmodium-vivax-malaria-mimicking-sepsis-in-a-neonate
#11
Suryadi N N Tatura, Elizabeth Clarissa Wowor, Jose M Mandei, Rocky Wilar, Sarah M Warouw, Johnny Rompis, Priscilla Kalensang, Joseph Tuda
Severe congenital malaria associated with Plasmodium vivax is uncommon. In Indonesia, most congenital malaria cases are due to Plasmodium falciparum infections. Most cases of congenital or neonatal malaria in endemic areas are diagnosed from peripheral smear as part of routine sepsis workup. Differentiating congenital and acquired neonatal malaria is very difficult. The case presented in this study describes severe P. vivax malaria with cholestatic jaundice and sepsis-like signs and symptoms in neonates. The mother was asymptomatic and the neonate was successfully treated with intravenous artesunate...
January 8, 2018: American Journal of Tropical Medicine and Hygiene
https://www.readbyqxmd.com/read/29313431/hb-mozhaisk-%C3%AE-92-f8-his%C3%A2-arg-hbb-c-278a-g-as-a-de-novo-mutation-in-a-child-of-mixed-ethnic-origins
#12
Elena Benzoni, Valentina Giannone, Laura Michetti, Manuela Seia, Laura Cavalleri, Cristina Curcio
Approximately 150 variants described in the HbVar database have been found to be unstable and about 80.0% of these are on the β-globin gene. We describe the case of a 3-year-old child who presented at the emergency room with fever and asthenia. Hematological data suggested severe hemolytic anemia. Sequencing of the β-globin gene revealed the mutation HBB: c.278A>G at codon 92 in a heterozygous state, reported as Hb Mozhaisk in the HbVar database. Other family members did not have Hb Mozhaisk, thus, this variant is due to a de novo mutation...
July 2017: Hemoglobin
https://www.readbyqxmd.com/read/29296844/potential-impact-of-complement-regulator-deficiencies-on-hemolytic-reactions-due-to-minor-abo-mismatched-transfusions
#13
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/29296776/intestinal-hephaestin-potentiates-iron-absorption-in-weanling-adult-and-pregnant-mice-under-physiological-conditions
#14
Caglar Doguer, Jung-Heun Ha, Sukru Gulec, Chris D Vulpe, Gregory J Anderson, James F Collins
Regulation of intestinal iron absorption is crucial to maintain body iron levels because humans have no regulated iron-excretory system. Elucidating molecular events that mediate intestinal iron transport is thus important for the development of therapeutic approaches to modify iron absorption in pathological states. The process of iron uptake into duodenal enterocytes is relatively well understood, but less is known about the functional coupling between the iron exporter ferroportin 1 and the basolateral membrane iron oxidase hephaestin (Heph)...
July 25, 2017: Blood Advances
https://www.readbyqxmd.com/read/29296731/human-and-murine-splenic-neutrophils-are-potent-phagocytes-of-igg-opsonized-red-blood-cells
#15
Sanne M Meinderts, Per-Arne Oldenborg, Boukje M Beuger, Thomas R L Klei, Johanna Johansson, Taco W Kuijpers, Takashi Matozaki, Elise J Huisman, Masja de Haas, Timo K van den Berg, Robin van Bruggen
Red blood cell (RBC) clearance is known to occur primarily in the spleen, and is presumed to be executed by red pulp macrophages. Erythrophagocytosis in the spleen takes place as part of the homeostatic turnover of RBCs to remove old RBCs. It can be strongly promoted by immunoglobulin G (IgG) opsonization of RBCs, a condition that can occur as a consequence of autoantibody or alloantibody formation. The purpose of our study was to investigate which phagocytes are involved in IgG-mediated RBC clearance in the human spleen...
June 13, 2017: Blood Advances
https://www.readbyqxmd.com/read/29296728/cold-agglutinin-disease-burden-a-longitudinal-analysis-of-anemia-medications-transfusions-and-health-care-utilization
#16
Megan Mullins, Xiaohui Jiang, Lauren C Bylsma, Jon P Fryzek, Heidi Reichert, Evan C Chen, Shivaani Kummar, Adam Rosenthal
Cold agglutinin disease (CAD), a rare disease and subtype of autoimmune hemolytic anemia, is characterized by autoantibodies that bind to red blood cells at low temperatures. There is no established standard of care for CAD treatment and CAD cohort studies are limited by the rarity of the condition. The objectives of this study are to present the longitudinal experience of a CAD cohort from the United States, with a focus on anemia severity, use of medications and transfusions, and health care resource utilization...
May 23, 2017: Blood Advances
https://www.readbyqxmd.com/read/29296701/thrombotic-thrombocytopenic-purpura-diagnostic-criteria-clinical-features-and-long-term-outcomes-from-1995-through-2015
#17
Evaren E Page, Johanna A Kremer Hovinga, Deirdra R Terrell, Sara K Vesely, James N George
Our objective was to describe new observations from the Oklahoma Thrombotic Thrombocytopenic Purpura (TTP) Registry experience (November 1995 through December 2015) on the diagnosis of TTP along with patients' clinical features and their outcomes. Among 363 patients with an initial episode of clinically suspected TTP, the diagnosis of TTP was supported by both ADAMTS13 activity <10% and clinical features in 78 patients (21%). ADAMTS13 activity was measured in all 363 patients by 2 methods: fluorescence resonance energy transfer (FRET) and immunoblotting (IB)...
April 11, 2017: Blood Advances
https://www.readbyqxmd.com/read/29290749/rasburicase-induced-hemolytic-anemia-in-an-adolescent-with-unknown-glucose-6-phosphate-dehydrogenase-deficiency
#18
Manzilat Akande, Anthony N Audino, Joseph D Tobias
Rasburicase, used in the prevention and treatment of tumor lysis syndrome (TLS), may cause hemolytic anemia and methemoglobinemia in patients with glucose-6-phosphate dehydrogenase (G6PD) deficiency. Although routine screening for G6PD deficiency has been recommended, given the turnaround time for test results and the urgency to treat TLS, such screening may not be feasible. We report a case of rasburicase-induced hemolytic anemia without methemoglobinemia in an adolescent with T-cell lymphoblastic lymphoma, TLS, and previously unrecognized G6PD deficiency...
November 2017: Journal of Pediatric Pharmacology and Therapeutics: JPPT: the Official Journal of PPAG
https://www.readbyqxmd.com/read/29288557/alu-element-insertion-in-pklr-gene-as-a-novel-cause-of-pyruvate-kinase-deficiency-in-middle-eastern-patients
#19
Harry Lesmana, Lisa Dyer, Xia Li, James Denton, Jenna Griffiths, Satheesh Chonat, Katie G Seu, Matthew M Heeney, Kejian Zhang, Robert J Hopkin, Theodosia A Kalfa
Pyruvate kinase deficiency (PKD) is the most frequent red blood cell enzyme abnormality of the glycolytic pathway and the most common cause of hereditary nonspherocytic hemolytic anemia. Over 250 PKLR-gene mutations have been described, including missense/nonsense, splicing and regulatory mutations, small insertions, small and gross deletions, causing PKD and hemolytic anemia of variable severity. Alu retrotransposons are the most abundant mobile DNA sequences in the human genome, contributing to almost 11% of its mass...
December 30, 2017: Human Mutation
https://www.readbyqxmd.com/read/29287802/acute-and-sub-chronic-toxicological-studies-of-the-iridoid-glycosides-extract-of-lamiophlomis-rotata-benth-kudo-in-rats
#20
Quanlong Zhang, Zhujun Mao, Qiaoyan Zhang, Jianguo Qiu, Zhengping Jia, Luping Qin
Lamiophlomis rotata(Benth.) Kudo is widely used in traditional Chinese medicine and its iridoid glycosides extract (IGLR) was the main active ingredient with hemostatic, antinociceptive and anti-inflammatory effects. This study was aimed to evaluate the safety of IGLR using acute and sub-chronic toxicity study methods on Sprague-Dawley rats. In acute toxicity test, IGLR caused slight diarrhea in three dose groups and a decreased of RBC and increased of MCH and Ret (P < .05) were observed in 16 g/kg group...
December 26, 2017: Regulatory Toxicology and Pharmacology: RTP
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