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hemolytic anemias

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https://www.readbyqxmd.com/read/28728825/genetic-diseases-of-piezo1-and-piezo2-dysfunction
#1
S L Alper
Mutations in the genes encoding the mechanosensitive cation channels PIEZO1 and PIEZO2 are responsible for multiple hereditary human diseases. Loss-of-function mutations in the human PIEZO1 gene cause autosomal recessive congenital lymphatic dysplasia. Gain-of-function mutations in the human PIEZO1 gene cause the autosomal dominant hemolytic anemia, hereditary xerocytosis (also known as dehydrated stomatocytosis). Loss-of-function mutations in the human PIEZO2 gene cause an autosomal recessive syndrome of muscular atrophy with perinatal respiratory distress, arthrogryposis, and scoliosis...
2017: Current Topics in Membranes
https://www.readbyqxmd.com/read/28723780/the-relationship-between-itpa-rs1127354-polymorphisms-and-efficacy-of-antiviral-treatment-in-northeast-chinese-chc-patients
#2
Zhenhua Liu, Song Wang, Wenqian Qi, Xu Wang, Derong Sun, Hongguang Wang, Yonggui Zhang, Zhongxie Li, Liying Zhu, Ping Zhao, Honghua Guo, Changyu Zhou, Jiangbin Wang
This prospective study investigated the relationship between 2 inosine triphosphatase (ITPA) polymorphisms (rs7270101 and rs1127354) and the efficacy of ribavirin-based antiviral therapy in hepatitis C virus (HCV)-infected Chinese patients.A total of 906 patients diagnosed with chronic hepatitis C receiving pegylated interferon (PEG-IFN) plus ribavirin combination therapy between January 2011 and January 2014 from 5 hepatitis centers in Northeast China were enrolled. The patients were divided into genotype 1 and non-genotype 1 groups according to the genotype of infected HCV...
July 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/28723711/epidemiology-of-autoimmune-and-inflammatory-diseases-in-a-french-nationwide-hiv-cohort
#3
D Lebrun, M Hentzien, L Cuzin, D Rey, V Joly, L Cotte, C Allavena, P Dellamonica, A Servettaz, F Bani-Sadr
HIV infection and inflammatory and autoimmune diseases (IAD) are both related to immune dysfunction. Epidemiological data on IAD in patients living with HIV (PLHIV) are scarce. The aim of this study was thus to estimate the prevalence of 26 IAD among PLHIV followed in a large French multicenter cohort in the cART era (from January 2000 to July 2013), and to describe their occurrence according to cART onset, the immuno-virological status of patients and HCV and/or HBV co-infection.During the study period, 33 403 PLHIV were included in the Dat'AIDS cohort; 1381 patients with an IAD were identified...
July 18, 2017: AIDS
https://www.readbyqxmd.com/read/28721813/mechanisms-involved-in-the-increased-hemolysis-in-the-fetus-and-newborn
#4
Giuseppe Buonocore, Serafina Perrone, Rodolfo Bracci
BACKGROUND: The suicidal death of erythrocytes should be considered a possible cause of hemolysis and plasma bilirubin overload when there is no evidence of an immune-mediated hemolytic anemia, no consumptive red blood cell disorder, no morphologic or laboratory data to suggest a problem of the red cell membrane, and no evidence of a quantitative or qualitative defect in hemoglobin synthesis. OBJECTIVE: In neonatal period, xenobiotics, cytokines, osmotic shock, energy depletion, oxidative stress, and variation of temperature may induce an alteration of balance between damaging and protecting factors which can be followed by red cell death...
July 18, 2017: Current Pediatric Reviews
https://www.readbyqxmd.com/read/28721327/two-catastrophes-in-one-patient-drug-reaction-with-eosinophilia-and-systemic-symptoms-and-toxic-shock-syndrome
#5
Moayed Ibrahim, Diana L Nunley
A 70-year-old, immunocompromised patient presented to the emergency room (ER) five weeks after she was started on clopidogrel. She complained of skin eruption, mouth ulcers, fatigue, and myalgia over the past two weeks. Labs showed severe hyponatremia, acute kidney injury, rhabdomyolysis, hyperkalemia, and elevated liver enzymes. She was treated with steroids and discharged after her condition improved. However, a month later, she returned to the ER, complaining of nausea, vomiting, diarrhea, dizziness, chills, and shortness of breath over the past two days...
June 15, 2017: Curēus
https://www.readbyqxmd.com/read/28721106/adverse-reactions-in-leprosy-patients-who-underwent-dapsone-multidrug-therapy-a-retrospective-study
#6
Sanjeev Guragain, Namrata Upadhayay, Bishwa Mohan Bhattarai
OBJECTIVE: To investigate the occurrence and clinical characteristics of dapsone-related adverse drug reactions (ADRs) among leprosy patients who underwent multidrug therapy (MDT) from 2010 to 2013 in the western region of Nepal. METHODS: A retrospective review was carried out in the rehabilitation center. Data were collected from the record files of the hospital. RESULTS: From 2010 to 2013, there were 18 patients reported to have dapsone ADRs, with an occurrence rate of 0...
2017: Clinical Pharmacology: Advances and Applications
https://www.readbyqxmd.com/read/28720207/thrombotic-microangiopathy-a-multidisciplinary-team%C3%A2-approach
#7
Craig E Gordon, Vipul C Chitalia, J Mark Sloan, David J Salant, David L Coleman, Karen Quillen, Katya Ravid, Jean M Francis
Thrombotic microangiopathy (TMA) is characterized by the presence of microangiopathic hemolytic anemia and thrombocytopenia along with organ dysfunction, and pathologically, by the presence of microthrombi in multiple microvascular beds. Delays in diagnosis and initiation of therapy are common due to the low incidence, variable presentation, and poor awareness of these diseases, underscoring the need for interdisciplinary approaches to clinical care for TMA. We describe a new approach to improve clinical management via a TMA team that originally stemmed from an Affinity Research Collaborative team focused on thrombosis and hemostasis...
July 15, 2017: American Journal of Kidney Diseases: the Official Journal of the National Kidney Foundation
https://www.readbyqxmd.com/read/28716860/novel-mechanisms-of-piezo1-dysfunction-in-hereditary-xerocytosis
#8
Edyta Glogowska, Eve R Schneider, Yelena Maksimova, Vincent P Schulz, Kimberly Lezon-Geyda, John Wu, Kottayam Radhakrishnan, Siobán B Keel, Donald Mahoney, Alison M Freidmann, Rachel A Altura, Elena O Gracheva, Sviatoslav N Bagriantsev, Theodosia A Kalfa, Patrick G Gallagher
Mutations in PIEZO1 are the primary cause of hereditary xerocytosis, a clinically heterogeneous, dominantly inherited disorder of erythrocyte dehydration. We utilized next generation sequencing-based techniques to identify PIEZO1 mutations in individuals from 9 kindreds referred with suspected HX and/or undiagnosed congenital hemolytic anemia. Mutations were primarily found in the highly conserved, COOH-terminal pore region domain. Several mutations were novel and demonstrated ethnic specificity. We characterized these mutations using genomic, bioinformatic, cell biology, and physiology-based functional assays...
July 17, 2017: Blood
https://www.readbyqxmd.com/read/28711785/a-fit-for-purpose-lc-ms-ms-method-for-the-simultaneous-quantitation-of-atp-and-2-3-dpg-in-human-k2edta-whole-blood
#9
Hyeryun Kim, Penelope Kosinski, Charles Kung, Lenny Dang, Yue Chen, Hua Yang, Yuan-Shek Chen, Jordyn Kramer, Guowen Liu
Many hemolytic anemias results in major metabolic abnormalities: two common metabolite abnormalities include increased levels of 2,3-diphosphoglycerate (2,3-DPG) and decreased levels of adenosine triphosphate (ATP). To better monitor the concentration changes of these metabolites, the development of a reliable LC-MS/MS method to quantitatively profile the concentrations of 2, 3-DPG and ATP in whole blood is essential to understand the effects of investigational therapeutics. Accurate quantification of both compounds imposes great challenges to bioanalytical scientists due to their polar, ionic and endogenous nature...
July 8, 2017: Journal of Chromatography. B, Analytical Technologies in the Biomedical and Life Sciences
https://www.readbyqxmd.com/read/28711159/-hemolytic-and-uremic-syndrome-and-related-thrombotic-microangiopathies-epidemiology-pathophysiology-and-clinics
#10
C Rafat, P Coppo, F Fakhouri, V Frémeaux-Bacchi, C Loirat, J Zuber, E Rondeau
Thrombotic microangiopathies (TMA) represent an eclectic group of conditions, which share hemolytic anemia and thrombocytopenia as a common defining basis. Remarkable breakthroughs in the physiopathological setting have allowed for a thorough recomposition of the disparate syndromes, which form the constellation of TMA. In this view, clinicians now discriminate thrombocytopenic thrombotic purpura (TTP) defined by a severe deficiency in ADAMTS13, which is rarely associated with a severe renal involvement and the hemolytic and uremic syndrome (HUS) in which renal impairment is the most prominent clinical feature...
July 12, 2017: La Revue de Médecine Interne
https://www.readbyqxmd.com/read/28708333/conversion-from-calcineurin-inhibitors-to-mtor-inhibitors-as-primary-immunosuppressive-drugs-in-pediatric-heart-transplantation
#11
Alfred Asante-Korang, Jennifer Carapellucci, Diane Krasnopero, Abigail Doyle, Brian Brown, Ernest Amankwah
There are only a few reports of successful use of mammalian target of rapamycin (mTORI) as primary immunosuppression in pediatric heart transplantation. Compared to calcineurin inhibitors, mTORI have less side effects, especially nephrotoxicity, infections and malignancies. A retrospective study was conducted at our institution of all 170 heart transplants from 1995-2015. Nineteen patients were switched from tacrolimus(n=15) or cyclosporin(n=4) to everolimus(n=4) or sirolimus(n=15) due to nephrotoxicity(n=5), malignancy(n=8), EBV viremia/reactive plasmacytic changes(n=5) and immune hemolytic anemia(n=1)...
July 14, 2017: Clinical Transplantation
https://www.readbyqxmd.com/read/28703962/haematological-and-biochemical-studies-on-justicia-carnea-leaves-extract-in-phenylhydrazine-induced-anemia-in-albino-rats
#12
Chimaraoke Onyeabo, Ngozi K Achi, Chima A Ekeleme-Egedigwe, Chidinma U Ebere, Chidinma K Okoro
BACKGROUND: Justicia carnea is a medicinal plant used widely in Nigeria which is reported to have diverse functions, including blood-boosting potential. Aim. The effect of the ethanol extract of Justicea carnea (JC) leaves in phenylhydrazine induced-anemia albino rats on haematological and lipid profile parameters was investigated. METHODS: The experimental animals were randomly grouped into five groups of six rats each – group 1 (non-anemic control), group 2 (anemic control), group 3 (500 mg/kg of JC extract), group 4 (1000 mg/kg of JC extract) and group 5 (DMSO control)...
April 2017: Acta Scientiarum Polonorum. Technologia Alimentaria
https://www.readbyqxmd.com/read/28702343/eb-virus-reactivation-triggers-thrombotic-thrombocytopenic-purpura-in-a-healthy-adult
#13
Satoko Oka, Masaharu Nohgawa
Thrombotic thrombocytopenic purpura (TTP) is rare but life-threatening disease, characterized typically by microangiopathic hemolytic anemia (MAHA), profound peripheral thrombocytopenia and severe deficiency in the von Willebrand factor-cleaving prortease ADAMTS13. It has been reported that acquired immune TTP is closely associated with human immunodeficiency virus infection and influenza infection or vaccination. However, it has not been reported to be associated with Epstein Barr Virus infection or reactivation...
2017: Leukemia Research Reports
https://www.readbyqxmd.com/read/28700492/an-unusual-association-between-hemophagocytic-lymphohistiocytosis-mixed-connective-tissue-disease-and-autoimmune-hemolytic-anemia-a-case-report
#14
Amar H Kelkar, Anushi A Shah, Sherri L Yong, Zohair Ahmed
RATIONALE: In the adult patient, hemophagocytic lymphohistiocytosis (HLH) is uncommon and frequently difficult to diagnose due to its nonspecific presentation and numerous complications. PATIENT CONCERNS: Herein, we present the case of a 25-year-old female who initially presented for evaluation of persistent fevers and fatigue. She was found to have splenomegaly, generalized lymphadenopathy, pancytopenia, and acute hepatic failure. DIAGNOSES, INTERVENTIONS, AND OUTCOMES: Her course was further complicated by the development of nephrotic syndrome and autoimmune hemolytic anemia (AIHA)...
July 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/28699985/glycated-albumin-a-potential-biomarker-in-diabetes
#15
Priscila Aparecida Correa Freitas, Lethicia Rozales Ehlert, Joíza Lins Camargo
Diabetes mellitus (DM) is a chronic and metabolic disease that presents a high global incidence. Glycated hemoglobin (A1C) is the reference test for long-term glucose monitoring, and it exhibits an association with diabetic chronic complications. However, A1C is not recommended in clinical situations which may interfere with the metabolism of hemoglobin, such as in hemolytic, secondary or iron deficiency anemia, hemoglobinopathies, pregnancy, and uremia. The glycated albumin (GA) is a test that reflects short-term glycemia and is not influenced by situations that falsely alter A1C levels...
May 2017: Archives of Endocrinology and Metabolism
https://www.readbyqxmd.com/read/28698848/treatment-and-response-of-autoimmune-cytopenia-occurring-after-allogeneic-hematopoietic-cell-transplantation-in-children
#16
Seok Hwang-Bo, Seong-Koo Kim, Jae Wook Lee, Pil-Sang Jang, Nack-Gyun Chung, Dae-Chul Jeong, Bin Cho, Hack-Ki Kim
BACKGROUND: Autoimmune cytopenia (AIC) is a rare complication of allogeneic hematopoietic cell transplantation (HCT). In this study, we reviewed the diagnosis, treatment and response to therapy for pediatric patients with post-HCT AIC at our institution. METHODS: Of the 292 allogeneic HCTs performed from January, 2011 to December, 2015 at the Department of Pediatrics, The Catholic University of Korea, seven were complicated by post-HCT AIC, resulting in an incidence of 2...
June 2017: Blood Research
https://www.readbyqxmd.com/read/28698843/diagnostic-approaches-for-inherited-hemolytic-anemia-in-the-genetic-era
#17
REVIEW
Yonggoo Kim, Joonhong Park, Myungshin Kim
Inherited hemolytic anemias (IHAs) are genetic diseases that present with anemia due to the increased destruction of circulating abnormal RBCs. The RBC abnormalities are classified into the three major disorders of membranopathies, hemoglobinopathies, and enzymopathies. Traditional diagnosis of IHA has been performed via a step-wise process combining clinical and laboratory findings. Nowadays, the etiology of IHA accounts for germline mutations of the responsible genes coding for the structural components of RBCs...
June 2017: Blood Research
https://www.readbyqxmd.com/read/28698420/-intravascular-hemolysis-caused-by-stenosis-of-an-elephant-trunk-report-of-a-case
#18
Rikako Takamaru, Koji Kawahito, Kei Aizawa, Yoshio Misawa
Symptomatic intravascular hemolysis after prosthetic aortic graft replacement is rare. It is primarily attributed to mechanical injury of red blood cells caused by stenosis of the vascular graft. A 50-year-old man presented with hemolytic anemia, 5 years after total arch replacement with an elephant trunk for type A aortic dissection. The hemolysis was caused by graft stenosis of the elephant trunk. Endovascular treatment for the stenotic elephant trunk was successfully performed. The postoperative course was uneventful, and the hemolysis was resolved immediately after operation...
July 2017: Kyobu Geka. the Japanese Journal of Thoracic Surgery
https://www.readbyqxmd.com/read/28683450/acute-kidney-injury-and-hemolytic-anemia-secondary-to-mycoplasma-pneumoniae-infection
#19
Camillo Carrara, Mauro Abbate, Ettore Sabadini, Giuseppe Remuzzi
Glomerulonephritis as well as kidney injury secondary to fulminant intravascular hemolysis are rare extrapulmonary manifestations of Mycoplasma pneumoniae infection. We describe a 50-year-old female diagnosed with M. pneumoniae infection-associated hemolytic anemia, characterized by negative cold agglutinin tests but with laboratory evidence of complement alternative pathway activation. The patient presented both with anemia and severe kidney failure and she was treated with steroids and red blood cell transfusions along with plasmapheresis...
July 7, 2017: Nephron
https://www.readbyqxmd.com/read/28682672/sickle-cell-anemia-and-comorbid-leg-ulcer-treated-with-curative-peripheral-blood-stem-cell-transplantation
#20
Joseph L Connor, Caterina P Minniti, John F Tisdale, Matthew M Hsieh
Allogeneic bone marrow transplantation or peripheral blood stem cell transplantation (PBSCT) are the only curative therapies for patients with sickle cell disease (SCD). Once the patients have successfully undergone transplantation and engrafted, the hallmark of hemolytic anemia resolves, and normal hemoglobin levels are achieved. Some transplant protocols exclude patients with open wounds, including leg ulcers, because of infection risks associated with transplantation and long-term immunosuppression required to prevent graft-versus-host disease...
March 2017: International Journal of Lower Extremity Wounds
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