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https://www.readbyqxmd.com/read/29326868/essential-thrombocytemia-following-immune-thrombocytopenia-with-jak2v617f-mutation
#1
Giovanni Caocci, Sandra Atzeni, Monica Usai, Giorgio La Nasa
JAK2V617F mutation is found in about 60% of cases of essential thrombocytemia (ET) and represents a driving mutation. Immune thrombocytopenia (ITP) is an autoimmune disease characterized by a low platelet (PLT) count. So far, only 2 reports described ET following ITP. For the first time we analyzed in a patient the JAK2V617F allele burden at ITP onset occurred 13 years before the ET diagnosis and found the presence of a small clone JAK2V617F positive clone (3%) raised to 27% in the following years. The association of ET and ITP could suggest similar pathogenetic mechanisms that should be further investigated...
2018: Leukemia Research Reports
https://www.readbyqxmd.com/read/29218307/calreticulin-challenges-posed-by-the-intrinsically-disordered-nature-of-calreticulin-to-the-study-of-its-function
#2
Lilian Varricchio, Mario Falchi, Massimiliano Dall'Ora, Caterina De Benedittis, Alessandra Ruggeri, Vladimir N Uversky, Anna Rita Migliaccio
Calreticulin is a Ca2+ -binding chaperone protein, which resides mainly in the endoplasmic reticulum but also found in other cellular compartments including the plasma membrane. In addition to Ca2+ , calreticulin binds and regulates almost all proteins and most of the mRNAs deciding their intracellular fate. The potential functions of calreticulin are so numerous that identification of all of them is becoming a nightmare. Still the recent discovery that patients affected by the Philadelphia-negative myeloproliferative disorders essential thrombocytemia or primary myelofibrosis not harboring JAK2 mutations carry instead calreticulin mutations disrupting its C-terminal domain has highlighted the clinical need to gain a deeper understanding of the biological activity of this protein...
2017: Frontiers in Cell and Developmental Biology
https://www.readbyqxmd.com/read/29022213/high-prevalence-of-heparin-induced-thrombocytopenia-with-thrombosis-among-patients-with-essential-thrombocytemia-carrying-v617f-mutation
#3
Roberto Castelli, Paolo Gallipoli, Riccardo Schiavon, Thomas Teatini, Giorgio Lambertenghi Deliliers, Luigi Bergamaschini
Arterial and venous complications are major causes of morbidity and mortality in myeloproliferative neoplasms (MPNs). MPNs patients, frequently receive heparin. Heparin-induced thrombocytopenia (HIT) is a rare but potentially life-threatening complication resulting in a severe acquired thrombophilic condition. We carried out a retrospective analysis to evaluate occurrence of new thrombotic events during heparin therapy in essential thrombocythemia (ET) patients. We studied 108 ET patients on heparin for treatment of previous thrombotic events or in thromboprophilaxis...
January 2018: Journal of Thrombosis and Thrombolysis
https://www.readbyqxmd.com/read/28883223/exercise-ischemia-induced-by-essential-thrombocytemia-diagnosed-on-treadmill-test%C3%A3-transcutaneous-oxygen-pressure-measurement-of-foot-ischemia
#4
Loukman Omarjee, Olivier Stivalet, Guillaume Mahe, Vincent Jaquinandi
No abstract text is available yet for this article.
September 6, 2017: Circulation Journal: Official Journal of the Japanese Circulation Society
https://www.readbyqxmd.com/read/28808761/the-underappreciated-risk-of-thrombosis-and-bleeding-in-patients-with-myelofibrosis-a-review
#5
REVIEW
Devendra Kc, Lorenzo Falchi, Srdan Verstovsek
Bleeding and thrombosis are long recognized complications of myelofibrosis (MF) and contribute significantly to its morbidity and mortality. However, so far, few studies have evaluated the frequency of these events, their characteristics, and their prognostic impact. Based on these studies, thrombotic events in MF are about as common as in essential thrombocytemia (ET) but less common than in polycythemia vera (PV), while bleeding events are relatively more common in MF than in ET or PV. The emergence of the concept of prefibrotic primary MF (PMF), which is associated with a higher frequency of thrombohemorrhagic complications than ET, and the growing evidence that prefibrotic PMF may also have a different thrombotic and bleeding risk profiles than fibrotic (overt) PMF have emphasized the need for a reappraisal of the risk of thrombosis and hemorrhage in patients with MF...
October 2017: Annals of Hematology
https://www.readbyqxmd.com/read/28745329/involvement-of-maf-spp1-axis-in-the-development-of-bone-marrow-fibrosis-in-pmf-patients
#6
S Ruberti, E Bianchi, P Guglielmelli, S Rontauroli, G Barbieri, L Tavernari, T Fanelli, R Norfo, V Pennucci, G Corbizi Fattori, C Mannarelli, N Bartalucci, B Mora, L Elli, M A Avanzini, C Rossi, S Salmoiraghi, R Zini, S Salati, Z Prudente, V Rosti, F Passamonti, A Rambaldi, S Ferrari, E Tagliafico, A M Vannucchi, R Manfredini
Primary myelofibrosis (PMF) is a myeloproliferative neoplasm characterized by hyperplastic megakaryopoiesis and myelofibrosis. We recently described the upregulation of MAF (v-maf avian musculoaponeurotic fibrosarcoma oncogene homolog) in PMF CD34+ hematopoietic progenitor cells (HPCs) compared to healthy donor. Here we demonstrated that MAF is also upregulated in PMF compared with the essential thrombocytemia (ET) and polycytemia vera (PV) HPCs. MAF overexpression and knockdown experiments shed some light into the role of MAF in PMF pathogenesis, by demonstrating that MAF favors the megakaryocyte and monocyte/macrophage commitment of HPCs and leads to the increased expression of proinflammatory and profibrotic mediators...
February 2018: Leukemia: Official Journal of the Leukemia Society of America, Leukemia Research Fund, U.K
https://www.readbyqxmd.com/read/28550239/clinical-conditions-responsible-for-hyperviscosity-and-skin-ulcers-complications
#7
REVIEW
Gregorio Caimi, Baldassare Canino, Rosalia Lo Presti, Caterina Urso, Eugenia Hopps
In this brief review, we have examined some clinical conditions that result to be associated to an altered hemorheological profile and at times accompanied by skin ulcers. This skin condition may be observed in patients with the following condtions, such as primary polycythemic hyperviscosity (polycythemia, thrombocytemia) treated with hydroxyurea, primary plasma hyperviscosity (multiple myeloma, cryoglobulinemia, cryofibrinogenemia, dysfibrinogenemia, and connective tissue diseases), primary sclerocythemic hyperviscosity (hereditary spherocytosis, thalassemia, and sickle cell disease)...
2017: Clinical Hemorheology and Microcirculation
https://www.readbyqxmd.com/read/28488914/decitabine-treatment-of-multiple-extramedullary-acute-myeloid-leukemia-involvements-after-essential-thrombocytemia-transformation
#8
Pasquale Niscola, Elisabetta Abruzzese, Malgorzata Monika Trawinska, Massimiliano Palombi, Andrea Tendas, Marco Giovannini, Laura Scaramucci, Luca Cupelli, Stefano Fratoni, Nélida Inés Noguera, Gianfranco Catalano, Paolo de Fabritiis
No abstract text is available yet for this article.
May 10, 2017: Acta Oncologica
https://www.readbyqxmd.com/read/27510853/new-strategies-in-myelofibrosis-the-evolving-paradigm-of-disease-pathogenesis-prognostication-and-treatment
#9
REVIEW
Francesca Palandri, Giuseppe Auteri, Michele Baccarani
Myelofibrosis (MF) is the most severe among the classical Philadelphia-negative myeloproliferative neoplasms that also include essential thrombocytemia and polycythemia vera. Myelofibrosis is characterized by numerous genetic lesions, often variously associated with each other, and by an aggressive clinical phenotype leading to severely reduced survival. Also, the inflammatory microenvironment plays a key role in disease initiation and progression. Because of the complexity of its pathogenesis and the variability of clinical features, MF is a disease that requires a personalized approach and remains orphan of curative treatments besides allogeneic transplantation...
June 2017: Hematological Oncology
https://www.readbyqxmd.com/read/27081176/human-thrombopoiesis-depends-on-protein-kinase-c%C3%AE-protein-kinase-c%C3%AE%C2%B5-functional-couple
#10
Cecilia Carubbi, Elena Masselli, Silvia Martini, Daniela Galli, Franco Aversa, Prisco Mirandola, Joseph E Italiano, Giuliana Gobbi, Marco Vitale
A deeper understanding of the molecular events driving megakaryocytopoiesis and thrombopoiesis is essential to regulate in vitro and in vivo platelet production for clinical applications. We previously documented the crucial role of PKCε in the regulation of human and mouse megakaryocyte maturation and platelet release. However, since several data show that different PKC isoforms fulfill complementary functions, we targeted PKCε and PKCδ, which show functional and phenotypical reciprocity, at the same time as boosting platelet production in vitro...
July 2016: Haematologica
https://www.readbyqxmd.com/read/26512843/acute-coronary-syndrome-acs-in-patients-with-essential-thrombocytemia-et-what-is-the-best-treatment
#11
LETTER
G Tortorella, M Calzolari, A Tieghi, N Muià, A Piccin, L Gugliotta
No abstract text is available yet for this article.
January 15, 2016: International Journal of Cardiology
https://www.readbyqxmd.com/read/26422250/the-role-of-%C3%AE-catenin-in-bcr-abl-negative-myeloproliferative-neoplasms-an-immunohistochemical-study
#12
Ayfer Geduk, Elif B Atesoglu, Pinar Tarkun, Ozgur Mehtap, Abdullah Hacihanefioglu, Esra T Demirsoy, Canan Baydemir
INTRODUCTION: β-Catenin is a multifunctional protein that acts as a central effector molecule in the Wnt signaling pathway. Aberrant activation of the Wnt/β-catenin signaling pathway causes various diseases including cancer. In this study we evaluated β-catenin expression in bcr/abl-negative myeloproliferative neoplasms (MPNs). MATERIALS AND METHODS: The expression of β-catenin was evaluated in bone marrow using immunohistochemical methods in 66 patients with bcr/abl-negative myeloproliferative neoplasms (MPNs) and in 30 healthy control subjects...
December 2015: Clinical Lymphoma, Myeloma & Leukemia
https://www.readbyqxmd.com/read/26411189/-indications-for-antithrombotic-medication-during-pregnancy-analysis-of-current-practices-in-bulgaria
#13
Neikova K, V Dimitrova, R Dimitrov, A Savov
AIM: To analyze current practices in Bulgaria regarding antithrombotic medication (AM) during pregnancy, and to compare them with the ones recommended in literature. MATERIALS AND METHODS: In 84 pregnant women who were low dose aspirin (LDA) or/and low molecular weight heparin (LMWH) or unfractionated heparin (UH), data about AM were collected and analyzed. A descriptive analysis was performed of the indications for AM, its type, the applied doses and therapeutic regimens...
2015: Akusherstvo i Ginekologii︠a︡
https://www.readbyqxmd.com/read/26361700/liver-transplantation-for-budd-chiari-syndrome-with-large-solitary-focal-nodular-hyperplasia-of-the-liver-in-a-patient-with-essential-thrombocythemia-case-report-corrected
#14
A Alnajjar, H Al-Hussaini, M Al Sebayel, W Al-Kattan, H Elsiesy
Budd-Chiari syndrome is a rare condition caused by interrupted hepatic venous outflow in the hepatic veins, inferior vena cava, or right atrium. Reports from the literature have delineated on focal nodular hyperplasia (FNH)-like lesions in association with Budd-Chiari Syndrome. To our knowledge, there are no reports about true FNH lesions in patients with Budd-Chiari Syndrome. Focal nodular hyperplasia develops in disorders with aberrant circulation and vasculature. We report a case of Budd-Chiari syndrome in association with large solitary FNH in a 22-year-old man who was referred to our institution with sudden intermittent right upper quadrant abdominal pain, vomiting, diarrhea with pale stool, decreased appetite, dark urine, and abdominal distention for 15 days...
September 2015: Transplantation Proceedings
https://www.readbyqxmd.com/read/26225146/influence-of-the-jak2-v617f-mutation-and-inherited-thrombophilia-on-the-thrombotic-risk-among-patients-with-myeloproliferative-disorders
#15
Mihaela Tevet, Razvan Ionescu, Cornel Dragan, Anca Roxana Lupu
BACKGROUND: A number of studies showed that the JAK2 V617F mutation increases the thrombotic risk in patients with myeloproliferative disorders (MPN) while others did not reveal this correlation, and it is unknown whether inherited thrombophilia is an additive risk factor in mutated subjects. Our aim was to clarify the contribution of JAK2 V617F to a hypercoagulable state, as well as its interaction with other thrombophilic factors in patients with thrombosis and myeloproliferative disorders...
March 2015: Mædica
https://www.readbyqxmd.com/read/26196190/early-severe-preeclampsia-with-marked-platelet-dysfunction-in-association-with-essential-thrombocytemia-case-report-and-discussion
#16
Minodora Onisai, Irina Voican, Mihai Ciorascu, Viola Popov, Horia Bumbea, Mihaela Gaman, Alexandru Filipescu, Radu Vladareanu, Ana-Maria Vladareanu
Essential thrombocytemia--a classic myeloproliferative neoplasm characterized by persistent thrombocytosis--may associate both thrombotic and hemorrhagic events, as well as platelet dysfunction. Of all myeloproliferative neoplasms, essential thrombocytemia is more likely to be associated with pregnancy, because of a higher comparative incidence in younger patients. This association significantly increases the risk of pregnancy loss and of various pregnancy complications. We present a case of early severe preeclampsia with a critical and unusual evolution and life-threatening complications...
October 2015: Blood Coagulation & Fibrinolysis: An International Journal in Haemostasis and Thrombosis
https://www.readbyqxmd.com/read/25885405/thrombosis-in-essential-thrombocytemia-and-early-prefibrotic-primary-myelofibrosis-the-role-of-the-who-histological-diagnosis
#17
COMPARATIVE STUDY
Serena Rupoli, Gaia Goteri, Paola Picardi, Giorgia Micucci, Lucia Canafoglia, Anna Rita Scortechini, Irene Federici, Federica Giantomassi, Lidia Da Lio, Antonio Zizzi, Elisa Honorati, Pietro Leoni
BACKGROUND: Vascular events represent the most frequent complications of thrombocytemias. We aimed to evaluate their risk in the WHO histologic categories of Essential Thrombocytemia (ET) and early Primary Myelofibrosis (PMF). METHODS: From our clinical database of 283 thrombocytemic patients, we selected those with available bone marrow histology performed before any treatment, at or within 1 year from diagnosis, and reclassified the 131 cases as true ET or early PMF, with or without fibrosis, according to the WHO histological criteria...
April 16, 2015: Diagnostic Pathology
https://www.readbyqxmd.com/read/25317229/cerebral-venous-thrombosis-a-moroccan-retrospective-study-of-30-cases
#18
Zouhayr Souirti, Ouafae Messouak, Faouzi Belahsen
Cerebral venous thrombosis (CVT) is a rare origin of stroke, the clinical presentation and etiologies vary. The prognosis is shown to be better than arterial thrombosis. Magnetic Resonance Imaging (MRI) and MR Venograpgy (MRV) are currently important tools for the diagnosis. We studied 30 cases of CVT diagnosed in the department of neurology at the University Hospital of Fez (Morocco). Patients diagnosed with CVT signs between January 2003 and October 2007 were included in the study. Cerebral CT-scan was performed in 27 cases (90%) while the MRI examination was done in 18 patients (67%); and most patients (90%) received anticoagulant therapy...
2014: Pan African Medical Journal
https://www.readbyqxmd.com/read/25317228/-pseudo-condylomatous-neurodermatitis-of-the-anal-margin
#19
Naoufal Hjira, Rachid Frikh, Abderrahmane ALBouzidi, Mohammed Boui
Cerebral venous thrombosis (CVT) is a rare origin of stroke, the clinical presentation and etiologies vary. The prognosis is shown to be better compared to arterial thrombosis. Magnetic Resonance Imaging (MRI) and MR Venograpgy (MRV) are currently important tools for the diagnostic. We studied 30 cases of CVT diagnosed in the department of neurology of the University Hospital of Fez (Morocco). Patients diagnosed with CVT signs between January 2003 and October 2007 were included in the study. Cerebral CT-scan was performed in 27 cases (90%) while the MRI examination was done in 18 patients (67%); and most patients (90%) received anticoagulant therapy...
2014: Pan African Medical Journal
https://www.readbyqxmd.com/read/25143485/jak2-and-mpl-protein-levels-determine-tpo-induced-megakaryocyte-proliferation-vs-differentiation
#20
Rodolphe Besancenot, Damien Roos-Weil, Carole Tonetti, Hadjer Abdelouahab, Catherine Lacout, Florence Pasquier, Christophe Willekens, Philippe Rameau, Yann Lecluse, Jean-Baptiste Micol, Stefan N Constantinescu, William Vainchenker, Eric Solary, Stéphane Giraudier
Megakaryopoiesis is a 2-step differentiation process, regulated by thrombopoietin (TPO), on binding to its cognate receptor myeloproliferative leukemia (MPL). This receptor associates with intracytoplasmic tyrosine kinases, essentially janus kinase 2 (JAK2), which regulates MPL stability and cell-surface expression, and mediates TPO-induced signal transduction. We demonstrate that JAK2 and MPL mediate TPO-induced proliferation arrest and megakaryocytic differentiation of the human megakaryoblastic leukemia cell line UT7-MPL...
September 25, 2014: Blood
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