229 results on '"Randi ML"'
Search Results
2. The Aspirin Regimens in Essential Thrombocythemia (ARES) phase II randomized trial design: Implementation of the serum thromboxane B(2) assay as an evaluation tool of different aspirin dosing regimens in the clinical setting
- Author
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De Stefano, Valerio, Rocca, Bianca, Tosetto, A, Soldati, Denise, Petrucci, Giovanna, Beggiato, E, Bertozzi, I, Betti, Silvia, Carli, G, Carpenedo, M, Cattaneo, D, Cavalca, V, Dragani, A, Elli, E, Finazzi, G, Iurlo, A, Lanzarone, G, Lissandrini, L, Palandri, F, Paoli, C, Rambaldi, A, Ranalli, Paola, Randi, Ml, Ricco, A, Rossi, Elena, Ruggeri, M, Specchia, G, Timillero, A, Turnu, L, Vianelli, N, Vannucchi, Am, Rodeghiero, F, Patrono, Carlo, De Stefano V (ORCID:0000-0002-5178-5827), Rocca B (ORCID:0000-0001-8304-6423), Soldati D, Petrucci G (ORCID:0000-0002-9280-3673), Betti S, Ranalli P, Rossi E (ORCID:0000-0002-7572-9379), Patrono C, De Stefano, Valerio, Rocca, Bianca, Tosetto, A, Soldati, Denise, Petrucci, Giovanna, Beggiato, E, Bertozzi, I, Betti, Silvia, Carli, G, Carpenedo, M, Cattaneo, D, Cavalca, V, Dragani, A, Elli, E, Finazzi, G, Iurlo, A, Lanzarone, G, Lissandrini, L, Palandri, F, Paoli, C, Rambaldi, A, Ranalli, Paola, Randi, Ml, Ricco, A, Rossi, Elena, Ruggeri, M, Specchia, G, Timillero, A, Turnu, L, Vianelli, N, Vannucchi, Am, Rodeghiero, F, Patrono, Carlo, De Stefano V (ORCID:0000-0002-5178-5827), Rocca B (ORCID:0000-0001-8304-6423), Soldati D, Petrucci G (ORCID:0000-0002-9280-3673), Betti S, Ranalli P, Rossi E (ORCID:0000-0002-7572-9379), and Patrono C
- Abstract
Once-daily (od), low-dose aspirin (75–100 mg) is recommended to reduce the thrombotic risk of patients with essential thrombocytemia (ET). This practice is based on data extrapolated from other high-risk patients and an aspirin trial in polycythemia vera, with the assumption of similar aspirin pharmacodynamics in the two settings. However, the pharmacodynamics of low-dose aspirin is impaired in ET, reflecting accelerated renewal of platelet cyclooxygenase (COX)-1. ARES is a parallel-arm, placebo-controlled, randomized, dose-finding, phase II trial enrolling 300 ET patients to address two main questions. First, whether twice or three times 100 mg aspirin daily dosing is superior to the standard od regimen in inhibiting platelet thromboxane (TX)A2 production, without inhibiting vascular prostacyclin biosynthesis. Second, whether long-term persistence of superior biochemical efficacy can be safely maintained with multiple vs. single dosing aspirin regimen. Considering that the primary study end point is serum TXB2, a surrogate biomarker of clinical efficacy, a preliminary exercise of reproducibility and validation of this biomarker across all the 11 participating centers was implemented. The results of this preliminary phase demonstrate the importance of controlling reproducibility of biomarkers in multicenter trials and the feasibility of using serum TXB2 as a reliable end point for dose-finding studies of novel aspirin regimens.
- Published
- 2018
3. Sopravvivenza libera da trombosi in 734 pazienti con trombocitemia essenziale (WHO 2016) stratificati secondo lo score 'Revised International Prognostic Score for Thrombosis in Essential Thrombocythemia (R-IPSET-Th)'. Studio del Regostro ItalianoTrombocitemie (RIT)
- Author
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Gugliotta, L, Iurlo, A, Gugliotta, G, Tieghi, A, Gaidano, G, Dragani, A, Scalzulli, P, Martinelli, V, Martino, B, Randi, Ml, Cattaneo, D, Appolloni, V, Maschio, N, Langella, M, Santoro, C, Rago, A, Cacciola, Emma, Cacciola, Rossella Rosaria, Caocci, G, Plebani, S, Santoro, U, Vianelli, N, Mazzucconi, Mg, Specchia, G, Passamonti, F, and Vannucchi, Am
- Published
- 2017
4. Short and Long-Term Risk of Major Cardiovascular Events after Ischemic Stroke or Transient Ischemic Attack in Myeloproliferative Neoplasms
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Barbui, T, De Stefano, V, Carobbio, A, Di Lazzaro, V, Guglielmelli, P, Iurlo, A, Finazzi, M, Rumi, E, Cervantes, F, Elli, E, Randi, Ml, Griesshammer, M, Palandri, F, Bonifacio, M, Hernandez, E, Cacciola, Rossella Rosaria, Cacciola, E, Palova, M, Carli, G, Beggiato, E, Martinelli, E, Musolino, C, Gaidano, G, Tieghi, A, Lunghi, F, Loscocco, G, Cattaneo, D, Cortelezzi, A, Betti, S, Rossi, E, Finazzi, G, Censori, B, Cazzola, M, Bellini, M, Arellano, V, Bertozzi, I, Sadiadian, P, Vianelli, N, and Scaffidi, L.
- Published
- 2017
5. Sequencing of the hypoxia pathway genes in patients with congenital erythrocytoses by next generation sequencing
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Girodon, F., Pacault, F., Airaud, M., Garrec, C., Corbineau, S., Casadevall, N., Rose, C., de Renzis, B., Peroni, E., Randi, Ml., Dumont, S., Ricordeau, I., Bezieau, S., Gardie, B., université de Bourgogne, LNC, Service d'Hématologie Clinique (CHU de Dijon), Centre Hospitalier Universitaire de Dijon - Hôpital François Mitterrand (CHU Dijon), Lipides - Nutrition - Cancer [Dijon - U1231] (LNC), Université de Bourgogne (UB)-Institut National de la Santé et de la Recherche Médicale (INSERM)-AgroSup Dijon - Institut National Supérieur des Sciences Agronomiques, de l'Alimentation et de l'Environnement, Université de Nantes (UN), Service de génétique médicale - Unité de génétique clinique [Nantes], Université de Nantes (UN)-Centre hospitalier universitaire de Nantes (CHU Nantes), Centre de Recherche en Cancérologie Nantes-Angers (CRCNA), Centre Hospitalier Universitaire d'Angers (CHU Angers), PRES Université Nantes Angers Le Mans (UNAM)-PRES Université Nantes Angers Le Mans (UNAM)-Hôtel-Dieu de Nantes-Institut National de la Santé et de la Recherche Médicale (INSERM)-Hôpital Laennec-Centre National de la Recherche Scientifique (CNRS)-Faculté de Médecine d'Angers-Centre hospitalier universitaire de Nantes (CHU Nantes), Hématopoïèse normale et pathologique (U1170 Inserm), Université Paris-Sud - Paris 11 (UP11)-Institut Gustave Roussy (IGR)-Institut National de la Santé et de la Recherche Médicale (INSERM), Université catholique de Lille (UCL), Oncologie médicale [Hôpital Saint Vincent de Paul, Lille], Hôpital Saint-Vincent de Paul, Service d’Hématologie Biologique [CHU Clermont-Ferrand], CHU Gabriel Montpied [Clermont-Ferrand], CHU Clermont-Ferrand-CHU Clermont-Ferrand-CHU Estaing [Clermont-Ferrand], CHU Clermont-Ferrand, Department of Medicine (DIMED), Centre Hospitalier Universitaire de Dijon - Hôpital François Mitterrand ( CHU Dijon ), Lipides - Nutrition - Cancer [Dijon - U1231] ( LNC ), Université de Bourgogne ( UB ) -AgroSup Dijon - Institut National Supérieur des Sciences Agronomiques, de l'Alimentation et de l'Environnement-Institut National de la Santé et de la Recherche Médicale ( INSERM ), Université de Nantes ( UN ), Université de Nantes ( UN ) -Centre hospitalier universitaire de Nantes ( CHU Nantes ), Centre de Recherche en Cancérologie / Nantes - Angers ( CRCNA ), CHU Angers-Hôtel-Dieu de Nantes-Institut National de la Santé et de la Recherche Médicale ( INSERM ) -Hôpital Laennec-Centre National de la Recherche Scientifique ( CNRS ) -Faculté de Médecine d'Angers-Centre hospitalier universitaire de Nantes ( CHU Nantes ), Hématopoïèse normale et pathologique ( U1170 Inserm ), Université Paris-Sud - Paris 11 ( UP11 ) -Institut Gustave Roussy ( IGR ) -Institut National de la Santé et de la Recherche Médicale ( INSERM ), Université catholique de Lille ( UCL ), and Service de thérapie cellulaire et hématologie clinique [CHU Clermont Ferrand]
- Subjects
[SDV.MHEP.HEM] Life Sciences [q-bio]/Human health and pathology/Hematology ,[ SDV.MHEP.HEM ] Life Sciences [q-bio]/Human health and pathology/Hematology ,[SDV.MHEP.HEM]Life Sciences [q-bio]/Human health and pathology/Hematology - Abstract
IF 7.702; International audience
- Published
- 2017
6. VALIDATION OF THE REVISED IPSET-THROMBOSIS SCORE IN 734 PATIENTS WITH WHO 2016-DEFINED ESSENTIAL THROMBOCYTHEMIA. REPORT OF THE REGISTRO ITALIANO TROMBOCITEMIE
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Gugliotta, L, Iurlo, A, Gugliotta, G, Tieghi, A, Gaidano, G, Dragani, A, Scalzulli, P, Martinelli, V, Martino, B, Randi, Ml, Appolloni, V, Maschio, N, Langella, M, Santoro, Cristina, Rago, A, Cacciola, E, Cacciola, R, Caocci, G, Plebani, S, Santoro, U, Vianelli, N, Mazzucconi, Maria Gabriella, and Specchia, G.
- Published
- 2017
7. CLINICAL BEHAVIOUR OF ESSENTIAL THROMBOCYTHEMIA IN PAEDIATRIC AGE
- Author
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Bertozzi, I, Putti, Mc, Farruggia, P, Ramenghi, U, Micalizzi, C, Cesaro, S, Russo, G, Biagetti, G, Bogoni, G, and Randi, Ml
- Published
- 2017
8. Clinical and biological features in patients with Ph-negative chronic myeloproliferative neoplasms showing different molecular pattern comparative study in 596 patients of the Registro Italiano Trombocitemie (RIT)
- Author
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Gugliotta, L, Iurlo, A, Gugliotta, G, Tieghi, A, Specchia, G, Gaidano, G, Candoni, A, Randi, Ml, Scalzulli, Pr, Dragani, A, Martinelli, V, Tagariello, G, Antonioli, E, Liberati, Am, Palmieri, R, Langella, M, Rago, A, Cacciola, Rossella Rosaria, Pierri, I, Ricco, A, Cattaneo, D, Santoro, U, Rupoli, S, Santoro, C, Mastrullo, L, Mazzucconi, Mg, Vianelli, N, De Stefano, V, Passamonti, F, and Vannucchi, Am
- Published
- 2015
9. Efficacy and Safety of Low-Dose Aspirin in Polycythemia Vera
- Author
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Landolfi, R, Marchioli, R, Kutti, J, Gisslinger, H, Tognoni, G, Patrono, C, Barbui, T, Finazzi, G, Pusterla, S, Falanga, A, Galli, M, Wadenvik, H, Gastl, G, Ludescher, C, Lutz, D, Girschikofsky, M, Michlmayr, G, Rechberger, E, Niessner, H, Ivansich, E, Rain, Jd, Chommienne Thomas, C, Hehlmann, R, Engelich, G, Kohne, E, Kramer, A, Christakis, Ji, Papaioannou, M, Gerotziafas, G, O'Donnell, R, Bennett, M, Lugassy, G, Ellis, M, Eldor, A, Naparstek, E, Marilus, R, Leoni, P, Rupoli, S, Scortechini, Ar, Agostini, V, Volpe, E, Calmieri, F, Volpe, A, Storti, G, Ciampa, A, Dammacco, F, Lauta, Vm, Ranieri, G, Rizzi, R, Orsola, S, Tura, S, Finelli, C, Marino, G, Rossi, G, Almici, C, Capucci, A, Zanetti, F, Giustolisi, R, Cacciola, Rr, Cacciola, E, Peta, A, Magro, D, Frigerio, G, Alberio, F, Beretta, A, Bonferroni, M, Raviolo, A, Ferrini, Prl, Grossi, A, Fabbri, A, Nardelli, S, Centra, A, Musolino, C, Bellomo, G, Trincali, O, Spatari, Giovanna, Foa, P, Gerli, G, Carraro, Mc, Zanella, A, Lurlo, A, Barraco, F, Torelli, G, Marietta, M, Pogliani, E, Miccolis, Ir, La Rocca, A, Puglisi, A, Sardeo, G, Rotoli, B, Martinelli, V, Ciancia, R, Cardarelli, A, Cimino, R, Fasanaro, A, Randi, Ml, Rizzoli, V, Caramatti, C, Gaeta, L, Lazzarino, M, Passamonti, F, Lazzola, M, Malabarba, L, Natale, D, Pulini, S, Davi, G, Gugliotta, L, Ilariucci, F, De Candia, E, Eugenio, S, Amadori, S, Buccisano, F, Mandelli, F, Montefusco, E, Petti, Mc, Spadea, A, Carotenuto, M, Morelli, A, Nobile, M, Longinotti, M, Pardini, Sm, Lauria, F, Buccalossi, A, Gentili, S, Mazza, P, Cervellera, M, Maggi, A, Di Francesco, A, Pasqualoni, E, Chisesi, T, Polacco, A, Capnist, G, Rodeghiero, F, Ruggeri, M, Arrizabalaga, B, Remacha, A, De Mendiguren, Bp, Hernandez Nieto, L, Hernandez Garcia, Mt, Gonzalez Brito, G, Machado, P, Garcia, G, Villegas, A, Pena, A, Fernandez, Ag, Carbonell, F, Del Arco, A, Back, H, Stenke, L, Hansen, S, Larsson, G, Stromblad, G, Lauri, B, Ryden, Bo, Linder, O, Lundholm, Bg, Lannemyr, O, Strandberg, M, Andreasson, B, Stockelberg, D, Pasquariello, F, Tichelli, A, Otremba, B, Hinrichs, Hf, Weber Stadelmann, W, Bareford, D, Oscier, Dg, Bowey, N, Taylor, Pc, de Gaetano, G, Najean, Y, Pearson, Tc, Di Blasio, A, Atashkar, S, Mari, E, Tamayo, D, Borelli, G, Ferri, B, Marfisi, Rm, Olivieri, M, Polidoro, A, Spoltore, R, Levantesi, G, Di Mascio, R, Miceli, G, Sperti, G, Correale, E, Vermjlen, J, and Collins, R.
- Subjects
Aspirin ,medicine.medical_specialty ,business.industry ,food and beverages ,General Medicine ,medicine.disease ,Thrombosis ,Pulmonary embolism ,Venous thrombosis ,Polycythemia vera ,Relative risk ,Internal medicine ,Anesthesia ,Cardiology ,Medicine ,Myocardial infarction ,business ,Contraindication ,medicine.drug - Abstract
background The use of aspirin for the prevention of thrombotic complications in polycythemia vera is controversial. methods We enrolled 518 patients with polycythemia vera, no clear indication for aspirin treatment, and no contraindication to such treatment in a double-blind, placebo-controlled, randomized trial to assess the safety and efficacy of prophylaxis with low-dose aspirin (100 mg daily). The two primary end points were the cumulative rate of nonfatal myocardial infarction, nonfatal stroke, or death from cardiovascular causes and the cumulative rate of nonfatal myocardial infarction, nonfatal stroke, pulmonary embolism, major venous thrombosis, or death from cardiovascular causes. The mean duration of follow-up was about three years. results Treatment with aspirin, as compared with placebo, reduced the risk of the combined end point of nonfatal myocardial infarction, nonfatal stroke, or death from cardiovascular causes (relative risk, 0.41; 95 percent confidence interval, 0.15 to 1.15; P=0.09) and the risk of the combined end point of nonfatal myocardial infarction, nonfatal stroke, pulmonary embolism, major venous thrombosis, or death from cardiovascular causes (relative risk, 0.40; 95 percent confidence interval, 0.18 to 0.91; P=0.03). Overall mortality and cardiovascular mortality were not reduced significantly. The incidence of major bleeding episodes was not significantly increased in the aspirin group (relative risk, 1.62; 95 percent confidence interval, 0.27 to 9.71). conclusions Low-dose aspirin can safely prevent thrombotic complications in patients with polycythemia vera who have no contraindications to such treatment.
- Published
- 2004
10. Cerebral vein thrombosis in patients with Philadelphia-negative myeloproliferative neoplasms. An European Leukemia Net study
- Author
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Martinelli, I, De Stefano, Valerio, Carobbio, A, Randi, Ml, Santarossa, C, Rambaldi, A, Finazzi, Mc, Cervantes, F, Arellano Rodrigo, E, Rupoli, S, Canafoglia, L, Tieghi, A, Facchini, L, Betti, Silvia, Vannucchi, Am, Pieri, L, Cacciola, R, Cacciola, E, Cortelezzi, A, Iurlo, A, Pogliani, Em, Elli, Em, Spadea, A, and Barbui, T.
- Subjects
Adult ,Male ,Adolescent ,Hormone Replacement Therapy ,Comorbidity ,Sinus Thrombosis ,Contraceptives, Oral, Hormonal ,Neoplasms, Multiple Primary ,Sinus Thrombosis, Intracranial ,Young Adult ,Postoperative Complications ,Pregnancy ,Recurrence ,Risk Factors ,Hematologic Agents ,Humans ,Thrombophilia ,Philadelphia Chromosome ,Aged ,Retrospective Studies ,Aged, 80 and over ,Venous Thrombosis ,Myeloproliferative Disorders ,Pregnancy Complications, Hematologic ,Middle Aged ,Intracranial ,Settore MED/15 - MALATTIE DEL SANGUE ,Italy ,Spain ,Female ,Pulmonary Embolism ,Pregnancy Complications, Neoplastic - Abstract
To investigate the characteristics and clinical course of cerebral vein thrombosis (CVT) in patients with myeloproliferative neoplasms (MPN) we compared 48 patients with MPN and CVT (group MPN-CVT) to 87 with MPN and other venous thrombosis (group MPN-VT) and 178 with MPN and no thrombosis (group MPN-NoT) matched by sex, age at diagnosis of MPN (±5 years) and type of MPN. The study population was identified among 5,500 patients with MPN, from January 1982 to June 2013. Thrombophilia abnormalities were significantly more prevalent in the MPN-CVT and MPN-VT than in MPN-NoT group (P = 0.015), as well as the JAK2 V617F mutation in patients with essential thrombocythemia (P = 0.059). Compared to MPN-VT, MPN-CVT patients had a higher rate of recurrent thrombosis (42% vs. 25%, P = 0.049) despite a shorter median follow-up period (6.1 vs. 10.3 years, P = 0.019), a higher long-term antithrombotic (94% vs. 84%, P = 0.099) and a similar cytoreductive treatment (79% vs. 70%, P = 0.311). The incidence of recurrent thrombosis was double in MPN-CVT than in MPN-VT group (8.8% and 4.2% patient-years, P = 0.022), and CVT and unprovoked event were the only predictive variables in a multivariate model including also sex, blood count, thrombophilia, cytoreductive, and antithrombotic treatment (HR 1.97, 95%CI 1.05-3.72 and 2.09, 1.09-4.00, respectively).
- Published
- 2014
11. CALR MUTATIONS ARE RARE IN CHILDREN WITH ESSENTIAL THROMBOCYTHEMIA
- Author
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Peroni, E, Randi, Ml, Geranio, G, Bertozzi, I, Micalizzi, C, Ramenghi, U, Tucci, F, Notarangelo, Ld, Ladogana, S, Menna, G, Giordano, P, Farruggia, P, Russo, G, Jankovich, M, Basso, G, Fabris, F, and Putti, Mc
- Published
- 2014
12. Cerebral vein thrombosis in patients with Philadelphia-negative myelproliferative neoplasms
- Author
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Martinelli, I, De Stefano, V, Carobbio, A, Randi, Ml, Santarossa, C, Rambaldi, A, Finazi, Mc, Cervantes, F, Arellano Rodrigo, E, Rupoli, S, Canafoglia, L, Tieghi, A, Facchini, L, Betta, S, Vannucchi, Am, Pieri, L, Cacciola, Rossella Rosaria, Elli, Em, Spadea, A, and Barbui, T.
- Published
- 2014
13. Leukemia and Myelodysplasia Effect of Multiple Cytotoxic Therapy in Essential Thrombocythemia
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Randi Ml, Antonio Girolami, and Fabrizio Fabris
- Subjects
Male ,Cancer Research ,medicine.medical_specialty ,medicine.drug_class ,Antibiotics ,Gastroenterology ,Fatal Outcome ,Internal medicine ,Humans ,Hydroxyurea ,Medicine ,Cytotoxic T cell ,Busulfan ,Aged ,Aged, 80 and over ,Acute leukemia ,Antibiotics, Antineoplastic ,Leukemia ,business.industry ,Essential thrombocythemia ,Pipobroman ,Neoplasms, Second Primary ,Hematology ,Middle Aged ,medicine.disease ,Thrombosis ,Surgery ,Oncology ,Myelodysplastic Syndromes ,Female ,business ,Phosphorus Radioisotopes ,Thrombocythemia, Essential ,medicine.drug - Abstract
Essential thrombocythemia (ET) is a chronic myeloproliferative disorder characterized by increased risk of thrombosis and/or hemorrhages. Cytotoxic drugs are mostly used in patients at high risk for thrombotic complications, while their use is still debated in low risk patients because of the risk of leukemia or secondary neoplasm. We discuss the leukemic risk of available treatment strategies in a large cohort of patients. Over a 12 years period we treated 23 patients with busulfan (BU), 1 with pipobroman (Pi), 6 with 32P, 48 with hydroxyurea (HU) in 62 cases associated with acetyl salicylic acid (ASA) while 77 patients received ASA alone and 33 did not receive any therapy. We observed 2 cases of acute leukemia (AL) and 1 of myelodysplastic syndrome (MDS). One of these patients had been treated with 32P and Pi these after with and the other two with BU and HU. They represented 23% of all patients treated with more than 1 cytotoxic agent, 16.6% of 32P treated subjects, 4% of those with HU and 6.4% of those with BU. The case of MDS occurred in a 81 years old female and represents 4% of cases of ET over the 70 years of age. No cases of AL or MDS were observed in patients not receiving cytotoxic therapy (with or without ASA). According to our experience the use of more than one cytotoxic agent in ET confirms the increase in the risk of leukemia in these cases. However, none of the patients treated with HU alone, even for more than 10 years (12 cases) developed AL. No treatment or therapy with ASA alone may be the best choice in young patients with ET with a low risk of thrombotic complications.
- Published
- 2000
14. Practice-relevant revision of IPSET-thrombosis based on 1019 patients with WHO-defined essential thrombocythemia
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Barbui, T, Vannucchi, AM, Buxhofer-Ausch, V, DE STEFANO, VALERIO, BETTI, SILVIA, Rambaldi, A, Rumi, E, Ruggeri, M, Rodeghiero, F, Randi, ML, Bertozzi, I, Gisslinger, H, Finazzi, G, Carobbio, A, Thiele, J, Passamonti, F, Falcone, C, Tefferi, A, Barbui, T, Vannucchi, AM, Buxhofer-Ausch, V, DE STEFANO, VALERIO, BETTI, SILVIA, Rambaldi, A, Rumi, E, Ruggeri, M, Rodeghiero, F, Randi, ML, Bertozzi, I, Gisslinger, H, Finazzi, G, Carobbio, A, Thiele, J, Passamonti, F, Falcone, C, and Tefferi, A
- Published
- 2015
15. Thrombocytosis in Malignancy: A Paraneoplastic Syndrome?
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Randi Ml, Giuseppe Cella, C. Rossi, P. Zerbinati, and Antonio Girolami
- Subjects
medicine.medical_specialty ,Thrombocytosis ,Anemia ,business.industry ,medicine.medical_treatment ,Splenectomy ,Cancer ,Hematology ,Iron deficiency ,medicine.disease ,Malignancy ,Fibrinogen ,Gastroenterology ,Internal medicine ,Immunology ,medicine ,Platelet ,business ,medicine.drug - Abstract
An increased platelet number may be secondary to many conditions. Malignancies are known to induce thrombocytosis in some cases. We report data of paraneoplastic thrombocytosis recognized in 54 out of 159 patient (33.9%) with reactive thrombocytosis diagnosed in our department over the last 10 years. In most of our patients increased platelet count was observed at the time of diagnosis (33.7%) or during the first year thereafter (35.2%). Evidence of other causes for reactive thrombocytosis including iron deficiency, anemia, inflammatory diseases, surgical procedures including splenectomy, and drugs were observed in 74% of our patients. 35% of our subjects had non fatal hemorrhagic or thrombotic accidents. In about one half of our patients, increased levels of fibrinogen, ESR and plasma alpha2 globulins were observed while 5 hydroxytryptamine (5HT) intraplatelet level was normal in about all these patients. The diagnosis of paraneoplastic thrombocytosis must be postulated only after exclusion of all other reactive conditions. Often an increased platelet count in patients with cancer may be considered a reactive phenomenon.
- Published
- 1997
16. Cytoreductive combination therapy in essential trhombocythemia: preliminary report of the Registro Italiano trombocitemia (RIT)
- Author
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Gugliotta, L, Scalzulli, P, Tighi, A, Codeluppi, K, Valvano, R, Candoni, A, Chiozzotto, E, Liberati, M, Apolloni, V, Specchia, G, Cacciola, Emma, Cacciola, Rossella Rosaria, Mastrullo, R, Villa, M, Prugnola, M, Martinelli, V, Ciancia, R, Mazzucconi, Mg, Santoro, C, Campana, P, Randi, Ml, De Biasi, E, Maschio, N, Lanza, F, Antonioli, E, Pierri, I, Di Ianni, M, Iurlo, A, Piccin, A, and Cascavilla, N.
- Published
- 2012
17. A prognostic model to predict survival in 867 WHO-defined essential thrombocythemia at diagnosis: a study by the IWG-MRT
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Passamonti, Francesco, Thiele, J, Girodon, F, Rumi, E, Carobbio, A, Gisslinger, H, Kvasnicka, Hm, Ruggeri, M, Randi, Ml, Gangat, N, Vannucchi, Am, Gianatti, A, Gisslinger, B, Müllauer, L, Rodeghiero, F, D'Amore, Es, Bertozzi, I, Hanson, Ca, Boveri, E, Marino, F, Maffioli, M, Caramazza, D, Antonioli, E, Carrai, V, Buxhofer Ausch, V, Pascutto, C, Cazzola, M, Barbui, T, and Tefferi, A.
- Subjects
essential thrombocythemia ,survival ,prognosis - Published
- 2012
18. Extra-haematological adverse events in 1075 essential thrombocythemia patients treated with hydroxyurea: a preliminary report of the Registro Italiano Trombocitemia (RIT)
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Gugliotta, L, Tieghi, A, Piccin, A, Papayannidis, C, Candoni, A, Specchia, G, Passamonti, F, Scalzulli, Pr, Lunghi, M, Radaelli, F, Iurlo, A, Vannucchi, Am, Ciancia, R, Randi, Ml, Palmieri, F, Liberati, M, Mazzucconi, Mg, Cacciola, Rossella Rosaria, Cacciola, Emma, Dragani, A, Cimino, G, Mastrullo, L, Fecerici, Ab, Porretto, F, Lucchesi, A, Vinelli, N, FOR THE, MARTINELLI G., and Rit
- Published
- 2010
19. Hydroxyurea treatment in 1075 patients with essential thrombocythemia and occirrence of extra- hematological adverse events: a preliminary report of the Registro Italiano Trrombocitemia (RIT)
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Gugliotta, L, Papayannidis, C, Piccin, A, Pieghi, A, Vinelli, M, Scalzulli, Pr, Candoni, A, Dragani, A, Patriarca, A, Lunghi, M, Ciancia, R, Martionelli, V, Liberati, Am, Specchia, G, Imovilli, A, Vannucchi, Am, Maschio, A, Iurlo, A, Randi, Ml, Passamonti, F, Calmieri, Mazzucconi, Mg, LA TAGLIATA, R, Mastrullo, R, Cimino, G, Pierri, I, Cacciola, Emma, Lucchesi, A, Luraschi, A, Cozzani, E, Parodi, A, Martinelli, G, and Baccarani, M.
- Published
- 2010
20. Analysis of 339 pregnancies in 181 women with 13 different forms of inherited thrombocytopenia
- Author
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Noris, P, Schlegel, N, Klersy, C, Heller, Pg, Civaschi, E, Pujol Moix, N, Fabris, F, Favier, R, Gresele, P, Latger Cannard, V, Cuker, A, Nurden, P, Greinacher, A, Cattaneo, M, De Candia, Erica, Pecci, A, Hurtaud Roux, Mf, Glembotsky, Ac, Muñiz Diaz, E, Randi, Ml, Trillot, N, Bury, L, Lecompte, T, Marconi, C, Savoia, A, Balduini, C. l., De Candia, Erica (ORCID:0000-0003-0942-2819), Noris, P, Schlegel, N, Klersy, C, Heller, Pg, Civaschi, E, Pujol Moix, N, Fabris, F, Favier, R, Gresele, P, Latger Cannard, V, Cuker, A, Nurden, P, Greinacher, A, Cattaneo, M, De Candia, Erica, Pecci, A, Hurtaud Roux, Mf, Glembotsky, Ac, Muñiz Diaz, E, Randi, Ml, Trillot, N, Bury, L, Lecompte, T, Marconi, C, Savoia, A, Balduini, C. l., and De Candia, Erica (ORCID:0000-0003-0942-2819)
- Abstract
Pregnancy in women with inherited thrombocytopenias is a major matter of concern as both the mothers and the newborns are potentially at risk of bleeding. However, medical management of this condition cannot be based on evidence because of the lack of consistent information in the literature. To advance knowledge on this matter, we performed a multicentric, retrospective study evaluating 339 pregnancies in 181 women with 13 different forms of inherited thrombocytopenia. Neither the degree of thrombocytopenia nor the severity of bleeding tendency worsened during pregnancy, and the course of pregnancy was not different from that of healthy subjects in terms of miscarriages, fetal bleeding and preterm births. The degree of thrombocytopenia in the babies was similar to that in the mother. Only 7 of 156 affected newborns had delivery-related bleeding, but two of them died of cerebral hemorrhage. The frequency of delivery-related maternal bleeding ranged from 6.8 to 14.2% depending on the definition of abnormal blood loss, suggesting that the risk of risk of abnormal blood loss was increased with respect to the general population. However, no mother died or received hysterectomy to arrest bleeding. The search for parameters predicting delivery-related bleeding in the mother suggested that hemorrhages requiring blood transfusion were more frequent in women with history of severe bleedings before pregnancy and with platelet count at delivery lower than 50 x 109/L
- Published
- 2014
21. Cytoreductive Therapeutic Approach in the Essential Thrombocythemia (ET) Patients of the Registro Italiano Trombocitemia (RIT): Preliminary Data
- Author
-
Gugliotta, L., Tieghi, A., Candoni, A., Lunghi, M., Gaidano, G., Passamonti, F., Rumi, E., Dragani, A., Radaelli, F., Iurlo, A., Specchia, G., Carluccio, P., Scalzulli, Pr, Melillo, L., Martinelli, V., Ciancia, R., Randi, Ml, Vannucchi, A., Antonioli, E., De Biasi, E., Palmieri, F., Latagliata, R., Santoro, C., Liberati, Anna Marina, and All, Et
- Published
- 2008
22. Low frequency of VHL gene mutations in young individuals with polycythemia and high serum erythropoietin
- Author
-
Casarin, A., Martella, M., Putti, Mc, Murgia, A., Randi, Ml, Fabris, F., and Giuseppe Opocher
- Subjects
hTERC mutations ,telomerase ,myelodysplastic syndrome - Published
- 2005
23. Myocardial infarction, other arterial thrombosis and invasive coronary procedures, in hemaophilia B: a critical evaluation of reported cases
- Author
-
Randi Ml, Antonio Girolami, Elisabetta Ruzzon, Bruno Girolami, and Ezio Zanon
- Subjects
medicine.medical_specialty ,business.industry ,medicine.medical_treatment ,Coronary Thrombosis ,Myocardial Infarction ,Electrocardiography in myocardial infarction ,Infarction ,Hematology ,Heparin ,medicine.disease ,Thrombosis ,Hemophilia B ,Surgery ,Stroke ,Internal medicine ,Angioplasty ,Cryoprecipitate ,medicine ,Cardiology ,Myocardial infarction complications ,Humans ,Myocardial infarction ,Cardiology and Cardiovascular Medicine ,business ,medicine.drug - Abstract
Myocardial infarction and other arterial thrombosis are commonly maintained to be rare in hemophilia patients. This, in general, seems true but the occurrence of a thrombotic event in hemophilia B is not exceptional. A thorough search of the literature has yielded 13 patients with myocardial infarction and 1 patient with a cerebrovascular accident. There were three fatalities. In five cases MI occurred after infusion of Prothrombin Complex Concentrates. In three additional patients the event occurred after infusion of plasma, Feiba or cryoprecipitate supernatant. Four patients had an antero-lateral infarction. Two had a non-Q infarction and one each showed a multiple or a posterior-inferior form. Several therapeutic coronary procedures (GABG and PTCA) were carried out in hemophilia B patients without undue complication providing adequate level of FIX were maintained. Heparin prophilaxis was used in all patients but one. The analysis of the literature indicates that (1) MI may occur in hemophilia B patients and (2) that invasive coronary artery therapeutic procedures may be carried out without complications.
- Published
- 2005
24. Cardiovascular events and intensity of treatment in polycythemia vera
- Author
-
Marchioli, R, Finazzi, G, Specchia, G, Cacciola, R, Cavazzina, R, Cilloni, D, De Stefano, Valerio, Elli, E, Iurlo, A, Latagliata, R, Lunghi, F, Lunghi, M, Marfisi, Rm, Musto, P, Masciulli, A, Musolino, C, Cascavilla, N, Quarta, G, Randi, Ml, Rapezzi, D, Ruggeri, M, Rumi, E, Scortechini, Ar, Santini, S, Scarano, M, Siragusa, S, Spadea, A, Tieghi, A, Angelucci, E, Visani, G, Vannucchi, Am, Barbui, T., De Stefano, Valerio (ORCID:0000-0002-5178-5827), Marchioli, R, Finazzi, G, Specchia, G, Cacciola, R, Cavazzina, R, Cilloni, D, De Stefano, Valerio, Elli, E, Iurlo, A, Latagliata, R, Lunghi, F, Lunghi, M, Marfisi, Rm, Musto, P, Masciulli, A, Musolino, C, Cascavilla, N, Quarta, G, Randi, Ml, Rapezzi, D, Ruggeri, M, Rumi, E, Scortechini, Ar, Santini, S, Scarano, M, Siragusa, S, Spadea, A, Tieghi, A, Angelucci, E, Visani, G, Vannucchi, Am, Barbui, T., and De Stefano, Valerio (ORCID:0000-0002-5178-5827)
- Abstract
Current treatment recommendations for patients with polycythemia vera call for maintaining a hematocrit of less than 45%, but this therapeutic strategy has not been tested in a randomized clinical trial.
- Published
- 2013
25. Prothrombotic risk factors in cerebral sinus vein thrombosis
- Author
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Sartori, Mt, Zampieri, P, Randi, Ml, Spiezia, L, Munari, M, Maggioni, F, and Girolami, A
- Published
- 2002
26. Risk factors for thrombosis in patients with immune mediated heparin-induced thrombocytopenia
- Author
-
B. Soini, Antonio Girolami, R Ramon, Guido Luzzatto, Randi Ml, Raffaella Scandellari, and Fabrizio Fabris
- Subjects
Adult ,Male ,medicine.medical_specialty ,medicine.drug_class ,Severity of Illness Index ,Gastroenterology ,Antibodies ,Medical Records ,Risk Factors ,Internal medicine ,Heparin-induced thrombocytopenia ,Internal Medicine ,medicine ,Humans ,Orthopedic Procedures ,Platelet ,Vein ,Aged ,Retrospective Studies ,Aged, 80 and over ,Heparin ,business.industry ,Anticoagulant ,Anticoagulants ,Thrombosis ,Middle Aged ,medicine.disease ,Thrombocytopenia ,Surgery ,Venous thrombosis ,medicine.anatomical_structure ,Female ,Complication ,business ,medicine.drug - Abstract
Fabris F, Luzzatto G, Soini B, Ramon R, Scandellari R, Randi ML, Girolami A (University of Padua Medical School, Padova, Italy). Risk factors for thrombosis in patients with immune mediated heparin-induced thrombocytopenia. J Intern Med 2002; 252: 149–154. Background. As reported by major clinical series in the literature, about 2% of patients receiving unfractionated heparin (UFH) develop immune-mediated (type II) heparin-induced thrombocytopenia (HIT) that may be complicated in 30–75% of cases by a paradoxical thrombotic syndrome (HITTS), either arterial or venous. HITTS carries relevant rates of mortality and morbidity, amongst which cerebral and/or myocardial infarction and limb amputations. It is unclear as yet why some patients suffer from isolated thrombocytopenia (HIT), whilst others have HITTS. The aim of the present study was to look for clinical and laboratory features related to the occurrence of HITTS. Patients and methods. We retrospectively analysed the clinical records of 56 patients with proven HIT, as diagnosed on clinical grounds and by in vitro demonstration of immunoglobulin (IgG)/IgM against the PF4/heparin complex. Thirty-four patients (61%) had HITTS (19 venous thrombosis, seven arterial thrombosis, five arterial and venous thrombosis, two skin necrosis, one diffuse intravascular coagulation), whereas 22 had uncomplicated HIT. Amongst HITTS patients, two had limb amputation, five had recurrent thrombosis and seven died. Amongst HIT patients three died from causes unrelated to HIT. Results. No significant difference in sex, age, previous exposure to heparin, UFH route of administration or dose, duration of therapy, time of onset of thrombocytopenia and platelet count recovery, nor antiheparin/PF4 antibodies subtype (IgG or IgM) was detected when comparing HIT and HITTS. In contrast, in the HITTS group a higher prevalence of orthopaedic surgery (15 of 34 vs. 2/22; P=0.01), a significantly lower platelet count nadir (43 ± 32 vs. 75 ± 63 × 109/L; P=0.01) and a significantly higher titre of antiheparin/PF4 antibodies, expressed as optical density of enzyme-linked immunosorbent assay (ELISA); (1989 ± 1024 vs. 1277 ± 858; P=0.009), were observed in comparison with the HIT group. Amongst HITTS patients, the prevalence of venous thrombosis was significantly higher in orthopaedic patients and in those being treated for venous thromboembolism (18/24 vs. 1/9 patients, χ2 8.4, P=0.004), whilst arterial thrombosis (ART) occurred more often in heparin treatment for arterial disease (3/4 vs. 4/29 patients, χ2 4.6, P=0.03). Conclusions. Orthopaedic surgery, the severity of thrombocytopenia and high antiheparin/PF4 antibodies titre are adverse prognostic or concurrent factors in the development of HITTS.
- Published
- 2002
27. Incidence of Thrombocytosis in Lymphomas
- Author
-
F. Pietrogrande, Randi Ml, Barbone E, C. Rossi, and Antonio Girolami
- Subjects
Male ,Cancer Research ,Pathology ,medicine.medical_specialty ,Lymphoma ,Disease ,Gastroenterology ,Reactive thrombocytosis ,Bone Marrow ,immune system diseases ,hemic and lymphatic diseases ,Internal medicine ,medicine ,Humans ,Platelet ,Thrombocytosis ,Sex Characteristics ,Platelet Count ,business.industry ,Incidence (epidemiology) ,Hematology ,medicine.disease ,medicine.anatomical_structure ,Oncology ,Splenomegaly ,Female ,Bone marrow ,business ,Sex characteristics - Abstract
Reactive thrombocytosis due to malignancies and in particular those related to lymphomas have not yet been extensively evaluated. We report data on thrombocytosis recognized in 18 out of 101 patients with lymphomas diagnosed in our department over the last 3 years. All showed high platelet counts at the time of diagnosis. The incidence of thrombocytosis seems to be more frequent in males (21.2%) than in females (14.8%) and a slightly higher frequency was found in Hodgkin's disease (21.4%) than in non Hodgkin's lymphomas (16.4%). The incidence of thrombocytosis in lymphomas seems to be similar to that seen in other malignancies and because of this we conclude that a high platelet count cannot be used to distinguish malignancies.
- Published
- 1992
28. Which tests are most useful in distinguishing between reactive thrombocytosis and the thrombocytosis of myeloproliferative disease?
- Author
-
Antonio Girolami, Fabrizio Fabris, C. Rossi, and Randi Ml
- Subjects
Pathology ,medicine.medical_specialty ,Reactive thrombocytosis ,Thrombocytosis ,business.industry ,Medicine ,Myeloproliferative disease ,Hematology ,business ,medicine.disease - Published
- 2008
29. Clinical profile of homozygous JAK2 617V>F mutation in patients with polycythemia vera or essential thrombocythemia
- Author
-
Vannucchi, A, Antonioli, E, Guglielmelli, P, Rambaldi, A, Barosi, G, Marchioli, R, Marfisi, R, Finazzi, G, Guerini, V, Fabris, F, Randi, M, De Stefano, V, Caberlon, S, Tafuri, A, Ruggeri, M, Specchia, G, Liso, V, Rossi, E, Pogliani, E, Gugliotta, L, Bosi, A, Barbui, T, Vannucchi, AM, Marfisi, RM, Randi, ML, Barbui, T., POGLIANI, ENRICO MARIA, Vannucchi, A, Antonioli, E, Guglielmelli, P, Rambaldi, A, Barosi, G, Marchioli, R, Marfisi, R, Finazzi, G, Guerini, V, Fabris, F, Randi, M, De Stefano, V, Caberlon, S, Tafuri, A, Ruggeri, M, Specchia, G, Liso, V, Rossi, E, Pogliani, E, Gugliotta, L, Bosi, A, Barbui, T, Vannucchi, AM, Marfisi, RM, Randi, ML, Barbui, T., and POGLIANI, ENRICO MARIA
- Abstract
JAK2 617V>F mutation occurs in a homozygous state in 25% to 30% of patients with polycythemia vera (PV) and 2% to 4% with essential thrombocythemia (ET). Whether homozygosity associates with distinct clinical phenotypes is still under debate. This retrospective multicenter study considered 118 JAK2 617V>F homozygous patients (104 PV, 14 ET) whose clinical characteristics were compared with those of 587 heterozygous and 257 wild-type patients. Irrespective of their clinical diagnosis, homozygous patients were older, displayed a higher leukocyte count and hematocrit value at diagnosis, and presented larger spleen volume. Aquagenic pruritus was significantly more common among homozygous PV patients. JAK2 617V>F homozygosity associated with more frequent evolution into secondary myelofibrosis in both PV and ET. After adjustment for sex, age, leukocyte count, and previous thrombosis in a multivariate analysis, homozygous ET patients displayed a significantly higher risk of cardiovascular events (hazard ratio [HR] 3.97, 95% confidence interval [CI] 1.34-11.7; P = .013) than wild-type (HR = 1.0) or heterozygous patients (HR = 1.49). No significant association of JAK2 617V>F homozygosity with thrombosis risk was observed in PV. Finally, JAK2 617V>F homozygous patients were more likely to receive chemotherapy for control of disease. We conclude that JAK2 617V>F homozygosity identifies PV or ET patients with a more symptomatic myeloproliferative disorder and is associated with a higher risk of major cardiovascular events in patients with ET.
- Published
- 2007
30. Acute leukemia in polycythemia vera: an analysis of 1638 patients enrolled in a prospective observational study
- Author
-
Finazzi, G, Caruso, V, Marchioli, R, Capnist, G, Chisesi, T, Finelli, C, Gugliotta, L, Landolfi, R, Kutti, J, Gisslinger, H, Marilus, R, Patrono, C, Pogliani, E, Randi, M, Villegas, A, Tognoni, G, Barbui, T, Randi, ML, Barbui, T., POGLIANI, ENRICO MARIA, Finazzi, G, Caruso, V, Marchioli, R, Capnist, G, Chisesi, T, Finelli, C, Gugliotta, L, Landolfi, R, Kutti, J, Gisslinger, H, Marilus, R, Patrono, C, Pogliani, E, Randi, M, Villegas, A, Tognoni, G, Barbui, T, Randi, ML, Barbui, T., and POGLIANI, ENRICO MARIA
- Abstract
Progression to acute myeloid leukemia/myelodysplastic syndromes (AML/MDS) is a possible evolution of polycythemia vera (PV), but whether some patients are at increased natural risk for this complication and how much the contribution of pharmacologic cytoreduction can affect the natural course of the disease remain uncertain. The European Collaboration on Low-dose Aspirin in Polycythemia Vera (ECLAP) prospective project included 1638 patients with PV. AML/MDS was diagnosed in 22 patients after a median of 2.5 years from recruitment in the study and a median of 8.4 years from the diagnosis of PV. Variables associated with progression to AML/MDS were assessed using different models of multivariate analysis. Older age was confirmed as the main independent risk factor (hazard ratio [HR], 4.30; 95% confidence interval [95% CI], 1.16-15.94; P = .0294), whereas overall disease duration failed to reach statistical significance (more than 10 years: HR, 1.91; 95% CI, 0.64-5.69; P = .2466). Exposure to P32, busulphan, and pipobroman (HR, 5.46; 95% CI, 1.84-16.25; P = .0023), but not to hydroxyurea (HU) alone (HR, 0.86; 95% CI, 0.26-2.88; P = .8021), had an independent role in producing an excess risk for progression to AML/MDS compared with treatment with phlebotomy or interferon.
- Published
- 2005
31. Haemolytic uraemic syndrome during treatment with ketorolac trometamol
- Author
-
Guido Luzzatto, Antonio Girolami, Tison T, and Randi Ml
- Subjects
medicine.medical_specialty ,Tromethamine ,Ketorolac Tromethamine ,Ketorolac trometamol ,medicine ,Humans ,Tolmetin ,General Environmental Science ,business.industry ,Anti-Inflammatory Agents, Non-Steroidal ,General Engineering ,General Medicine ,Middle Aged ,Surgery ,Drug Combinations ,Anesthesia ,Hemolytic-Uremic Syndrome ,General Earth and Planetary Sciences ,Female ,Haemolytic-uraemic syndrome ,business ,medicine.drug ,Research Article - Published
- 1993
32. Multiple, relapsing thrombosis in a young man with primary thrombocytosis
- Author
-
Fabrizio Fabris, Antonio Girolami, Stocco F, Tison T, and Randi Ml
- Subjects
Male ,Thrombocytosis ,medicine.medical_specialty ,business.industry ,Myocardial Infarction ,Autopsy ,Thrombosis ,Hematology ,General Medicine ,Middle Aged ,medicine.disease ,Recurrence ,Internal medicine ,medicine ,Cardiology ,Humans ,Myocardial infarction ,business ,Pulmonary Embolism - Abstract
We report the case of a relatively young man with multiple and fatal thrombosis associated with essential thrombocythaemia. The clinical and laboratory examinations performed before his death were in agreement with the diagnostic criteria proposed by PVSG. The autopsy revealed myocardial infarction and pulmonary embolisms. This case suggests that young patients with primary thrombocytosis should be treated with antiplatelet agents in spite of the absence of other thrombotic risks.
- Published
- 1990
33. Normal pregnancy and delivery in essential thrombocythemia even without interferon therapy
- Author
-
Antonio Girolami, Barbone E, and Randi Ml
- Subjects
Pregnancy ,medicine.medical_specialty ,Essential thrombocythemia ,business.industry ,Interferon therapy ,Alpha interferon ,Hematology ,Normal pregnancy ,medicine.disease ,Bioinformatics ,Surgery ,Text mining ,medicine ,business - Published
- 1994
34. A 40-year-old man with recurrent fainting, hypotension, lower limb edema and oliguria with body weight gain and secondary erythrocytosis.
- Author
-
Berti de Marinis G, Bertozzi I, Allemand E, Tezza F, Randi ML, Naso A, Fabris F, Berti de Marinis, Giulia, Bertozzi, Irene, Allemand, Emanuele, Tezza, Fabiana, Randi, Maria Luigia, Naso, Agostino, and Fabris, Fabrizio
- Published
- 2012
35. Hydroxyurea in old patients with essential thrombocythemia.
- Author
-
Randi ML, Ruzzon E, Piccoli A, Tezza F, Scapin M, Scandellari R, and Fabris F
- Abstract
BACKGROUND AND AIMS: A previous thrombotic event and advanced age are well-known risk factors for thrombosis in essential thrombocythemia (ET). In these patients, therefore, cytotoxic drugs are needed to reduce platelet count. In spite of this convincing idea, in clinical practice, some old patients do not use platelet-reducing drugs, for a variety of causes, and few specific studies in old patients with ET are available. Our retrospective study reports single-center experience in 54 old ET patients with long follow-ups. METHODS: We compared the clinical outcome of 27 ET old patients not taking cytotoxic drugs (group A) with 27 cases treated with hydroxyurea (HU) (group B), evaluating the incidence of thrombosis and thrombosis-free survival. In 16 patients in group A and in 18 in group B, V617FJak2 mutation was sought. About 20% of HU-treated patients developed major side-effects. RESULTS: No significant difference was found in the occurred thrombosis between the 2 groups in either clinical or laboratory features. V617FJak2 was equally common in groups A and B, and in patients with or without thrombosis. CONCLUSIONS: This study is not randomised and includes a small number of patients. However, it shows that it is necessary to identify better patients who really need treatment, as the side-effects of HU are relatively common in old people and their treatment should be discontinued. V617FJak2 does not define the thrombotic risk in old ET patients. [ABSTRACT FROM AUTHOR]
- Published
- 2008
- Full Text
- View/download PDF
36. Normal thrombopoietin and its receptor (c-mpl) genes in children with essential thrombocythemia.
- Author
-
Randi ML, Putti MC, Pacquola E, Luzzatto G, Zanesco L, and Fabris F
- Published
- 2005
- Full Text
- View/download PDF
37. Increased Number of Pseudodrumsticks in Neutrophils and Large Platelets. A 'New' Congenital Leukocyte and Platelet Morphological Abnormality.
- Author
-
Girolami, A., Fabris, F., Casonato, A., and Randi, ML.
- Published
- 1980
- Full Text
- View/download PDF
38. Contents, Vol. 64, 1980
- Author
-
Antonio Girolami, A. Oliveros, Shlomo Bar-Sela, G. Buzzigoli, Meir Shalit, M. Torres, Y. van Laethem, H. Breitbart, Celia Marta Riera Vázquez, S.M. Lewis, A. Efira, Y Naparstek, D.M. McCarthy, Oliviero Olivieri, R. Corrocher, J. Unger, Randi Ml, A. Pennacchioni, E. Trevisoi, G. Betti, A. Torres, Fabrizio Fabris, G. De Sandre, Franco Capra, Alessandra Casonato, J.F. Lucia, D.G. Oscier, Z. Malik, Peter Zahler, M. Gonella, Avigdor Leviatan, M. Ectors, M. Rychetnik, Walter Bencivelli, Giancarlo Falezza, V. Bartolini, B.J. Boughton, Klaus A. Neftel, and D.W. Jerrome
- Subjects
Hematology ,General Medicine - Published
- 1980
39. Increased Number of Pseudodrumsticks in Neutrophils and Large Platelets. A ‘New’ Congenital Leukocyte and Platelet Morphological Abnormality
- Author
-
Fabrizio Fabris, Randi Ml, Antonio Girolami, and Alessandra Casonato
- Subjects
Adult ,Blood Platelets ,Cell Nucleus ,Male ,Pathology ,medicine.medical_specialty ,Neutrophils ,business.industry ,Large Platelets ,Hematology ,General Medicine ,Hematologic Diseases ,Italy ,Morphological abnormality ,Immunology ,medicine ,Humans ,Platelet ,Abnormality ,Mean platelet volume ,Child ,business - Abstract
2 members of a family, a child and his father, showed a combined morphological abnormality of leukocytes and platelets. The abnormality consisted of the presence of pseudodrumsticks in the neutrophils and of large platelets. One or more than one pseudodrumstick was present in about 40% of neutrophils. Leukocyte count, differential count and enzymatic stains were normal. Large platelets constituted about 25% of the platelet population. 1 patient also had mild thrombocytopenia which appeared to be unrelated to the basic defect since it appeared after a parotitis infection. Platelet function was normal but for a moderate prolongation of the bleeding time in the patient who had mild thrombocytopenia. No chromosomal abnormality was present in the propositi. The condition seems different from other leukocyte and platelet abnormalities so far described.
- Published
- 1980
40. Subject Index, Vol. 64, 1980
- Author
-
Avigdor Leviatan, M. Ectors, Antonio Girolami, Celia Marta Riera Vázquez, Meir Shalit, Yaakov Naparstek, Klaus Neftel, Fabrizio Fabris, A. Oliveros, M. Rychetnik, E. Trevisoi, G. Buzzigoli, Franco Capra, M. Gonella, M. Torres, Peter Zahler, Y. van Laethem, G. Betti, G. De Sandre, H. Breitbart, D.M. McCarthy, Walter Bencivelli, Randi Ml, Alessandra Casonato, A. Torres, A. Efira, J.F. Lucia, D.G. Oscier, Z. Malik, V. Bartolini, B.J. Boughton, J. Unger, Oliviero Olivieri, R. Corrocher, D.W. Jerrome, S.M. Lewis, Giancarlo Falezza, A. Pennacchioni, and Shlomo Bar-Sela
- Subjects
Index (economics) ,Statistics ,Subject (documents) ,Hematology ,General Medicine ,Mathematics - Published
- 1980
41. The significance of thrombocytosis in old age
- Author
-
C. Vio, Alessandra Casonato, Randi Ml, Antonio Girolami, and Fabrizio Fabris
- Subjects
Adult ,Male ,medicine.medical_specialty ,Aging ,Hemorrhage ,Hematocrit ,Gastroenterology ,Polycythemia vera ,hemic and lymphatic diseases ,Internal medicine ,Thromboembolism ,medicine ,Humans ,Platelet ,Myelofibrosis ,Aged ,Retrospective Studies ,Thrombocytosis ,medicine.diagnostic_test ,Essential thrombocythemia ,business.industry ,Retrospective cohort study ,Hematology ,General Medicine ,Middle Aged ,medicine.disease ,Thrombosis ,Surgery ,Cerebrovascular Disorders ,Ischemic Attack, Transient ,Female ,business - Abstract
We performed a retrospective study on 21 patients, aged 70 years or more, affected by polycythemia vera (PV) or essential thrombocythemia (ET). As controls, we evaluated 10 younger ET patients. The results indicate that in older ET subjects there was a lower incidence of hemorrhagic and thrombotic complications than in younger patients and PV patients. However, platelet number and platelet function tests were similar in all the patients studied. We suppose that an increase in hematocrit as seen in PV is much more dangerous as compared to an isolated increase in platelet count, and that thrombocytosis alone in old age can be an isolated expression of a natural involution of blood marrow similar to myelofibrosis.
- Published
- 1987
42. Abnormal Platelet Aggregation in Patients with Bartter’s Syndrome
- Author
-
Randi Ml, Franco Mantero, Alessandra Casonato, Giuseppe Opocher, Antonio Girolami, and Fabrizio Fabris
- Subjects
medicine.medical_specialty ,endocrine system diseases ,urogenital system ,Abnormal platelet aggregation ,business.industry ,Juxtaglomerular cell ,urologic and male genital diseases ,medicine.disease ,Hyperaldosteronism ,female genital diseases and pregnancy complications ,Hypokalemia ,chemistry.chemical_compound ,Bartter's syndrome ,Endocrinology ,medicine.anatomical_structure ,Urinary excretion ,chemistry ,Internal medicine ,medicine ,lipids (amino acids, peptides, and proteins) ,Arachidonic acid ,In patient ,medicine.symptom ,business - Abstract
Bartter’s syndrome is characterized by hypokalemia, hyperreninemia, hyperaldosteronism without hypertension, and juxtaglomerular cell hyperplasia.1 Recent studies have demonstrated an increase of the urinary excretion of prostaglandins (PGs) PGE2, PGF2α 2–4 and 6-keto PGF1α 5,6 in cases of Bartter’s syndrome.
- Published
- 1983
43. Clinical significance of beta-thromboglobulin in patients with high platelet count
- Author
-
Fabrizio Fabris, Alessandra Casonato, Randi Ml, Antonio Girolami, R. Dal Bo Zanon, and P. Bonvicini
- Subjects
Adult ,Male ,medicine.medical_specialty ,High platelet count ,Serotonin ,Platelet Aggregation ,Beta-Globulins ,Internal medicine ,medicine ,Humans ,Platelet ,In patient ,Clinical significance ,Polycythemia Vera ,Aged ,Thrombocytosis ,Myeloproliferative Disorders ,business.industry ,Platelet Count ,Hematology ,General Medicine ,Middle Aged ,medicine.disease ,beta-Thromboglobulin ,Endocrinology ,Beta-thromboglobulin ,Leukemia, Myeloid ,Female ,business ,Thrombocythemia, Essential - Abstract
The aim of the study was to investigate the relevance of beta-thromboglobulin (beta tg) measurement in patients with thrombocytosis. We have, therefore, studied the level of plasma and platelet beta tg in 74 patients with high platelet count in addition to the evaluation of platelet aggregation and platelet serotonin (5-HT) content. The determinations of platelet serotonin content and aggregation are confirmed to be useful in the differentiation between primary and secondary forms of thrombocytosis. The mean plasma level of beta tg in patients with myeloproliferative disease was significantly raised, but the amount observed in subjects with secondary thrombocytosis is increased too. Considering the amount of beta tg in relation to whole blood platelet count (beta tg ratio), no difference was observed between all patients and controls. The beta tg ratio allowed the identification of a group of patients with an increased ratio and a decreased beta tg platelet content who showed the highest occurrence of thrombosis (66%).
- Published
- 1984
44. Potentiation of anticoagulant response to warfarin by sulphinpyrazone: a double-blind study in patients with prosthetic heart valves
- Author
-
Fabrizio Fabris, Alessandra Casonato, Antonio Girolami, and Randi Ml
- Subjects
Adult ,Male ,medicine.medical_specialty ,medicine.drug_class ,Placebo ,Double blind study ,Double-Blind Method ,Internal medicine ,medicine ,Humans ,heterocyclic compounds ,In patient ,cardiovascular diseases ,Prosthetic heart ,Bleeding episodes ,business.industry ,Anticoagulant ,Warfarin ,Drug Synergism ,Hematology ,Middle Aged ,Sulfinpyrazone ,Anesthesia ,Heart Valve Prosthesis ,Cardiology ,Female ,business ,medicine.drug - Abstract
The effect of Sulphinpyrazone on the anticoagulant response to Warfarin was evaluated by a double-blind study in 11 patients with prosthetic heart valves. Six patients received Warfarin and Sulphinpyrazone and 5 Warfarin and placebo. Sulphinpyrazone potentiated the anticoagulant effect of Warfarin. Patients receiving Sulphinpyrazone needed about half the amount of Warfarin as compared to the control group. There were four bleeding episodes in the Sulphinpyrazone group and one episode in the control group. It was difficult to regulate the dose of Warfarin in patients also receiving Sulphinpyrazone.
- Published
- 1982
45. Points: Biphasic sulphinpyrazone-warfarin interaction
- Author
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Randi Ml, F Fabris, L Schivazappa, and Antonio Girolami
- Subjects
business.industry ,Correspondence ,General Engineering ,Warfarin ,General Earth and Planetary Sciences ,Medicine ,General Medicine ,business ,Bioinformatics ,General Environmental Science ,medicine.drug - Published
- 1981
46. Analysis of 339 pregnancies in 181 women with 13 different forms of inherited thrombocytopenia
- Author
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Paula G. Heller, Loredana Bury, Catherine Trichet, Nuria Pujol-Moix, Alessandro Pecci, Fabrizio Fabris, Maria Luigia Randi, Ana C. Glembotsky, Marco Cattaneo, Adam Cuker, Jeanne-Yvonne Borg, Nathalie Trillot, James B. Bussel, Patrizia Noris, E Muniz-Diaz, François Lanza, Lucia Dora Notarangelo, Dominique Martin-Coignard, Anne Bauters, Paolo Gresele, Thomas Lecompte, Catherine Klersy, Sandra Mercier, Giuseppe Loffredo, Marie-Françoise Hurtaud-Roux, Véronique Le Cam Duchez, Emanuela Falcinelli, Nicole Schlegel, Erica De Candia, Dino Veneri, Schéhérazade Benabdallah-Guedira, Fanny Menard, Catherine Pouymayou, Ilaria Nichele, Chloé James, Michela Faleschini, Elisa Civaschi, Caterina Marconi, Roberta Bottega, Tommaso Pippucci, Pierre Sié, Sophie Bayart, Béatrice Saposnik, Daniela De Rocco, Rémi Favier, Françoise Boehlen, Pierre Fontana, Alina Ferster, Anna Savoia, Carlo L. Balduini, Pamela Magini, Bruno Royer, Véronique Latger-Cannard, Alessandra Tucci, Dominique Fleury, Agnes Rigouzzo, Tiziana Fierro, Gian Marco Podda, Emmanuel de Maistre, Silvia Ferrari, Paquita Nurden, Pietro Minuz, Andreas Greinacher, Virginie Siguret, A. M. Mezzasoma, Patrizia, Nori, Nicole, Schlegel, Catherine, Klersy, Paula G., Heller, Elisa, Civaschi, Nuria Pujol, Moix, Fabrizio, Fabri, Remi, Favier, Paolo, Gresele, Véronique Latger, Cannard, Adam, Cuker, Paquita, Nurden, Andreas, Greinacher, Marco, Cattaneo, Erica De, Candia, Alessandro, Pecci, Marie Françoise Hurtaud, Roux, Ana C., Glembotsky, Eduardo Muñiz, Diaz, Maria Luigia, Randi, Nathalie, Trillot, Loredana, Bury, Thomas, Lecompte, Caterina, Marconi, Savoia, Anna, Carlo L., Balduini, Sophie, Bayart, Anne, Bauter, Schéhérazade Benabdallah, Guedira, Françoise, Boehlen, Jeanne Yvonne, Borg, Bottega, Roberta, James, Bussel, DE ROCCO, Daniela, Emmanuel de, Maistre, Faleschini, Michela, Emanuela, Falcinelli, Silvia, Ferrari, Alina, Ferster, Tiziana, Fierro, Dominique, Fleury, Pierre, Fontana, Chloé, Jame, Francois, Lanza, Véronique Le Cam, Duchez, Giuseppe, Loffredo, Pamela, Magini, Dominique Martin, Coignard, Fanny, Menard, Sandra, Mercier, Annamaria, Mezzasoma, Pietro, Minuz, Ilaria, Nichele, Lucia D., Notarangelo, Tommaso, Pippucci, Gian Marco, Podda, Catherine, Pouymayou, Agnes, Rigouzzo, Bruno, Royer, Pierre, Sie, Virginie, Siguret, Catherine, Trichet, Alessandra, Tucci, Béatrice, Saposnik, Dino, Veneri, Noris P, Schlegel N, Klersy C, Heller PG, Civaschi E, Pujol-Moix N, Fabris F, Favier R, Gresele P, Latger-Cannard V, Cuker A, Nurden P, Greinacher A, Cattaneo M, De Candia E, Pecci A, Hurtaud-Roux MF, Glembotsky AC, Muñiz-Diaz E, Randi ML, Trillot N, Bury L, Lecompte T, Marconi C, Savoia A, and Balduini CL
- Subjects
Pediatrics ,Blood transfusion ,medicine.medical_treatment ,PLAQUETAS ,Medicina Clínica ,Retrospective Studie ,Pregnancy ,purl.org/becyt/ford/3.2 [https] ,inherited thrombocytopenia ,Young adult ,ddc:616 ,education.field_of_study ,Hematology ,Medicine (all) ,TROMBOCITOPENIA ,Articles ,platelets ,purl.org/becyt/ford/3 [https] ,Female ,Medicina Critica y de Emergencia ,Human ,Adult ,medicine.medical_specialty ,CIENCIAS MÉDICAS Y DE LA SALUD ,Population ,Humans ,Infant, Newborn ,Pregnancy Complications, Hematologic ,Retrospective Studies ,Thrombocytopenia ,Young Adult ,NO ,bleeding risk ,Hematologic ,Internal medicine ,medicine ,education ,Fetus ,Hysterectomy ,business.industry ,Inherited thrombocytopenias ,DIÁMETRO PLAQUETARIO ,Infant ,Retrospective cohort study ,pregnancy ,medicine.disease ,Newborn ,Pregnancy Complications ,Settore MED/15 - MALATTIE DEL SANGUE ,HEREDITARIA ,business - Abstract
Pregnancy in women with inherited thrombocytopenias is a major matter of concern as both the mothers and the newborns are potentially at risk of bleeding. However, medical management of this condition cannot be based on evidence because of the lack of consistent information in the literature. To advance knowledge on this matter, we performed a multicentric, retrospective study evaluating 339 pregnancies in 181 women with 13 different forms of inherited thrombocytopenia. Neither the degree of thrombocytopenia nor the severity of bleeding tendency worsened during pregnancy and the course of pregnancy did not differ from that of healthy subjects in terms of miscarriages, fetal bleeding and pre-term births. The degree of thrombocytopenia in the babies was similar to that in the mother. Only 7 of 156 affected newborns had delivery-related bleeding, but 2 of them died of cerebral hemorrhage. The frequency of delivery-related maternal bleeding ranged from 6.8% to 14.2% depending on the definition of abnormal blood loss, suggesting that the risk of abnormal blood loss was increased with respect to the general population. However, no mother died or had to undergo hysterectomy to arrest bleeding. The search for parameters predicting delivery-related bleeding in the mother suggested that hemorrhages requiring blood transfusion were more frequent in women with history of severe bleedings before pregnancy and with platelet count at delivery below 50 × 10(9)/L. Fil: Noris, Patrizia. Istituti di Ricovero e Cura a Carattere Scientifico. Policlinico San Matteo di Pavia; Italia. Università degli Studi di Pavia; Italia Fil: Schlegel, Nicole. Université Paris Diderot - Paris 7; Francia Fil: Klersy, Catherine. Istituti di Ricovero e Cura a Carattere Scientifico. Policlinico San Matteo di Pavia; Italia Fil: Heller, Paula Graciela. Consejo Nacional de Investigaciones Científicas y Técnicas. Oficina de Coordinación Administrativa Houssay. Instituto de Investigaciones Médicas. Universidad de Buenos Aires. Facultad de Medicina. Instituto de Investigaciones Médicas; Argentina Fil: Civaschi, Elisa. Università degli Studi di Pavia; Italia Fil: Pujol Moix, Nuria. Universitat Autònoma de Barcelona; España Fil: Fabris, Fabrizio. Università di Padova; Italia Fil: Favier, Remi. Inserm; Francia. Armand Trousseau Children’s Hospital; Francia. French Reference Center for Inherited Platelet disorders; Francia Fil: Gresele, Paolo. Università di Perugia; Italia Fil: Latger Cannard, Véronique. Centre Hospitalo-Universitaire. Service d’Hématologie Biologique; Francia. Reference French Centre. Centre de Compétence Nord-Est des Pathologies Plaquettaires; Francia Fil: Cuker, Adam. University of Pennsylvania; Estados Unidos Fil: Nurden, Paquita. Hôpital Xavier Arnozan; Francia Fil: Greinacher, Andreas. Institut für Immunologie und Transfusionsmedizin; Alemania Fil: Cattaneo, Marco. Università degli Studi di Milano; Italia Fil: De Candia, Erica. Università Cattolica del Sacro Cuore; Italia Fil: Pecci, Alessandro. Università degli Studi di Pavia; Italia Fil: Hurtaud Roux, Marie Françoise. Université Paris Diderot - Paris 7; Francia Fil: Glembotsky, Ana Claudia. Consejo Nacional de Investigaciones Científicas y Técnicas. Oficina de Coordinación Administrativa Houssay. Instituto de Investigaciones Médicas. Universidad de Buenos Aires. Facultad de Medicina. Instituto de Investigaciones Médicas; Argentina Fil: Muñiz Diaz, Eduardo. Banc de Sang i Teixits de Catalunya. Immunohematology Department; España Fil: Randi, Maria Luigia. Università di Padova; Italia Fil: Trillot, Nathalie. Centre Hospitalier Régional Universitaire de Lille. Pôle Biologie Pathologie Génétique. Institut d’Hématologie-Transfusion; Francia Fil: Bury, Loredana. Università di Perugia; Italia Fil: Lecompte, Thomas. Hôpitaux Universitaires de Genève; Suiza. Université de Genève. Faculté de Médecine; Suiza Fil: Marconi, Caterina. Università di Bologna; Italia Fil: Savoia, Anna. Università degli Studi di Trieste; Italia Fil: Balduini, Carlo L.. Istituti di Ricovero e Cura a Carattere Scientifico Burlo Garofolo. Institute for Maternal and Child Health; Italia. Università degli Studi di Pavia; Italia Fil: European Hematology Association Scientific Working Group on Thrombocytopenias and Platelet Function Disorders. No especifica
- Published
- 2014
47. Impact of HFE mutations on thrombotic risk in patients with idiopathic erythrocytosis: A single-centre study.
- Author
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Bertozzi I, Benetti A, Cosi E, Zerbinati M, Fortino C, Randi ML, and Simioni P
- Abstract
Competing Interests: The authors declare no conflicts of interest.
- Published
- 2024
- Full Text
- View/download PDF
48. Long-term pharmacodynamic and clinical effects of twice- versus once-daily low-dose aspirin in essential thrombocythemia: The ARES trial.
- Author
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Rocca B, Tosetto A, Petrucci G, Rossi E, Betti S, Soldati D, Iurlo A, Cattaneo D, Bucelli C, Dragani A, Di Ianni M, Ranalli P, Palandri F, Vianelli N, Beggiato E, Lanzarone G, Ruggeri M, Carli G, Elli EM, Renso R, Randi ML, Bertozzi I, Loscocco GG, Ricco A, Specchia G, Vannucchi AM, Rodeghiero F, De Stefano V, and Patrono C
- Subjects
- Humans, Male, Middle Aged, Female, Aged, Adult, Thromboxane B2 blood, Platelet Activation drug effects, Aged, 80 and over, Treatment Outcome, Aspirin administration & dosage, Aspirin therapeutic use, Thrombocythemia, Essential drug therapy, Thrombocythemia, Essential blood, Platelet Aggregation Inhibitors administration & dosage, Platelet Aggregation Inhibitors therapeutic use, Platelet Aggregation Inhibitors adverse effects, Drug Administration Schedule, Hemorrhage chemically induced
- Abstract
Patients with essential thrombocythemia (ET) are treated with once-daily low-dose aspirin to prevent thrombosis, but their accelerated platelet turnover shortens the antiplatelet effect. The short-term Aspirin Regimens in EsSential Thrombocythemia trial showed that twice-daily aspirin dosing restores persistent platelet thromboxane (TX) inhibition. However, the long-term pharmacodynamic efficacy, safety and tolerability of twice-daily aspirin remain untested. We performed a multicenter, randomized, open-label, blinded-endpoint, phase-2 trial in which 242 patients with ET were randomized to 100 mg aspirin twice- or once-daily and followed for 20 months. The primary endpoint was the persistence of low serum TXB
2 , a surrogate biomarker of antithrombotic efficacy. Secondary endpoints were major and clinically relevant non-major bleedings, serious vascular events, symptom burden assessed by validated questionnaires, and in vivo platelet activation. Serum TXB2 was consistently lower in the twice-daily versus once-daily regimen on 10 study visits over 20 months: median 3.9 ng/mL versus 19.2 ng/mL, respectively; p < .001; 80% median reduction; 95% CI, 74%-85%. No major bleeding occurred. Clinically relevant non-major bleedings were non-significantly higher (6.6% vs. 1.7%), and major thromboses lower (0.8% vs. 2.5%) in the twice-daily versus once-daily group. Patients on the twice-daily regimen had significantly lower frequencies of disease-specific symptoms and severe hand and foot microvascular pain. Upper gastrointestinal pain was comparable in the two arms. In vivo platelet activation was significantly reduced by the twice-daily regimen. In patients with ET, twice-daily was persistently superior to once-daily low-dose aspirin in suppressing thromboxane biosynthesis and reducing symptom burden, with no detectable excess of bleeding and gastrointestinal discomfort., (© 2024 The Author(s). American Journal of Hematology published by Wiley Periodicals LLC.)- Published
- 2024
- Full Text
- View/download PDF
49. TFR2 gene alterations in idiopathic erythrocytosis reinforce a possible relation between erythrocytosis and iron metabolism.
- Author
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Benetti A, Bertozzi I, and Randi ML
- Published
- 2024
- Full Text
- View/download PDF
50. Coexistence of Multiple Gene Variants in Some Patients with Erythrocytoses.
- Author
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Benetti A, Bertozzi I, Ceolotto G, Cortella I, Regazzo D, Biagetti G, Cosi E, and Randi ML
- Abstract
Background: Erythrocytosis is a relatively common condition; however, a large proportion of these patients (70%) remain without a clear etiologic explanation., Methods: We set up a targeted NGS panel for patients with erythrocytosis, and 118 sporadic patients with idiopathic erythrocytosis were studied., Results: In 40 (34%) patients, no variant was found, while in 78 (66%), we identified at least one germinal variant; 55 patients (70.5%) had 1 altered gene, 18 (23%) had 2 alterations, and 5 (6.4%) had 3. An altered HFE gene was observed in 51 cases (57.1%), EGLN1 in 18 (22.6%) and EPAS1 , EPOR , JAK2 , and TFR2 variants in 7.7%, 10.3%, 11.5%, and 14.1% patients, respectively. In 23 patients (19.45%), more than 1 putative variant was found in multiple genes., Conclusions: Genetic variants in patients with erythrocytosis were detected in about 2/3 of our cohort. An NGS panel including more candidate genes should reduce the number of cases diagnosed as "idiopathic" erythrocytosis in which a cause cannot yet be identified. It is known that HFE variants are common in idiopathic erythrocytosis. TFR2 alterations support the existence of a relationship between genes involved in iron metabolism and impaired erythropoiesis. Some novel multiple variants were identified. Erythrocytosis appears to be often multigenic., Competing Interests: Competing interests: The authors declare no conflict of Interest.
- Published
- 2024
- Full Text
- View/download PDF
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