964 results on '"DE STEFANO, V"'
Search Results
2. Aplicaciones clínicas, experimentales y resultados del uso de diferentes dispositivos de aspiración en la cirugía intrarrenal retrógrada. Revisión sistemática
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Giulioni, C., Castellani, D., Traxer, O., Gadzhiev, N., Pirola, G.M., Tanidir, Y., Da Silva, R.D., Glover, X., Giusti, G., Proietti, S., Mulawkar, P.M., De Stefano, V., Cormio, A., Teoh, J.Y.-C., Galosi, A.B., Somani, B.K., Emiliani, E., and Gauhar, V.
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- 2024
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3. Experimental and clinical applications and outcomes of using different forms of suction in retrograde intrarenal surgery. Results from a systematic review
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Giulioni, C., Castellani, D., Traxer, O., Gadzhiev, N., Pirola, G.M., Tanidir, Y., da Silva, R.D., Glover, X., Giusti, G., Proietti, S., Mulawkar, P.M., De Stefano, V., Cormio, A., Teoh, J.Y.-C., Galosi, A.B., Somani, B.K., Emiliani, E., and Gauhar, V.
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- 2024
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4. Covid-19 in Philadelphia-negative myeloproliferative neoplasms: a GIMEMA survey on incidence, clinical management and vaccine
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Breccia, M., Piciocchi, A., Messina, M., Soddu, S., De Stefano, V., Bellini, M., Iurlo, A., Martino, B., Siragusa, S., Albano, F., Mora, B., Fazi, P., Vignetti, M., Guglielmelli, P., and Palandri, F.
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- 2022
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5. Digital morphology compared to the optical microscope: A validation study on reporting bone marrow aspirates
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Zini, G., Chiusolo, Patrizia, Rossi, E., Di Stasio, Enrico, Bellesi, Silvia, Za, T., Viscovo, Marcello, Frioni, Filippo, Ramundo, Francesco, Pelliccioni, Nicoletta, De Stefano, Valerio, Chiusolo P. (ORCID:0000-0002-1355-1587), Di Stasio E. (ORCID:0000-0003-1047-4261), Bellesi S., Viscovo M., Frioni F., Ramundo F., Pelliccioni N., De Stefano V. (ORCID:0000-0002-5178-5827), Zini, G., Chiusolo, Patrizia, Rossi, E., Di Stasio, Enrico, Bellesi, Silvia, Za, T., Viscovo, Marcello, Frioni, Filippo, Ramundo, Francesco, Pelliccioni, Nicoletta, De Stefano, Valerio, Chiusolo P. (ORCID:0000-0002-1355-1587), Di Stasio E. (ORCID:0000-0003-1047-4261), Bellesi S., Viscovo M., Frioni F., Ramundo F., Pelliccioni N., and De Stefano V. (ORCID:0000-0002-5178-5827)
- Abstract
Introduction: This study aims to evaluate the effectiveness and reliability of the utilization for clinical reporting of the evaluation of digital images of bone marrow aspirates by morphologists and their comparability with the classic microscopic morphological evaluation. Methods: We scanned 180 consecutive bone marrow needle aspirates smears using the “Metafer4 VSlide” whole slide imaging (WSI) digital scanning system. We evaluated the statistical comparability and the risk of bias of the microscopic readings with those performed on the screen on the digitized medullary images. Results: The evaluation of cellularity on the screen was equivalent, with a higher frequency of “normal” than the analysis of digital preparations. The means and medians of the percentage values obtained on the different cell populations with the microscopic and digital reading were comparable as the main categories are concerned, with an average difference equal to 0 for the neutrophilic and eosinophilic granulocytic series, at −0.2% for the total myeloid cells, at 1.2% for the erythroid series, at −0.4% for the lymphocytes and at −0.4% for the blasts. Dysplastic features were consistently identified in 69/71 cell lineages. Conclusion: Our study demonstrated that screen evaluation of digitized bone marrow needle aspirates provides quantitative and qualitative results comparable to traditional microscopic analysis of the corresponding slide smears. Digital images offer significant benefits in reducing the workload of experienced operators, reproducibility and sharing of observations, and image preservation. Even in routine diagnostic activities, their use does not alter the quality of the results obtained in evaluating bone marrow needle aspirates.
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- 2024
6. Daratumumab in multiple myeloma: experience of the multiple myeloma GIMEMA Lazio group
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Vozella, Federico, Siniscalchi, A., Rizzo, M., Za, T., Antolino, G., Coppetelli, U., Piciocchi, A., Andriani, A., Annibali, O., De Rosa, L., Cimino, G., La Verde, G., De Stefano, V., Cantonetti, M., di Toritto, T. Caravita, and Petrucci, M. T.
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- 2021
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7. Aquablation: A new benchmark for BPH management?
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Nedbal, C., primary, Castellani, D., additional, De Stefano, V., additional, Giulioni, C., additional, Nicoletti, R., additional, Pirola, G., additional, Teoh, J.Y-C., additional, Eletrman, D., additional, Somani, B.K., additional, and Gauhar, V., additional
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- 2024
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8. A catalogue of photometric redshifts for the SDSS-DR9 galaxies
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Brescia, M., Cavuoti, S., Longo, G., and De Stefano, V.
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Astrophysics - Instrumentation and Methods for Astrophysics ,Astrophysics - Cosmology and Nongalactic Astrophysics - Abstract
Accurate photometric redshifts for large samples of galaxies are among the main products of modern multiband digital surveys. Over the last decade, the Sloan Digital Sky Survey (SDSS) has become a sort of benchmark against which to test the various methods. We present an application of a new method to the estimation of photometric redshifts for the galaxies in the SDSS Data Release 9 (SDSS-DR9). Photometric redshifts for more than 143 million galaxies were produced and made available at the URL: http://dame.dsf.unina.it/catalog/DR9PHOTOZ/. The MLPQNA (Multi Layer Perceptron with Quasi Newton Algorithm) model provided within the framework of the DAMEWARE (DAta Mining and Exploration Web Application REsource) is an interpolative method derived from machine learning models. The obtained redshifts have an overall uncertainty of sigma=0.023 with a very small average bias of about 3x10^-5, and a fraction of catastrophic outliers of about 5%. This result is slightly better than what was already available in the literature, particularly in terms of the smaller fraction of catastrophic outliers., Comment: 10 pages, To appear on section 14 (Catalogs and data) of Astronomy and Astrophysics
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- 2014
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9. Experimental and clinical applications and outcomes of using different forms of suction in retrograde intrarenal surgery. Results from a systematic review
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Giulioni, C., primary, Castellani, D., additional, Traxer, O., additional, Gadzhiev, N., additional, Pirola, G.M., additional, Tanidir, Y., additional, da Silva, R.D., additional, Glover, X., additional, Giusti, G., additional, Proietti, S., additional, Mulawkar, P.M., additional, De Stefano, V., additional, Cormio, A., additional, Teoh, J.Y.-C., additional, Galosi, A.B., additional, Somani, B.K., additional, Emiliani, E., additional, and Gauhar, V., additional
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- 2023
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10. P25 EFFECT OF DARATUMUMAB ON STEM CELL YIELDS IN PATIENTS WITH NEWLY DIAGNOSED MULTIPLE MYELOMA: REPORT FROM THE MULTIPLE MYELOMA LAZIO GROUP
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Fazio, F., primary, Passucci, M., additional, Lisi, C., additional, Micozzi, J., additional, Fianchi, L., additional, Di Landro, F., additional, Za, T., additional, Gumenyuk, S., additional, Ferraro, S., additional, Anaclerico, B., additional, De Padua, L., additional, Annibali, O., additional, Rago, A., additional, Piciocchi, A., additional, Bongarzoni, V., additional, Cupelli, L., additional, Mengarelli, A., additional, De Stefano, V., additional, Martelli, M., additional, and Petrucci, M.T., additional
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- 2023
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11. External validation of the DASH prediction rule: a retrospective cohort study
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Tosetto, A., Testa, S., Martinelli, I., Poli, D., Cosmi, B., Lodigiani, C., Ageno, W., De Stefano, V., Falanga, A., Nichele, I., Paoletti, O., Bucciarelli, P., Antonucci, E., Legnani, C., Banfi, E., Dentali, F., Bartolomei, F., Barcella, L., and Palareti, G.
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- 2017
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12. Thrombosis in myeloproliferative neoplasms during cytoreductive and antithrombotic drug treatment
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Barbui, T., Carobbio, A., De Stefano, V., De Stefano V. (ORCID:0000-0002-5178-5827), Barbui, T., Carobbio, A., De Stefano, V., and De Stefano V. (ORCID:0000-0002-5178-5827)
- Abstract
A state-of-the-art lecture titled “Myeloproliferative Neoplasm-associated Thrombosis” was presented at the ISTH congress in 2021. We summarize here the main points of the lecture with two purposes: to report the incidence rates of major thrombosis in polycythemia vera and essential thrombocythemia and to discuss to what extent cytoreductive therapy and antithrombotic drugs have reduced the incidence of these events. Unfortunately, the incidence rate of thrombosis remains high, ranging between 2 and 5/100 person-years. It is likely that new drugs such as interferon and ruxolitinib can be more efficacious given their cytoreductive and anti-inflammatory activities. Despite prophylaxis with vitamin K antagonists and direct oral anticoagulants after venous thrombosis in either common sites or splanchnic or cerebral sites, the incidence rate is still elevated, as high as 4 to 5/100 person-years. Future studies with new drugs or new strategies should consider thrombosis as the primary endpoint or surrogate biomarkers only if previously validated.
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- 2022
13. A clinical-molecular prognostic model to predict survival in patients with post polycythemia vera and post essential thrombocythemia myelofibrosis
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Passamonti, F, Giorgino, T, Mora, B, Guglielmelli, P, Rumi, E, Maffioli, M, Rambaldi, A, Caramella, M, Komrokji, R, Gotlib, J, Kiladjian, J J, Cervantes, F, Devos, T, Palandri, F, De Stefano, V, Ruggeri, M, Silver, R T, Benevolo, G, Albano, F, Caramazza, D, Merli, M, Pietra, D, Casalone, R, Rotunno, G, Barbui, T, Cazzola, M, and Vannucchi, A M
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- 2017
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14. Serological and Molecular Characterization of Hepatitis C Virus-Related Cryoglobulinemic Vasculitis in Patients without Cryoprecipitate
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Napodano, Cecilia, Ciasca, Gabriele, Chiusolo, Patrizia, Pocino, Krizia, Gragnani, L., Stefanile, A., Gulli, F., Lorini, S., Minnella, Gessica, Fosso, F., Di Santo, R., Romanò, S., Basile, V., De Stefano, Valerio, Rapaccini, Gian Ludovico, Zignego, A. L., Di Stasio, Enrico, Marino, Mariapaola, Basile, Umberto, Napodano C. (ORCID:0000-0002-8720-6284), Ciasca G. (ORCID:0000-0002-3694-8229), Chiusolo P. (ORCID:0000-0002-1355-1587), Pocino K. (ORCID:0000-0003-2456-5308), Minnella G., De Stefano V. (ORCID:0000-0002-5178-5827), Rapaccini G. L. (ORCID:0000-0002-6467-857X), Di Stasio E. (ORCID:0000-0003-1047-4261), Marino M. (ORCID:0000-0001-9155-6378), Basile U., Napodano, Cecilia, Ciasca, Gabriele, Chiusolo, Patrizia, Pocino, Krizia, Gragnani, L., Stefanile, A., Gulli, F., Lorini, S., Minnella, Gessica, Fosso, F., Di Santo, R., Romanò, S., Basile, V., De Stefano, Valerio, Rapaccini, Gian Ludovico, Zignego, A. L., Di Stasio, Enrico, Marino, Mariapaola, Basile, Umberto, Napodano C. (ORCID:0000-0002-8720-6284), Ciasca G. (ORCID:0000-0002-3694-8229), Chiusolo P. (ORCID:0000-0002-1355-1587), Pocino K. (ORCID:0000-0003-2456-5308), Minnella G., De Stefano V. (ORCID:0000-0002-5178-5827), Rapaccini G. L. (ORCID:0000-0002-6467-857X), Di Stasio E. (ORCID:0000-0003-1047-4261), Marino M. (ORCID:0000-0001-9155-6378), and Basile U.
- Abstract
Prolonged B cells stimulation due to the Hepatitis C virus (HCV) can result in autoimmunity, stigmatized by rising levels of cryoglobulins (CGs), the rheumatoid factor (RF), and free light chains (FLC) of immunoglobulins (Ig) associated with a range of symptoms, from their absence to severe cryoglobulinemic vasculitis and lymphoma. Here, we aimed to identify an immunological signature for the earliest stages of vasculitis when cryoprecipitate is still not detectable. We firstly analyzed the IgG subclasses, FLC, and RF in 120 HCV-RNA-positive patients divided into four groups according to the type of cryoprecipitate and symptoms: 30 asymptomatic without cryoprecipitate (No Cryo), 30 with vasculitis symptoms but without CGs that we supposed were circulating but still not detectable (Circulating), 30 type II and 30 type III mixed cryoglobulinemia (Cryo II and Cryo III, respectively). Our results revealed that patients with supposed circulating CGs displayed a pattern of serological parameters that closely resembled Cryo II and Cryo III, with a stronger similarity to Cryo II. Accordingly, we analyzed the groups of Circulating and Cryo II for their immunoglobulin heavy chain (IgH) and T-cell receptor (TCR) gene rearrangements, finding a similar mixed distribution of monoclonal, oligoclonal, and polyclonal responses compared to a control group of ten HCV-RNA-negative patients recovered from infection, who displayed a 100% polyclonal response. Our results strengthened the hypothesis that circulating CGs are the origin of symptoms in HCV-RNA-positive patients without cryoprecipitate and demonstrated that an analysis of clonal IGH and TCR rearrangements is the best option for the early diagnosis of extrahepatic complications.
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- 2023
15. Coagulopathy in Patients with Low/Intermediate Risk Acute Promyelocytic Leukemia treated with First Line Arsenic Trioxide in Combination with All-Trans Retinoic Acid: A Monocentric Experience
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Autore, Francesco, Chiusolo, Patrizia, Sora, F, Laurenti, Luca, Pagano, Livio, Bacigalupo, Andrea, De Stefano, Valerio, Sica, Simona, Autore, F, Chiusolo, P (ORCID:0000-0002-1355-1587), Laurenti, L (ORCID:0000-0002-8327-1396), Pagano, L (ORCID:0000-0001-8287-928X), Bacigalupo, A (ORCID:0000-0002-9119-567X), De Stefano, V (ORCID:0000-0002-5178-5827), Sica, S (ORCID:0000-0003-2426-3465), Autore, Francesco, Chiusolo, Patrizia, Sora, F, Laurenti, Luca, Pagano, Livio, Bacigalupo, Andrea, De Stefano, Valerio, Sica, Simona, Autore, F, Chiusolo, P (ORCID:0000-0002-1355-1587), Laurenti, L (ORCID:0000-0002-8327-1396), Pagano, L (ORCID:0000-0001-8287-928X), Bacigalupo, A (ORCID:0000-0002-9119-567X), De Stefano, V (ORCID:0000-0002-5178-5827), and Sica, S (ORCID:0000-0003-2426-3465)
- Abstract
Patients with acute promyelocytic leukemia (APL) often show some clinical and/or laboratory features of coagulopathy. However, the evidence of alterations in blood clotting tests seems not to correspond to clinically significant thrombotic or hemorrhagic complications in low and intermediate risk APL patients. Presentation of patients with APL is often characterized by coagulopathy.1 At diagnosis, a percentage close to 76% of APL patients have some clinical and/or laboratory features of coagulopathy, from skin or soft tissue bleedings to intracranial hemorrhage.2–3 While physicians pay attention to bleeding-related complications in APL, it is also important to note that it is not uncommon to develop thrombotic events, particularly in patients on treatment.4 Lately, the introduction of new drugs such as all-trans retinoic acid (ATRA) and arsenic trioxide (ATO) allowed for reducing complications: bleeding events were predominant rather than severe thrombotic events (29% vs. 12%).5
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- 2023
16. Differences among young adults, adults and elderly chronic myeloid leukemia patients
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Salvi, F., Pini, M., Leoni, P., Rupoli, S., Galieni, P., Bigazzi, C., Cantore, N., Palmieri, F., Albano, F., Russo Rossi, A., Rambaldi, A., Intermesoli, T., Palandri, F., Testoni, N., Luatti, S., Soverini, S., Iacobucci, I., Bochicchio, M.T., Apolinari, M., Fogli, M., Cervello, I., Capucci, A., Malagola, M., Malpignano, A., Girasoli, M., Angelucci, E., Usala, E., Storti, S., De Biasi, E., Tagariello, G., Sartori, R., Di Raimondo, F., Vigneri, P., Impera, S., Molica, S., Lanza, F., Viganò, C., Grasso, M., Rapezzi, D., Cavazzini, F., Bosi, A., Santini, V., Capalbo, S.F., Spinosa, G., Pierri, I., Bergamaschi, M., Carella, A.M., Bacigalupo, A., De Blasio, A., Ciccone, F., Di Renzo, N., Musolino, C., Russo, S., Cortelezzi, A., Morra, E., Pungolino, E.M., Luppi, M., Marasca, R., Pogliani, E.M., Gambacorti-Passerini, C., Luciano, L., Ferrara, F., Annunziata, M., Latte, G., Noli, D., Rege-Cambrin, G., Fava, C., Semenzato, G., Binotto, G., Fabbiano, F., Turri, D., Siragusa, S., Caracciolo, C., Musso, M., Porretto, F., Aversa, F., Crugnola, M., Cazzola, M., Orlandi, E., Falini, B., Falzetti, F., Visani, G., Isidori, A., Fioritoni, G., Di Lorenzo, R., Vallisa, D., Trabacchi, E., Petrini, M., Galimberti, S., Pizzuti, M., Zaccaria, A., Salvucci, M., Ronco, F., Ielo, D., Merli, F., Avanzini, P., Tosi, P., Merli, A., Musto, P., De Stefano, V., Sica, S., Latagliata, R., De Fabritiis, P., Trawiska, M., Majolino, I., Pacilli, L., Ronci, B., Cedrone, M., Petti, M.C., Pisani, F., Tafuri, A., Montefusco, E., Iuliano, F., Dore, F., Pardini, S., Bocchia, M., Defina, M., Liberati, A.M., Luzzi, D., Boccadoro, M., Ferrero, D., Vitolo, U., Gherlinzoni, F., Calistri, E., Fanin, R., Pizzolo, G., Meneghini, V., Rodighiero, F., D'Emilio, A., Castagnetti, F., Gugliotta, G., Baccarani, M., Breccia, M., Specchia, G., Levato, L., Abruzzese, E., Rossi, G., Iurlo, A., Martino, B., Pregno, P., Stagno, F., Cuneo, A., Bonifacio, M., Gobbi, M., Russo, D., Gozzini, A., Tiribelli, M., de Vivo, A., Alimena, G., Cavo, M., Martinelli, G., Pane, F., Saglio, G., and Rosti, G.
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- 2015
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17. Driver mutations’ effect in secondary myelofibrosis: an international multicenter study based on 781 patients
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Passamonti, F, Mora, B, Giorgino, T, Guglielmelli, P, Cazzola, M, Maffioli, M, Rambaldi, A, Caramella, M, Komrokji, R, Gotlib, J, Kiladjian, J J, Cervantes, F, Devos, T, Palandri, F, De Stefano, V, Ruggeri, M, Silver, R, Benevolo, G, Albano, F, Caramazza, D, Rumi, E, Merli, M, Pietra, D, Casalone, R, Barbui, T, Pieri, L, and Vannucchi, A M
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- 2017
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18. Climate-driven range shift prompts species replacement
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Warren, II, R. J., Chick, L. D., DeMarco, B., McMillan, A., De Stefano, V., Gibson, R., and Pinzone, P.
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- 2016
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19. Impact of JAK2(V617F) mutation status on treatment response to anagrelide in essential thrombocythemia: an observational, hypothesis-generating study
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Cascavilla N, De Stefano V, Pane F, Pancrazzi A, Iurlo A, Gobbi M, Palandri F, Specchia G, Liberati AM, D’Adda M, Gaidano G, Fjerza R, Achenbach H, Smith J, Wilde P, and Vannucchi AM
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Therapeutics. Pharmacology ,RM1-950 - Abstract
Nicola Cascavilla,1 Valerio De Stefano,2 Fabrizio Pane,3 Alessandro Pancrazzi,4 Alessandra Iurlo,5 Marco Gobbi,6 Francesca Palandri,7 Giorgina Specchia,8 A Marina Liberati,9 Mariella D’Adda,10 Gianluca Gaidano,11 Rajmonda Fjerza,4 Heinrich Achenbach,12 Jonathan Smith,13 Paul Wilde,13 Alessandro M Vannucchi41Division of Hematology, Casa Sollievo della Sofferenza Hospital, IRCCS, San Giovanni Rotondo, Italy; 2Institute of Hematology, Catholic University, Rome, Italy; 3Department of Clinical Medicine and Surgery, University of Naples Federico II, Naples, Italy; 4Department of Experimental and Clinical Medicine, University of Florence, Florence, Italy; 5Oncohematology Unit, Fondazione IRCCS Ca’ Granda, Ospedale Maggiore Policlinico, Milan, Italy; 6IRCCS AOU San Martino, Genova, Italy; 7Department of Specialistic, Diagnostic and Experimental Medicine, St Orsola-Malpighi Hospital, University of Bologna, Bologna, Italy; 8Unit of Hematology with Transplantation, Department of Emergency and Organ Transplantation, University of Bari, Bari, Italy; 9Ospedale Santa Maria, Terni, Italy; 10Division of Hematology, Azienda Ospedaliera Spedali Civili di Brescia, Brescia, Italy; 11Division of Hematology, Department of Translational Medicine, Amedeo Avogadro University of Eastern Piedmont, Novara, Italy; 12Research and Development, Shire GmbH, Eysins, Switzerland; 13Shire Pharmaceutical Development Ltd, Basingstoke, United KingdomAbstract: A JAK2(V617F) mutation is found in approximately 55% of patients with essential thrombocythemia (ET), and represents a key World Health Organization diagnostic criterion. This hypothesis-generating study (NCT01352585) explored the impact of JAK2(V617F) mutation status on treatment response to anagrelide in patients with ET who were intolerant/refractory to their current cytoreductive therapy. The primary objective was to compare the proportion of JAK2-positive versus JAK2-negative patients who achieved at least a partial platelet response (≤600×109/L) after anagrelide therapy. Of the 47 patients enrolled, 46 were included in the full analysis set (JAK2-positive, n=22; JAK2-negative, n=24). At 12 months, 35 patients (n=14 and n=21, respectively) had a suitable platelet sample; of these, 74.3% (n=26) achieved at least a partial response. The response rate was higher in JAK2-positive (85.7%, n=12) versus JAK2-negative patients (66.7%, n=14) (odds ratio [OR] 3.00; 95% confidence interval [CI] 0.44, 33.97). By using the last observation carried forward approach in the sensitivity analysis, which considered the imbalance in patients with suitable samples between groups, the overall response rate was 71.7% (n=33/46), with 77.3% (n=17/22) of JAK2-positive and 66.7% (n=16/24) of JAK2-negative patients achieving at least a partial response (OR 1.70; 95% CI 0.39, 8.02). There was no significant change in median allele burden over 12 months in the 12 patients who achieved a response. In conclusion, the overall platelet response rate was high in both JAK2-positive and JAK2-negative patients; however, a larger study would be required to confirm the differences observed according to JAK2(V617F) mutation status.Keywords: essential thrombocythemia, mutation, JAK2, anagrelide, treatment response, allele burden
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- 2015
20. Thrombotic risk in patients with primary immune thrombocytopenia is only mildly increased and explained by personal and treatment‐related risk factors
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Ruggeri, M., Tosetto, A., Palandri, F., Polverelli, N., Mazzucconi, M.G., Santoro, C., Gaidano, G., Lunghi, M., Zaja, F., De Stefano, V., Sartori, R., Fazi, P., and Rodeghiero, F.
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- 2014
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21. Non-overt disseminated intravascular coagulopathy associated with the first obinutuzumab administration in patients with chronic lymphocytic leukemia
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Fresa, A., Autore, F., Innocenti, I., Piciocchi, A., Tomasso, A., Morelli, F., Sora, F., Sica, S., De Stefano, V., Laurenti, L., Fresa A., Autore F., Innocenti I., Tomasso A., Morelli F., Sora F. (ORCID:0000-0002-9607-5298), Sica S. (ORCID:0000-0003-2426-3465), De Stefano V. (ORCID:0000-0002-5178-5827), Laurenti L. (ORCID:0000-0002-8327-1396), Fresa, A., Autore, F., Innocenti, I., Piciocchi, A., Tomasso, A., Morelli, F., Sora, F., Sica, S., De Stefano, V., Laurenti, L., Fresa A., Autore F., Innocenti I., Tomasso A., Morelli F., Sora F. (ORCID:0000-0002-9607-5298), Sica S. (ORCID:0000-0003-2426-3465), De Stefano V. (ORCID:0000-0002-5178-5827), and Laurenti L. (ORCID:0000-0002-8327-1396)
- Abstract
Infusion-related reactions are among the worst complications of obinutuzumab (G) administration and occur predominantly during the first infusion. We reported another adverse event related to the first G infusion, a subclinical coagulopathy. We retrospectively analyzed a cohort of 13 pts with chronic lymphocytic leukemia treated with a frontline G-chlorambucil regimen. Six pts developed non-overt disseminated intravascular coagulopathy (DIC) (46%) after the first administration of G. The coagulopathy was subclinical and self-limited in all pts, not requiring any intervention apart from the suspension of anticoagulant therapy in one pt. We observed a drop in the platelet count, an elevation of D-dimer levels, and an elongation of activated partial thromboplastin time. We found a significant difference in the platelet count between the pts with DIC and those withouts; in fact, all the six pts with non-overt DIC had a platelet count greater than 100 × 109/L, while in the other group only one (p = 0.019). A trend towards a lower lymphocyte count and a higher CD20 expression was found in the pts with DIC. No other correlation between the DIC complication and the clinical or laboratory characteristics of the patients was found. The pathogenesis of the G-related non-overt DIC could be related to the consumption of the platelets after the lysis of lymphocytes, probably triggered by the damage associated molecular patterns. Despite its limitations, this study describes a new adverse event and identifies a specific subgroup of patients whose clinical management at the time of the infusion of G may need to be refined.
- Published
- 2021
22. High rate of recurrent venous thromboembolism in patients with myeloproliferative neoplasms and effect of prophylaxis with vitamin K antagonists
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De Stefano, V, Ruggeri, M, Cervantes, F, Alvarez-Larrán, A, Iurlo, A, Randi, M L, Elli, E, Finazzi, M C, Finazzi, G, Zetterberg, E, Vianelli, N, Gaidano, G, Rossi, E, Betti, S, Nichele, I, Cattaneo, D, Palova, M, Ellis, M H, Cacciola, R, Tieghi, A, Hernandez-Boluda, J C, Pungolino, E, Specchia, G, Rapezzi, D, Forcina, A, Musolino, C, Carobbio, A, Griesshammer, M, Sant’Antonio, E, Vannucchi, A M, and Barbui, T
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- 2016
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23. P958: REAL-LIFE CURRENT STANDARD OF CARE IN PATIENTS WITH RELAPSED/REFRACTORY MULTIPLE MYELOMA: SUBGROUP ANALYSES FROM THE LOCOMMOTION STUDY
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Einsele, H., primary, Moreau, P., additional, De Stefano, V., additional, Dytfeld, D., additional, Angelucci, E., additional, Benjamin, R., additional, Goldschmidt, H., additional, van de Donk, N. W., additional, Besemer, B., additional, Scheid, C., additional, Vij, R., additional, ’. Groen-Damen, E. I., additional, Semerjian, M., additional, Strulev, V., additional, Schecter, J. M., additional, Roccia, T., additional, Nesheiwat, T., additional, Wapenaar, R., additional, Weisel, K., additional, and Mateos, M.-V., additional
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- 2022
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24. P995: MYELOID NEOPLASMS-ASSOCIATED GENE VARIANTS IN 639 PATIENTS WITH POST-POLYCYTHEMIA VERA AND POST-ESSENTIAL THROMBOCYTHEMIA MYELOFIBROSIS: AN ANALYSIS OF THE MYSEC COHORT
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Mora, B., primary, Guglielmelli, P., additional, Kuykendall, A., additional, Maffioli, M., additional, Rotunno, G., additional, Komrokji, R. S., additional, Palandri, F., additional, Kiladjian, J.-J., additional, Iurlo, A., additional, Auteri, G., additional, Cattaneo, D., additional, De Stefano, V., additional, Salmoiraghi, S., additional, Devos, T., additional, Cervantes, F., additional, Merli, M., additional, Campagna, A., additional, Benevolo, G., additional, Brociner, M., additional, Albano, F., additional, Gotlib, J., additional, Caramella, M., additional, Ruggeri, M., additional, Ross, D. M., additional, Orsini, F., additional, Pessina, C., additional, Colugnat, I., additional, Pallotti, F., additional, Barbui, T., additional, Bertù, L., additional, Della Porta, M. G., additional, Vannucchi, A. M., additional, and Passamonti, F., additional
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- 2022
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25. P902: RELAPSED/REFRACTORY MULTIPLE MYELOMA PATIENTS. A MULTICENTER RETROSPECTIVE ANALYSIS OF ELIGIBILITY CRITERIA FOR CAR-T CELL THERAPY
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Fazio, F., primary, Di Rocco, A., additional, Giaimo, M. T., additional, Za, T., additional, Ciccone, N., additional, Sessa, M., additional, Gamberi, B., additional, Tomarchio, V., additional, De Padua, L., additional, Bongarzoni, V., additional, Mariani, S., additional, Rago, A., additional, Piciocchi, A., additional, Merli, F., additional, Cuneo, A., additional, De Stefano, V., additional, Foà, R., additional, Martelli, M., additional, and Petrucci, M. T., additional
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- 2022
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26. P1009: PREDICTORS OF HOSPITALIZATION AND SEVERE OUTCOMES IN PATIENTS WITH MPN AND COVID-19
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Barbui, T., primary, Carobbio, A., additional, Masciulli, A., additional, Iurlo, A., additional, Sobas, M. A., additional, Elli, E. M., additional, Rumi, E., additional, De Stefano, V., additional, Lunghi, F., additional, Marchetti, M., additional, Daffini, R., additional, Gasior Kabat, M., additional, Cuevas, B., additional, Fox, M. L., additional, Andrade Campos, M. M., additional, Palandri, F., additional, Guglielmelli, P., additional, Benevolo, G., additional, Harrison, C., additional, Foncillas, M. A., additional, Bonifacio, M., additional, Alvarez-Larran, A., additional, Kiladjian, J.-J., additional, Bolanos Calderon, E., additional, Patriarca, A., additional, Quiroz Cervantes, K. S., additional, Griesshammer, M., additional, Garcia-Gutierrez, V., additional, Marin Sanchez, A., additional, Magro Mazo, E., additional, Ruggeri, M., additional, Hernandez-Boluda, J. C., additional, Osorio, S., additional, Carreno-Tarragona, G., additional, Sagues Serrano, M., additional, Kusec, R., additional, Navas Elorza, B., additional, Angona, A., additional, Xicoy Cirici, B., additional, Lopez Abadia, E., additional, Koschmieder, S., additional, Cichocka, E., additional, Kulikowska de Nałęcz, A., additional, Bellini, M., additional, Cattaneo, D., additional, Bucelli, C., additional, Cavalca, F., additional, Borsani, O., additional, Betti, S., additional, Curto-Garcia, N., additional, Carbonell, S., additional, Benajiba, L., additional, Rambaldi, A., additional, and Vannucchi, A. M., additional
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- 2022
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27. P960: HEALTH-RELATED QUALITY OF LIFE IN THE LOCOMMOTION STUDY OF REAL-LIFE CURRENT STANDARD OF CARE IN PATIENTS WITH RELAPSED/REFRACTORY MULTIPLE MYELOMA
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Delforge, M., primary, Moreau, P., additional, Einsele, H., additional, De Stefano, V., additional, Lindsey-Hill, J., additional, Vincent, L., additional, Mangiacavalli, S., additional, Perrot, A., additional, Ocio, E., additional, ten Seldam, S., additional, ’. Groen-Damen, E. I., additional, Semerjian, M., additional, Strulev, V., additional, Schecter, J. M., additional, Roccia, T., additional, Gries, K. S., additional, Nesheiwat, T., additional, Wapenaar, R., additional, Mateos, M.-V., additional, and Weisel, K., additional
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- 2022
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28. S197: NAVITOCLAX PLUS RUXOLITINIB IN JAK INHIBITOR-NAÏVE PATIENTS WITH MYELOFIBROSIS: PRELIMINARY SAFETY AND EFFICACY IN A MULTICENTER, OPEN-LABEL PHASE 2 STUDY
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Passamonti, F., primary, Foran, J., additional, Tandra, A., additional, De Stefano, V., additional, Laura Fox, M., additional, Mattour, A., additional, McMullin, M. F., additional, Perkins, A. C., additional, Rodriguez-Macías, G., additional, Sibai, H., additional, Qin, Q., additional, Potluri, J., additional, and How, J., additional
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- 2022
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29. P1011: PREDICTORS OF COVID-19 DISEASE AND SURVIVAL TO COVID-19 IN MPN PATIENTS TREATED WITH RUXOLITINIB
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Palandri, F., primary, Bartoletti, D., additional, Elli, E. M., additional, Auteri, G., additional, Bonifacio, M., additional, Benevolo, G., additional, Heidel, F., additional, Trawinska, M. M., additional, Rossi, E., additional, Bosi, C., additional, Tieghi, A., additional, Tiribelli, M., additional, Iurlo, A., additional, Polverelli, N., additional, Caocci, G., additional, Binotto, G., additional, Cavazzini, F., additional, Beggiato, E., additional, Cilloni, D., additional, Tatarelli, C., additional, Mendicino, F., additional, Miglino, M., additional, Bocchia, M., additional, Crugnola, M., additional, Mazzoni, C., additional, Romagnoli, A. D., additional, Rindone, G., additional, Ceglie, S., additional, D’Addio, A., additional, Santoni, E., additional, Cattaneo, D., additional, Lemoli, R. M., additional, Krampera, M., additional, Cuneo, A., additional, Semenzato, G., additional, Latagliata, R., additional, Abruzzese, E., additional, Vianelli, N., additional, Cavo, M., additional, Andriani, A., additional, De Stefano, V., additional, Palumbo, G., additional, and Breccia, M., additional
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- 2022
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30. PB1984: ELOTUZUMAB PLUS LENALIDOMIDE AND DEXAMETHASONE IN RELAPSED/REFRACTORY MULTIPLE MYELOMA: EXTENDED 3-YEAR FOLLOW-UP OF AN ITALIAN, MULTICENTER, EXPERIENCE OUTSIDE OF CONTROLLED CLINICAL TRIALS
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Bruzzese, A., primary, Derudas, D., additional, Galli, M., additional, Martino, E. A., additional, Rocco, S., additional, Conticello, C., additional, Califano, C., additional, Giuliani, N., additional, Mangicavalli, S., additional, Farina, G., additional, Lombardo, A., additional, Brunori, M., additional, Rossi, E., additional, Antonioli, E., additional, Ria, R., additional, Zambello, R., additional, Di Renzo, N., additional, Mele, G., additional, Marcacci, G., additional, Pietrantuono, G., additional, Palumbo, G., additional, Cascavilla, N., additional, Cerchione, C., additional, Belotti, A., additional, Criscuolo, C., additional, Uccello, G., additional, Curci, P., additional, Vigna, E., additional, Mendicino, F., additional, Iaccino, E., additional, Mimmi, S., additional, Botta, C., additional, Vincelli, D., additional, Sgherza, N., additional, Bonalumi, A., additional, Cupelli, L., additional, Stocchi, R., additional, Martino, M., additional, Ballanti, S., additional, Gangemi, D., additional, Gagliardi, A., additional, Gamberi, B., additional, Pompa, A., additional, Tripepi, G., additional, Frigeri, F., additional, Consoli, U., additional, Bringhen, S., additional, Zamagni, E., additional, Patriarca, F., additional, De Stefano, V., additional, Di Raimondo, F., additional, Palmieri, S., additional, Petrucci, M. T., additional, Offidani, M., additional, Musto, P., additional, Boccadoro, M., additional, Cavo, M., additional, Neri, A., additional, Morabito, F., additional, and Gentile, M., additional
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- 2022
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31. Sex-related characteristics of cerebral vein thrombosis: A secondary analysis of a multicenter international cohort study
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Porceddu, E, Rezoagli, E, Poli, D, Magliocca, A, Scoditti, U, Di Minno, M, De Stefano, V, Siragusa, S, Ageno, W, Dentali, F, Porceddu E., Rezoagli E., Poli D., Magliocca A., Scoditti U., Di Minno M. N. D., De Stefano V., Siragusa S., Ageno W., Dentali F., Porceddu, E, Rezoagli, E, Poli, D, Magliocca, A, Scoditti, U, Di Minno, M, De Stefano, V, Siragusa, S, Ageno, W, Dentali, F, Porceddu E., Rezoagli E., Poli D., Magliocca A., Scoditti U., Di Minno M. N. D., De Stefano V., Siragusa S., Ageno W., and Dentali F.
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- 2020
32. Pre-Exposure to Defibrotide Prevents Endothelial Cell Activation by Lipopolysaccharide: An Ingenuity Pathway Analysis
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Orlando, N., Babini, G., Chiusolo, P., Valentini, C. G., De Stefano, V., Teofili, L., Orlando N., Chiusolo P. (ORCID:0000-0002-1355-1587), De Stefano V. (ORCID:0000-0002-5178-5827), Teofili L. (ORCID:0000-0002-7214-1561), Orlando, N., Babini, G., Chiusolo, P., Valentini, C. G., De Stefano, V., Teofili, L., Orlando N., Chiusolo P. (ORCID:0000-0002-1355-1587), De Stefano V. (ORCID:0000-0002-5178-5827), and Teofili L. (ORCID:0000-0002-7214-1561)
- Abstract
Defibrotide (DFB) effects on different endothelial cell pathways have been investigated focusing on a limited number of genes or molecules. This study explored the modulation of the gene expression profile of steady-state or lipopolysaccharide (LPS)-activated endothelial cells, following the DFB exposure. Starting from differentially regulated gene expression datasets, we utilized the Ingenuity Pathway Analysis (IPA) to infer novel information about the activity of this drug. We found that effects elicited by LPS deeply differ depending on cells were exposed to DFB and LPS at the same time, or if the DFB priming occurs before the LPS exposure. Only in the second case, we observed a significant down-regulation of various pathways activated by LPS. In IPA, the pathways most affected by DFB were leukocyte migration and activation, vasculogenesis, and inflammatory response. Furthermore, the activity of DFB seemed to be associated with the modulation of six key genes, including matrix-metalloproteinases 2 and 9, thrombin receptor, sphingosine-kinase1, alpha subunit of collagen XVIII, and endothelial-protein C receptor. Overall, our findings support a role for DFB in a wide range of diseases associated with an exaggerated inflammatory response of endothelial cells.
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- 2020
33. Arterial thrombosis in Philadelphia-negative myeloproliferative neoplasms predicts second cancer: A case-control study
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De Stefano, V., Ghirardi, A., Masciulli, A., Carobbio, A., Palandri, F., Vianelli, N., Rossi, E., Betti, S., Di Veroli, A., Iurlo, A., Cattaneo, D., Finazzi, G., Bonifacio, M., Scaffidi, L., Patriarca, A., Rumi, E., Casetti, I. C., Stephenson, C., Guglielmelli, P., Elli, E. M., Palova, M., Rapezzi, D., Erez, D., Gomez, M., Wille, K., Perez-Encinas, M., Lunghi, F., Angona, A., Fox, M. L., Beggiato, E., Benevolo, G., Carli, G., Cacciola, R., McMullin, M. F., Tieghi, A., Recasens, V., Isfort, S., Marchetti, M., Griesshammer, M., Alvarez-Larran, A., Vannucchi, A. M., Rambaldi, A., Barbui, T., De Stefano V. (ORCID:0000-0002-5178-5827), Rossi E. (ORCID:0000-0002-7572-9379), De Stefano, V., Ghirardi, A., Masciulli, A., Carobbio, A., Palandri, F., Vianelli, N., Rossi, E., Betti, S., Di Veroli, A., Iurlo, A., Cattaneo, D., Finazzi, G., Bonifacio, M., Scaffidi, L., Patriarca, A., Rumi, E., Casetti, I. C., Stephenson, C., Guglielmelli, P., Elli, E. M., Palova, M., Rapezzi, D., Erez, D., Gomez, M., Wille, K., Perez-Encinas, M., Lunghi, F., Angona, A., Fox, M. L., Beggiato, E., Benevolo, G., Carli, G., Cacciola, R., McMullin, M. F., Tieghi, A., Recasens, V., Isfort, S., Marchetti, M., Griesshammer, M., Alvarez-Larran, A., Vannucchi, A. M., Rambaldi, A., Barbui, T., De Stefano V. (ORCID:0000-0002-5178-5827), and Rossi E. (ORCID:0000-0002-7572-9379)
- Abstract
Patients with Philadelphia-negative myeloproliferative neoplasm (MPN) are prone to the development of second cancers, but the factors associated with these events have been poorly explored. In an international nested case-control study, we recruited 647 patients with carcinoma, nonmelanoma skin cancer, hematological second cancer, and melanoma diagnosed concurrently or after MPN diagnosis. Up to 3 control patients without a history of cancer and matched with each case for center, sex, age at MPN diagnosis, date of diagnosis, and MPN disease duration were included (n 5 1234). Cases were comparable to controls for MPN type, driver mutations and cardiovascular risk factors. The frequency of thrombosis preceding MPN was similar for cases and controls (P 5 .462). Thrombotic events after MPN and before second cancer were higher in cases than in controls (11.6% vs 8.1%; P 5 .013), because of a higher proportion of arterial thromboses (6.2% vs 3.7%; P 5 .015). After adjustment for confounders, the occurrence of arterial thrombosis remained independently associated with the risk of carcinoma (odds ratio, 1.97; 95% confidence interval, 1.14-3.41), suggesting that MPN patients experiencing arterial events after MPN diagnosis deserve careful clinical surveillance for early detection of carcinoma.
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- 2020
34. Management of elderly patients with immune thrombocytopenia: Real-world evidence from 451 patients older than 60 years
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Palandri, F., Santoro, C., Carpenedo, M., Cantoni, S., Barcellini, W., Carli, G., Carrai, V., Rossi, E., Rivolti, E., Lucchesi, A., Rotondo, F., Baldacci, E., Auteri, G., Sutto, E., Di Pietro, C., Catani, L., Bartoletti, D., De Stefano, V., Ruggeri, M., Mazzucconi, M. G., Cavo, M., Rodeghiero, F., Vianelli, N., Rossi E. (ORCID:0000-0002-7572-9379), De Stefano V. (ORCID:0000-0002-5178-5827), Palandri, F., Santoro, C., Carpenedo, M., Cantoni, S., Barcellini, W., Carli, G., Carrai, V., Rossi, E., Rivolti, E., Lucchesi, A., Rotondo, F., Baldacci, E., Auteri, G., Sutto, E., Di Pietro, C., Catani, L., Bartoletti, D., De Stefano, V., Ruggeri, M., Mazzucconi, M. G., Cavo, M., Rodeghiero, F., Vianelli, N., Rossi E. (ORCID:0000-0002-7572-9379), and De Stefano V. (ORCID:0000-0002-5178-5827)
- Abstract
Introduction: Primary Immune thrombocytopenia (ITP) in the elderly is a major clinical challenge which is increasingly frequent due to global ageing population. Materials and methods: To describe baseline ITP features, management, and outcome, a centralized electronic database was established, including data of 451 patients aged ≥60 years that were treated from 2000 onwards and were observed for ≥1 year (total observation of 2704 patient-years). Results: At ITP diagnosis, median age was 71.1 years (age ≥ 75: 42.8%); 237 (53.9%) patients presented with haemorrhages (grade ≥ 3: 7.5%). First-line therapy included prednisone (82.9%), dexamethasone (14.6%), thrombopoietin-receptor agonists (TRAs, 1.3%), and oral immunosuppressive agents (1.1%). Prednisone starting dose ≥1 mg/kg/d (p = .01) and dexamethasone 40 mg/d (p < .001) were mainly reserved to patients aged 60–74, who were more treated with rituximab (RTX, p = .02) and splenectomy (p = .03) second-line. Overall response rates to first and second-line therapies were 83.8% and 84.5%, respectively, regardless of age and treatment type/dose. A total of 178 haemorrhages in 101 patients (grade ≥ 3: n. 52, 29.2%; intracranial in 6 patients), 49 thromboses in 43 patients (grade ≥ 3: n. 26, 53.1%) and 115 infections in 94 patients (grade ≥ 3: n. 23, 20%) were observed during follow-up. Incidence rates of complications per 100 patient-years were: 4.5 (haemorrhages, grade ≥ 3: 1.7), 1.7 (thromboses, grade ≥ 3: 0.9), and 3.9 (infections, grade ≥ 3: 0.7). TRAs use were associated with reduced risk of bleeding and infections, while cardiovascular risk factors (particularly, diabetes) significantly predicted thromboses and infections. Conclusions: Age-adapted treatment strategies are required in elderly and very elderly patients.
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- 2020
35. Algorithmic discrimination, the role of GPS and the limited scope of EU non-discrimination law
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De Stefano, V., Durri, I., Kullmann, M., Gramano, E., De Stefano, V., Durri, I., Kullmann, M., and Gramano, E.
- Abstract
Item does not contain fulltext
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- 2022
36. A common pattern of somatic mutations in t-MDS/AML of patients treated with PARP inhibitors for metastatic ovarian cancer
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Chiusolo, Patrizia, Marchetti, Claudia, Rossi, M., Minnella, Gessica, Salutari, Vanda, Distefano, M., Giammarco, S., Metafuni, Elisabetta, Minucci, Angelo, Frioni, Filippo, Gasbarrino, C., Colangelo, M., Orteschi, D., Fagotti, Anna, Lorusso, D., Pagano, Livio, De Stefano, Valerio, Scambia, Giovanni, Sica, S., Chiusolo P. (ORCID:0000-0002-1355-1587), Marchetti C. (ORCID:0000-0001-7098-8956), Minnella G., Salutari V., Metafuni E., Minucci A., Frioni F., Fagotti A. (ORCID:0000-0001-5579-335X), Pagano L. (ORCID:0000-0001-8287-928X), De Stefano V. (ORCID:0000-0002-5178-5827), Scambia G. (ORCID:0000-0003-2758-1063), Chiusolo, Patrizia, Marchetti, Claudia, Rossi, M., Minnella, Gessica, Salutari, Vanda, Distefano, M., Giammarco, S., Metafuni, Elisabetta, Minucci, Angelo, Frioni, Filippo, Gasbarrino, C., Colangelo, M., Orteschi, D., Fagotti, Anna, Lorusso, D., Pagano, Livio, De Stefano, Valerio, Scambia, Giovanni, Sica, S., Chiusolo P. (ORCID:0000-0002-1355-1587), Marchetti C. (ORCID:0000-0001-7098-8956), Minnella G., Salutari V., Metafuni E., Minucci A., Frioni F., Fagotti A. (ORCID:0000-0001-5579-335X), Pagano L. (ORCID:0000-0001-8287-928X), De Stefano V. (ORCID:0000-0002-5178-5827), and Scambia G. (ORCID:0000-0003-2758-1063)
- Abstract
NA
- Published
- 2022
37. Endothelial activation predicts disseminated intravascular coagulopathy, cytokine release syndrome and prognosis in patients treated with anti-CD19 CAR-T
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Galli, Eugenio, Sorà, F, Hohaus, Stefan, Fresa, Alberto, Pansini, Ilaria, Autore, Francesco, Metafuni, Elisabetta, Innocenti, Idanna, Limongiello, Ma, Giammarco, S, Laurenti, Luca, Bacigalupo, Andrea, Chiusolo, Patrizia, De Stefano, Valerio, Sica, Simona, Galli E, Hohaus S (ORCID:0000-0002-5534-7197), Fresa A, Pansini I, Autore F, Metafuni E, Innocenti I, Laurenti L (ORCID:0000-0002-8327-1396), Bacigalupo A (ORCID:0000-0002-9119-567X), Chiusolo P (ORCID:0000-0002-1355-1587), De Stefano V (ORCID:0000-0002-5178-5827), Sica S. (ORCID:0000-0003-2426-3465), Galli, Eugenio, Sorà, F, Hohaus, Stefan, Fresa, Alberto, Pansini, Ilaria, Autore, Francesco, Metafuni, Elisabetta, Innocenti, Idanna, Limongiello, Ma, Giammarco, S, Laurenti, Luca, Bacigalupo, Andrea, Chiusolo, Patrizia, De Stefano, Valerio, Sica, Simona, Galli E, Hohaus S (ORCID:0000-0002-5534-7197), Fresa A, Pansini I, Autore F, Metafuni E, Innocenti I, Laurenti L (ORCID:0000-0002-8327-1396), Bacigalupo A (ORCID:0000-0002-9119-567X), Chiusolo P (ORCID:0000-0002-1355-1587), De Stefano V (ORCID:0000-0002-5178-5827), and Sica S. (ORCID:0000-0003-2426-3465)
- Abstract
Cytokine release syndrome (CRS) and consumptive coagulopathy can complicate the treatment with chimeric antigen receptor T (CAR-T) cells. The modified version of the Endothelial Activation and Stress Index (mEASIX), a score derived from haematopoietic stem cell transplantation, combines platelets, C-reactive protein (CRP), and lactate dehydrogenase (LDH) and has been correlated with CRS and endothelial biomarkers. In 38 consecutive patients with aggressive lymphoproliferative disease we measured a coagulative laboratory panel at baseline and early after infusion of anti-CD19 CAR-T. The panel was investigated also in the presence of CRS graded 2 or higher, or immune effector cell-associated neurotoxicity syndrome (ICANS). Moreover, we examined the relationship between mEASIX, coagulation biomarkers, and toxicities of CAR-T cells. During CRS grade 2 or higher, we found increased prothrombin time (PT) and activated partial thromboplastin time (aPTT), fibrinogen, D-dimer, factor VIII (FVIII), and von Willebrand factor (vWF) antigen levels, and decreased platelet count and antithrombin levels. The occurrence of immune effector cell-associated neurotoxicity syndrome was associated with higher PT values, D-dimer, FVIII, and vWF levels, and decreased fibrinogen levels and platelet count. A higher mEASIX score correlated with increased aPTT values, fibrinogen, D-dimer, FVIII and vWF levels, and decreased antithrombin levels. Baseline mEASIX was predictive for consumptive coagulopathy and CRS graded 2 or higher, and for progression-free survival and overall survival.
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- 2022
38. PD-L1 expression in peripheral blood granulocytes at diagnosis as prognostic factor in classical Hodgkin lymphoma
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Cuccaro, Annarosa, Bellesi, Silvia, Galli, Eugenio, Zangrilli, I., Corrente, Francesco, Cupelli, Elisa, Fatone, Federica, Maiolo, E., Alma, Eleonora, Viscovo, Marcello, D'Alo, F., Annunziata, Salvatore, Martini, M., Rufini, Vittoria, Giordano, Alessandro, De Stefano, Valerio, Larocca, Luigi Maria, Hohaus, Stefan, Cuccaro A., Bellesi S., Galli E., Corrente F., Cupelli E., Fatone F., Alma E., Viscovo M., Annunziata S. (ORCID:0000-0003-3241-1501), Rufini V. (ORCID:0000-0002-2052-8078), Giordano A. (ORCID:0000-0002-6978-0880), De Stefano V. (ORCID:0000-0002-5178-5827), Larocca L. M. (ORCID:0000-0003-1739-4758), Hohaus S. (ORCID:0000-0002-5534-7197), Cuccaro, Annarosa, Bellesi, Silvia, Galli, Eugenio, Zangrilli, I., Corrente, Francesco, Cupelli, Elisa, Fatone, Federica, Maiolo, E., Alma, Eleonora, Viscovo, Marcello, D'Alo, F., Annunziata, Salvatore, Martini, M., Rufini, Vittoria, Giordano, Alessandro, De Stefano, Valerio, Larocca, Luigi Maria, Hohaus, Stefan, Cuccaro A., Bellesi S., Galli E., Corrente F., Cupelli E., Fatone F., Alma E., Viscovo M., Annunziata S. (ORCID:0000-0003-3241-1501), Rufini V. (ORCID:0000-0002-2052-8078), Giordano A. (ORCID:0000-0002-6978-0880), De Stefano V. (ORCID:0000-0002-5178-5827), Larocca L. M. (ORCID:0000-0003-1739-4758), and Hohaus S. (ORCID:0000-0002-5534-7197)
- Abstract
Hodgkin lymphoma (HL) is a neoplastic disease in which the inflammatory microenvironment plays a pivotal role in the tumorigenesis. Neutrophilia is a typical finding in HL at diagnosis and, in particular, in association with lymphocytopenia, is a negative prognostic factor. As the immune checkpoint Programmed Death (PD)-L1/PD-1 has become an important therapeutic target, we were interested in the expression of PD-L1 in peripheral blood (PB) leukocytes using flow cytometry and RT-PCR in patients with HL and healthy controls. Granulocytes were the major PB cell fraction expressing PD-L1. PD-L1 expression on granulocytes was higher in patients with HL than in controls and correlated with lower T-cell numbers in PB. We analyzed for associations between PD-L1 expression in PB granulocytes at the time of diagnosis with patient characteristics and outcome in 126 patients with HL treated with standard chemotherapy adriamycin, bleomycin, vinblastine, and dacarbazine. Increased PD-L1 expression in PB associated with advanced disease, systemic symptoms, positive interim positron emission tomography, and inferior progression-free survival (PFS). PFS at 4 years was 81% (95% C.I., 71–87%) in patients with normal PD-L1 expression and 56% (95% C.I., 35–72%) in patients with higher-than-normal PD-L1 expression (p = 0.002). In conclusion, PD-L1 expression in PB could become a potentially actionable prognostic factor in HL.
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- 2022
39. Anti CD20-based immunochemotherapy abolishes antibody response to Covid-19 mRNA vaccine in lymphoma patients vaccinated during active first line treatment
- Author
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Bellesi, Silvia, Sali, Michela, Maiolo, Maria Elisa, Pereyra Boza, Maria Del Carmen, Alma, Eleonora, Palucci, Ivana, Fatone, Federica, De Maio, Flavio, Viscovo, Marcello, D'Alo, F., De Stefano, Valerio, Hohaus, Stefan, Sanguinetti, Maurizio, Bellesi S., Sali M. (ORCID:0000-0003-3609-2990), Maiolo E., Pereyra Boza M. D. C., Alma E., Palucci I., Fatone F., De Maio F., Viscovo M., De Stefano V. (ORCID:0000-0002-5178-5827), Hohaus S. (ORCID:0000-0002-5534-7197), Sanguinetti M. (ORCID:0000-0002-9780-7059), Bellesi, Silvia, Sali, Michela, Maiolo, Maria Elisa, Pereyra Boza, Maria Del Carmen, Alma, Eleonora, Palucci, Ivana, Fatone, Federica, De Maio, Flavio, Viscovo, Marcello, D'Alo, F., De Stefano, Valerio, Hohaus, Stefan, Sanguinetti, Maurizio, Bellesi S., Sali M. (ORCID:0000-0003-3609-2990), Maiolo E., Pereyra Boza M. D. C., Alma E., Palucci I., Fatone F., De Maio F., Viscovo M., De Stefano V. (ORCID:0000-0002-5178-5827), Hohaus S. (ORCID:0000-0002-5534-7197), and Sanguinetti M. (ORCID:0000-0002-9780-7059)
- Abstract
N/A
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- 2022
40. A real-time integrated framework to support clinical decision making for covid-19 patients
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Murri, Rita, Masciocchi, Carlotta, Lenkowicz, Jacopo, Fantoni, Massimo, Damiani, Andrea, Marchetti, A., Sergi, P. D. A., Arcuri, Giovanni, Cesario, Alfredo, Patarnello, S., Antonelli, Massimo, Bellantone, Rocco Domenico Alfonso, Bernabei, Roberto, Boccia, Stefania, Calabresi, Paolo, Cambieri, Andrea, Cauda, Roberto, Colosimo, Cesare, Crea, Filippo, De Maria Marchiano, Ruggero, De Stefano, Valerio, Franceschi, Francesco, Gasbarrini, Antonio, Landolfi, Raffaele, Parolini, Ornella, Richeldi, Luca, Sanguinetti, Maurizio, Urbani, Andrea, Zega, Maurizio, Scambia, Giovanni, Valentini, Vincenzo, Murri R. (ORCID:0000-0003-4263-7854), Masciocchi C., Lenkowicz J., Fantoni M. (ORCID:0000-0001-6913-8460), Damiani A., Arcuri G., Cesario A. (ORCID:0000-0003-4687-0709), Antonelli M. (ORCID:0000-0003-3007-1670), Bellantone R. (ORCID:0000-0002-0844-3469), Bernabei R. (ORCID:0000-0002-9197-004X), Boccia S. (ORCID:0000-0002-1864-749X), Calabresi P. (ORCID:0000-0003-0326-5509), Cambieri A., Cauda R. (ORCID:0000-0002-1498-4229), Colosimo C. (ORCID:0000-0003-3800-3648), Crea F. (ORCID:0000-0001-9404-8846), De Maria R. (ORCID:0000-0003-2255-0583), De Stefano V. (ORCID:0000-0002-5178-5827), Franceschi F. (ORCID:0000-0001-6266-445X), Gasbarrini A. (ORCID:0000-0002-7278-4823), Landolfi R. (ORCID:0000-0002-7913-8576), Parolini O. (ORCID:0000-0002-5211-6430), Richeldi L. (ORCID:0000-0001-8594-1448), Sanguinetti M. (ORCID:0000-0002-9780-7059), Urbani A. (ORCID:0000-0001-9168-3174), Zega M. (ORCID:0000-0002-7821-2615), Scambia G. (ORCID:0000-0003-2758-1063), Valentini V. (ORCID:0000-0003-4637-6487), Murri, Rita, Masciocchi, Carlotta, Lenkowicz, Jacopo, Fantoni, Massimo, Damiani, Andrea, Marchetti, A., Sergi, P. D. A., Arcuri, Giovanni, Cesario, Alfredo, Patarnello, S., Antonelli, Massimo, Bellantone, Rocco Domenico Alfonso, Bernabei, Roberto, Boccia, Stefania, Calabresi, Paolo, Cambieri, Andrea, Cauda, Roberto, Colosimo, Cesare, Crea, Filippo, De Maria Marchiano, Ruggero, De Stefano, Valerio, Franceschi, Francesco, Gasbarrini, Antonio, Landolfi, Raffaele, Parolini, Ornella, Richeldi, Luca, Sanguinetti, Maurizio, Urbani, Andrea, Zega, Maurizio, Scambia, Giovanni, Valentini, Vincenzo, Murri R. (ORCID:0000-0003-4263-7854), Masciocchi C., Lenkowicz J., Fantoni M. (ORCID:0000-0001-6913-8460), Damiani A., Arcuri G., Cesario A. (ORCID:0000-0003-4687-0709), Antonelli M. (ORCID:0000-0003-3007-1670), Bellantone R. (ORCID:0000-0002-0844-3469), Bernabei R. (ORCID:0000-0002-9197-004X), Boccia S. (ORCID:0000-0002-1864-749X), Calabresi P. (ORCID:0000-0003-0326-5509), Cambieri A., Cauda R. (ORCID:0000-0002-1498-4229), Colosimo C. (ORCID:0000-0003-3800-3648), Crea F. (ORCID:0000-0001-9404-8846), De Maria R. (ORCID:0000-0003-2255-0583), De Stefano V. (ORCID:0000-0002-5178-5827), Franceschi F. (ORCID:0000-0001-6266-445X), Gasbarrini A. (ORCID:0000-0002-7278-4823), Landolfi R. (ORCID:0000-0002-7913-8576), Parolini O. (ORCID:0000-0002-5211-6430), Richeldi L. (ORCID:0000-0001-8594-1448), Sanguinetti M. (ORCID:0000-0002-9780-7059), Urbani A. (ORCID:0000-0001-9168-3174), Zega M. (ORCID:0000-0002-7821-2615), Scambia G. (ORCID:0000-0003-2758-1063), and Valentini V. (ORCID:0000-0003-4637-6487)
- Abstract
Background: The COVID-19 pandemic affected healthcare systems worldwide. Predictive models developed by Artificial Intelligence (AI) and based on timely, centralized and standardized real world patient data could improve management of COVID-19 to achieve better clinical outcomes. The objectives of this manuscript are to describe the structure and technologies used to construct a COVID-19 Data Mart architecture and to present how a large hospital has tackled the challenge of supporting daily management of COVID-19 pandemic emergency, by creating a strong retrospective knowledge base, a real time environment and integrated information dashboard for daily practice and early identification of critical condition at patient level. This framework is also used as an informative, continuously enriched data lake, which is a base for several on-going predictive studies. Methods: The information technology framework for clinical practice and research was described. It was developed using SAS Institute software analytics tool and SAS® Vyia® environment and Open-Source environment R ® and Python ® for fast prototyping and modeling. The included variables and the source extraction procedures were presented. Results: The Data Mart covers a retrospective cohort of 5528 patients with SARS-CoV-2 infection. People who died were older, had more comorbidities, reported more frequently dyspnea at onset, had higher D-dimer, C-reactive protein and urea nitrogen. The dashboard was developed to support the management of COVID-19 patients at three levels: hospital, single ward and individual care level. Interpretation: The COVID-19 Data Mart based on integration of a large collection of clinical data and an AI-based integrated framework has been developed, based on a set of automated procedures for data mining and retrieval, transformation and integration, and has been embedded in the clinical practice to help managing daily care. Benefits from the availability of a Data Mart include the oppor
- Published
- 2022
41. Allogeneic Hemopoietic Stem Cell Transplantation for Myelofibrosis: 2021
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Bacigalupo, Andrea, Innocenti, Idanna, Rossi, Elena, Sora', Federica, Galli, Eugenio, Autore, Francesco, Metafuni, Elisabetta, Chiusolo, Patrizia, Giammarco, S., Laurenti, Luca, Benintende, G., Sica, Simona, De Stefano, Valerio, Bacigalupo A. (ORCID:0000-0002-9119-567X), Innocenti I., Rossi E. (ORCID:0000-0002-7572-9379), Sora F. (ORCID:0000-0002-9607-5298), Galli E., Autore F., Metafuni E., Chiusolo P. (ORCID:0000-0002-1355-1587), Laurenti L. (ORCID:0000-0002-8327-1396), Sica S. (ORCID:0000-0003-2426-3465), De Stefano V. (ORCID:0000-0002-5178-5827), Bacigalupo, Andrea, Innocenti, Idanna, Rossi, Elena, Sora', Federica, Galli, Eugenio, Autore, Francesco, Metafuni, Elisabetta, Chiusolo, Patrizia, Giammarco, S., Laurenti, Luca, Benintende, G., Sica, Simona, De Stefano, Valerio, Bacigalupo A. (ORCID:0000-0002-9119-567X), Innocenti I., Rossi E. (ORCID:0000-0002-7572-9379), Sora F. (ORCID:0000-0002-9607-5298), Galli E., Autore F., Metafuni E., Chiusolo P. (ORCID:0000-0002-1355-1587), Laurenti L. (ORCID:0000-0002-8327-1396), Sica S. (ORCID:0000-0003-2426-3465), and De Stefano V. (ORCID:0000-0002-5178-5827)
- Abstract
The aim of this review is to update the current status of allogeneic hemopoietic stem cell transplants (HSCT) for patients with myelofibrosis (MF). We have first summarized the issue of an indication for allogeneic HSCT, discussing several prognostic scoring systems, developed to predict the outcome of MF, and therefore to identify patients who will benefit of an allogeneic HSCT. Patients with low risk MF are usually not selected for a transplant, whereas patients with intermediate or high risk MF are eligible. A separate issue, is how to predict the outcome of HSCT: we will outline a clinical molecular myelofibrosis transplant scoring system (MTSS), which predicts overall survival, ranging from 90% for low risk patients, to 20% for very high risk patients. We will also discuss transfusion burden and spleen size, as predictors of transplant outcome. The choice of a transplant platform including the conditioning regimen, the stem cell source and GvHD prophylaxis, are crucial for a successful program in MF, and will be outlined. Complications such as poor graft function, graft failure, GvHD and relapse of the disease, will also be reviewed. Finally we discuss monitoring the disease after HSCT with donor chimerism, driver mutations and hematologic data. We have made an effort to make this review as comprehensive and up to date as possible, and we hope it will provide some useful data for the clinicians.
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- 2022
42. Photometric redshift estimation based on data mining with PhotoRApToR
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Cavuoti, S., Brescia, M., De Stefano, V., and Longo, G.
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- 2015
- Full Text
- View/download PDF
43. B05: RESULTS FROM A META-ANALYSIS OF CILTACABTAGENE AUTOLEUCEL COMPARED TO PHYSICIAN’S CHOICE OF TREATMENT IN PATIENTS WITH RELAPSED OR REFRACTORY MULTIPLE MYELOMA
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Gay, F, primary, Berdeja, JG, additional, De Stefano, V, additional, Hari, P, additional, Hooper, B, additional, Haltner, A, additional, Kumar, S, additional, Martin, T, additional, Mateos, M-V, additional, Moreau, P, additional, Rosta, E, additional, Samjoo, IA, additional, Usmani, SZ, additional, Weisel, K, additional, Jackson, CC, additional, Olyslager, Y, additional, Schecter, JM, additional, Vogel, M, additional, Garrett, A, additional, Lee, S, additional, Nesheiwat, T, additional, Pacaud, L, additional, Zhou, C, additional, Valluri, S, additional, Costa, LJ, additional, and Lin, Y, additional
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- 2022
- Full Text
- View/download PDF
44. Determinants of early triage for hospitalization in MPN patients with COVID-19
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Barbui T, Carobbio A, Ghirardi A, Iurlo A, Sobas M, Elli E, Rumi E, De Stefano V, Lunghi F, Marchetti M, Daffini R, Gasior Kabat M, Cuevas B, Fox M, Andrade-Campos M, Palandri F, Guglielmelli P, Benevolo G, Harrison C, Foncillas M, Bonifacio M, Alvarez-Larran A, Kiladjian J, Calderon E, Patriarca A, Quiroz Cervantes K, Griesshammer M, Garcia-Gutierrez V, Marin Sanchez A, Mazo E, Carli G, Hernandez-Boluda J, Osorio S, Carreno-Tarragona G, Serrano M, Kusec R, Elorza B, Angona A, Cirici B, Lopez Abadia E, Koschmieder S, Cattaneo D, Bucelli C, Cichocka E, de Nalecz A, Cavalca F, Borsani O, Betti S, Bellini M, Curto-Garcia N, Rambaldi A, and Vannucchi A
- Published
- 2022
45. Algorithmic discrimination, the role of GPS and the limited scope of EU non-discrimination law
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Kullmann, M., Gramano, E., De Stefano, V., and Durri, I.
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- 2022
46. Primary plasma cell leukemia: a retrospective multicenter study of 73 patients
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Pagano, L., Valentini, C.G., De Stefano, V., Venditti, A., Visani, G., Petrucci, M.T., Candoni, A., Specchia, G., Visco, C., Pogliani, E.M., Ferrara, F., Galieni, P., Gozzetti, A., Fianchi, L., De Muro, M., Leone, G., Musto, P., and Pulsoni, A.
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- 2011
- Full Text
- View/download PDF
47. Autologous Bone Marrow Transplantation with Peripheral Stem Cells In vivo Expanded by Chemotherapy and G-CSF
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Leone, G., Sica, S., Teofili, L., Rutella, S., Iovino, S., Pierelli, L., Menichella, G., Storti, S., De Stefano, V., Azzi, A., editor, Packer, L., editor, Cittadini, A., editor, Baserga, R., editor, Pinedo, H. M., editor, Galeotti, T., editor, and Corda, D., editor
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- 1993
- Full Text
- View/download PDF
48. Addressing and proposing solutions for unmet clinical needs in the management of myeloproliferative neoplasm-associated thrombosis: A consensus-based position paper
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Barbui, T, De Stefano, V, Falanga, A, Finazzi, G, Martinelli, I, Rodeghiero, F, Vannucchi, A, Barosi, G, Barbui T, De Stefano V, Falanga A, Finazzi G, Martinelli I, Rodeghiero F, Vannucchi AM, Barosi G, Barbui, T, De Stefano, V, Falanga, A, Finazzi, G, Martinelli, I, Rodeghiero, F, Vannucchi, A, Barosi, G, Barbui T, De Stefano V, Falanga A, Finazzi G, Martinelli I, Rodeghiero F, Vannucchi AM, and Barosi G
- Abstract
This article presents the results of a group discussion among an ad hoc constituted Panel of experts aimed at highlighting unmet clinical needs (UCNs) in the management of thrombotic risk and thrombotic events associated with Philadelphia-negative myeloproliferative neoplasms (Ph-neg MPNs). With the Delphi technique, the challenges in Ph-neg MPN-associated thrombosis were selected. The most clinically relevant UCNs resulted in: (1) providing evidence of the benefits and risks of direct oral anticoagulants, (2) providing evidence of the benefits and risks of cytoreduction in patients with splanchnic vein thrombosis without hypercythemia, (3) improving knowledge of the role of the mutated endothelium in the pathogenesis of thrombosis, (4) improving aspirin dosing regimens in essential thrombocythemia, (5) improving antithrombotic management of Ph-neg MPN-associated pregnancy, (6) providing evidence for the optimal duration of anticoagulation for prophylaxis of recurrent VTE, (7) improving knowledge of the association between somatic gene mutations and risk factors for thrombosis, and (8) improving the grading system of thrombosis risk in polycythemia vera. For each of these issues, proposals for advancement in research and clinical practice were addressed. Hopefully, this comprehensive overview will serve to inform the design and implementation of new studies in the field.
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- 2019
49. Preoperative autologous blood donation in adult bone marrow donors: reappraisal of a single-centre experience
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Teofili, L., Valentini, C. G., Bianchi, M., Pellegrino, C., Bellesi, S., Chiusolo, P., Laurenti, L., Innocenti, I., De Stefano, V., Bacigalupo, A., Teofili L. (ORCID:0000-0002-7214-1561), Bianchi M., Pellegrino C., Bellesi S., Chiusolo P. (ORCID:0000-0002-1355-1587), Laurenti L. (ORCID:0000-0002-8327-1396), Innocenti I., De Stefano V. (ORCID:0000-0002-5178-5827), Bacigalupo A. (ORCID:0000-0002-9119-567X), Teofili, L., Valentini, C. G., Bianchi, M., Pellegrino, C., Bellesi, S., Chiusolo, P., Laurenti, L., Innocenti, I., De Stefano, V., Bacigalupo, A., Teofili L. (ORCID:0000-0002-7214-1561), Bianchi M., Pellegrino C., Bellesi S., Chiusolo P. (ORCID:0000-0002-1355-1587), Laurenti L. (ORCID:0000-0002-8327-1396), Innocenti I., De Stefano V. (ORCID:0000-0002-5178-5827), and Bacigalupo A. (ORCID:0000-0002-9119-567X)
- Abstract
To avoid risk for allogeneic transfusions in healthy bone marrow (BM) donors, 1–2 preoperative autologous blood donations (PAD) are usually collected before the BM harvest. We analysed the haematological parameters in BM donors before and after the harvest, to assess the efficacy of this practice in limiting the postharvest anaemia. Overall, 102 consecutive donors underwent BM harvest preceded by one (26 cases) or two PAD (76 cases), which were infused during BM collection. We analysed the parameters related to donors, PAD timing and BM graft characteristics. PAD induced a significant decrease in Hb (from 14·6 g/dl, IQ range 13·3–15·5 to12·9 g/dl, IQ range 11·8–13·9; P < 0·0001) in all donors, with a median Hb loss at day −1 of 10·9% (IQ range 6·8–14·2). The PAD-related Hb decrease was independent of sex or number of PAD, and was inversely related to the time elapsed from first or last PAD. In comparison with values recorded at day-1, BM harvest produced an additional Hb decrease, accounting for a median Hb loss of 18·9% (IQ range 14·9–24·4). Overall, in comparison with pre-PAD values, Hb levels at day +1 were reduced of 28·9% (IQ range 23·6–32·2), independently if donors had 1 or 2 PAD reinfused. In conclusion, these data show that two PAD do not carry any advantage over one PAD. An eventual benefit of PAD can be achieved only if an adequate interval between PAD and BM harvest elapses. Prospective randomized studies could be worth to establish if any role for PAD does exist in BM donors.
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- 2019
50. Identification of novel mutations in patients with fibrinogen disorders and genotype/phenotype correlations
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Chinni, E., Tiscia, G., Favuzzi, G., Cappucci, F., Malcangi, G., Bagna, R., Izzi, C., Rizzi, D., De Stefano, V., Grandone, E., De Stefano V. (ORCID:0000-0002-5178-5827), Chinni, E., Tiscia, G., Favuzzi, G., Cappucci, F., Malcangi, G., Bagna, R., Izzi, C., Rizzi, D., De Stefano, V., Grandone, E., and De Stefano V. (ORCID:0000-0002-5178-5827)
- Abstract
Background. Congenital fibrinogen disorders are caused by variants occurring within the fibrinogen gene cluster. We describe ten subjects with disease-causative variants, adding information on such disorders. Materials and methods. Ten subjects were referred to our Centre because of likely hypo/ dysfibrinogenaemia. We evaluated the function and quantity of fibrinogen, using Clauss and immunoreactive assays, and performed genetic investigations by direct sequencing of alpha, beta and gamma chain-encoding genes. Mutations were analysed using SIFT and Polyphen-2 algorithms. Results. We identified one afibrinogenaemic patient (alpha p.Arg178∗Homozygote) with bleeding/ thrombotic events, three heterozygous patients with hypo/dysfibrinogenaemia (gamma p.Thr47ILeu combined with beta IVS7+1G>T; beta p.Cys95Ser; beta p.Arg196Cys) referred for bleeding or thrombotic episodes and six heterozygous subjects with hypofibrinogenaemia (alpha p.Glu41Lys; gamma p.Gly191Val; beta p.Gly288Ser; gamma p.His333Arg; gamma p.Asp342Glu and p.343-344 duplication; gamma p.Asp356Val), of whom four were symptomatic. Five novel missense changes and one novel duplication variant were found, all in hypofibrinogenaemic subjects: P.Glu41Lys (SIFT score 0, Polyphen-2 score 0.986) was identified in a woman with bleeding after major orthopaedic surgery; p.Gly191Val (SIFT score 0.02, Polyphen-2 score 1) in an asymptomatic woman; p.His333Arg (SIFT score 0, Polyphen-2 score 1) in a woman with a post-partum haemorrhage; and p.Asp342Glu (SIFT score 0.23, Polyphen-2 score 0.931); and an Asn-343 and Asp-344 duplication in a child who developed a haematoma following a fall. Discussion. All but one of the novel mutations were in symptomatic subjects and are predicted to be deleterious. Our findings shed more light on genotype-phenotype relationships in congenital fibrinogen disorders.
- Published
- 2019
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