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2. Two novel families with RUNX1 variants indicate glycine 168 as a new mutational hotspot: Implications for FPD/AML diagnosis.

Author

Kamiya, Laureano J., Barozzi, Serena, Isidori, Federica, Ganiewich, Daiana, De Luca, Geraldine, Bozzi, Valeria, Marta, Rosana F., Melazzini, Federica, Pippucci, Tommaso, Heller, Paula G., Glembotsky, Ana C., and Pecci, Alessandro

Subjects
GENETIC disorders, MISSENSE mutation, AMINO acids, STRUCTURAL models, LEUKEMIA
Abstract

Correct interpretation of the pathogenicity of germline RUNX1 variants is essential for FPD/AML diagnosis, clinical management and leukaemia surveillance. We report two families with clear FPD/AML phenotypic features harbouring missense variants at RHD critical residue Gly168. Although classified as of unknown significance (VUS) by RUNX1‐specific curation guidelines, these variants should rather be considered likely pathogenic, as supported by computational tools, structural modelling and dysregulated platelet expression of RUNX1‐targets, adding Gly168 among amino acids currently recognised as mutational hotspots. Our data could help reduce the number of variants classified as VUS, providing evidence for updating RUNX1 guidelines, thus improving FPD/AML diagnosis. [ABSTRACT FROM AUTHOR]

Published
2024
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4. Specifications of the variant curation guidelines for ITGA2B/ITGB3: ClinGen Platelet Disorder Variant Curation Panel

Author

Ross, Justyne E., Zhang, Bing M., Lee, Kristy, Mohan, Shruthi, Branchford, Brian R., Bray, Paul, Dugan, Stefanie N., Freson, Kathleen, Heller, Paula G., Kahr, Walter H.A., Lambert, Michele P., Luchtman-Jones, Lori, Luo, Minjie, Perez Botero, Juliana, Rondina, Matthew T., Ryan, Gabriella, Westbury, Sarah, Bergmeier, Wolfgang, and Di Paola, Jorge

Published
2021
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5. Validation of the ISTH/SSC bleeding assessment tool for inherited platelet disorders: A communication from the Platelet Physiology SSC

Author

Gresele, Paolo, Orsini, Sara, Noris, Patrizia, Falcinelli, Emanuela, Alessi, Marie Christine, Bury, Loredana, Borhany, Munira, Santoro, Cristina, Glembotsky, Ana C., Cid, Ana Rosa, Tosetto, Alberto, De Candia, Erica, Fontana, Pierre, Guglielmini, Giuseppe, Pecci, Alessandro, Heller, Paula G., Rodorigo, Giuseppina, Lammle, Bernhard, Trinchero, Alice, Paolo, Radossi, Ferrari, Silvia, Rancitelli, Davide, Stolinski, Amy, Arulselvan, Abinaya, Lassandro, Giuseppe, Luceros, Analia Sanchez, Jandrot‐Perrus, Martine, Kunishima, Shinji, Rivera Pozo, José, Lordkipanidzé, Marie, Melazzini, Federica, Falaise, Céline, Casonato, Alessandra, Podda, Gianmarco, Kannan, Meganathan, Jurk, Kerstin, Sevivas, Teresa, Castaman, Giancarlo, Grandone, Elvira, Fiore, Mathieu, Zuniga, Pamela, Henskens, Yvonne, Miyazaki, Koji, Dupuis, Arnaud, Hayward, Catherine, Zaninetti, Carlo, Abid, Madiha, Ferrara, Grazia, Mazzucconi, Maria Gabriella, Tagariello, Giuseppe, James, Paula, Fabris, Fabrizio, Russo, Alexandra, Bermejo, Nuria, Napolitano, Mariasanta, Curnow, Jennifer, Vasiliki, Gkalea, Zieger, Barbara, Fedor, Marian, Chitlur, Meera, Lambert, Michele, Barcella, Luca, Cosmi, Benilde, Giordano, Paola, Porri, Claudia, Eker, Ibrahim, Morel‐Kopp, Marie‐Christine, Deckmyn, Hans, Frelinger, Andrew L., III, Harrison, Paul, Mezzano, Diego, and Mumford, Andrew D.

Published
2020
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6. High cell-free DNA is associated with disease progression, inflammasome activation and elevated levels of inflammasome-related cytokine IL-18 in patients with myelofibrosis

Author

De Luca, Geraldine, primary, Lev, Paola R., additional, Camacho, Maria F., additional, Goette, Nora P., additional, Sackmann, Federico, additional, Castro Ríos, Miguel A., additional, Moiraghi, Beatriz, additional, Cortes Guerrieri, Veronica, additional, Bendek, Georgina, additional, Carricondo, Emiliano, additional, Enrico, Alicia, additional, Vallejo, Veronica, additional, Varela, Ana, additional, Khoury, Marina, additional, Gutierrez, Marina, additional, Larripa, Irene B., additional, Marta, Rosana F., additional, Glembotsky, Ana C., additional, and Heller, Paula G., additional

Published
2023
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8. Platelet diameters in inherited thrombocytopenias: analysis of 376 patients with all known disorders

Author

Noris, Patrizia, Biino, Ginevra, Pecci, Alessandro, Civaschi, Elisa, Savoia, Anna, Seri, Marco, Melazzini, Federica, Loffredo, Giuseppe, Russo, Giovanna, Bozzi, Valeria, Notarangelo, Lucia Dora, Gresele, Paolo, Heller, Paula G., Pujol-Moix, Nuria, Kunishima, Shinji, Cattaneo, Marco, Bussel, James, De Candia, Erica, Cagioni, Claudia, Ramenghi, Ugo, Barozzi, Serena, Fabris, Fabrizio, and Balduini, Carlo L.

Published
2014
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13. A Deep Dive into the Pathology of Gray Platelet Syndrome: New Insights on Immune Dysregulation

Author

Glembotsky,Ana C, De Luca,Geraldine, and Heller,Paula G

Subjects
Journal of Blood Medicine
Abstract

Ana C Glembotsky,1,2 Geraldine De Luca,1,2 Paula G Heller1,2 1Departamento Hematología Investigación, Instituto de Investigaciones Médicas “Dr. A. Lanari”, Facultad de Medicina, Universidad de Buenos Aires, Buenos Aires, Argentina; 2Departamento Hematología Investigación, Consejo Nacional de Investigaciones Científicas y Técnicas (CONICET), Universidad de Buenos Aires, Instituto de Investigaciones Médicas (IDIM), Buenos Aires, ArgentinaCorrespondence: Paula G HellerDepartamento Hematología Investigación,Instituto de Investigaciones Médicas “Dr. A. Lanari”, Facultad de Medicina, Universidad de Buenos Aires, Combatientes de Malvinas 3150, Buenos Aires, 1427, ArgentinaTel +54 11 5287 3872Email paulaheller@hotmail.comAbstract: The gray platelet syndrome (GPS) is a rare platelet disorder, characterized by impaired alpha-granule biogenesis in megakaryocytes and platelets due to NBEAL2 mutations. Typical clinical features include macrothrombocytopenia, bleeding and elevated vitamin B12 levels, while bone marrow fibrosis and splenomegaly may develop during disease progression. Recently, the involvement of other blood lineages has been highlighted, revealing the role of NBEAL2 outside the megakaryocyte-platelet axis. Low leukocyte counts, decreased neutrophil granulation and impaired neutrophil extracellular trap formation represent prominent findings in GPS patients, reflecting deranged innate immunity and associated with an increased susceptibility to infection. In addition, low numbers and impaired degranulation of NK cells have been demonstrated in animal models. Autoimmune diseases involving different organs and a spectrum of autoantibodies are present in a substantial proportion of GPS patients, expanding the syndromic spectrum of this disorder and pointing to dysregulation of the adaptive immune response. Low-grade inflammation, as evidenced by elevation of liver-derived acute-phase reactants, is another previously unrecognized feature of GPS which may contribute to disease manifestations. This review will focus on the mechanisms underlying the pathogenesis of blood cell abnormalities in human GPS patients and NBEAL2-null animal models, providing insight into the effects of NBEAL2 in hemostasis, inflammation and immunity.Keywords: NBEAL2, gray platelet syndrome, α-granules, immune dysregulation, neutrophils

Published
2021

14. Pathogenic mechanisms contributing to thrombocytopenia in patients with systemic lupus erythematosus

Author

Baroni Pietto, M. Constanza, primary, Lev, Paola R., additional, Glembotsky, Ana C., additional, Marín Oyarzún, Cecilia P., additional, Gomez, Graciela, additional, Collado, Victoria, additional, Pisoni, Cecilia, additional, Gomez, Ramiro A., additional, Grodzielski, Matías, additional, Gonzalez, Jacqueline, additional, Mariño, Karina V., additional, Heller, Paula G., additional, Goette, Nora P., additional, and Marta, Rosana F., additional

Published
2021
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15. Spectrum of the Mutations in Bernard–Soulier Syndrome

Author

Savoia, Anna, Kunishima, Shinji, De Rocco, Daniela, Zieger, Barbara, Rand, Margaret L., Pujol-Moix, Nuria, Caliskan, Umran, Tokgoz, Huseyin, Pecci, Alessandro, Noris, Patrizia, Srivastava, Alok, Ward, Christopher, Morel-Kopp, Marie-Christine, Alessi, Marie-Christine, Bellucci, Sylvia, Beurrier, Philippe, de Maistre, Emmanuel, Favier, Rémi, Hézard, Nathalie, Hurtaud-Roux, Marie-Françoise, Latger-Cannard, Véronique, Lavenu-Bombled, Cécile, Proulle, Valérie, Meunier, Sandrine, Négrier, Claude, Nurden, Alan, Randrianaivo, Hanitra, Fabris, Fabrizio, Platokouki, Helen, Rosenberg, Nurit, HadjKacem, Basma, Heller, Paula G., Karimi, Mehran, Balduini, Carlo L., Pastore, Annalisa, and Lanza, Francois

Published
2014
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17. The ISTH bleeding assessment tool as predictor of bleeding events in inherited platelet disorders: Communication from the ISTH SSC Subcommittee on Platelet Physiology

Author

Gresele, Paolo, primary, Falcinelli, Emanuela, additional, Bury, Loredana, additional, Pecci, Alessandro, additional, Alessi, Marie‐Christine, additional, Borhany, Munira, additional, Heller, Paula G., additional, Santoro, Cristina, additional, Cid, Ana Rosa, additional, Orsini, Sara, additional, Fontana, Pierre, additional, De Candia, Erica, additional, Podda, Gianmarco, additional, Kannan, Meganathan, additional, Jurk, Kerstin, additional, Castaman, Giancarlo, additional, Falaise, Céline, additional, Guglielmini, Giuseppe, additional, Noris, Patrizia, additional, Zaninetti, Carlo, additional, Fiore, Mathieu, additional, Tosetto, Alberto, additional, Zuniga, Pamela, additional, Miyazaki, Koji, additional, Dupuis, Arnaud, additional, Hayward, Catherine, additional, Casonato, Alessandra, additional, Grandone, Elvira, additional, Mazzucconi, Maria Gabriella, additional, James, Paula, additional, Fabris, Fabrizio, additional, Henskens, Yvonne, additional, Napolitano, Mariasanta, additional, Curnow, Jennifer, additional, Gkalea, Vasiliki, additional, Fedor, Marian, additional, Lambert, Michele P., additional, Zieger, Barbara, additional, Barcella, Luca, additional, Cosmi, Benilde, additional, Giordano, Paola, additional, Porri, Claudia, additional, Melazzini, Federica, additional, Abid, Madiha, additional, Glembotsky, Ana C., additional, Ferrara, Grazia, additional, Russo, Alexandra, additional, Deckmyn, Hans, additional, Frelinger, Andrew L., additional, Harrison, Paul, additional, Mezzano, Diego, additional, Mumford, Andrew D, additional, and Lordkipanidzé, Marie, additional

Published
2021
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18. MYH9-Related Disease: A Novel Prognostic Model to Predict the Clinical Evolution of the Disease Based on Genotype–Phenotype Correlations

Author

Pecci, Alessandro, Klersy, Catherine, Gresele, Paolo, Lee, Kieran J.D., De Rocco, Daniela, Bozzi, Valeria, Russo, Giovanna, Heller, Paula G., Loffredo, Giuseppe, Ballmaier, Matthias, Fabris, Fabrizio, Beggiato, Eloise, Kahr, Walter H.A., Pujol-Moix, Nuria, Platokouki, Helen, Van Geet, Christel, Noris, Patrizia, Yerram, Preethi, Hermans, Cedric, Gerber, Bernhard, Economou, Marina, De Groot, Marco, Zieger, Barbara, De Candia, Erica, Fraticelli, Vincenzo, Kersseboom, Rogier, Piccoli, Giorgina B., Zimmermann, Stefanie, Fierro, Tiziana, Glembotsky, Ana C., Vianello, Fabrizio, Zaninetti, Carlo, Nicchia, Elena, Güthner, Christiane, Baronci, Carlo, Seri, Marco, Knight, Peter J., Balduini, Carlo L., and Savoia, Anna

Published
2014
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19. Pathogenic mechanisms contributing to thrombocytopenia in patients with systemic lupus erythematosus.

Author

Baroni Pietto, M. Constanza, Lev, Paola R., Glembotsky, Ana C., Marín Oyarzún, Cecilia P., Gomez, Graciela, Collado, Victoria, Pisoni, Cecilia, Gomez, Ramiro A., Grodzielski, Matías, Gonzalez, Jacqueline, Mariño, Karina V., Heller, Paula G., Goette, Nora P., and Marta, Rosana F.

Subjects
THROMBOPOIETIN receptors, CORD blood, PLATELET count, THROMBOCYTOPENIA, BLOOD platelet disorders, MEMBRANE potential, MITOCHONDRIAL membranes, SYSTEMIC lupus erythematosus
Abstract

Systemic lupus erythematosus (SLE) is an autoimmune condition developing thrombocytopenia in about 10–15% of cases, however, mechanisms leading to low platelet count were not deeply investigated in this illness. Here we studied possible causes of thrombocytopenia, including different mechanisms of platelet clearance and impairment in platelet production. Twenty-five SLE patients with and without thrombocytopenia were included. Platelet apoptosis, assessed by measurement of loss of mitochondrial membrane potential, active caspase 3 and phosphatidylserine exposure, was found to increase in thrombocytopenic patients. Plasma from 67% SLE patients (thrombocytopenic and non-thrombocytopenic) induced loss of sialic acid (Ricinus communis agglutinin I and/or Peanut agglutinin binding) from normal platelet glycoproteins. Concerning platelet production, SLE plasma increased megakaryopoiesis (evaluated using normal human cord blood CD34+ hematopoietic progenitors), but inhibited thrombopoiesis (proplatelet count). Anti-platelet autoantibody depletion from SLE plasma reverted this inhibition. Overall, abnormalities were more frequently observed in thrombocytopenic than non-thrombocytopenic SLE patients and in those with active disease (SLEDAI≥5). In conclusion, platelet clearance due to apoptosis and desialylation, and impaired platelet production mainly due to inhibition of thrombopoiesis, could be relevant mechanisms leading to thrombocytopenia in SLE. These findings could provide a rational basis for the choice of proper therapies to correct platelet counts in these patients. [ABSTRACT FROM AUTHOR]

Published
2022
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20. Platelet Toll-Like Receptors Mediate Thromboinflammatory Responses in Patients With Essential Thrombocythemia

Author

Marín Oyarzún, Cecilia P., primary, Glembotsky, Ana C., additional, Goette, Nora P., additional, Lev, Paola R., additional, De Luca, Geraldine, additional, Baroni Pietto, María C., additional, Moiraghi, Beatriz, additional, Castro Ríos, Miguel A., additional, Vicente, Angeles, additional, Marta, Rosana F., additional, Schattner, Mirta, additional, and Heller, Paula G., additional

Published
2020
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24. Position of Nonmuscle Myosin Heavy Chain IIA (NMMHC-IIA) Mutations Predicts the Natural History of MYH9-Related Disease

Author

Pecci, Alessandro, Panza, Emanuele, Pujol-Moix, Núria, Klersy, Catherine, Bari, Filomena Di, Bozzi, Valeria, Gresele, Paolo, Lethagen, Stefan, Fabris, Fabrizio, Dufour, Carlo, Granata, Antonio, Doubek, Michael, Pecoraro, Carmine, Koivisto, Pasi A., Heller, Paula G., Iolascon, Achille, Alvisi, Patrizia, Schwabe, Dirk, Candia, Erica De, Rocca, Bianca, Russo, Umberto, Ramenghi, Ugo, Noris, Patrizia, Seri, Marco, Balduini, Carlo L., and Savoia, Anna

Published
2008
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26. Feno-genotipificación de trombocitopenias hereditarias: nuestra experiencia en 50 familias

Author

Heller, Paula G., Goette, Nora P., Marin Oyarzún, Cecilia P., Baroni Pietto, María C., Ayala, Daniela, Altuna, Diana R., Arrieta, María E., Arbesú, Guillermo, Basquiera, Ana L., Bazack, Nora, Bonacorso, Silvina, Brodsky, Andrés, Castro Ríos, Miguel, Cosentini, María L., Donato, Hugo, Korin, Jorge D., Gomez, Silvina, Guglielmone, Hugo, Lagrotta, Pablo, Marti, Alejandra, Negro, Fernando, Rapetti, María C., Rosso, Diego, Ponzinibbio, Carlos, Veber, Ernesto, Zerga, Marta E., Molinas, Felisa C., Savoia, Anna, Pecci, Alessandro, Marta, Rosana F., Glembotsky, Ana Claudia, Heller, Paula G., Goette, Nora P., Marin Oyarzún, Cecilia P., Baroni Pietto, María C., Ayala, Daniela, Altuna, Diana R., Arrieta, María E., Arbesú, Guillermo, Basquiera, Ana L., Bazack, Nora, Bonacorso, Silvina, Brodsky, Andrés, Castro Ríos, Miguel, Cosentini, María L., Donato, Hugo, Korin, Jorge D., Gomez, Silvina, Guglielmone, Hugo, Lagrotta, Pablo, Marti, Alejandra, Negro, Fernando, Rapetti, María C., Rosso, Diego, Ponzinibbio, Carlos, Veber, Ernesto, Zerga, Marta E., Molinas, Felisa C., Savoia, Anna, Pecci, Alessandro, Marta, Rosana F., and Glembotsky, Ana Claudia

Abstract

Diagnosis of inherited thrombocytopenias represents a true challenge owing to heterogeneity of these disorders and the absence of distinctive features in a substantial proportion of patients. Classical diagnostic approach is based on phenotypic characterization followed by molecular analysis of candidate genes guided by clinical suspicion. The introduction of next generation sequencing (NGS), that allows multiple genes analysis, is a high-cost alternative with limited access in our country. The aim of this work was to evaluate the utility of the classical approach in a consecutive cohort of 50 families and to describe the application of NGS in a subgroup of patients without an etiological diagnosis after the initial approach.Through the conventional approach, an etiologic diagnosis was made in 27 (54%) families. NGS wasperformed in 8 that remained without diagnosis after initial characterization, attaining a diagnosis in4. Combining both approaches, the diagnostic yield was 31/50 (62%) families: 38% MYH9-related disorder, 8% Bernard-Soulier syndrome, 4% gray platelet syndrome, 4% familial platelet disorder with predisposition to leukemia, 6% ANKRD26-related thrombocytopenia, 2% Wiskott-Aldrich syndrome. Most patients without diagnosis had isolated macrothrombocytopenia and mild bleeding. NGS increased the diagnostic rate in this cohort, although it would be necessary to expand the population to establish its actual value in our setting. Therefore, the use of the classical approach and subsequent application of NGS in undiagnosed patients would represent a useful alternative in low-income countries, pointing out that a correct etiological diagnosis enables the detection of syndromic complications, appropriate treatment and adequate genetic counseling., Dada la heterogeneidad de las entidades comprendidas en las trombocitopenias hereditarias y la escasezde marcadores distintivos, su diagnóstico constituye un verdadero desafío. El abordaje clásico se basa en la caracterización fenotípica seguida del estudio molecular de genes candidatos, orientado según la sospecha clínica. La introducción de la secuenciación de nueva generación (NGS), que permite evaluar múltiples genes simultáneamente, constituye una alternativa diagnóstica de alto costo, siendo de acceso limitado en nuestro medio. Nos propusimos evaluar la utilidad del abordaje clásico en una cohorte consecutiva de 50 familias y describir la aplicación de NGS en un subgrupo de pacientes sin diagnóstico etiológico luego del enfoque clásico. Mediante el abordaje clásico se efectuó el diagnóstico en 27 (54%) familias.Posteriormente, 8 familias que quedaron sin diagnóstico luego del algoritmo clásico, se evaluaron mediante NGS, identificando el gen causal en 4 de ellas.Considerando ambos abordajes, el rédito diagnóstico fue 31/50 (62%) familias, con la siguiente distribución: 38% desorden relacionado a MYH9, 8% síndrome de Bernard-Soulier (4% clásico, 4% monoalélico), 4% síndrome de plaquetas grises, 4% desorden plaquetario con predisposición a leucemia, 6% trombocitopenia relacionada a ANKRD26, 2% síndrome Wiskott-Aldrich. Los pacientes en los que no se pudo efectuar un diagnóstico etiológico presentaban trombocitopenia aislada leve, con aumento moderado del tamaño plaquetario y sangrado escaso.En conclusión, la aplicación de NGS permitió aumentar el rédito diagnóstico, si bien sería necesario ampliar la población estudiada para establecer el valor real de este abordaje en nuestro medio. Por lo tanto, el uso inicial del abordaje clásico, reservándose la aplicación posterior de NGS a los casos que permanecen sin diagnóstico luego de este enfoque, constituiría una alternativa útil en países con pocos recursos, apuntando a un diagnóstico adecuado que posibilite la pesq

Published
2020

27. Gray platelet syndrome: Novel mutations of the NBEAL2 gene

Author

Bottega Roberta, Nicchia Elena, Alfano Caterina, Glembotsky Ana C., Pastore Annalisa, Bertaggia-Calderara Debora, Bisig Bettina, Duchosal Michel A., Arbesú Guillermo, Alberio Lorenzo, Heller Paula G., Savoia Anna, Bottega, Roberta, Nicchia, Elena, Alfano, Caterina, Glembotsky, Ana C., Pastore, Annalisa, Bertaggia Calderara, Debora, Bisig, Bettina, Duchosal, Michel A., Arbesú, Guillermo, Alberio, Lorenzo, Heller, Paula G., Savoia, Anna, Glembotsky Ana, C., Bertaggia-Calderara, Debora, Duchosal Michel, A., and Heller Paula, G.

Subjects
Salud Ocupacional, CIENCIAS MÉDICAS Y DE LA SALUD, gray platelet syndrome, platelets, Ciencias de la Salud, Hematology, NBEAL2, mutations
Abstract

Gray platelet syndrome (GPS) is a rare inherited macrothrombocytopenia characterized by reduction of a-granules in platelets and megakaryocytes associated with mild-tomoderate bleeding and myelofibrosis [1]. As reported in at least 28 unrelated families [1], GPS is caused by mutations of NBEAL2, the gene encoding for the neurobeachin-like-2 protein. NBEAL2 is a member of the family containing the BEACH (BEige And Chediak Higashi) domain, a conserved region involved in vesicular trafficking that may be critical for the a-granule development [2]. Here, we report novel mutations of NBEAL2 in two affected individuals (P1 and P2), who were previously diagnosed with immune thrombocytopenia (ITP) and then suspected to have GPS because of absence of azurophilic granules on May-Grunwald-Giemsa staining. In P1, sequencing analysis identified an € homozygous missense variant (c.6212G > C; p.Arg2071Pro; Supporting Information Fig. S1). Since her parents were not available for the segregation analysis, we hypothesised that the two mutant alleles were identical by descent because of homozygosity of all the polymorphic markers at the NBEAL2 locus (data not shown). Moreover, the potential hemizygous condition was excluded using statistical analyses of NBEAL2 amplicon coverage as previously reported (Supporting Information Fig. S1C) [3]. In P2, we detected one maternal nonsense (c.3839C > T; p.Arg1280*) and one paternal missense (c.6477C > G; p.His2159Gln; Supporting Information Fig. S1). The three NBEAL2 variants are reported in SNPs databases but with a minor allele frequency

Published
2017
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29. Publisher Correction: Multiple concomitant mechanisms contribute to low platelet count in patients with immune thrombocytopenia

Author

Grodzielski, Matías, primary, Goette, Nora P., additional, Glembotsky, Ana C., additional, Constanza Baroni Pietto, M., additional, Méndez-Huergo, Santiago P., additional, Pierdominici, Marta S., additional, Montero, Verónica S., additional, Rabinovich, Gabriel A., additional, Molinas, Felisa C., additional, Heller, Paula G., additional, Lev, Paola R., additional, and Marta, Rosana F., additional

Published
2020
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30. Real World Data on Obstetric (OC) and Maternal Complications (MC) Occurring in a Cohort of Patients with Ph Negative Myeloproliferative Neoplasms (MPN): Argentinian Multicentric Study

Author

Vicente, Angeles, primary, Heller, Paula G., additional, Bendek, Georgina, additional, Sackmann, Federico, additional, Varela, Ana Ines, additional, Castro Rios, Miguel, additional, Elhelou, Ludmila, additional, Vallejo, Verónica, additional, Moiraghi, Beatriz, additional, Narbaitz, Marina, additional, Vijnovich Baron, Anahí, additional, Roveri, Eriberto, additional, Casali, Claudia, additional, Ponzinibio, Carlos, additional, Iastrebner, Marcelo, additional, Gomez, María Susana, additional, Garcia, Celeste, additional, Peretz, Federico Sebastian, additional, Cardenas, Paula, additional, Enrico, Alicia, additional, Remaggi, Guillermina, additional, Boughen, Santiago, additional, Larripa, Irene, additional, Carricondo, Emiliano, additional, Caruso, Vanesa, additional, Perez, Mariel, additional, and Kornblihtt, Laura, additional

Published
2019
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31. Antithrombotic prophylaxis for surgery-associated venous thromboembolism risk in patients with inherited platelet disorders. The SPATA-DVT Study

Author

Paciullo, Francesco, primary, Bury, Loredana, additional, Noris, Patrizia, additional, Falcinelli, Emanuela, additional, Melazzini, Federica, additional, Orsini, Sara, additional, Zaninetti, Carlo, additional, Abdul-Kadir, Rezan, additional, Obeng-Tuudah, Deborah, additional, Heller, Paula G., additional, Glembotsky, Ana C., additional, Fabris, Fabrizio, additional, Rivera, Jose, additional, Lozano, Maria Luisa, additional, Butta, Nora, additional, Favier, Remi, additional, Cid, Ana Rosa, additional, Fouassier, Marc, additional, Podda, Gian Marco, additional, Santoro, Cristina, additional, Grandone, Elvira, additional, Henskens, Yvonne, additional, Nurden, Paquita, additional, Zieger, Barbara, additional, Cuker, Adam, additional, Devreese, Katrien, additional, Tosetto, Alberto, additional, De Candia, Erica, additional, Dupuis, Arnaud, additional, Miyazaki, Koji, additional, Othman, Maha, additional, and Gresele, Paolo, additional

Published
2019
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33. Multiple concomitant mechanisms contribute to low platelet count in patients with immune thrombocytopenia

Author

Grodzielski, Matías, primary, Goette, Nora P., additional, Glembotsky, Ana C., additional, Constanza Baroni Pietto, M., additional, Méndez-Huergo, Santiago P., additional, Pierdominici, Marta S., additional, Montero, Verónica S., additional, Rabinovich, Gabriel A., additional, Molinas, Felisa C., additional, Heller, Paula G., additional, Lev, Paola R., additional, and Marta, Rosana F., additional

Published
2019
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34. Downregulation of TREM-like transcript-1 and collagen receptor α2 subunit, two novel RUNX1-targets, contributes to platelet dysfunction in familial platelet disorder with predisposition to acute myelogenous leukemia

Author

Glembotsky, Ana C., primary, Sliwa, Dominika, additional, Bluteau, Dominique, additional, Balayn, Nathalie, additional, Marin Oyarzún, Cecilia P., additional, Raimbault, Anna, additional, Bordas, Marie, additional, Droin, Nathalie, additional, Pirozhkova, Iryna, additional, Washington, Valance, additional, Goette, Nora P., additional, Marta, Rosana F., additional, Favier, Rémi, additional, Raslova, Hana, additional, and Heller, Paula G., additional

Published
2018
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35. Bleeding risk of surgery and its prevention in patients with inherited platelet disorders. The Surgery in Platelet disorders And Therapeutic Approach (SPATA) study

Author

Orsini, Sara, Noris, Patrizia, Bury, Loredana, Heller, Paula G, Santoro, Cristina, Kadir, Rezan A, Butta, Nora C, Falcinelli, Emanuela, Cid, Ana Rosa, Fabris, Fabrizio, Fouassier, Marc, Miyazaki, Koji, Lozano, Maria Luisa, Zuñiga, Pamela, Flaujac, Claire, Podda, GIAN MARCO, Bermejo, Nuria, Favier, Remi, Henskens, Yvonne, De Maistre, Emmanuel, DE CANDIA, Erica, Mumford, Andrew D, Ozdemir, Nihal G, Eker, Ibrahim, Nurden, Paquita, Bayart, Sophie, Lambert, Michele P, Bussel, James, Zieger, Barbara, Tosetto, Alberto, Melazzini, Federica, Glembotsky, Ana C, Pecci, Alessandro, Cattaneo, MARCO NATALE, Schlegel, Nicole, and Gresele, Paolo

Subjects
INHERITED THROMBOCYTOPENIA, Platelets, CIENCIAS MÉDICAS Y DE LA SALUD, SURGERY, Disorders of Platelet Function, Settore MED/09 - MEDICINA INTERNA, Medicina Clínica, bacterial infections and mycoses, PLATELETS, bleeding risk, inherited platelet disorders, BLEEDING, purl.org/becyt/ford/3.2 [https], Journal Article, ComputingMethodologies_DOCUMENTANDTEXTPROCESSING, purl.org/becyt/ford/3 [https], Medicina Critica y de Emergencia, GeneralLiterature_REFERENCE(e.g.,dictionaries,encyclopedias,glossaries)
Abstract

Excessive bleeding at surgery is a feared complication in patients with inherited platelet disorders (IPD), however very few studies have evaluated the frequency of surgical bleeding in these hemorrhagic disorders. We performed a multicentric, retrospective worldwide study to assess the bleeding complications of surgery, the preventive and therapeutic approaches adopted and their efficacy in patients with IPDs by rating the outcome of 829 surgical procedures carried out in 423 patients with well defined forms of IPD (238 inherited platelet function disorders -IPFD- and 185 inherited platelet number disorders-IPND-). Frequency of surgical bleeding was high in patients with IPD (19.7%), with a significantly higher bleeding incidence in IPFDs (24.8%) than in IPNDs (13.4%). The frequency of bleeding varied according to the type of IPD, with biallelic Bernard Soulier syndrome having the highest occurrence (44.4%), and was predicted by a preoperative WHO bleeding score >/-2. Some types of surgery were associated with a higher bleeding incidence, like cardiovascular and urologic surgery. The use of preoperative prohemostatic treatments was associated with a lower bleeding frequency in patients with IPFD but not in IPNDs. Desmopressin, alone or with antifibrinolytic agents, was the preventive treatment associated with lowest bleedings. Platelet transfusions were used more frequently in patients at higher bleeding risk. Surgical bleeding risk in IPD is substantial, especially in IPFDs, and bleeding history, type of disorder, type of surgery and female gender are associated with higher bleeding frequency. Prophylactic preoperative prohemostatic treatments appear to be required and associated with a lower bleeding incidence. Fil: Orsini, Sara. Università di Perugia; Italia Fil: Noris, Patrizia. University Of Pavia. Policlinico San Matteo; Italia Fil: Bury, Loredana. Università di Perugia; 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: Santoro, Cristina. Università degli studi di Roma ; Italia Fil: Kadir RA. Royal Free Hospital; Reino Unido Fil: Butta, Nora C.. Hospital Universitario la Paz; España Fil: Falcinelli, Emanuela. Università di Perugia; Italia Fil: Cid, Ana Rosa. Hospital Universitario y Politecnico ; España Fil: Fabris, Fabrizio. Università di Padova; Italia Fil: Fouassier, Marc. Centre Hospitalier Universitaire de Nantes; Francia Fil: Miyazaki, Koji. Kitasato University. School Of Medicine; Japón Fil: Lozano, Maria Luisa. Universidad Carlos III de Madrid. Instituto de Salud; España Fil: Zuñiga, Pamela. Pontificia Universidad Católica de Chile; Chile Fil: Flaujac, Claire. Cochin Hospital; Francia Fil: Podda, Gian Marco. Università degli Studi di Milano; Italia Fil: Bermejo, Nuria. Hospital ; España Fil: Favier, Remi. French Reference Centre For Inherited Platelet Disorder; Francia Fil: Henskens, Yvonne. Maastricht University. Medical Centre; Países Bajos Fil: De Maistre, Emmanuel. Centre Hospitalier Universitaire Dijon; Francia Fil: De Candia, Erica. Universitá Cattolica Sacro. Policlinico Agostino Gemelli; Italia Fil: Mumford, Andrew. University Of Bristol. School Of Clinical Sciences; Reino Unido Fil: Ozdemir, Gul Nihal. Cerrahpasa Medical Faculty. Pediatric Hematology Depart; Turquía Fil: Eker, Ibrahim. Gülhane Military Medical Faculty. Pediatric Hematology; Turquía Fil: Nurden, Paquita. Xavier Arnozan Hospital; Francia Fil: Bayart, Sophie. Centre Régional de Traitement Des Hémophiles; Francia Fil: Lambert, Michele P. University of Pennsylvania; Estados Unidos Fil: Bussel, James. Weill Cornell Medicine; Estados Unidos Fil: Zieger, Barbara. University Medical Center Freiburg; Alemania Fil: Tosseto, Alberto. San Bortolo Hospital; Italia Fil: Melazzini, Federica. Università degli studi di Pavia. Policlinico San Matteo; Italia 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: Pecci, Alessandro. Università degli studi di Pavia. Policlinico San Matteo; Italia Fil: Cattaneo, Marco. Università degli Studi di Milano; Italia Fil: Schlegel, Nicole. Centre Hospitalier Universitaire ; Francia Fil: Gresele, Paolo. Università di Perugia; Italia

Published
2017
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37. Bleeding risk of surgery and its prevention in patients with inherited platelet disorders

Author

Orsini, Sara, primary, Noris, Patrizia, additional, Bury, Loredana, additional, Heller, Paula G., additional, Santoro, Cristina, additional, Kadir, Rezan A., additional, Butta, Nora C., additional, Falcinelli, Emanuela, additional, Cid, Ana Rosa, additional, Fabris, Fabrizio, additional, Fouassier, Marc, additional, Miyazaki, Koji, additional, Lozano, Maria Luisa, additional, Zúñiga, Pamela, additional, Flaujac, Claire, additional, Podda, Gian Marco, additional, Bermejo, Nuria, additional, Favier, Remi, additional, Henskens, Yvonne, additional, De Maistre, Emmanuel, additional, De Candia, Erica, additional, Mumford, Andrew D., additional, Ozdemir, Gul Nihal, additional, Eker, Ibrahim, additional, Nurden, Paquita, additional, Bayart, Sophie, additional, Lambert, Michele P., additional, Bussel, James, additional, Zieger, Barbara, additional, Tosetto, Alberto, additional, Melazzini, Federica, additional, Glembotsky, Ana C., additional, Pecci, Alessandro, additional, Cattaneo, Marco, additional, Schlegel, Nicole, additional, and Gresele, Paolo, additional

Published
2017
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38. Mutations ofRUNX1in families with inherited thrombocytopenia

Author

De Rocco, Daniela, primary, Melazzini, Federica, additional, Marconi, Caterina, additional, Pecci, Alessandro, additional, Bottega, Roberta, additional, Gnan, Chiara, additional, Palombo, Flavia, additional, Giordano, Paola, additional, Coccioli, Maria Susanna, additional, Glembotsky, Ana C., additional, Heller, Paula G., additional, Seri, Marco, additional, Savoia, Anna, additional, and Noris, Patrizia, additional

Published
2017
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39. ANKRD26-related thrombocytopenia and myeloid malignancies

Author

Noris, Patrizia, Favier, Remi, Alessi, Marie-Christine, Geddis, Amy E., Kunishima, Shinji, Heller, Paula G., Giordano, Paola, Niederhoffer, Karen Y., Bussel, James B., Podda, Gian Marco, Vianelli, Nicola, Kersseboom, Rogier, Pecci, Alessandro, Gnan, Chiara, Marconi, Caterina, Auvrignon, Anne, Cohen, William, Yu, Jennifer C., Iguchi, Akihiro, Miller Imahiyerobo, Allison, Boehlen, Francoise, Ghalloussi, Dorsaf, De Rocco, Daniela, Magini, Pamela, Civaschi, Elisa, Biino, Ginevra, Seri, Marco, Savoia, Anna, and Balduini, Carlo L.

Published
2013
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40. Nonmuscle Myosin Heavy Chain IIA Mutation Predicts Severity and Progression of Sensorineural Hearing Loss in Patients With MYH9-Related Disease

Author

Verver, Eva J J, Topsakal, Vedat, Kunst, Henricus P M, Huygen, Patrick L M, Heller, Paula G, Pujol-Moix, Nuria, Savoia, Anna, Benazzo, Marco, Fierro, Tiziana, Grolman, Wilko, Gresele, Paolo, Pecci, Alessandro, Verver, Eva J J, Topsakal, Vedat, Kunst, Henricus P M, Huygen, Patrick L M, Heller, Paula G, Pujol-Moix, Nuria, Savoia, Anna, Benazzo, Marco, Fierro, Tiziana, Grolman, Wilko, Gresele, Paolo, and Pecci, Alessandro

Published
2016

41. Nonmuscle Myosin Heavy Chain IIA Mutation Predicts Severity and Progression of Sensorineural Hearing Loss in Patients With MYH9-Related Disease

Author

Zorgeenheid KNO Medisch, Brain, MS KNO, Other research (not in main researchprogram), Verver, Eva J J, Topsakal, Vedat, Kunst, Henricus P M, Huygen, Patrick L M, Heller, Paula G, Pujol-Moix, Nuria, Savoia, Anna, Benazzo, Marco, Fierro, Tiziana, Grolman, Wilko, Gresele, Paolo, Pecci, Alessandro, Zorgeenheid KNO Medisch, Brain, MS KNO, Other research (not in main researchprogram), Verver, Eva J J, Topsakal, Vedat, Kunst, Henricus P M, Huygen, Patrick L M, Heller, Paula G, Pujol-Moix, Nuria, Savoia, Anna, Benazzo, Marco, Fierro, Tiziana, Grolman, Wilko, Gresele, Paolo, and Pecci, Alessandro

Published
2016

44. Platelet Apoptosis in Adult Immune Thrombocytopenia: Insights into the Mechanism of Damage Triggered by Auto-Antibodies

Author

Goette, Nora P., primary, Glembotsky, Ana C., additional, Lev, Paola R., additional, Grodzielski, Matías, additional, Contrufo, Geraldine, additional, Pierdominici, Marta S., additional, Espasandin, Yesica R., additional, Riveros, Dardo, additional, García, Alejandro J., additional, Molinas, Felisa C., additional, Heller, Paula G., additional, and Marta, Rosana F., additional

Published
2016
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45. Correction: Corrigendum: Abnormal proplatelet formation and emperipolesis in cultured human megakaryocytes from gray platelet syndrome patients

Author

Di Buduo, Christian A., primary, Alberelli, Maria Adele, additional, Glembotsky, Ana C., additional, Podda, Gianmarco, additional, Lev, Paola R., additional, Cattaneo, Marco, additional, Landolfi, Raffaele, additional, Heller, Paula G., additional, Balduini, Alessandra, additional, and De Candia, Erica, additional

Published
2016
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48. Autoantibodies in immune thrombocytopenia affect the physiological interaction between megakaryocytes and bone marrow extracellular matrix proteins.

Author

Grodzielski, Matías, Di Buduo, Christian A., Goette, Nora P., Lev, Paola R., Soprano, Paolo M., Heller, Paula G., Balduini, Alessandra, and Marta, Rosana F.

Subjects
IDIOPATHIC thrombocytopenic purpura, AUTOANTIBODIES, MEGAKARYOCYTES, BONE marrow, EXTRACELLULAR matrix proteins, BLOOD platelets
Abstract

The article discusses a study focusing on the role played by autoantibodies in immune thrombocytopenia (ITP). Topics discussed include the effect of autoantibodies on interaction between megakaryocytes and bone marrow extracellular matrix proteins; the importance of this interaction for the development of megakaryocytes; and the increase in platelet clearance by autoantibodies. Also mentioned is MK adhesion to type I collagen.

Published
2018
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49. Nonmuscle Myosin Heavy Chain IIA Mutation Predicts Severity and Progression of Sensorineural Hearing Loss in Patients With MYH9-Related Disease

Author

Verver, Eva J. J., primary, Topsakal, Vedat, additional, Kunst, Henricus P. M., additional, Huygen, Patrick L. M., additional, Heller, Paula G., additional, Pujol-Moix, Nuria, additional, Savoia, Anna, additional, Benazzo, Marco, additional, Fierro, Tiziana, additional, Grolman, Wilko, additional, Gresele, Paolo, additional, and Pecci, Alessandro, additional

Published
2016
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50. Long-term follow-up of essential thrombocythemia patients treated with anagrelide: subgroup analysis according toJAK2/CALR/MPLmutational status

Author

Mela Osorio, María J., primary, Ferrari, Luciana, additional, Goette, Nora P., additional, Gutierrez, Marina I., additional, Glembotsky, Ana C., additional, Maldonado, Ana C., additional, Lev, Paola R., additional, Alvarez, Clarisa, additional, Korin, Laura, additional, Marta, Rosana F., additional, Molinas, Felisa C., additional, and Heller, Paula G., additional

Published
2015
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