Paula G. Heller
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View article: Acquired Bernard-Soulier syndrome as the presenting feature of GATA2-related myeloid neoplasm in an adolescent: an insight into the mechanisms underlying the platelet defect
Acquired Bernard-Soulier syndrome as the presenting feature of GATA2-related myeloid neoplasm in an adolescent: an insight into the mechanisms underlying the platelet defect Open
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View article: Two novel families with <i>RUNX1</i> variants indicate glycine 168 as a new mutational hotspot: Implications for FPD/AML diagnosis
Two novel families with <i>RUNX1</i> variants indicate glycine 168 as a new mutational hotspot: Implications for FPD/AML diagnosis Open
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 va…
View article: Elevated levels of damage-associated molecular patterns HMGB1 and S100A8/A9 coupled with toll-like receptor-triggered monocyte activation are associated with inflammation in patients with myelofibrosis
Elevated levels of damage-associated molecular patterns HMGB1 and S100A8/A9 coupled with toll-like receptor-triggered monocyte activation are associated with inflammation in patients with myelofibrosis Open
Inflammation plays a pivotal role in the pathogenesis of primary and post-essential thrombocythemia or post-polycythemia vera myelofibrosis (MF) in close cooperation with the underlying molecular drivers. This inflammatory state is induced…
View article: Toll-like receptor expression and functional behavior in platelets from patients with systemic lupus erythematosus
Toll-like receptor expression and functional behavior in platelets from patients with systemic lupus erythematosus Open
Our study demonstrates normal platelet TLR expression and function together with increased circulating platelet-monocyte aggregates. In addition, a direct correlation was observed between plasma HMGB1 levels and platelet vWf release follow…
View article: High cell-free DNA is associated with disease progression, inflammasome activation and elevated levels of inflammasome-related cytokine IL-18 in patients with myelofibrosis
High cell-free DNA is associated with disease progression, inflammasome activation and elevated levels of inflammasome-related cytokine IL-18 in patients with myelofibrosis Open
Myelofibrosis (MF) is a clonal hematopoietic stem cell disorder classified among chronic myeloproliferative neoplasms, characterized by exacerbated myeloid and megakaryocytic proliferation and bone marrow fibrosis. It is induced by driver …
View article: PB0375 Changes in Platelet Size Induced by Treatment in Patients with Myeloproliferative Neoplasms. Cytoskeletal Study during Platelet Production
PB0375 Changes in Platelet Size Induced by Treatment in Patients with Myeloproliferative Neoplasms. Cytoskeletal Study during Platelet Production Open
View article: PB0373 Increased Megakaryopoiesis and Thrombopoiesis Induced by Plasma from Myelofibrosis and Essential Thrombocythemia Patients
PB0373 Increased Megakaryopoiesis and Thrombopoiesis Induced by Plasma from Myelofibrosis and Essential Thrombocythemia Patients Open
Conclusion(s):We determined that the luminal α-granule compartment is acidic with a median pH of 5.1, which likely facilitates stable packaging of VWF and other cargo proteins.The acidic environment is maintained by V-ATPase activity.
View article: PB0356 Results of Local Implementation of Next Generation Sequencing (NGS) for Diagnosis of Inherited Thrombocytopenias (IT) in Argentina
PB0356 Results of Local Implementation of Next Generation Sequencing (NGS) for Diagnosis of Inherited Thrombocytopenias (IT) in Argentina Open
View article: PB1425 High Cell-free (cf)DNA in Patients with Myelofibrosis (MF) is Associated with Adverse Clinical Outcomes, Activation of the AIM2 Inflammasome and Elevated Levels of Inflammasome-Related Cytokine IL-18
PB1425 High Cell-free (cf)DNA in Patients with Myelofibrosis (MF) is Associated with Adverse Clinical Outcomes, Activation of the AIM2 Inflammasome and Elevated Levels of Inflammasome-Related Cytokine IL-18 Open
View article: Dra. Felisa Molinas
Dra. Felisa Molinas Open
El 3 de junio de 2023 nos encontró recibiendo latriste noticia del fallecimiento de la Dra. Felisa Molinas, uno de los pilares del Instituto de Investigaciones Médicas Alfredo Lanari. Felisa se formó como médica en la Universidad de Buenos…
View article: A Deep Dive into the Pathology of Gray Platelet Syndrome: New Insights on Immune Dysregulation
A Deep Dive into the Pathology of Gray Platelet Syndrome: New Insights on Immune Dysregulation Open
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…
View article: The ISTH bleeding assessment tool as predictor of bleeding events in inherited platelet disorders: Communication from the ISTH SSC Subcommittee on Platelet Physiology
The ISTH bleeding assessment tool as predictor of bleeding events in inherited platelet disorders: Communication from the ISTH SSC Subcommittee on Platelet Physiology Open
View article: Specifications of the variant curation guidelines for <i>ITGA2B</i>/<i>ITGB3</i>: ClinGen Platelet Disorder Variant Curation Panel
Specifications of the variant curation guidelines for <i>ITGA2B</i>/<i>ITGB3</i>: ClinGen Platelet Disorder Variant Curation Panel Open
Accurate and consistent sequence variant interpretation is critical to the correct diagnosis and appropriate clinical management and counseling of patients with inherited genetic disorders. To minimize discrepancies in variant curation and…
View article: Feno-genotipificación de desórdenes plaquetarios hereditarios: nuestra experiencia en 50 familias
Feno-genotipificación de desórdenes plaquetarios hereditarios: nuestra experiencia en 50 familias Open
Dada la heterogeneidad de las entidades comprendi- das en las trombocitopenias hereditarias y la escasez de marcadores distintivos, su diagnóstico constituye un verdadero desafío. El abordaje clásico se basa en la caracterización fenotípic…
View article: First description of revertant mosaicism in familial platelet disorder with predisposition to acute myelogenous leukemia: correlation with the clinical phenotype
First description of revertant mosaicism in familial platelet disorder with predisposition to acute myelogenous leukemia: correlation with the clinical phenotype Open
Familial platelet disorder with predisposition to acute myelogenous leukemia (FPD/AML) is an autosomal dominant condition characterized by abnormal platelet number and function and 30-60% risk of hematologic malignancies, including myelody…
View article: Platelet Toll-Like Receptors Mediate Thromboinflammatory Responses in Patients With Essential Thrombocythemia
Platelet Toll-Like Receptors Mediate Thromboinflammatory Responses in Patients With Essential Thrombocythemia Open
Essential thrombocythemia (ET) is comprised among chronic myeloproliferative neoplasms (MPN) and is caused by driver mutations in JAK2, CALR, and MPL, which lead to megakaryocyte proliferation and prominent thrombocyto…
View article: Publisher Correction: Multiple concomitant mechanisms contribute to low platelet count in patients with immune thrombocytopenia
Publisher Correction: Multiple concomitant mechanisms contribute to low platelet count in patients with immune thrombocytopenia Open
View article: Ileítis como presentación de linfoma en síndrome de Wiskott-Aldrich
Ileítis como presentación de linfoma en síndrome de Wiskott-Aldrich Open
El síndrome de Wiskott-Aldrich (SWA) es un raro síndrome de inmunodeficiencia primaria ligado al cromosoma X que se asocia con aumento de incidencia de infecciones, trastornos autoinmunes y neoplasias. Se presenta el caso de un varón de 41…
View article: Validation of the ISTH/SSC bleeding assessment tool for inherited platelet disorders: A communication from the Platelet Physiology SSC
Validation of the ISTH/SSC bleeding assessment tool for inherited platelet disorders: A communication from the Platelet Physiology SSC Open
View article: Antithrombotic prophylaxis for surgery-associated venous thromboembolism risk in patients with inherited platelet disorders. The SPATA-DVT Study
Antithrombotic prophylaxis for surgery-associated venous thromboembolism risk in patients with inherited platelet disorders. The SPATA-DVT Study Open
Major surgery is associated with an increased risk of venous thromboembolism (VTE), thus the application of mechanical or pharmacologic prophylaxis is recommended. The incidence of VTE in patients with inherited platelet disorders (IPD) un…
View article: Activation of toll‐like receptors 2 and 4 on CD34+ cells increases human megakaryo/thrombopoiesis induced by thrombopoietin
Activation of toll‐like receptors 2 and 4 on CD34+ cells increases human megakaryo/thrombopoiesis induced by thrombopoietin Open
View article: Platelets as Mediators of Thromboinflammation in Chronic Myeloproliferative Neoplasms
Platelets as Mediators of Thromboinflammation in Chronic Myeloproliferative Neoplasms Open
Chronic myeloproliferative neoplasms (MPN) are stem cell disorders driven by mutations in JAK2, CALR, or MPL genes and characterized by myeloid proliferation and increased blood cell counts. They encompass three closely relat…
View article: Multiple concomitant mechanisms contribute to low platelet count in patients with immune thrombocytopenia
Multiple concomitant mechanisms contribute to low platelet count in patients with immune thrombocytopenia Open
View article: 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
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 Open
Germline RUNX1 mutations lead to thrombocytopenia and platelet dysfunction in familial platelet disorder with predisposition to acute myelogenous leukemia (AML). Multiple aspects of platelet function are impaired in these patients, …
View article: Autoantibodies in immune thrombocytopenia affect the physiological interaction between megakaryocytes and bone marrow extracellular matrix proteins
Autoantibodies in immune thrombocytopenia affect the physiological interaction between megakaryocytes and bone marrow extracellular matrix proteins Open
Immune thrombocytopenia (ITP) is characterized by its heterogeneity among patients with regard to both clinical features and response to treatment. Although there is still much to investigate, this heterogeneity could be the reflection of …
View article: Bleeding risk of surgery and its prevention in patients with inherited platelet disorders
Bleeding risk of surgery and its prevention in patients with inherited platelet disorders Open
Excessive bleeding at surgery is a feared complication in patients with inherited platelet disorders. However, very few studies have evaluated the frequency of surgical bleeding in these hemorrhagic disorders. We performed a worldwide, mul…
View article: Mutations of <i>RUNX1</i> in families with inherited thrombocytopenia
Mutations of <i>RUNX1</i> in families with inherited thrombocytopenia Open
Familial platelet disorder with propensity to myeloid malignancy (FPD/AML) is a rare autosomal dominant form of thrombocytopenia associated with an increased risk of myelodysplastic syndrome and acute myeloid leukemia (AML) caused by germl…
View article: Neutrophil extracellular trap formation and circulating nucleosomes in patients with chronic myeloproliferative neoplasms
Neutrophil extracellular trap formation and circulating nucleosomes in patients with chronic myeloproliferative neoplasms Open
View article: Gray platelet syndrome: Novel mutations of the NBEAL2 gene
Gray platelet syndrome: Novel mutations of the NBEAL2 gene Open
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 unre…
View article: Platelet Apoptosis in Adult Immune Thrombocytopenia: Insights into the Mechanism of Damage Triggered by Auto-Antibodies
Platelet Apoptosis in Adult Immune Thrombocytopenia: Insights into the Mechanism of Damage Triggered by Auto-Antibodies Open
Mechanisms leading to decreased platelet count in immune thrombocytopenia (ITP) are heterogeneous. This study describes increased platelet apoptosis involving loss of mitochondrial membrane potential (ΔΨm), caspase 3 activation (aCasp3) an…