A5052723607- Platelet Disorders and Treatments
- Myeloproliferative Neoplasms: Diagnosis and Treatment
- Acute Myeloid Leukemia Research
- Chronic Myeloid Leukemia Treatments
- Blood groups and transfusion
- Eosinophilic Disorders and Syndromes
- Blood disorders and treatments
- Blood properties and coagulation
- Hemoglobinopathies and Related Disorders
- Cell Adhesion Molecules Research
- Blood Coagulation and Thrombosis Mechanisms
- Chronic Lymphocytic Leukemia Research
- Coagulation, Bradykinin, Polyphosphates, and Angioedema
- Antiplatelet Therapy and Cardiovascular Diseases
- Multiple Myeloma Research and Treatments
- Kruppel-like factors research
- Erythrocyte Function and Pathophysiology
- Systemic Lupus Erythematosus Research
- Diabetes Treatment and Management
- Neutrophil, Myeloperoxidase and Oxidative Mechanisms
- Cancer-related gene regulation
- Congenital heart defects research
- Epigenetics and DNA Methylation
- Caveolin-1 and cellular processes
- Maternal and fetal healthcare
Institute for Medical Research
2014-2024
University of Buenos Aires
2015-2024
Consejo Nacional de Investigaciones Científicas y Técnicas
2015-2024
Thrombosis and Atherosclerosis Research Institute
2023
McMaster University
2023
Instituto de Diagnóstico e Investigaciones Metabólicas
2006-2011
University of Washington
2005
Bloodworks Northwest
2005
Inserm
1997
University of Illinois Chicago
1964
MYH9-related disease (MYH9-RD) is a rare autosomal-dominant disorder caused by mutations in MYH9, the gene for heavy chain of nonmuscle myosin IIA (NMMHC-IIA). All patients present from birth with macrothrombocytopenia, but infancy or adult life, some them develop sensorineural deafness, presenile cataracts, and/or progressive nephritis leading to end-stage renal failure. No consistent correlations have been identified between 27 different MYH9 so far and variable clinical evolution disease....
MYH9-related disease (MYH9-RD) is a rare autosomal-dominant disorder caused by mutations in the gene for nonmuscle myosin heavy chain IIA (NMMHC-IIA). MYH9-RD characterized considerable variability clinical evolution: patients present at birth with only thrombocytopenia, but some of them subsequently develop sensorineural deafness, cataract, and/or nephropathy often leading to end-stage renal (ESRD). We searched genotype-phenotype correlations largest series consecutive collected so far (255...
Excessive bleeding at surgery is a feared complication in patients with inherited platelet disorders. However, very few studies have evaluated the frequency of surgical these hemorrhagic We performed worldwide, multicentric, retrospective study to assess complications surgery, preventive and therapeutic approaches adopted, their efficacy disorders: Surgery Platelet disorders And Therapeutic Approach (SPATA) study. rated outcome 829 procedures carried out 423 well-defined forms 238 function...
Summary MYH9-related disease (MYH9-RD) is an autosomal dominant thrombocytopenia with giant platelets variably associated young-adult onset of progressive sensorineural hearing loss, presenile cataract, and renal damage. MYH9-RD caused by mutations MYH9, the gene encoding for non-muscle heavy-chain myosin-9. Wild-type mutant myosin-9 aggregate as cytoplasmic inclusions in patients’ leukocytes, identification which immunofluorescence has been proposed a suitable tool diagnosis MYH9-RD. Since...
Pregnancy in women with inherited thrombocytopenias is a major matter of concern as both the mothers and newborns are potentially at risk bleeding. However, medical management this condition cannot be based on evidence because lack consistent information literature. To advance knowledge matter, we performed multicentric, retrospective study evaluating 339 pregnancies 181 13 different forms thrombocytopenia. Neither degree thrombocytopenia nor severity bleeding tendency worsened during...
Abstract The mechanisms underlying increased thrombotic risk in chronic myeloproliferative neoplasms (MPN) are incompletely understood. We assessed whether neutrophil extracellular traps (NETs), which promote thrombosis, contribute to the procoagulant state essential thrombocythemia, polycythemia vera and myelofibrosis (MF) patients. Although MPN neutrophils showed basal reactive oxygen species (ROS), enhanced NETosis by unstimulated was an infrequent finding, whereas PMA-triggered impaired,...
Mechanisms leading to decreased platelet count in immune thrombocytopenia (ITP) are heterogeneous. This study describes increased apoptosis involving loss of mitochondrial membrane potential (ΔΨm), caspase 3 activation (aCasp3) and phosphatidylserine (PS) externalization a cohort adult ITP patients. Apoptosis was not related activation, as PAC-1 binding, P-selectin exposure GPIb-IX internalization were increased. Besides, platelets more sensitive apoptotic stimulus terms aCasp3. Incubation...
Essential thrombocythemia (ET) is comprised among chronic myeloproliferative neoplasms (MPN) and caused by driver mutations in JAK2, CALR MPL, which lead to megakaryocyte proliferation prominent thrombocytosis. Thrombosis remains the main cause of morbidity ET driven interplay between blood cells, endothelium, clotting cascade host-derived inflammatory mediators. Platelet activation plays a key role thrombotic predisposition, although underlying mechanisms remain poorly defined. In addition...
Abstract Mechanisms leading to low platelet count in immune thrombocytopenia (ITP) involves both decreased production and increased destruction of platelet. However, the contribution these pathologic mechanisms clinical outcome individual patients is uncertain. Here we evaluated different pathogenic including vitro megakaryopoiesis, platelet/megakaryocyte (MK) desialylation MK apoptosis, compared effects with thrombopoyesis apoptosis same cohort ITP patients. Normal umbilical cord...
The gray platelet syndrome is a rare inherited bleeding disorder characterized by macrothrombocytopenia and deficiency of alpha (α)-granules in platelets. genetic defect responsible for was recently identified biallelic mutations the NBEAL2 gene. We studied 11 consecutive families with unknown origin α-granule deficiency. All them underwent DNA sequencing evaluation phenotype, including systematic assessment content immunofluorescence analysis secretory proteins. 9 novel hitting two alleles...
Summary The pathophysiological mechanisms contributing to the decreased platelet count in immune thrombocytopenia ( ITP ) are not entirely understood. Here, we investigated key step of proplatelet formation PPF by studying effect plasma thrombopoiesis. Normal cord blood‐derived mature megakaryocytes were cultured presence recalcified from patients, and was evaluated microscopic analysis. Patient samples induced a dose‐dependent inhibition , as well complexity architecture. Although slightly...