Unexplained recurrent venous thrombosis in a patient with MYH 9-related disease
- Autores
- Heller, Paula Graciela; Pecci, Alessandro; Glembotsky, Ana Claudia; Savoia, Anna; Negro, Fernando D.; Balduini, Carlo L; Molinas, Felisa Concepción
- Año de publicación
- 2006
- Idioma
- inglés
- Tipo de recurso
- artículo
- Estado
- versión publicada
- Descripción
- MYH9-related disease (MYH9-RD) comprises a spectrum of autosomal-dominant thrombocytopenias: May?Hegglin anomaly, Sebastian, Fechtner, and Epstein syndrome, all caused by mutations in MYH9, the gene for non-muscle myosin heavy chain IIA (NMMHC-IIA). Patients present since birth with macrothrombocytopenia and cytoplasmic aggregates of NMMHCIIA in granulocytes recognizable by specific antibodies. These aggregates are often evident on May?Grunwald?Giemsa (MGG)-stained blood films as Do hle-like inclusions. Patients with MYH9-RD also present the risk of developing during lifetime the additional clinical features of glomerulonephritis, hearing loss and/or cataracts. Here we report a patient with MYH9-RD who experienced idiopathic recurrent venous thromboembolism.
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: Pecci, Alessandro. Policlinico San Matteo; Italia. Universita Degli Studi Di Pavia; Italia. Istituto Nazionale di Ricovero e Cura a Carattere Scientifico "Saverio de Bellis"; 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: Savoia, Anna. Telethon Institute of Genetics and Medicine; Italia
Fil: Negro, Fernando D.. Atencion Pediatrica Integral; Argentina
Fil: Balduini, Carlo L. Policlinico San Matteo; Italia. Universita Degli Studi Di Pavia; Italia. Istituto Nazionale di Ricovero e Cura a Carattere Scientifico "Saverio de Bellis"; Italia
Fil: Molinas, Felisa Concepción. 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 - Materia
-
PLATELETS
THROMBOSIS
MYH9
MYOSIN - Nivel de accesibilidad
- acceso abierto
- Condiciones de uso
- https://creativecommons.org/licenses/by-nc-sa/2.5/ar/
- Repositorio
- Institución
- Consejo Nacional de Investigaciones Científicas y Técnicas
- OAI Identificador
- oai:ri.conicet.gov.ar:11336/107558
Ver los metadatos del registro completo
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Unexplained recurrent venous thrombosis in a patient with MYH 9-related diseaseHeller, Paula GracielaPecci, AlessandroGlembotsky, Ana ClaudiaSavoia, AnnaNegro, Fernando D.Balduini, Carlo LMolinas, Felisa ConcepciónPLATELETSTHROMBOSISMYH9MYOSINhttps://purl.org/becyt/ford/3.2https://purl.org/becyt/ford/3MYH9-related disease (MYH9-RD) comprises a spectrum of autosomal-dominant thrombocytopenias: May?Hegglin anomaly, Sebastian, Fechtner, and Epstein syndrome, all caused by mutations in MYH9, the gene for non-muscle myosin heavy chain IIA (NMMHC-IIA). Patients present since birth with macrothrombocytopenia and cytoplasmic aggregates of NMMHCIIA in granulocytes recognizable by specific antibodies. These aggregates are often evident on May?Grunwald?Giemsa (MGG)-stained blood films as Do hle-like inclusions. Patients with MYH9-RD also present the risk of developing during lifetime the additional clinical features of glomerulonephritis, hearing loss and/or cataracts. Here we report a patient with MYH9-RD who experienced idiopathic recurrent venous thromboembolism.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; ArgentinaFil: Pecci, Alessandro. Policlinico San Matteo; Italia. Universita Degli Studi Di Pavia; Italia. Istituto Nazionale di Ricovero e Cura a Carattere Scientifico "Saverio de Bellis"; ItaliaFil: 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; ArgentinaFil: Savoia, Anna. Telethon Institute of Genetics and Medicine; ItaliaFil: Negro, Fernando D.. Atencion Pediatrica Integral; ArgentinaFil: Balduini, Carlo L. Policlinico San Matteo; Italia. Universita Degli Studi Di Pavia; Italia. Istituto Nazionale di Ricovero e Cura a Carattere Scientifico "Saverio de Bellis"; ItaliaFil: Molinas, Felisa Concepción. 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; ArgentinaTaylor & Francis2006-12info:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersionhttp://purl.org/coar/resource_type/c_6501info:ar-repo/semantics/articuloapplication/pdfapplication/pdfapplication/pdfapplication/pdfhttp://hdl.handle.net/11336/107558Heller, Paula Graciela; Pecci, Alessandro; Glembotsky, Ana Claudia; Savoia, Anna; Negro, Fernando D.; et al.; Unexplained recurrent venous thrombosis in a patient with MYH 9-related disease; Taylor & Francis; Platelets; 17; 4; 12-2006; 274-2750953-7104CONICET DigitalCONICETenginfo:eu-repo/semantics/altIdentifier/url/https://www.tandfonline.com/doi/full/10.1080/17476930500467235info:eu-repo/semantics/altIdentifier/doi/10.1080/17476930500467235info:eu-repo/semantics/openAccesshttps://creativecommons.org/licenses/by-nc-sa/2.5/ar/reponame:CONICET Digital (CONICET)instname:Consejo Nacional de Investigaciones Científicas y Técnicas2025-09-29T09:59:43Zoai:ri.conicet.gov.ar:11336/107558instacron:CONICETInstitucionalhttp://ri.conicet.gov.ar/Organismo científico-tecnológicoNo correspondehttp://ri.conicet.gov.ar/oai/requestdasensio@conicet.gov.ar; lcarlino@conicet.gov.arArgentinaNo correspondeNo correspondeNo correspondeopendoar:34982025-09-29 09:59:43.514CONICET Digital (CONICET) - Consejo Nacional de Investigaciones Científicas y Técnicasfalse |
dc.title.none.fl_str_mv |
Unexplained recurrent venous thrombosis in a patient with MYH 9-related disease |
title |
Unexplained recurrent venous thrombosis in a patient with MYH 9-related disease |
spellingShingle |
Unexplained recurrent venous thrombosis in a patient with MYH 9-related disease Heller, Paula Graciela PLATELETS THROMBOSIS MYH9 MYOSIN |
title_short |
Unexplained recurrent venous thrombosis in a patient with MYH 9-related disease |
title_full |
Unexplained recurrent venous thrombosis in a patient with MYH 9-related disease |
title_fullStr |
Unexplained recurrent venous thrombosis in a patient with MYH 9-related disease |
title_full_unstemmed |
Unexplained recurrent venous thrombosis in a patient with MYH 9-related disease |
title_sort |
Unexplained recurrent venous thrombosis in a patient with MYH 9-related disease |
dc.creator.none.fl_str_mv |
Heller, Paula Graciela Pecci, Alessandro Glembotsky, Ana Claudia Savoia, Anna Negro, Fernando D. Balduini, Carlo L Molinas, Felisa Concepción |
author |
Heller, Paula Graciela |
author_facet |
Heller, Paula Graciela Pecci, Alessandro Glembotsky, Ana Claudia Savoia, Anna Negro, Fernando D. Balduini, Carlo L Molinas, Felisa Concepción |
author_role |
author |
author2 |
Pecci, Alessandro Glembotsky, Ana Claudia Savoia, Anna Negro, Fernando D. Balduini, Carlo L Molinas, Felisa Concepción |
author2_role |
author author author author author author |
dc.subject.none.fl_str_mv |
PLATELETS THROMBOSIS MYH9 MYOSIN |
topic |
PLATELETS THROMBOSIS MYH9 MYOSIN |
purl_subject.fl_str_mv |
https://purl.org/becyt/ford/3.2 https://purl.org/becyt/ford/3 |
dc.description.none.fl_txt_mv |
MYH9-related disease (MYH9-RD) comprises a spectrum of autosomal-dominant thrombocytopenias: May?Hegglin anomaly, Sebastian, Fechtner, and Epstein syndrome, all caused by mutations in MYH9, the gene for non-muscle myosin heavy chain IIA (NMMHC-IIA). Patients present since birth with macrothrombocytopenia and cytoplasmic aggregates of NMMHCIIA in granulocytes recognizable by specific antibodies. These aggregates are often evident on May?Grunwald?Giemsa (MGG)-stained blood films as Do hle-like inclusions. Patients with MYH9-RD also present the risk of developing during lifetime the additional clinical features of glomerulonephritis, hearing loss and/or cataracts. Here we report a patient with MYH9-RD who experienced idiopathic recurrent venous thromboembolism. 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: Pecci, Alessandro. Policlinico San Matteo; Italia. Universita Degli Studi Di Pavia; Italia. Istituto Nazionale di Ricovero e Cura a Carattere Scientifico "Saverio de Bellis"; 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: Savoia, Anna. Telethon Institute of Genetics and Medicine; Italia Fil: Negro, Fernando D.. Atencion Pediatrica Integral; Argentina Fil: Balduini, Carlo L. Policlinico San Matteo; Italia. Universita Degli Studi Di Pavia; Italia. Istituto Nazionale di Ricovero e Cura a Carattere Scientifico "Saverio de Bellis"; Italia Fil: Molinas, Felisa Concepción. 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 |
description |
MYH9-related disease (MYH9-RD) comprises a spectrum of autosomal-dominant thrombocytopenias: May?Hegglin anomaly, Sebastian, Fechtner, and Epstein syndrome, all caused by mutations in MYH9, the gene for non-muscle myosin heavy chain IIA (NMMHC-IIA). Patients present since birth with macrothrombocytopenia and cytoplasmic aggregates of NMMHCIIA in granulocytes recognizable by specific antibodies. These aggregates are often evident on May?Grunwald?Giemsa (MGG)-stained blood films as Do hle-like inclusions. Patients with MYH9-RD also present the risk of developing during lifetime the additional clinical features of glomerulonephritis, hearing loss and/or cataracts. Here we report a patient with MYH9-RD who experienced idiopathic recurrent venous thromboembolism. |
publishDate |
2006 |
dc.date.none.fl_str_mv |
2006-12 |
dc.type.none.fl_str_mv |
info:eu-repo/semantics/article info:eu-repo/semantics/publishedVersion http://purl.org/coar/resource_type/c_6501 info:ar-repo/semantics/articulo |
format |
article |
status_str |
publishedVersion |
dc.identifier.none.fl_str_mv |
http://hdl.handle.net/11336/107558 Heller, Paula Graciela; Pecci, Alessandro; Glembotsky, Ana Claudia; Savoia, Anna; Negro, Fernando D.; et al.; Unexplained recurrent venous thrombosis in a patient with MYH 9-related disease; Taylor & Francis; Platelets; 17; 4; 12-2006; 274-275 0953-7104 CONICET Digital CONICET |
url |
http://hdl.handle.net/11336/107558 |
identifier_str_mv |
Heller, Paula Graciela; Pecci, Alessandro; Glembotsky, Ana Claudia; Savoia, Anna; Negro, Fernando D.; et al.; Unexplained recurrent venous thrombosis in a patient with MYH 9-related disease; Taylor & Francis; Platelets; 17; 4; 12-2006; 274-275 0953-7104 CONICET Digital CONICET |
dc.language.none.fl_str_mv |
eng |
language |
eng |
dc.relation.none.fl_str_mv |
info:eu-repo/semantics/altIdentifier/url/https://www.tandfonline.com/doi/full/10.1080/17476930500467235 info:eu-repo/semantics/altIdentifier/doi/10.1080/17476930500467235 |
dc.rights.none.fl_str_mv |
info:eu-repo/semantics/openAccess https://creativecommons.org/licenses/by-nc-sa/2.5/ar/ |
eu_rights_str_mv |
openAccess |
rights_invalid_str_mv |
https://creativecommons.org/licenses/by-nc-sa/2.5/ar/ |
dc.format.none.fl_str_mv |
application/pdf application/pdf application/pdf application/pdf |
dc.publisher.none.fl_str_mv |
Taylor & Francis |
publisher.none.fl_str_mv |
Taylor & Francis |
dc.source.none.fl_str_mv |
reponame:CONICET Digital (CONICET) instname:Consejo Nacional de Investigaciones Científicas y Técnicas |
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CONICET Digital (CONICET) |
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CONICET Digital (CONICET) |
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Consejo Nacional de Investigaciones Científicas y Técnicas |
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CONICET Digital (CONICET) - Consejo Nacional de Investigaciones Científicas y Técnicas |
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dasensio@conicet.gov.ar; lcarlino@conicet.gov.ar |
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13.070432 |