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
CONICET Digital (CONICET)
Institución
Consejo Nacional de Investigaciones Científicas y Técnicas
OAI Identificador
oai:ri.conicet.gov.ar:11336/107558
Acceder
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network_name_str CONICET Digital (CONICET)
spelling 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 Técnicas2025-11-12T09:45:05Zoai: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:34982025-11-12 09:45:05.784CONICET 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
reponame_str CONICET Digital (CONICET)
collection CONICET Digital (CONICET)
instname_str Consejo Nacional de Investigaciones Científicas y Técnicas
repository.name.fl_str_mv CONICET Digital (CONICET) - Consejo Nacional de Investigaciones Científicas y Técnicas
repository.mail.fl_str_mv dasensio@conicet.gov.ar; lcarlino@conicet.gov.ar
_version_ 1848597805484998656
score 12.976206

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