Výsledky vyhledávání - "Gavino Piseddu"

Congenital afibrinogenemia: mutations leading to premature termination codons in fibrinogen Aα-chain gene are not associated with the decay of the mutant mRNAs

Autor: Rosanna Asselta, Elena Santagostino, Maria Luisa Tenchini, Massimo Malcovati, S Spena, Pier Mannuccio Mannucci, Stefano Duga, Flora Peyvandi, Roberto Targhetta, Gavino Piseddu

Publikováno v: Blood. 98:3685-3692

Congenital afibrinogenemia is a rare coagulation disorder with autosomal recessive inheritance, characterized by the complete absence or extremely reduced levels of fibrinogen in patients' plasma and platelets. Eight afibrinogenemic probands, with ve

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::64847520df404e824beaf3afc9518404
https://doi.org/10.1182/blood.v98.13.3685

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Identification of a novel and recurrent mutation in the SERPING1 gene in patients with hereditary angioedema

Autor: Carmela Zizzo, Stefano Del Giacco, Maria Pina Barca, Luisa Fenu, Paolo Colomba, Giovanni Duro, Davide Firinu, Paolo Emilio Manconi, Gavino Piseddu

Publikováno v: Clinical immunology (Orlando, Fla.). 147(2)

Hereditary angioedema (HAE) due to C1 inhibitor (C1-INH) deficiency is an autosomal dominant disorder caused by mutations in SERPING1 gene. More than 200 different mutations are known, with high genetic heterogeneity and high frequency of private fam

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1584af8bd9966431c506f39687118240
https://pubmed.ncbi.nlm.nih.gov/23583915

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Prophylaxis of venous thromboembolism in bariatric surgery

Autor: Maria Laura, Cossu, Luca, Pilo, Gavino, Piseddu, Pier Luigi, Tilocca, Franca, Cossu, Giuseppe, Noya

Publikováno v: Chirurgia italiana. 59(3)

Patients with morbid obesity who undergo bariatric surgery are usually considered at high risk of developing venous thromboembolism. Considering that deep vein thrombosis is often asymptomatic, primary prevention is the key to reducing morbidity and

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::e8678aa92bc6f9626a3564a48bbbeb2b
https://pubmed.ncbi.nlm.nih.gov/17663372

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Acquired hemophilia in a patient affected by acute myeloid leukemia

Autor: Fausto Dore, Alberto Porcu, Maurizio Roberto Longinotti, Claudio Fozza, Gavino Piseddu, Saverio Bellizzi

Publikováno v: American Journal of Hematology. 79:81-82

Acquired hemophilia (AH) is an unusual hemorrhagic syndrome characterized by the occurrence of inhibitors of factor VIII (FVIII) in nonhemophilic patients. It has been found in normal subjects and in patients suffering from autoimmune diseases, cance

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::7078d349362d81d85926343168745245
https://doi.org/10.1002/ajh.20323

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Pharmacokinetic Evaluation of a Fibrinogen Concentrate in Patients with Congenital Fibrinogen Deficiency

Autor: Marilyn J. Manco-Johnson, Pier Mannuccio Mannucci, Giancarlo Castaman, Sigurd Knaub, Sandra Fremann, Gavino Piseddu

Publikováno v: Blood. 112:2268-2268

BACKGROUND: Congenital fibrinogen deficiency is a rare bleeding disorder and comprises fibrinogen abnormalities that result in either reductions in the quantity (hypofibrinogenemia and afibrinogenemia) or structure and functionality (dysfibrinogenemi

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::5945cc550f95f4929ed523696d7607ff
https://doi.org/10.1182/blood.v112.11.2268.2268

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