Search Results - "GRAZIADEI, GIOVANNA"

Intrabone hematopoietic stem cell gene therapy for adult and pediatric patients affected by transfusion-dependent ß-thalassemia by Marktel, Sarah, Scaramuzza, Samantha, Cicalese, Maria Pia, Giglio, Fabio, Galimberti, Stefania, Lidonnici, Maria Rosa, Calbi, Valeria, Assanelli, Andrea, Bernardo, Maria Ester, Rossi, Claudia, Calabria, Andrea, Milani, Raffaella, Gattillo, Salvatore, Benedicenti, Fabrizio, Spinozzi, Giulio, Aprile, Annamaria, Bergami, Alessandra, Casiraghi, Miriam, Consiglieri, Giulia, Masera, Nicoletta, D’Angelo, Emanuela, Mirra, Nadia, Origa, Raffaella, Tartaglione, Immacolata, Perrotta, Silverio, Winter, Robert, Coppola, Milena, Viarengo, Gianluca, Santoleri, Luca, Graziadei, Giovanna, Gabaldo, Michela, Valsecchi, Maria Grazia, Montini, Eugenio, Naldini, Luigi, Cappellini, Maria Domenica, Ciceri, Fabio, Aiuti, Alessandro, Ferrari, Giuliana

“…ß-thalassemia is caused by ß-globin gene mutations resulting in reduced (β + ) or absent (β 0 ) hemoglobin production. Patient life expectancy has recently…”
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Recommendations regarding splenectomy in hereditary hemolytic anemias by Iolascon, Achille, Andolfo, Immacolata, Barcellini, Wilma, Corcione, Francesco, Garçon, Loïc, De Franceschi, Lucia, Pignata, Claudio, Graziadei, Giovanna, Pospisilova, Dagmar, Rees, David C, de Montalembert, Mariane, Rivella, Stefano, Gambale, Antonella, Russo, Roberta, Ribeiro, Leticia, Vives-Corrons, Jules, Martinez, Patricia Aguilar, Kattamis, Antonis, Gulbis, Beatrice, Cappellini, Maria Domenica, Roberts, Irene, Tamary, Hannah

“…Hereditary hemolytic anemias are a group of disorders with a variety of causes, including red cell membrane defects, red blood cell enzyme disorders,…”
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Sotatercept, a novel transforming growth factor β ligand trap, improves anemia in β-thalassemia: a phase II, open-label, dose-finding study by Cappellini, Maria Domenica, Porter, John, Origa, Raffaella, Forni, Gian Luca, Voskaridou, Ersi, Galactéros, Frédéric, Taher, Ali T, Arlet, Jean-Benoît, Ribeil, Jean-Antoine, Garbowski, Maciej, Graziadei, Giovanna, Brouzes, Chantal, Semeraro, Michaela, Laadem, Abderrahmane, Miteva, Dimana, Zou, Jun, Sung, Victoria, Zinger, Tatiana, Attie, Kenneth M, Hermine, Olivier

“…β-thalassemia, a hereditary blood disorder caused by defective synthesis of hemoglobin β globin chains, leads to ineffective erythropoiesis and chronic anemia…”
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Elevated liver iron concentration is a marker of increased morbidity in patients with β thalassemia intermedia by MUSALLAM, Khaled M, CAPPELLINI, Maria Domenica, WOOD, John C, MOTTA, Irene, GRAZIADEI, Giovanna, TAMIM, Hani, TAHER, Ali T

“…Patients with β thalassemia intermedia can have substantial iron overload, irrespectively of their transfusion status, secondary to increased intestinal iron…”
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Epidemiological shift of glucose-6-phosphate dehydrogenase mutations in northern Italy in the last 15 years by Duca, Lorena, Nava, Isabella, Tavazzi, Dario, Marcon, Alessia, Motta, Irene, Graziadei, Giovanna

“…Glucose-6-phosphate dehydrogenase (G6PD) deficiency is an X-linked recessive hemolytic anemia caused by mutations in G6PD gene. The distribution and frequency…”
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Morbidity and mortality of sickle cell disease patients is unaffected by splenectomy: evidence from three decades of follow-up in a high-income setting by Pinto, Valeria Maria, Gianesin, Barbara, Piel, Frédéric B, Longo, Filomena, Rigano, Paolo, Quota, Alessandra, Spadola, Vincenzo, Graziadei, Giovanna, Mazzi, Filippo, Cappellini, Maria Domenica, Maggio, Aurelio, Piga, Antonio, De Franceschi, Lucia, Forni, Gian Luca

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Microcytosis in Erythropoietic Protoporphyria by Graziadei, Giovanna, Duca, Lorena, Granata, Francesca, De Luca, Giacomo, De Giovanni, Anna, Brancaleoni, Valentina, Nava, Isabella, Di Pierro, Elena

“…Partial deficiency of the last enzyme of the heme biosynthetic pathway, namely, ferrochelatase (FECH), is responsible for erythropoietic protoporphyria (EPP)…”
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Sickle cell maculopathy: Identification of systemic risk factors, and microstructural analysis of individual retinal layers of the macula by Dell'Arti, Laura, Barteselli, Giulio, Riva, Lorenzo, Carini, Elisa, Graziadei, Giovanna, Benatti, Eleonora, Invernizzi, Alessandro, Cappellini, Maria D, Viola, Francesco

“…To identify systemic risk factors for sickle cell maculopathy, and to analyze the microstructure of the macula of Sickle Cell Disease (SCD) patients by using…”
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Current challenges in the management of patients with sickle cell disease - A report of the Italian experience by Russo, Giovanna, De Franceschi, Lucia, Colombatti, Raffaella, Rigano, Paolo, Perrotta, Silverio, Voi, Vincenzo, Palazzi, Giovanni, Fidone, Carmelo, Quota, Alessandra, Graziadei, Giovanna, Pietrangelo, Antonello, Pinto, Valeria, Ruffo, Giovan Battista, Sorrentino, Francesco, Venturelli, Donatella, Casale, Maddalena, Ferrara, Francesca, Sainati, Laura, Cappellini, Maria Domenica, Piga, Antonio, Maggio, Aurelio, Forni, Gian Luca

“…Sickle cell disease (SCD) is an inherited red blood cell disorder caused by a structural abnormality of hemoglobin called sickle hemoglobin (HbS). Clinical…”
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Serum ferritin level and morbidity risk in transfusion-independent patients with β-thalassemia intermedia: the ORIENT study by Musallam, Khaled M, Cappellini, Maria Domenica, Daar, Shahina, Karimi, Mehran, El-Beshlawy, Amal, Graziadei, Giovanna, Magestro, Matthew, Wulff, Jerome, Pietri, Guilhem, Taher, Ali T

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Alternative Pathway Involvement in Protoporphyria Patients Related to Sun Exposure by Granata, Francesca, Duca, Lorena, Brancaleoni, Valentina, Fustinoni, Silvia, De Luca, Giacomo, Motta, Irene, Graziadei, Giovanna, Di Pierro, Elena

“…The homeostasis of tissues in a chronic disease is an essential function of the alternative pathway (AP) of the complement system (CS). However, if not…”
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Mitochondrial DNA Copy Number Drives the Penetrance of Acute Intermittent Porphyria by Di Pierro, Elena, Perrone, Miriana, Franco, Milena, Granata, Francesca, Duca, Lorena, Lattuada, Debora, De Luca, Giacomo, Graziadei, Giovanna

“…No published study has investigated the mitochondrial count in patients suffering from acute intermittent porphyria (AIP). In order to determine whether…”
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Tricuspid-valve regurgitant jet velocity as a risk factor for death in β-Thalassemia by Derchi, Giorgio, Musallam, Khaled M, Pinto, Valeria Maria, Graziadei, Giovanna, Giuditta, Marianna, Barella, Susanna, Origa, Raffaella, Casu, Gavino, Pasanisi, Annamaria, Longo, Filomena, Casale, Maddalena, Miceli, Roberta, Merella, Pierluigi, Gianesin, Barbara, Ameri, Pietro, Tartaglione, Immacolata, Perrotta, Silverio, Piga, Antonio, Cappellini, Maria Domenica, Forni, Gian Luca

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Heme Biosynthetic Gene Expression Analysis With dPCR in Erythropoietic Protoporphyria Patients by Granata, Francesca, Brancaleoni, Valentina, Barman-Aksözen, Jasmin, Scopetti, Margherita, De Luca, Giacomo, Fustinoni, Silvia, Motta, Irene, Di Pierro, Elena, Graziadei, Giovanna

“…Background: The heme biosynthesis (HB) involves eight subsequent enzymatic steps. Erythropoietic protoporphyria (EPP) is caused by loss-of-function mutations…”
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Thalassemic erythrocytes release microparticles loaded with hemichromes by redox activation of p72Syk kinase by Ferru, Emanuela, Pantaleo, Antonella, Carta, Franco, Mannu, Franca, Khadjavi, Amina, Gallo, Valentina, Ronzoni, Luisa, Graziadei, Giovanna, Cappellini, Maria Domenica, Turrini, Francesco

“…High counts of circulating microparticles, originated from the membrane of abnormal erythrocytes, have been associated with increased thrombotic risk in…”
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Management of chronic patients during the COVID-19 pandemic: the experience of a referral center for rare hematological disorders in the hardest-hit region in Italy by Motta, Irene, Marcon, Alessia, Carrabba, Maria Domenica, Cassinerio, Elena, Migone De Amicis, Margherita, Branchi, Adriana, Giuditta, Marianna, Maira, Diletta, Fabio, Giovanna, Graziadei, Giovanna, Baldini, Marina

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Associated Effect of SLC40A1 and TMPRSS6 Polymorphisms on Iron Overload by Duca, Lorena, Granata, Francesca, Di Pierro, Elena, Brancaleoni, Valentina, Graziadei, Giovanna, Nava, Isabella

“…Mutations in the ferroportin (FPN) gene SLC40A1 alter iron recycling and cause disturbances in iron homeostasis. The variants of TMPRSS6 contribute to the…”
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Psychological Aspect and Quality of Life in Porphyrias: A Review by Francesca, Granata, Nicolli, Annamaria, Colaiocco, Alessia, Di Pierro, Elena, Graziadei, Giovanna

“…The World Health Organization (WHO) describes "health" as a state of physical, mental, and social well-being and not merely the absence of disease or…”
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Liver damage and sickle cell disease: genotype relationship by Bortolotti, Marta, D’Ambrosio, Roberta, Fraquelli, Mirella, Pedrotti, Patrizia, Consonni, Dario, Migone De Amicis, Margherita, Scaramellini, Natalia, Di Pierro, Elena, Graziadei, Giovanna

“…Sickle hepatopathy is a severe and not rare complication of sickle cell disease (SCD), showing mainly a cholestatic pattern. So far, no effective approaches to…”
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Clinical and molecular epidemiology of erythropoietic protoporphyria in Italy by Ventura, Paolo, Brancaleoni, Valentina, Di Pierro, Elena, Graziadei, Giovanna, Macrì, Annelise, Carmine Guida, Claudio, Nicolli, Annamaria, Rossi, Maria Teresa, Granata, Francesca, Fiorentino, Valeria, Fustinoni, Silvia, Sala, Raffella, Pinton, Piergiacomo Calzavara, Trevisan, Andrea, Marchini, Stefano, Cuoghi, Chiara, Marcacci, Matteo, Corradini, Elena, Sorge, Fiammetta, Aurizi, Caterina, Savino, Maria Grazia, Cappellini, Maria Domenica, Pietrangelo, Antonello

“…Background Erythropoietic protoporphyria (EPP) is a rare inherited disease associated with heme metabolism, characterized by severe life-long photosensitivity…”
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