Zobrazeno 1 - 10
of 17
pro vyhledávání: '"Eliana Disabella"'
Autor:
Daniela Concolino, Maria Rapsomaniki, Eliana Disabella, Simona Sestito, Maria G Pascale, Maria T Moricca, Giuseppe Bonapace, Elisea Arbustini, Pietro Strisciuglio
Publikováno v:
Romanian Journal of Pediatrics, Vol 59, Iss 2, Pp 134-136 (2010)
Background: The co-existence of two genetically distinct metabolic disorders in the same patient has rarely been reported. Phenylketonuria (PKU) is an inborn error of the metabolism resulting from a phenylalanine hydroxylase defi ciency. Fabry dise
Externí odkaz:
https://doaj.org/article/3ca1c4b00425451e85664349e9c2e2f5
Autor:
Lorenzo Paolo Moramarco, Carlo Alberto Capodaglio, Eliana Disabella, Eloisa Arbustini, Ilaria Fiorina, Antonio Mauro D'agostino, Nicola Cionfoli, Pietro Quaretti, Mario Urtis
Publikováno v:
BJR | case reports
Among Ehlers-Danlos syndromes, the vascular type is the most severe because of its vascular complications. Transcatheter embolization of medium-sized arteries has become the first-line therapy for life-threatening hemorrhage. Ongoing multiple lesions
Autor:
Roberto Pizzoccheri, Lorenzo Giuliani, Alexandra Smirnova, Eloisa Arbustini, Mario Urtis, Eliana Disabella, Alessandro Di Toro, Flaminia Aliberti, Maurizia Grasso
Publikováno v:
Progress in Pediatric Cardiology. 62:101416
Background LVNC/LVHT is characterized by the presence of i) prominent left ventricular (LV) trabeculae; ii) a thin compacted layer; iii) deep inter-trabecular recesses. The in vivo diagnosis is exclusively based upon imaging (2D-TTE and CMR, CT when
Autor:
A Di Toro, Alessandra Repetto, Alessandra Serio, Mario Urtis, Adele Valentini, Francesco Prati, F Calliada, Lorenzo Giuliani, Eliana Disabella, Favalli, Andrea Pilotto, Maurizia Grasso, Eloisa Arbustini
Publikováno v:
European Heart Journal. 40
Introduction SCAD is a rare coronary event that may cause acute coronary syndromes (ACS). SCAD predominantly occurs in apparently healthy, young to middle aged women (up to 95% of cases). The known causes include: heritable connective tissue diseases
Autor:
Eliana Disabella, Catherine Klersy, A Di Toro, Alexandra Smirnova, Alessandra Serio, Luigi Tavazzi, Lorenzo Giuliani, Michele Pasotti, Eloisa Arbustini, Favalli, F.I. Gambarin, Maurizia Grasso
Publikováno v:
European Heart Journal. 40
Background Marfan Syndrome (MFS) is a rare multisystemic genetic disease caused by mutations in the Fibrillin 1 (FBN1) gene. Aortic root aneurysm, potentially evolving to dissection and rupture, is the most important clinical complication. Beta block
Autor:
Eliana Disabella, Veronica Codullo, Andrea Franconeri, Lorenzo Cavagna, Roberto Dore, Federica Meloni, Carlomaurizio Montecucco, Emiliano Marasco, Adele Valentini, Fabrizio Calliada, Giovanni Zanframundo
Publikováno v:
Respiratory medicine. 160
Interstitial Lung Disease (ILD) is a common finding of Systemic Sclerosis (SSc) mainly presenting in the form of Nonspecific Interstitial Pneumonia (NSIP) and deeply affecting patients' prognosis. Beside NSIP, other types of ILD have been reported. T
Autor:
Claudio Rapezzi, Eloisa Arbustini, Manuela Agozzino, Maurizio Melis, Filippo Mangione, Annarita Colucci, Alexandra Smirnova, Riccardo Borroni, Elena Biagini, M Molinaro, Jagat Narula, Maurizia Rasura, Valentina Favalli, Alessandra Serio, Nupoor Narula, Antonello Ganau, Daniela Concolino, Maria Teresa Di Mascio, Antonia Nucera, GianPietro Sechi, Clelia Caspani, Camilla Vassallo, Carlo Pellegrini, Eliana Disabella, Umberto Scoditti, Marilena Tagliani, Calogero Giordano, Pamela Cassini, Massimiliano Marini, Carmela Giorgianni, Elena Antoniazzi, Anna Scarabotto, Donata Guidetti, Takahide Kodama, Marina Diomedi, Michelangelo Mancuso, Danilo Toni, Marialuisa Zedde, Luigi Tavazzi, Maurizia Grasso, Laura Scelsi, Lorenzo Giuliani, Laura Fancellu, Stefania Piga, Monica Concardi, Stefano Ghio
Publikováno v:
Journal of the American College of Cardiology. 68:1037-1050
Anderson-Fabry disease (AFD) is a rare X-linked lysosomal storage disease, caused by defects of the alpha-galactosidase A (GLA) gene. AFD can affect the heart, brain, kidney, eye, skin, peripheral nerves, and gastrointestinal tract. Cardiology (hyper
Autor:
Michele Pasotti, Alessandra Serio, Nicola Marziliano, Fabiana Isabella Gambarin, Andrea Pilotto, Valentina Favalli, Eliana Disabella, Marta Diegoli, Maurizia Grasso, Catherine Klersy, Eloisa Arbustini, Emanuele Porcu, Luigi Tavazzi, Marilena Tagliani
Publikováno v:
Journal of Cardiovascular Medicine. 10:433-442
Whole gene expression analysis through microarray technologies revolutionized the manner of identifying changes in biological events and complex diseases, such as cardiovascular settings. These new methodologies may scan up to 35 000 transcripts at o
Autor:
Marta Diegoli, Emanuele Porcu, Eloisa Arbustini, Claudia Lucchelli, Antonio Pelliccia, Luca Lanzarini, Orazio Gabrielli, Clara Malattia, Marilena Tagliani, Maurizia Grasso, Silvia Ansaldi, Anna Ficcadenti, Eliana Disabella, Nicola Marziliano, Andrea Pilotto
Publikováno v:
European Journal of Human Genetics. 14:34-38
TGF-beta-receptor 2 (TGFBR2) gene defects have been recently associated with Marfan syndrome (MFS) with prominent cardio-skeletal phenotype in patients with negative fibrillin-1 (FBN1) gene screening. Four mutations have been identified to date in fi
Autor:
Eloisa Arbustini, Fabiana Isabella Gambarin, Manuela Agozzino, Alan G. Fraser, Alessandra Serio, Luigi Tavazzi, Maurizia Grasso, Eliana Disabella, B.M.E. Valentina Favalli, Marta Diegoli, Jagat Narula
Publikováno v:
The American journal of cardiology. 106(10)
Anderson-Fabry disease is a lysosomal storage disorder caused by α-galactosidase defects and progressive intracellular accumulation of globotriaosylceramide. The disease can be specifically treated with enzyme replacement therapy. Hemizygous men and