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11 results on '"Balderacchi, Alice M."'

1. Improving the diagnosis of AATD with aid of serum protein electrophoresis: a prospective, multicentre, validation study

Author

Scarlata, Simone, primary, Ottaviani, Stefania, additional, Villa, Alfredo, additional, Baglioni, Stefano, additional, Basile, Filomena, additional, Annunziata, Anna, additional, Santangelo, Simona, additional, Francesconi, Maria, additional, Arcoleo, Francesco, additional, Balderacchi, Alice M., additional, Angeletti, Silvia, additional, Magni, Sara, additional, Corsico, Angelo G., additional, and Ferrarotti, Ilaria, additional

Published
2024
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2. Quantification of circulating alpha-1-antitrypsin polymers associated with different <italic>SERPINA1</italic> genotypes.

Author

Balderacchi, Alice M., Bignotti, Mattia, Ottaviani, Stefania, Denardo, Andrea, Barzon, Valentina, Ben Khlifa, Emna, Vailati, Guido, Piloni, Davide, Benini, Federica, Corda, Luciano, Corsico, Angelo G., Ferrarotti, Ilaria, and Fra, Annamaria

Abstract

Alpha-1-antitrypsin deficiency is a genetic disorder caused by mutations in the SERPINA1 gene encoding alpha-1-antitrypsin (AAT), the major serine protease inhibitor in plasma. Reduced AAT levels are associated with elevated risk of developing emphysema mainly due to uncontrolled activity of neutrophil elastase in the lungs. The prevalent Z-AAT mutant and many rare pathogenic AAT variants also predispose to liver disease due to their accumulation as polymeric chains in hepatocytes. Part of these polymers are secreted into the bloodstream and could represent biomarkers of intra-hepatic accumulation. Moreover, being inactive, they further lower lung protection against proteases. Aim of our study is to accurately quantify the percentage of circulating polymers (CP) in a cohort of subjects with different SERPINA1 genotypes.CP concentration was measured in plasma or Dried Blood Spot (DBS) by a sensitive sandwich ELISA based on capture by the polymer-specific 2C1 monoclonal antibody.CP were significantly elevated in patients with the prevalent PI*SZ and PI*ZZ genotypes, with considerable intra-genotype variability. Notably, higher percentage of polymers was observed in association with elevated C-reactive protein. CP levels were also increased in carriers of the Mmalton variant, and of Mprocida, I, Plowell and Mherleen in heterozygosity with Z-AAT.These findings highlight the importance of implementing CP quantification in a clinical laboratory. Indeed, the variable amount of CP in patients with the same genotype may correlate with the variable severity of the associated lung and liver diseases. Moreover, CP can reveal the polymerogenic potential of newly discovered ultrarare AAT variants. [ABSTRACT FROM AUTHOR]

Published
2024
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3. Comparison among populations with severe and intermediate alpha1-antitrypsin deficiency and chronic obstructive pulmonary disease.

Author

PILONI, Davide, OTTAVIANI, Stefania, SADERI, Laura, CORDA, Luciano, BADERNA, Paolo, BARZON, Valentina, BALDERACCHI, Alice M., SEEBACHER, Christine, BALBI, Bruno, ALBICINI, Federica, CORINO, Alessandra, MENNITTI, Maria C., TIRELLI, Claudio, SPREAFICO, Fabio, BOSIO, Matteo, MARIANI, Francesca, SOTGIU, Giovanni, CORSICO, Angelo G., and FERRAROTTI, Ilaria

Published
2024
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4. Comprehensive Clinical Diagnostic Pipelines Reveal New Variants in Alpha-1-Antitrypsin Deficiency

Author

Ottaviani, Stefania, primary, Bartoli, Giulia, additional, Carroll, Tomás P, additional, Gangemi, Fabrizio, additional, Balderacchi, Alice M, additional, Barzon, Valentina, additional, Corino, Alessandra, additional, Piloni, Davide, additional, McElvaney, Noel G., additional, Corsico, Angelo G, additional, Irving, James A, additional, Fra, Annamaria, additional, and Ferrarotti, Ilaria, additional

Published
2023
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5. Comparison among populations with severe and intermediate alpha1-antitrypsin deficiency and chronic obstructive pulmonary disease

Author

PILONI, Davide, primary, OTTAVIANI, Stefania, additional, SADERI, Laura, additional, CORDA, Luciano, additional, BADERNA, Paolo, additional, BARZON, Valentina, additional, BALDERACCHI, Alice M., additional, SEEBACHER, Christine, additional, BALBI, Bruno, additional, ALBICINI, Federica, additional, CORINO, Alessandra, additional, MENNITTI, Maria C., additional, TIRELLI, Claudio, additional, SPREAFICO, Fabio, additional, BOSIO, Matteo, additional, MARIANI, Francesca, additional, SOTGIU, Giovanni, additional, CORSICO, Angelo G., additional, and FERRAROTTI, Ilaria, additional

Published
2023
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6. Alpha1-Antitrypsin Inherited Variants in Patients With Bronchiectasis

Author

Aliberti, Stefano, primary, Gramegna, Andrea, additional, Seia, Manuela, additional, Malvestiti, Francesco, additional, Mantero, Marco, additional, Sotgiu, Giovanni, additional, Simonetta, Edoardo, additional, Prati, Daniele, additional, Paganini, Stefania, additional, Ferrarotti, Ilaria, additional, Benzoni, Elena, additional, Stainer, Anna, additional, Santambrogio, Martina, additional, Saderi, Laura, additional, Balderacchi, Alice M., additional, Valenti, Luca, additional, Corsico, Angelo G., additional, Amati, Francesco, additional, and Blasi, Francesco, additional

Published
2023
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10. Patients with Alpha-1 antitrypsin Deficiency due to Null mutations have clinical peculiarities and should require personalized pulmonary management

Author

Ferrarotti, Ilaria, primary, Ottaviani, Stefania, additional, Paracchini, Elena, additional, Piloni, Davide, additional, Mariani, Francesca, additional, Paone, Gregorino, additional, Balderacchi, Alice M., additional, Barzon, Valentina, additional, Bosio, Matteo, additional, Kadija, Zamir, additional, Balbi, Bruno, additional, and Corsico, Angelo G., additional

Published
2019
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11. Alpha 1 -Antitrypsin Inherited Variants in Patients With Bronchiectasis.

Author

Aliberti S, Gramegna A, Seia M, Malvestiti F, Mantero M, Sotgiu G, Simonetta E, Prati D, Paganini S, Ferrarotti I, Benzoni E, Stainer A, Santambrogio M, Saderi L, Balderacchi AM, Valenti L, Corsico AG, Amati F, and Blasi F

Subjects
Humans, alpha 1-Antitrypsin genetics, Bronchiectasis genetics, alpha 1-Antitrypsin Deficiency complications, alpha 1-Antitrypsin Deficiency genetics
Published
2023
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