Janciauskiene S, DeLuca DS, Barrecheguren M, Welte T, Miravitlles M. Serum Levels of Alpha1-antitrypsin and their relationship with COPD in the General Spanish Population. Arch Bronconeumol. 2020; 56: 76-83.
Greulich T, Altraja A, Barrecheguren M, Bals R, Chlumsky J, Chorostowska-Wynimko J, Clarenbach C, Corda L, Corsico AG, Ferrarotti I, Esquinas C, Gouder C, Hećimović A, Ilic A, Ivanov Y, Janciauskiene S, Janssens W, Kohler M, Krams A, Lara B, Mahadeva R, McElvaney G, Mornex JF, O'Hara K, Parr D, Piitulainen E, Schmid-Scherzer K, Seersholm N, Stockley RA, Stolk J, Sucena M, Tanash H, Turner A, Ulmeanu R, Wilkens M, Yorgancioğlu A, Zaharie A, Miravitlles M. Protocol for the EARCO Registry: a pan-European observational study in patients with α1-antitrypsin deficiency. ERJ Open Res 2020; 6(1). pii: 00181-2019.
McElvaney GN, Sandhaus RA, Miravitlles M, Turino GM, Seersholm N, Wencker M, Stockley RA. Clinical considerations in individuals with Alpha-1 Antitrypsin PI*SZ genotype. Eur Respir J. 2020; 55: pii 1902410.
Sucena M, Gomes J, Guimarães C, Miravitlles M. Implementation of European Alpha-1 Research Collaboration (EARCO) in Portugal: the future starts now. Pulmonology 2020; 26(4): 181-183.
Blanco I, Diego I, Bueno P, Pérez-Holanda S, Casas-Maldonado F, Miravitlles M. Prevalence of α1-antitrypsin PiZZ genotypes in patients with COPD in Europe: a systematic review. Eur Respir Rev 2020; 29(157): 200014.
Miravitlles M, Nuñez A, Torres-Durán M, Casas-Maldonado F, Rodríguez-Hermosa JL, López-Campos JL, Calle M, Rodríguez E, Esquinas C, Barrecheguren M. The Importance of Reference Centers and Registries for Rare Diseases: The Example of Alpha-1 Antitrypsin Deficiency. COPD. 2020; 17(4): 346-354.
Matamala N, Gomez-Mariano G, Perez JA, Baladrón B, Torres-Durán M, Michel FJ, Saez R, Hernández-Pérez JM, Belmonte I, Rodriguez-Frias F, Blanco I, Strnad P, Janciauskiene S, Martinez-Delgado B. New cis-Acting Variants in PI*S Background Produce Null Phenotypes Causing Alpha-1 Antitrypsin Deficiency. Am J Respir Cell Mol Biol. 2020 Oct;63(4):444-451. doi: 10.1165/rcmb.2020-0021OC. PMID: 32515985
Irene Belmonte, Alexa Núñez, Miriam Barrecheguren, Cristina Esquinas, Mònica Pons, Rosa M. López-Martínez, Gerard Ruiz, Albert Blanco-Grau, Joan Genescà, Marc Miravitlles, Francisco Rodríguez-Frías..Trends in Diagnosis of Alpha-1 Antitrypsin Deficiency Between 2015 and 2019 in a Reference Laboratory. International Journal of Chronic Obstructive Pulmonary Disease 2020: 15: 2421–2431
Miravitlles M, Chorostowska-Wynimko J, Ferrarotti I, McElvaney NG, O'Hara K, Stolk J, Stockley RA, Turner A, Wilkens M, Greulich T; EARCO Clinical Research Collaboration; Members of the EARCO Clinical Research Collaboration. The European Alpha-1 Research Collaboration (EARCO): a new ERS Clinical Research Collaboration to promote research in alpha-1 antitrypsin deficiency. Eur Respir J 2019; 53(2). pii: 1900138.
Horváth I, Canotilho M, Chlumský J, Chorostowska-Wynimko J, Corda L, Derom E, Ficker JH, Kneussl M, Miravitlles M, Sucena M, Thabut G, Turner AM, van 't Wout E, McElvaney NG. Diagnosis and management of α1-antitrypsin deficiency in Europe: an expert survey. ERJ Open Res. 2019; 5(1). pii: 00171-2018.
Hamesch K, Mandorfer M, Pereira VM, Moeller LS, Pons M, Dolman GE, Reichert MC, Heimes CV, Woditsch V, Voss J, Lindhauer C, Fromme M, Spivak I, Guldiken N, Zhou B, Arslanow A, Schaefer B, Zoller H, Aigner E, Reiberger T, Wetzel M, Siegmund B, Simões C, Gaspar R, Maia L, Costa D, Bento-Miranda M, van Helden J, Yagmur E, Bzdok D, Stolk J, Gleiber W, Knipel V, Windisch W, Mahadeva R, Bals R, Koczulla R, Barrecheguren M, Miravitlles M, Janciauskiene S, Stickel F, Lammert F, Liberal R, Genesca J, Griffiths WJ, Trauner M, Krag A, Trautwein C, Strnad P; European Alpha1-Liver Study Group. Liver Fibrosis and Metabolic Alterations in Adults with Alpha1 Antitrypsin Deficiency Caused by the Pi*ZZ Mutation. Gastroenterology 2019; 157: 705-719.
Barrecheguren M, Miravitlles M. Treatment with inhaled α1-antitrypsin: a square peg in a round hole? Eur Respir J 2019; 54(5). pii: 1901894.
Soriano JB, Lucas SJ, Jones R, Miravitlles M, Carter V, Small I, Price D, Mahadeva R; Respiratory Effectiveness Group'. Trends of testing for and diagnosis of alpha-1 antitrypsin deficiency in the UK: more testing is needed. Eur Respir J 2018; 52: 1800360.
Barrecheguren M, Miravitlles M. Augmentation therapy for emphysema due to alpha-1 antitrypsin deficiency: Pro. Arch Bronconeumol 2018; 54: 363-364.
Torres-Durán M, Lopez-Campos JL, Barrecheguren M, Miravitlles M, Martinez-Delgado B, Castillo S, Escribano A, Baloira A, Navarro-Garcia MM, Pellicer D, Bañuls L, Magallón M, Casas F, Dasí F. Alpha-1 antitrypsin deficiency: outstanding questions and future directions. Orphanet J Rare Dis 2018; 13: 114.
Greulich T, Rodríguez-Frias F, Belmonte I, Klemmer A, Vogelmeier CF, Miravitlles M. Real world evaluation of a novel lateral flow assay (AlphaKit® QuickScreen) for the detection of alpha-1-antitrypsin deficiency. Respir Res 2018; 19: 151.
Calle Rubio M, Soriano JB, López-Campos JL, Soler-Cataluña JJ, Alcázar Navarrete B, Rodríguez González-Moro JM, Miravitlles M, Barrecheguren M, Fuentes Ferrer ME, Rodriguez Hermosa JL; EPOCONSUL Study. Testing for alpha-1 antitrypsin in COPD in outpatient respiratory clinics in Spain: A multilevel, cross-sectional analysis of the EPOCONSUL study. PLoS One 2018; 13: e0198777.
Esquinas C, Serreri S, Barrecheguren M, Rodriguez E, Nuñez A, Casas-Maldonado F, Blanco I, Pirina P, Lara B, Miravitlles M.Long-term evolution of lung function in individuals with alpha-1 antitrypsin deficiency from the Spanish registry (REDAAT). Int J Chron Obstruct Pulmon Dis. 2018 Mar 23;13:1001-1007. doi: 10.2147/COPD.S155226. eCollection 2018.
Nuñez A, Barrecheguren M, Rodríguez E, Miravitlles M, Esquinas C. Diagnosis of alpha1-antitrypsin deficiency not just in severe COPD. Pulmonology. 2018 Jun 16. pii: S2531-0437(18)30081-3. doi: 10.1016/j.pulmoe.2018.05.005.
Esquinas C, Miravitlles M. Are There Differences Between the Available Treatments for Emphysema Associated with Alpha-1 Antitrypsin Deficiency? Arch Bronconeumol. 2018 Sep;54(9):451-452. doi: 10.1016/j.arbres.2018.01.006.
Matamala N, Lara B, Gomez-Mariano G, Martínez S, Retana D, Fernandez T, Silvestre RA, Belmonte I, Rodriguez-Frias F, Vilar M, Sáez R, Iturbe I, Castillo S, Molina-Molina M, Texido A, Tirado-Conde G, Lopez-Campos JL, Posada M, Blanco I, Janciauskiene S, Martinez-Delgado B. Characterization of Novel Missense Variants of SERPINA1 Gene Causing Alpha-1 Antitrypsin Deficiency. Am J Respir Cell Mol Biol. 2018 Jun;58(6):706-716.
Nuñez A, Barrecheguren M, Rodríguez E, Miravitlles M, Esquinas C. Diagnosis of alpha1-antitrypsin deficiency not just in severe COPD. Pulmonol 2018;24: 351-353.
Belmonte I, Barrecheguren M, Esquinas C, Rodríguez E, Miravitlles M, Rodríguez-Frías Genetic diagnosis of α1-antitrypsin deficiency using DNA from buccal swab and serum samples. Clin Chem Lab Med. 2017 Aug 28;55(9):1276-1283.
Lara B, Blanco I, Martínez MT, Rodríguez E, Bustamante A, Casas F, Cadenas S, Hernández JM, Lázaro L, Torres M, Curi S, Esquinas C, Dasí F, Escribano A, Herrero I, Martínez-Delgado B, Michel FJ, Rodríguez-Frías F, Miravitlles M. Spanish Registry of Patients with Alpha-1 Antitrypsin Deficiency: Database Evaluation and Population Analysis. Arch Bronconeumol. 2017 Jan;53(1):13-18.
Blanco I, Bueno P, Diego I, Pérez-Holanda S, Casas-Maldonado F, Esquinas C, Miravitlles M. Alpha-1 antitrypsin Pi*Z gene frequency and Pi*ZZ genotype numbers worldwide: an update. Int J Chron Obstruct Pulmon Dis. 2017 Feb 13;12:561-569.
Rahaghi FF, Miravitlles M. Long-term clinical outcomes following treatment with alpha 1-proteinase inhibitor for COPD associated with alpha-1 antitrypsin deficiency: a look at the evidence.Respir Res. 2017 May 30;18(1):105.
Blanco I, Bueno P, Diego I, Pérez-Holanda S, Lara B, Casas-Maldonado F, Esquinas C, Miravitlles M.Alpha-1 antitrypsin Pi*SZ genotype: estimated prevalence and number of SZ subjects worldwide. Int J Chron Obstruct Pulmon Dis. 2017 Jun 8;12:1683-1694.
Esquinas C, Janciauskiene S, Gonzalo R, Mas de Xaxars G, Olejnicka B, Belmonte I, Barrecheguren M, Rodriguez E, Nuñez A , Rodriguez-Frias F, Miravitlles M. Gene and miRNA expression profiles in PBMCs from patients with severe and mild emphysema with PiZZ Alpha1-Antitrypsin Deficiency. Int Journal COPD. Oct 2017; 12: 3381-3390.
Miravitlles M, Dirksen A, Ferrarotti I, Koche N, Stolk J, Thabut G, Turner A, Vogelmeier C, Stockley R. Euroepan Respiratory Society Statement: Diagnosis and treatment of pulmonary disease in alpha-1 antitrypsin deficiency. Eur Respir J. 2017 Nov 30;50(5). pii: 1700610. doi: 10.1183/13993003.00610-2017.
Balbi B, Ferrarotti I, Miravitlles M. Augmentation therapy for emphysema in alpha-1 antitrypsin deficiency: enough is enough. Eur Respir J 2016; 47: 35-38.
Belmonte I, Montoto LM, Miravitlles M, Barrecheguren M, Esquinas C, Rodríguez E, Giralt M, Rodríguez-Frías F. Rapid detection of MMalton alpha-1 antitrypsin deficiency allele by real-time PCR and melting curves in whole blood, serum and dried blood spot samples. Clin Chem Lab Med 2016; 54: 241-248.
Esquinas C, Barrecheguren M, Sucena M, Rodriguez E, Fernandez S, Miravitlles M. Practice and knowledge about diagnosis and treatment of alpha-1 antitrypsin deficiency in Spain and Portugal. BMC Pulm Med 2016; 16: 64.
Barrecheguren M, Monteagudo M, Simonet P, Llor C, Rodriguez E, Ferrer J, Esquinas C, Miravitlles M. Diagnosis of alpha-1 antitrypsin deficiency: a population-based study. Int J Chron Obst Pulm Dis 2016; 11: 999-1004.
Lara B, Castillo S, Martinez MT, García Raymundo M, Miravitlles M. Characteristics of the included cases in the Spanish Registry of patients with alpha-1 antitrypsin deficiency (REDAAT). An Pedriatr 2016; 84: 233-234.
Belmonte I, Barrecheguren M, López-Martínez RM, Esquinas C, Rodríguez E, Miravitlles M, Rodríguez-Frías F. Application of a diagnostic algorithm for the rare deficient variant Mmalton of alpha-1-antitrypsin deficiency: a new approach. Int J Chron Obst Pulm Dis 2016; 11: 2535-2541.
Giacoboni D, Barrecheguren M, Esquinas C, Rodríguez E, Berastegui C, López-Meseguer M, Monforte M, Bravo C, Pirina P, Miravitlles M, Román A. Características de la población candidata a trasplante pulmonar por EPOC y por enfisema secundario a déficit de alfa 1 antitripsina. Arch Bronconeumol. 2015 Aug;51(8):379-83.
Menga G, Miravitlles M, Blanco I, Echazarreta AL, Rossi SE, Sorroche PB, Fernandez ME, Fernandez Acquier M, Saez Scherbovsky P, Figueroa Casas JC. Normativas de diagnóstico y tratamiento del déficit de alfa-1 antitripsina. Rev Arg Med Respir 2014; 1: 28-46.
Casas F, Blanco I, Martínez MT, Bustamante A, Miravitlles M, Cadenas S, Hernandez JM, Lázaro L, Rodriguez E, Rodriguez-Frías F, Torres M, Lara B. Actualización sobre indicaciones de búsqueda activa de casos y tratamiento con alfa-1 antitripsina por vía intravenosa en pacientes con enfermedad pulmonar obstructiva crónica asociada a déficit de alfa-1 antitripsina. Arch Bronconeumol 2015;51:185-92
Lara B, Miravitlles M. Spanish registry of patients with alpha-1 antitrypsin deficiency; comparison of the characteristics of PISZ and PIZZ individuals. COPD 2015; 12 (S1): 27-31.
Manca S, Rodríguez E, Huerta A, Torres M, Lázaro L, Curi S, Pirina P, Miravitlles M. Usefulness of the CAT, LCOPD, EQ-5D and COPDSS scales in understanding the impact of lung disease in patients with alpha-1 antitrypsin deficiency. COPD 2014; 11: 480-488.
Red Española en Déficti de Alfa1 Antitripsina
http://centroandaluzalfa1.org/
Alfa 1 España, Asociación de afectados por el Déficit de Alfa-1 Antitripsina
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EURORDIS - The Voice of Rare Disease Patients in Europe
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L'enregistrament de casos amb DAAT que es realitzava a través del REDAAT passa a realitzar-se a través del Registre Internacional de Dèficit d’Alfa-1 Antitripsina (EARCO), que funciona des del gener de 2020. Actualment hi ha un total de 7 centres espanyols col·laborant i un total de 170 pacients amb DAAT enregistrats.
El darrer 27 de novembre de 2020 es va celebrar el DAAT Experts Forum virtual, patrocinat per CSL- Behring i coordinat pel Dr. M. Miravitlles i la Dra. C. Guimarães. En la sessió es van exposar i debatre els temes més actuals sobre el DAAT.
L'11 de febrer de 2021, de 17 a 18 hores, es celebrarà la I Trobada Virtual de Pacients i Família amb DAAT. Moderarà la sessió Marc Miravitlles
Con la colaboración de Grifols
Amb la col·laboració de Grifols
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