Results 11 to 20 of about 30,535,009 (215)

ALPHA-1-ANTITRYPSIN DEFICIENCY IN CHILDREN [PDF]

Медицинский совет, 2017
Hereditary deficiency of the alpha-1-antitrypsin occupies a leading position among the causes of chronic nonspecific lung diseases with emphysema formation.
S. I. MELNIK, M. V. PINEVSKAYA, E. A. ORLOVA, S. V. STAREVSKAYA, I. Y. MELNIKOVA, V. I. LARIONOVA   +5 more
doaj   +2 more sources

Exacerbations, health status and sibling pair comparisons in severe Alpha-1-Antitrypsin Deficiency [PDF]

, 2007
Alpha-1-Antitrypsin Deficiency (AATD) is a risk factor for the development of early-onset emphysema and airflow obstruction. The current work defines exacerbations, lung function and health status in these patients including sibling pairs.
Needham, Michelle
core   +7 more sources

Alpha-1 Antitrypsin Deficiency: Principles of Care

Acta Médica Portuguesa, 2020
Alpha-1 antitrypsin deficiency is an autosomal co-dominant inherited disorder that results in decreased circulating levels of alpha-1 antitrypsin (also known as alpha-1 proteinase inhibitor) and predisposes affected individuals to early onset lung and ...
Joana F. Rodrigues, Alexandra Mineiro, António Reis, David G. Ventura, Fernando Fernandez-Llimos, Filipa Costa, Joana Gomes, José Manuel Silva, Paulo Lopes, Carlos Robalo Cordeiro   +9 more
doaj   +1 more source

Alpha-1 Antitrypsin Deficiency Liver Disease [PDF]

Clinics in Liver Disease, 2021
Liver disease in homozygous ZZ alpha-1 antitrypsin (AAT) deficiency occurs due to the accumulation of large quantities of AAT mutant Z protein polymers in the liver. The mutant Z protein folds improperly during biogenesis and is retained within the hepatocytes rather than appropriately secreted.
Dhiren, Patel, Shannon L, McAllister, Jeffrey H, Teckman   +2 more
openaire   +3 more sources

Alpha-1 Antitrypsin Deficiency: Home Therapy

Frontiers in Pharmacology, 2021
While available in only a few countries, home therapy is a possible strategy for the treatment of alpha-1 antitrypsin deficiency. We want to describe our experience in the management of human alpha-1 antitrypsin using home care intravenous augmentation ...
Anna Annunziata, Maurizia Lanza, Antonietta Coppola, Paolo Andreozzi, Sara Spinelli, Giuseppe Fiorentino   +5 more
doaj   +1 more source

Clarifying the relationship between pulmonary langerhans cell histiocytosis and Alpha 1 antitrypsin deficiency

Orphanet Journal of Rare Diseases, 2021
Pulmonary Langerhans cell histiocytosis (PLCH) is a rare, smoking related, progressive diffuse cystic lung disease that occurs primarily in smokers. The aim of this study was to determine if there was an increase in alpha-1 antitrypsin deficient alleles ...
Cormac McCarthy, Emmanuelle Bugnet, Amira Benattia, Michael P. Keane, Benoit Vedie, Gwenaël Lorillon, Abdellatif Tazi   +6 more
doaj   +1 more source

AASLD practice guidance on drug, herbal, and dietary supplement–induced liver injury

, 2022
Hepatology, EarlyView.
Robert J. Fontana, Iris Liou, Adrian Reuben, Ayako Suzuki, M. Isabel Fiel, William Lee, Victor Navarro   +6 more
wiley   +1 more source

Case-finding for alpha1-antitrypsin deficiency in Kazakh patients with COPD

Multidisciplinary Respiratory Medicine, 2017
Background Alpha-1-antitrypsin deficiency (AATD) is an under-diagnosed condition in patients with chronic obstructive pulmonary disease (COPD). The aim of this study was to screen for AATD in Kazakh patients with COPD using dried blood spot specimens ...
Ardak Zhumagaliyeva, Stefania Ottaviani, Timm Greulich, Marina Gorrini, Claus Vogelmeier, Ludmila Karazhanova, Gulmira Nurgazina, Annalisa DeSilvestri, Victor Kotke, Valentina Barzon, Michele Zorzetto, Angelo Corsico, Ilaria Ferrarotti   +12 more
doaj   +1 more source

Update on and future perspectives for the diagnosis of alpha-1 antitrypsin deficiency in Brazil

Jornal Brasileiro de Pneumologia, 2021
Alpha-1 antitrypsin deficiency (AATD) is a rare genetic disorder caused by a mutation in the SERPINA1 gene, which encodes the protease inhibitor alpha-1 antitrypsin (AAT). Severe AATD predisposes individuals to COPD and liver disease.
José R Jardim, Francisco Casas-Maldonado, Frederico Leon Arrabal Fernandes, Maria Vera Cruz de O Castellano, María Torres-Durán, Marc Miravitlles   +5 more
doaj   +2 more sources

Three new Alpha1-Antitrypsin deficiency variants help to define a C-Terminal region regulating conformational change and polymerization [PDF]

, 2012
Alpha1-antitrypsin (AAT) deficiency is a hereditary disorder associated with reduced AAT plasma levels, predisposing adults to pulmonary emphysema.
Fra Anna M., Fra, Anna M, Anna M. Fra (157302), Scabini, Roberta, Federica Benini, Ferrarotti, Ilaria, L. Corda, Corda, Luciano, Scabini R, E. Miranda, LUISETTI, MAURIZIO, Miranda Elena, Benini, Federica, Corda, L., Benini, F., Medicina D, Luciano Corda, Maurizio Luisetti (142908), Luisa Schiaffonati, I. Ferrarotti, Anna M. Fra, Ilaria Ferrarotti (142893), Luisetti M, Gooptu Bibek, Miranda, E., SCHIAFFONATI, Luisa, Gooptu, Bibekbrata, Anna M Fra, Medicina, Daniela, Elena Miranda, Schiaffonati Luisa, Ferrarotti, I., Medicina, D., R. Ronzoni, Luisetti Maurizio, Daniela Medicina, R. Scabini, L. Schiaffonati, Roberta Scabini (157306), Ferrarotti Ilaria, Ronzoni, R., B. Gooptu, Ferrarotti I, Bibek Gooptu (157303), Luciano Corda (157317), F. Benini, Scabini Roberta, Gasset, M., A. M. Fra, MIRANDA BANOS, MARIA ELENA, Fra, A.M., Ilaria Ferrarotti, Medicina Daniela, FRA, Annamaria, RONZONI, Riccardo, Gooptu B, Daniela Medicina (157321), Ronzoni Riccardo, Benini Federica, Miranda, Elena, D. Medicina, Corda Luciano, Maurizio Luisetti, Benini F, Scabini, R., Corda L, Roberta Scabini, Riccardo Ronzoni (157309), Luisa Schiaffonati (157328), Federica Benini (157312), Riccardo Ronzoni, Gooptu, Bibek, Luisetti, M., Schiaffonati, L., Elena Miranda (21508), Bibek Gooptu, Miranda E   +76 more
core   +2 more sources