Results 31 to 40 of about 42,616 (245)

Clinical features in patients with severe Alpha-1 antitrypsin deficiency due to rare genotypes

Pulmonology
Alpha-1 Antitrypsin Deficiency (AATD) is a co-dominant condition associated with an increased risk of lung and liver disease. Since it is commonly thought that 95% of severe cases of AATD have PI*ZZ genotype, most studies about AATD have been focused on ...
Ilaria Ferrarotti, Davide Piloni, Asia Filosa, Stefania Ottaviani, Valentina Barzon, Alice Maria Balderacchi, Luciano Corda, Christine Seebacher, Sara Magni, Francesca Mariani, Paolo Baderna, Paola Confalonieri, Leonardo Iannacci, Silvia Mancinelli, Paola Putignano, Carlo Albera, Giulia Maria Stella, Maria Cristina Monti, Angelo Guido Corsico   +18 more
doaj   +1 more source

Serum alpha-1-antitrypsin level in Iraqi patients with coronary heart disease

مجلة مركز بحوث التقنيات الاحيائية, 2011
This study was designed to estimate the level of serum alpha -1- antitrypsin in patients with coronary heart disease. Patients were clinically subdivided into stable angina 25 patients, unstable angina30 patients and myocardial infarction 50 patients. A
Asmaa M. Salih
doaj   +1 more source

Alpha-1-Antitrypsin Deficiency

Seminars in Liver Disease, 1998
Homozygous PIZZ alpha 1-antitrypsin deficiency, which has an incident of 1 in 1600 to 1 in 2000 live births, is the most common genetic cause of liver disease in children. It is also associated with chronic liver disease and hepatocellular carcinoma in adults. It is a well-known cause of pulmonary emphysema.
Paone G, Brantly M.
openaire   +5 more sources

Functional protection by acute phase proteins alpha(1)-acid glycoprotein and alpha(1)-antitrypsin against ischemia/reperfusion injury by preventing apoptosis and inflammation. [PDF]

, 2000
BACKGROUND: Ischemia followed by reperfusion (I/R) causes apoptosis, inflammation, and tissue damage leading to organ malfunction. Ischemic preconditioning can protect against such injury.
BUURMAN, WA, DAEMEN, M, Denecker, Geertrui, HEEMSKERK, VH, VAN 'T VEER, C, Vandenabeele, Peter, WOLFS, TGAM   +6 more
core   +3 more sources

Alpha1 antitrypsin deficiency due to an homozygous PI* Null Q0Cairo mutation: Early onset of pulmonary manifestations and variability of clinical expression

Respiratory Medicine Case Reports, 2018
Alpha-1 antitrypsin deficiency is an autosomal, codominant disorder caused by mutations of the SERPINA1 gene. This genetic disorder is mainly associated with development of pulmonary emphysema and/or chronic liver disease and cirrhosis.Here we report a ...
Zineb Jouhadi, Marie Francoise Odou, Farid Zerimech, Ahmed Aziz Bousfiha, Nabiha Mikou, Nicole Porchet, Michel Crepin, Jilali Najib, Malika Balduyck   +8 more
doaj   +1 more source

Alpha-1 antitrypsin deficiency

Medicina Clínica (English Edition), 1977
Alpha-1 antitrypsin deficiency (AATD) is a rare hereditary condition caused by decreased plasma and tissue levels of alpha-1 antitrypsin (AAT) that can lead to serious lung and liver disease in children and adults. AATD patients face challenges such as under diagnosis, clinical variability, and limited treatment options for liver disease.
openaire   +4 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

Treatment of lung disease in alpha-1 antitrypsin deficiency: a systematic review - Supplementary Material [PDF]

, 2017
Research data used in the paper 'Treatment of lung disease in alpha-1 antitrypsin deficiency: a systematic review.', Edgar RG, Patel M, Bayliss S, Crossley D, Sapey E, Turner AM, forthcoming in The International Journal of Chronic Obstructive Pulmonary ...
Bayliss, S., Crossley, D., Edgar, R.G., Patel, M., Sapey, E., Turner, A.M.   +5 more
core   +2 more sources

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

Utility of routine screening for alpha-1 antitrypsin deficiency in patients with bronchiectasis [PDF]

, 2020
Alpha-1 antitrypsin deficiency (AATD) is a cause of bronchiectasis. Guidelines for bronchiectasis from the British Thoracic Society do not recommend to routinely test patients for AATD. In contrast, guidelines for AATD recommend routine screening.
Carreto, Luis, Chalmers, James D., Donovan, Jackie, Fardon, Tom, Finch, Simon, Furrie, Elisabeth, Loebinger, Michael, Morrison, Meghan, Tan, Gan Liang, Wilson, Robert   +9 more
core   +3 more sources