Results 31 to 40 of about 36,985 (244)

Idiopathic Hemochromotosis and Alpha‐1‐Antitrypsin Deficiency: Coexistence in a Family with Progressive Liver Disease in the Proband [PDF]

, 1983
A patient with coexistent hemochromatosis and alpha‐1‐antitrypsin deficiency which led to cirrhosis and death despite adequate therapy for hemochromatosis is reported. Evaluation of the family revealed first degree relatives with iron overload and others
Addison, Allen, Amos, Anonymous, Bomford, Brozovich, Caraway, Chapuis-Cellier, Gadek, Gerblich, Hodges, Hood, Larson, Lloyd, Powell, Reintoft, Saugier, Simon, Simon, Simon, Sternberger, Sveger   +21 more
core   +1 more source

The skeletal phenotype of chondroadherin deficient mice [PDF]

, 2013
Chondroadherin, a leucine rich repeat extracellular matrix protein with functions in cell to matrix interactions, binds cells via their a2b1 integrin as well as via cell surface proteoglycans, providing for different sets of signals to the cell ...
A Franzen, A Vortkamp, B Ganss, B Lanske, B Mansson, C Landgren, C Wiberg, Christiane Petzold, Christina Wenglén, Dick Heinegård, E Hedbom, Elizabeth K. Tanner, ES Baekkevold, Espen S. Baekkevold, Finn P. Reinholt, FP Reinholt, GK Hunter, Gunhild A. Stordalen, H Kojima, HY Zhou, J Sodek, JA Gordon, JM Johnson, K Hultenby, K Hultenby, KG Danielson, L Camper, L Svensson, Lovisa Hessle, M Mizuno, Nikos K. Karamanos, P Bianco, Patrik Önnerfjord, PJ Neame, R Fassler, S Chakravarti, SH Brorson, Sverre-Henning Brorson, T Hildebrand, T Larsson, T Xu, WJ Whitehouse, Y Sommarin, Y Sommarin, Z Shen   +44 more
core   +4 more sources

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

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

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: 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

Distinct emphysema subtypes defined by quantitative CT analysis are associated with specific pulmonary matrix metalloproteinases. [PDF]

, 2016
BACKGROUND: Emphysema is characterised by distinct pathological sub-types, but little is known about the divergent underlying aetiology. Matrix-metalloproteinases (MMPs) are proteolytic enzymes that can degrade the extracellular matrix and have been ...
Bourne, S, Coombs, NA, Elkington, PT, Estepar, RS, Harden, S, Kim, V, Ostridge, K, Staples, KJ, Washko, G, Wilkinson, TM, Williams, N   +10 more
core   +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