Results 31 to 40 of about 459,657 (249)

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

Development of an RNAi therapeutic for alpha-1-antitrypsin liver disease.

JCI Insight, 2020
Autosomal co-dominant genetic disorder alpha-1 antitrypsin (AAT) deficiency (AATD) causes pulmonary and liver disease. Individuals homozygous for the mutant Z allele accumulate polymers of Z-AAT protein in hepatocytes, where AAT is primarily produced ...
C. Wooddell, K. Blomenkamp, Ryan M. Peterson, V. Subbotin, C. Schwabe, J. Hamilton, Q. Chu, D. Christianson, J. Hegge, J. Kolbe, H. Hamilton, M. Branca-Afrazi, B. Given, D. Lewis, E. Gane, S. Kanner, J. Teckman   +16 more
semanticscholar   +1 more source

Ethnic differences in alpha‐1 antitrypsin deficiency allele frequencies may partially explain national differences in COVID‐19 fatality rates

The FASEB Journal, 2020
Infection rates, severity, and fatalities due to COVID‐19, the pandemic mediated by SARS‐CoV‐2, vary greatly between countries. With few exceptions, these are lower in East and Southeast Asian and Sub‐Saharan African countries compared with other regions.
G. Shapira, N. Shomron, D. Gurwitz
semanticscholar   +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

Structural characterization and conformational dynamics of alpha-1 antitrypsin pathogenic variants causing alpha-1-antitrypsin deficiency

Frontiers in Molecular Biosciences, 2022
Background: Alpha-1 antitrypsin deficiency (A1ATD) is a progressive lung disease caused by inherited pathogenic variants in the SERPINA1 gene. However, their actual role in maintenance of structural and functional characteristics of the corresponding α-1
Noor Ahmad Shaik, Noor Ahmad Shaik, Najla Bint Saud Al-Saud, Thamer Abdulhamid Aljuhani, Kaiser Jamil, Huda Alnuman, Deema Aljeaid, Nasreen Sultana, Ashraf AbdulRahman El-Harouni, Zuhier Ahmed Awan, Zuhier Ahmed Awan, Ramu Elango, Ramu Elango, Babajan Banaganapalli, Babajan Banaganapalli   +14 more
doaj   +1 more source

Detection of alpha-1 antitrypsin deficiency: the past, present and future

Orphanet Journal of Rare Diseases, 2020
Background Most patients with alpha-1 antitrypsin deficiency remain undiagnosed and therefore do not benefit from current therapies or become eligible for research studies of new treatments under development.
M. Brantly, Michael A Campos, A. Davis, J. D’Armiento, K. Goodman, K. Hanna, Miriam O’Day, J. Queenan, R. Sandhaus, J. Stoller, C. Strange, J. Teckman, A. Wanner   +12 more
semanticscholar   +1 more source

alpha 1-antitrypsin deficiency.

Monaldi archives for chest disease = Archivio Monaldi per le malattie del torace, 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 IN CHILDREN

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   +1 more source

Augmentation therapy with human alpha-1-proteinase inhibitor reduces exacerbations in patient with bronchiectasis and alpha-1-antitrypsin deficiency

Respiratory Medicine Case Reports, 2022
Alpha-1-antitrypsin deficiency (AATD) is a rare cause of noncystic fibrosis (CF) bronchiectasis. The benefits of augmentation therapy in patients with chronic obstructive pulmonary disease (COPD) and pulmonary emphysema are well established.
Emanuel Buck, Maria Ada Presotto, Judith Brock, Kai Schlamp, Martina Veith, Felix J.F. Herth, Franziska Christina Trudzinski   +6 more
doaj   +1 more source

Alpha-1 antitrypsin deficiency and risk of lung cancer: A systematic review

Translational Oncology, 2020
Highlights • Alpha-1 antitrypsin deficiency (AATD) may increase the risk of lung cancer.• The lung cancer histological types most frequently associated with AATD are squamous carcinoma and adenocarcinoma.• No differences in lung cancer survival have been
Ramón Tubio-Pérez, M. Torres-Durán, A. Fernández-Villar, A. Ruano-Raviña   +3 more
semanticscholar   +1 more source