Results 1 to 10 of about 42,616 (247)

Z variant heterozygosity in alpha-1 antitrypsin deficiency: disease risk and treatment implications [PDF]

Orphanet Journal of Rare Diseases
Background Individuals heterozygous for alpha-1 antitrypsin deficiency (AATD) have one copy of the normal “M” allele and one copy of an abnormal allele (“Z”, “S”, or another variant) in the SERPINA1 gene.
Craig P. Hersh, Jeffrey H. Teckman, Pavel Strnad, Aaron Hakim, Tomás P. Carroll, Ian P. Hall, Auyon J. Ghosh, Igor Barjaktarevic, Noel G. McElvaney, Joseph E. Kaserman, David A. Lomas, Charlie Strange, M. Bradley Drummond, Stephen Rennard, Kathi E. Hanna, Virginia C. Clark, Monica P. Goldklang, Peg Iverson, Andrew A. Wilson   +18 more
doaj   +2 more sources

Alpha 1 antitrypsin to treat lung disease in alpha 1 antitrypsin deficiency: recent developments and clinical implications

International Journal of COPD, 2018
Kenneth R Chapman,1 Joanna Chorostowska-Wynimko,2 A Rembert Koczulla,3 Ilaria Ferrarotti,4 Noel G McElvaney5 1Department of Medicine, University of Toronto, Toronto, ON, Canada; 2Department of Genetics and Clinical Immunology, National Institute of ...
Chapman KR, Chorostowska-Wynimko J, Koczulla AR, Ferrarotti I, McElvaney NG   +4 more
doaj   +2 more sources

Lung transplant outcomes for recipients with alpha-1 antitrypsin deficiency, by use of alpha-1 antitrypsin augmentation therapy [PDF]

JHLT Open
Background: For patients with alpha-1 antitrypsin (AAT) deficiency, AAT augmentation therapy can be an important part of care. However, for those who require a lung transplant (LT), there is currently only limited information to guide the use of AAT ...
Atharv V. Oak, MEng, Jessica M. Ruck, MD, PhD, Alfred J. Casillan, MD, PhD, Armaan F. Akbar, BS, Ramon A. Riojas, MD, PhD, Pali D. Shah, MD, Jinny S. Ha, MD, MHS, Sara Strout, PharmD, Allan B. Massie, PhD, Dorry L. Segev, MD, PhD, Christian A. Merlo, MD, MPH, Errol L. Bush, MD   +11 more
doaj   +2 more sources

Expert Perspectives on the Management of Alpha 1-Antitrypsin Deficiency

Acta Médica Portuguesa, 2022
Alpha 1-antitrypsin deficiency is an inherited autosomal codominant disorder, which predisposes patients to lung and/or liver disease. Even though it is considered rare, it is one of the most frequent genetic disorders worldwide, albeit remaining ...
Bebiana Conde, Filipa Costa, Joana Gomes, António Paulo Lopes, Maria Alexandra Mineiro, Orlando Rodrigues, Cristina Santos, Luísa Semedo, Maria Sucena, Catarina Guimarães   +9 more
doaj   +1 more source

Association of alpha-1 antitrypsin level and lung function in patients with chronic obstructive pulmonary disease [PDF]

Srpski Arhiv za Celokupno Lekarstvo, 2017
Introduction/Objective. Alpha-1 antitrypsin deficiency is a well established inherited risk factor for chronic obstructive pulmonary disease (COPD); however, alpha-1 antitrypsin level may result in different lung function reduction.
Serapinas Danielius, Nutautiene Ruta, Pukinskaite Ruta, Bartkeviciene Daiva, Barkauskiene Diana, Sakalauskas Raimundas   +5 more
doaj   +1 more source

The impact of diagnostic delay on survival in alpha-1-antitrypsin deficiency: results from the Austrian Alpha-1 Lung Registry

Respiratory Research, 2023
Background Alpha-1-antitrypsin (AAT) deficiency (AATD) is a genetic disorder that can manifest as lung disease. A delay between onset of symptoms and diagnosis of AATD is common and associated with worse clinical status and more advanced disease stage ...
Tobias Meischl, Karin Schmid-Scherzer, Florian Vafai-Tabrizi, Gert Wurzinger, Eva Traunmüller-Wurm, Kristina Kutics, Markus Rauter, Fikreta Grabcanovic-Musija, Simona Müller, Norbert Kaufmann, Judith Löffler-Ragg, Arschang Valipour, Georg-Christian Funk   +12 more
doaj   +1 more source

Alpha-1-antitrypsin: a novel human high temperature requirement protease A1 (HTRA1) substrate in human placental tissue. [PDF]

PLoS ONE, 2014
The human serine protease high temperature requirement A1 (HTRA1) is highly expressed in the placental tissue, especially in the last trimester of gestation. This suggests that HTRA1 is involved in placental formation and function.
Violette Frochaux, Diana Hildebrand, Anja Talke, Michael W Linscheid, Hartmut Schlüter   +4 more
doaj   +1 more source

Liver Transplantation for Advanced Liver Disease with Alpha-1antitrypsin Deficiency [PDF]

, 1980
ALPHA-1-antitrypsin deficiency associated with chronic obstructive airway disease was recognized in 1963 by Laurell and Ericksson.1 In 1969, Sharp2 described the first cases of alpha-1-antitrypsin-deficiency disease in children with cirrhosis. Since then,
Allan G. Redeker, Anonymous, Brand, Cox, Eisen, Fagerhol, Gastel, Gerhard P. J. Schröter, Hirschberger, Jacobsson, Janoff, John M. Hood, Kueppers, Kuhlenschmidt, Laurell, Lawrence J. Koep, Odièvre, Putnam, Richard Weil, Robert L. Peters, Roy, Rynbrandt, Sharp, Sharp, Sharp, Thomas E. Starzl, Tálamo   +26 more
core   +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

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