Results 1 to 10 of about 26,458 (238)

Alpha-1 antitrypsin deficiency [PDF]

Respiratory Medicine, 2010
To review the topic of alpha-1 antitrypsin (AAT) deficiency.Narrative literature review.Much work has been carried out on this condition with many questions being answered but still further questions remain.AAT deficiency is an autosomal co-dominantly inherited disease which affects the lungs and liver predominantly.
Emer Kelly, Catherine M Greene, Tomáš P Carroll   +2 more
exaly   +8 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 ...
, Joanna Chorostowska-Wynimko, Andreas Rembert Koczulla   +2 more
exaly   +4 more sources

Mineralization of alpha-1-antitrypsin inclusion bodies in Mmalton alpha-1-antitrypsin deficiency [PDF]

Orphanet Journal of Rare Diseases, 2018
Alpha-1-antitrypsin (AAT) deficiency (AATD) of Z, Mmalton, Siiyama type is associated with liver storage of the mutant proteins and liver disease. The Z variant can be diagnosed on isoelectric focusing (IEF) while Mmalton and Siiyama may be missed or misdiagnosed with this technique. Therefore, molecular analysis is mandatory for their characterization.
Callea F., Giovannoni I., Francalanci P., Boldrini R., Faa G., Medicina D., Nobili V., Desmet V. J., Ishak K., Seyama K., Bellacchio E.   +10 more
openaire   +6 more sources

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

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 deficiency [PDF]

Archives of Disease in Childhood, 2001
α-1 antitrypsin is synthesised in the liver and protects lung alveolar tissues from destruction by neutrophil elastase. α-1 antitrypsin deficiency is a common autosomal recessive condition (1:1600 to 1:1800) in which liver disease results from retention of abnormal polymerised α-1 antitrypsin in the endoplasmic reticulum of hepatocytes, and emphysema ...
Primhak, R.A., Tanner, M.S.
openaire   +4 more sources

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

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