Results 41 to 50 of about 32,701 (226)

Alpha-1 antitrypsin deficiency impairs lung antibacterial immunity in mice

JCI Insight, 2021
Alpha-1 antitrypsin (AAT) is a major inhibitor of serine proteases in mammals. Therefore, its deficiency leads to protease–antiprotease imbalance and a risk for developing lung emphysema.
L. Ostermann, R. Maus, J. Stolper, Lisanne Schütte, K. Katsarou, Srinu Tumpara, A. Pich, C. Mueller, S. Janciauskiene, T. Welte, U. Maus   +10 more
semanticscholar   +1 more source

PROINFLAMMATORY CYTOKINE PROFILE IN PATIENTS WITH DIFFERENT ALPHA-1-ANTITRYPSIN PHENOTYPES

Медицинская иммунология, 2016
Alpha-1-antitrypsin (A1AT) exerts a wide spectrum of protective effects, being focused on reduction of secondary injury in inflammation. Moreover, A1AT inhibits some serine proteases, and down-regulates production of proinflammatory cytokines.
M. Yu. Pervakova, S. V. Lapin, E. A. Surkova, O. Yu. Tkachenko, A. I. Budkova, V. I. Guseva, O. N. Titova, V. L. Emanuel, Areg A. Totolian   +8 more
doaj   +1 more source

Non-invasive testing for liver pathology in alpha-1 antitrypsin deficiency

BMJ Open Respiratory Research, 2020
Background Many patients with alpha-1 antitrypsin deficiency (A1ATD) receive care in respiratory clinics without access to specialist hepatology expertise. Liver disease can develop asymptomatically, and non-invasive markers of fibrosis may help identify
John R Hurst, Elisha Pickett, Douglas Thorburn, Aileen Marshall, Bibek Gooptu, Syed Hamza Abbas   +5 more
doaj   +1 more source

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 “Hereditary Emphysema” Experience: A Patient–Physician Perspective

Pulmonary Therapy, 2020
This article is co-authored by a patient living with alpha-1 antitrypsin deficiency, and her treating physician. The commentary article describes the patient’s experience of the diagnosis and treatment process.
Katie Moyer, Kamyar Afshar
doaj   +1 more source

Alpha 1-antitrypsin deficiency in patients with chronic obstructive pulmonary disease patients: is systematic screening necessary?

BMC Research Notes, 2019
Objective Alpha-1-antitrypsin deficiency is a relatively prevalent, but under-diagnosed, genetic disease. The objective of this study was to assess whether the systematic screening for alpha-1-antitrypsin deficiency in all patients with chronic ...
Cláudia Henrique da Costa, Arnaldo José Noronha Filho, Rosa Maria Fernambel Marques e Silva, Thaís Ferrari da Cruz, Valeria de Oliveira Monteiro, Margareth Pio, Rogério Lopes Rufino   +6 more
doaj   +1 more source

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

Mineralization of alpha-1-antitrypsin inclusion bodies in Mmalton alpha-1-antitrypsin deficiency

Orphanet Journal of Rare Diseases, 2018
Background Alpha-1-antitrypsin (AAT) deficiency (AATD) of Z, Mmalton, Siiyama type is associated with liver storage of the mutant proteins and liver disease.
Francesco Callea, Isabella Giovannoni, Paola Francalanci, Renata Boldrini, Gavino Faa, Daniela Medicina, Valerio Nobili, Valeer J. Desmet, Kamal Ishak, Kuniaki Seyama, Emanuele Bellacchio   +10 more
doaj   +1 more source

Host genomics of COVID-19: Evidence point towards Alpha 1 antitrypsin deficiency as a putative risk factor for higher mortality rate

Medical Hypotheses, 2021
Corona Virus Disease 2019 (COVID-19) has emerged as a pandemic leading to unprecedented disruption of global health and economy. Transmembrane protease serine 2 (TMPRSS2) has been found to be critical in priming the viral spike protein and the host ACE2 ...
A. Dutta, K. Goswami
semanticscholar   +1 more source

Postponed diagnosis of alpha-1 antitrypsin deficiency [PDF]

Srpski Arhiv za Celokupno Lekarstvo, 2016
nema
Stojković-Lalošević Milica, Stjepanović Mihailo, Čolović Nataša, Marić-Živković Jasmina, Mihailović-Vučinić Violeta, Stojković Mirjana   +5 more
doaj   +1 more source