Results 21 to 30 of about 12,377 (185)
AASLD practice guidance on drug, herbal, and dietary supplement–induced liver injury
, 2022 Hepatology, EarlyView.
Robert J. Fontana +6 more
wiley +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 +12 more
doaj +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 +5 more
doaj +2 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 +5 more
doaj +1 more source
GE: Portuguese Journal of Gastroenterology, 2023 Alpha-1 antitrypsin deficiency (AATD) is one of the most common genetic diseases and is caused by mutations in the SERPINA1 gene. The homozygous Pi*Z variant is responsible for the majority of the classic severe form of alpha-1 antitrypsin deficiency ...
Nélia Abreu +3 more
doaj +1 more source
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 +5 more sources
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 +8 more
doaj +1 more source
A Review of Alpha-1 Antitrypsin Deficiency
Seminars in Respiratory and Critical Care Medicine, 2005 Alpha-1 antitrypsin (AAT) is a protein that prevents enzymes such as elastin from degrading normal host tissue. Individuals who are deficient in AAT (those with levels < 11 micromol/L) are at risk for developing such clinical manifestations as emphysema, cirrhosis, panniculitis, and anticytoplasmic neutrophilic antibody (C-ANCA)-positive vasculitis ...
Justin, Ranes, James K, Stoller
openaire +4 more sources
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 +6 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