Results 31 to 40 of about 30,834,870 (206)

Alpha-1 antitrypsin deficiency gut microbiome

open access: yes, 2020
This dataset contains 16S rRNA Illumina MiSeq sequenced samples used in our gut microbiome study in individuals with alpha-1 antitrypsin deficiency (AATD) and controls (non-AATD)
Kirst, ME (University of Florida)
core   +1 more source

Future Perspectives in the Diagnosis and Treatment of Liver Disease Associated with Alpha-1 Antitrypsin Deficiency

open access: yesGE: 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

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

open access: yesМедицинская 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

Causal and Synthetic Associations of Variants in the SERPINA Gene Cluster with Alpha1-antitrypsin Serum Levels [PDF]

open access: yes, 2013
Several infrequent genetic polymorphisms in the SERPINA1 gene are known to substantially reduce concentration of alpha1-antitrypsin (AAT) in the blood.
Marjo-Riitta Jarvelin   +323 more
core   +2 more sources

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

open access: yesBMC 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

open access: yesPulmonary 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 and Pregnancy

open access: yesCOPD: Journal of Chronic Obstructive Pulmonary Disease, 2020
Alpha-1 Antitrypsin Deficiency (A1AD) is a hereditary condition characterized by low levels of circulating alpha-antitrypsin (AAT) in plasma. It is the best understood genetic risk factor for the development of chronic obstructive pulmonary disease (COPD). The diagnosis of A1AD is under-recognized.
Nate T. Gaeckle   +2 more
openaire   +2 more sources

A Review of Alpha-1 Antitrypsin Deficiency

open access: yesCOPD: Journal of Chronic Obstructive Pulmonary Disease, 2005
Alpha-1 antitrypsin (AAT) deficiency is a common but under-recognized disease. This hereditary disorder is characterized by low levels of AAT, and increased risks of panacinar emphysema at an early age, liver disease, vasculitis and panniculitis.
Octavian C, Ioachimescu   +1 more
openaire   +4 more sources

Alpha1 antitrypsin deficiency due to an homozygous PI* Null Q0Cairo mutation: Early onset of pulmonary manifestations and variability of clinical expression

open access: yesRespiratory 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   +8 more
doaj   +1 more source

Clinical features in patients with severe Alpha-1 antitrypsin deficiency due to rare genotypes

open access: yesPulmonology
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   +18 more
doaj   +1 more source

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