Results 81 to 90 of about 107,093 (255)

Augmentation therapy with human alpha-1-proteinase inhibitor reduces exacerbations in patient with bronchiectasis and alpha-1-antitrypsin deficiency

Respiratory Medicine Case Reports, 2022
Alpha-1-antitrypsin deficiency (AATD) is a rare cause of noncystic fibrosis (CF) bronchiectasis. The benefits of augmentation therapy in patients with chronic obstructive pulmonary disease (COPD) and pulmonary emphysema are well established.
Emanuel Buck, Maria Ada Presotto, Judith Brock, Kai Schlamp, Martina Veith, Felix J.F. Herth, Franziska Christina Trudzinski   +6 more
doaj   +1 more source

A Highly Phenotyped Open Access Repository of Alpha-1 Antitrypsin Deficiency Pluripotent Stem Cells

Stem Cell Reports, 2020
Summary Individuals with the genetic disorder alpha-1 antitrypsin deficiency (AATD) are at risk of developing lung and liver disease. Patient induced pluripotent stem cells (iPSCs) have been found to model features of AATD pathogenesis but only a handful
J. Kaserman, K. Hurley, Mark Dodge, C. Villacorta-Martin, Marall Vedaie, J. Jean, Derek C. Liberti, Marianne F. James, Michelle I. Higgins, Nora J. Lee, G. Washko, R. San José Estépar, J. Teckman, D. Kotton, A. Wilson   +14 more
semanticscholar   +1 more source

Multimodal MRI and multiomics reveal high‐risk neurophenotype in brain‐gut circuits as therapeutic target for Crohn's disease

Interdisciplinary Medicine, EarlyView.
Through a translational framework combining prospective dual‐center clinical cohorts with dextran sulfate sodium‐induced colitis models, this work integrated advanced neuroimaging, multi‐omics and neuromodulation interventions to redefine the high‐risk neurophenotype as a sustained pathogenic driver rather than a mere phenomenon, proposing brain‐gut ...
Xuehua Li, Ruonan Zhang, Xiaodi Shen, Shaochun Lin, Chuhuai Wang, Weikai Zheng, Weimiao Kong, Zihao Lin, Rongchang Li, Caiguang Liu, Xin Cao, Li Huang, Weitao He, Jinjiang Lin, Haijie Wang, Zhoulei Li, Marietta Iacucci, Subrata Ghosh, Zhenpeng Peng, Canhui Sun, Minhu Chen, Guang Yang, Yejun Wang, Ren Mao, Shi‐Ting Feng   +24 more
wiley   +1 more source

Utility of routine screening for alpha-1 antitrypsin deficiency in patients with bronchiectasis

Thorax, 2020
Alpha-1 antitrypsin deficiency (AATD) is a cause of bronchiectasis. Guidelines for bronchiectasis from the British Thoracic Society do not recommend to routinely test patients for AATD. In contrast, guidelines for AATD recommend routine screening.
L. Carreto, Mr G Morrison, J. Donovan, S. Finch, G. Tan, T. Fardon, R. Wilson, E. Furrie, M. Loebinger, J. Chalmers   +9 more
semanticscholar   +1 more source

Lung transplantation in alpha 1 antitrypsin deficiency

8.2 Transplantation, 2015
Lung transplantation is a therapeutic option for patients with end-stage lung disease and a survival benefit has been described in patients with alpha-1-antitrypsin deficiency (A1ATD). The aims of the current study were to determine the survival and health benefits of lung transplantation in UK patients with A1ATD compared to carefully matched non ...
Helen Marie, Stone, Ross Gareth, Edgar, Richard Damian, Thompson, Robert Andrew, Stockley   +3 more
openaire   +2 more sources

Multi‐omics biomarkers for intestinal infection and inflammation in inflammatory bowel disease: Current evidence, translational challenges, and diagnostic opportunities

Interdisciplinary Medicine, EarlyView.
Prospective multi‐site cohorts, multi‐omics profiling, and computational analysis may help identify biomarker patterns across clinical settings in IBD and superimposed infections. With further mechanistic and clinical validation, these signals could support the development of practical multi‐analyte tools for more precise diagnosis and management ...
Ziyu Yang, Jiayi Yao, Xinxian Zhao, Yan Xu, Yifan Chen, Tianchi Chen, Ying Jian, Min Li   +7 more
wiley   +1 more source

Liver organoids reproduce alpha-1 antitrypsin deficiency-related liver disease

Hepatology International, 2019
Background and aims Alpha-1 antitrypsin (AAT) is a product of SERPINA1 gene mainly expressed by hepatocytes. Clinically relevant mutations in the SERPINA1 gene, such as Z (Glu342Lys), results in an expression of misfolded AAT protein having high ...
G. Gomez-Mariano, N. Matamala, Selene Martínez, I. Justo, A. Marcacuzco, Carlos Jiménez, S. Monzón, I. Cuesta, C. Garfia, M. T. Martínez, Meritxell Huch, I. Pérez de Castro, M. Posada, S. Janciauskiene, B. Martínez-Delgado   +14 more
semanticscholar   +1 more source

Alpha-1 Antitrypsin Deficiency-Mediated Liver Toxicity: Why Do Some Patients Do Poorly? What Do We Know So Far?

Chronic obstructive pulmonary diseases, 2020
Alpha-1 antitrypsin deficiency (AATD) is a rare genetic disease caused by mutations in the SERPINA1 gene and is associated with a decreased level of circulating alpha-1 antitrypsin (AAT). Among all the known mutations in the SERPINA1 gene, homozygous for
M. Bouchecareilh
semanticscholar   +1 more source

Diagnosis of alpha-1-antitrypsin deficiency by DNA analysis of children with liver disease

Arquivos de Gastroenterologia, 2001
Background - Alpha-1-antitrypsin deficiency is a genetic disorder which is transmitted in a co-dominant, autosomal form. Alpha-1-antitrypsin deficiency affects mainly the lungs and the liver leading, in the latter case, to neonatal cholestasis, chronic ...
De TOMMASO Adriana Maria Alves, ROSSI Cláudio Lúcio, ESCANHOELA Cecília Amélia Fazzio, SERRA Heliane Guerra, BERTUZZO Carmen Sílvia, HESSEL Gabriel   +5 more
doaj  

What Is Alpha-1 Antitrypsin (AAT) Deficiency? Fact Sheet

, 2023
Basic facts about alpha-1 antitrypsin deficiency, managing your alpha-1 antitrypsin deficiency, how alpha-1 antitrypsin deficiency affects ...

core   +1 more source