Results 51 to 60 of about 30,248,737 (228)

Impact of cystic fibrosis transmembrane conductance regulator modulator therapies on liver stiffness and liver enzymes: An observational perspective single‐center cohort study

JPGN Reports, EarlyView.
Abstract Objectives The efficacy of cystic fibrosis transmembrane conductance regulator (CFTR)‐modulator therapies in preventing or ameliorating cystic fibrosis liver disease (CFLD) by correcting CFTR in cholangiocytes is not well‐documented. This study aimed to assess liver function during CFTR‐modulators.
Laura Giugliano, Elisabetta Augustoni, Antonio Pizzol, Anna Opramolla, Cristina Chiadò, Anna Zagaria, Irene Esposito, Giulia Roberto, Alice Ponte, Andrea Evangelista, Paola Quarello, Michele Pinon, Pier Luigi Calvo   +12 more
wiley   +1 more source

Alpha 1-antitrypsin deficiency caused by the alpha 1-antitrypsin Nullmattawa gene. An insertion mutation rendering the alpha 1-antitrypsin gene incapable of producing alpha 1-antitrypsin. [PDF]

Journal of Clinical Investigation, 1989
alpha 1-Antitrypsin (alpha 1AT) deficiency is a hereditary disorder associated with reduced serum alpha 1AT levels and the development of pulmonary emphysema. An alpha 1AT gene is defined as "Null" when no alpha 1AT in serum is attributed to that alpha 1AT gene. Although all alpha 1AT Null genes have identical phenotypic consequences (i.e.
D, Curiel, M, Brantly, E, Curiel, L, Stier, R G, Crystal   +4 more
openaire   +2 more sources

The Brazilian Alagille syndrome study: New insights from a multicenter national cohort

JPGN Reports, EarlyView.
Abstract Objectives To elucidate the natural history of liver disease and identify the predictors of native liver survival (NLS) in a Brazilian cohort of children with Alagille syndrome (ALGS). Methods Multicenter retrospective cohort study of children with ALGS. Descriptive statistics summarized clinical data.
Elisa Carvalho, Gilda Porta, Irene Kazue Miura, Cristina Helena Targa Ferreira, Luciana Rodrigues Silva, Natascha Silva Sandy, Eleonora Druve Tavares Fagundes, Eliene Oliveira, Aline Falleiros Freitas, Adriana Maria Alves de Tommaso, Regina Sawamura, Melina Utz Melere, Sandra Maria Goncalves Vieira, Renata Belém Pessoa de Melo Seixas, Isadora de Carvalho Trevizoli, Alexandre Rodrigues Ferreira, Adriana Porta Miche Hirschfeld, Renata Pereira Sustovich Pugliese, Cibele Dantas Ferreira Marques, Maria Angela Bellomo Brandão, Raquel Borges Pinto, Leticia Helena Caldas Lopes, Jussara Melo de Cerqueira Maia, Ana Cristina Vieira de Melo, Carolina Sores Silva, Luiza Salgado Nader, Maria Tereza Guiotti, Roberta Vacari Alcântara, Leonardo Resende, Bruno Pereira Ribeiro Rocha, Nilza Maria Medeiros Perin, Adriana Teixeira Rodrigues, Vera Lúcia Baggio Danesi, Gabriel Hessel, Themis Reverbel Silveira   +34 more
wiley   +1 more source

Human neutrophils express the alpha 1-antitrypsin gene and produce alpha 1-antitrypsin [PDF]

Blood, 1991
The potent serine protease, neutrophil elastase (NE), is stored in neutrophil azurophilic granules, where it is available to degrade phagocytosed material and can be released by the cell to assist in tissue migration and help clear tissue debris.
R M, du Bois, J F, Bernaudin, P, Paakko, R, Hubbard, H, Takahashi, V, Ferrans, R G, Crystal   +6 more
openaire   +3 more sources

Multiomics Insights Into AL Amyloidosis

Medicine Bulletin, EarlyView.
ABSTRACT Light chain amyloidosis is a systemic or localized protein conformational disorder triggered by misfolded immunoglobulin light chains, leading to amyloid fibril deposition. The disease is characterized by multiorgan involvement and delayed diagnosis, contributing to poor prognosis and high mortality rates.
Zixuan Zhang, Ziru Huang, Haoxiang Tang, Xianrun Pan, Rong Wang, Dingding Zhang, Jian Huang   +6 more
wiley   +1 more source

The first report of two cases of fatal liver injury due to anti-tuberculosis drugs in the presence of alpha-1 antitrypsin deficiency

International Journal of Mycobacteriology, 2017
Tuberculosis (TB) is a major global health problem. Awareness of liver injury due to anti-TB therapy is vital because fulminant hepatic failure is a devastating and often fatal condition without liver transplantation.
Shahram Habibzadeh, Jafar Mohammad Shahi, Hassan Ghobadi, Nasrollah Maleki   +3 more
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

IgE‐Binding Bacterial Components Not Yet Documented in the Allergen Databases and Their Allergenic Mechanisms: An EAACI Position Paper

Allergy, EarlyView.
ABSTRACT Among bacteria that are associated with the development and/or exacerbation of allergic/atopic diseases, several have been described to produce IgE‐binding components. However, only one bacterial protein, Bac s 1, is currently listed in the official database of the World Health Organization/International Union of Immunological Societies (WHO ...
Uta Jappe, Marua Abu Risha, Ioana Agache, Claus Bachert, Barbara Bröker, Riccardo Castagnoli, Gabriele Gadermaier, Richard E. Goodman, Amir Guemari, Christiane Hilger, Alain Jacquet, Sabine Kespohl, Ludger Klimek, Annette Kuehn, Jonas Lidholm, Vera Mahler, Markus Ollert, Thomas A. Platts‐Mills, Monika Raulf, Peter Schmid‐Grendelmeier, Frieder Schmiedeke, Marianne van Hage, Joana Vitte, Josefina Zakzuk, Anna Pomés   +24 more
wiley   +1 more source

Why has it been so difficult to prove the efficacy of alpha-1-antitrypsin replacement therapy? Insights from the study of disease pathogenesis

Drug Design, Development and Therapy, 2011
Jennifer A Dickens, David A LomasDepartment of Medicine, University of Cambridge, Cambridge Institute for Medical Research, Wellcome Trust/MRC Building, Cambridge, UKAbstract: Alpha-1-antitrypsin is the most abundant circulating protease inhibitor. It is
Dickens JA, Lomas DA
doaj  

Protective role of the alpha-1-antitrypsin in intervertebral disc degeneration

Journal of Orthopaedic Surgery and Research, 2021
Background Intervertebral disc degeneration is a complex disease with high prevalence. It suggests that cell death, senescence, and extracellular matrix degradation are involved in the pathogenesis. Alpha-1 antitrypsin (AAT), a serine protease inhibitor,
Weikun Liu, Yanfu Wang
doaj   +1 more source