Results 91 to 100 of about 15,020 (214)

Portuguese consensus document for the management of alpha-1-antitrypsin deficiency

Pulmonology, 2018
Alpha-1-antitrypsin deficiency (AATD) is a genetic autosomal codominant disorder caused by mutations in SERPINA1 gene. It is one of the most prevalent genetic disorders, although it remains underdiagnosed. Whereas at international level there are several
A.P. Lopes, M.A. Mineiro, F. Costa, J. Gomes, C. Santos, C. Antunes, D. Maia, R. Melo, M. Canotilho, E. Magalhães, I. Vicente, C. Valente, B.G. Gonçalves, B. Conde, C. Guimarães, C. Sousa, J. Amado, M.E. Brandão, M. Sucena, M.J. Oliveira, S. Seixas, V. Teixeira, L. Telo   +22 more
doaj   +1 more source

From the Proteome to Therapeutics: A Multi‐Database Approach to Drug Discovery in Periodontitis—An Exploratory Pilot Study

Journal of Clinical Periodontology, Volume 53, Issue 7, Page 990-1004, July 2026.
ABSTRACT Introduction This explanatory pilot study presents a workflow to identify approved drugs, which could be repurposed for periodontitis therapy using salivary proteomics combined with drug‐target database screening. Methods Proteomic analyses of saliva using LC–MS/MS were conducted in two independent settings: a cohort (sub‐study I, N = 187) and
Taisir Bozo, Annette Murr, Birte Holtfreter, Sebastian‐Edgar Baumeister, Peter Meisel, Uwe Völker, Werner Weitschies, Henry Völzke, Philipp Kanzow, Elke Hammer, Manuela Gesell Salazar, Thomas Kocher   +11 more
wiley   +1 more source

Exacerbations, health status and sibling pair comparisons in severe Alpha-1-Antitrypsin Deficiency

, 2007
Alpha-1-Antitrypsin Deficiency (AATD) is a risk factor for the development of early-onset emphysema and airflow obstruction. The current work defines exacerbations, lung function and health status in these patients including sibling pairs.
Needham, Michelle
core  

Integrative Multi‐Omics Analysis Elucidates the Progressive Disease Landscape and Reveals Dynamic Protein Biomarkers for MASLD Surveillance

The FASEB Journal, Volume 40, Issue 12, 30 June 2026.
Integrated transcriptomic, single‐cell, pseudotime, cell–cell communication, human tissue, and in vivo analyses define a dynamic four‐gene axis across the MASLD continuum. Progressive CYP2C19 downregulation and AKR1B10, COL1A2, and SPP1 upregulation link metabolic dysfunction to disease progression, while AKR1B10 knockdown or CYP2C19 overexpression ...
Kejun Liu, Bozhi Zhang, Yezhen Tang, Zhenyao Tan, Yang Bu, Yongxue Lv   +5 more
wiley   +1 more source

Treatment of lung disease in alpha-1 antitrypsin deficiency: a systematic review

, 2017
Ross G Edgar,1,2 Mitesh Patel,3 Susan Bayliss,4 Diana Crossley,2,5 Elizabeth Sapey,2,5 Alice M Turner4,6 1Therapy Services, University Hospitals Birmingham NHS Foundation Trust, Birmingham, UK; 2Institute of Inflammation and Ageing, University of ...
Edgar RG, Crossley D, Bayliss S, Patel M, Sapey E, Turner AM   +5 more
core  

Migraine Causality in Alpha-1 Antitrypsin Deficiency

Düzce Tıp Fakültesi Dergisi
Alpha1-antitrypsin (A1AT) is an anti-inflammatory mediator with antiprotease activity associated with anti-inflammatory and immunomodulatory effects in various inflammatory conditions.
Esra Demir Unal
doaj   +1 more source

Alpha-1 proteinase inhibitors for the treatment of alpha-1 antitrypsin deficiency: safety, tolerability, and patient outcomes

, 2015
Sanjay H Chotirmall,1 Mazen Al-Alawi,2 Thomas McEnery,2 Noel G McElvaney2 1Lee Kong Chian School of Medicine, Nanyang Technological University, Singapore; 2Department of Respiratory Medicine, Beaumont Hospital, Dublin, Republic of Ireland Abstract ...
Chotirmall SH, McEnery T, McElvaney NG, Al-Alawi M   +3 more
core  

Alpha-1 Antitrypsin Deficiency Screening Using Serum Protein Electrophoresis [PDF]

Background: Alpha-1 antitrypsin is encoded by the polymorphic SERPINA1 gene, with pathogenic variants causing alpha-1 antitrypsin deficiency.
García-Zafra, Laura, García-Gutiérrez, Almudena, del Castillo-Díez, Enrique, Perales-Afán, Juan José, Torralba-Cabeza, Miguel Ángel, Menao, Sebastián   +5 more
core   +1 more source

Alpha-1 antitrypsin deficiency-associated panniculitis: a case report

Zdravniški Vestnik
Alpha-1 antitrypsin deficiency is a hereditary disorder with predominantly pulmonary but also extrapulmonary manifestations. In the skin, it is associated with panniculitis, a necrotizing neutrophilic inflammation in the subcutis. Clinically, it presents
Špela But, Maja Jerše, Pij Bogomir Marko   +2 more
doaj   +1 more source

Alpha-1 antitrypsin deficiency in a French General Hospital: fortuitous detection rather than efficient screening

, 2018
Introduction: We studied the characteristics of the screening procedure for alpha-1 antitrypsin at Nevers Hospital (France), together with the performance of serum protein gel electrophoresis for the fortuitous detection of patients with deficiency ...
Kherouf, Hakim; Centre Hospitalier de l'Agglomération de Nevers - Laboratoire de biologie médicale, 1, boulevard de l'Hôpital, 58000 Nevers, France, Bourgerette, Evelyne; Centre Hospitalier de l'Agglomération de Nevers - Laboratoire de biologie médicale, 1, boulevard de l'Hôpital, 58000 Nevers, France, N'Guyen, Tu; Centre Hospitalier de l'Agglomération de Nevers - Département de l'Information médicale, 1, boulevard de l'Hôpital, 58000 Nevers, France, de Faverges, Geoffroy; Centre Hospitalier de l'Agglomération de Nevers - Service de Pneumologie, 1, boulevard de l'Hôpital, 58000 Nevers, France, Moquet, Olivier; Centre Hospitalier de l'Agglomération de Nevers - Laboratoire de biologie médicale, 1, boulevard de l'Hôpital, 58000 Nevers, France, Dumont, Pierre; Centre Hospitalier de l'Agglomération de Nevers - Laboratoire de biologie médicale, 1, boulevard de l'Hôpital, 58000 Nevers, France   +5 more
core   +1 more source