Results 91 to 100 of about 30,834,870 (206)

Individualized lung function trends in alpha-1-antitrypsin deficiency: a need for patience in order to provide patient centered management?

, 2016
Robert A Stockley,1 Ross G Edgar,1 Anilkumar Pillai,1 Alice M Turner2 1Department of Lung Function and Sleep, University Hospitals Birmingham NHS Foundation Trust, 2Department of Inflammation and Ageing, University of Birmingham, Edgbaston, Birmingham ...
Edgar RG, Pillai A, Turner AM, Stockley RA   +3 more
core  

Alpha-1 antitrypsin deficiency and Pi*S and Pi*Z SERPINA1 variants are associated with asthma exacerbations

Pulmonology
Introduction and objectives Asthma is a chronic inflammatory disease of the airways. Asthma patients may experience potentially life-threatening episodic flare-ups, known as exacerbations, which may significantly contribute to the asthma burden. The Pi*S
Elena Martín-González, José M. Hernández-Pérez, José A. Pérez Pérez, Javier Pérez-García, Esther Herrera-Luis, Ruperto González-Pérez, Orelvis González-González, Elena Mederos-Luis, Inmaculada Sánchez-Machín, Paloma Poza-Guedes, Olaia Sardón, Paula Corcuera, María J. Cruz, Francisco J. González-Barcala, Carlos Martínez-Rivera, Joaquim Mullol, Xavier Muñoz, José M. Olaguibel, Vicente Plaza, Santiago Quirce, Antonio Valero, Joaquín Sastre, Javier Korta-Murua, Victoria del Pozo, Fabián Lorenzo-Díaz, Jesús Villar, María Pino-Yanes, Mario A. González-Carracedo   +27 more
doaj   +1 more source

Evaluating a Polygenic Risk Score for Hepatocellular Carcinoma in Multiethnic Cirrhosis Patients in Texas

Cancer Medicine, Volume 15, Issue 10, October 2026.
ABSTRACT Background and Aims Genome‐wide association studies (GWAS) that were previously conducted in European and Asian cohorts have identified numerous genetic risk factors for hepatocellular carcinoma (HCC) and its precursors and risk factors. A polygenic risk score (PRS) composed of these key SNPs for HCC may be useful for risk stratification in ...
Priya B. Shetty, Nia Choi, Hao T. Duong, Fasiha Kanwal, Saira Khaderi, Amit G. Singal, Sumeet K. Asrani, Michelle Luster, Abeer Al‐Sarraj, Ashwin Rao, Jinyoung Byun, Christopher I. Amos, Hashem B. El‐Serag, Aaron P. Thrift   +13 more
wiley   +1 more source

Deficiency of α-1-antitrypsin influences systemic iron homeostasis

, 2013
Andrew J Ghio,1 Joleen M Soukup,1 Judy H Richards,1 Bernard M Fischer,2 Judith A Voynow,2 Donald E Schmechel31US Environmental Protection Agency, Chapel Hill, NC, USA; 2Division of Pediatric Pulmonary Medicine, Department of Pediatrics,3Joseph and ...
Soukup JM, Voynow JA, Fischer BM, Richards JH, Schmechel DE, Ghio AJ   +5 more
core  

Acute Neurological Manifestations in COVID‐19 Are Associated With Complement Activation and Glia‐Promoted Neuroinflammation

Journal of Medical Virology, Volume 98, Issue 10, October 2026.
ABSTRACT Pathophysiological mechanisms of neurological manifestations in COVID‐19 are not fully known yet. In this case‐control study, proteomic analysis was used to characterize cerebrospinal fluid (CSF) samples from COVID‐19 patients with acute neurological manifestations primarily categorized as: isolated refractory headache (n = 12), encephalopathy
Nicole Lardini Freitas, Yago Côrtes Pinheiro Gomes, Fábio César Sousa Nogueira, Juliana Echevarria‐Lima, João Victor Carvalho Deus, Carlos Otávio Brandão, Cristiane Nascimento Soares, Marcus Tulius Teixeira Silva, Otávio Melo Espíndola   +8 more
wiley   +1 more source

Mid‐upper arm circumference, steatosis indices, and elastography for screening liver steatosis in children with overweight/obesity: A prospective cross‐sectional study

Journal of Pediatric Gastroenterology and Nutrition, Volume 83, Issue 4, Page 616-623, October 2026.
Abstract Objectives Metabolic dysfunction–associated steatotic liver disease (MASLD) is common in children, and practical screening approaches are needed in populations with overweight/obesity. We aimed to evaluate mid‐upper arm circumference (MUAC) as a simple marker for ultrasonography (US)‐detected liver steatosis (LS) in children with overweight ...
Selcuk Teke, Tugba Cavis, Yasin Maruf Ergen, Birce Izgi Akcay, Edibe Gozde Basaran, Necati Balamtekin   +5 more
wiley   +1 more source

The use of real-time PCR for the diagnosis of Z gene Pi mutation in patients with alpha-1 antitrypsin deficiency

Якутский медицинский журнал
The aim of this study is to develop a method for diagnosing PiZ mutation associated with alpha-1 antitrypsin deficiency using real-time PCR technology.A simple method is proposed for detecting one of the most frequent mutations of the Pi gene PiZ ...
E. V. Tapiev, A. Yu. Asanov, O. I. Simonova, A. L. Sukhomyasova, K. K. Pavlova, I. Yu. Chebelyaev   +5 more
doaj   +1 more source

Post‐Tuberculosis Lung Disease: Clinicopathologic Insights, Diagnosis, Prevention, and Management

MedComm, Volume 7, Issue 10, October 2026.
A comprehensive review on post‐tuberculosis lung disease (PTLD) addresses the epidemiology, pathogenesis, clinical phenotypes and management, risk factors, prevention and systems approach, and future directions. This review provides standardized definitions, mechanistic insights and biomarkers of PTLD development, and clinical strategies for PTLD ...
Radha Gopalaswamy, Selvakumar Subbian
wiley   +1 more source

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

EvoMut: A computational framework for engineering oxidative stability in proteins

Protein Science, Volume 35, Issue 10, October 2026.
Abstract Amino acid oxidation is a major cause of protein instability and loss of function in therapeutic and industrial settings. Although methionine, cysteine, tryptophan, tyrosine, histidine, lysine, and arginine residues are widely recognized as oxidation‐prone, only a subset of such residues is dominant functional hotspots, and not all are ...
Seyed Shahriar Arab, Chenlin Hsieh, Nathan E. Lewis   +2 more
wiley   +1 more source