Results 61 to 70 of about 24,588 (238)

α1-Antitrypsin deficiency. [PDF]

, 2016
α1-Antitrypsin deficiency (A1ATD) is an inherited disorder caused by mutations in SERPINA1, leading to liver and lung disease. It is not a rare disorder but frequently goes underdiagnosed or misdiagnosed as asthma, chronic obstructive pulmonary disease ...
Brantly, Mark L, Ferrarotti, Ilaria, Greene, Catherine M, Lomas, David A, Marciniak, Stefan J, McElvaney, Noel G, Stoller, James K, Teckman, Jeffrey   +7 more
core   +2 more sources

Exercise‐specific plasma proteomic signatures in racehorses: Candidates for training adaptation and peak load monitoring

Equine Veterinary Journal, EarlyView.
Abstract Background Racehorses undergo profound physiological changes with training and competition, but current biomarkers inadequately capture the complex molecular dynamics of exercise. This study aimed to identify novel plasma biomarkers of training adaptation and peak load using high‐throughput proteomics.
Jowita Grzędzicka, Bianka Świderska, Ewa Sitkiewicz, Izabela Dąbrowska, Olga Witkowska‐Piłaszewicz   +4 more
wiley   +1 more source

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

Practice and knowledge about diagnosis and treatment of alpha-1 antitrypsin deficiency in Spain and Portugal [PDF]

, 2016
BACKGROUND: Determining physicians’ awareness about alpha-1 antitrypsin (AAT) deficiency (AATD) may help to explain the discrepancy between the observed and expected number of patients diagnosed with this disease.
Cristina Esquinas, Esther Rodriguez, Marc Miravitlles, Maria Sucena, Miriam Barrecheguren, Sandra Fernandez   +5 more
core   +4 more sources

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

The utility of whole exome sequencing in diagnosing Wilson disease: A case report

JPGN Reports, EarlyView.
Abstract Wilson disease (WD) is an autosomal recessive disorder of copper metabolism caused by mutations in the ATP7B gene, resulting in toxic copper accumulation in the body. Diagnosis is typically based on biochemistries, including low serum ceruloplasmin and elevated 24‐h urine copper excretion, with Kayser–Fleischer (KF) rings being a supportive ...
Mihir J. Palan, Dana Simpson, Cheryl Miranda, Melanie Hakar, Henry C. Lin   +4 more
wiley   +1 more source

Serum alpha-1-antitrypsin level in Iraqi patients with coronary heart disease

مجلة مركز بحوث التقنيات الاحيائية, 2011
This study was designed to estimate the level of serum alpha -1- antitrypsin in patients with coronary heart disease. Patients were clinically subdivided into stable angina 25 patients, unstable angina30 patients and myocardial infarction 50 patients. A
Asmaa M. Salih
doaj   +1 more source

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

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  

Monocytes and Macrophages in Alpha-1 Antitrypsin Deficiency

International Journal of COPD, 2020
Kylie BR Belchamber,1 Eloise M Walker,1 Robert A Stockley,1 Elizabeth Sapey1,2 1Birmingham Acute Care Research Group, Institute of Inflammation and Ageing, University of Birmingham, Birmingham, UK; 2NIHR Clinical Research Facility Birmingham, University ...
Belchamber KBR, Walker EM, Stockley RA, Sapey E   +3 more
doaj