Results 71 to 80 of about 36,766 (231)

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  

Alpha-1 Antitrypsin Substitution for Extrapulmonary Conditions in Alpha-1 Antitrypsin Deficient Patients [PDF]

Chronic Obstructive Pulmonary Diseases: Journal of the COPD Foundation, 2018
Alpha-1 antitrypsin deficiency (AATD) is a genetic disorder which most commonly manifests as pulmonary emphysema. Accordingly, alpha-1 antitrypsin (AAT) augmentation therapy aims to reduce the progression of emphysema, as achieved by life-long weekly slow-drip infusions of plasma-derived affinity-purified human AAT.
Boris M, Baranovski, Ronen, Schuster, Omer, Nisim, Ido, Brami, Yotam, Lior, Eli C, Lewis   +5 more
openaire   +2 more sources

Oxymatrine Inhibits Epithelial‐Mesenchymal Transition to Alleviate Airway Remodeling in Chronic Obstructive Pulmonary Disease by Suppressing the TGF‐β1/Smad Pathway

The Kaohsiung Journal of Medical Sciences, EarlyView.
ABSTRACT This study explored the therapeutic efficacy of oxymatrine (OMT, C15H24N2O2) in a murine model of cigarette smoke (CS)‐induced chronic obstructive pulmonary disease (COPD) and elucidated its underlying mechanisms. A COPD model was established in mice through prolonged exposure to CS, followed by intraperitoneal administration of OMT (50 mg/kg)
Shuang Zhou, Ju‐Xiang Zhu, Jing Li
wiley   +1 more source

Comparative evaluation of serum alpha-1antitrypsin levels in patients with oral squamous cell carcinoma and in subjects with tobacco habit without carcinoma

Journal of Family Medicine and Primary Care, 2019
Aim/Objectives: To evaluate serum levels of Alpha-1 antitrypsin in patients with oral squamous cell carcinoma and compare them with that of healthy subjects with and without tobacco habits. Materials and Method: The sample of 83 subjects was divided into
Upasana S Ahuja, Nidhi Puri, Anjana Bagewadi, Vaishali Keluskar, Anshuman Ahuja, Harkanwal P Singh   +5 more
doaj   +1 more source

Cardiovascular risk in patients with alpha-1-antitrypsin deficiency [PDF]

, 2017
Background: Alpha-1-antitrypsin deficiency (AATD) is a rare inherited condition caused by mutations of the SERPINA1 gene that is associated with the development of a COPD like lung disease.
Annika Karch, Armin Koch, Björn Kleibrink, Claus F. Vogelmeier, Frank Biertz, Hans-Ulrich Kauczor, Helmut Teschler, on behalf of the COSYCONET investigators, Robert Bals, Rudolf A. Jörres, Sabina Janciauskiene, Sebastian Fähndrich, Timm Greulich, Tobias Welte   +13 more
core   +2 more sources

Protein glycosylation in lung cancer from a mass spectrometry perspective

Mass Spectrometry Reviews, EarlyView.
Abstract Lung cancer is a severe disease for which better diagnostic and therapeutic approaches are urgently needed. Increasing evidence implies that aberrant protein glycosylation plays a crucial role in the pathogenesis and progression of lung cancer.
Mirjam Balbisi, Simon Sugár, Lilla Turiák   +2 more
wiley   +1 more source

Mass Spectrometry Structural Proteomics Enabled by Limited Proteolysis and Cross‐Linking

Mass Spectrometry Reviews, EarlyView.
ABSTRACT The exploration of protein structure and function stands at the forefront of life science and represents an ever‐expanding focus in the development of proteomics. As mass spectrometry (MS) offers readout of protein conformational changes at both the protein and peptide levels, MS‐based structural proteomics is making significant strides in the
Haiyan Lu, Zexin Zhu, Lauren Fields, Hua Zhang, Lingjun Li   +4 more
wiley   +1 more source

Alpha 1 antitrypsin to treat lung disease in alpha 1 antitrypsin deficiency: recent developments and clinical implications

International Journal of COPD, 2018
Kenneth R Chapman,1 Joanna Chorostowska-Wynimko,2 A Rembert Koczulla,3 Ilaria Ferrarotti,4 Noel G McElvaney5 1Department of Medicine, University of Toronto, Toronto, ON, Canada; 2Department of Genetics and Clinical Immunology, National Institute of ...
Chapman KR, Chorostowska-Wynimko J, Koczulla AR, Ferrarotti I, McElvaney NG   +4 more
doaj  

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

Alpha-1 Antitrypsin Augmentation Therapy

COPD: Journal of Chronic Obstructive Pulmonary Disease, 2013
The therapy of alpha-1 antitrypsin deficiency (AATD) is an example of a medical triumph over a common hereditary disease. Based on the understanding of the pathogens of the disease as a deficiency in liver production of alpha-1 antitrypsin (AAT) resulting from inherited genetic variation in both parental AAT genes, the knowledge that A1AT functions ...
Mark D, Wewers, Ronald G, Crystal
openaire   +2 more sources