Results 81 to 90 of about 459,657 (249)

PERCC1‐associated enteropathy: Diagnostic challenges and enteral autonomy achieved with teduglutide

JPGN Reports, EarlyView.
Abstract Congenital diarrheas and enteropathies (CODE) are rare inherited disorders characterized by early‐onset intractable diarrhea. Though progress has been made in elucidating the genetic basis of CODE, much remains to be discovered. Another challenge is the lack of curative therapies—treatment is primarily supportive including enteral and ...
Angela Tran, Vivien Nguyen, Phuong Huynh
wiley   +1 more source

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

Hepatic-targeted RNA interference provides robust and persistent knockdown of alpha-1 antitrypsin levels in ZZ patients.

Journal of Hepatology, 2018
BACKGROUND & AIMS Alpha-1 antitrypsin deficiency (AATD) is a genetic disorder causing pulmonary and liver disease. The PiZ mutation in AAT (SERPINA1) results in mis-folded AAT protein (Z-AAT) accumulating in hepatocytes, leading to fibrosis and cirrhosis.
A. Turner, J. Stolk, R. Bals, J. Lickliter, J. Hamilton, D. Christianson, B. Given, J. Burdon, R. Loomba, J. Stoller, J. Teckman   +10 more
semanticscholar   +1 more source

Alpha 1 “Hereditary Emphysema” Experience: A Patient–Physician Perspective

Pulmonary Therapy, 2020
This article is co-authored by a patient living with alpha-1 antitrypsin deficiency, and her treating physician. The commentary article describes the patient’s experience of the diagnosis and treatment process.
Katie Moyer, Kamyar Afshar
doaj   +1 more source

When protein losing enteropathy persists: A case series of viral and lymphatic‐associated etiologies

JPGN Reports, EarlyView.
Abstract Protein‐losing enteropathy (PLE) is a rare condition that is characterized by loss of plasma protein in the intestines leading to hypoproteinemia with subsequent peripheral edema and possibly anasarca. The pathophysiology of PLE varies depending on the etiology and involves either intestinal mucosal injury or lymphatic system alterations ...
Natalie Jennings, Antonia C. Rovira, Pamela Castillo Rocha, Janelle Torres, Claudia M. Salgado, Miguel Reyes‐Múgica, Richard N. Arboleda, Fatima S. Hussain   +7 more
wiley   +1 more source

Alpha 1 antitrypsin distribution in an allergic asthmatic population sensitized to house dust mites

Clinical and Translational Allergy, 2018
Background and objective Severe alpha1 antitrypsin deficiency has been clearly associated with pulmonary emphysema, but its relationship with bronchial asthma remains controversial. Some deficient alpha 1 antitrypsin (AAT) genotypes seem to be associated
I. Suárez-Lorenzo, F. Rodríguez de Castro, D. Cruz-Niesvaara, E. Herrera-Ramos, C. Rodríguez-Gallego, T. Carrillo-Diaz   +5 more
doaj   +1 more source

SERPINA1 mRNA as a Treatment for Alpha-1 Antitrypsin Deficiency

Journal of Nucleic Acids, 2018
Alpha-1-antitrypsin (AAT) deficiency is a genetic disorder that produces inactive/defective AAT due to mutations in the SERPINA1 gene encoding AAT.
B. Connolly, C. Isaacs, Lei Cheng, Kirtika H. Asrani, Romesh R. Subramanian   +4 more
semanticscholar   +1 more source

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

High BMI and COPD Outcomes in Alpha-1 Antitrypsin DeficiencyTake-Home Points

CHEST Pulmonary
Background: Elevations in BMI impact morbidity in patients with COPD in general, but little is known about its impact in patients with COPD due to alpha-1 antitrypsin deficiency (AATD-COPD).
Michael A. Campos, MD, Leonard Riley, MD, Jorge Lascano, MD, Brian Garnet, MD, Robert Sandhaus, MD, PhD   +4 more
doaj   +1 more source