Results 91 to 100 of about 24,588 (237)

Alpha 1 antitrypsin deficiency in non cystic fibrosis bronchiectasis

Egyptian Journal of Chest Disease and Tuberculosis, 2013
Setting: It is important to identify manifestations of alpha1-antitrypsin deficiency (A1ATD) in bronchiectasis to improve care and outcome in these patients.
Mohamed Shahat Badawy, Atef Farouk El Qarn, Hamdy Ali Mohamadeen   +2 more
doaj   +1 more source

Fitusiran treatment modulates the ratio between alpha‐ and beta‐antithrombin isoforms

HemaSphere, Volume 10, Issue 5, May 2026.
Abstract Antithrombin (AT) circulates as two distinct isoforms, alpha‐ and beta‐AT, which differ in their glycosylation profiles; alpha‐AT is fully glycosylated at positions Asn128, Asn167, Asn187, and Asn224, whereas beta‐AT lacks Asn167 glycosylation.
Geneviève McCluskey, Hortense Maynadié, Delphine Borgel, Laurent Frenzel, Annie Harroche, Elsa Bianchini, Stephanie Roullet, Olivier D. Christophe, Cecile V. Denis, Caterina Casari, Peter J. Lenting   +10 more
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

Genetic diagnosis of α1-antitrypsin deficiency using DNA from buccal swab and serum samples [PDF]

, 2017
Background: α1-Antitrypsin deficiency (AATD) is associated with a high risk of developing lung and liver disease. Despite being one of the most common hereditary disorders worldwide, AATD remains under-diagnosed and prolonged delays in diagnosis are ...
Barrecheguren, Miriam, Belmonte, Irene, Esquinas López, Cristina, Miravitlles Fernández, Marc, Rodriguez-Frias, Francisco, Rodríguez, Esther   +5 more
core   +1 more source

Liver Gene Therapy in Fabry Disease Mice With Low Doses of rAAV2/8 Expressing a Codon‐Optimized hGLA cDNA Results in Long‐Term Disease Correction

Journal of Inherited Metabolic Disease, Volume 49, Issue 3, May 2026.
AAV‐mediated gene therapy targets the liver to produce and secrete into circulation functional α‐Gal A, which is taken up by tissues to reduce glycosphingolipid accumulation and prevent disease progression in juvenile Fabry mice, even at low AAV doses. ABSTRACT Fabry disease (FD) is an X‐linked lysosomal storage disorder caused by mutations in the GLA ...
Himanshi Saxena, Rossana Domenis, Giulia Romano, Jessica Biasizzo, Martina Ferro, Dania Ferino, Antonio Vicidomini, Alessandra Iaconcig, Giulia Bortolussi, Lorena Zentilin, Andrea Dardis, Andrés F. Muro   +11 more
wiley   +1 more source

Preliminary evidence of improved liver biomarkers in adolescents with obesity and suspected metabolic dysfunction‐associated steatotic liver disease treated with semaglutide: A case series

JPGN Reports, Volume 7, Issue 2, Page 349-354, May 2026.
Abstract Metabolic dysfunction‐associated steatotic liver disease (MASLD) affects 30%–40% of youth with obesity and lacks approved pharmacologic therapies. In this single‐center retrospective case series at a tertiary care safety‐net children's hospital, we evaluated five adolescents (mean age: 17.0 years; 100% Hispanic; 60% male; mean body mass index:
Rachel Schenker, Katya Fomenko, Fotini T. Mitsinikos, Alaina P. Vidmar   +3 more
wiley   +1 more source

Sweet syndrome with pulmonary involvement in a patient with myelodysplastic syndrome [PDF]

, 2020
We report a patient with Sweet syndrome involving the pulmonary system in the context of myelodysplastic syndrome. Although Sweet syndrome may involve a variety of organ systems, the pulmonary system is rarely affected and can result in poor clinical ...
Bordelon, Jenna, Ho, Jonhan, James, Alaina, Karunamurthy, Arivarasan, Kazlouskaya, Viktoryia, Khosravi, Hasan, Mizes, Alicia, Patton, Timothy   +7 more
core  

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

Hepatopulmonary syndrome as presentation of pediatric metabolic dysfunction‐associated steatohepatitis

JPGN Reports, Volume 7, Issue 2, Page 362-365, May 2026.
Abstract Childhood obesity is rising and leading to serious co‐morbidities, among which is metabolic dysfunction‐associated steatotic liver disease (MASLD) predisposing individuals to cirrhosis. We describe a young 11‐year‐old Hispanic male who presented with hepatopulmonary syndrome secondary to cirrhotic portal hypertension from metabolic dysfunction‐
Shruti Sakhuja, Stacey S. Beer, Kalyani R. Patel, Alexiss M. Williams, Nhu Thao Galvan, John A. Goss, Krupa R. Mysore   +6 more
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