Alpha 1 Antitrypsin
Mostrando 1-12 de 279 artigos, teses e dissertações.
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1. Irritable bowel syndrome in Indonesian adolescents
Abstract Objective: Irritable bowel syndrome is a frequent functional gastrointestinal disorder. The aims of this study were to investigate its epidemiology, focusing on the role of intestinal mucosal integrity and to evaluate the impact on the quality of life. Methods: A community-based survey applying a comparative cross sectional approach was conducted
J. Pediatr. (Rio J.). Publicado em: 2021-04
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2. Intravitreal neurodegenerative and inflammatory mediators in proliferative diabetic retinopathy
RESUMO Objetivo: Comparar as concentrações intravítreas de mediadores celulares envolvidos na neurodegeneração, inflamação e angiogênese em pacientes com retinopatia diabética proliferativa e outras doenças vítreo-retinianas. Métodos: Um ensaio imunomagnético foi utilizado para medir os níveis vítreos do fator derivado do epitélio pigmentar
Arq. Bras. Oftalmol.. Publicado em: 08/04/2019
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3. Nocardia nova causing empyema necessitatis afterlung re-transplantation: a case report
Abstract: We report herein a case of thoracic infection due to Nocardia nova following lung re-transplantation performed for emphysema related to alpha-1-antitrypsin deficiency. The infection extended from the lung into the pleural space, thoracic wall, and mediastinum, presenting as pericarditis and empyema necessitatis. Nocardia nova was identified by 16S
Rev. Soc. Bras. Med. Trop.. Publicado em: 2016-08
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4. In silico analysis of alpha1-antitrypsin variants: the effects of a novel mutation
Alpha1-antitrypsin (AAT) is a highly polymorphic protein with more than 120 variants that are classified as normal (normal protein secretion), deficient (reduced circulating AAT level caused by defective secretion) or null (no protein secretion). Alpha1-antitrypsin deficiency, one of the most common genetic disorders, predisposes adults to pulmonary emphysem
Genetics and Molecular Biology. Publicado em: 29/10/2010
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5. Prevalence of the serpin peptidase inhibitor (alpha-1-antitrypsin) PI*S and PI*Z alleles in Brazilian children with liver disease
Serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1 (SERPINA1) deficiency is one of the main genetic causes related to liver disease in children. In SERPINA1 deficiency the most frequent SERPINA1 alleles found are the PI*S and PI*Z alleles. We used the polymerase chain reaction and the amplification created restriction site (A
Publicado em: 2010
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6. Evaluation of the ultrastructure and of the movement of cilia in children with chronic and repetition pneumopathies without a defined diagnosis / Avaliação da ultraestrutura e do movimento ciliar em crianças com pneumopatias crônicas e de repetição se diagnóstico definido
INTRODUCTION: Primary ciliary dyskinesia (PCD) is a genetic disorder of the ultrastructure and function of mobile cilia, with consequent impairment of mucociliary clearance, leading to upper and lower airways respiratory infection and infertility. The diagnosis, based on ultrastructure evaluation or genetic scan, is performed according to patient selection a
Publicado em: 2010
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7. Alpha-1 antitrypsin gene polymorphism in Chronic Obstructive Pulmonary Disease (COPD)
Alpha-1-antitrypsin (AAT) plays an important role in the pathogenesis of emphysema, the pathological lesion underlying the majority of the manifestations of Chronic Obstructive Pulmonary Disease (COPD). In this study we tested the hypothesis that common AAT polymorphisms influence the risk of developing COPDs. We investigated PiM1 (Ala213Val), PiM2 (Arg101Hi
Genetics and Molecular Biology. Publicado em: 18/12/2009
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8. Identification of a rare p.G320R alpha-1-antitrypsin variant in emphysema and lung cancer patients
The alpha-1-antitrypsin (A1AT) gene is highly polymorphic, with more than 100 genetic variants identified of which some can affect A1AT protein concentration and/or function and lead to pulmonary and/or liver disease. This study reports on the characterization of a p.G320R variant found in two patients, one with emphysema and the other with lung cancer. This
Genetics and Molecular Biology. Publicado em: 11/12/2009
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9. Polymorphism of alpha-1-antitrypsin in hematological malignancies
Alpha-1-antitrypsin (AAT) or serine protease inhibitor A1 (SERPINA1) is an important serine protease inhibitor in humans. The main physiological role of AAT is to inhibit neutrophil elastase (NE) released from triggered neutrophils, with an additional lesser role in the defense against damage inflicted by other serine proteases, such as cathepsin G and prote
Genetics and Molecular Biology. Publicado em: 23/10/2009
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10. Prevalence of the serpin peptidase inhibitor (alpha-1-antitrypsin) PI*S and PI*Z alleles in Brazilian children with liver disease
Serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1 (SERPINA1) deficiency is one of the main genetic causes related to liver disease in children. In SERPINA1 deficiency the most frequent SERPINA1 alleles found are the PI*S and PI*Z alleles. We used the polymerase chain reaction and the amplification created restriction site (A
Genetics and Molecular Biology. Publicado em: 2008
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11. SPI2 GENE POLIMORPHISM IN RECURRENT AIRWAY OBSTRUCTION AND INFLAMMATORY AIRWAY DISEASE IN THOROUGHBRED HORSES / POLIMORFISMO DO GENE SPi2 NA OBSTRUÇÃO RECORRENTE DAS VIAS AÉREAS E NA DOENÇA INFLAMATÓRIA DAS VIAS AÉREAS EM CAVALOS PURO SANGUE DE CORRIDA
A obstrução recorrente das vias aéreas (ORA) e a doença inflamatória das vias aéreas (DIVA) são doenças de alta prevalência e economicamente importantes em cavalos atletas. A ORA é considerada uma enfermidade multifatorial por apresentar componentes ambientais e genéticos em sua fiosiopatologia. O presente trabalho teve por objetivo determinar a p
Publicado em: 2008
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12. Alpha-1-antitrypsin-Pittsburgh. A potent inhibitor of human plasma factor XIa, kallikrein, and factor XIIf.
Alpha-1-antitrypsin-Pittsburgh is a human variant that resulted from a point mutation in the plasma protease inhibitor, alpha 1-antitrypsin (358 Met----Arg). This defect in the alpha 1-antitrypsin molecule causes it to have greatly diminished anti-elastase activity but markedly increased antithrombin activity. In this report, we demonstrate that this variant