https://repositoriobce.fepecs.edu.br/handle/123456789/1057 2026-04-12T07:14:33Z 2026-04-12T07:14:33Z Lacerda, Flávia Chaves Rodrigues, Iago Barbosa Pinto Martins, Rafael Rodrigues Melo, Amanda Teixeira de Ramos, Rafaela Silva Martins, Rosa Christiane Kill Leal https://repositoriobce.fepecs.edu.br/handle/123456789/1295 2024-09-11T06:00:19Z 2020-08-07T00:00:00Z

Título: Síndrome de Moünier-Kuhn: um relato de caso Autor(es): Lacerda, Flávia Chaves; Rodrigues, Iago Barbosa Pinto; Martins, Rafael Rodrigues; Melo, Amanda Teixeira de; Ramos, Rafaela Silva; Martins, Rosa Christiane Kill Leal Abstract: Introduction: Tracheobroncomegaly or Mounier-Kuhn syndrome is a rare disease, mainly observed in middle-aged men before the 5th decade of life, characterized by atrophy or absence of elastic fibers or smooth muscles of the trachea wall and main bronchi. dilation of these structures. Weakness of connective tissue, associated with inhalation of air pollutants and cigarette smoke, is believed to be the major factors in the development of this syndrome. Diagnosis may be occasional in asymptomatic individuals, but often with recurrent respiratory infections and bronchiectasis. Description: A.H.A.G., 65, male, single, white. Reported chronic cough with increased frequency 10 days ago associated with an increase in sputum, currently greenish. He also complained of uncontrolled daily irregular fever, dyspnea on exertion, and night sweats. Patient mentions a diagnosis of bronchiectasis, but has not adhered to HRT ambulatory follow-up since 2015. Conclusion: Mounier-Kuhn syndrome is characterized by increased diameter of the tracheaand main bronchi associated with reduced mucociliary clearance, which leads to the individual to develop respiratory infections frequently. The diagnosis is made by chest CT. The treatment is only performed in the symptomatic, aiming to treat the triggering factor of decompensation. Editor: Escola Superior de Ciências da Saúde Tipo: Artigo de Periódico

2020-08-07T00:00:00Z Leite, Renata Gizani de Moura Rose, Sara Cardoso Paes Viana, Amália Maria de Amorim Mello, Evandro Sobroza de Trevisoli, Natália Carvalho Carneiro, Marcos de Vasconcelos Mendes, Liliana Sampaio Costa https://repositoriobce.fepecs.edu.br/handle/123456789/1058 2024-05-07T06:00:13Z 2022-11-22T00:00:00Z

Título: Hepatocarcinoma em portador de Deficiência de Alfa-1 Antitripsina: relato de caso Autor(es): Leite, Renata Gizani de Moura; Rose, Sara Cardoso Paes; Viana, Amália Maria de Amorim; Mello, Evandro Sobroza de; Trevisoli, Natália Carvalho; Carneiro, Marcos de Vasconcelos; Mendes, Liliana Sampaio Costa Abstract: Alpha-1 antitrypsin deficiency is an autosomal recessive genetic disorder in which there are deficiency alleles at the protease inhibitor (Pi) locus, located on the long arm of chromosome 14. Among all the variants related to clinical disease, the Z mutation is the most common and derives from the substitution of glutamic acid for lysine at position 342 of the SERPINA1 gene. In the liver, accumulation of the mutant protein in hepatocytes can lead to neonatal cholestasis, chronic liver disease, liver cirrhosis, and hepatocellular carcinoma. The diagnosis of the disease requires, in addition to measuring serum levels of alpha-1 antitrypsin, recognition of the clinical pattern, physical examination, family history, identification and interpretation of test results with phenotyping/genotyping. The report aims to address the case of a patient with alpha-1 antitrypsin deficiency who developed liver cirrhosis hepatocellular carcinoma identified in the liver explant, as well as to discuss the laboratory, clinical, imaging and histological findings, identifying the repercussion of the disease in individuals, complications and the best diagnostic and therapeutic approach. Editor: Escola Superior de Ciências da Saúde Tipo: Artigo de Periódico

2022-11-22T00:00:00Z