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1.
Ned Tijdschr Geneeskd ; 1652021 12 21.
Artigo em Holandês | MEDLINE | ID: mdl-35129890

RESUMO

Non-bacterial thrombotic endocarditis (NBTE), also known as non-infective endocarditis, is a rare condition characterised by formation of sterile fibrin and platelet depositions on heart valves. NBTE is commonly seen in advanced malignancies, auto-immune disorders and conditions associated with a hypercoagulable state. Patients are often asymptomatic. Clinical manifestations are a result of a multifocal systemic embolisms in brain, spleen, kidney, skin or extremities. Laboratory tests and blood cultures should be taken in the work-up to differentiate with an infectious endocarditis. Furthermore, a transthoracic or transoesophageal echocardiography should be performed. Often diagnosis can only be based on clinical signs and symptoms, without confirmation by imaging. Therapy includes anticoagulation with low molecular weight heparin or non-vitamin K antagonists, treating the underlying disease and surgical intervention. In this article, we present two cases and argument to include NBTE in the differential diagnoses when systemic embolisms occur in patients with malignancies of auto-immune disorders.


Assuntos
Endocardite não Infecciosa , Neoplasias , Coagulação Sanguínea , Diagnóstico Diferencial , Ecocardiografia Transesofagiana , Endocardite não Infecciosa/complicações , Endocardite não Infecciosa/diagnóstico , Humanos , Neoplasias/diagnóstico
2.
Ned Tijdschr Geneeskd ; 154: A1342, 2010.
Artigo em Holandês | MEDLINE | ID: mdl-20619026

RESUMO

A seventy-year-old woman was admitted to hospital with a Staphylococcus aureus respiratory tract infection. She had a history of extensive bronchiectasis and allergic bronchopulmonary aspergillosis (ABPA). Cystic fibrosis (CF) was suspected and cystic fibrosis transmembrane conductance regulator (CFTR) gene analysis showed F508del and R117H-7T mutations. In these mutations there is residual activity in the chloride channel in the cell membrane coded by the CFTR gene. This results in a much milder disease pattern varying from no disease at all to isolated organ disease. This type of disease is known as non-classical cystic fibrosis. In our patient the diagnosis of cystic fibrosis was made exceptionally late in life.


Assuntos
Regulador de Condutância Transmembrana em Fibrose Cística/genética , Fibrose Cística/diagnóstico , Fibrose Cística/genética , Idoso , Feminino , Humanos , Mutação
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