Assuntos
Ablação por Cateter , Miocardite , Taquicardia Ventricular , Humanos , Miocardite/complicações , Miocardite/diagnóstico , Fascículo Atrioventricular , Bloqueio de Ramo/diagnóstico , Bloqueio de Ramo/etiologia , Bloqueio de Ramo/cirurgia , Taquicardia Ventricular/diagnóstico , Taquicardia Ventricular/etiologia , Taquicardia Ventricular/cirurgia , EletrocardiografiaRESUMO
BACKGROUND: Abdominal aortic aneurysm (AAA) is a prevalent disease affecting around 5% of the population aged more than 65 years. The exact etiology and physiopathology of AAA still raises questions, and elective surgery is currently the only treatment option for this often progressive disease. In this study, we hypothesized and tested a pathophysiological model that depicts AAA as an inflammation-triggered autoimmune disease with remnant vessel wall peptide fragments as the antigen. METHODS: A pilot study with male AAA patients (n = 14) and male controls (n = 8) was conducted. In both study groups, peripheral blood monocytes and plasma were separated from whole blood by centrifugation. An ELISpot test was performed on cultured white blood cells for the presence of elastin-specific T-lymphocytes. An Enzyme-linked immuno sorbent assay (ELISA) was performed on plasma for the presence of elastin-specific IgG molecules. RESULTS: ELISpot interferon-gamma secretion in AAA (7.7 ± 9.5%) and control (4.6 ± 3.5%) and ELISA anti-elastin IgG titer in AAA (77.5 ± 17.8%) and control (78.2 ± 31.5%) were not significantly different (P = 0.94 and P = 0.55, respectively). Both results are expressed as a percentage relative to the respective positive and negative control. CONCLUSIONS: The results of our pilot study did not indicate a clear and invariable autoimmune process directed against remnant elastin peptide fragments. Further research into the model mechanics and a possible antigen is still necessary. In the mean time, the model as presented here already offers a pathophysiological framework to further research into the possible remnant epitope-driven AAA etiology.
Assuntos
Aneurisma da Aorta Abdominal/imunologia , Autoanticorpos/sangue , Autoimunidade , Elastina/imunologia , Epitopos , Imunoglobulina G/sangue , Fragmentos de Peptídeos/imunologia , Adulto , Idoso , Aneurisma da Aorta Abdominal/sangue , Estudos de Casos e Controles , Células Cultivadas , Elastina/metabolismo , ELISPOT , Humanos , Testes de Liberação de Interferon-gama , Masculino , Fragmentos de Peptídeos/metabolismo , Projetos Piloto , Linfócitos T/imunologia , Linfócitos T/metabolismoRESUMO
We report a toddler affected with Angelman syndrome and isovaleric acidemia (IVA). Such association was due to paternal uniparental isodisomy (UPD) of chromosome 15 in which the proband inherited two paternal copies of an IVA gene point mutation. As both diseases may have severe impact on neurodevelopment, adequate treatment of IVA should be discussed. In our patient however, the variant identified likely causes asymptomatic organic aciduria. Such findings emphasize that paternal UPD 15 can rarely lead to co-occurrence of Angelman syndrome and potentially treatable inborn errors of metabolism.