RESUMO
We present a case of a six-year-old boy with complex partial anomalous pulmonary venous connections with accessory pulmonary veins, where multi-detector computed tomography proved crucial for accurate identification prior to planning for surgical correction.
Assuntos
Angiografia por Tomografia Computadorizada/métodos , Tomografia Computadorizada Multidetectores , Veias Pulmonares/anormalidades , Veias Pulmonares/diagnóstico por imagem , Síndrome de Cimitarra/diagnóstico por imagem , Criança , Humanos , Masculino , Valor Preditivo dos Testes , Veias Pulmonares/fisiopatologia , Veias Pulmonares/cirurgia , Síndrome de Cimitarra/fisiopatologia , Síndrome de Cimitarra/cirurgiaRESUMO
Through a survey of more than 20 patients with a specific subgroup of autosomal recessive congenital cutis laxa (ARCL), namely ATP6V0A2-related cutis laxa, we noted that the clinical findings on three patients included pretibial pseudo-ecchymotic skin lesions very similar to those found in classical Ehlers-Danlos syndrome. The finding is apparently age-related, occurring during the second decade in two of the three patients.
Assuntos
Cútis Laxa/diagnóstico , Cútis Laxa/genética , Síndrome de Ehlers-Danlos/diagnóstico , Pele/patologia , Biópsia , Criança , Análise Mutacional de DNA , Diagnóstico Diferencial , Fácies , Feminino , Humanos , Masculino , Mutação , Fenótipo , ATPases Translocadoras de Prótons/genética , Adulto JovemRESUMO
Rheumatic fever (RF), a potential sequela of Streptococcus pyogenes pharyngitis, sometimes results in myocarditis and heart failure. Antibodies have been implicated in the pathogenesis of RF and anti-cardiac myosin antibody levels are elevated in RF patients. Since myocarditis is associated with altered cardiomyocyte calcium transients it was of interest to determine the direct effects of RF patient antibodies on calcium transients in cultured myocytes. RF patient polyclonal IgM treatment caused increased calcium retention by neonatal rat heart cells in vitro as determined with isotopically labeled calcium. Therefore, to further characterize this finding, calcium transients were evaluated by real time fluorescence spectroscopy and deconvolution imaging. RF patient polyclonal IgM produced increased calcium retention during the relaxation stage of the contraction cycle leading to a slowing of contraction rate, disorganized calcium transients, and eventual tetany. In contrast, calcium transient studies of cardiomyocytes following treatment with monoclonal anti-myosin antibodies revealed declining intracellular calcium levels, accompanied by disorganized transients and tetany. Treatment with both antibodies led to myocyte dysfunction and these novel findings suggest a role for antibodies in the pathogenesis of the myocarditis associated with rheumatic carditis.
