Assuntos
Aorta Torácica/diagnóstico por imagem , Doenças da Aorta/diagnóstico por imagem , Aterosclerose/diagnóstico por imagem , Isquemia Encefálica/etiologia , Imageamento por Ressonância Magnética , Placa Aterosclerótica , Acidente Vascular Cerebral/etiologia , Idoso , Idoso de 80 Anos ou mais , Aorta Torácica/patologia , Doenças da Aorta/complicações , Doenças da Aorta/patologia , Aterosclerose/complicações , Aterosclerose/patologia , Isquemia Encefálica/diagnóstico por imagem , Ecocardiografia Transesofagiana , Feminino , Humanos , Masculino , Valor Preditivo dos Testes , Processamento de Sinais Assistido por Computador , Acidente Vascular Cerebral/diagnóstico por imagemRESUMO
Neuroferritinopathy is a hereditary neurodegenerative disorder caused by mutations in the ferritin light chain gene (FTL1). The cardinal features are progressive movement disturbance, hypoferritinemia, and iron deposition in the brain. To date, five mutations have been described in Caucasian and Japanese families, but the genotype-phenotype correlations remain to be established. We identified a novel FTL1 mutation (exon 4, c.641/642, 4-nucletotide duplication) in a Japanese family and compared the clinical traits with those previously reported. All mutations but one are insertions in exon 4, resulting in frameshifts. Clinical features are similar among patients with the same mutations. Middle-age onset chorea is common in patients with insertions in the 5' portion of exon 4 including our cases, whereas patients with insertions in the 3' portion of exon 4 develop early-onset tremor, suggesting genotype-phenotype correlations. In this family, male predominance and normal serum ferritin levels are characteristic.
Assuntos
Apoferritinas/genética , Povo Asiático/genética , Encéfalo/metabolismo , Ferritinas/metabolismo , Expressão Gênica/genética , Genótipo , Transtornos dos Movimentos/genética , Transtornos dos Movimentos/fisiopatologia , Mutação , Fenótipo , Adulto , Encéfalo/patologia , Progressão da Doença , Éxons , Ferritinas/genética , Humanos , Imageamento por Ressonância Magnética , Masculino , Mutação/genética , Linhagem , Índice de Gravidade de DoençaRESUMO
The characteristic of delayed enhancement MRI is high spatial resolution, which makes it possible to evaluate the degree of damage to the myocardium from the inner to the outer membrane of patients with ischemic heart disease. Therefore, this MRI technique is unique in its ability to detect myocardial condition and is necessary to obtain high-quality images. We experienced artifacts induced by TFE factor increase with delayed enhancement of IR-T1TFE. The purpose of this study was to determine the cause of such artifacts. IR-T1TFE changed signal intensity with phase direction as the TFE factor increased. Streak artifacts occurred because signal intensity caused changes with phase direction. Increases in TFE factor prolonged data collection time, such that marked artifacts were created because of changes in signal intensity. Ghost artifacts occurred because signal intensity changed between shots. When the TFE factor was increased, the difference in signal intensity was diminished between shots. The interval of acquired noise decreased in the raw data. Therefore, the interval of ghost artifacts became wider on images.