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A 2-year-old girl underwent conversion to the Konno procedure by removing the Damus–Kaye–Stansel anastomosis after the neonatal Yasui procedure for an interrupted aortic arch with left ventricular outflow tract stenosis. Her postoperative course was uneventful. However, left ventricular outflow tract restenosis occurred due to narrowed ventricular septal defect and moderate neoaortic regurgitation from the old pulmonary valve. The Konno procedure was performed by removing the Damus–Kaye–Stansel anastomosis for left ventricular outflow tract restenosis and neoaortic regurgitation and performing right ventricular outflow tract reconstruction and ventricular septal defect closure. Left ventricular outflow tract restenosis was not observed. [ABSTRACT FROM AUTHOR]

Biatrial drainage of the right superior vena cava resulting from a sinus venosus defect is a rare congenital malformation. It can result in severe desaturation although a sinus venosus defect usually presents as a left-to-right shunt. A male baby was noted to have cyanosis while nursing and was referred to us for medical treatment on his second day of life. Echocardiography showed that most of the blood flowing through the superior vena cava drained into the left atrium. He underwent successful surgery to correct this defect at the age of 2 years. [ABSTRACT FROM AUTHOR]

Acute disseminated encephalomyelitis is an immune-mediated inflammatory demyelinating disease of the central nervous system that can occur during or after infections. A 2-year-old female was hospitalized in an unconsciousness state with fever. She had suffered from 5 days of hand-foot-mouth disease until 2 days before admission. Magnetic resonance imaging disclosed high-intensity lesions at the cerebrum and cerebellum but not at the brainstem and spinal cord, confirming the diagnosis of acute disseminated encephalomyelitis. Her illness was remarkably improved after the start of steroid therapy and she could recover without any sequele. The genetic analysis of the genome sequence revealed that the isolated strain was enterovirus 71. The phylogenetic analysis with the strains obtained from fatal brainstem encephalitis suggests an association between the genotypes and the neurological virulency. [ABSTRACT FROM AUTHOR]

Interleukin-18 (IL-18), a cytokine formerly known as interferon-?- (IFN-?-) inducing factor, has pleiotropic immunoregulatory functions, including augmentation of IFN-? production, Fas-mediated cytotoxicity and developmental regulation of T-lymphocyte helper type I. We determined the solution structure of IL-18 as a first step toward understanding its receptor activation mechanism. It folds into a ß-trefoil structure that resembles that of IL-1. Extensive mutagenesis revealed the presence of three sites that are important for receptor activation: two serve as binding sites for IL-18 receptor a (IL-18Ra), located at positions similar to those of IL-1 for IL-1 receptor type I (IL-1RI), whereas the third site may be involved in IL-18 receptor ß (IL-18Rß) binding. The structure and mutagenesis data provide a basis for understanding the IL-18-induced heterodimerization of receptor subunits, which is necessary for receptor activation. [ABSTRACT FROM AUTHOR]

Abstract: Van der Knaap disease, characterized by megalencephalic leukoencephalopathy and subcortical cysts, is a rare and recently defined condition. We discuss here the MR image (MRI) and MR spectroscopy (MRS) features in a 30-year-old man with S93L homozygous mutation in the MLC1 gene. MRI demonstrated high intensity diffuse white matter with T2-weighted image and subcortical cysts in the parietal and temporal lobes and MRS showed mildly reduced N-acetylaspartate (NAA) in areas of severe T2 elongation with a long TE sequence. A peak of lactate/lipid was indicated at a chemical shift of 1.3ppm with a short TE sequence. The peak for myo-inositol was normal in areas of severe and mild T2 elongation with short TE MRS. These findings suggest that demyelination progresses slowly in van der Knaap disease and that MRS with long and short TE is useful for the evaluation of neural metabolization associated with van der Knaap disease. [Copyright &y& Elsevier]

Van der Knaap disease, characterized by megalencephalic leukoencephalopathy and subcortical cysts, is a rare and recently defined condition. We discuss here the MR image (MRI) and MR spectroscopy (MRS) features in a 30-year-old man with S93L homozygous mutation in the MLC1 gene. MRI demonstrated high intensity diffuse white matter with T2-weighted image and subcortical cysts in the parietal and temporal lobes and MRS showed mildly reduced N-acetylaspartate (NAA) in areas of severe T2 elongation with a long TE sequence. A peak of lactate/lipid was indicated at a chemical shift of 1.3 ppm with a short TE sequence. The peak for myo-inositol was normal in areas of severe and mild T2 elongation with short TE MRS. These findings suggest that demyelination progresses slowly in van der Knaap disease and that MRS with long and short TE is useful for the evaluation of neural metabolization associated with van der Knaap disease.