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Canavan disease is a rare hereditary leukodystrophy that manifests in early childhood. Associated with rapidly progressive clinical deterioration, it usually results in death by the third year of life. The predominant MRI appearance is diffuse and symmetrical white matter disease. We discuss an atypical, late presentation of Canavan disease with a benign… (More)
The RAD54 gene of Saccharomyces cerevisiae encodes a conserved dsDNA-dependent ATPase of the Swi2/Snf2 family with a specialized function during recombinational DNA repair. Here we analyzed the consequences of the loss of Rad54 function in vegetative (mitotic) cells. Mutants in RAD54 exhibited drastically reduced rates of spontaneous intragenic… (More)
The paper aims to show an applicability of the algebraic approach introduced in [7,9,11,6] to solving a problem of fuzzy control. In this approach, linearly ordered term-domains of linguistic variables can be considered as linear hedges algebras (LinHAs). It is interesting that in LinHAs, a formal notion of fuzziness measure of linguistic hedges and terms… (More)
Rhabdomyosarcoma rarely metastasizes to the breast. We report a case of a pediatric patient who initially presented with a right breast mass and pancytopenia, which was subsequently diagnosed as alveolar rhabdomyosarcoma. Despite initial favorable response to chemotherapy, a new metastatic focus was found in the contralateral breast 10 months later.
PURPOSE To assess visual and ocular motor function in children with polymicrogyria (PMG). METHODS The medical records of 15 children (0.4-4 years of age) with PMG documented by magnetic resonance imaging (MRI) and with age-corrected visual acuity measured by Teller acuity cards were reviewed retrospectively. Cortical function was assessed by pattern… (More)
Malignant rhabdoid tumors are aggressive malignancies that can rarely present as hepatic masses in the pediatric population. The imaging findings are often nonspecific and usually suggest other more common hepatic tumors. We report the radiologic appearance of malignant rhabdoid tumor in a 3-month-old female with pathologic correlation.