Cornelia de Lange syndrome: Correlation of brain MRI findings with behavioral assessment.

Neurobehavioral and developmental issues with a broad range of deficits are prominent features of Cornelia de Lange syndrome (CdLS), a disorder due to disruption of the cohesin protein complex. The etiologic relationship of these clinical findings to anatomic abnormalities on neuro-imaging studies has not, however, been established. Anatomic abnormalities in the brain and central nervous system specific to CdLS have been observed, including changes in the white matter, brainstem, and cerebellum. We hypothesize that location and severity of brain abnormalities correlate with clinical phenotype in CdLS, as seen in other developmental disorders. In this study, we retrospectively evaluated brain MRI studies of 15 individuals with CdLS and compared these findings to behavior at the time of the scan. Behavior was assessed using the Aberrant Behavior Checklist (ABC), a validated behavioral assessment tool with several clinical features. Ten of fifteen (67%) of CdLS patients had abnormal findings on brain MRI, including cerebral atrophy, white matter changes, cerebellar hypoplasia, and enlarged ventricles. Other findings included pituitary tumors or cysts, Chiari I malformation and gliosis. Abnormal behavioral scores in more than one behavioral area were seen in all but one patient. All 5 of the 15 (33%) patients with normal structural MRI studies had abnormal ABC scores. All normal ABC scores were noted in only one patient and this was correlated with moderately abnormal MRI changes. Although our cohort is small, our results suggest that abnormal behaviors can exist in individuals with CdLS in the setting of relatively normal structural brain findings. © 2016 Wiley Periodicals, Inc.

[Lights, art, science - action!]. / Luz, arte, ciência... ação!

The article offers some reflections on the main interactions between theater, science, and technology down through the history of theater. Based on our experience at "Science in the Spotlight", part of the Casa de Oswaldo Cruz's Museum of Life, we discuss how these interactions can be part of a science museum's daily activities. We use the word 'science' in its broad sense, encompassing not only the natural but human sciences as well; likewise, we use the word 'technology' as it relates to applied science. Art and science are understood here as creative processes, as ways of representing the world and expressing human knowledge.

Temporal soft tissue glioneuronal heterotopia in a child with a seizure disorder: case report and review of the literature.

Tissue and cellular elements generally attributed to the central nervous system (CNS) are infrequently found in areas outside the CNS proper. Most of these lesions contain predominantly glial tissue. In rare instances, heterotopic CNS tissue is found in the scalp, many associated with an intracranial connection and overlying skin and hair anomalies. In follow-up of these patients, development is normal. We present a case of a temporal scalp mass in a 19-month-old girl with a seizure disorder beginning at about age 1 year. At the time of excision, the mass was not associated with intracranial connection or overlying cutaneous abnormalities and demonstrated abundant neuronal and glial elements with features of dysplastic CNS tissue. We speculate that, in certain circumstances, aberrantly localized CNS tissue may be related to abnormal CNS development.

Luz, arte, ciência... ação! / Lights, art, science - action!

O principal objetivo do presente artigo é refletir sobre as principais interações entre teatro, ciência e tecnologia, ao longo da história do teatro, e discutir, a partir de nossa experiência no Ciência em Cena, espaço integrante do Museu da Vida, de que modos essas interações podem estar presentes no cotidiano de um museu de ciências. A palavra 'ciência' deve ser compreendida aqui em sentido amplo, englobando não apenas as ciências naturais, mas também as ciências humanas, assim como a palavra 'tecnologia' deve ser associada à ciência aplicada. Arte e ciência serão entendidas como processos criativos, como formas de representação do mundo e expressão do conhecimento humano.

The article offers some reflections on the main interactions between theater, science, and technology down through the history of theater. Based on our experience at "Science in the Spotlight", part of the Casa de Oswaldo Cruz's Museum of Life, we discuss how these interactions can be part of a science museum's daily activities. We use the word 'science' in its broad sense, encompassing not only the natural but human sciences as well; likewise, we use the word 'technology' as it relates to applied science. Art and science are understood here as creative processes, as ways of representing the world and expressing human knowledge.