Aspectos radiograficos nas imunodeficiencias primarias

Orientador : Silvio dos Santos CarvalhalTese (doutorado) - Universidade Estadual de Campinas, Faculdade de Ciencias MedicasResumo: Não informadoAbstract: Not informedDoutoradoDoutor em Ciências Médica

DRPLA : an unusual disease or an underestimated cause of ataxia in Brazil?

Background: Dentatorubral-pallidoluysian atrophy (DRPLA) is a rare autosomal dominant spinocerebellar ataxia caused by pathological expansion of CAG trinucleotide repeats in the ATN1 gene. Most cases were described in patients from Japanese ancestry who presented with adult-onset progressive cerebellar ataxia associated with cognitive impairment, choreoathetosis and other movement disorders. DRPLA has been rarely described in Brazilian patients. Methods: We performed a retrospective observational multicentric study including six different Neurology Centers in Brazil. All patients with genetically confirmed diagnosis of DRPLA had their medical records evaluated and clinical, genetic and neuroimaging features were analyzed. Results: We describe of eight Brazilian patients (5 male, 3 female) from four nuclear families with genetically confirmed DRPLA. The most common neurological features included cerebellar ataxia (n=7), dementia (n=3), chorea (n=2), psychiatric disturbances (n=2), progressive myoclonic epilepsy (n=2) and severe bulbar signs (n=1). Progressive myoclonic epilepsy was observed in two juvenile-onset cases before 20-year. A large CAG trinucleotide length was observed in the two juvenile-onset cases and genetic anticipation was observed in all cases. Neuroimaging studies disclosed cerebellar atrophy (n=6), as well as brainstem and cerebellar atrophy (n=2) and leukoencephalopathy (n=1). Conclusion: The patients described herein reinforce that clinical features of DRPLA are highly influenced by age of onset, genetic anticipation and CAG repetition lengths. There is a large complex spectrum of neurological features associated with DRPLA, varying from pure cerebellar ataxia to dementia associated with other movement disorders (myoclonus, choreoathetosis). DRPLA is an unusual cause of cerebellar ataxia and neurodegeneration in Brazilian patients

Mídia e política no Brasil: textos e agenda de pesquisa Midia and politics in Brazil: texts and research agenda

Um especialista em estudos de comunicação e um cientista político apresentam conjuntamente um panorama da pesquisa sobre as relações entre os meios de comunicação e os processos políticos no Brasil. Uma agenda de pesquisa é proposta e um elenco de textos nessa área é apresentado.<br>A specialist in communication studies and a political scientist present together a panorama of research on the relations between communication midia and political processes in Brazil A research agenda is proposed and a list of texts in this area is presented