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1.
New Microbes New Infect ; 1(1): 16-7, 2013 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-25356319

RESUMO

Entamoeba histolytica meningoencephalitis has not been described in the modern literature, which is distinct from that caused by free-living amoebae. We report the first case of E. histolytica meningoencephalitis without liver or brain abscesses. Cerebrospinal fluid revealed 2 + very motile trophozoites. Our patient was successfully treated with intravenous metronidazole.

2.
Hum Genet ; 103(5): 608-12, 1998 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-9860304

RESUMO

We have studied one family of Chinese origin, in which benign infantile convulsions and paroxysmal choreoathetosis (of the dystonic form) were co-inherited as a single autosomal dominant trait. This association is specific to ICCA syndrome, which we have recently described in four French families. Some patients in the new family also exhibit recurrence of epileptic seizures at a much later age, making the ICCA syndrome in this family atypical. DNA samples isolated from this family of 22 members (9 affected) have been tested with genetic markers at chromosome 16p12-q12, in which region the ICCA syndrome has previously been linked. Confirmation of linkage to this pericentromeric region of human chromosome 16 has been obtained and no critical meiotic recombination event has been detected in the ICCA region. This result suggests that, in contrast to marked clinical heterogeneity, the association of infantile convulsions with paroxysmal dyskinetic movements could be genetically homogeneous.


Assuntos
Cromossomos Humanos Par 16/genética , Epilepsia/genética , Ligação Genética/genética , Transtornos dos Movimentos/genética , China , Mapeamento Cromossômico , Feminino , Genes Dominantes/genética , Humanos , Lactente , Escore Lod , Masculino , Repetições de Microssatélites/genética , Linhagem
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