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1.
Neuroepidemiology ; 39(2): 131-4, 2012.
Artigo em Inglês | MEDLINE | ID: mdl-22889740

RESUMO

BACKGROUND/AIMS: The prevalence of epilepsy in Algeria is unknown. The aims of this multicenter transversal study were to determine the national prevalence and clinical characteristics of epilepsy in the Algerian population. METHODS: This two-phase study was conducted in 5 circumscriptions and included 8,046 subjects aged over 2 months who attended the randomly selected public and private primary care clinics. In the phase 1 study, a questionnaire was submitted to the sample of patients. In the phase 2 study, all potentially epileptic people were examined by neurologists and a second questionnaire was submitted, eventually assessed by appropriate investigations. RESULTS: Sixty-seven patients were identified as having active epilepsy, giving a crude prevalence ratio of 8.32 per 1,000 (95% CI, 6.34-10.3) and an age-adjusted prevalence ratio of 8.9 per 1,000. The highest age-specific ratio was found in patients aged 10-19 years (16.92 per 1,000). Generalized seizures (68.7%) were more common than partial seizures (29.8%). Perinatal injuries were the major leading putative causes (11.9%). CONCLUSION: The prevalence of epilepsy of 8.32 determined in this study is relatively high. These results provide new epidemiological data and suggest that epilepsy remains an important public health issue to consider in Algeria.


Assuntos
Epilepsia/epidemiologia , Adolescente , Adulto , Idoso , Argélia/epidemiologia , Criança , Pré-Escolar , Feminino , Humanos , Lactente , Masculino , Pessoa de Meia-Idade , Prevalência
2.
Eur J Med Genet ; 52(4): 180-4, 2009.
Artigo em Inglês | MEDLINE | ID: mdl-19332161

RESUMO

Homozygous mutations in the ASPM gene are a major cause of autosomal recessive primary microcephaly (MCPH). Here we report on a consanguineous Algerian family in which three out of five children presented with severe microcephaly, simplified cortical gyration, mild to severe mental retardation and low to low-normal birth weight. Given the parental consanguinity with the unaffected parents being third cousins once removed, the most probable pattern of inheritance was autosomal recessive. Linkage and mutational analyses identified compound heterozygous truncating mutations within the ASPM gene segregating with MCPH (c.2389C>T [p.Arg797X] and c.7781_7782delAG [p.Gln2594fsX6]). These results highlight some of the pitfalls of genetic analysis in consanguineous families. They also suggest that low birth weight may be a feature of MCPH, a finding that needs confirmation, and confirm that ASPM mutations are associated with simplified cortical gyration.


Assuntos
Córtex Cerebral/anormalidades , Consanguinidade , Microcefalia/genética , Mutação , Proteínas do Tecido Nervoso/genética , Argélia , Peso ao Nascer , Criança , Família , Feminino , Haplótipos , Heterozigoto , Humanos , Deficiência Intelectual/genética , Masculino , Microcefalia/diagnóstico por imagem , Linhagem , Radiografia , Irmãos
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