RESUMO
BACKGROUND: Febrile seizures (FSs) relatively represent the most common form of childhood seizures. FSs are not thought of as a true epileptic disease but rather as a special syndrome characterized by its provoking factor (fever) and a typical range of 3 months to 5 years. Although specific genes affecting the majority of FS cases have not been identified yet, several genetic loci for FSs have been reported recently. The aim of this report is to search for the gene responsible for FSs in six affected Tunisian families. METHODS: A microsatellite marker analysis was performed on the known FS and generalized epilepsy with febrile seizures plus (GEFS+) loci. According to the results obtained by statistical analyses for the six studied families and in agreement with the involvement of SCN1B gene in the GEFS+ syndrome in previous studies, SCN1B on GEFS+1 locus was considered as one of the potential candidate genes and was tested for mutations by direct sequencing. RESULTS: A sequencing analysis of the SCN1B gene revealed a novel mutation (c.374G>T) that changed an arginine residue with leucine at position 125 of the protein. We consider that the variation R125L may affect the protein structure and stability by the loss of hydrogen bonding. Two identified single nucleotide polymorphisms that are located in a neighboring hypothetical polyadenylation were assumed to compose a putative disease-associated haplotype. CONCLUSION: Our results support that SCN1B is the gene responsible in one amongst the six FS Tunisian families studied and might contribute to the FS susceptibility for the five others.
Assuntos
Química Encefálica/genética , Predisposição Genética para Doença/genética , Haplótipos/genética , Mutação/genética , Convulsões Febris/genética , Canais de Sódio/genética , Adolescente , Adulto , Criança , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Convulsões Febris/etnologia , Tunísia/epidemiologia , Tunísia/etnologia , Subunidade beta-1 do Canal de Sódio Disparado por VoltagemRESUMO
Glanzmann thrombasthenia (TG) is a congenital platelet function disorder characterized by frequent and occasionally severe bleeding events. Treatment is based on platelet transfusion at the time of bleeding. We report a case of GT revealed in the neonatal period, a severe hemorrhagic syndrome refractory to transfusions, treated at the age of 6 years. Activated recombinant factor VII (Novoseven) injections were necessary. The advantages of recombinant activated factor VII in GT patients with platelet antibodies and/or platelet transfusions refractoriness are discussed.
Assuntos
Fator VIIa/uso terapêutico , Hemostáticos/uso terapêutico , Trombastenia/tratamento farmacológico , Criança , Humanos , Masculino , Proteínas Recombinantes/uso terapêuticoRESUMO
Cavernous malformations are vascular lesions of the central nervous system. They are very rare in childhood. We report the case of sporadic cavernous cerebral angioma in a 1-year-old girl without pathologic antecedents revealed by a partial seizure. With this case and a review of the literature, we show the clinical and therapeutic characteristics of cerebral cavernomatosis in childhood.
Assuntos
Neoplasias Encefálicas/diagnóstico , Hemangioma Cavernoso/diagnóstico , Ácido Valproico/uso terapêutico , Neoplasias Encefálicas/tratamento farmacológico , Neoplasias Encefálicas/patologia , Feminino , Hemangioma Cavernoso/tratamento farmacológico , Hemangioma Cavernoso/patologia , Humanos , Lactente , Imageamento por Ressonância Magnética , Convulsões/etiologia , Resultado do TratamentoRESUMO
BACKGROUND AND PURPOSE: Febrile Seizure can be associated with heterogeneous epilepsy phenotypes regrouped in a syndrome called generalized epilepsy with febrile seizures plus (GEFS+). The aim of this report is to search for the gene responsible for GEFS+ in two affected Tunisian families. METHODS: Microsatellite marker analysis was performed on the known FS and GEFS+ loci. According to the results obtained by statistical analyses, GABRG2 on GEFS+3 locus and SCN1A on GEFS+2 locus were considered as two of the potential candidate genes and were tested for mutations by direct sequencing. RESULTS AND CONCLUSIONS: The mutation analysis and statistical test of the GABRG2 gene revealed a disease association with rs211014 in intron 8 (chi(2) = 5.25, P = 0.021). A sequencing analysis of the SCN1A gene was performed for the two tested families and showed a known mutation (c.1811G>A) and a putative disease-associated haplotype in only one family. Our results support that SCN1A is the responsible gene for GEFS+ in one of the two studied Tunisian families and suggest a positive association of an intronic SNP in the GABRG2 gene in both families.
Assuntos
Epilepsia Generalizada/genética , Predisposição Genética para Doença/genética , Mutação/genética , Proteínas do Tecido Nervoso/genética , Receptores de GABA-A/genética , Canais de Sódio/genética , Adolescente , Adulto , Idoso , Criança , Pré-Escolar , Análise Mutacional de DNA , Epilepsia Generalizada/etnologia , Epilepsia Generalizada/metabolismo , Feminino , Marcadores Genéticos/genética , Testes Genéticos , Genótipo , Haplótipos/genética , Humanos , Masculino , Repetições de Microssatélites/genética , Pessoa de Meia-Idade , Canal de Sódio Disparado por Voltagem NAV1.1 , Linhagem , Polimorfismo de Nucleotídeo Único/genética , Tunísia , Adulto JovemAssuntos
Proteínas Cromossômicas não Histona , Proteínas de Ligação a DNA/genética , Proteínas Repressoras , Síndrome de Rett/genética , Criança , Pré-Escolar , Estudos de Coortes , Feminino , Testes Genéticos , Genótipo , Humanos , Masculino , Proteína 2 de Ligação a Metil-CpG , Mutação , Estudos Retrospectivos , Síndrome de Rett/diagnósticoRESUMO
To define, the prevalence and risk factors of hepatitis C virus (HCV) a prospective and multicentre study was performed in 235 patients undergoing haemodialysis, the anti-HCV antibodies were evaluated using an immuno-enzymatic method (wellcozyme anti-HCV). The following parameters were obtained for all patients: time on haemodialysis, blood transfusion, liver enzymes (ALT, AST), others virus markers: HBV (HBs Ag, HBs Ab, HBc Ab) and HIV. Anti-HCV was positive in 86 patients (42%). There was a significant (p < 0.05) relationship between presence of anti-HCV antibodies and duration of haemodialysis (33 +/- 24 vs 20 +/- 19 months). No statistically significant difference was found with blood transfusion and the others parameters. In conclusion, the prevalence of HCV in our center of dialysis was high. The duration of dialysis seems to be the main risk factor.