RESUMO
In 2015 an unprecedented increase of reports of newborns with microcephaly in Brazil made news headlines around the world. A possible etiological association with prenatal maternal infection by Zika virus (ZIKV) was suggested based on temporal and geographic distribution of ZIKV infection and the subsequent increase in the reports of microcephaly cases. Here we discuss ZIKV as a new human teratogen, with comments on potential treatment options.
Assuntos
Microcefalia/epidemiologia , Complicações Infecciosas na Gravidez/epidemiologia , Infecção por Zika virus/complicações , Animais , Brasil/epidemiologia , Feminino , Humanos , Recém-Nascido , Microcefalia/virologia , Gravidez , Complicações Infecciosas na Gravidez/virologia , Infecção por Zika virus/epidemiologia , Infecção por Zika virus/terapiaRESUMO
Apolipoprotein E (protein: apo E; gene: APOE) plays an important role in the multifactorial etiology of both Alzheimer's disease (AD) and lipid level concentrations. The polymerase chain reaction (PCR) was used to investigate the APOE gene polymorphism in 446 unrelated Caucasians, among them 23 AD patients, and 100 Afro-Brazilians living in Porto Alegre, Brazil. The frequencies of the APOE*2, APOE*3 and APOE*4 alleles were 0.075, 0.810 and 0.115 in Caucasians and 0.075, 0.700 and 0.225 in Afro-Brazilians, respectively (c2 = 8.72, P = 0.013). A highly significant association was observed between the APOE*4 allele and AD in this population-based sample. The APOE*4 frequency in AD patients (39 percent) was about four times higher than in the general Caucasian population (11.5 percent). The influence of each of the three common APOE alleles on lipid traits was evaluated by the use of the average excess statistic. The E*2 allele is associated with lower levels of triglycerides and of total and non-HDL cholesterol in both men and women. Conversely, the E*4 allele is associated with higher levels of these traits in women only. The effect of APOE alleles was of greater magnitude in women.
Assuntos
Humanos , Adulto , Pessoa de Meia-Idade , Alelos , Doença de Alzheimer/genética , Apolipoproteínas E/genética , Lipídeos/sangue , Polimorfismo Genético , População Negra/genética , Brasil , Estudos de Casos e Controles , DNA/análise , População Branca/genética , Genótipo , Reação em Cadeia da PolimeraseRESUMO
Apolipoprotein E (protein: apo E; gene: APOE) plays an important role in the multifactorial etiology of both Alzheimer's disease (AD) and lipid level concentrations. The polymerase chain reaction (PCR) was used to investigate the APOE gene polymorphism in 446 unrelated Caucasians, among them 23 AD patients, and 100 Afro-Brazilians living in Porto Alegre, Brazil. The frequencies of the APOE*2, APOE*3 and APOE*4 alleles were 0.075, 0.810 and 0.115 in Caucasians and 0.075, 0.700 and 0.225 in Afro-Brazilians, respectively (chi2 = 8.72, P = 0.013). A highly significant association was observed between the APOE*4 allele and AD in this population-based sample. The APOE*4 frequency in AD patients (39%) was about four times higher than in the general Caucasian population (11.5%). The influence of each of the three common APOE alleles on lipid traits was evaluated by the use of the average excess statistic. The E*2 allele is associated with lower levels of triglycerides and of total and non-HDL cholesterol in both men and women. Conversely, the E*4 allele is associated with higher levels of these traits in women only. The effect of APOE alleles was of greater magnitude in women.
Assuntos
Alelos , Doença de Alzheimer/genética , Apolipoproteínas E/genética , Lipídeos/sangue , Polimorfismo Genético , Adulto , Idoso , Idoso de 80 Anos ou mais , Doença de Alzheimer/sangue , População Negra/genética , Brasil , Estudos de Casos e Controles , DNA/análise , Feminino , Genótipo , Humanos , Masculino , Pessoa de Meia-Idade , Reação em Cadeia da Polimerase , População Branca/genéticaRESUMO
The combination of Moebius and Poland anomalies is rarely described in the literature. Some authors believe that this association is an independent syndrome, while others propose that Poland, Moebius and Poland-Moebius are a spectrum of the same condition. Here we report a family where a child has Poland-Moebius syndrome and an aunt is affected with Poland anomaly. This probably represents the second report of possible autosomal dominant transmission of Poland-Moebius syndrome. The presence of contralateral triphalangeal thumb in the proband and in other members of the family can be explained by chance alone or, alternatively, by a pleiotropic expression of this gene.