RESUMO
BACKGROUND: Human reproductive disorders consist of frequently occurring dysfunctions including a broad range of phenotypes affecting fertility and women's health during pregnancy. Several female-related diseases have been associated with hypofertility/infertility phenotypes, such as recurrent pregnancy loss (RPL). Other occurring diseases may be life-threatening for the mother and foetus, such as preeclampsia (PE) and intra-uterine growth restriction (IUGR). FOXD1 was defined as a major molecule involved in embryo implantation in mice and humans by regulating endometrial/placental genes. FOXD1 mutations in human species have been functionally linked to RPL's origin. METHODS: FOXD1 gene mutation screening, in 158 patients affected by PE, IUGR, RPL and repeated implantation failure (RIF), by direct sequencing and bioinformatics analysis. Plasmid constructs including FOXD1 mutations were used to perform in vitro gene reporter assays. RESULTS: Nine non-synonymous sequence variants were identified. Functional experiments revealed that p.His267Tyr and p.Arg57del led to disturbances of promoter transcriptional activity (C3 and PlGF genes). The FOXD1 p.Ala356Gly and p.Ile364Met deleterious mutations (previously found in RPL patients) have been identified in the present work in women suffering PE and IUGR. CONCLUSIONS: Our results argue in favour of FOXD1 mutations' central role in RPL, RIF, IUGR and PE pathogenesis via C3 and PlGF regulation and they describe, for the first time, a functional link between FOXD1 and implantation/placental diseases. FOXD1 could therefore be used in clinical environments as a molecular biomarker for these diseases in the near future.
Assuntos
Aborto Habitual/genética , Retardo do Crescimento Fetal/genética , Fatores de Transcrição Forkhead/genética , Predisposição Genética para Doença/genética , Pré-Eclâmpsia/genética , Estudos de Coortes , Feminino , Fatores de Transcrição Forkhead/metabolismo , Humanos , Mutação/genética , Polimorfismo de Nucleotídeo Único/genética , Gravidez , Regiões Promotoras Genéticas/genéticaRESUMO
OBJECTIVES: Determining the prevalence and type of infectious ADD-causing agents in a sample of children aged less than five who consulted the IPS in Tunja during 2004. MATERIAL AND METHODS: A cross-sectional study was designed. Data was obtained by surveying 129 children younger than 5 suffering from ADD. Samples of faeces were obtained following outpatient consultation at San Rafael Hospital and SaludCoop's clinic in Tunja. RESULTS: Rotavirus was found in 48.1% of cases, Shigella in 0.8%, E. coli in 13.9%, Campylobacter in 2.3%, Giardia lamblia in 12.4% and E. hitolytica in 7%. The causative agent could not be identified in 15.5% of cases. The statistical association grew with age for Rotavirus (p < 0.01), E. coli (p < 0.05) and campylobacter (p < 0.001). CONCLUSION: Rotavirus is the major causative agent of ADD in children younger than one year and, generally, in children aged less than five. The prevalence found was similar to data reported in studies carried out in Facatatativá, Bogotá, Santander, Manizales and the Chocó in Colombia and studies carried out in Venezuela, Peru and Mexico.
Assuntos
Diarreia Infantil/etiologia , Diarreia/etiologia , Infecções por Campylobacter/epidemiologia , Pré-Escolar , Colômbia/epidemiologia , Estudos Transversais , Desidratação/epidemiologia , Desidratação/etiologia , Diarreia/epidemiologia , Diarreia/microbiologia , Diarreia/parasitologia , Diarreia/virologia , Diarreia Infantil/epidemiologia , Diarreia Infantil/microbiologia , Diarreia Infantil/parasitologia , Diarreia Infantil/virologia , Disenteria Bacilar/epidemiologia , Escolaridade , Entamebíase/epidemiologia , Infecções por Escherichia coli/epidemiologia , Fezes/microbiologia , Fezes/parasitologia , Fezes/virologia , Feminino , Giardíase/epidemiologia , Humanos , Lactente , Recém-Nascido , Masculino , Mães/estatística & dados numéricos , Pobreza/estatística & dados numéricos , Prevalência , Infecções por Rotavirus/epidemiologia , Fatores SocioeconômicosRESUMO
Objetivos: Determinar la prevalencia y tipo de agentes infecciosos causantes de EDA en una muestra de niños menores de 5 años que consultaron a IPS de Tunja durante el año 2004. Materiales y Métodos Estudio de corte transversal, la información se recogió mediante aplicación de una encuesta a 129 niños menores de 5 años afectados de EDA. Adicionalmente se recogió una muestra de heces, en las consultas externas del Hospital San Rafael y Clínica Saludcoop de Tunja. Resultados Se encontró Rotavirus en 48,1 por ciento, Shigella 0,8 por ciento, E. coli 13,9 por ciento; Campylobacter 2,3 por ciento; Giardia lamblia 12,4 por ciento; E. histolytica 7 por ciento; en 15,5 por ciento de casos no se identificó agente causal. La asociación es creciente con la edad para Rotavirus (p<0,01), E.Coli (p<0,05) y Campylobacter (p<0,001). Conclusión Rotavirus es el mayor agente causal de EDA en menores de 1 año, y en general, en menores de 5 años. Las prevalencias encontradas coinciden con lo reportado en estudios realizados en Facatativá, Bogotá, Santander, Manizales y Chocó; también con estudios adelantados en Venezuela, Perú y México.
Objectives: Determining the prevalence and type of infectious ADD-causing agents in a sample of children aged less than five who consulted the IPS in Tunja during 2004. Material and Methods A cross-sectional study was designed. Data was obtained by surveying 129 children younger than 5 suffering from ADD. Samples of faeces were obtained following outpatient consultation at San Rafael Hospital and SaludCoopÆs clinic in Tunja. Results Rotavirus was found in 48,1 percent of cases, Shigella in 0,8 percent, E. coli in 13,9 percent, Campylobacter in 2,3 percent, Giardia lamblia in 12,4 percent and E. hitolytica in 7 percent. The causative agent could not be identified in 15,5 percent of cases. The statistical association grew with age for Rotavirus (p<0.01), E. coli (p<0.05) and campylobacter (p<0.001). Conclusion Rotavirus is the major causative agent of ADD in children younger than one year and, generally, in children aged less than five. The prevalence found was similar to data reported in studies carried out in Facatatativá, Bogotá, Santander, Manizales and the Chocó in Colombia and studies carried out in Venezuela, Peru and Mexico.