RESUMO
Introduction: intake of Folic Acid (FA) before conception and during early pregnancy reduces the incidence of neural tube defects (NTD). In Chile the management of the pregnant adolescent women is a relevant public health problem. So, the aim of this study was to determine the level of knowledge and intake of FA in a sample of adolescent and older parturient. Methods: a survey was conducted in one group of teenagers (group A) and another group of older puerperal (group B) corresponding to four public maternities of Santiago. Results: finally, 79 teenagers and 263 older women were surveyed. Both groups showed a poor knowledge about the benefit of intake of FA during this period. Regarding the control before pregnancy, we found an attendance of 10.1 percent in the group A and 24.7 percent in the group B, whereas only 5.1 percent of the group A and 1.9 percent of the group B had an intake of FA according to the medical recommendation. Conclusion: our patients have scanty information about the benefits of the periconceptional intake of FA. It seems necessary to design new methods and tools in order to increase the use of the FA in women of childbearing age, especially in the groups at risk for NTD.
Assuntos
Humanos , Adolescente , Adulto , Feminino , Gravidez , Ácido Fólico/administração & dosagem , Ácido Fólico/metabolismo , Anormalidades Congênitas/prevenção & controle , Gravidez na Adolescência/estatística & dados numéricos , Gravidez na Adolescência/fisiologia , Gravidez/estatística & dados numéricos , Nutrição da GestanteRESUMO
BACKGROUND: Congenital dental anomalies can affect up to 25% of the population. AIM: To report the genetic study of a family with dental anomalies. MATERIAL AND METHODS: We studied a Chilean family presenting with three independent dental phenotypes: third molar agenesis, supernumerary teeth, and dentinal dysplasia type I. We searched for mutations in candidate genes proposed for tooth agenesis and supernumerary teeth: IRF6, FGFR1, MSX1, MSX2, PAX9, PRDM16 and TGFA. We also studied DSPP as a candidate gene for dentinal dysplasia type I. RESULTS: We did not find mutations in FGFR1, MSX2, PAX9, PRDM16, or TGFA. We found a MSX1 mutation (G16D) in both affected and unaffected family members. Also, we found a genetic variation not described before in IRF6 in the dentinal dysplasia type I case. CONCLUSIONS: Further investigation is necessary to evaluate if these variants are functional in nature. Finally, we are reporting a mutation in DSPP in an asymptomatic 2-year-old child, which illustrates the ethical pitfalls of interpreting molecular data for genetic counseling of young and/or asymtomatic individuals.
Assuntos
Anodontia/genética , Displasia da Dentina/genética , Mutação/genética , Dente Supranumerário/genética , Dente Pré-Molar/anormalidades , Chile , Família , Feminino , Marcadores Genéticos/genética , Humanos , Masculino , Linhagem , FenótipoRESUMO
La progeria o síndrome de Hutchinson-Gilford es un síndrome poco frecuente. Consiste en la aparición de signos de envejecimiento en niños entre su primer y segundo año de vida. La mayoría de los casos de progeria son esporádicos, lo cual plantea la posibilidad de un patrón de herencia autosómico dominante por mutación de novo. El diagnóstico diferencial de esta entidad debe plantearse con cualquiera de los otros síndromes progeroides descritos en la literatura. Se presenta una revisión actualizada sobre el tema haciendo énfasis en la aproximación diagnóstica del cuadro