RESUMEN
Citrus genus is the most important fruit tree crop in the world and lemon is the third most important Citrus species. Several studies highlighted lemon as an important health-promoting fruit rich in phenolic compounds as well as vitamins, minerals, dietary fiber, essential oils and carotenoids. Lemon fruit has a strong commercial value for the fresh products market and food industry. Moreover, lemon productive networks generate high amounts of wastes and by-products that constitute an important source of bioactive compounds with potential for animal feed, manufactured foods, and health care. This review focuses on the phytochemistry and the analytical aspects of lemon compounds as well as on the importance for food industry and the relevance of Citrus limon for nutrition and health, bringing an overview of what is published on the bioactive compounds of this fruit.
Asunto(s)
Citrus/química , Alimentos , Frutas/química , Salud , Animales , Carotenoides/análisis , Carotenoides/química , Fibras de la Dieta/análisis , Industria de Alimentos , Humanos , Minerales/análisis , Minerales/química , Valor Nutritivo , Aceites Volátiles/análisis , Aceites Volátiles/química , Fenoles/químicaRESUMEN
The classical form of congenital adrenal hyperplasia is the result of mutations in the 21-hydroxylase gene (CYP21A2). Most deficient alleles carry pre-existing mutations in the CYP21PA homologue pseudogene, located in tandem. Mutant alleles are inherited from carrier parents, and de novo mutations during gametogenesis or foetal development are exceptional. The present paper describes a de novo mutation occurring at the maternal allele (I172N) of a patient with a classical form of 21-hydroxylase deficiency, whose father was heterozygous for R356W. The mother did not carry the mutation. Microsatellite analyses confirmed a correct allelic segregation. The I172N mutation (in compound heterozygosity with a null mutation) gives rise to a virilizing phenotype not associated with salt-wasting.
Asunto(s)
Síndrome Adrenogenital/genética , Mutación , Esteroide 21-Hidroxilasa/genética , Femenino , Humanos , Recién NacidoAsunto(s)
Hiperplasia Suprarrenal Congénita/genética , Mutación , Femenino , Humanos , Recién Nacido , LinajeRESUMEN
A case of metatropic dysplasia is presented, stressing the utility of prenatal diagnosis.