[A novel method for targeting and characterizing healthy older people].

Background: there is no established definition of healthy aging in clinical practice, although it is a World Health Organization goal.

Aim: to develop a clinical protocol to identify healthy older people living in the community and study their clinical, laboratory and functional characteristics.

Material And Methods: healthy people aged 60 years or older, were invited to participate in the study, by newspapers and radio, if they selfperceived as healthy, lived in the community, were functionally independent and had low disease burden.

[Mutations in the Fibroblast Growth Factor Receptor 3 gene (FGFR3) in Chilean patients with idiopathic short stature, hypochondroplasia and achondroplasia].

Background: Achondroplasia and hypochondroplasia are skeletal dysplasias of autosomal dominant inheritance that represent different degrees of severity of the same pathological entity. Both dysplasias are caused by mutations in the Fibroblast Growth Factor Receptor 3 (FGFR3) gene. In achondroplasia more than 95% of the cases studied to date carry the same mutation (G380R).

Ketoconazole alters cyclosporine pharmacokinetic profile and may predispose to acute rejection.

Ketoconazole (KET) is frequently used as a cyclosporine (CyA)-sparing agent. Adequate exposure to CyA is critical to avoid acute rejection (AR) or chronic rejection (CR). We compared the pharmacokinetic profiles of nine stable renal transplant patients on CyA before and after conversion to KET (200 mg/d of KET simultaneous with CyA).

Y chromosome sequences in Turner's syndrome: association with virilization and gonadoblastoma.

Unlabelled: The presence of Y chromosome fragments in patients with Turner's syndrome is known to increase the risk of gonadoblastoma and virilization. Y chromosome material is detected in up to 6% of patients with Turner's syndrome by karyotype. By DNA analysis, Y chromosome sequences have been reported in 0-60% of patients.

[Correlation between phenotype and genotype in a group of patients with cystic fibrosis].

Background: Cystic fibrosis (CF) is the most common lethal autosomic disease in Caucasians, with a global incidence of 1:3000 newborns. More than 900 mutations have been described, involving the Cystic Fibrosis Transmembrane Regulator (CFTR). The delta F508 mutation is present in 60% of alleles studied worldwide.