Niveles de vitamina D en adultos mayores saludables chilenos y su relación con desempeño functional / Vitamin D levels in older healthy Chilean adults and their association with functional performance

Background: People over 60 years old are at risk of Vitamin D deficiency, which can affect functional performance, since this vitamin is involved in muscle function and protein synthesis. Aim: To measure 25OH vitamin D levels in healthy older people from Santiago de Chile, and evaluate their relationship with functional performance. Subjects and Methods: Healthy subjects aged 60 years or more and living in the community were invited to participate. People with chronic diseases, cognitive impairment, physical disability, smokers and those consuming more than three medications per day were excluded. Hand grip and gait speed were measured and a blood sample was obtained to measure 25OH vitamin D by radioimmunoanalysis. Results: One hundred and four participants aged 60 to 98 years (55% females) were studied. Mean vitamin D levels were 17.3 ± 6.1 ng/mL. Females had lower levels than males (15.6 ± 5.8 and 19.2 ± 6.0 ng/mL respectively p < 0.01). Eighty three percent of females and 55.3% of males had values below 20 ng/mL (the cutoff point for deficiency). Only 3.5% of females and 8.5% of males had values of 30 ng/ml or higher. There was a significant correlation between vitamin D levels, gait speed and grip strength (r = 0.32 and 0.34 respectively, p < 0.01), especially in women over 74 years. Conclusions: Vitamin D deficiency is almost universal in healthy adults over 60 years living in Santiago de Chile, especially in women. This deficiency is associated with a deranged functional performance and is a potentially modifiable risk factor for disability.

Mutaciones del gen del receptor 3 del factor de crecimiento de fibroblasto (FGFR3) en pacientes chilenos con talla baja idiopática, hipocondroplasia y acondroplasia / 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). Hypochondroplasia represents a greater clinical and genetic heterogeneity, possibly being confused with "idiopathic short stature". The N540K mutation has been detected in 50-70% of cases of hypochondroplasia and mutations at the 650 locus in approximately 2.8%. Aim: To assess the frequency of N540K and G380R mutations, and changes at the 650 locus in Chilean patients with idiopathic disproportionate short stature, hypochondroplasia and achondroplasia. Patients and Methods: We studied 21 patients referred for idiopathic short stature, 5 with clinically suspected hypochondroplasia and 4 with achondroplasia. The G1138A, G1138C (G380R), and C1620, C1620A (N540K) mutations and the nucleotide changes at the 650 locus were studied using PCR and restriction analysis of genomic DNA. Results: Three out of five hypochondroplasia patients were heterozygous for the N540K mutation. All of the 4 patients with achondroplasia presented the G1138A mutation. None of these mutations were found in patients with idiopathic short stature. Conclusion: Chilean patients with hypochondroplasia and achondroplasia have the same mutations described in other ethnic groups. The identification of mutations in 3 out of 5 patients with hypochondroplasia shows that this analysis is a useful tool for its diagnostic confirmation. In short stature the molecular study should only be indicated in those cases presenting other clinical and/or radiological features of hypochondroplasia (Rev Méd Chile 2003; 131: 1405-10).

Uso clínico del Ca-125 en ginecología: experiencia preliminar / Clinical use of CA-125 in gynecology. Preliminary experience

Se determinaron los títulos de Ca-125 en 27 pacientes normales, 11 pacientes con patología ginecológica benigna y 13 pacientes con cáncer ovárico en diferentes períodos de la evolución de su enfermedad. El análisis de los datos se hizo restrospectivamente. Considerando como normal un título de 65 U/ml, no hubo falsos positivos. Las pacientes con patologías ginecológicas benignas se comportan como las normales cuyos títulos no difieren de aquellas significativamente. Los títulos mayores a 65 U/ml correspondieron siempre a pacientes con cáncer ovárico. Hubo cuatro pacientes con título negativo y enfermedad reconocible clínica o quirúrgicamente. Los títulos positivos se correlacionaron con el tipo histológico y con el estadio quirúrgico de la enfermedad. En las pacientes con títulos seriados, la disminución del volumen tumoral se correlacionó con una disminución en los títulos. Estos datos surgieron que el Ca-125 se comporta en nuestra experiencia como en otras publicadas. Es de utilidad en el seguimiento, manejo y pronóstico de las pacientes con títulos positivos. Su negativización no garantiza curación y los títulos positivos aseguran la presencia de enfermedad. Tiene poco valor como método diagnóstico por su baja sensibilidad

Receptores citoplasmaticos de estrogeno y progesterona en miometrio normal / Estrogen citoplasmic receptors and progesterone in normal miometrium

Se determina la concentración de receptores citoplasmáticos de estrógeno en miometrio normal del cuerpo y del cuello uterino en 15 mujeres, y la de receptores de progesterona en siete. La determinación de receptores se efectúa mediante radioinmunoensayo de acuerdo con la técnica recomendada por Bradford. Se demuestra que la concentración de recptores de estrógeno y de progesterona es significativamente menor en el cuello que en el cuerpo uterino (p = 0,03 y 0,016, respectivamente). Se observa que las concentraciones mayores de receptores de estrógeno corresponden con las menores de receptores de progesterona. En ocho pacientes se determinó estradiol plasmático: no se pudo establecer correlación con la concentración de receptores de estrógeno