Successful mortality reduction and control of comorbidities in patients with acromegaly followed at a highly specialized multidisciplinary clinic.

CONTEXT: Acromegaly is usually due to the excessive secretion of GH by a pituitary adenoma. It is frequently accompanied by comorbidities that compromise quality of life and results in elevated mortality rates. OBJECTIVE: To evaluate mortality and morbidity in patients with acromegaly receiving multimodal care. SETTING: Tertiary care center. DESIGN, PATIENTS, AND METHODS: Retrospective evaluation of 442 patients (65.4% women; mean age, 43.5 ± 13.1 y) followed for a median of 6 years (interquartile range [IQR], 3-10). RESULTS: Twenty-two patients died during the study period (4.9%), representing a total standardized mortality ratio (SMR) of 0.72 (95% confidence interval [CI], 0.41-1.03). Standardized mortality ratios were 1.5 and 0.44 for patients whose last GH was above and below 2.5 ng/mL, respectively; 1.17 and 0.16 for those whose last GH was above and below 1 ng/mL, respectively; and 0.94 and 0.46 for those whose last IGF-1 was above and below 1.2 times the upper limit of normal (ULN), respectively. The prevalence of diabetes mellitus, hypertension, heart disease, and cancer was 30%, 35%, 8%, and 4.7%, respectively. The most common cause of death was cancer. On multivariate analysis, diabetes, heart disease, and cancer were related to a baseline GH > 10 ng/mL; the presence of cancer and the last IGF-1 were significant predictors of mortality. Survival decreased as the latest GH levels increased from < 1 ng/mL to > 5 ng/mL and as IGF-1 increased from < 1.2 to > 2 times the ULN. CONCLUSIONS: Mortality in acromegaly can be successfully reduced, provided patients are treated using a multimodal approach with careful management of comorbidities.

[Elevated stimulated thyroglobulin levels in the identification of persistent papillary thyroid carcinoma]. / Importancia de las elevaciones moderadas en la tiroglobulina estimulada en la identificación de persistencia de carcinoma papilar de tiroides.

BACKGROUND: Persistence of papillary thyroid carcinoma is usually associated with elevated stimulated thyroglobulin levels. AIM OF THE STUDY: To evaluate the association between moderately elevated stimulated thyroglobulin levels and the persistence of papillary thyroid carcinoma one year after thyroidectomy and radioiodine ablation. METHODS: Out of a cohort of 97 patients with papillary thyroid carcinoma, we selected those with available stimulated thyroglobulin level measurements (in the absence of thyroglobulin antibodies) after one year of initial treatment with surgery and radioiodine. The subjects were stratified according to whether the stimulated thyroglobulin level was between 1-10 ng/ml or above 10 ng/ml. RESULTS: Twenty-seven patients were included in the study, 11 with a stimulated thyroglobulin level between 1-10 ng/ml, and 16 with values greater than 10 ng/ml. Median age and gender proportion was similar between both groups. As expected, median stimulated thyroglobulin levels were significantly greater in the second group (5.1 vs. 42 ng/ml; p < 0.001). A stratified analysis aiming at associating stimulated thyroglobulin levels with disease persistence yielded an overall risk of 0.58 (95% CI: 0.1-3.09; p = 0.52) for those subjects with levels between 1-10 ng/ml, while for those with levels > 10 ng/ml the overall risk was 1.71 (95% CI: 0.32-9.1; p = 0.52). The positive predictive value for a stimulated thyroglobulin level between 1-10 ng/ml was 64%. CONCLUSION: A moderately elevated stimulated thyroglobulin level is an uncertain predictor of papillary thyroid carcinoma persistence.

Dos nuevas mutaciones y tres nuevos polimorfismos en el gen del retinoblastoma en población ecuatoriana / Two new mutations and three new polymorphisms in the gene of retinoblastoma in Ecuadorian population

El cáncer es una enfermedad de origen genético y para comprender mejor los diferentes mecanismos que conllevan a su desarrollo es necesario el estudio de los genes y mutaciones. El retinoblastoma es el tumor de ojo más frecuente de la infancia y se desarrolla a partir de mutaciones en el gen Rb1; estas mutaciones pueden ser de origen hereditario en el 40 por ciento de los casos y espontáneo en el 60 por ciento de los casos. En la actualidad, se dispone de análisis moleculares para determinar origen y así poder brindar un mejor asesoramiento genético. En el presente estudio se analizaron muestras de 31 pacientes de diferentes regiones del Ecuador. Se realizaron 840 reacciones de PCR (reacción en cadena de la polimerasa)...

Two new mutations and three novel polymorphisms in the RB1 gene in Ecuadorian patients.

RB1 is the gene responsible for retinoblastoma, the most common malignant intraocular tumor of infancy and early childhood. There are no reports about this gene in Ecuadorian populations, and only a few studies have been published in Latin America about this subject. There is a spectrum of more than 370 mutations described in the RB1 gene mutation database (http://www.d-lohmann.de/Rb/mutations.html), and alterations have been found in 25 of the 27 exons. During the exon-by-exon analysis of 31 tumor and blood samples from Ecuadorian patients, we found two new mutations and three novel polymorphisms. One of the polymorphisms is located in intron 26 where no alterations of the gene have been described previously. The polymorphisms were found in all of the patients' tumor samples, but not in normal population, suggesting there might be a relationship between these polymorphisms and the development of retinoblastoma in the Ecuadorian population.