Functional assessment of the BMPR2 gene in lymphoblastoid cell lines from Graves' disease patients.

In this study, we analysed the possible influence of the c.419-43delT BMPR2 variant in patients with Graves' disease (GD), in a molecular basis, focusing our efforts on possible alterations in the mRNA processing and synthesis. The molecular assessment of this variant in patients with GD would shed light on the association between the BMPR2 gene and the disease. The variant was detected in 18%, 55% and 10% of patients with pulmonary arterial hypertension, GD and in general population, respectively. Patients with GD fold change showed increased BMPR2 expression when matched against the controls, with a mean of 4.21 ± 1.73 (P = 0.001); BMPR2 was overexpressed in the analysed cell cycle stages. Fold change analysis of variant carriers and non-carriers showed slight overexpression and differences between phases, but none of them were statistically significant. BMPR2 expression was confirmed in the lymphoblastoid cell lines (LCLs) with a molecular weight of 115 kD, and no differences between variant carriers and non-carriers were detected. To conclude, the BMPR2 variant c.419-19delT appears in high frequency in patients with GD, and independently of its presence, BMPR2 is overexpressed in the LCLs from the GD patients tested. This increase could be paired with the described decreased expression of transforming growth factor-ß1 in thyroid tissue from patients with GD.

Factors influencing the outcome of patients with incidental papillary thyroid microcarcinoma.

Objective. To analyze some factors that could influence the outcome of patients with PTMC. Material and Methods. This is a longitudinal observational study. All patients diagnosed and treated for papillary thyroid microcarcinoma at the University Hospital of Vigo, between January 1994 and December 2003, were included in the present study. Demographic characteristics, tumour characteristics, TNM stage, rate of recurrence, and treatment with (131)I were the study variables. Results. Ninety-one patients (75 females) with an average age of 47.7 ± 13.4 years, range 19-81, were studied. Initial tumour staging was T1 in 90 patients and T4a in 1 case. Initial lymph node involvement was present in 4 cases (4.4%). We only found one case with distant metastases at diagnosis. Postsurgical evaluation of thyroid specimens revealed that 28 (30.7%) tumours were multifocal. The average size of the tumour was 0.44 ± 0.25 cm, range 0.1-1. Univariate analysis reveals a statistically significant association between tumour multifocality and postsurgical (131)I therapy with the recurrence rate. In the multivariate analysis only multifocality (P = 0.037, HR 5.7) was a significant risk factor for the recurrence rate. Conclusions. Our results indicate that tumour multifocality is an independent predictor of relapse but neither the tumour size nor postsurgical (131)I therapy.

Prevalencia de signos de neuropatía diabética en una muestra de diabéticos tipo 2 del Área Sanitaria de Ferrol / Prevalencia of diabetic neuropathy signs in a simple of type 2 diabetics from the Health Area of Ferrol

Las actuales cifras hablan de costes millonarios para el tratamiento de las complicaciones de la Diabetes Mellitus (DM). Concretamente, la Asociación Americana de Diabetes (ADA) estima que en 2007 los costes directos e indirectos derivados de la DM en EE.UU ascendieron a 174 billones de dólares. De entre los factores de riesgo identificados por la ADA implicados en el desarrollo del pie diabético la neuropatía diabética periférica (NDP) se ha revelado como una afección de difícil diagnostico debido en gran parte a la escasez de sintomatología con que se presenta. Este hecho sumado a la poca atención que generalmente se le presta en la exploración clínica dificulta su pronta identificación y en consecuencia retrasa el tratamiento y la modificación de hábitos que eviten a largo plazo complicaciones mayores. Por estos motivos son cada Vez mas necesarias nuevas herramientas de diagnóstico precoz que puedan ser empleadas ambulatoriamente en la consulta. En el presente trabajo los autores han identificado signos de neuropatía diabética (componente sensitivo y autónomo) en una muestra de 181 diabéticos tipo 2 según criterios de la ADA de 2004 pertenecientes al Área Sanitaria de Ferrol empleando el diapasón graduado Rydel Seiffer y un nuevo test Visual (Neuropad®) de Valoración de la función sudoral del pie. Además se ha evaluado la presencia de tres factores de riesgo cardiovascular asociados a la diabetes mellitus tales como hipertensión arterial, hipertrigliceridemia y un índice tobillo-brazo patológico. La prevalencia de déficit de sensibilidad vibratoria utilizando el diapasón graduado Rydel Seiffer fue del 79%, en tanto que mediante el test Neuropad® las cifras de prevalencia de disfunción sudoral compatible con la afectación periférica del sistema nervioso autónomo fut: del 64,6%. En el total de la muestra se ha hallado una elevada prevalencia de factores de riesgo cardiovascular asociados a la diabetes mellitus: hipertensión arterial (60,7%), hipertrigliceridemia (57,4%) e índice tobillo-brazo patológico (68,5%) (AU)

It is actually estimated that diabetic complications have millionaire costs. The American Diabetes Association believes that in 2007 direct and indirect costs of Diabetes Mellitus were about 174 billion dollars in the U.S. One of the risk factors identified by the ADA involved in the development of the diabetic foot syndrome is diabetic neuropathy. Its complex diagnosis is due in part to the very few symptoms displayed and because of the little attention payed in the clinical examination. All these factors difficult its early diagnosis and in consequence setting up an appropriate treatment and a new healthy lifestyle avoiding long-term complications. For these reasons new simple, inexpensive, ambulatory diagnostic tools are necessary. In this cross-sectional study the authors have identified diabetic neuropathic signs (sensory and autonomic signs) using the graduated Rydel-Seiffer tuning fork and a new visual test (Neuropad®) based on the assessment of the foot sweat glands function in 181 type 2 diabetic patients (according to ADA criteria). Furthermore, prevalence of three cardiovascular risk factors was evaluated: arterial hypertension, hypertriglyceridemia and a pathological ankle brachial index. Prevalence of neuropathic signs using the graduated Rydel-Seiffer tuning fork was 79%. In contrast, using Neuropad® test the prevalence of sudomotor dysfunction compatible with peripherical affection of the autonomic nervous system was 64,6%. In the whole sample, we have found a high prevalence of cardiovascular risk factors associated with Diabetes Mellitus: 60,7% prevalence of arterial hypertension, S7,4% prevalence of hypertriglyceridemia and a 68,5% prevalence of pathological ankle brachial index (AU)

Time trends for thyroid cancer in northwestern Spain: true rise in the incidence of micro and larger forms of papillary thyroid carcinoma.

BACKGROUND: Thyroid cancer incidence is increasing throughout the world. Most studies attribute this rise entirely to the increase in papillary carcinoma, the most common thyroid malignancy in iodine-sufficient areas. A variety of nonetiological factors such as changes in clinical practice may affect the incidence of thyroid cancer and some researchers have suggested that this rise is only apparent due to an increase in diagnostic activity. Since data on the epidemiology of thyroid cancer in Spain are scarce, the main goal of this study was to analyze changes in thyroid cancer presentation, incidence, and prevalence in Vigo (northwestern Spain) between 1978 and 2001, and to investigate the relationship between the incidence rates and trends in tumor size and thyroid surgery. METHODS: In this descriptive epidemiologic study, an analysis was carried out on new thyroid cancer cases obtained from the Pathology Registry of the University Hospital of Vigo (500,000 inhabitants). Trends in age, sex, thyroid surgery, histological type, tumor size, and incidence rates were calculated. The prevalence of thyroid cancer was determined in three cross-sectional surveys. RESULTS: The rate of population undergoing thyroid surgery significantly increased over time. Out of 322 new primary thyroid cancers, papillary thyroid cancer (PTC) was the predominant type (76%). The age-standardized incidence rate shows a significant increase in females: 1.56 per 100,000 year (1978 to 1985) to 3.83 (1986 to 1993) and 8.23 (1994 to 2001); and in males: 0.33, 1.19, and 2.65, respectively. PTC was mainly responsible for this pattern and was the result of both the increase in micropapillary thyroid carcinoma (MPTC) incidence and in PTC measuring more than 1 cm. Besides MPTC cases, no significant variations were observed in tumor size over time. CONCLUSIONS: In northwestern Spain, the incidence of thyroid cancer is increasing. These data should be taken into account when planning health resources for these patients. Our results may reflect the contribution that other factors, besides increased diagnostic activity, have made to the rise in thyroid cancer incidence in our region. Additional studies are needed to explain the rise in PTC incidence throughout the world and to search for potential risk factors that are currently unrecognized.