[Surveillance of rare diseases in Spain: Spanish Registry of Rare Diseases (ReeR).].

Traditionally, epidemiological surveillance has focused on infectious diseases, but the concept of Public Health surveillance, introduced in Spain with the Law 33/2011, is broader and includes chronic diseases. Health strategies for these diseases need epidemiological information to improve understanding of socio-health needs and to facilitate the efficient management of resources. The European Union defines rare diseases (RD) as those that, being life-threatening or chronically debilitating, have a prevalence of less than 5 cases per 10,000 inhabitants.

Bayesian analysis of the geographical variation of type 1 diabetes mellitus in under 15 yr olds in northeast Spain, 1991-2009.

Objective: High variability has been observed in type 1 diabetes mellitus (DM1) incidence rates (IRs) in childhood. The aim of this study was to characterize DM1 in Aragón and to identify variations in the geographical pattern by gender.

Methods: A descriptive and ecological study was conducted to determine geographical variations in the DM1 incidence for the period 1991-2009.

[Men inequalities and liver cirrhosis mortality (Zaragoza, Spain, 1996-2003)].

Objectives: The aim of this study was to identify geographical differences in mortality from liver cirrhosis in men living in the province of Zaragoza, Spain, as well as its possible association with socioeconomic factors. The utility of the MEDEA project's deprivation index in rural areas was also explored.

Methods: Census tracts were used in Zaragoza city as analysis units and municipalities were used for the rest of the province.

Compound heterozygous mutations in the gamma-glutamyl carboxylase gene cause combined deficiency of all vitamin K-dependent blood coagulation factors.

Hereditary combined deficiency of the vitamin K-dependent coagulation factors II, VII, IX, X, protein C, S and protein Z (VKCFD) is a very rare autosomal recessive inherited bleeding disorder. The phenotype may result from functional deficiency of either the gamma-glutamyl carboxylase (GGCX) or the vitamin K epoxide reductase (VKOR) complex. We report on the third case of VKCFD1 with mutations in the gamma-glutamyl carboxylase gene, which is remarkable because of compound heterozygosity.

Therapeutic vaccination against metastatic renal cell carcinoma by autologous dendritic cells: preclinical results and outcome of a first clinical phase I/II trial.

In this study we have presented in vitro data and results of a preliminary clinical trial using dendritic cells (DC) in patients with progressive metastatic renal cell carcinoma. DC precursor cells were obtained from peripheral blood mononuclear cells (PBMC). DC were pulsed with autologous tumor cell lysate if available.