J. Pérez-Calvo

Learn More
BACKGROUND AND OBJECTIVES Since 1993 the demographic, clinical, analytical, genetic and follow-up data of Spanish patients with Gaucher's disease (GD) have been collected in an anonymous national database. Some statistical analyses of these data are reported concerning the distribution, clinical and genetic characteristics of GD in Spain and the response to(More)
AIMS This study was conducted to determine whether galectin-3 (Gal3), a β-galactoside-binding lectin, has usefulness to predict outcomes in patients with heart failure (HF) and preserved left ventricular ejection fraction (LVEF). METHODS AND RESULTS We measured Gal3, urea, creatinine and natriuretic peptides on admission in 419 selected patients with HF(More)
BACKGROUND The prognostic value of NT-proBNP levels in patients admitted to hospital due to acute exacerbations of chronic pulmonary diseases (CPDs) is unknown. SETTING Internal Medicine units at two general hospitals. METHODS NT-proBNP levels were obtained within 72 h after admission in 192 consecutive patients with acute exacerbations of CPDs and no(More)
BACKGROUND AND OBJECTIVES Chitinases are enzymes that hydolyze chitin and have been found in a wide variety of nonvertebrate species; recently an human analogue of chitinases, chitotriosidase (CT) has been identified. Extreme elevations of plasma CT activity are observed in patients with Gaucher disease (GD), being Gaucher cells the source of the CT. It has(More)
SHORT INTRODUCTION Gaucher's disease (GD) is an autosomal recessive disease produced by mutations of the Glucocerebrosidase gene. Carriers are considered to be healthy subjects because there is no manifestation of the disease, but they show signs of macrophage disfunction. The aim of the study was to determine if GD patients and non affected carriers risk(More)
BACKGROUND AND OBJECTIVE Gaucher's disease (GD) is a lysosomal storage disorder, caused by a deficiency of the acid -glucocerebrosidase enzyme, which results in accumulation of lipids within macrophages. GD patients show decreased plasma total cholesterol (TC), low-density lipoprotein cholesterol (LDL-c) and high-density lipoprotein cholesterol (HDL-c)(More)
AIM To evaluate the efficacy of the treatment with alglucerase (Ceredase) in spanish patients diagnosed of Gaucher disease type 1 (GD). PATIENTS AND METHODS A national inquiry has been performed among the hospitals with GD's patients on therapy. A form including pretherapy haemoglobin, platelet levels, liver and spleen size and bone lesions was submitted(More)
BACKGROUND Enzyme replacement therapy (ERT) for Gaucher's disease with alglucerase or imiglucerase is efficacious, well-tolerated and safe. However, cost considerations, visits to medical facilities, potentially duration of theray for life, are issues of major concern to a proportion of treated patients and has, in some cases, led to the withdrawal of(More)
Gaucher disease is an autosomal recessive disorder caused by mutations in the lysosomal beta-glucocerebrosidase (GBA) gene. Gaucher disease is a very heterogeneous entity due to the large number of different mutations existing in the GBA gene, resulting in a defective protein whose impaired activity is the cause of the disease. We present a mutation(More)
Bronchiolitis obliterans organizing pneumonia (BOOP) is a pulmonary disorder with a wide spectrum of radiologic features. Usually, these are bilateral, patchy, alveolar, or ground-glass infiltrates, but other presentations have also been described. We present a case in which the radiologic appearance was a cavitated pulmonary solitary nodule. We think that(More)