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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)
UNLABELLED The impact of type 1 Gaucher disease and its therapy on health-related quality of life (QOL) was investigated and the results were compared with a Spanish adult normative group. PATIENTS AND METHODS Between January 1998 and December 2002, a prospective clinical QOL trial was conducted by application of a Spanish version of the Health Survey(More)
OBJECTIVES To determine the relationship between admission blood pressure (BP) and prognosis in patients hospitalized for acute decompensated heart failure (HF). BACKGROUND The relationship between BP admission blood pressure and outcomes in decompensated HF is controversial. It has been suggested that this presentation may be a specific disorder, but(More)
BACKGROUND Gaucher's disease is the most common lysosomal storage disorder, caused by deficiency of glucocerebrosidase resulting from homozygosity for any of several mutations of the glucocerebrosidase gene locus. Affected people have decreased concentrations of LDL cholesterol (LDL-C) and HDL cholesterol (HDL-C). We assessed the association between(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)
To study glucocerebrosidase mutations causing Gaucher disease, we have screened 30 apparently unrelated patients for the presence of 7 previous described mutations. N370S (1226A>G) was the most common mutation (43%), followed by L444P (1448T>C) (23%). To identify the other unknown mutations, we screened regions of the glucocerebrosidase gene (GBA), by SSCP(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)
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)