Gabriela Schaeffer

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Congenital diaphragmatic hernia (CDH) is a common birth defect with a high mortality and morbidity. There have been few studies that have assessed copy number changes in CDH. We present array comparative genomic hybridization data for 29 CDH patients to identify and map chromosome aberrations in this disease. Three patients with 15q26.1-15q26.2 deletions(More)
1. Experiments were designed to determine whether anandamide affects cytosolic Ca2+ concentrations in endothelial cells and, if so, whether CB1 cannabinoid receptors are involved. To this effect, human umbilical vein-derived EA.hy926 endothelial cells were loaded with fura-2 to monitor changes in cytosolic Ca2+ using conventional fluorescence spectrometry(More)
PURPOSE Sotos syndrome is a genetic disorder characterized primarily by overgrowth, developmental delay, and a characteristic facial gestalt. Defects in the NSD1 gene are present in approximately 80% of patients with Sotos syndrome. The goal of this study was to determine the incidence of NSD1 abnormalities in patients referred to a clinical laboratory for(More)
Hyperlipidemia represents a major risk factor for development of vascular dysfunction and atherosclerosis. Although the unfortunate role of low-density lipoprotein has been clearly demonstrated, the mechanistic pathways through which triglyceride-derived free fatty acids (FFAs) contribute to vascular disorders are not completely understood. Thus, the(More)
In 40 unselected RDT patients (20 center and 20 home dialysis patients) the intake of nutrients was measured using the precise weighing method of Wirths [1969]. The protein intake was found to be 0.97 plus or minus 0.19 g/kg predialysis body weight, the calorie intake 32.3 plus or minus 6.4 cal/kg. Two thirds (0.65 plus or minus 0.15 g/kg) of the protein(More)
Serum free and esterified carnitine levels as well as lipids were investigated in patients undergoing regular hemodialysis (HD) treatment before and during 12 weeks of treatment with L-carnitine (1 g i.v.) at the end of each HD. The results were compared with those obtained in patients on continuous ambulatory peritoneal dialysis (CAPD; n = 15) or(More)
Increased aggregation of platelets might contribute to the development of vascular complication in diabetes mellitus. In this study release of superoxide anions, intracellular Ca2+ signalling and nitric oxide formation stimulated by the receptor-dependent agonist adenosine 5 ′-diphosphate (ADP) and the receptor-independent stimulus thapsigargin, were(More)
Diabetes mellitus is associated with endothelial dysfunction in human arteries due to the release of superoxide anions (·O2 –) that was found to occur predominantly in smooth muscle cells (SMC). This study was designed to elucidate the impact of high glucose concentration mediated radical production in SMC on EC. Pre-treatment of vascular SMC with increased(More)
Forty-one persons suffering from asthma (aged 20 to 55; duration of disease: greater than or equal 2 years) were divided into 2 groups and participated in courses of instruction in autogenic training. The control group was comprised of 14 patients. The effects of autogenic training on the maximum rate of expiration as well as the limiting respiratory value(More)