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Carrasco Moreno J.I.,Polytechnic University of Valencia | Insa Albert B.,Polytechnic University of Valencia | Boni L.,Hospital Universitari litecnic la Fe
Revista Espanola de Pediatria

Pediatric Cardiology is the specialty that is in charge of the comprehensive care of the child with congenital or acquired heart disease of the cardiovascular system. It applies cardiologic medical-surgical knowledge in an extensive period of human life, which has been extending towards the fetal period, on the one hand, and beyond adolescence, on the other, as the survival of patients with heart disease increases. The University Hospital La Fe has a Pediatric Cardiology and Cardiac Surgery medical-surgical unit, with more than 40 years of experience in the care of these patients with heart disease. Both sections, as reference units, receive patients from the entire Valencian Community (the population of the Valencian Community has almost 5 million inhabitants including 762,538 children between 0 and 14 years (INE, January 2013). As a tertiary center, it has equipment and personnel that are prepared to carry out all the current diagnostic and treatment techniques. Both pediatric cardiologists and heart surgeons as well as the rest of the hospital services, especially Neonatology, Intensive Care and Anesthesia as well as Arrhythmias and Adult Congenital Health Disease units are involved in this task. Beginning with the description of the activity of the Cardiology and Child Cardiac Surgery Sections of the Hospital La Fe, this article reviews the area of action of Pediatric Cardiology and some of its aspects that have undergone significant changes in recent decades. Source

Forner-Cordero I.,Hospital Universitari litecnic la Fe | Munoz-Langa J.,University of Valencia
European Journal of Lymphology and Related Problems

The efficacy of Decongestive Lymphatic Therapy (DLT) in reducing the excess volume of the lymphedematous limb has been reported between 22% to 73%. The aim of this paper is to review the literature about the factors predicting the outcomes of DLT. The influence of patient's weight and the body mass index in the result of DLT is controversial. The extension of lymphadenectomy is related with a worse response to DLT. Excess Volume is a proved factor that negatively affects the results. Patient's compliance to the bandage is one of the most important predictive factors of response to DLT. Source

Juan O.,Hospital Universitari litecnic la Fe | Vidal J.,Clinical Laboratory | Gisbert R.,Clinical Laboratory | Munoz J.,Hospital Dr Peset | And 2 more authors.
Clinical and Translational Oncology

Purpose: To evaluate the association in the change of circulating tumor cell (CTC) levels and clinical outcomes (PFS and OS) in patients with advanced non-small cell lung cancer (NSCLC) treated homogenously with docetaxel and gemcitabine administered every 2 weeks. Methods: We prospectively evaluated 37 patients for CTC levels at baseline and after 2 months of chemotherapy (before third cycle). Detection was carried out with the CellSearch system. Results: Nine of the 37 patients (24%) had ≥2 CTCs at the baseline determination. Median progression-free survival (PFS) was 4.3 months (95% CI 2.5-8.3) for patients with CTC 0-1 as compared to 9.4 months (95% CI 1.2-12.2) for those with CTC ≥2 (p = 0.3506). Median overall survival (OS) was 8.1 (95% CI 2.8-16.3) and 12.2 (95% CI 1.4-12.2) months for patients with 0-1 CTCs and ≥2 CTCs, respectively (p = 0.7639). Patients with a second CTC quantification were classified as: group 1, CTC = 0-1 at baseline and CTC = 0-1 after second chemotherapy cycle (18 patients); group 2, CTC ≥2 at baseline and CTC = 0-1 after second determination (5 patients). Median PFS was 7.7 and 9.9 months for group 1 and group 2, respectively (p = 0.4467). Conclusions: CTCs ≥2 at baseline were detected only in 24% of this group of patients with advanced NSCLC and poor performance status. No significant differences in PFS and OS between patients with or without CTCs at baseline were observed. © Federación de Sociedades Españolas de Oncología (FESEO) 2013. Source

Camats N.,University of Barcelona | Camats N.,University of Bern | Pandey A.V.,University of Bern | Fernandez-Cancio M.,University of Barcelona | And 15 more authors.
Journal of Clinical Endocrinology and Metabolism

Context: Steroidogenic factor-1 (SF-1/NR5A1) is a nuclear receptor that regulates adrenal and reproductive development and function. NR5A1 mutations have been detected in 46,XY individuals with disorders of sexual development (DSD) but apparently normal adrenal function and in 46,XX women with normal sexual development yet primary ovarian insufficiency (POI). Objective: A group of 100 46,XY DSD and two POI was studied for NR5A1 mutations and their impact. Design: Clinical, biochemical, histological, genetic, and functional characteristics of the patients with NR5A1 mutations are reported. Setting: Patients were referred from different centers in Spain, Switzerland, and Turkey. Histological and genetic studies were performed in Barcelona, Spain. In vitro studies were performed in Bern, Switzerland. Patients:Atotal of 65 Spanish and 35 Turkish patients with 46,XYDSDand two Swiss 46,XX patients with POI were investigated. Main Outcome: Ten novel heterozygote NR5A1 mutations were detected and characterized (five missense, one nonsense, three frameshift mutations, and one duplication). Results: The novel NR5A1 mutations were tested in vitro by promoter transactivation assays showing grossly reduced activity for mutations in theDNAbinding domain and variably reduced activity for other mutations. Dominant negative effect of the mutations was excluded. We found high variability and thus no apparent genotype-structure-function-phenotype correlation. Histological studies of testes revealed vacuolization of Leydig cells due to fat accumulation. Conclusions: SF-1/NR5A1 mutations are frequently found in 46,XY DSD individuals (9%) and manifest with a broad phenotype. Testes histology is characteristic for fat accumulation and degeneration over time, similar to findings observed in patients with lipoid congenital adrenal hyperplasia (due to StAR mutations). Genotype-structure-function-phenotype correlation remains elusive. Copyright © 2012 by The Endocrine Society. Source

Beltran E.,Research Center Principe Felipe | Beltran E.,Hospital Universitari litecnic la Fe | Hernandez A.,Research Center Principe Felipe | Lafuente E.M.,Research Center Principe Felipe | And 6 more authors.
Journal of Neuroimmunology

Axonal injury is the major cause of disability in patients with multiple sclerosis (MS), but the mechanisms leading to axonal damage are poorly understood. Oligoclonal IgM against lipids predicts an aggressive disease course in MS; however, the antigen that elicits the immune response has not yet been identified. We screened the CSF of 12 patients with MS, 7 patients with neuromyelitis optica (NMO), and 5 controls with non-inflammatory neurological disease (NIND) for the presence of IgM-type antibodies (IgM-Ab) against neuronal surface antigens, and analyzed the relationship between IgM-Ab level and the extent of brain atrophy. The CSF of MS patients displayed significantly higher levels of IgM-Ab compared to NIND or NMO patients. Furthermore, we document for the first time that these IgM-Ab recognize neuronal surface antigens, and that the levels of neuronal-bound IgM-Ab were independent of the IgM concentration and correlate with brain atrophy. Our findings suggest a role for the CSF IgM-Ab in the development of MS pathophysiology. © 2012 Elsevier B.V. Source

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