Fernandez-Rebollo E.,Hospital Of Cruces |
Fernandez-Rebollo E.,Harvard University |
Lecumberri B.,Hospital La Paz |
Lecumberri B.,Hospital Universitario La Paz |
And 72 more authors.
European Journal of Endocrinology | Year: 2010
Purpose: Type I pseudohypoparathyroidism (PHP-I) can be subclassified into Ia and Ib, depending on the presence or absence of Albright's hereditary osteodystrophy's phenotype, diminished α-subunit of the stimulatory G protein (Gsα) activity and multihormonal resistance. Whereas PHP-Ia is mainly associated with heterozygous inactivating mutations in G sα-coding exons of GNAS, PHP-Ib is caused by imprinting defects of GNAS. To date, just one patient with PHP and complete paternal uniparental disomy (UPD) has been described. We sought to identify the underlining molecular defect in twenty patients with parathyroid hormone resistance, hypocalcemia and hyperphosphatemia, and abnormal methylation pattern at GNAS locus. Methods: Microsatellite typing and comparative genome hybridization were performed for proband and parents. Results: We describe four patients with partial paternal UPD of chromosome 20 involving pat20qUPD in one case, from 20q13.13-qter in two cases, and pat20p heterodisomy plus interstitial 20q isodisomy in one patient. Conclusions: These observations demonstrate that mitotic recombination of chromosome 20 can also give rise to UPD and PHP, a situation similar to other imprinting disorders, such as Beckwith-Wiedemann syndrome or neonatal diabetes. © 2010 European Society of Endocrinology.
Perez-Nanclares G.,Hospital Of Cruces |
Romanelli V.,Hospital Universitario La Paz |
Romanelli V.,Institute Salud Carlos III |
Mayo S.,Hospital Universitario La Paz |
And 75 more authors.
Journal of Clinical Endocrinology and Metabolism | Year: 2012
Context: Genomic imprinting is the modification of the genomeso that genes from only one (rather than two) of the parental alleles are expressed.The mechanism underlying imprinting is epigenetic, occurring via changes in DNA methylation and histone modifications rather than through alterations in the DNA sequence. To date, nine different imprinting disorders have been clinically and genetically identified and a considerable research effort has been focused on determining the cause of the corresponding methylation defects. Objective: Our objective was to identify multilocus imprinting defects and characterize any mutations in trans-acting genes in patients with pseudohypoparathyroidism (PHP) caused by epigenetic alterations at GNAS locus. Design: We have investigated multilocus imprinting defects in 22 PHP patients with aberrant methylation at the GNAS locus not due to previously described deletions or to paternal uniparental disomy (UPD) of chromosome 20. Results: We found that, in contrast to what has been described in growth disorders, multilocus hypomethylation is an uncommon event in PHP patients. We were also unable to identify any genetic alteration causative of the epigenetic defects in the currently known methylation regulatory genes. Conclusion: Our work suggests that a trans-acting gene regulating the establishment or maintenance of imprinting at GNAS locus, if it exists, should be specific to PHP cases caused by epigenetic defects at GNAS. Copyright © 2012 by The Endocrine Society.
Martinez-Lopez A.,Hospital Universitario Marques Of Valdecilla Ifimav |
Montes-Moreno S.,Hospital Universitario Marques Of Valdecilla Ifimav |
Mazorra F.,Hospital Universitario Marques Of Valdecilla Ifimav |
Ulibarrena C.,Complejo Hospitalario Of Orense |
And 7 more authors.
American Journal of Surgical Pathology | Year: 2013
Persistent polyclonal B-cell lymphocytosis is a rare, benign lymphoproliferative disorder characterized by a stable, polyclonal CD19-positive CD5-negative lymphocytosis, the presence of binucleated lymphocytes in peripheral blood, and a polyclonal increase in serum immunoglobulin-M that may occasionally be accompanied by splenomegaly. Histopathologic diagnosis of these splenectomy specimens is difficult because of the massive spleen infiltration and the rarity of the descriptions of this condition. We describe the histopathologic findings from 2 splenectomy specimens. These included a partially preserved architecture with infiltration of the red pulp by small lymphocytes and partial replacement of the white pulp. Suggestions for identifying the disorder are made. © 2013 Lippincott Williams and Wilkins.
Santana-Rodriguez N.,Hospital Universitario Dr Negrin |
Santana-Rodriguez N.,Hospital San Roque |
Clavo B.,Hospital Universitario Dr Negrin |
Fernandez-Perez L.,University of Las Palmas de Gran Canaria |
And 8 more authors.
Journal of Thoracic and Cardiovascular Surgery | Year: 2011
Objectives: Rib fractures are a frequent traumatic injury associated with a relatively high morbidity. Currently, the treatment of rib fractures is symptomatic. Since it has been reported that pulsed ultrasounds accelerates repair of limb fractures, we hypothesized that the application of pulsed ultrasounds will modify the course of healing in an animal model of rib fracture. Methods: We studied 136 male Sprague-Dawley rats. Animals were randomly assigned to different groups of doses (none, 50, 100, and 250 mW/cm2 of intensity for 3 minutes per day) and durations (2, 10, 20, and 28 days) of treatment with pulsed ultrasounds. In every subgroup, we analyzed radiologic and histologic changes in the bone callus. In addition, we examined changes in gene expression of relevant genes involved in wound repair in both control and treated animals. Results: Histologic and radiologic consolidation was significantly increased by pulsed ultrasound treatment when applied for more than 10 days. The application of 50 mW/cm2 was the most effective dose. Only the 100 and 250 mW/cm2 doses were able to significantly increase messenger RNA expression of insulin-like growth factor 1, suppressor of cytokine signaling-2 and -3, and vascular endothelial growth factor and decrease monocyte chemoattractant protein-1 and collagen type II-alpha 1. Conclusions: Our findings indicate that pulsed ultrasound accelerates the consolidation of rib fractures. This study is the first to show that pulsed ultrasound promotes the healing of rib fractures. From a translational point of view, this easy, cheap technique could serve as an effective new therapeutic modality in patients with rib fractures. Copyright © 2011 by The American Association for Thoracic Surgery.
Gomez-Ulla F.,University of Santiago de Compostela |
Abraldes M.J.,University of Santiago de Compostela |
Basauri E.,Hospital Son Lltzer |
Fernandez M.,University of Santiago de Compostela |
And 9 more authors.
Archivos de la Sociedad Espanola de Oftalmologia | Year: 2010
Purpose: A guidelines for the management of retinal vein occlusion is presented. This is necessary because at this moment several therapeutic alternatives have been developed although their role is not yet sufficiently defined. Methods: Review of the literature for evidence published up to date. Relevant literature was identified and the level of evidence graded. Evidence was then assessed for consistency, applicability and clinical impact. The information was contrasted with those guides published in other countries. Results: Taking into account the different options of treatment that are currently used, several modes of action are suggested. The role of the various complementary examinations are discussed and it is recommended that criteria for the treatment are based on clinical, angiographic, and tomographic findings. Conclusions: Although there is no overall consensus, these guidelines promote a good standard of clinical practise and provide an update of the management of retinal vein occlusion. © 2010 Published by Elsevier España, S.L.
Bisphosphonates in primary attention. Study epidemiologist of administration and repercussion of bisphosphonates in patientes who they go to consultations of odontology of the Canary Service of Health [Bisfosfonatos en atención primaria. Estudio epidemiológico de la administración y repercusión de bisfosfonatos en pacientes que acuden a consultas de odontología del Servicio Canario de Salud]
Bocanegra-Perez S.,University of Las Palmas de Gran Canaria |
Liminana-Canal J.M.,Complejo Hospitalario Materno Insular |
Vicente-Barrero M.,University of Las Palmas de Gran Canaria |
Sosa-Henriquez M.,University of Las Palmas de Gran Canaria |
And 4 more authors.
Avances en Odontoestomatologia | Year: 2010
Objetives: We have realized a study in three consutations of Odontology of Las Palmas of Gran Canaria, to know the percentage patients that goes to the same in tratment with bisphosphonates (BF), what characteristic has, what benefits they request and if these medicaments determine the dental treatments. Equally, we want to know the degree of information about the possible side effects of the administration of BF in relation to the oral health and if previous revisions were carried out to this treatment. Design of the study: Surveys were realised during 40 labour days (between the months June and July, 2007) to all the 50-year-old patients o more, that they came with appointment before the Consultations of Odontology of three Centers of Health, of the Canary Service of Health in Las Palmas of Gran Canaria. Results: Of 501patients, 25 (5%) was in treatment with BF. The risedronato and the alendronato were the most used BF. One found minor frequency of exodoncias with regard to waited in these patients and an increase of the medicinal prescriptions. Conclusions: No patient had come for dental review before initiating a treatment with BF. The patientes in treatment with BF oral route are not properly informed about the possibility of osteonecrosis maxillary after any dental manipulation.