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1.
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14 p, 643.3 KB |
Key Genes of the Immune System and Predisposition to Acquired Hemophilia A : Evidence from a Spanish Cohort of 49 Patients Using Next-Generation Sequencing
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Pardos-Gea, Josep (Hospital Universitari Vall d'Hebron) ;
Martin-Fernandez, Laura (Hospital Universitari Vall d'Hebron. Institut de Recerca) ;
Closa, Laia (Hospital Universitari Vall d'Hebron. Institut de Recerca) ;
Ferrero, Ainara (Hospital Universitari Arnau de Vilanova) ;
Marzo, Cristina (Hospital Universitari Arnau de Vilanova) ;
Rubio Rivas, Manuel (Institut d'Investigació Biomèdica de Bellvitge) ;
Mitjavila, Francesca (Institut d'Investigació Biomèdica de Bellvitge) ;
González-Porras, José Ramón (Universidad de Salamanca) ;
Bastida, José María (Universidad de Salamanca) ;
Mateo, José (Institut d'Investigació Biomèdica Sant Pau) ;
Carrasco, Marina (Institut d'Investigació Biomèdica Sant Pau) ;
Bernardo, Ángel (Hospital Universitario Central de Asturias) ;
Astigarraga, Itziar (Hospital Universitario Cruces) ;
Aguinaco, Reyes (Hospital Universitari de Tarragona Joan XXIII) ;
Corrales Insa, Irene (Hospital Universitari Vall d'Hebron. Institut de Recerca) ;
García-Martinez, Iris (Hospital Universitari Vall d'Hebron. Institut de Recerca) ;
Vidal, Francisco (Hospital Universitari Vall d'Hebron. Institut de Recerca) ;
Universitat Autònoma de Barcelona
Acquired hemophilia A (AHA) is a rare bleeding disorder caused by the presence of autoantibodies against factor VIII (FVIII). As with other autoimmune diseases, its etiology is complex and its genetic basis is unknown. [...]
2023 -  10.3390/ijms242216372
International journal of molecular sciences, Vol. 24 (november 2023)
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26 p, 2.2 MB |
Inherited human ezrin deficiency impairs adaptive immunity
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García-Solís, Blanca (Hospital Universitario La Paz (Madrid)) ;
Van Den Rym, Ana (Hospital Universitario La Paz (Madrid)) ;
Martinez-Martinez, Laura (Institut d'Investigació Biomèdica Sant Pau) ;
Franco-Leyva, Teresa (Institut d'Investigació Biomèdica Sant Pau) ;
Pérez-Caraballo, Jareb J. (Vanderbilt University Medical Center) ;
Markle, Janet (Vanderbilt University Medical Center) ;
Cubillos-Zapata, Carolina (Centre for Biomedical Research Network) ;
Marín, Ana V. (Centro de investigación Hospital Universitario 12 de Octubre) ;
Recio, María J. (Centro de investigación Hospital Universitario 12 de Octubre) ;
Regueiro, José R. (Centro de investigación Hospital Universitario 12 de Octubre) ;
Navarro-Zapata, Alfonso (Hospital Universitario La Paz (Madrid)) ;
Mestre-Durín, Carmen (Hospital Universitario La Paz (Madrid)) ;
Ferreras, Cristina (Hospital Universitario La Paz (Madrid)) ;
Cotázar, Carla Martín (Hospital Universitario La Paz (Madrid)) ;
Mena, Roció (Hospital Universitario La Paz (Madrid)) ;
de la Calle-Fabregat, Carlos (Institut d'Investigació contra la Leucèmia Josep Carreras) ;
López-Lera, Alberto (Hospital Universitario La Paz (Madrid)) ;
Arquero, Miguel Fernández (Hospital Clínico San Carlos (Madrid)) ;
Pérez-Martínez, Antonio (Hospital Universitario La Paz (Madrid)) ;
López-Collazo, Eduardo (Hospital Universitario La Paz (Madrid)) ;
Sánchez-Ramón, Silvia (Hospital Clínico San Carlos (Madrid)) ;
Casanova, Jean-Laurent (Howard Hughes Medical Institute) ;
Martínez-Barricarte, Rubén (Vanderbilt University Medical Center) ;
de la Calle-Martín, Oscar (Institut d'Investigació Biomèdica Sant Pau) ;
de Diego, Rebeca Pérez (Hospital Universitario La Paz (Madrid)) ;
Universitat Autònoma de Barcelona
Inborn errors of immunity (IEI) are a group of monogenic diseases that confer susceptibility to infection, autoimmunity, and cancer. Despite the life-threatening consequences of some IEI, their genetic cause remains unknown in many patients. [...]
2023 - 10.1016/j.jaci.2023.05.022
The Journal of Allergy and Clinical Immunology, Vol. 152 (june 2023) , p. 997-1009.e11
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3.
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10 p, 1.3 MB |
Two-Time Multiplexed Targeted Next-Generation Sequencing Might Help the Implementation of Germline Screening Tools for Myelodysplastic Syndromes/Hematologic Neoplasms
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Calvete, Oriol (Institut Germans Trias i Pujol. Institut de Recerca contra la Leucèmia Josep Carreras) ;
Mestre, Julia (Institut Germans Trias i Pujol. Institut de Recerca contra la Leucèmia Josep Carreras) ;
Risueño, Ruth M. (University of Atlántico Medio, Las Palmas) ;
Manzanares Mileo, Ana (Institut Germans Trias i Pujol. Institut de Recerca contra la Leucèmia Josep Carreras) ;
Acha, Pamela (Institut Germans Trias i Pujol. Institut de Recerca contra la Leucèmia Josep Carreras) ;
Xicoy, Blanca (Institut Germans Trias i Pujol. Hospital Universitari Germans Trias i Pujol) ;
Sole, F (Institut Germans Trias i Pujol. Institut de Recerca contra la Leucèmia Josep Carreras)
Next-generation sequencing (NGS) tools have importantly helped the classification of myelodysplastic syndromes (MDS), guiding the management of patients. However, new concerns are under debate regarding their implementation in routine clinical practice for the identification of germline predisposition. [...]
2023 - 10.3390/biomedicines11123222
Biomedicines, Vol. 11 Núm. 12 (december 2023)
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4.
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11 p, 1.1 MB |
Sequential targeted exome sequencing of 1001 patients affected by unexplained limb-girdle weakness
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Töpf, Ana (Newcastle University and Newcastle Hospitals NHS Foundation Trust) ;
Johnson, Katherine (Newcastle University) ;
Bates, Adam (Newcastle University and Newcastle Hospitals NHS Foundation Trust) ;
Phillips, Lauren (Newcastle University and Newcastle Hospitals NHS Foundation Trust) ;
Chao, Katherine R. (Broad Institute of MIT and Harvard) ;
England, Eleina M. (Broad Institute of MIT and Harvard) ;
Laricchia, KristenM. (Broad Institute of MIT and Harvard) ;
Mullen, Thomas (Broad Institute of MIT and Harvard) ;
Valkanas, Elise (Broad Institute of MIT and Harvard) ;
Xu, Liwen (Broad Institute of MIT and Harvard) ;
Bertoli, Marta (Newcastle upon Tyne NHS Foundation Trust) ;
Blain, Alison (Newcastle University and Newcastle Hospitals NHS Foundation Trust) ;
Casasús, Ana B. (Newcastle University and Newcastle Hospitals NHS Foundation Trust) ;
Duff, Jennifer (Newcastle University and Newcastle Hospitals NHS Foundation Trust) ;
Mroczek, Magdalena (Newcastle University and Newcastle Hospitals NHS Foundation Trust) ;
Specht, Sabine (Newcastle University and Newcastle Hospitals NHS Foundation Trust) ;
Lek, Monkol (Yale University School of Medicine) ;
Ensini, Monica (Directorate E. Unit E2 Combatting Diseases) ;
MacArthur, Daniel G. (Murdoch Children's Research Institute) ;
Akay, Ela (Newcastle upon Tyne Hospitals NHS Foundation Trust) ;
Alonso-Pérez, Jorge (Institut d'Investigació Biomèdica Sant Pau) ;
Baets, Jonathan (University of Antwerp) ;
Barisic, Nina (Zagreb Medical School) ;
Bastian, Alexandra (University of Medicine and Pharmacy Carol Davila Bucharest) ;
Borell, Sabine (University of Freiburg) ;
Chamova, Teodora (Alexandrovska Medical University) ;
Claeys, Kristl (KU Leuven) ;
Colomer, Jaume (Hospital Sant Joan de Deu) ;
Coppens, Sandra (Université Libre de Bruxelles) ;
Deconinck, Nicolas (Hôpital Universitaire des Enfants Reine Fabiola (HUDERF)) ;
de Ridder, Willem (University of Antwerp) ;
Diaz-Manera, Jordi (Centro de Investigación Biomédica en Red de Enfermedades Raras) ;
Domínguez-González, C (Instituto de Investigación Hospital 12 de Octubre Centro de Actividades Ambulatorias) ;
Duncan, Alexis (Queen Elizabeth University Hospital) ;
Durmus, Hacer (Istanbul Faculty of Medicine) ;
Fahmy, Nagia A. (Ain Shams University (El Caire, Egipte)) ;
Farrugia, Maria Elena (Queen Elizabeth University Hospital) ;
Fernández-Torrón, Roberto (Instituto de Salud Carlos III) ;
Gonzalez-Quereda, L (Institut d'Investigació Biomèdica Sant Pau) ;
Haberlova, Jana (Charles University) ;
von der Hagen, Maja (Technische Universitat Dresden) ;
Hahn, Andreas (Justus-Liebig-University Giessen) ;
Jakovčević, Antonia (School of Medicine Zagreb) ;
Jerico Pascual, Ivonne (Complejo Hospitalario de Navarra) ;
Kapetanovic, Solange (Hospital de Basurto (Bilbao, Biscaia)) ;
Kenina, Viktorija (Riga East University Hospital) ;
Kirschner, Janbernd (University of Freiburg) ;
Klein, Andrea (Inselspital Bern) ;
Kölbel, Heike (University of Duisburg) ;
Kostera-Pruszczyk, Anna (Medical University of Warsaw) ;
Kulshrestha, Richa (RJAH Orthopaedic Hospital NHS Foundation Trust) ;
Lähdetie, Jaana (University of Turku and Turku University Central Hospital) ;
Layegh, Mahsa (Tehran University of Medical Sciences) ;
Longman, Cheryl (Queen Elizabeth University Hospital) ;
López de Munain, Adolfo (University of the Basque Country UPV-EHU) ;
Loscher, Wolfgang (Medical University of Innsbruck) ;
Lusakowska, Anna (Medical University of Warsaw) ;
Maddison, Paul (Nottingham University Hospitals NHS Trust (Regne Unit)) ;
Magot, Armelle (Hôtel-Dieu. University Hospital) ;
Majumdar, Anirban (Bristol Children's Hospital) ;
Martí, Pilar (Instituto de Investigación Sanitaria La Fe) ;
Martínez Arroyo, Amaia (Hospital Galdakao) ;
Mazanec, Radim (Charles University) ;
Mercier, Sandra (Hôtel-Dieu. University Hospital) ;
Mongini, Tiziana (University of Turin) ;
Muelas, Nuria (Instituto de Investigación Sanitaria La Fe) ;
Nascimento, Andrés (Hospital Sant Joan de Deu) ;
Nafissi, Shahriar (Tehran University of Medical Sciences) ;
Omidi, Shirin (Tehran University of Medical Sciences) ;
Ortez González, Carlos Ignacio (Hospital Sant Joan de Déu (Barcelona, Catalunya)) ;
Paquay, Stéphanie (Université de Louvain) ;
Pereon, Yann (Hôtel-Dieu. University Hospital) ;
Perić, Stojan (Clinical Center of Serbia) ;
Ponzalino, Valentina (University of Turin) ;
Rakočević Stojanović, Vidosava (Clinical Center of Serbia) ;
Remiche, Gauthier (Université Libre de Bruxelles) ;
Rodríguez Sainz, Aida (Hospital Galdakao) ;
Rudnik, Sabine (Medical University Innsbruck) ;
Sanchez Albisua, Iciar (University of Tübingen) ;
Santos, Manuela (Centro Hospitalar Universitário Porto) ;
Schara, Ulrike (University of Duisburg) ;
Shatillo, Andriy (Psychiatry and Narcology of NAMS of Ukraine) ;
Sertić, Jadranka (Zagreb Medical School) ;
Stephani, Ulrich (University Medical Center Schleswig-Holstein) ;
Strang-Karlsson, Sonja (Helsinki University Hospital) ;
Sznajer, Yves (Université de Louvain) ;
Tanev, Ani (Alexandrovska Medical University) ;
Tournev, Ivailo (New Bulgarian University) ;
Van den Bergh, Peter (Université de Louvain) ;
Van Parijs, Vinciane (Université de Louvain) ;
Vílchez, Juan (Instituto de Investigación Sanitaria La Fe) ;
Vill, Katharina (Dr. v. Hauner Children's Hospital) ;
Vissing, John (University of Copenhagen) ;
Wallgren-Pettersson, Carina (University of Helsinki) ;
Wanschitz, Julia (Medical University of Innsbruck) ;
Willis, Tracey (RJAH Orthopaedic Hospital NHS Foundation Trust) ;
Witting, Nanna (University of Copenhagen) ;
Zulaica, Miren (Hospital de Donostia (Sant Sebastià, País Basc)) ;
Straub, Volker (Newcastle University and Newcastle Hospitals NHS Foundation Trust) ;
Universitat Autònoma de Barcelona
Several hundred genetic muscle diseases have been described, all of which are rare. Their clinical and genetic heterogeneity means that a genetic diagnosis is challenging. We established an international consortium, MYO-SEQ, to aid the work-ups of muscle disease patients and to better understand disease etiology. [...]
2020 - 10.1038/s41436-020-0840-3
Genetics in medicine, Vol. 22 Núm. 9 (january 2020) , p. 1478-1488
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13 p, 749.5 KB |
Targeted next-generation sequencing in a large cohort of genetically undiagnosed patients with neuromuscular disorders in Spain
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Gonzalez-Quereda, L (Institut d'Investigació Biomèdica Sant Pau) ;
Rodriguez, Maria Jose (Institut d'Investigació Biomèdica Sant Pau) ;
Diaz-Manera, Jordi (Institut d'Investigació Biomèdica Sant Pau) ;
Alonso-Pérez, Jorge (Institut d'Investigació Biomèdica Sant Pau) ;
Gallardo, Eduard (Institut d'Investigació Biomèdica Sant Pau) ;
Nascimento, Andres (Institut de Recerca Sant Joan de Déu) ;
Ortez, Carlos Ignacio (Institut de Recerca Sant Joan de Déu) ;
Natera-De Benito, Daniel (Institut de Recerca Sant Joan de Déu) ;
Olive, Montse (Hospital Universitari de Bellvitge) ;
Gonzalez-Mera, Laura (Hospital de Viladecans) ;
de Munain, Adolfo Lopez (UPV-EHU) ;
Zulaica, Miren (Instituto de Salud Carlos III) ;
Poza, Juan Jose (Hospital de Donostia (Sant Sebastià, País Basc)) ;
Jerico, Ivonne (Complejo Hospitalario de Navarra) ;
Torne, Laura (Instituto de Investigación Sanitaria de Navarra) ;
Riera, Pau (Institut d'Investigació Biomèdica Sant Pau) ;
Milisenda, José (Hospital Clínic i Provincial de Barcelona) ;
Sanchez, Aurora (Hospital Clínic i Provincial de Barcelona) ;
Garrabou, Gloria (Hospital Clínic i Provincial de Barcelona) ;
Llano, Isabel (Osakidetza Basque Health Service) ;
Madruga-Garrido, Marcos (Hospital Universitario Virgen del Rocío (Sevilla, Andalusia)) ;
Gallano, Pia (Institut d'Investigació Biomèdica Sant Pau) ;
Universitat Autònoma de Barcelona
The term neuromuscular disorder (NMD) includes many genetic and acquired diseases and differential diagnosis can be challenging. Next-generation sequencing (NGS) is especially useful in this setting given the large number of possible candidate genes, the clinical, pathological, and genetic heterogeneity, the absence of an established genotype-phenotype correlation, and the exceptionally large size of some causative genes such as TTN, NEB and RYR1. [...]
2020 - 10.3390/genes11050539
Genes, Vol. 11 Núm. 5 (may 2020) , p. 539
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25 p, 1.8 MB |
Comprehensive constitutional genetic and epigenetic characterization of lynch-like individuals
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Dámaso, Estela (Hospital Universitari de Bellvitge) ;
González-Acosta, Maribel (Hospital Universitari de Bellvitge) ;
Vargas-Parra, Gardenia (Hospital Universitari de Bellvitge) ;
Navarro, Matilde (Hospital Universitari de Bellvitge) ;
Balmaña Gelpí, Judith (Vall d'Hebron Institut d'Oncologia) ;
Ramon y Cajal, Teresa (Institut d'Investigació Biomèdica Sant Pau) ;
Tuset, N. (Hospital Arnau de Vilanova (València)) ;
Thompson, B.A. (University of Melbourne) ;
Marín, Fátima (Hospital Universitari de Bellvitge) ;
Fernández, Anna (Hospital Universitari de Bellvitge) ;
Gómez, Carolina (Hospital Universitari de Bellvitge) ;
Velasco, À. (Institut d'Investigació Biomèdica (Girona)) ;
Solanes, Ares (Hospital Universitari de Bellvitge) ;
Iglesias, Sílvia (Hospital Universitari de Bellvitge) ;
Urgel, G. (Hospital Arnau de Vilanova (València)) ;
López, Consol (Institut d'Investigació Biomèdica Sant Pau) ;
Valle, Jesus Del (Hospital Universitari de Bellvitge) ;
Campos, Olga (Hospital Universitari de Bellvitge) ;
Santacana, M. (Institut de Recerca Biomèdica de Lleida (IRB Lleida)) ;
Matías-Guiu, Xavier (Hospital Universitari de Bellvitge) ;
Lazaro Garcia, Conxi (Hospital Universitari de Bellvitge) ;
Valle, Laura (Hospital Universitari de Bellvitge) ;
Brunet, Joan (Hospital Universitari de Bellvitge) ;
Pineda, Marta (Hospital Universitari de Bellvitge) ;
Capellá, G. (Gabriel) (Hospital Universitari de Bellvitge) ;
Universitat Autònoma de Barcelona
The causal mechanism for cancer predisposition in Lynch-like syndrome (LLS) remains unknown. Our aim was to elucidate the constitutional basis of mismatch repair (MMR) deficiency in LLS patients throughout a comprehensive (epi)genetic analysis. [...]
2020 - 10.3390/cancers12071799
Cancers, Vol. 12 Núm. 7 (july 2020) , p. 1-32
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16 p, 1.9 MB |
Cross-sectional evaluation of circulating hepatitis B virus RNA and DNA : Different quasispecies?
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García-García, Selene (Hospital Universitari Vall d'Hebron. Institut de Recerca) ;
Cortese, Maria Francesca (Hospital Universitari Vall d'Hebron. Institut de Recerca) ;
Tabernero, David (Instituto de Salud Carlos II) ;
Gregori i Font, Josep (Instituto de Salud Carlos II) ;
Vila, Marta (Hospital Universitari Vall d'Hebron. Institut de Recerca) ;
Pacín Ruiz, Beatriz (Hospital Universitari Vall d'Hebron. Institut de Recerca) ;
Quer, Josep 1963- (Instituto de Salud Carlos II) ;
Casillas, Rosario (Hospital Universitari Vall d'Hebron. Institut de Recerca) ;
Castillo-Ribelles, Laura (Hospital Universitari Vall d'Hebron. Institut de Recerca) ;
Ferrer-Costa, Roser (Hospital Universitari Vall d'Hebron. Institut de Recerca) ;
Rando-Segura, Ariadna (Hospital Universitari Vall d'Hebron) ;
Trejo-Zahínos, Jesús (Hospital Universitari Vall d'Hebron) ;
Pumarola Suñé, Tomàs (Hospital Universitari Vall d'Hebron) ;
Casis-Saez, Ernesto (Hospital Universitari Vall d'Hebron. Institut de Recerca) ;
Esteban, Rafael (Instituto de Salud Carlos II) ;
Riveiro Barciela, Mar (Instituto de Salud Carlos II) ;
Buti, Maria (Instituto de Salud Carlos II) ;
Rodríguez Frías, Francisco (Hospital Universitari Vall d'Hebron. Institut de Recerca) ;
Universitat Autònoma de Barcelona
Different forms of pregenomic and other hepatitis B virus (HBV) RNA have been detected in patients' sera. These circulating HBV-RNAs may be useful for monitoring covalently closed circular DNA activity, and predicting hepatitis B e-antigen seroconversion or viral rebound after nucleos(t)ide analog cessation. [...]
2021 - 10.3748/wjg.v27.i41.7144
World Journal of Gastroenterology, Vol. 27 (november 2021) , p. 7144-7158
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12 p, 1.4 MB |
Composition and diversity analysis of the lung microbiome in patients with suspected ventilator-associated pneumonia
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Fenn, Dominic (University of Manchester) ;
Abdel-Aziz, Mahmoud I. (University of Manchester) ;
van Oort, Pouline M. P. (University of Manchester) ;
Brinkman, Paul (University of Manchester) ;
Ahmed, Waqar M. (Parc Taulí Hospital Universitari. Institut d'Investigació i Innovació Parc Taulí (I3PT)) ;
Felton, Timothy (Parc Taulí Hospital Universitari. Institut d'Investigació i Innovació Parc Taulí (I3PT)) ;
Artigas Raventós, Antoni (Parc Taulí Hospital Universitari. Institut d'Investigació i Innovació Parc Taulí (I3PT)) ;
Póvoa, Pedro (New University of Lisbon) ;
Martin-Loeches, Ignacio (St. James's Hospital ( Dublín, Irlanda)) ;
Schultz, Marcus J. (Amsterdam UMC Location University of Amsterdam) ;
Dark, Paul (Parc Taulí Hospital Universitari. Institut d'Investigació i Innovació Parc Taulí (I3PT)) ;
Fowler, Stephen J. (Parc Taulí Hospital Universitari. Institut d'Investigació i Innovació Parc Taulí (I3PT)) ;
Bos, Lieuwe D (Amsterdam UMC Location University of Amsterdam) ;
Universitat Autònoma de Barcelona
Ventilator-associated pneumonia (VAP) is associated with high morbidity and health care costs, yet diagnosis remains a challenge. Analysis of airway microbiota by amplicon sequencing provides a possible solution, as pneumonia is characterised by a disruption of the microbiome. [...]
2022 - 10.1186/s13054-022-04068-z
Critical Care, Vol. 26 (july 2022)
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15 p, 1.2 MB |
A systematic review of the validated monogenic causes of human male infertility : 2020 update and a discussion of emerging gene-disease relationships
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Houston, Brendan J. (School of BioSciences and Bio21 Institute. The University of Melbourne) ;
Riera-Escamilla, Antoni (Institut d'Investigació Biomèdica Sant Pau) ;
Wyrwoll, Margot J. (Institute of Reproductive Genetics. University of Münster) ;
Salas-Huetos, Albert (Department of Nutrition. Harvard T.H. Chan School of Public Health. Harvard University) ;
Xavier, Miguel J. (Faculty of Medical Sciences. Biosciences Institute. Newcastle University) ;
Nagirnaja, Liina (Genetics of Male Infertility Initiative (GEMINI)) ;
Friedrich, Corinna (Institute of Reproductive Genetics. University of Münster) ;
Conrad, Donald F. (International Male Infertility Genomics Consortium (IMIGC)) ;
Aston, Kenneth I. (International Male Infertility Genomics Consortium (IMIGC)) ;
Krausz, Csilla (University of Florence) ;
Tüttelmann, Frank (International Male Infertility Genomics Consortium (IMIGC)) ;
O'bryan, Moira K. (International Male Infertility Genomics Consortium (IMIGC)) ;
Veltman, Joris A. (International Male Infertility Genomics Consortium (IMIGC)) ;
Oud, Manon S. (Department of Human Genetics. Donders Institute for Brain. Cognition and Behaviour. Radboudumc) ;
Universitat Autònoma de Barcelona
Background: Human male infertility has a notable genetic component, including well-established diagnoses such as Klinefelter syndrome, Y-chromosome microdeletions and monogenic causes. Approximately 4% of all infertile men are now diagnosed with a genetic cause, but a majority (60-70%) remain without a clear diagnosis and are classified as unexplained. [...]
2022 - 10.1093/humupd/dmab030
Human Reproduction Update, Vol. 28 Núm. 1 (january 2022) , p. 15-29
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