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Envíos recientes

02.01.01. Investigación y comunicación científica: Envíos recientes

  • Inherited Epigenetic Hallmarks of Childhood Obesity Derived from Prenatal Exposure to Obesogens 
    Nuñez-Sánchez, María-A; Jiménez-Méndez, Almudena; Suárez-Cortes, María; Martínez-Sánchez, María-A; Sánchez-Solis, Manuel; Blanco-Carnero, José-E; Ruiz-Alcaraz, Antonio-J; Ramos-Molina, Bruno (Multidisciplinary Digital Publishing Institute (MDPI), 2023)
  • Bone Density around Titanium Dental Implants Coating Tested/Coated with Chitosan or Melatonin: An Evaluation via Microtomography in Jaws of Beagle Dogs 
    López-Valverde, Nansi; López-Valverde, Antonio; Manuel-Aragoneses, Juan; Martínez-Martínez, Francisco; González-Escudero, María-C; Manuel-Ramírez, Juan (MDPI, 2021-07)
  • Comparison of n-3 PUFA-Enriched vs. Olive-Oil-Based Lipid Emulsion on Oxidative Stress and Inflammatory Response in Critically Ill Post-Surgery Adults: Secondary Analysis of a Randomized Controlled Trial 
    Cuartero-Corbalán, Nerea; Martínez-Lozano-Aranaga, Fatima; Gómez-Ramos, María-Jesús; Gómez-Sánchez, María-B; Aviles-Plaza, Francisco-V; Nunez-Sánchez, María-A; Morillas-Ruiz, Juana-M (MDPI, 2024-11)
    Malnutrition in critically ill patients represents a major concern as it can lead to adverse outcomes including increased morbidity and mortality. These patients exhibit an impaired immune response accompanied by increased ...
  • Whole Blood Transcriptome Analysis in Congenital Anemia Patients 
    Sánchez-Villalobos, María; Banos, Eulalia-Campos; Martínez-Balsalobre, Elena; Navarro-Ramírez, Verónica; Videla, María-Asuncion-Beltran; Pinilla, Miriam; Guillén-Navarro, Encarna; Salido-Fierrez, Eduardo; Pérez-Oliva, Ana-Belén (MDPI, 2024-11)
    Congenital anemias include a broad range of disorders marked by inherent abnormalities in red blood cells. These abnormalities include enzymatic, membrane, and congenital defects in erythropoiesis, as well as hemoglobinopathies ...
  • Real Implication of Fertility-Sparing Surgery for Ovarian Cancer: Reproductive Outcomes 
    Heras, Marta; Alonso-Espias, María; Arencibia, Octavio; Minig, Lucas; Marti, Lola; Diestro, María-Dolores; Cespedes, Juan; Niguez, Isabel; Gil-Ibáñez, Blanca; Diaz-Feijoo, Berta; Llueca, Antoni; Rosado, Claudia; Iacoponi, Sara; de-la-Manzanara, Carlos-López; Morales, Sara; Fernández-Galguera, María-José; Cano, Ana; Gorostidi, Mikel; Zapardiel, Ignacio (MDPI, 2024-07)
    BACKGROUND: to prove the effectivity of fertility-sparing procedures in early-stage ovarian cancer by assessing pregnancy rates and obstetrical outcomes. METHODS: we performed a retrospective multicenter study among 55 ...
  • HELIX Syndrome, a Claudinopathy with Relevant Dermatological Manifestations: Report of Two New Cases 
    Martínez-Romero, María-Carmen; Hernández-Contreras, María-Encarnación; Bafalliu-Vidal, Juan-Antonio; Barreda-Sánchez, María; Martínez-Menchón, Teresa; Cabello-Chaves, Virginia; Guillén-Navarro, Encarna (MDPI, 2024-06)
    HELIX syndrome (Hypohidrosis-Electrolyte disturbances-hypoLacrimia-Ichthyosis-Xerostomia) (MIM#617671) (ORPHA:528105), described in 2017, is due to an abnormal claudin 10 b protein, secondary to pathogenic CLDN10 variants. ...
  • PRPH2-Related Retinal Dystrophies: Mutational Spectrum in 103 Families from a Spanish Cohort 
    Fernández-Caballero, Lidia; Martín-Merida, Inmaculada; Blanco-Kelly, Fiona; Avila-Fernández, Almudena; Carreno, Ester; Fernández-San-Jose, Patricia; Irigoyen, Cristina; Jiménez-Rolando, Belén; López-Grondona, Fermina; Mahillo, Ignacio; Martín-Gutiérrez, María-Pilar; Minguez, Pablo; Perea-Romero, Irene; Del-Pozo-Valero, Marta; Riveiro-Álvarez, Rosa; Rodilla, Cristina; Rodríguez-Pena, Lidya; Sánchez-Barbero, Ana-Isabel; Swafiri, Saoud-T; Trujillo-Tiebas, María-José; Zurita, Olga; García-Sandoval, Blanca; Corton, Marta; Ayuso, Carmen (MDPI, 2024-03)
    PRPH2, one of the most frequently inherited retinal dystrophy (IRD)-causing genes, implies a high phenotypic variability. This study aims to analyze the PRPH2 mutational spectrum in one of the largest cohorts worldwide, ...
  • Inflammation in Development and Aging: Insights from the Zebrafish Model 
    Mastrogiovanni, Marta; Martínez-Navarro, Francisco-Juan; Bowman, Teresa-V; Cayuela, María-L (MDPI, 2024-02)
    Zebrafish are an emergent animal model to study human diseases due to their significant genetic similarity to humans, swift development, and genetic manipulability. Their utility extends to the exploration of the involvement ...
  • Validation of Quantitative Flow Ratio-Derived Virtual Angioplasty with Post-Angioplasty Fractional Flow Reserve-The QIMERA-I Study 
    Amat-Santos, Ignacio-J; Marengo, Giorgio; Sánchez-Luna, Juan-Pablo; Villar, Carlos-Cortes; Crespo, Fernando-Rivero; Diaz, Víctor-Alfonso-Jiménez; Hernández, José-María-de-la-Torre; de-Prado, Armando-Pérez; Sabate, Manel; López-Palop, Ramón; Valle, José-Miguel-Vegas; de-Lezo, Javier-Suárez; Cordon, Clara-Fernández; González, José-Carlos; García-Gómez, Mario; Redondo, Alfredo; Moraleja, Manuel-Carrasco; San-Román, JAlberto (MDPI, 2024-01)
    Background: Quantitative flow ratio (QFR) virtual angioplasty with pre-PCI residual QFR showed better results compared with an angiographic approach to assess post-PCI functional results. However, correlation with pre-PCI ...
  • Challenges of the Implementation of a Delirium Rate Scale in a Pediatric Intensive Care Unit: A Qualitative Approach 
    Balsalobre-Martínez, Paula; Montosa-García, Raquel; Marín-Yago, Ana; Baeza-Mirete, Manuel; Muñoz-Rubio, Gloria-María; Rojo-Rojo, Andrés (MDPI, 2024-01)
    INTRODUCTION: Delirium in the pediatric population admitted to intensive care is a worrying reality due to its potential complications and the increase in associated costs. This study aims to explore the experiences of ...
  • Snijders Blok-Campeau Syndrome: Description of 20 Additional Individuals with Variants in CHD3 and Literature Review 
    Pascual, Patricia; Tenorio-Castaño, Jair; Mignot, Cyril; Afenjar, Alexandra; Arias, Pedro; Gallego-Zazo, Natalia; Parra, Alejandro; Miranda, Lucía; Cazalla, Mario; Silvan, Cristina; Heron, Delphine; Keren, Boris; Popa, Ioana; Palomares, María; Rikeros, Emi; Ramos, Feliciano-J; Almoguera, Berta; Ayuso, Carmen; Swafiri, Saoud-Tahsin; Barbero, Ana-Isabel-Sánchez; Srinivasan, Varunvenkat-M; Gowda, Vykuntaraju-K; Morleo, Manuela; Nigro, Vicenzo; D'Arrigo, Stefano; Ciaccio, Claudia; Mesa, Carmen-Martín; Paumard, Beatriz; Guillén, Gema; Anton, Ana-Teresa-Serrano; Jiménez, Marta-Domínguez; Seidel, Verónica; Suárez, Julia; Cormier-Daire, Valerie; Nevado, Julián; Lapunzina, Pablo (MDPI, 2023-09)
    Snijders Blok-Campeau syndrome (SNIBCPS, OMIM# 618205) is an extremely infrequent disease with only approximately 60 cases reported so far. SNIBCPS belongs to the group of neurodevelopmental disorders (NDDs). Clinical ...
  • Oleanolic Acid Complexation with Cyclodextrins Improves Its Cell Bio-Availability and Biological Activities for Cell Migration 
    Stelling-Ferez, Javier; López-Miranda, Santiago; Gabaldon, José-Antonio; Nicolás, Francisco-Jose (MDPI, 2023-10)
    Wound healing is a complex process to restore skin. Plant-derived bioactive compounds might be a source of substances for the treatment of wounds stalled in a non-resolving stage of wound healing. Oleanolic acid (OA), a ...
  • Genotypic Frequencies of Mutations Associated with Alpha-1 Antitrypsin Deficiency in Unrelated Bone Marrow Donors from the Murcia Region Donor Registry in the Southeast of Spain 
    Cuenca, Irene; Botella, Carmen; Moya-Quiles, María-Rosa; Jiménez-Coll, Víctor; Galian, José-Antonio; Martínez-Banaclocha, Helios; Muro-Pérez, Manuel; Minguela-Puras, Alfredo; Legaz, Isabel; Muro-Pérez, Manuel (MDPI, 2023-09)
    Alpha-1 antitrypsin (AAT1) deficiency (AAT1D) is an inherited disease with an increased risk of chronic obstructive pulmonary disease (COPD), liver disease, and skin and blood vessel problems. AAT1D is caused by mutations ...
  • The Novel Variant NP_00454563.2 (p.Glu259Glyfs*77) in Gene PKP2 Associated with Arrhythmogenic Cardiomyopathy in 8 Families from Malaga, Spain 
    Robles-Mezcua, Ainhoa; Ruiz-Salas, Amalio; Medina-Palomo, Carmen; Robles-Mezcua, María; Diaz-Expósito, Arancha; Ortega-Jiménez, María-Victoria; Gimeno-Blanes, Juan-Ramón; Jiménez-Navarro, Manuel-F; García-Pinilla, José-Manuel (MDPI, 2023-07)
    INTRODUCTION AND OBJECTIVES: Arrhythmogenic cardiomyopathy (ACM) is a hereditary heart disease defined by the progressive replacement of the ventricular myocardium with fibroadipose tissue, which can act as a substrate for ...
  • Lamin A/C Ablation Restricted to Vascular Smooth Muscle Cells, Cardiomyocytes, and Cardiac Fibroblasts Causes Cardiac and Vascular Dysfunction 
    Del-Monte-Monge, Alberto; de-Lara, Inigo-Ruiz-Polo; Gonzalo, Pilar; Espinos-Estevez, Carla; González-Amor, María; de-la-Fuente-Pérez, Miguel; Andrés-Manzano, María-J; Fanjul, Víctor; Gimeno, Juan-R; Barriales-Villa, Roberto; Dorado, Beatriz; Andrés, Vicente (MDPI, 2023-07)
    Mutations in the LMNA gene (encoding lamin A/C proteins) cause several human cardiac diseases, including dilated cardiomyopathies (LMNA-DCM). The main clinical risks in LMNA-DCM patients are sudden cardiac death and ...
  • Early Cytomegalovirus Reactivation in Renal Recipients Is Associated with High Levels of B Cell Maturation Antigen Transcript Expression Prior to Transplantation 
    Alfaro, Rafael; Rodríguez-Aguilar, Luis; Llorente Vinas, Santiago; Jiménez-Coll, Víctor; Martínez-Banaclocha, Helios; Galian, José-Antonio; Botella, Carmen; Moya-Quiles, María-Rosa; Muro-Pérez, Manuel; Minguela-Puras, Alfredo; Legaz, Isabel; Muro-Pérez, Manuel (MDPI, 2023-07)
    Cytomegalovirus (CMV) infection is the most frequent infection episode in kidney transplant (KT) recipients. Reactivation usually occurs in the first three months after transplantation and is associated with higher cellular ...
  • Clinical Heterogeneity and Different Phenotypes in Patients with SETD2 Variants: 18 New Patients and Review of the Literature 
    Parra, Alejandro; Rabin, Rachel; Pappas, John; Pascual, Patricia; Cazalla, Mario; Arias, Pedro; Gallego-Zazo, Natalia; Santana, Alfredo; Arroyo, Ignacio; Artigas, Merce; Pachajoa, Harry; Alanay, Yasemin; Akgun-Dogan, Ozlem; Ruaud, Lyse; Couque, Nathalie; Levy, Jonathan; Porras-Hurtado, Gloria-Liliana; Santos-Simarro, Fernando; Ballesta-Martínez, María-Juliana; Guillén-Navarro, Encarna; Muñoz-Hernández, Hugo; Nevado, Julián; Tenorio-Castaño, Jair; Lapunzina, Pablo (MDPI, 2023-06)
    SETD2 belongs to the family of histone methyltransferase proteins and has been associated with three nosologically distinct entities with different clinical and molecular features: Luscan-Lumish syndrome (LLS), intellectual ...
  • All That Glitters in cfDNA Analysis Is Not Gold or Its Utility Is Completely Established Due to Graft Damage: A Critical Review in the Field of Transplantation 
    Jiménez-Coll, Víctor; El-Band, Jaouad-El-Kaaoui; Llorente Vinas, Santiago; González-López, Rosana; Fernández-González, Marina; Martínez-Banaclocha, Helios; Galian, José-Antonio; Botella, Carmen; Moya-Quiles, María-Rosa; Minguela-Puras, Alfredo; Legaz, Isabel; Muro-Pérez, Manuel (MDPI, 2023-06)
    In kidney transplantation, a biopsy is currently the gold standard for monitoring the transplanted organ. However, this is far from an ideal screening method given its invasive nature and the discomfort it can cause the ...
  • The Expanding Phenotypical Spectrum of WARS2-Related Disorder: Four Novel Cases with a Common Recurrent Variant 
    Pauly, Martje-G; Korenke, GChristoph; Diaw, Sokhna-Haissatou; Groezinger, Anne; Cazurro-Gutiérrez, Ana; Pérez-Duenas, Belén; González, Victoria; Macaya, Alfons; Anton, Ana-Teresa-Serrano; Peterlin, Borut; Bozovic, Ivana-Babic; Maver, Ales; Muenchau, Alexander; Lohmann, Katja (MDPI, 2023-04)
    Biallelic variants in the mitochondrial form of the tryptophanyl-tRNA synthetases (WARS2) can cause a neurodevelopmental disorder with movement disorders including early-onset tremor-parkinsonism syndrome. Here, we describe ...
  • NAMPT and PARylation Are Involved in the Pathogenesis of Atopic Dermatitis 
    Arroyo, Ana-B; Bernal-Carrión, Martín; Canton-Sandoval, Joaquín; Cabas, Isabel; Corbalán-Velez, Raul; Martínez-Menchón, Teresa; Ferri, Belén; Cayuela, María-L; García-Moreno, Diana; Mulero, Victoriano (MDPI, 2023-04-28)
    Atopic dermatitis (AD) is a chronic inflammatory skin disease of very high prevalence, especially in childhood, with no specific treatment or cure. As its pathogenesis is complex, multifactorial and not fully understood, ...

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