Recent submissions 

Ciències de la Salut: Recent submissions

Now showing items 381-400 of 979

    • The phenotypic spectrum of germline YARS2 variants: from isolated sideroblastic anemia to mitochondrial myopathy, lactic acidosis and sideroblastic anemia 2 

      Riley, Lisa G.; Heeney, Matthew M.; Rudinger-Thirion, Joëlle; Frugier, Magali; Campagna, Dean R.; Zhou, Ronghao; Hale, Gregory A.; Hilliard, Lee M.; Kaplan, Joel A.; Kwiatkowski, Janet L.; Sieff, Colin A.; Steensma, David P.; Rennings, Alexander J.; Simons, Annet; Schaap, Nicolaas; Roodenburg, Richard J.; Kleefstra, Tjitske; Arenillas, Leonor; Fita-Torró, Josep; Ahmed, Rasha; Abboud, Miguel; Bechara, Elie; Farah, Roula; Tamminga, Rienk Y. J.; Bottomley, Sylvia S.; Sanchez, Mayka; Huls, Gerwin; Swinkels, Dorine W.; Christodoulou, John; Fleming, Mark D. (Haematologica, 2018)
      variants have previously been described in patients with myopathy, lactic acidosis and sideroblastic anemia 2 (MLASA2). encodes the mitochondrial tyrosyl-tRNA synthetase, which is responsible for ...

    • Decapping protein EDC4 regulates DNA repair and phenocopies BRCA1 

      Hernández, Gonzalo; Ramírez, María José; Minguillón, Jordi; Quiles, Paco; Ruiz de Garibay, Gorka; Aza-Carmona, Miriam; Bogliolo, Massimo; Pujol, Roser; Prados-Carvajal, Rosario; Fernández, Juana; García, Nadia; López, Adrià; Gutiérrez-Enríquez, Sara; Diez, Orland; Benítez, Javier; Salinas, Mónica; Teulé, Alex; Brunet, Joan; Radice, Paolo; Peterlongo, Paolo; Schindler, Detlev; Huertas, Pablo; Puente, Xose S.; Lázaro, Conxi; Pujana, Miquel Àngel; Surrallés, Jordi (Nature Communications, 2018)
      BRCA1 is a tumor suppressor that regulates DNA repair by homologous recombination. Germline mutations in BRCA1 are associated with increased risk of breast and ovarian cancer and BRCA1 deficient tumors ...

    • Informal caregiving: perceived needs 

      Zabalegui, Adelaida; Bover, Andeu; Rodriquez, Encarna; Cabrera, Esther; Diaz, Magdalena; Gallart, Albert; González, Araceli; Gual, Pilar; Izquierdo, María D.; López, Luis; Pulpón, Ana M.; Ramírez, Ana (Nursing Science Quarterly, 2008)
      With the increasing population of persons over the age of 65 who need daily assistance in Spain, there is considerable need to better understand informal caregivers' views, particularly about the resources ...

    • Factors influencing burden among non-professional immigrant caregivers: a case-control study 

      Gallart Fernández-Puebla, Alberto; Cruz, Félix; Zabalegui, Adelaida (Journal of Advanced Nursing, 2012)
      Aim: To identify factors related to the burden that is experienced by untrained immigrant caregivers. Background: There is growing concern about how to provide the care required by an ageing population. ...

    • Impact of a long-term tobacco-free policy at a comprehensive cancer center: a series of cross-sectional surveys 

      Martínez, Cristina; Fu, Marcela; Martínez-Sánchez, Jose María; Antón, Laura; Fernández, Paz; Ballbè, Montse; Andrés, Ana; Riccobene, Anna; Sureda, Xisca; Gallart Fernández-Puebla, Alberto; Fernández, Esteve (BMC Public Health, 2014)
      Background: Spain has passed two smoke-free laws in the last years. In 2005, the law banned smoking in indoor places, and in 2010 the ban was extended to outdoor areas of certain premises such as ...

    • Impact of the Bachelor's thesis on the nursing profession 

      Gallart Fernández-Puebla, Alberto; Bardallo, Maria Dolores; De Juan, Maria Ángeles; Rodríguez, Encarnación; Fuster, Pilar; Monforte Royo, Cristina (Nurse Education Today, 2015)
      Background: The Bologna Declaration ushered in the reform of higher education in 30 countries of the European Union (EU) and led to the establishment of the European Higher Education Area (EHEA), ...

    • Iron regulatory protein-1 and -2: transcriptome-wide definition of binding mRNAs and shaping of the cellular proteome by iron regulatory proteins 

      Sanchez, Mayka; Galy, Bruno; Schwanhaeusser, Bjoern; Blake, Jonathon; Bähr-Ivacevic, Tomi; Benes, Vladimir; Selbach, Matthias; Muckenthaler, Martina U.; Hentze, Matthias W. (Blood, 2011)
      Iron regulatory proteins (IRPs) 1 and 2 are RNA-binding proteins that control cellular iron metabolism by binding to conserved RNA motifs called iron-responsive elements (IREs). The currently known ...

    • Iron refractory iron deficiency anemia 

      De Falco, Luigia; Sanchez, Mayka; Silvestri, Laura; Kannengiesser, Caroline; Muckenthaler, Martina U.; Iolascon, Achille; Gouya, Laurent; Camaschella, Clara; Beaumont, Carole (Haematologica, 2013)
      Iron refractory iron deficiency anemia is a hereditary recessive anemia due to a defect in the TMPRSS6In vitro gene encoding Matriptase-2. This protein is a transmembrane serine protease that plays an ...

    • Functional and clinical impact of novel Tmprss6 variants in iron-refractory iron-deficiency anemia patients and genotype–phenotype studies 

      De Falco, Luigia; Silvestri, Laura; Kannengiesser, Caroline; Morán, Erica; Oudin, Claire; Rausa, Marco; Bruno, Mariasole; Aranda, Jessica; Argiles, Bienvenida; Yenicesu, Idil; Falcon-Rodriguez, Maria; Yilmaz-Keskin, Ebru; Kocak, Ulker; Beaumont, Carole; Camaschella, Clara; Iolascon, Achille; Grandchamp, Bernard; Sanchez, Mayka (Human Mutation, 2014)
      Iron-refractory iron-deficiency anemia (IRIDA) is a rare autosomal-recessive disorder characterized by hypochromic microcytic anemia, low transferrin saturation, and inappropriate high levels of the ...

    • Population screening for hemochromatosis: a study in 5370 Spanish blood donors 

      Sánchez, Mayka; Villa, Margarita; Ingelmo, Mercedes; Sanz, Cristina; Bruguera, Miquel; Ascaso, Carlos; Oliva, Rafael (Journal of Hepatology, 2003)
      Background/Aims: Hereditary hemochromatosis is associated with homozygosity for C282Y mutation in the HFE gene, elevated serum transferrin saturation and excess iron deposits throughout the body. We ...

    • An Hfe-dependent pathway mediates hyposideremia in response to lipopolysaccharide-induced inflammation in mice 

      Roy, Cindy N.; Custodio, Angel O.; de Graaf, Jos; Schneider, Susanne; Akpan, Imo; Montross, Lynne K.; Sanchez, Mayka; Gaudino, Alessandro; Hentze, Matthias W.; Andrews, Nancy C.; Muckenthaler, Martina U. (Nature Genetics, 2004)
      Inflammation influences iron balance in the whole organism. A common clinical manifestation of these changes is anemia of chronic disease (ACD; also called anemia of inflammation). Inflammation reduces ...

    • Iron-regulatory proteins limit hypoxia-inducible factor 2α expression in iron deficiency 

      Sanchez, Mayka; Galy, Bruno; Muckenthaler, Martina U.; Hentze, Matthias W. (Nature Structural & Molecular Biology, 2007)
      Hypoxia stimulates erythropoiesis, the major iron-utilization pathway. We report the discovery of a conserved, functional iron-responsive element (IRE) in the 5′ untranslated region of the messenger RNA ...

    • Is congenital secondary erythrocytosis/polycythemia caused by activating mutations within the HIF-2α iron-responsive element? 

      Percy, Melanie J.; Sanchez, Mayka; Swierczek, Sabina; McMullin, Mary Frances; Mojica-Henshaw, Mariluz P.; Muckenthaler, Martina U.; Prchal, Josef T.; Hentze, Matthias W. (Blood, 2007)

    • Missense SLC25A38 variations play an important role in autosomal recessive inherited sideroblastic anemia 

      Kannengiesser, Caroline; Sanchez-Fernandez, Mayka; Sweeney, Marion; Hetet, Gilles; Kerr, Briedgeen; Moran, Erica; Fuster Soler, Jose L.; Maloum, Karim; Matthes, Thomas; OUDOT, Caroline; Lascaux, Axelle; Pondarré, Corinne; Sevilla Navarro, Julian; Vidyatilake, Sudharma; Beaumont, Carole; grandchamp, bernard; May, Alison (Haematologica, 2011)
      Congenital sideroblastic anemias are rare disorders with several genetic causes; they are characterized by erythroblast mitochondrial iron overload, differ greatly in severity and some occur within a ...

    • Long-term anatomical and functional outcomes after autokeratoplasty 

      Sanjuán, Pablo; Julio, Gemma; Bolaños, Jennifer; De Toledo, Juan Álvarez; García de Oteyza, Gonzalo; Temprano, José; Barraquer, Rafael Ignacio (British Journal of Ophthalmology, 2021)
      Background: To evaluate the anatomical and functional outcomes of autologous contralateral penetrating keratoplasty (autokeratoplasty). Methods: Kaplan-Meier survival analyses were retrospectively ...

    • Vitrectomy for endophthalmitis in eyes with osteokeratoprosthesis 

      Vilaplana, Ferran; Nadal, Jeroni; Temprano, José; Julio, Gemma; Olivera, Maximiliano; Casaroli Marano, Ricardo P.; Barraquer, Rafael Ignasi (Retina, 2020)
      Purpose: To analyze functional and anatomical results of pars plana vitrectomy (PPV) to treat endophthalmitis in eyes with osteokeratoprosthesis. Methods: An observational, retrospective study of five ...

    • Histological comparison of in vitro and in vivo development of peripheral posterior capsule opacification in human donor tissue 

      Ribeiro Koch, Camila; D'Antin, Justin Christopher; Tresserra, Francisco; Barraquer, Rafael Ignasi; Michael, Ralph (Experimental Eye Research, 2019)
      In order to study the mechanisms involved in the development of posterior capsule opacification (PCO) we compared in vivo developed PCO with PCO formed in tissue culture with focus on the periphery of ...

    • Osteo-odonto-, tibial bone and Boston keratoprosthesis in clinically comparable cases of chemical injury and autoimmune disease 

      Fideliz de la Paz, Maria; Salvador-Culla, Borja; Charoenrook, Victor; Temprano, José; Álvarez de Toledo, Juan; Grabner, Günther; Michael, Ralph; Barraquer, Rafael I. (The Ocular Surface, 2019)
      Purpose: To compare anatomical and functional results between three types of keratoprosthesis (KPro) in chemical injury and autoimmune disease. Methods: 70 clinically comparable cases were included as ...

    • Results of retinal detachment surgery in eyes with osteo-keratoprosthesis 

      Vilaplana, Ferran; Nadal, Jeroni; Temprano, José; Julio, Gemma; Barraquer, Rafael Ignacio (Retina, 2018)
      Purpose: To evaluate the anatomical and functional results of pars plana vitrectomy in eyes with osteo-keratoprosthesis, who have suffered retinal detachment. Methods: An observational, retrospective ...

    • Comparison of long-term results between osteo-odonto-keratoprosthesis and tibial bone keratoprosthesis 

      Charoenrook, Victor; Michael, Ralph; Fideliz de la Paz, Maria; Temprano, José; Barraquer, Rafael I. (The Ocular Surface, 2018)
      Purpose: To compare the anatomical and the functional results between osteo-odonto-keratoprosthesis (OOKP) and keratoprosthesis using tibial bone autograft (Tibial bone KPro). Methods: We reviewed the ...