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Listar02.01.01. Investigación y comunicación científica por tema "Young Adult"

Listar02.01.01. Investigación y comunicación científica por tema "Young Adult"

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  • Clinical features and health-related quality of life in adult patients with mucopolysaccharidosis IVA: the Spanish experience 
    Quijada-Fraile, Pilar; Arranz-Canales, Elena; Martín-Hernández, Elena; Ballesta-Martínez, María-Juliana; Guillén-Navarro, Encarna; Pintos-Morell, Guillem; Molto-Abad, Marc; Moreno-Martínez, David; García-Morillo, Salvador; Blasco-Alonso, Javier; Luz-Couce, María; Gil-Sánchez, Ricardo; Cortes-Saladelafont, Elisenda; López-Rodríguez, Mónica-A; García-Silva, María-Teresa; Morales-Conejo, Montserrat (BMC, 2021-11)
    BACKGROUND: Mucopolysaccharidosis (MPS) IVA or Morquio A syndrome is a progressive and disabling disease characterized by a deficiency of the enzyme N-acetylgalactosamine-6-sulphate sulphatase. Its clinical presentation ...
  • Clinical pilot study to evaluate the neovaginal PACIENA prosthesis® for vaginoplasty without skin grafts in women with vaginal agenesis 
    Acien, Pedro; Nohales-Alfonso, Francisco-J; Sánchez-Ferrer, María-Luisa; Sánchez-Lozano, Miguel; Navarro-Lillo, Victoria; Acien, Maribel (BMC, 2019-11-26)
    BACKGROUND: To evaluate the feasibility and clinical outcomes of vaginoplasties using a neovaginal polylactic acid prosthesis made with 3-dimensional (3D) printing technology as an intraneovaginal mould. METHODS: This was ...
  • Comparison of Foveal, Macular, and Peripapillary Intraretinal Thicknesses Between Autism Spectrum Disorder and Neurotypical Subjects 
    García-Medina, José-Javier; García-Pinero, María; del-Río-Vellosillo, Mónica; Fares-Valdivia, Jesaran; Belen-Ragel-Hernández, Ana; Martínez-Saura, Salvador; Dolores-Carcel-López, María; Zanon-Moreno, Vicente; Dolores-Pinazo-Duran, María; Villegas-Pérez, María-Paz (ASSOC RESEARCH VISION OPHTHALMOLOGY INC, 2017-11)
    PURPOSE: To compare thicknesses of intraretinal layers segmented by spectral-domain optical coherence tomography (SD-OCT) between autism spectrum disorder (ASD) and neurotypical (NT) individuals. METHODS: We performed 2 ...
  • Comprehensive long-term efficacy and safety of recombinant human alpha-mannosidase (velmanase alfa) treatment in patients with alpha-mannosidosisKeywords 
    Lund, Allan-M; Borgwardt, Line; Cattaneo, Federica; Ardigo, Diego; Geraci, Silvia; Gil-Campos, Mercedes; de-Meirleir, Linda; Laroche, Cecile; Dolhem, Philippe; Cole, Duncan; Tylki-Szymanska, Anna; López-Rodríguez, Mónica; Guillén-Navarro, Encarna; Dali, Christine-I; Heron, Benedicte; Fogh, Jens; Muschol, Nicole; Phillips, Dawn; Van-den-Hout, J-M-Hannerieke; Jones, Simon-A; Amraoui, Yasmina; Harmatz, Paul; Guffon, Nathalie (SPRINGER, 2018-12)
    INTRODUCTION: Long-term outcome data provide important insights into the clinical utility of enzyme replacement therapies. Such data are presented for velmanase alfa in the treatment of alpha-mannosidosis (AM). METHODS: ...
  • Computer versus cardiologist: Is a machine learning algorithm able to outperform an expert in diagnosing a phospholamban p.Arg14del mutation on the electrocardiogram? 
    Bleijendaal, Hidde; Ramos, Lucas-A; Lopes, Ricardo-R; Verstraelen, Tom-E; Baalman, Sarah-WE; Pool, Marinka-DOudkerk; Tjong, Fleur-VY; Melgarejo-Meseguer, Francisco-M; Gimeno-Blanes, Francisco-Javier; Gimeno-Blanes, Juan-Ramón; Amin, Ahmad-S; Winter, Michiel-M; Marquering, Henk-A; Kok, Wouter-EM; Zwinderman, Aeilko-H; Wilde, Arthur-AM; Pinto, Yigal-M (ELSEVIER SCIENCE INC, 2021-01)
    BACKGROUND: Phospholamban (PLN) p.Arg14del mutation carriers are known to develop dilated and/or arrhythmogenic cardiomyopathy, and typical electrocardiographic (ECG) features have been identified for diagnosis. Machine ...
  • Controlled donation after circulatory death up to 80 years for liver transplantation: Pushing the limit again 
    Cascales-Campos, Pedro-Antonio; Ferreras, David; Alconchel-Gago, Felipe; Febrero, Beatriz; Royo-Villanova, Mario; Martínez, María; Rodríguez-González, José-Manuel; Fernández-Hernández, Juan-A; Ríos-Zambudio, Antonio; Pons-Miñano, José-Antonio; Sánchez-Bueno, Francisco; Robles-Campos, Ricardo; Martínez-Barba, Enrique; Martínez-Alarcón, Laura; Parrilla-Paricio, Pascual; Ramírez, Pablo (WILEY, 2020-01)
    Our main objective was to compare liver transplant (LT) results between donation after circulatory death (DCD) and donation after brainstem death (DBD) in our hospital and to analyze, within the DCD group, the influence ...
  • Craniofacial and three-dimensional palatal analysis in cleft lip and palate patients treated in Spain 
    Viñas, María-José; Galiotto-Barba, Francesca; Gabriela-Cortez-Lede, María; Rodríguez-González, María-Ángeles; Moral, Ignacio; Delso, Elena; González-Meli, Beatriz; Lobo, Fernando; López-Cedrun, José-Luis; Neagu, David; Garatea, Joaquín; Garatea, Amaia; Berenguer, Beatriz; Lorca-García, Concepción; Delgado, María-Dolores; Marti, Eunate; Gutiérrez, José-Manuel; Hernández, Carlos; Murillo-González, Jorge; Martínez-Álvarez, Concepción; Martínez-Sanz, Elena (NATURE PORTFOLIO, 2022-11)
    Growth alterations have been described in patients operated on for oral clefts. The purpose of this work was to analyze the craniofacial and palate morphology and dimensions of young adults operated on for oral clefts in ...
  • Cystathionine ß-synthase deficiency in the E-HOD registry-part I: pyridoxine responsiveness as a determinant of biochemical and clinical phenotype at diagnosis 
    Ko?ich, Viktor; Sokolová, Jitka; Morris, Andrew-A; Pavlíková, Markéta; Gleich, Florian; Kölker, Stefan; Krijt, Jakub; Dionisi-Vici, Carlo; Baumgartner, Matthias-R; Blom, Henk-J; Huemer, Martina; Aldámiz-Echevarría, Luis; Rezende-Arantes, Rodrigo-Rezende; Arrieta, Francisco; Blasco-Alonso, Javier; Brouwers, Martijn; Brunner-Krainz, Michaela; Bueno, María; Burgos-Peláez, Rosa; Cano, Aline; Couce, María-Luz; Crushell, Ellen; Ficicioglu, Can; Forny, Patrick; García-Jiménez, María-Concepción; Gaspar, Ana; González-Lamuño-Leguina, Domingo; Chapman, Kimberly-A; Chien, Yin-Hsiu; Janssen, Mirian-CH; Je?ina, Pavel; Lachmann, Robin; Lavigne, Christian; Lund, Allan-M; Lüsebrink, Natalia; Maillot, Francois; Martins, Ana-María; Meavilla-Olivas, Silvia; Mention, Karine; Mochel, Fanny; Monavari, Ahmad; Moreira, Sonia; Araujo-Moreno, Carolina; Muacevic-Katanec, Diana; Mundy, Helen; Murphy, Elaine; Olivieri, Giorgia; Paquay, Stéphanie; Pedrón-Giner, Consuelo; Peña-Quintana, Luis; Porras-Hurtado, Gloria-Liliana; Quijada-Fraile, Pilar; Redonnet-Vernhet, Isabelle; Rennings, Alexander-JM; Ruiz-Pons, Mónica; Santra, Saikat; Servais, Aude; Schiaffino, María-Cristina; Schiff, Manuel; Schwahn, Bernd-C; Schwartz, Ida-VD; Sremba, Leighann-J; Stainforth, Collette; Stepien, Karolina-M; Sykut-Cegielska, Jolanta; Terry, Allyson; Tran, Christel; Vitoria-Miñana, Isidro; Vives-Piñera, Inmaculada; Williams, Monique; Zeman, Jirí; Zielonka, Matthias (John Wiley and Sons Inc, 2021)
    Cystathionine ?-synthase (CBS) deficiency has a wide clinical spectrum, ranging from neurodevelopmental problems, lens dislocation and marfanoid features in early childhood to adult onset disease with predominantly ...
  • Data preprocessing workflow for exhaled breath analysis by GC/MS using open sources 
    Solá-Martínez, Rosa-Alba; Pastor-Hernández, José-María; Lozano-Terol, Gema; Gallego-Jara, Julia; García-Marcos, Luis; Cánovas-Díaz, Manuel; de-Diego-Puente, Teresa (NATURE PORTFOLIO, 2020-12-15)
    The noninvasive diagnosis and monitoring of high prevalence diseases such as cardiovascular diseases, cancers and chronic respiratory diseases are currently priority objectives in the area of health. In this regard, the ...
  • Do Unresectable Giant Cell Tumors of Bone Treated With Denosumab Progress After Discontinuation of Treatment? 
    de-la-Calva-Ceinos, Carolina; DENO-Res-Grp, Manuel; Angulo, Manuel; González-Rojo, Paula; Peiró, Ana; Machado, Pau; Cebrian, Juan-Luis; García-Maroto, Roberto; Valcárcel, Antonio; Puertas, Pablo; Valero-Cifuentes, Gregorio; Pablos, Oscar; Maireles, Miriam; Fontalva, María-Luisa; Chaves, Iván; Orce, Aida; Coll-Mesa, Luis; Pérez, Israel; González, Fausto; del-Carmen-Sanz, María; Gracia, Isidro (WILEY, 2025-01)
    BACKGROUND: Denosumab represents a valuable treatment option for unresectable giant cell tumors of the bone (GCTBs). However, no standardized protocols exist determining the length of administration, with few studies having ...
  • EDA, EDAR, EDARADD and WNT10A allelic variants in patients with ectodermal derivative impairment in the Spanish population 
    Carmen-Martínez-Romero, María; Ballesta-Martínez, María-Juliana; López-González, Vanesa; Sánchez-Soler, María-José; Serrano-Anton, Ana-Teresa; Barreda-Sánchez, María; Rodríguez-Pena, Lidya; Martínez-Menchon, María-Teresa; Frias-Iniesta, José; Sánchez-Pedreño, Paloma; Carbonell-Meseguer, Pablo; Glover-López, Guillermo; Guillén-Navarro, Encarna; Barcia-Ramírez, Ana; Cruz-Rojo, Jaime; Gener-Querol, Blanca; Hernández-Martin, Ángela; Lapunzina-Badia, Pablo; Llanos-Rivas, Isabel; Lorda-Sánchez, Isabel; Martínez-Carrascal, Antonio; Mascaro-Galy, José-Manuel; Noguera-Morel, Lucero; Rodríguez-González, María-Ángeles; Sánchez-del-Pozo, Jaime; Seidel, Veronica; Torrelo, Antonio; Trujillo-Tiebas, María-José (BMC, 2019-12-03)
    BACKGROUND: Ectodermal dysplasias (ED) are a group of genetic conditions affecting the development and/or homeostasis of two or more ectodermal derivatives. An attenuated phenotype is considered a non-syndromic trait when ...
  • Efficacy of the Paediatrics Palliative Care Team of Murcia according to the experience of the parents 
    Plaza-Fornieles, Mercedes; García-Marcos-Barbero, Patricia; Galera-Miñarro, Ana-María; Barbieri, Giorgio; Bellavia, Noemi; Bermúdez-Cortes, Mar; Navarro-Mingorance, Álvaro (EDICIONES DOYMA S A, 2020-07)
    INTRODUCTION: The care at the end of children's lives must be sensitive to the needs of the child and their family. An understanding of the illness is required from the perspective of parents faced with the death of their ...
  • Epidemiological and Clinical Characteristics of the Enterovirus D68 Outbreak in Spain in 2024 
    Camacho, Juan; García-ibanez, Nerea; Fernández-García, María-Dolores; Biya, Yasmin; Ruiz-de-Pedro, Estrella; Gutiérrez, Almudena; Nieto, María-del-Carmen; Ruiz-García, María-Montserrat; Pastor-Fajardo, María-Teresa; Lagarejos, Eduardo; de-Leonardo-Simon, Carlos; Navascues, Ana; Moreno-Docón, Antonio; Gozalo-marguello, Mónica; Berengua, Carla; Antequera, Pedro; Huescar-pascual, María-Dolores; Calvo, Cristina; Cabrerizo, María (WILEY, 2026-04)
    Enterovirus D68 (EV-D68) is a significant cause of respiratory and neurological disease worldwide. In 2024, Spain experienced its largest recorded EV-D68 outbreak, accounting for 37.4% of all typed EV (294/892). This study ...
  • Evaluation of 12 GWAS-drawn SNPs as biomarkers of rheumatoid arthritis response to TNF inhibitors. A potential SNP association with response to etanercept 
    Ferreiro-Iglesias, Aida; Montes, Ariana; Pérez-Pampin, Eva; Canete, Juan-D; Raya, Enrique; Magro-Checa, César; Vasilopoulos, Yiannis; Caliz, Rafael; Ferrer, Miguel-Ángel; Joven, Beatriz; Carreira, Patricia; Balsa, Alejandro; Pascual-Salcedo, Dora; Blanco, Francisco-J; Moreno-Ramos, Manuel-J; Manrique-Arija, Sara; Ordonez, María-del-Carmen; Alegre-Sancho, Juan-José; Narvaez, Javier; Navarro-Sarabia, Federico; Moreira, Virginia; Valor, Lara; García-Portales, Rosa; Márquez, Ana; Gómez-Reino, Juan-J; Martin, Javier; González, Antonio (PUBLIC LIBRARY SCIENCE, 2019-02-28)
    Research in rheumatoid arthritis (RA) is increasingly focused on the discovery of biomarkers that could enable personalized treatments. The genetic biomarkers associated with the response to TNF inhibitors (TNFi) are among ...
  • Evaluation of dietary treatment and amino acid supplementation in organic acidurias and urea-cycle disorders: On the basis of information from a European multicenter registry 
    Molema, Femke; Gleich, Florian; Burgard, Peter; van-der-Ploeg, Ans-T; Summar, Marshall-L; Chapman, Kimberly-A; Baric, Ivo; Lund, Allan-M; Koelker, Stefan; Williams, Monique; Hoerster, F; Jelsig, A-M; de-Lonlay, P; Wijburg, F-A; Bosch, A; Freisinger, P; Posset, R; Augoustides-Savvopoulou, P; Avram, P; Deleanu, C; Baumgartner, M-R; Haberle, J; Blasco-Alonso, J; Burlina, A-B; Rubert, L; García-Cazorla, A; Cortes-i-Saladelafont, E; Dionisi-Vici, C; Martinelli, D; Dobbelaere, D; Mention, K; Grunewald, S; Chakrapani, A; Hwu, W--L; Chien, Y--H; Lee, N--C; Karall, D; Scholl-Buergi, S; Lachmann, R; De-Laet, C; Matsumoto, S; de-Meirleir, L; Muehlhausen, C; Schiff, M; Peña-Quintana, L; Djordjevic, M; Sarajlija, A; Sykut-Cegielska, J; Wisniewska, A; Leao-Teles, E; Alves, S; Vara, R; Vives-Piñera, Inmaculada; Ortega, D-G; Morris, A; Zeman, J; Honzik, T; Chabrol, B; Arnaudo, F; Cano, A; Thompson, N; Eyskens, F; Lindner, M; Luesebrink, N; Jalan, A; Sokal, E; Legros, V; Nassogne, M-C (WILEY, 2019-11)
    Organic acidurias (OAD) and urea-cycle disorders (UCD) are rare inherited disorders affecting amino acid and protein metabolism. As dietary practice varies widely, we assessed their long-term prescribed dietary treatment ...
  • Evaluation of maternal and neonatal complications in preeclamptic twin versus singleton pregnancies: a retrospective study 
    Sánchez-Romero, Javier; Rodríguez-Contreras, María; Rolle, Valeria; Liandro, Romina-Sol; Pertegal-Ruiz, Miriam; Muñoz-Contreras, María; Blanco-Carnero, José-Eliseo; de-Paco-Matallana, Catalina (SPRINGER, 2025-06-06)
    PURPOSE: This study aims to compare maternal and neonatal outcomes in singleton and twin pregnancies complicated by preeclampsia, emphasizing differences between preterm and term deliveries. METHODS: This is a retrospective ...
  • Evaluation of standardized triple intrathecal therapy toxicity in oncohematological adult patients 
    Olmos-Jiménez, Raquel; Díaz-Carrasco, María-Sacramento; Cabañas-Perianes, Valentín; Valderrey-Pulido, Manuel; Espuny-Miró, Alberto (ELSEVIER, 2017-09-01)
    OBJECTIVE: To assess the toxicity of a standardized triple intrathecal chemotherapy in onco- hematological adult patients and to establish risk factors of toxicity. METHOD: Observational and prospective study of standardized ...
  • Evolution of mobility, pain/discomfort, self-care, and mental health in patients with alpha-mannosidosis: an international caregiver and patient survey 
    Stepien, Karolina-M; Thomas, Sophie; Hennermann, Julia-B; Lampe, Christina; Muschol, Nicole-M; Ballesta-Martínez, María-Juliana; Cruz, Jordi; López-Rodríguez, Mónica; Barth, Anneliese; Magner, Martin; Lund, Allan-M; Plaiasu, Vasilica; Ballabeni, Andrea; Dona, Francesca; Morgan, Heather-M; Guffon, Nathalie (BMC, 2025-05-07)
    BACKGROUND: Alpha-mannosidosis is a rare recessive lysosomal storage disorder with progressive multi-systemic impacts. In the absence of standardized monitoring protocols, there is insufficient understanding of disease ...
  • External and Total Hip Rotation Ranges of Motion Predispose to Low Back Pain in Elite Spanish Inline Hockey Players 
    Cejudo, Antonio; Moreno-Alcaraz, Víctor-Jesús; Izzo, Ricardo; Santonja-Medina, Fernando; Sainz-de-Baranda, Pilar (MDPI, 2020-07)
    Low back pain (LBP) is a common ailment in competitive athletes. Although the association between limited range of motion (ROM) and prevalence of LBP has been widely investigated in other sports, there is no research about ...
  • Factors associated with the presence of abnormal levels of fecal calprotectin in patients with negative panenteric studies 
    Egea-Valenzuela, Juan; Iglesias-Jorquera, Elena; Álvarez-Higueras, Francisco-Javier; Muñoz-Tornero, María; Pereniguez-López, Ana; Estrella-Díez, Esther; Alberca-de-las-Parras, Fernando (Arán Ediciones, 2020)
    BACKGROUND: fecal calprotectin is a selection tool prior to endoscopic studies in patients with gastrointestinal symptoms. However, some symptomatic patients with altered fecal calprotectin will not have any endoscopic ...

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