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Focus group para la definición de e-senior chronics

Repositorio: RUNA. Repositorio da Consellería de Sanidade e Sergas
MARTINEZ PILLADO, MODESTO, Regueiro Martínez, Antonio, González Cristobo, Gloria

O uso de novos sistemas de comunicación dixital entre a poboación de idade avanzada pode facer cambiar o paradigma de atención ao paciente crónico. Neste traballo preténdese definir unha nova categoría de pacientes crónicos baseada nas súas competencias dixitais e a súa relación co sistema sanitario (e- senior chronics). Asímismo, búscase describir as características principais atribuíbles a esa cohorte de pacientes e ponderalas segundo a súa relevancia na definición., El uso de nuevos sistemas de comunicación digital entre la población de edad avanzada puede hacer cambiar el paradigma de atención al paciente crónico. En este trabajo se pretende definir una nueva categoría de pacientes crónicos basada en sus competencias digitales y su relación con el sistema sanitario (e-senior chronics). Asímismo, se busca describir las características principales atribuibles a esa cohorte de pacientes y ponderarlas según su relevancia en la definición., Comunicación presentada en: 21 Congreso Nacional de Hospitales y gestión Sanitaria. Innovación: camino de sostenibilidad. Santiago de Compostela el 8, 9 y 10 de mayo de 2019.



Xestión Integrada de Pontevedra: innovación para adaptar las ISO 9001 y 14001

Repositorio: RUNA. Repositorio da Consellería de Sanidade e Sergas
GARCIA-BORREGON, JORGE, MARTINEZ PILLADO, MODESTO

A estratexia da Xerencia de Xestión Integrada de Pontevedra e O Salnés para adaptarse ás últimas versións das Normas ISO 9001 e ISO 14001 destaca por un despregamento orixinal. Para levar a cabo este proceso de cambio realizáronse actividades de formación e sensibilización, e un despregamento de equipos de consultoría interna e mellora . Esta experiencia podería ser de utilidade para outras organizacións sanitarias., La estrategia de la Xerencia de Xestión Integrada de Pontevedra e O Salnés para adaptarse a las últimas versiones de las Normas ISO 9001 e ISO 14001 destaca por un despliegue original. Para llevar a cabo este proceso de cambio se realizaron actividades de formación y sensibilización, y un despliegue de equipos de consultoría interna y mejora . Esta experiencia podría ser de utilidad para otras organizaciones sanitarias.



Creación de un sistema de apoyo a la decisión clínica basado en la anamnesis digital

Repositorio: RUNA. Repositorio da Consellería de Sanidade e Sergas
Said Criado, Ismael, Fernández López, Helena, Morán Hermida, Luis Manuel, MARTINEZ PILLADO, MODESTO

Para incorporar a intelixencia artificial (IA) no acto médico, é preciso desenvolver ferramentas que axuden ao médico para obter datos codificados e ben estruturados que nutran os algoritmos dixitais. O obxectivo deste traballo é desenvolver unha ferramenta dixital que axude ao médico para introducir os síntomas e signos clínicos exploratorios de forma estruturada durante a entrevista clínica., Para incorporar la inteligencia artificial (IA) en el acto médico, es preciso desarrollar herramientas que ayuden al médico a obtener datos codificados y bien estructurados que nutran los algoritmos digitales. El objetivo de este trabajo es desarrollar una herramienta digital que ayude al médico a introducir los síntomas y signos clínicos exploratorios de forma estructurada durante la entrevista clínica., Comunicación presentada en: 21 Congreso Nacional de Hospitales y gestión Sanitaria. Innovación: camino de sostenibilidad. Santiago de Compostela el 8, 9 y 10 de mayo de 2019.



Resultados de vías rápidas de diagnóstico de cáncer colorrectal en España

Repositorio: RUNA. Repositorio da Consellería de Sanidade e Sergas
Ledo Rodríguez, Alejandro, Pérez Cachafeiro, Santiago, Ulla Rocha, Jóse Luis, Said Criado, Ismael, Ocampo Fontagordo, Marta, Turnes Vázquez, Juan, MARTINEZ PILLADO, MODESTO

Las vías clínicas se aplican con objeto de reducir la variabilidad y mejorar la eficiencia en el proceso asistencial. España ha introducido en sus centros vías rápidas orientadas al diagnóstico (VRD) del cáncer colorrectal (CCR) como estrategia preventiva y de mejora asistencial. En el presente trabajo se pretende valorar la eficiencia de las VRD en España, para lo que se relizó una revisión sistemática, en la que se encontraron 11 trabajos, con resultados dispares. En varios de los trabajos se…, Comunicación - póster presentada en el 41º Congreso de la Sociedad Española de Endoscopia Digestiva, celebrado en Alicante del 14 al 16 de noviembre de 2019.



The Incidence of Delirium with its related factors, in our Postsurgical Critical Care Unit. Montecelo Hospital. Pontevedra. Spain

Repositorio: RUNA. Repositorio da Consellería de Sanidade e Sergas
Varela Duran, Marina, MARTINEZ PILLADO, MODESTO, González Vilar, Ángela, Rey Carlin, Raquel, Barreiro Aragunde, Sara, Valero Gómez, Manuel Alberto

Background and Goal of Study: 1-To study the incidence of Delirium in the Postsurgical Critical Care Unit (Reanimation) in the Pontevedra Universitary Hospital. 2-Relate the incidence of Delirium with the specific idiosyncrasia of the Critical Surgical Patients. 3-To estimate the need to implement a specific and protocolized tool for the detection of Delirium in the Unit of Critical Surgical patients. Materials and Methods: Retrospective descriptive observational study. All patients admitted to…, Comunicación presentada en Euroanaesthesia 2018: The European Anaesthesiology Congress, celebrado en Copenague (Dinamarca) del 2 al 4 de junio de 2018.



Efectividad del plan de contingencia de la Unidad de Enfermedad Inflamatoria Intestinal ante la infección de Covid-19.

Repositorio: RUNA. Repositorio da Consellería de Sanidade e Sergas
Carpio López, Daniel, MARTINEZ PILLADO, MODESTO, Salgado Barreira, Angel, Daponte Angueira, Sandra, Díez Lage, Raquel, Fernández Salgado, Estela, Pérez Galindo, Pablo, Turnes Vázquez, Juan

Fundamentos: La toma de decisiones en los hospitales y en sus propios servicios asistenciales apenas está referenciada en la literatura. Durante el período de pandemia por Covid-19, los servicios asistenciales han puesto en marcha planes de contingencia para minimizar las consecuencias del coronavirus en los profesionales y pacientes. Sin embargo, apenas se comparte el despliegue de esos planes de contingencia, ni sus resultados, privando de referencias para refutar, comparar o emular los…



Process mining for the evaluation of fast track diagnostic pathways

Repositorio: RUNA. Repositorio da Consellería de Sanidade e Sergas
Pérez Cachafeiro, Santiago, Said Criado, Ismael, Morán Hermida, Luis Manuel, Salgado Barreira, Angel, Ocampo Fontagordo, Marta, Ledo Rodríguez, Alejandro, Fernández López, Helena, MARTINEZ PILLADO, MODESTO, Turnes Vázquez, Juan

Background: Within the national cancer care strategies, colorectal neoplasm (CRC) is a priority. In a prior experience in Madrid, only 27 out of 112 (24.1%) patients in a fast trak diagnosis (FTD) pathway were diagnosed of CRC. Reasons why patients with CRC do not use FTD are still unknown. We hypothesize that new process analytics techniques, such as process mining, are ideal tools to identify more efficient circuits or clinical pathways in any pathology. We seek to redesign our FTD based on…



Colorectal neoplasm fast track diagnosis pathways

Repositorio: RUNA. Repositorio da Consellería de Sanidade e Sergas
Pérez Cachafeiro, Santiago, Said Criado, Ismael, Morán Hermida, Luis Manuel, Salgado Barreira, Angel, Ocampo Fontagordo, Marta, Ledo Rodríguez, Alejandro, Hernández López, Helena, MARTINEZ PILLADO, MODESTO, Turnes Vázquez, Juan

Background: Clinical pathways are health processes used on subjects with suspicion of certain disease that has a known natural history. Whenever is important to timely achieve a diagnosis or a treatment, processes should be clearly organized. Although treatment management is often clear due to the existence of clinical practice guidelines, there is not such standardization about initial criteria for fast track diagnosis pathways (FTD). As a consequence, there is a big clinical variability,…



Influencia de la gestación de bajo riesgo en la calidad de vida relacionada con la salud percibida por las gestantes

Repositorio: RUNA. Repositorio da Consellería de Sanidade e Sergas
Alvarez Silvares, Esther, Diego Suárez, M Soledad, Almazán Ortega, Raquel, González González, Antonio, Rodríguez Núñez, Roberto

Objetivos: Valorar la calidad de vida relacionadacon la salud (CVRS) percibida por las gestantes debajo riesgo en comparación con los valorespoblacionales de referencia para mujeres delmismo grupo de edad; determinar si la gestaciónde bajo riesgo puede modificar la CVRS percibida;relacionar los «cambios fisiológicos de la gestación»con la pérdida de calidad de vida percibida;obtener valores de CVRS de referencia delcuestionario Medical Outcomes Study (MOS) 36-Item Short Form, o cuestionario SF-…, Objectives The aims of the present study were four-fold: to assess health-related quality of life (QoL) perceived by women with low-risk pregnancies in comparison with reference population values for women in the same age group; to determine whether low risk pregnancy by itself can modify perceived QoL; to determine the association between the physiological changes of pregnancy and perceived loss of QoL; to obtain reference values for QoL from the questionnaire Medical Outcomes Study (MOS) 36-…



Prueba de tuberculina en el control de salud. Importancia para el diagnóstico de infección tuberculosa latente y/o tuberculosis pulmonar. Centro de Salud A Ponte

Repositorio: RUNA. Repositorio da Consellería de Sanidade e Sergas
Corral Caramés, María José, González López, Maria Teresa, López Abel, Bernardo, Almazán Ortega, Raquel

Objetivos: Valorar la importancia de la prueba de tuberculina en el control de salud, para el diagnóstico de infección tuberculosa latente y tuberculosis pulmonar. Pacientes y métodos: Estudio retrospectivo de una cohorte de niños tuberculín-positivos, del Centro de Salud A Ponte (Ourense). Resultados: Estudiamos a 52 niños con prueba de tuberculina positiva; 14 menores de 5 años y 38 entre 5-15 años. Se diagnosticaron 46 infecciones tuberculosas latentes y 6 tuberculosis pulmonares. En el 69,5…, Objetives: To determine the importance of the tuberculin skin test in routine health checks on the diagnosis of the latent tuberculosis infection and pulmonary tuberculosis. Patients and methods: Retrospective study of a tuberculin positive children cohort, from the Primary Attention Center A Ponte (Orense). Results: We have studied 52 children with a positive tuberculin skin test; 14 less than 5 years old and 38 between 5 and 15 years old. 46 latent tuberculosis infections and 6 pulmonary…



Tuberculosis en Ourense

Repositorio: RUNA. Repositorio da Consellería de Sanidade e Sergas
Parente Lamelas, Isaura, Toubes Navarro, Maria Elena, Abal Arca, José, Acuña Fernández, Adelaida, Almazán Ortega, Raquel, Marcos Velázquez, Pedro

INTRODUCCIÓN: La tuberculosis es la enfermedad infecciosa más prevalente en el mundo. La Organización Mundial de la Salud (OMS) estima que un 33% de la población mundial está infectada por Mycobacterium tuberculosis. PACIENTES Y MÉTODOS: Estudio observacional, retrospectivo de una cohorte de pacientes diagnosticados de tuberculosis en la provincia de Ourense en el 2006. Los casos se obtuvieron del Registro Gallego de Tuberculosis. Se recogieron variables clínicas y epidemiológicas referentes a…



Control de tensión arterial en la población de un centro de salud semiurbano

Repositorio: RUNA. Repositorio da Consellería de Sanidade e Sergas
Espandian, Amirashkan, Díaz Fernández, Paula, Calle Custodio, Rosario, Aldana Díaz, Ángela, Fernández Domínguez, María José, Almazán Ortega, Raquel

Objetivos: Conocer la prevalencia de pacientes con buen control de TA entre los hipertensos del C.S. a Carballeira (C.S. semiurbano)- Ourense. Diseño: Estudio observacional transversal Participantes: Muestra de 130 pacientes seleccionados por muestreo aleatorio sistemático de una población diana de 1300 hipertensos en programa. Mediciones principales: edad, sexo, diabetes, dislipemia, tabaco, IR y T.A., tipo de tratamiento y convivencia. Resultados: El 56.9% fueron mujeres. La media de edad fue…



Profilaxis antimicrobiana de la infección de localización quirúrgica: monodosis versus multidosis. Revisión sistemática de Ensayos Clínicos aleatorizados

Repositorio: RUNA. Repositorio da Consellería de Sanidade e Sergas
Fernández, A.B., Almazán Ortega, Raquel, Fernández de Larrea, N, Ariza, G, Martín, A, García, J

Objetivo: Valorar la evidencia científica acerca de la duración óptima de la profilaxis antimicrobiana quirúrgica. Material y Métodos: Revisión sistemática que incluye ensayos clínicos aleatorizados (ECAs) que comparan profilaxis antimicrobiana con monodosis prequirúrgica frente a profilaxis multidosis, publicados hasta Septiembre de 2004. Resultados: Se localizó una revisión sistemática publicada en 1998 que obtiene un OR de 1.04 con un intervalo de confianza (IC) al 95% [0.86-1.27] al…



Aceptación de los implantes subdérmicos como método anticonceptivo, Acceptance of subdermal implants as a contraceptive method

Repositorio: RUNA. Repositorio da Consellería de Sanidade e Sergas
Pato Mosquera, Mónica, Varillas del Río, Carmen, Almazán Ortega, Raquel, Vilouta Romero, Martina, Blanco Pérez, Susana

Los implantes de gestágeno son métodos anticonceptivos de acción prolongada y de elevada eficacia . Evitan los efectos negat ivos de los estrógenos, pero el patrón de sangrado que presentan las mujere s después de su inserción suele ser irregular. El objetivo de este estudio es saber las características de la población de las usuarias en nuestro medio y comparar las tasas de continuación y los efectos secundarios entre los dos tipos de implantes comercializados en nuestro país: Jadelle® e…



Cancer screening in Spain

Repositorio: RUNA. Repositorio da Consellería de Sanidade e Sergas
Ascunce, N, Salas, D, Zubizarreta Alberdi, Raquel, Almazán Ortega, Raquel, Ibáñez, J, Ederra, M

Objective: To describe the current status of breast, colorectal and cervical cancer screening in Spain. Methodology: The situation was analysed on the basis of data drawn from surveys conducted in each autonomous region (Comunidad Autónoma). Results: Currently, breast cancer screening coverage is 100%. In 2007, overall participation was 67.0% with an adherence of 91.2%. The detection rate was 3.4 per thousand, 15.1% intraductal and 30% invasive <1 cm in diameter, with 65% showing axilary…



Epidemiología de la tuberculosis infantil en Galicia, años 1996-2011

Repositorio: RUNA. Repositorio da Consellería de Sanidade e Sergas
Ursua Díaz, María Isabel

[Abstract] Since 2011, the World Health Organization (WHO) has made great strides in approaching and developing methods for estimating the true burden of childhood tuberculosis (TB) and obtaining the recognition it deserves. Approximately one million children develop TB every year and at least 14% die. 51.4% are under 5 years old (< 5 y.). The first global estimates published for 2014 of resistance to isoniazid (H) and multiresistance were 12.1% and 3.2% respectively, while the tuberculosis…, [Resumen] Desde 2011, la Organización mundial de la Salud (OMS) ha avanzado enormemente en el enfoque y desarrollo de métodos para estimar la carga real de la tuberculosis (TB) infantil, y obtener el reconocimiento que se merece. Aproximadamente un millón de niños desarrollan TB cada año y al menos el 14% mueren. El 51,4% son menores de 5 años (< 5 años). Las primeras estimaciones globales publicadas para al año 2014 de resistencia a isoniazida (H) y multirresistencia fueron un 12,1% y 3,2%…, [Resumo]Desde 2011, a Organización Mundial da Saúde (OMS) avanzou enormemente no enfoque e desenvolvemento de métodos para estimar a carga real da tuberculosis (TB) infantil, e obter o recoñecemento que se merece. Aproximadamente un millón de nenos desenvolven TB cada ano e polo menos o 14% morren. O 51,4% son menores de 5 anos (<5 anos). As primeiras estimaciòns globais publicadas para o ano 2014 de resistencia a isoniazida (H) e multirresistencia foron dun 12,1% e 3,2% respectivamente,…



Autocuidados diarios en la prevención del pie diabético, Daily self-care in the prevention of diabetic foot

Repositorio: RUNA. Repositorio da Consellería de Sanidade e Sergas
Rodríguez Robisco, Pilar, Estany Gestal, Ana, Moreno Pestonit, María Teresa, Blázquez Domínguez, María Dolores, Rodríguez Martínez, Francisco Javier

Autocuidados diarios en la prevención del pie diabético en imágenes, Autocoidados diarios na prevención do pé diabético en imaxes



Efectividad de una intervención formativa en prevención de úlceras por presión en una unidad de cuidados quirúrgica: un estudio cuasi experimental, Effectiveness of an educational intervention in pressure ulcer prevention in a sugical intensive care unit: a quasi experimental study

Repositorio: RUNA. Repositorio da Consellería de Sanidade e Sergas
Wandosell Picatoste, María Jesús, Salgado Barreira, Angel, Moreno Pestonit, María Teresa, Rodríguez Villar, Sonia, Paz Baña, María Aurea, Mañá Álvarez, Ana María, Estany Gestal, Ana

Uno de los indicadores más relevantes para evaluar la seguridad del paciente es la incidencia de eventos adversos (EA). Las úlceras por presión (UPP) son un EA con una incidencia muy elevada en las unidades de cuidados intensivos. El objetivo de este estudio es valorar la efectividad de una intervención formativa en prevención de UPP a través de la valoración de la incidencia y la gravedad de las lesiones en una unidad de cuidados intensivos quirúrgicos. Se llevó a cabo un estudio cuasi…, One of the most relevant indicators to assess patient safety is the incidence of adverse events (AE). Pressure Ulcers (PU) are an AE with a high incidence in intensive care units. The aim of this study is to evaluate the effectiveness of a formative intervention on prevention of PU through the assessment of the incidence and the severity of PU in the pre and the post intervention periods, in an intensive care surgical unit. We have carried out a quasi experimental study of pre and post controls…



Comparativa de las características de los casos de tuberculosis detectados por las Unidades de Tuberculosis por búsqueda activa y los declarados de forma pasiva por los profesionales sanitarios. Galicia 2014-2018, Comparison of the characteristics of tuberculosis cases detected by tuberculosis units by active finding and those declared passively by health professionals. Galicia 2014-2018

Repositorio: RUNA. Repositorio da Consellería de Sanidade e Sergas
Conde Sampayo, Alejandro, Ursua Díaz, María Isabel, Cruz Ferro, Elena, Taboada Rodríguez, José Antonio, Hervada Vidal, Xurxo

Fundamentos: La declaración de enfermedades es una herramienta fundamental en salud pública, imprescindible para conocer la magnitud del problema y poder decidir adecuadamente la manera de resolverlo. La búsqueda activa de casos permite recuperar casos que no fueron registrados mediante la declaración pasiva. En este estudio pretendimos analizar si los casos de tuberculosis (TB) detectados por las Unidades de Tuberculosis (UTB) por búsqueda activa eran equiparables a los declarados de forma…



Experiencia de un Comité de ética de la investigación durante la pandemia por COVID-19, Ethics Committee experience during COVID-19 emergency. A brief report

Repositorio: RUNA. Repositorio da Consellería de Sanidade e Sergas
Bugarín González, Rosendo, Romero Yuste, Susana María, LOPEZ VAZQUEZ, PAULA, CASARIEGO ROSON, JUAN RAUL ANTONIO, Carballeda Feijóo, Nuria, CRUZ DEL RIO, JUANA MARIA, Cueva Bañuelos, Juan Fernando, Fernández Rial, José Álvaro, Fernández Trisac, José Luis, Ferreira Díaz, Mª José, Millán Calenti, Rafael Álvaro, Pía Morandeira, Agustín, PRADO CASAL, JORGE, Rodríguez-Tenreiro Sánchez, Carmen, Santos García, Diego, Vázquez Lago, Juan Manuel, Verdejo Gónzalez, Asunción, ZARRA FERRO, IRENE

La crisis sanitaria motivada por el COVID-19 hace necesaria la puesta en marcha, con celeridad, de investigaciones encaminadas a generar evidencias científicas que incidan en el control de sus devastadores efectos. Por ello, fue necesario realizar ajustes en la dinámica de trabajo de los Comités de Ética de la Investigación así como priorizar y agilizar la evaluación de los proyectos relacionados con dicha enfermedad. Este trabajo pretende analizar la actividad la actividad evaluadora del…



Mortality and other adverse outcomes in patients with type 2 diabetes mellitus admitted for COVID-19 in association with glucose-lowering drugs: a nationwide cohort study

Repositorio: RUNA. Repositorio da Consellería de Sanidade e Sergas
Pérez-Belmonte, Luis M., Torres-Peña, José David, López-Carmona, María D., Ayala-Gutiérrez, M. Mar., Fuentes-Jiménez, Francisco, Jorge Huerta, Lucía, Alonso Muñoz, Jaime, Rubio Rivas, Manuel, Madrazo, Manel, Guzmán García, Marcos, Vicente Montes, Beatriz, Fernández Sola, Joaquim, Ena, Javier, González Ferrer, Ruth, Mella Perez, Carmen, Jorge Ripper, Carlos, Napal Lecumberri, José Javier, El Attar Acedo, Iris, Plaza Canteli, Susana, Fuente Cosío, Sara, Amorós Martínez, Francisco, Cortés Rodríguez, Begoña, Pérez-Martínez, Pablo, Ramos-Rincón, José Manuel, Gómez-Huelgas, Ricardo

Background: Limited evidence exists on the role of glucose-lowering drugs in patients with COVID-19. Our main objective was to examine the association between in-hospital death and each routine at-home glucose-lowering drug both individually and in combination with metformin in patients with type 2 diabetes mellitus admitted for COVID-19. We also evaluated their association with the composite outcome of the need for ICU admission, invasive and non-invasive mechanical ventilation, or in-hospital…



Variabilidad de la filiación institucional y recuperación de la producción científica de un hospital, Variability of institutional affiliation and recovery of a hospital´s scientific output

Repositorio: RUNA. Repositorio da Consellería de Sanidade e Sergas
Rodríguez Otero, Maria Carmen, Gutiérrez Couto, Uxía, ROMERO PEREZ, SALOME

Objetivos: analizar la variabilidad de las afiliaciones de una institución sanitaria en la base de datos Scopus y se estudió cómo influye en la recuperación de la producción científica. Métodos: se realizaron búsquedas por autores y autoras, estrategia y nombre normalizado de la institución para comparar la variabilidad de los resultados. Resultados: se constató una pérdida del 44,20 % de documentos en la recuperación por el campo de afiliación normalizada de la base de datos. Conclusiones:…, Objective: The variability of the affiliations of a health institution in the Scopus database is analyzed and how it influences the recovery of scientific production is studied. Methods: Searches were conducted by authors, strategy and standardized name of the institution to compare the variability of the results. Results: There is a loss of 44.20% of documents in the recovery by the standardized affiliation field of the database. Conclusions: After analysing the causes, a number of measures…



Sweat rate and environmental factors in junior Laser class sailors, Tasa de sudoración y factores ambientales en regatistas juveniles de clase Láser

Repositorio: RUNA. Repositorio da Consellería de Sanidade e Sergas
LORENZO GONZALEZ, GUILLERMO JOSE, Toro Prieto-Puga, Jano, Seoane Pillado, María Teresa, Fernandez-Obanza Windscheid, Emiliano Patricio

Summary Introduction: Recent studies have reported differences in sweat rate (SR) in laser class (LC) sailors under extreme environ-mental conditions (EC). This study aimed to determine a ‘standard-like’ SR in junior Laser 4.7 sailors under ‘not-extreme’ weather conditions to achieve an adequate fluid replacement rate for training and racing sessions. Additionally, we analysed the hypothetical relationship between SR and certain environmental factors, not just considering them…, Resumen Introducción: Recientemente, algunos estudios han reportado diferencias en la tasa de sudoración (SR) en regatistas de clase láser (LC) bajo condiciones ambientales (EC) extremas. Este estudio pretende determinar una especie de “SR standard” en regatistas juveniles de Láser 4.7 bajo condiciones “no extremas”, con el objetivo de alcanzar una adecuada reposición de líquidos tanto para entrenamientos como en competición. Adicionalmente, se ha analizado una hipotética…



Long-term carbapenems antimicrobial stewardship program

Repositorio: RUNA. Repositorio da Consellería de Sanidade e Sergas
García Rodríguez, José Francisco, Bardán García, Belén, JUIZ GONZALEZ, PEDRO MIGUEL, Vilariño Maneiro, Laura, Álvarez Díaz, Hortensia, Mariño Callejo, Ana Isabel

Abstract: Objective. To evaluate clinical and antibiotic resistance impact of carbapenems stewardship programs. Methods: descriptive study, pre-post-intervention, between January 2012 and December 2019; 350-bed teaching hospital. Prospective audit and feedback to prescribers was carried out between January 2015 and December 2019. We evaluate adequacy of carbapenems prescription to local guidelines and compare results between cases with accepted or rejected intervention. Analysis of antibiotic-…



Clinical Characteristics and Prognosis of COPD Patients Hospitalized with SARS-CoV-2

Repositorio: RUNA. Repositorio da Consellería de Sanidade e Sergas
Gómez Antúnez, María, Muiño Míguez, Antonio, Bendala Estrada, Alejandro David, Maestro de la Calle, Guillermo, Monge Monge, Daniel, Boixeda, Ramón, Ena, Javier, Mella Perez, Carmen, Antón Santos, Juan Miguel, Lumbreras Bermejo, Carlos

Objective To describe the characteristics and prognosis of patients with COPD admitted to the hospital due to SARS-CoV-2 infection. Methods The SEMI-COVID registry is an ongoing retrospective cohort comprising consecutive COVID-19 patients hospitalized in Spain since the beginning of the pandemic in March 2020. Data on demographics, clinical characteristics, comorbidities, laboratory tests, radiology, treatment, and progress are collected. Patients with COPD were selected and compared to…



The role of Spanish health libraries in scientific publication, El papel de las bibliotecas de ciencias de la salud españolas en la publicación científica

Repositorio: RUNA. Repositorio da Consellería de Sanidade e Sergas
Sobrido, María, Alonso-Martín, Maria-Luisa, Vivas, Montaña, Medino Muñoz, Juan, Gutiérrez Couto, Uxía, Pinín, Carolina

Background: Health libraries have been established as publication support services. Despite its importance, there is currently no study about the services that these centers offer. The aim of this work is to understand the role that libraries play in institutional scientific publishing policies. Material and methods: The sample was taken from the National Catalogue of Hospitals, the list of libraries of the Catalogue of Periodicals in Spanish Health Sciences Libraries (c17) and the National…



Aplicaciones más populares para organizar reuniones y sesiones grupales, Most popular applications for organizing meetings and group sessions

Repositorio: RUNA. Repositorio da Consellería de Sanidade e Sergas
ROMERO PEREZ, SALOME

La pandemia de COVID-19 ha limitado enormemente la posibilidad de celebrar tanto reuniones de trabajo como actividades formativas presenciales. En el ámbito sanitario la formación es una constante y una verdadera necesidad, por eso en esta ocasión en Derm@red os mostraremos los aspectos más destacables de las aplicaciones más conocidas para organizar reuniones y sesiones formativas (videoconferencias). La elección de una u otra dependerá del tipo de actividad que necesitemos…, A pandemia de COVID-19 limitou enormemente a posibilidade de celebrar tanto reunións de traballo como actividades formativas presenciais. No ámbito sanitario a formación é unha constante e unha verdadeira necesidade, por iso nesta ocasión en Derm@red mostrarémosvos os aspectos máis destacables das aplicacións máis coñecidas para organizar reunións e sesións formativas (videoconferencias). A elección dunha ou doutra dependerá do tipo de actividade que necesitemos realizar.



Clinical anatomy of cervical spondylosis

Repositorio: RUNA. Repositorio da Consellería de Sanidade e Sergas
González Uriel, Pablo, Armesto Pérez, Víctor, Suárez Quintanilla, Juan Antonio

The aim of this study is to describe the anatomical alterations in complementary tests (MRI and EMG) in patients with cervicobrachialgia according to sex and age. Retrospective study of 184 patients with cervicobrachialgia who underwent cervical MRI and EMG. The variables analyzed were gender, age, elements of spondylosis (osteophytes, arthropathy, spondylolisthesis and canal stenosis), the type of disc disease (protrusion and herniated disc) and curvature in the sagittal plane. The EMG was…



Conocimiento de la unidad de fisioterapia por parte de los médicos de un servicio de atención primaria rural

Repositorio: RUNA. Repositorio da Consellería de Sanidade e Sergas
Pérez Fernández, María Reyes, Gómez Mosquera, María Dolores, Pascual García, Pilar, ARIAS GOMEZ, MARIA JESUS, Abelleira Ramos, Silvia

Objetivo Conocer si los médicos de un servicio de atención primaria rural utilizan los recursos de la fisioterapia y su grado de satisfacción. Material y métodos Estudio descriptivo observacional y transversal mediante encuesta anónima a los médicos del servicio de AP de Ribadavia en septiembre 2006. Analizadas variables sociodemográficas (edad, sexo, antigüedad en el puesto de trabajo, proximidad a la unidad de fisioterapia) y variables como conocimiento de la cartera de servicios, número de…



La figura del fisioterapeuta de empresa, un reto para la fisioterapia en España, Physiotherapist of company, a challenge for the physiotherapy in Spain

Repositorio: RUNA. Repositorio da Consellería de Sanidade e Sergas
Novoa Castro, Borja, Pérez Fernández, María Reyes, Torrecilla Serrano, Fernándo, Novoa Castro, Raquel

El objetivo principal de este artículo es hacer un balance de la situación actual de los fisioterapeutas de empresa en España y en otros países del mundo y la Unión Europea y analizar los aspectos legales de esta figura en otros países, así como el posible ámbito en el que se podría encajar este profesional en España. Material y métodos. Se ha realizado una revisión bibliográfica de las diferentes legislaciones estatales de los países de la Unión Europea y otros países de nuestro entorno.…



Abordaje terapéutico y preventivo de lesiones en el futbol mediante vendajes funcionales y ortesis: esguince de rodilla y dolor femoropatelar

Repositorio: RUNA. Repositorio da Consellería de Sanidade e Sergas
Novoa Castro, Borja, Pérez Fernández, María Reyes

Objetivo: Analizar la evolución de la investigación en el uso de ortesis y vendajes funcionales como elemento preventivo de las lesiones en el fútbol. Estrategia de búsqueda: se realizó una revisión documental y bibliográfica. Las bases de datos consultadas fueron Medline y Cochrane mediante PubMed. Selección de estudios y datos: Las búsquedas que se han realizado mediante PubMed y clasificadas por dos objetivos de búsqueda, teniendo como objetivo analizar el uso de vendajes funcionales en la…



Evolution of quality of life and health‐related behaviors among Spanish university students

Repositorio: RUNA. Repositorio da Consellería de Sanidade e Sergas
Failde Garrido, José María, Ruiz Soriano, Laura, Pérez Fernández, María Reyes, Lameiras Fernández, María, Rodríguez Castro, Yolanda

Summary At the beginning of their academic studies (testing phase), the quality of life and certain health‐related behaviors were evaluated. Four years later (retest phase), they were reevaluated. Between the two evaluation periods, a health promotion (HP) program was applied. The battery of instruments included measures: health‐related quality of life (HRQOL), alcoholic and nicotine dependence, eating habits, physical activity, and sexual behaviors. It also included a number of…, This study was partially subsidized with funds from the Vice‐rectory of the Ourense Campus (University of Vigo) and by the Social Council of the University of Vigo., Grant/Award Number: Fiscal year 2016‐2017.



Síndrome metabólico y grasa visceral en mujeres con un factor de riesgo cardiovascular, Metabolic syndrome and visceral fat in women with cardiovascular risk factor

Repositorio: RUNA. Repositorio da Consellería de Sanidade e Sergas
Soto Rodríguez, Anxela, García Soidán, José Luis, ARIAS GOMEZ, MARIA JESUS, Leiros Rodriguez, Raquel, Del Alamo Alonso, Alberto, Pérez Fernández, María Reyes

Introducción: las enfermedades cardiovasculares son la primera causa de muerte en las mujeres tras la menopausia, ya que después de esta etapa se producen profundos cambios metabólicos y hormonales que favorecen el desarrollo de síndrome metabólico. Un aumento en el porcentaje de la grasa visceral puede estar relacionado con la aparición de dicho síndrome. Objetivo: establecer la relación entre la grasa visceral y los parámetros del síndrome metabólico y determinar el punto de corte óptimo para…



Ensayo clínico con intervención educativa en mujeres perimenopáusicas con un factor de riesgo cardiovascular, Clinical trial with educational intervention in perimenopausal women with cardiovascular risk factor

Repositorio: RUNA. Repositorio da Consellería de Sanidade e Sergas
Soto Rodríguez, Anxela, Garcia Soidán, José Luis, De Toro Santos, José Manuel, ARIAS GOMEZ, MARIA JESUS, Rodríguez González, Manuel, Pérez Fernández, María Reyes

Objetivo: Evaluar si una intervención educativa en mujeres en edad perimenopáusica con diabetes mellitus, hipertensión o dislipidemia podría mejorar aspectos relacionados con la calidad de vida o el ejercicio físico. Métodos: Ensayo clínico aleatorizado. Variables: actividad física, calidad de vida y peso en mujeres de 45-60 años de edad (n = 320) en el momento 0 y 12 meses después de la intervención. Grupo de intervención: tres talleres interactivos sobre prevención de enfermedad…



Evaluación de la satisfacción del paciente en la teleconsulta durante la pandemia por COVID-19, User satisfaction with telephonic consultations carried out during the COVID-19 pandemic

Repositorio: RUNA. Repositorio da Consellería de Sanidade e Sergas
Ruiz-Romero, Victoria, MARTINEZ PILLADO, MODESTO, Torres-Domínguez, Yolanda, Acón-Royo, Dolores, De Toro-Salas, Antonio, Cruz-Villalón, Fernando, Rivera-Sequeiros, Adriana

Objective: To face the COVID-19 pandemic, our intensive care and hospitalization units were expanded, surgical activity was limited to urgent and non-delayed procedures and teleconsultations were increased in order to minimize face-to-face consultations. The objective of this work was to learn users' satisfaction with teleconsultations performed during the pandemic as well as its benefits, applications and areas for improvement. Methods: Cross-sectional study through a questionnaire with…, Instituto de Salud Carlos III (ISCIII) -FEDER/Programa AES



Postlaunch evidence-generation studies for medical devices in Spain: the RedETS approach to integrate real-world evidence into decision making

Repositorio: RUNA. Repositorio da Consellería de Sanidade e Sergas
Serrano Aguilar, Pedro, Gutiérrez Ibarlucea, Iñaki, Díaz, Pilar, Imaz Iglesia, Iñaki, González Enríquez, Jesús, Castro, José Luis, Espallargues Carreras, Mireia, García Armesto, Sandra, Arriola Bolado, Paloma, Rivero Santana, Amado, Perestelo Pérez, Lilisbeth, González Pacheco, Himar, Álvarez Pérez, Yolanda, Faraldo Vallés, María José, PUÑAL RIOBOO, JANET, Ramallo-Fariña, Yolanda, Sánchez-Gómez, Luis María, Asua-Batarrita, José, Reviriego-Rodrigo, Eva, Moreno-Rodríguez, Anai, Juárez-Rojo, Celia, Vicente-Saiz, Marisa, Orejas-Pérez, Eugenia, Knabe-Guerra, Jutta, Prieto-Yerro, Isabel, González del Yerro-Valdés, Cristina

The Monitoring Studies (MS) program, the approach developed by RedETS to generate postlaunch real-world evidence (RWE), is intended to complement and enhance the conventional health technology assessment process to support health policy decision making in Spain, besides informing other interested stakeholders, including clinicians and patients. The MS program is focused on specific uncertainties about the real effect, safety, costs, and routine use of new and insufficiently assessed relevant…



Low nadir CD4+ T-cell counts predict gut dysbiosis in HIV-1 infection

Repositorio: RUNA. Repositorio da Consellería de Sanidade e Sergas
Guillén, Yolanda, Nogueira-Julian, Marc, Rivera, Javier, Casadellá, Maria, Zevin, Alexander S, Rocafort, Muntsa, Parera, Mariona, Rodríguez, Cristina, Arumí, Marçal, Carrillo, Jorge, Mothe, Beatriz, Estany, Carla, Coll, Josep, Bravo, Isabel, Herrero, Cristina, Saz, Jorge, Sirera, Guillem, Torrella, Ariadna, Navarro, Jordi, CRESPO CASAL, MANUEL, Negredo, Eugènia, Brander, Christian, Blanco, Julià, Calle, María Luz, Klatt, Nichole R, Clotet, Bonaventura, Paredes, Roger

Human immunodeficiency virus (HIV)-1 infection causes severe gut and systemic immune damage, but its effects on the gut microbiome remain unclear. Previous shotgun metagenomic studies in HIV-negative subjects linked low-microbial gene counts (LGC) to gut dysbiosis in diseases featuring intestinal inflammation. Using a similar approach in 156 subjects with different HIV-1 phenotypes, we found a strong, independent, dose-effect association between nadir CD4+ T-cell counts and LGC. As in other…, Fundació Glòria Soler, Fundació Catalunya-La Pedrera, Gala SIDA 2015-2016, Nit per la Recerca a la Catalunya Central 2015 edition, People in Red-Barcelona 2016 edition, RED de SIDA RD16/0025/0041, ISCIII, European Regional Develpment Fund (ERDF), Agencia de Gestio d´Ajuts Universitaris i de Recerca (AGAUR), Secretaria d´Universitats i Recerca del Departament d´Economia i Coneixement de la Generalitat de Catalunya, Ministerio de Economia y Competitividad. España, Universidad de Whashington



Polygenic Risk Scores for Prediction of Breast Cancer and Breast Cancer Subtypes

Repositorio: RUNA. Repositorio da Consellería de Sanidade e Sergas
Mavaddat, N., Michailidou, K., Dennis, J., Lush, M., Fachal, L., Lee, A., Tyrer, J. P., Chen, T. H., Wang, Q., Bolla, M. K., Yang, X., Adank, M. A., Ahearn, T., Aittomaki, K., Allen, J., Andrulis, I. L., Anton-Culver, H., Antonenkova, N. N., Arndt, V., Aronson, K. J., Auer, P. L., Auvinen, P., Barrdahl, M., Beane Freeman, L. E., Beckmann, M. W., Behrens, S., Benitez, J., Bermisheva, M., Bernstein, L., Blomqvist, C., Bogdanova, N. V., Bojesen, S. E., Bonanni, B., Borresen-Dale, A. L., Brauch, H., Bremer, M., Brenner, H., Brentnall, A., Brock, I. W., Brooks-Wilson, A., Brucker, S. Y., Bruning, T., Burwinkel, B., Campa, D., Carter, B. D., Castelao Fernández, José Esteban, Chanock, S. J., Chlebowski, R., Christiansen, H., Clarke, C. L., Collee, J. M., Cordina-Duverger, E., Cornelissen, S., Couch, F. J., Cox, A., Cross, S. S., Czene, K., Daly, M. B., Devilee, P., Dork, T., Dos-Santos-Silva, I., Dumont, M., Durcan, L., Dwek, M., Eccles, D. M., Ekici, A. B., Eliassen, A. H., Ellberg, C., Engel, C., Eriksson, M., Evans, D. G., Fasching, P. A., Figueroa, J., Fletcher, O., Flyger, H., Forsti, A., Fritschi, L., Gabrielson, M., Gago Dominguez, Manuela, Gapstur, S. M., Garcia-Saenz, J. A., Gaudet, M. M., Georgoulias, V., Giles, G. G., Gilyazova, I. R., Glendon, G., Goldberg, M. S., Goldgar, D. E., Gonzalez-Neira, A., Grenaker Alnaes, G. I., Grip, M., Gronwald, J., Grundy, A., Guenel, P., Haeberle, L., Hahnen, E., Haiman, C. A., Hakansson, N., Hamann, U., Hankinson, S. E., Muñoz Garzón, Victor, others

Stratification of women according to their risk of breast cancer based on polygenic risk scores (PRSs) could improve screening and prevention strategies. Our aim was to develop PRSs, optimized for prediction of estrogen receptor (ER)-specific disease, from the largest available genome-wide association dataset and to empirically validate the PRSs in prospective studies. The development dataset comprised 94,075 case subjects and 75,017 control subjects of European ancestry from 69 studies,…



Burden and Characteristics of the Comorbidity Tuberculosis-Diabetes in Europe: TBnet Prevalence Survey and Case-Control Study

Repositorio: RUNA. Repositorio da Consellería de Sanidade e Sergas
Sane Schepisi, M., Navarra, A., Altet Gomez, M. N., Dudnyk, A., Dyrhol-Riise, A. M., Esteban, J., Giorgetti, P. F., Gualano, G., Guglielmetti, L., Heyckendorf, J., Kaluzhenina, A., Lange, B., Lange, C., Manika, K., Miah, J., Nanovic, Z., Pontali, E., Rios Prego, Mónica, Solovic, I., Tiberi, S., Palmieri, F., Girardi, E.

Background: The growing burden of diabetes mellitus (DM) is posing a threat to global tuberculosis (TB) control. DM triples the risk of developing TB, modifies the presenting features of pulmonary TB, and worsens TB treatment outcomes. We aimed to analyze the prevalence of DM among TB patients and to describe the characteristics and clinical presentation of TB-DM patients in Europe. Methods: We performed a cross-sectional survey on the prevalence of DM among consecutively diagnosed adult TB…



Una aproximación a los conocimientos en ética de la investigación clínica de los profesionales sanitarios de un área sanitaria, An approach to knowledge in ethics of clinical research of health professionals in a health area, Un achegamento ao coñecemento en ética da investigación clínica dos profesionais sanitarios dunha área sanitaria

Repositorio: RUNA. Repositorio da Consellería de Sanidade e Sergas
Sastre Gervás, María Isabel, CRUZ DEL RIO, JUANA MARIA, Cal Purriños, Natalia

Objetivo: Estimar en una muestra de profesionales sanitarios el nivel de conocimiento teórico y las necesidades de aprendizaje en el campo de la ética de la investigación clínica con datos Diseño: Estudio observacional descriptivo transversal. Emplazamiento: Atención Primaria y Atención Hospitalaria. Participantes: Profesionales sanitarios del Servizo Galego de Saúde asistentes a un curso de formación avanzada en Farmacología impartido en un hospital universitario entre enero y junio de 2019.…, Objective: To estimate in a sample of health professionals the level of theoretical knowledge and learning needs in the field of ethics of clinical research with health data. Design: Cross-sectional descriptive observational study. Setting: Primary Care and Hospital Care. Participants: Health professionals from the Servizo Galego de Saúde attending an advanced training course in Pharmacology at a university hospital between january and june 2019. Interventions: Anonymous self-administered…



Los valores relacionados con la formación de profesionales sanitarios en un entorno COVID-19

Repositorio: RUNA. Repositorio da Consellería de Sanidade e Sergas
MARTINEZ PILLADO, MODESTO, Varela Duran, Marina

The coronavirus pandemic has subjected our Health Services to a stress test like never before. It has been a critical time for decision-making in situations of uncertainty both for clinicians, as public health specialists, and for health managers. In this article, we want to share a reflection on the window of opportunity that opens for the consideration of values ??that this pandemic has shown us. We refer to values ??that should be brought to the fore in the training of health professionals…, La pandemia del coronavirus ha sometido a nuestros servicios de salud a una prueba de estrés como nunca se había vivido. Ha supuesto un momento álgido para la toma de decisiones en situaciones de incertidumbre tanto para clínicos, como para especialistas en salud pública y directivos sanitarios. En este artículo queremos compartir una reflexión sobre la ventana de oportunidad que se abre para la puesta en consideración de valores que nos ha mostrado esta pandemia. Nos referimos a valores que…, Instituto de Salud Carlos III



Do Hospital Profesor Nóvoa Santos ao Complexo Hospitalario de Catabois

Repositorio: RUNA. Repositorio da Consellería de Sanidade e Sergas
VELOSO RODRIGUEZ, RAMON EDUARDO

En este documento se presenta un breve recorrido por la historia del Complejo Hospitalario de Ferrol., Neste documento preséntase un breve percorrido pola historia do Complexo Hospitalario de Ferrol.



Longer-term results of a Universal Electronic Consultation Program at the Cardiology Department of a Galician Healthcare Area

Repositorio: RUNA. Repositorio da Consellería de Sanidade e Sergas
REY ALDANA, DANIEL, Mazón Ramos, María Pilar, Portela Romero, Manuel, Cinza Sanjurjo, Sergio, Álvarez Álvarez, Belén, Agra Bermejo, Rosa Maria, Rigueiro Veloso, Pedro, Espasandín Domínguez, Jenifer, Gude Sampedro, Francisco, González Juanatey, José Ramón

Background: Telemedicine models play a key role in organizing the growing demand for care and healthcare accessibility, but there are not described longer-term results in health care. Our objective is to assess the longer-term results (delay time in care, accessibility and hospital admissions) of an electronic consultation (e-consultation) outpatient care management program. Methods: Epidemiological and clinical data were obtained from the 41,258 patients referred by primary care to the…



Low nadir CD4+ T-cell counts predict gut dysbiosis in HIV-1 infection

Repositorio: RUNA. Repositorio da Consellería de Sanidade e Sergas
Guillen, Y., Noguera-Julian, M., Rivera, J., Casadella, M., Zevin, A. S., Rocafort, M., Parera, M., Rodriguez, C., Arumi, M., Carrillo, J., Mothe, B., Estany, C., Coll, J., Bravo, I., Herrero, C., Saz, J., Sirera, G., Torrella, A., Navarro, J., CRESPO CASAL, MANUEL, Negredo, E., Brander, C., Blanco, J., Calle, M. L., Klatt, N. R., Clotet, B., Paredes, R.

Human immunodeficiency virus (HIV)-1 infection causes severe gut and systemic immune damage, but its effects on the gut microbiome remain unclear. Previous shotgun metagenomic studies in HIV-negative subjects linked low-microbial gene counts (LGC) to gut dysbiosis in diseases featuring intestinal inflammation. Using a similar approach in 156 subjects with different HIV-1 phenotypes, we found a strong, independent, dose-effect association between nadir CD4+ T-cell counts and LGC. As in other…



Polygenic Risk Scores for Prediction of Breast Cancer and Breast Cancer Subtypes

Repositorio: RUNA. Repositorio da Consellería de Sanidade e Sergas
Mavaddat, N., Michailidou, K., Dennis, J., Lush, M., Fachal, L., Lee, A., Tyrer, J. P., Chen, T. H., Wang, Q., Bolla, M. K., Yang, X., Adank, M. A., Ahearn, T., Aittomaki, K., Allen, J., Andrulis, I. L., Anton-Culver, H., Antonenkova, N. N., Arndt, V., Aronson, K. J., Auer, P. L., Auvinen, P., Barrdahl, M., Beane Freeman, L. E., Beckmann, M. W., Behrens, S., Benitez, J., Bermisheva, M., Bernstein, L., Blomqvist, C., Bogdanova, N. V., Bojesen, S. E., Bonanni, B., Borresen-Dale, A. L., Brauch, H., Bremer, M., Brenner, H., Brentnall, A., Brock, I. W., Brooks-Wilson, A., Brucker, S. Y., Bruning, T., Burwinkel, B., Campa, D., Carter, B. D., Castelao Fernández, José Esteban, Chanock, S. J., Chlebowski, R., Christiansen, H., Clarke, C. L., Collee, J. M., Cordina-Duverger, E., Cornelissen, S., Couch, F. J., Cox, A., Cross, S. S., Czene, K., Daly, M. B., Devilee, P., Dork, T., Dos-Santos-Silva, I., Dumont, M., Durcan, L., Dwek, M., Eccles, D. M., Ekici, A. B., Eliassen, A. H., Ellberg, C., Engel, C., Eriksson, M., Evans, D. G., Fasching, P. A., Figueroa, J., Fletcher, O., Flyger, H., Forsti, A., Fritschi, L., Gabrielson, M., Gago Dominguez, Manuela, Gapstur, S. M., Garcia-Saenz, J. A., Gaudet, M. M., Georgoulias, V., Giles, G. G., Gilyazova, I. R., Glendon, G., Goldberg, M. S., Goldgar, D. E., Gonzalez-Neira, A., Grenaker Alnaes, G. I., Grip, M., Gronwald, J., Grundy, A., Guenel, P., Haeberle, L., Hahnen, E., Haiman, C. A., Hakansson, N., Hamann, U., Hankinson, S. E., Muñoz Garzón, Victor, others

Stratification of women according to their risk of breast cancer based on polygenic risk scores (PRSs) could improve screening and prevention strategies. Our aim was to develop PRSs, optimized for prediction of estrogen receptor (ER)-specific disease, from the largest available genome-wide association dataset and to empirically validate the PRSs in prospective studies. The development dataset comprised 94,075 case subjects and 75,017 control subjects of European ancestry from 69 studies,…



Burden and Characteristics of the Comorbidity Tuberculosis-Diabetes in Europe: TBnet Prevalence Survey and Case-Control Study

Repositorio: RUNA. Repositorio da Consellería de Sanidade e Sergas
Sane Schepisi, M., Navarra, A., Altet Gomez, M. N., Dudnyk, A., Dyrhol-Riise, A. M., Esteban, J., Giorgetti, P. F., Gualano, G., Guglielmetti, L., Heyckendorf, J., Kaluzhenina, A., Lange, B., Lange, C., Manika, K., Miah, J., Nanovic, Z., Pontali, E., Rios Prego, Mónica, Solovic, I., Tiberi, S., Palmieri, F., Girardi, E.

Background: The growing burden of diabetes mellitus (DM) is posing a threat to global tuberculosis (TB) control. DM triples the risk of developing TB, modifies the presenting features of pulmonary TB, and worsens TB treatment outcomes. We aimed to analyze the prevalence of DM among TB patients and to describe the characteristics and clinical presentation of TB-DM patients in Europe. Methods: We performed a cross-sectional survey on the prevalence of DM among consecutively diagnosed adult TB…



Imaging Biomarkers in Translational Small Animal Models

Repositorio: RUNA. Repositorio da Consellería de Sanidade e Sergas
Aguiar Fernández, Pablo, Fernández Ferreiro, Anxo, Aguiar, P., Fernández-Ferreiro, A., Galli, F., Tsoumpas, C.




Glucagon Control on Food Intake and Energy Balance

Repositorio: RUNA. Repositorio da Consellería de Sanidade e Sergas
Al-Massadi, O., Fernø, J., Diéguez González, Carlos, Nogueiras Pozo, Rubén, Quiñones, M.

Glucagon exerts pleiotropic actions on energy balance and has emerged as an attractive target for the treatment of diabetes and obesity in the last few years. Glucagon reduces body weight and adiposity by suppression of appetite and by modulation of lipid metabolism. Moreover, this hormone promotes weight loss by activation of energy expenditure and thermogenesis. In this review, we cover these metabolic actions elicited by glucagon beyond its canonical regulation of glucose metabolism. In…



Do polygenic risk and stressful life events predict pharmacological treatment response in obsessive compulsive disorder? A gene-environment interaction approach

Repositorio: RUNA. Repositorio da Consellería de Sanidade e Sergas
Alemany-Navarro, M., Costas Costas, Javier, Real, E., Segalàs, C., Bertolín, S., Domènech, L., Rabionet, R., Carracedo Álvarez, Ángel, Menchón, J. M., Alonso, P.

The rate of response to pharmacological treatment in Obsessive-compulsive disorder (OCD) oscillates between 40 and 70%. Genetic and environmental factors have been associated with treatment response in OCD. This study analyzes the predictive ability of a polygenic risk score (PRS) built from OCD-risk variants, for treatment response in OCD, and the modulation role of stressful life events (SLEs) at the onset of the disorder. PRSs were calculated for a sample of 103 patients. Yale-Brown…



Enzyme-Loaded Gel Core Nanostructured Lipid Carriers to Improve Treatment of Lysosomal Storage Diseases: Formulation and In Vitro Cellular Studies of Elosulfase Alfa-Loaded Systems

Repositorio: RUNA. Repositorio da Consellería de Sanidade e Sergas
Álvarez González, José Victor, Herrero Filgueira, Carolina, González, A. F., Colón Mejeras, Cristobal, Beiras Iglesias, A., Tomatsu, S., Blanco Méndez, J., Luzardo Álvarez, A., Couce Pico, María Luz, Otero Espinar, F. J.

Mucopolysaccharidosis IVA (Morquio A) is a rare inherited metabolic disease caused by deficiency of the lysosomal enzyme N-acetylgalatosamine-6-sulfate-sulfatase (GALNS). Until now, treatments employed included hematopoietic stem cell transplantation and enzyme replacement therapy (ERT); the latter being the most commonly used to treat mucopolysaccharidoses, but with serious disadvantages due to rapid degradation and clearance. The purpose of this study was to develop and evaluate the potential…



Rapid evolution and biogeographic spread in a colorectal cancer

Repositorio: RUNA. Repositorio da Consellería de Sanidade e Sergas
Alves, J. M., Prado-López, S., Cameselle Teijeiro, Jose Manuel, Posada, D.

How and when tumoral clones start spreading to surrounding and distant tissues is currently unclear. Here we leveraged a model-based evolutionary framework to investigate the demographic and biogeographic history of a colorectal cancer. Our analyses strongly support an early monoclonal metastatic colonization, followed by a rapid population expansion at both primary and secondary sites. Moreover, we infer a hematogenous metastatic spread under positive selection, plus the return of some tumoral…



Common Variants in 22 Genes Regulate Response to Metformin Intervention in Children with Obesity: A Pharmacogenetic Study of a Randomized Controlled Trial

Repositorio: RUNA. Repositorio da Consellería de Sanidade e Sergas
Anguita-Ruiz, A., Pastor-Villaescusa, B., Leis Trabazo, María Rosaura, Bueno, G., Hoyos, R., Vázquez Cobela, Rocio, Latorre-Millán, M., Cañete, M. D., Caballero-Villarraso, J., Gil, Á, Cañete, R., Aguilera, C. M.

Metformin is a first-line oral antidiabetic agent that has shown additional effects in treating obesity and metabolic syndrome. Inter-individual variability in metformin response could be partially explained by the genetic component. Here, we aimed to test whether common genetic variants can predict the response to metformin intervention in obese children. The study was a multicenter and double-blind randomized controlled trial that was stratified according to sex and pubertal status in 160…



X chromosome genetic data in a Spanish children cohort, dataset description and analysis pipeline

Repositorio: RUNA. Repositorio da Consellería de Sanidade e Sergas
Anguita-Ruiz, A., Plaza-Diaz, J., Ruiz-Ojeda, F. J., Rupérez, A. I., Leis Trabazo, María Rosaura, Bueno, G., Gil-Campos, M., Vázquez Cobela, Rocio, Cañete, R., Moreno, L. A., Gil, Á, Aguilera, C. M.

X chromosome genetic variation has been proposed as a potential source of missing heritability for many complex diseases, including obesity. Currently, there is a lack of public available genetic datasets incorporating X chromosome genotype data. Although several X chromosome-specific statistics have been developed, there is also a lack of readily available implementations for routine analysis. Here, we aimed: (1) to make public and describe a dataset incorporating phenotype and X chromosome…



Primary systemic therapy in HER2-positive operable breast cancer using trastuzumab and chemotherapy: efficacy data, cardiotoxicity and long-term follow-up in 142 patients diagnosed from 2005 to 2016 at a single institution

Repositorio: RUNA. Repositorio da Consellería de Sanidade e Sergas
Antolín Novoa, Silvia, Acea Nebril, Benigno, Albaina Latorre, Luis, Concha Lopez, Angel, Santiago Freijanes, Mª Paz, García-Caballero Parada, Tomas, Mosquera Oses, Joaquín José, Varela Romero, José Ramón, Soler Fernandez, Rafaela, Calvo Martínez, Lourdes

Objective: The aim of this study was to evaluate the efficacy, cardiotoxicity profile and long-term benefits of neoadjuvant therapy in human epidermal growth factor receptor 2-positive operable breast cancer patients. Patients and methods: A total of 142 patients diagnosed from 2005 to 2016 were included in the study. The treatment consisted of a sequential regimen of taxanes and anthracyclines plus trastuzumab. The clinical and pathological responses were evaluated and correlated with clinical…



Light-Emitting Diode Photobiomodulation After Cerebral Ischemia

Repositorio: RUNA. Repositorio da Consellería de Sanidade e Sergas
Argibay González, Bárbara, Campos Pérez, Francisco, Pérez Mato, María, Vieites Prado, Alba, Correa Paz, Clara, López Arias, Esteban, Da Silva Candal, Andrés Alexander, Moreno, V., Montero, C., Sobrino Moreiras, Tomas, Castillo Sánchez, José, Iglesias Rey, Ramón

Photobiomodulation (PBM) therapy is a promising therapeutic approach for several pathologies, including stroke. The biological effects of PBM for the treatment of cerebral ischemia have previously been explored as a neuroprotective strategy using different light sources, wavelengths, and incident light powers. However, the capability of PBM as a novel alternative therapy to stimulate the recovery of the injured neuronal tissue after ischemic stroke has been poorly explored. The aim of this…



Relation of the Psychological Constructs of Resilience, Mindfulness, and Self-Compassion on the Perception of Physical and Mental Health

Repositorio: RUNA. Repositorio da Consellería de Sanidade e Sergas
Asensio-Martínez, Á, Oliván-Blázquez, B., Montero-Marín, J., Masluk, B., Fueyo-Díaz, R., Gascón-Santos, S., Gude Sampedro, Francisco, González Quintela, Arturo, García-Campayo, J., Magallón-Botaya, R.

Purpose: Health factors that enhance an individual's ability to perceive and maintain health and well-being are referred to as "health assets". Of these assets, resilience, mindfulness and self-compassion are considered to be of special importance. The objective of this study was to analyze the association between these psychological constructs on the perception of physical and mental health in a general population. Patients and methods: A descriptive and analytical cross-…



Prediction of major adverse cardiac, cerebrovascular events in patients with diabetes after acute coronary syndrome

Repositorio: RUNA. Repositorio da Consellería de Sanidade e Sergas
Baluja González, María Aurora, Rodríguez Mañero, Moises, Cordero, A., Kreidieh, B., IGLESIAS ALVAREZ, DIEGO, García Acuña, José María, Martínez Gómez, Álvaro, Agra Bermejo, Rosa Maria, Álvarez Rodríguez, Leyre, ABOU JOKH CASAS, CHARIGAN, López-Ratón, M., Gude Sampedro, Francisco, Álvarez Escudero, Julián, González Juanatey, José Ramón

BACKGROUND AND OBJECTIVES: The risk of major adverse cardiac and cerebrovascular events following acute coronary syndrome is increased in people with diabetes. Predicting out-of-hospital outcomes upon follow-up remains difficult, and no simple, well-validated tools exist for this population at present. We aim to evaluate several factors in a competing risks model for actionable evaluation of the incidence of major adverse cardiac and cerebrovascular events in diabetic outpatients following…



Identification and Characterization of New Variants in FOXRED1 Gene Expands the Clinical Spectrum Associated with Mitochondrial Complex I Deficiency

Repositorio: RUNA. Repositorio da Consellería de Sanidade e Sergas
Barbosa-Gouveia, S., González Vioque, Emiliano, Borges ., Filipa, Gutiérrez-Solana, L., Wintjes, L., Kappen, A., van den Heuvel, L., Leis Trabazo, María Rosaura, Rodenburg, R., Couce Pico, María Luz

Complex I (nicotinamide adenine dinucleotide (NADH): ubiquinone oxidoreductase) is the largest complex of the mitochondrial oxidative phosphorylation system (OXPHOS) system. Forty-four subunits encoded in nuclear and mitochondrial genomes compose this multiprotein complex, its assembly being a highly complex process involving at least 15 additional nuclear encoded assembly factors. Complex I deficiency is a mitochondrial disorder usually associated with early-onset severe multisystem disorders…



ANGPTL-4 is Associated with Obesity and Lipid Profile in Children and Adolescents

Repositorio: RUNA. Repositorio da Consellería de Sanidade e Sergas
Barja Fernández, Silvia, Folgueira Cobos, Cintia, Castelao Taboada, Cecilia, Pena León, Verónica, González Sáenz, Patricia Ester, Vázquez Cobela, Rocio, Aguilera, C. M., Gil-Campos, M., Bueno, G., Gil, Á, Moreno, L. A., Ruiz-Piñon, M., García Palacios, María, Casanueva Freijo, Felipe, Diéguez González, Carlos, Nogueiras Pozo, Rubén, Leis Trabazo, María Rosaura, Seoane Camino, Luisa Maria

Angiopoietin-like protein 4 (ANGPTL-4) regulates lipidic metabolism and affects energy homeostasis. However, its function in children with obesity remains unknown. We investigated plasma ANGPTL-4 levels in children and its relationship with body mass index (BMI) and different lipidic parameters such as free fatty acids (FFA). Plasma ANGPTL-4 levels were analyzed in two different cohorts. In the first cohort (n = 150, age 3-17 years), which included children with normal weight or obesity, we…



Data on hyper-activation of GPVI signalling in obese patients: Towards the identification of novel antiplatelet targets in obesity

Repositorio: RUNA. Repositorio da Consellería de Sanidade e Sergas
Barrachina, M. N., Izquierdo, I., Hermida-Nogueira, L., Martís Sueiro, Aurelio Manuel, Guitián, E., Casanueva Freijo, Felipe, Farndale, R. W., Moroi, M., Jung, S. M., Pardo, M., García, Á

This data article is associated with the manuscript "GPVI surface expression and signalling pathway activation are increased in platelets from obese patients: elucidating potential anti-atherothrombotic targets in obesity" [1]. The study refers to a combination of different approaches in order to identify platelet-derived biomarkers in obesity. A total of 34 obese patients and their lean-matched controls were included in the study. We carried out a proteomic and functional (…



Tumour location and efficacy of first-line EGFR inhibitors in KRAS/RAS wild-type metastatic colorectal cancer: retrospective analyses of two phase II randomised Spanish TTD trials

Repositorio: RUNA. Repositorio da Consellería de Sanidade e Sergas
Benavides, M., Díaz-Rubio, E., Carrato, A., Abad, A., Guillén, C., Garcia-Alfonso, P., Gil, S., Cano, M. T., Safont, M. J., Gravalos, C., Manzano, J. L., Sánchez, A., Alcaide, J., López López, Rafael, Massutí, B., Sastre, J., Martínez, E., Escudero, P., Méndez, M., Aranda, E.

Purpose: Metastatic colorectal cancer (mCRC) is a group of distinct diseases, with clinical and molecular differences between right-sided and left-sided tumours driving varying prognosis. Methods: Patients with KRAS/RAS-wild type (wt) mCRC treated in first line with epidermal growth factor receptor inhibitors (EGFR-Is) (cetuximab or panitumumab) plus oxaliplatin or irinotecan-based chemotherapy from two phase II randomised trials conducted by the Spanish Cooperative for the Treatment of…



Diversity in the emergency care for febrile children in Europe: a questionnaire study

Repositorio: RUNA. Repositorio da Consellería de Sanidade e Sergas
Borensztajn, D., Yeung, S., Hagedoorn, N. N., Balode, A., von Both, U., Carrol, E. D., Dewez, J. E., Eleftheriou, I., Emonts, M., van der Flier, M., de Groot, R., Herberg, J. A., Kohlmaier, B., Lim, E., Maconochie, I., Martinón Torres, Federico, Nijman, R., Pokorn, M., Strle, F., Tsolia, M., Wendelin, G., Zavadska, D., Zenz, W., Levin, M., Moll, H. A.

Objective: To provide an overview of care in emergency departments (EDs) across Europe in order to interpret observational data and implement interventions regarding the management of febrile children. Design and setting: An electronic questionnaire was sent to the principal investigators of an ongoing study (PERFORM (Personalised Risk assessment in Febrile illness to Optimise Real-life Management), www.perform2020.eu) in 11 European hospitals in eight countries: Austria, Germany, Greece,…



Identification of regulatory variants associated with genetic susceptibility to meningococcal disease

Repositorio: RUNA. Repositorio da Consellería de Sanidade e Sergas
Borghini, L., Png, E., Binder, A., Wright, V. J., Pinnock, E., de Groot, R., Hazelzet, J., Emonts, M., Van der Flier, M., Schlapbach, L. J., Anderson, S., Secka, F., Salas, A., Fink, C., Carrol, E. D., Pollard, A. J., Coin, L. J., Kuijpers, T. W., Martinón Torres, Federico, Zenz, W., Levin, M., Hibberd, M. L., Davila, S.

Non-coding genetic variants play an important role in driving susceptibility to complex diseases but their characterization remains challenging. Here, we employed a novel approach to interrogate the genetic risk of such polymorphisms in a more systematic way by targeting specific regulatory regions relevant for the phenotype studied. We applied this method to meningococcal disease susceptibility, using the DNA binding pattern of RELA - a NF-kB subunit, master regulator of the response to…



Genes and Variants Underlying Human Congenital Lactic Acidosis-From Genetics to Personalized Treatment

Repositorio: RUNA. Repositorio da Consellería de Sanidade e Sergas
Bravo-Alonso, I., Navarrete, R., Vega, A. I., Ruíz-Sala, P., García Silva, M. T., Martín-Hernández, E., Quijada-Fraile, P., Belanger-Quintana, A., Stanescu, S., Bueno, M., Vitoria, I., Toledo, L., Couce Pico, María Luz, García-Jiménez, I., Ramos-Ruiz, R., Martín, M., Desviat, L. R., Ugarte, M., Pérez-Cerdá, C., Merinero, B., Pérez, B., Rodríguez-Pombo, P.

Congenital lactic acidosis (CLA) is a rare condition in most instances due to a range of inborn errors of metabolism that result in defective mitochondrial function. Even though the implementation of next generation sequencing has been rapid, the diagnosis rate for this highly heterogeneous allelic condition remains low. The present work reports our group's experience of using a clinical/biochemical analysis system in conjunction with genetic findings that facilitates the taking of timely…



Self-assembled hyaluronan nanocapsules for the intracellular delivery of anticancer drugs

Repositorio: RUNA. Repositorio da Consellería de Sanidade e Sergas
Cadete, A., Olivera, A., Besev, M., Dhal, P. K., Gonçalves, L., Almeida, A. J., Bastiat, G., Benoit, J. P., De La Fuente Freire, María, Garcia-Fuentes, M., Alonso, M. J., Torres, D.

Preparation of sophisticated delivery systems for nanomedicine applications generally involve multi-step procedures using organic solvents. In this study, we have developed a simple self-assembling process to prepare docetaxel-loaded hyaluronic acid (HA) nanocapsules by using a self-emulsification process without the need of organic solvents, heat or high shear forces. These nanocapsules, which comprise an oily core and a shell consisting of an assembly of surfactants and hydrophobically…



Dietary Care for ADPKD Patients: Current Status and Future Directions

Repositorio: RUNA. Repositorio da Consellería de Sanidade e Sergas
Carriazo, S., Perez-Gomez, M. V., Cordido Eijo, Adrian, García González , Miguel Ángel, Sanz, A. B., Ortiz, A., Sanchez-Niño, M. D.

Autosomal dominant polycystic kidney disease (ADPKD) is the most common genetic nephropathy, and tolvaptan is the only therapy available. However, tolvaptan slows but does not stop disease progression, is marred by polyuria, and most patients worldwide lack access. This and recent preclinical research findings on the glucose-dependency of cyst-lining cells have renewed interest in the dietary management of ADPKD. We now review the current dietary recommendations for ADPKD patients according to…



Discovery of Biomarker Panels for Neural Dysfunction in Inborn Errors of Amino Acid Metabolism

Repositorio: RUNA. Repositorio da Consellería de Sanidade e Sergas
Castells, A. A., Gueraldi, D., Balada, R., Tristán-Noguero, A., Cortès-Saladelafont, E., Ramos, F., Meavilla, S., De Los Santos, M., Garcia-Volpe, C., Colomé, R., Couce Pico, María Luz, Sierra, C., Ormazábal, A., Batllori, M., Artuch, R., Armstrong, J., Alcantara, S, Garcia-Cazorla, A

Patients with inborn errors of amino acid metabolism frequently show neuropsychiatric symptoms despite accurate metabolic control. This study aimed to gain insight into the underlying mechanisms of neural dysfunction. Here we analyzed the expression of brain-derived neurotrophic factor (BDNF) and 10 genes required for correct brain functioning in plasma and blood of patients with Urea Cycle Disorders (UCD), Maple Syrup Urine Disease (MSUD) and controls. Receiver-operating characteristic (ROC)…



Influence of Antisynthetase Antibodies Specificities on Antisynthetase Syndrome Clinical Spectrum Time Course

Repositorio: RUNA. Repositorio da Consellería de Sanidade e Sergas
Cavagna, L., Trallero-Araguás, E., Meloni, F., Cavazzana, I., Rojas-Serrano, J., Feist, E., Zanframundo, G., Morandi, V., Meyer, A., Pereira da Silva, J. A., Matos Costa, C. J., Molberg, O., Andersson, H., Codullo, V., Mosca, M., Barsotti, S., Neri, R., Scire, C, Govoni, M., Furini, F., Lopez-Longo, F. J., Martinez-Barrio, J., Schneider, U., Lorenz, H. M., Doria, A., Ghirardello, A., Ortego-Centeno, N., Confalonieri, M., Tomietto, P., Pipitone, N., Rodriguez Cambron, A. B., Blázquez Cañamero, M., Voll, R. E., Wendel, S., Scarpato, S., Maurier, F., Limonta, M., Colombelli, P., Giannini, M., Geny, B., Arrigoni, E., Bravi, E., Migliorini, P., Mathieu, A., Piga, M., Drott, U., Delbrueck, C., Bauhammer, J., Cagnotto, G., Vancheri, C., Sambataro, G., De Langhe, E., Sainaghi, P. P., Monti, C., Gigli Berzolari, F., Romano, M., Bonella, F., Specker, C., Schwarting, A., Villa Blanco, I., Selmi, C., Ceribelli, A., Nuno, L., Mera Varela, Antonio, Pérez Gómez, Nair, Fusaro, E., Parisi, S., Sinigaglia, L., Del Papa, N., Benucci, M., Cimmino, M. A., Riccieri, V., Conti, F., Sebastiani, G. D., Iuliano, A., Emmi, G., Cammelli, D., Sebastiani, M., Manfredi, A., Bachiller-Corral, J., Sifuentes Giraldo, W. A., Paolazzi, G., Saketkoo, L. A., Giorgi, R., Salaffi, F., Cifrian, J., Caporali, R., Locatelli, F., Marchioni, E., Pesci, A., Dei, G., Pozzi, M. R., Claudia, L., Distler, J., Knitza, J., Schett, G., Iannone, F., Fornaro, M., Franceschini, F., Quartuccio, L., Gerli, R., Bartoloni, E., Bellando Randone, S., Zampogna, G., Gonzalez Perez, M. I., Mejia, M., Vicente, E., Triantafyllias, K., Lopez-Mejias, R., Matucci-Cerinic, M., Selva-O'Callaghan, A., Castañeda, S., Montecucco, C., Gonzalez-Gay, M. A.

Antisynthetase syndrome (ASSD) is a rare clinical condition that is characterized by the occurrence of a classic clinical triad, encompassing myositis, arthritis, and interstitial lung disease (ILD), along with specific autoantibodies that are addressed to different aminoacyl tRNA synthetases (ARS). Until now, it has been unknown whether the presence of a different ARS might affect the clinical presentation, evolution, and outcome of ASSD. In this study, we retrospectively recorded the time of…



miRNAs expression of oral squamous cell carcinoma patients: Validation of two putative biomarkers

Repositorio: RUNA. Repositorio da Consellería de Sanidade e Sergas
Chamorro Petronacci, Cintia Micaela, Pérez Sayáns, Mario, Padín Iruegas, M. E., Suárez Peñaranda, Jose Manuel, Lorenzo Pouso, A. I., Blanco Carrión, Andrés, García García, Abel

microRNA expression patterns have provided new directions in the search of biomarkers with prognostic value and even in the search of novel therapeutic targets for several neoplasms. Specifically, miRNAs profiling in oral squamous cell carcinoma (OSCC) represents a web of intrigue in the study of oral carcinogenesis. The objective of the present study was twofold:The first study phase comprised case-control groups: A) 8 OSCC-affected patients and 8 healthy controls. Microarray technology (…



Functional rare variants influence the clinical response to anti-TNF therapy in Crohn's disease

Repositorio: RUNA. Repositorio da Consellería de Sanidade e Sergas
Chaparro, M., Aterido, A., Guerra, I., Iborra, M., Cabriada, J. L., Bujanda, L., Taxonera, C., García-Sánchez, V., Marín-Jiménez, I., Barreiro de Acosta, Manuel, Vera, I., Martín-Arranz, M. D., Hernández-Breijo, B., Mesonero, F., Sempere, L., Gomollón, F., Hinojosa, J., Bermejo, F., Beltrán, B., Rodríguez-Pescador, A., Banales, J.M., Olivares, D., Aguilar-Melero, P., Menchén, L., Ferreiro Iglesias, Rocio, Blázquez Gómez, I., Benítez García, B., Guijarro, L.G., Marín, A.C., Bernardo, D., Marsal, S., Julia, A., Gisbert, J.P.

Background: The effect of low-frequency functional variation on anti-tumor necrosis factor alpha (TNF) response in Crohn's disease (CD) patients remains unexplored. The objective of this study was to investigate the impact of functional rare variants in clinical response to anti-TNF therapy in CD. Methods: CD anti-TNF naïve patients starting anti-TNF treatment due to active disease [Crohn's Disease Activity Index (CDAI > 150)] were included. The whole genome was sequenced using…



EpidemIBD: rationale and design of a large-scale epidemiological study of inflammatory bowel disease in Spain

Repositorio: RUNA. Repositorio da Consellería de Sanidade e Sergas
Chaparro, M., Barreiro de Acosta, Manuel, Benítez, J. M., Casanova, M. J., Ceballos, D., Esteve, M., Fernández, H., Ginard, D., Gomollón, F., Lorente, R., Nos, P., Riestra, S., Rivero, M., Robledo, P., Rodríguez, C., Sicilia, B., Torrella, E., Garre, A., García-Esquinas, E., Rodríguez-Artalejo, F., Gisbert, J.P.

Background: Inflammatory bowel disease (IBD) is associated with a considerable burden to the patient and society. However, current data on IBD incidence and burden are limited because of the paucity of nationwide epidemiological studies, heterogeneous designs, and a low number of participating centers and sample size. The EpidemIBD study is a large-scale investigation to provide an accurate assessment of the incidence of IBD in Spain, as well as treatment patterns and outcomes. Methods: This…



Contribution of trastuzumab to the prognostic improvement of HER2-positive early breast cancer in Spain: an estimation of life years and disease-free life years gained since its approval

Repositorio: RUNA. Repositorio da Consellería de Sanidade e Sergas
Ciruelos, E., Alba, E., López López, Rafael, Lluch, A., Martín, M., Arroyo, I., Navarro, B., Carcedo, D., Colomer, R., Albanell, J.

Introduction: Trastuzumab has become the standard treatment for both HER2-positive early and metastatic breast cancer (HER2+ eBC or mBC) since its approval. The objective of the study is to estimate the benefit of adjuvant trastuzumab in the treatment of patients with HER2+ eBC in terms of life years gained (LYG) and disease-free life years gained (DFLYG) since its approval in Spain in 2006. Results: 35,851 women make up the cohorts from 2006 to 2017. In the T (trastuzumab)+CT (chemotherapy)…



OMIC Technologies and Vaccine Development: From the Identification of Vulnerable Individuals to the Formulation of Invulnerable Vaccines

Repositorio: RUNA. Repositorio da Consellería de Sanidade e Sergas
Cotugno, N., Ruggiero, A., Santilli, V., Manno, E. C., Rocca, S., Zicari, S., Amodio, D., Colucci, M., Rossi, P., Levy, O., Martinón Torres, Federico, Pollard, A. J., Palma, P.

Routine vaccination is among the most effective clinical interventions to prevent diseases as it is estimated to save over 3 million lives every year. However, the full potential of global immunization programs is not realised because population coverage is still suboptimal. This is also due to the inadequate immune response and paucity of informative correlates of protection upon immunization of vulnerable individuals such as newborns, preterm infants, pregnant women, and elderly individuals…



Effects of LC-PUFA Supplementation in Patients with Phenylketonuria: A Systematic Review of Controlled Trials

Repositorio: RUNA. Repositorio da Consellería de Sanidade e Sergas
Couce Pico, María Luz, De Castro López, María José, de Lamas, C., Leis Trabazo, María Rosaura

Evidence suggests a role of long chain polyunsaturated fatty acids (LC-PUFA), in which animal foods are especially rich, in optimal neural development. The LC-PUFAs docosahexaenoic acid (DHA) and arachidonic acid, found in high concentrations in the brain and retina, have potential beneficial effects on cognition, and motor and visual functions. Phenylketonuria (PKU) is the most common inborn error of amino acid metabolism. The treatment of PKU consists of a phenylalanine-free diet, which…



Evolution of tyrosinemia type 1 disease in patients treated with nitisinone in Spain

Repositorio: RUNA. Repositorio da Consellería de Sanidade e Sergas
Couce Pico, María Luz, Sánchez Pintos, Paula, Aldámiz-Echevarría, L., Vitoria, I., Navas, V., Martín-Hernández, E., García-Volpe, C., Pintos, G., Peña-Quintana, L., Hernández, T., Gil, D., Sánchez-Valverde, F., Bueno, M., Roca Otero, Iria, López-Ruzafa, E, Díaz-Fernández, C

Treatment with nitisinone (NTBC) has brought about a drastic improvement in the treatment and prognosis of hereditary tyrosinemia type I (HT1). We conducted a retrospective observational multicentric study in Spanish HT1 patients treated with NTBC to assess clinical and biochemical long-term evolution.We evaluated 52 patients, 7 adults and 45 children, treated with NTBC considering: age at diagnosis, diagnosis by clinical symptoms, or by newborn screening (NBS); phenotype (acute/subacute/…



Management of oligometastatic non-small cell lung cancer patients: Current controversies and future directions

Repositorio: RUNA. Repositorio da Consellería de Sanidade e Sergas
Couñago, F., Luna, J., Guerrero, L. L., Vaquero, B., Guillén-Sacoto, M. C., González-Merino, T., Taboada Valladares, Maria Begoña, Díaz, V., Rubio-Viqueira, B., Díaz-Gavela, A. A., Marcos, F. J., Del Cerro, E.

Oligometastatic non-small cell lung cancer (NSCLC) describes an intermediate stage of NSCLC between localized and widely-disseminated disease. This stage of NSCLC is characterized by a limited number of metastases and a more indolent tumor biology. Currently, the management of oligometastatic NSCLC involves radical treatment (radiotherapy or surgery) that targets the metastatic lesions and the primary tumor to achieve disease control. This approach offers the potential to achieve prolonged…



Characterization of New TRPM8 Modulators in Pain Perception

Repositorio: RUNA. Repositorio da Consellería de Sanidade e Sergas
De Caro, C., Cristiano, C., Avagliano, C., Bertamino, A., Ostacolo, C., Campiglia, P., Gomez-Monterrey, I., La Rana, G., Gualillo ., Oreste, Calignano, A., Russo, R.

Background: Transient Receptor Potential Melastatin-8 (TRPM8) is a non-selective cation channel activated by cold temperature and by cooling agents. Several studies have proved that this channel is involved in pain perception. Although some studies indicate that TRPM8 inhibition is necessary to reduce acute and chronic pain, it is also reported that TRPM8 activation produces analgesia. These conflicting results could be explained by extracellular Ca2+-dependent desensitization that is induced…



Diagnosis, treatment and follow-up of patients with acromegaly in a clinical practice setting in Spain: the ACROPRAXIS program Delphi survey

Repositorio: RUNA. Repositorio da Consellería de Sanidade e Sergas
de Pablos-Velasco, P., Venegas, E. M., Álvarez Escolá, C., Fajardo, C., de Miguel, P., González, N., Bernabeu Morón, Ignacio, Valdés, N., Paja, M., Díez, J. J., Biagetti, B.

AIM: The ACROPRAXIS program aims to describe the management of acromegaly in Spain and provide guidance. METHODS: Ninety-three endocrinologists were organized into 13 panels to discuss the practical issues in managing acromegaly. Based on the key learning



Exploring the use of assistive products to promote functional independence in self-care activities in the bathroom

Repositorio: RUNA. Repositorio da Consellería de Sanidade e Sergas
De-Rosende-Celeiro, I., Torres, G., Seoane Bouzas, María Mercedes, Ávila, A.

In homes, problems in daily functioning of older people often occur in the bathroom, especially in the transfers to the toilet and/or shower/bath. Assistive products have the potential to maximise functional independence (i.e. performance without assistance from another person) in everyday activities; however, more research is needed to better understand the impact of this technology on independence in the transfers in the bathroom. Additionally, little is known about the role of the…



IHDIP: a controlled randomized trial to assess the security and effectiveness of the incremental hemodialysis in incident patients

Repositorio: RUNA. Repositorio da Consellería de Sanidade e Sergas
Deira, J., Suárez, M. A., López, F., García-Cabrera, E., Gascón, A., Torregrosa, E., García Rodríguez, Giannina Elena, Huertas, J., de la Flor, J. C., PUELLO MARTINEZ, SULEYKA, Gómez-Raja, J., Grande, J., Lerma, J. L., Corradino, C., Musso, C., Martín, J., Basile, C., Casino, F.G.

Background: Most people who make the transition to renal replacement therapy (RRT) are treated with a fixed dose thrice-weekly hemodialysis réegimen, without considering their residual kidney function (RKF). Recent papers inform us that incremental hemodialysis is associated with preservation of RKF, whenever compared with conventional hemodialysis. The objective of the present controlled randomized trial (RCT) is to determine if start HD with one sessions per week (1-Wk/HD), it is associated…



The Role of Growth Hormone on Ovarian Functioning and Ovarian Angiogenesis

Repositorio: RUNA. Repositorio da Consellería de Sanidade e Sergas
Devesa, J., CAICEDO VALDES, DIEGO JESUS

Although not yet well-understood, today it is clear that Growth Hormone (GH) exerts a relevant role in the regulation of ovulation and fertility; in fact, fertility is lower in women with GH deficiency (GHD), and GH receptors (GHR) and GH mRNA have been found in the ovary since the onset of follicular development in humans. However, despite the strong evidence of GH in the regulation of fertility, many aspects of GH actions at this level are still not well-established, and it is likely that…



Automatic Visual Acuity Estimation by Means of Computational Vascularity Biomarkers Using Oct Angiographies

Repositorio: RUNA. Repositorio da Consellería de Sanidade e Sergas
Díaz, M., Díez Sotelo, Marta, Gómez-Ulla de Irazazabal, Francisco, Novo, J., Penedo, M. F. G., Ortega, M.

Optical Coherence Tomography Angiography (OCTA) constitutes a new non-invasive ophthalmic image modality that allows the precise visualization of the micro-retinal vascularity that is commonly used to analyze the foveal region. Given that there are many systemic and eye diseases that affect the eye fundus and its vascularity, the analysis of that region is crucial to diagnose and estimate the vision loss. The Visual Acuity (VA) is typically measured manually, implying an exhaustive and time-…



Automatic segmentation of the foveal avascular zone in ophthalmological OCT-A images

Repositorio: RUNA. Repositorio da Consellería de Sanidade e Sergas
Díaz, M., Novo, J., Cutrín Aller, Paula, Gómez-Ulla de Irazazabal, Francisco, Penedo, M. G., Ortega, M.

Angiography by Optical Coherence Tomography (OCT-A) is a non-invasive retinal imaging modality of recent appearance that allows the visualization of the vascular structure at predefined depths based on the detection of the blood movement through the retinal vasculature. In this way, OCT-A images constitute a suitable scenario to analyze the retinal vascular properties of regions of interest as is the case of the macular area, measuring the characteristics of the foveal vascular and avascular…



Multimodality Imaging Approach for Combined Central Retinal Vein and Artery Occlusion: The Role of Optical Coherence Tomography Angiography

Repositorio: RUNA. Repositorio da Consellería de Sanidade e Sergas
Díez Sotelo, Marta, Abraldes Lopez-Veiga, Maximino, Gómez-Ulla de Irazazabal, Francisco

Combined central retinal artery and vein occlusion is an uncommon vascular pathology that can cause severe and permanent visual impairment. Optical coherence tomography angiography (OCTA) is a newly available, noninvasive imaging technique that can potentially improve understanding of the structural and vascular implications and prognosis of this infrequent pathology. The present report describes the principal clinical findings in a case of combined central retinal artery and vein occlusion, as…



A Novel Automatic Method to Estimate Visual Acuity and Analyze the Retinal Vasculature in Retinal Vein Occlusion Using Swept Source Optical Coherence Tomography Angiography

Repositorio: RUNA. Repositorio da Consellería de Sanidade e Sergas
Díez Sotelo, Marta, Díaz, M., Abraldes Lopez-Veiga, Maximino, Gómez-Ulla, F., G Penedo, M., Ortega, M.

The assessment of vascular biomarkers and their correlation with visual acuity is one of the most important issues in the diagnosis and follow-up of retinal vein occlusions (RVOs). The high workloads of clinical practice make it necessary to have a fast, objective, and automatic method to analyze image features and correlate them with visual function. The aim of this study is to propose a fully automatic system which is capable of estimating visual acuity (VA) in RVO eyes, based only on…



A rare cause of obstructive jaundice: diagnosis by EUS and single-operator per-oral cholangioscopy

Repositorio: RUNA. Repositorio da Consellería de Sanidade e Sergas
Domínguez Muñoz, Juan Enrique, Veloso-Carmo, J., Martín-Presas, F., Lariño Noia, José, Abdulkader Nallib, Ihab, Iglesias García, Julio




Two truncating variants in FANCC and breast cancer risk

Repositorio: RUNA. Repositorio da Consellería de Sanidade e Sergas
Dörk, T., Peterlongo, P., Mannermaa, A., Bolla, M. K., Wang, Q., Dennis, J., Ahearn, T., Andrulis, I. L., Anton-Culver, H., Arndt, V., Aronson, K. J., Augustinsson, A., Freeman, L. E. B., Beckmann, M. W., Beeghly-Fadiel, A., Behrens, S., Bermisheva, M., Blomqvist, C., Bogdanova, N. V., Bojesen, S. E., Brauch, H., Brenner, H., Burwinkel, B., Canzian, F., Chan, T. L., Chang-Claude, J., Chanock, S. J., Choi, J. Y., Christiansen, H., Clarke, C. L., Couch, F. J., Czene, K., Daly, M. B., Dos-Santos-Silva, I., Dwek, M., Eccles, D. M., Ekici, A. B., Eriksson, M., Evans, D. G., Fasching, P. A., Figueroa, J., Flyger, H., Fritschi, L., Gabrielson, M., Gago Dominguez, Manuela, Gao, C., Gapstur, S. M., García-Closas, M., García-Sáenz, J. A., Gaudet, M. M., Giles, G. G., Goldberg, M. S., Goldgar, D. E., Guénel, P., Haeberle, L., Haiman, C. A., Håkansson, N., Hall, P., Hamann, U., Hartman, M., Hauke, J., Hein, A., Hillemanns, P., Hogervorst, F. B. L., Hooning, M. J., Hopper, J. L., Howell, T., Huo, D., Ito, H., Iwasaki, M., Jakubowska, A., Janni, W., John, E. M., Jung, A., Kaaks, R., Kang, D., Kapoor, P. M., Khusnutdinova, E., Kim, S. W., Kitahara, C. M., Koutros, S., Kraft, P., Kristensen, V. N., Kwong, A., Lambrechts, D., Marchand, L. L., Li, J., Lindström, S., Linet, M., Lo, W. Y., Long, J., Lophatananon, A., Lubiński, J., Manoochehri, M., Manoukian, S., Margolin, S., Martinez, E., Matsuo, K., Mavroudis, D., Meindl, A., Menon, U., Milne, R. L., Mohd Taib, N. A., Muir, K., Mulligan, A. M., Neuhausen, S. L., Nevanlinna, H., Neven, P., Newman, W. G., Offit, K., Olopade, O. I., Olshan, A. F., Olson, J. E., Olsson, H., Park, S. K., Park-Simon, T. W., Peto, J., Plaseska-Karanfilska, D., Pohl-Rescigno, E., Presneau, N., Rack, B., Radice, P., Rashid, M. U., Rennert, G., Rennert, H. S., Romero, A., Ruebner, M., Saloustros, E., Schmidt, M. K., Schmutzler, R. K., Schneider, M. O., Schoemaker, M. J., Scott, C., Shen, C. Y., Shu, X. O., Simard, J., Slager, S., Smichkoska, S., Southey, M. C., Spinelli, J. J., Stone, J., Surowy, H., Swerdlow, A. J., Tamimi, R. M., Tapper, W. J., Teo, S. H., Terry, M. B., Toland, A. E., Tollenaar, R. A. E.M, Torres, D., Torres-Mejía, G., Troester, M. A., Truong, T., Tsugane, S., Untch, M., Vachon, C. M., Ouweland, A. M. W.VD, Veen, E. M. V., Vijai, J., Wendt, C., Wolk, A., Yu, J. C., Zheng, W., Ziogas, A., Ziv, E., Dunning, A. M., Pharoah, P. D. P., Schindler, D., Devilee, P., Easton, D. F., Investigators, ABCTB, Collaborators, NBCS

Fanconi anemia (FA) is a genetically heterogeneous disorder with 22 disease-causing genes reported to date. In some FA genes, monoallelic mutations have been found to be associated with breast cancer risk, while the risk associations of others remain unknown. The gene for FA type C, FANCC, has been proposed as a breast cancer susceptibility gene based on epidemiological and sequencing studies. We used the Oncoarray project to genotype two truncating FANCC variants (p.R185X and p.R548X) in 64,…



Two Isoforms of the Guanine Nucleotide Exchange Factor, Daple/CCDC88C Cooperate as Tumor Suppressors

Repositorio: RUNA. Repositorio da Consellería de Sanidade e Sergas
Ear, J., Dunkel, Y., Mittal, Y., Lim, B. B. C., Liu, L., Holda, M. K., Nitsche, U., Barbazán García, Jorge, Goel, A., Janssen, K. P., Aznar, N., Ghosh, P.

Previously, Aznar et al., showed that Daple/CCDC88C enables Wnt receptors to transactivate trimeric G-proteins during non-canonical Wnt signaling via a novel G-protein binding and activating (GBA) motif. By doing so, Daple serves two opposing roles; earlier during oncogenesis it suppresses neoplastic transformation and tumor growth, but later it triggers epithelial-to-mesenchymal-transition (EMT). We have identified and characterized two isoforms of the human Daple gene. While both isoforms…



Leadless pacemaker implant in patients with pre-existing infections: Results from the Micra postapproval registry

Repositorio: RUNA. Repositorio da Consellería de Sanidade e Sergas
El-Chami, M. F., Johansen, J. B., Zaidi, A., Faerestrand, S., Reynolds, D., García Seara, Javier, Mansourati, J., Pasquie, J. L., McElderry, H. T., Roberts, P. R., Soejima, K., Stromberg, K., Piccini, J. P.

INTRODUCTION: Leadless pacemakers may provide a safe and attractive pacing option to patients with cardiac implantable electronic device (CIED) infection. We describe the characteristics and outcomes of patients with a recent CIED infection undergoing Micra implant attempt. METHODS AND RESULTS: Patients with prior CIED infection and device explant with Micra implant within 30 days, were identified from the Micra post approval registry. Procedure characteristics and outcomes were summarized. A…



Molecular Characterization of New FBXL4 Mutations in Patients With mtDNA Depletion Syndrome

Repositorio: RUNA. Repositorio da Consellería de Sanidade e Sergas
Emperador, S., Garrido-Pérez, N., Amezcua-Gil, J., Gaudó, P., Andrés-Sanz, J. A., Yubero, D., Fernández Marmiesse, Ana, O'Callaghan, M. M., Ortigoza-Escobar, J. D., Iriondo, M., Ruiz-Pesini, E., García-Cazorla, A., Gil-Campos, M., Artuch, R., Montoya, J., Bayona-Bafaluy, M. P.

Encephalomyopathic mitochondrial DNA (mtDNA) depletion syndrome 13 (MTDPS13) is a rare genetic disorder caused by defects in F-box leucine-rich repeat protein 4 (FBXL4). Although FBXL4 is essential for the bioenergetic homeostasis of the cell, the precise role of the protein remains unknown. In this study, we report two cases of unrelated patients presenting in the neonatal period with hyperlactacidemia and generalized hypotonia. Severe mtDNA depletion was detected in muscle biopsy in both…



In search of an evidence-based strategy for quality assessment of human tissue samples: report of the tissue Biospecimen Research Working Group of the Spanish Biobank Network

Repositorio: RUNA. Repositorio da Consellería de Sanidade e Sergas
Esteva-Socias, M., Artiga, M. J., Bahamonde, O., Belar, O., Bermudo, R., Castro, E., Escámez, T., Fraga Rodríguez, Máximo Francisco, Jauregui-Mosquera, L., Novoa, I., Peiró-Chova, L., Rejón, J. D., Ruiz-Miró, M., Vieiro Balo, Paula, Villar-Campo, V., Zazo, S., Rábano, A., Villena, C.

The purpose of the present work is to underline the importance of obtaining a standardized procedure to ensure and evaluate both clinical and research usability of human tissue samples. The study, which was carried out by the Biospecimen Science Working Group of the Spanish Biobank Network, is based on a general overview of the current situation about quality assurance in human tissue biospecimens. It was conducted an exhaustive review of the analytical techniques used to evaluate the quality…



Pharmaceutical companies information and antibiotic prescription patterns: A follow-up study in Spanish primary care

Repositorio: RUNA. Repositorio da Consellería de Sanidade e Sergas
Fernández-Álvarez, I., Zapata-Cachafeiro, M., Vázquez-Lago, J., López-Vázquez, P., Piñeiro Lamas, María, García Rodríguez, R., Figueiras Guzmán, Adolfo, Group, GREPHEPI, Estany Gestal, Ana

OBJECTIVES: To assess the impact of sources of drug information on antibiotic prescribing patterns (quantity and quality) among primary care physicians. METHODS: We conducted a cohort study on primary care physicians who were actively engaged in medical practice in 2010 in a region in north-west Spain (Galicia), fulfilling inclusion criteria (n = 2100). As the independent variable, we took the perceived utility of 6 sources of information on antibiotics, as measured by the validated KAAR-11…



Septo-optic dysplasia caused by a novel FLNA splice site mutation: a case report

Repositorio: RUNA. Repositorio da Consellería de Sanidade e Sergas
Fernández Marmiesse, Ana, Pérez-Poyato, M. S., Fontalba, A., Marco de Lucas, E., Martínez, M. T., Cabero Pérez, M. J., Couce Pico, María Luz

BACKGROUND: Septo-optic dysplasia (SOD), also known as de-Morsier syndrome, is a rare disorder characterized by any combination of optic nerve hypoplasia, pituitary gland hypoplasia, and midline abnormalities of the brain including absence of the septum pellucidum and corpus callosum dysgenesis. The variable presentation of SOD includes visual, neurologic, and/or hypothalamic-pituitary endocrine defects. The unclear aetiology of a large proportion of SOD cases underscores the importance of…



Rare Variants in 48 Genes Account for 42% of Cases of Epilepsy With or Without Neurodevelopmental Delay in 246 Pediatric Patients

Repositorio: RUNA. Repositorio da Consellería de Sanidade e Sergas
Fernández Marmiesse, Ana, Roca Otero, Iria, Díaz-Flores, F., Cantarín, V., Pérez-Poyato, M. S., Fontalba, A., Laranjeira, F., Quintans, S., Moldovan, O., Felgueroso Juliana, Blanca, Rodríguez Pedreira, Monserrat, Simón, R., Camacho, A., Quijada, P., Ibanez-Mico, S., Domingno, M. R., Benito, C., Calvo, R., Pérez-Cejas, A., Carrasco, M. L., Ramos, F., Couce Pico, María Luz, Ruiz-Falcó, M. L., Gutierrez-Solana, L., Martínez-Atienza, M.

In order to characterize the genetic architecture of epilepsy in a pediatric population from the Iberian Peninsula (including the Canary Islands), we conducted targeted exome sequencing of 246 patients with infantile-onset seizures with or without neurodevelopmental delay. We detected 107 variants in 48 different genes, which were implicated in neuronal excitability, neurodevelopment, synaptic transmission, and metabolic pathways. In 104 cases (42%) we detected variant(s) that we classified as…



ABCDE approach to victims by lifeguards: How do they manage a critical patient? A cross sectional simulation study

Repositorio: RUNA. Repositorio da Consellería de Sanidade e Sergas
Fernández-Méndez, F., Otero-Agra, M., Abelairas-Gómez, C., Sáez-Gallego, N. M., Rodríguez Núñez, Antonio, Barcala-Furelos, R.

INTRODUCTION: Decision-making in emergencies is a multifactorial process based on the rescuer, patient, setting and resources. The eye-tracking system is a proven method for assessing decision-making processes that have been used in different fields of science. Our aim was to evaluate the lifeguards' capacity to perform the ABCDE (Airway-Breathing-Circulation-Disability-Exposure) approach when facing a simulated critically ill-drowned victim. METHODS: A cross-sectional simulation study was…



Early Colorectal Cancers Provide New Evidence for a Lynch Syndrome-to-CMMRD Phenotypic Continuum

Repositorio: RUNA. Repositorio da Consellería de Sanidade e Sergas
Fernández Rozadilla, Ceres, Alvarez-Barona, M., Schamschula, E., Bodo, S., López Novo, Anael, Dacal Rivas, Andrés, Calviño Costas, Consuelo, Lancho Seco, Ángel, Amigo Lechuga, Jorge, Bello, X., Cameselle Teijeiro, Jose Manuel, Carracedo Álvarez, Ángel, Colas, C., Muleris, M., Wimmer, K., Ruiz Ponte, Clara

Lynch syndrome (LS) is the most common hereditary colorectal cancer (CRC) syndrome, caused by heterozygous mutations in the mismatch repair (MMR) genes. Biallelic mutations in these genes lead however, to constitutive mismatch repair deficiency (CMMRD). In this study, we follow the diagnostic journey of a 12-year old patient with CRC, with a clinical phenotype overlapping CMMRD. We perform molecular and functional assays to discard a CMMRD diagnosis then identify by exome sequencing and…



Adult Stem Cells and Induced Pluripotent Stem Cells for Stroke Treatment

Repositorio: RUNA. Repositorio da Consellería de Sanidade e Sergas
Fernández Susavila, Héctor, Bugallo Casal, Ana Isabel, Castillo Sánchez, José, Campos Pérez, Francisco

Stroke is the main cause of disability and death in the world within neurological diseases. Despite such a huge impact, enzymatic, and mechanical recanalization are the only treatments available so far for ischemic stroke, but only <20% of patients can benefit from them. The use of stem cells as a possible cell therapy in stroke has been tested for years. The results obtained from these studies, although conflicting or controversial in some aspects, are promising. In the last few years, the…



Genome-wide association and transcriptome studies identify target genes and risk loci for breast cancer

Repositorio: RUNA. Repositorio da Consellería de Sanidade e Sergas
Ferreira, M. A., Gamazon, E. R., Al-Ejeh, F., Aittomäki, K., Andrulis, I. L., Anton-Culver, H., Arason, A., Arndt, V., Aronson, K. J., Arun, B. K., Asseryanis, E., Azzollini, J., Balmaña, J., Barnes, D. R., Barrowdale, D., Beckmann, M. W., Behrens, S., Benitez, J., Bermisheva, M., Białkowska, K., Blomqvist, C., Bogdanova, N. V., Bojesen, S. E., Bolla, M. K., Borg, A., Brauch, H., Brenner, H., Broeks, A., Burwinkel, B., Caldés, T., Caligo, M. A., Campa, D., Campbell, I., Canzian, F., Carter, J., Carter, B. D., Castelao Fernández, José Esteban, Chang-Claude, J., Chanock, S. J., Christiansen, H., Chung, W. K., Claes, K. B. M., Clarke, C. L., Couch, F. J., Cox, A., Cross, S. S., Czene, K., Daly, M. B., de la Hoya, M., Dennis, J., Devilee, P., Diez, O., Dörk, T., Dunning, A. M., Dwek, M., Eccles, D. M., Ejlertsen, B., Ellberg, C., Engel, C., Eriksson, M., Fasching, P. A., Fletcher, O., Flyger, H., Friedman, E., Frost, D., Gabrielson, M., Gago Dominguez, Manuela, Ganz, P. A., Gapstur, S. M., Garber, J., García-Closas, M., García-Sáenz, J. A., Gaudet, M. M., Giles, G. G., Glendon, G., Godwin, A. K., Goldberg, M. S., Goldgar, D. E., González-Neira, A., Greene, M. H., Gronwald, J., Guénel, P., Haiman, C. A., Hall, P., Hamann, U., He, W., Heyworth, J., Hogervorst, F. B. L., Hollestelle, A., Hoover, R. N., Hopper, J. L., Hulick, P. J., Humphreys, K., Imyanitov, E. N., Isaacs, C., Jakimovska, M., Jakubowska, A., James, P. A., Janavicius, R., Jankowitz, R. C., John, E. M., Johnson, N., Joseph, V., Karlan, B. Y., Khusnutdinova, E., Kiiski, J. I., Ko, Y. D., Jones, M. E., Konstantopoulou, I., Kristensen, V. N., Laitman, Y., Lambrechts, D., Lazaro, C., Leslie, G., Lester, J., Lesueur, F., Lindström, S., Long, J., Loud, J. T., Lubiński, J., Makalic, E., Mannermaa, A., Manoochehri, M., Margolin, S., Maurer, T., Mavroudis, D., McGuffog, L., Meindl, A., Menon, U., Michailidou, K., Miller, A., Montagna, M., Moreno, F., Moserle, L., Mulligan, A. M., Nathanson, K. L., Neuhausen, S. L., Nevanlinna, H., Nevelsteen, I., Nielsen, F. C., Nikitina-Zake, L., Nussbaum, R. L., Offit, K., Olah, E., Olopade, O. I., Olsson, H., Osorio, A., Papp, J., Park-Simon, T. W., Parsons, M. T., Pedersen, I. S., Peixoto, A., Peterlongo, P., Pharoah, P. D. P., Plaseska-Karanfilska, D., Poppe, B., Presneau, N., Radice, P., Rantala, J., Rennert, G., Risch, H. A., Saloustros, E., Sanden, K., Sawyer, E. J., Schmidt, M. K., Schmutzler, R. K., Sharma, P., Shu, X. O., Simard, J., Singer, C. F., Soucy, P., Southey, M. C., Spinelli, J. J., Spurdle, A. B., Stone, J., Swerdlow, A. J., Tapper, W. J., Taylor, J. A., Teixeira, M. R., Terry, M. B., Teulé, A., Thomassen, M., Thöne, K., Thull, D. L., Tischkowitz, M., Toland, A. E., Torres, D., Truong, T., Tung, N., Vachon, C. M., van Asperen, C. J., van den Ouweland, A. M. W., van Rensburg, E. J., Vega Gliemmo, Ana, Viel, A., Wang, Q., Wappenschmidt, B., Weitzel, J. N., Wendt, C., Winqvist, R., Yang, X. R., Yannoukakos, D., Ziogas, A., Kraft, P., Antoniou, A. C., Zheng, W., Easton, D. F., Milne, R. L., Beesley, J., Chenevix-Trench, G., Collaborators, EMBRACE, Collaborators, GC-HBOC Study, Collaborators, GEMO Study, Investigators, ABCTB, Investigators, HEBON, Investigators, BCFR

Genome-wide association studies (GWAS) have identified more than 170 breast cancer susceptibility loci. Here we hypothesize that some risk-associated variants might act in non-breast tissues, specifically adipose tissue and immune cells from blood and spleen. Using expression quantitative trait loci (eQTL) reported in these tissues, we identify 26 previously unreported, likely target genes of overall breast cancer risk variants, and 17 for estrogen receptor (ER)-negative breast cancer, several…



Evaluation of 12 GWAS-drawn SNPs as biomarkers of rheumatoid arthritis response to TNF inhibitors. A potential SNP association with response to etanercept

Repositorio: RUNA. Repositorio da Consellería de Sanidade e Sergas
Ferreiro Iglesias, Aida, Montes, A., Pérez Pampín, Eva, Cañete, J. D., Raya, E., Magro-Checa, C., Vasilopoulos, Y., Caliz, R., Ferrer, M. A., Joven, B., Carreira, P., Balsa, A., Pascual-Salcedo, D., BLANCO GARCIA, FRANCISCO JAVIER, Moreno-Ramos, M. J., Manrique-Arija, S., Ordoñez, M. D. C., Alegre-Sancho, J. J., Narvaez, J., Navarro-Sarabia, F., Moreira, V., Valor, L., Garcia-Portales, R., Marquez, A., Gómez-Reino Carnota, Juan Jesús, Martin, J., González Martínez-Pedrayo, Antonio

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 the most studied. They include 12 SNPs exhibiting promising results in the three largest genome-wide association studies (GWAS). However, they still require further validation. With this aim, we assessed their association with response to TNFi in a replication study, and a…