• Increasing phenotypic annotation improves the diagnostic rate of exome sequencing in a rare neuromuscular disorder

  Thompson, Rachel; Papakonstantinou Ntalis, Anastasios; Beltran, Sergi; Topf, Ana; de Paula Estephan, Eduardo; Poloavarapu, Kiran; Hoen, Peter A. C.; Missier, Paolo; Lochmüller, Hanns (Wiley-VCH Verlag, 2019)

  Phenotype-based filtering and prioritization contribute to the interpretation of genetic variants detected in exome sequencing. However, it is currently unclear how extensive this phenotypic annotation should be. In this ...
• Gene gain and loss across the Metazoan Tree of Life

  Fernández, Rosa; Gabaldón Estevan, Juan Antonio, 1973- (Nature Research, 2020)

  Although recent research has revealed high genomic complexity in the earliest-splitting animals and their ancestors, the macroevolutionary trends orchestrating gene repertoire evolution throughout the animal phyla remain ...
• Elimination profile of triamcinolone hexacetonide and its metabolites in human urine and plasma after a single intra-articular administration

  Coll Camenforte, Sergi, 1991-; Matabosch Geronès, Xavier; Llorente Onaindia, Jone; Carbó Banús, Marcel·lí; Pérez Mañá, Clara; Monfort Mercader, Núria, 1983-; Monfort, Jordi; Ventura Alemany, Rosa (Wiley, 2019)

  Triamcinolone hexacetonide (THA) is a synthetic glucocorticoid (GC) used by intra-articular (IA) administration. GCs are prohibited in sports competitions by systemic routes, and they are allowed by other routes considered ...
• Ten Research Questions for Improving COPD Care in the Next Decade

  López-Campos, José Luis; Rodríguez Chiaradia, Diego Agustín; Quintana-Gallego, Esther; Martínez-Llorens, Juana Mª; Carrasco Hernández, Laura; Barreiro Portela, Esther (Taylor & Francis, 2019)

  With the 60th anniversary of the CIBA symposium, it is worth evaluating research questions that should be prioritized in the future. Coming research initiatives can be summarized in 10 main areas. (1) From epidemiology the ...
• Airway responsiveness to methacholine and incidence of COPD: an international prospective cohort study

  Marcon, Alessandro; Fuertes, Elaine; García Aymerich, Judith; Ageing Lungs In European Cohorts study (BMJ Publishing Group, 2018)

  Background: It has been debated, but not yet established, whether increased airway responsiveness can predict COPD. Recognising this link may help in identifying subjects at risk. Objective: We studied prospectively whether ...
• Green spaces and mortality: a systematic review and meta-analysis of cohort studies

  Rojas Rueda, David, 1979-; Nieuwenhuijsen, Mark J.; Gascon Merlos, Mireia, 1984-; Pérez-León, Daniela; Mudu, Pierpaolo (Elsevier, 2019)

  Background: Green spaces have been proposed to be a health determinant, improving health and wellbeing through different mechanisms. We aimed to systematically review the epidemiological evidence from longitudinal studies ...
• Availability, use of, and satisfaction with green space, and children's mental wellbeing at age 4 years in a multicultural, deprived, urban area: results from the Born in Bradford cohort study

  McEachan, Rosemary R.C.; Yang, Tiffany C.; Roberts, Hannah; Pickett, Kate E.; Arseneau-Powell, Diana; Gidlow, Christopher J.; Wright, John; Nieuwenhuijsen, Mark J. (Elsevier, 2018)

  Background: It is unknown whether the quantity or quality of green space is more important for mental wellbeing. We aimed to explore associations between availability of, satisfaction with, and use of green space and mental ...
• Second-hand smoke exposure in adulthood and lower respiratory health during 20 year follow up in the European Community Respiratory Health Survey

  Flexeder, Claudia; García Aymerich, Judith; Heinrich, Joachim (BioMed Central, 2019)

  Background: Early life exposure to tobacco smoke has been extensively studied but the role of second-hand smoke (SHS) for new-onset respiratory symptoms and lung function decline in adulthood has not been widely investigated ...
• Temporal changes in the effects of ambient temperatures on hospital admissions in Spain

  Martínez Solanas, Èrica, 1982-; Basagaña Flores, Xavier (Public Library of Science (PLoS), 2019)

  Background: The exposure to extreme ambient temperatures has been reported to increase mortality, although less is known about its impact on morbidity. The analysis of temporal changes in temperature-health associations ...
• Determinants of study completion and response to a 12-month behavioral physical activity intervention in chronic obstructive pulmonary disease: A cohort study

  Koreny, Maria; Demeyer, Heleen; Arbillaga Etxarri, Ane, 1986-; Gimeno Santos, Elena, 1980-; Barberan-Garcia, Anael; Benet, Marta; Balcells Vilarnau, Eva, 1967-; Borrell, Eulàlia; Marin, Alicia; Rodríguez Chiaradía, Diego A.; Vall-Casas, Pere; Vilaró Casamitjana, Jordi; Rodríguez Roisin, Robert; García Aymerich, Judith (Public Library of Science (PLoS), 2019)

  Objectives: Physical activity is key to improve the prognosis of chronic obstructive pulmonary disease (COPD). To help to tailor future interventions we aimed to identify the baseline characteristics of COPD patients which ...
• Partial loss of USP9X function leads to a male neurodevelopmental and behavioral disorder converging on transforming growth factor β signaling

  Johnson, Brett V.; Pérez Jurado, Luis Alberto; Jolly, Lachlan A. (Elsevier, 2020)

  Background: The X-chromosome gene USP9X encodes a deubiquitylating enzyme that has been associated with neurodevelopmental disorders primarily in female subjects. USP9X escapes X inactivation, and in female subjects de ...
• No se debe empezar la casa por el tejado (si queremos publicar en una revista de impacto)

  Santibáñez, Miguel; García-Rivero, Juan Luis; Barreiro Portela, Esther (Elsevier, 2020)
• Temporal and geographical variability of prevalence and incidence of autism spectrum disorder diagnoses in children in Catalonia, Spain

  Pérez Crespo, Laura; Prats Uribe, Albert; Tobias, Aurelio; Duran-Tauleria Enric; Coronado, Ricard; Hervás, Amaia; Guxens Junyent, Mònica (Wiley, 2019)

  This study aims to estimate the prevalence of autism spectrum disorders (ASD) in 2017 and the ASD diagnosis incidence between 2009 and 2017 in children living in Catalonia region in Spain, and their temporal and geographical ...
• A multidisciplinary proposal for a diagnostic algorithm in idiopathic pulmonary fibrosis: the role of transbronchial cryobiopsy

  Castillo, Diego; Sánchez-Font, Albert; Pajares, Virginia; Franquet, Tomás; Llatjós, Roger; Sansano, Irene; Sellarés, Jacobo; Centeno, Carmen; Fibla, Juan J.; Sánchez, Marcelo; Ramírez, José; Moreno, Amalia; Trujillo-Reyes, Juan Carlos; Barbeta, Enric; Molina-Molina, María; Torrego, Alfons; CRIOMPID (Elsevier, 2020)

  The diagnosis of idiopathic pulmonary fibrosis (IPF) is a complex process that requires the multidisciplinary integration of clinical, radiological, and histological variables. Due to its diagnostic yield, surgical lung ...
• Long-term stroke recurrence after transient ischemic attack: implications of etiology

  Ois Santiago, Angel Javier; Cuadrado Godia, Elisa; Giralt-Steinhauer, Eva; Jiménez Conde, Jordi; Soriano Tarraga, Carolina; Rodríguez Campello, Ana María; Avellaneda Gómez, Carla; Cascales Lahoz, Diego; Fernández-Pérez, Isabel; Roquer, Jaume (Korean Stroke Society, 2019)

  Background and purpose: To analyze long-term stroke recurrence (SR) characteristics after transient ischemic attack (TIA) according to initial etiological classification. Methods: A prospective cohort of 706 TIA patients ...
• Body silhouettes as a tool to reflect obesity in the past

  Lønnebotn, Marianne; García Aymerich, Judith; Gómez Real, Francisco (Public Library of Science (PLoS), 2018)

  Life course data on obesity may enrich the quality of epidemiologic studies analysing health consequences of obesity. However, achieving such data may require substantial resources. We investigated the use of body silhouettes ...
• Long-term epigenetic changes in offspring mice exposed to alcohol during gestation and lactation

  Cantacorps, Lídia; Alfonso-Loeches, Silvia; Guerri, Consuelo; Valverde Granados, Olga (SAGE Publications, 2019)

  Background: Alcohol exposure impairs brain development and leads to a range of behavioural and cognitive dysfunctions, termed as foetal alcohol spectrum disorders. Although different mechanisms have been proposed to ...
• Histone deacetylases inhibitor trichostatin A reverses anxiety-like symptoms and memory impairments induced by maternal binge alcohol drinking in mice

  Montagud-Romero, Sandra; Cantacorps, Lídia; Valverde Granados, Olga (SAGE Publications, 2019)

  Background: Alcohol exposure during development has detrimental effects, including a wide range of physical, cognitive and neurobehavioural anomalies known as foetal alcohol spectrum disorders. However, alcohol consumption ...
• Trends in smoking initiation in Europe over 40 years: A retrospective cohort study

  Marcon, Alessandro; Pesce, Giancarlo; Calciano, Lucia; Bellisario, Valeria; Dharmage, Shyamali C.; García Aymerich, Judith; Gislasson, Thorarinn; Heinrich, Joachim; Holm, Mathias; Janson, Christer; Jarvis, Deborah; Leynaert, Bénédicte; Matheson, Melanie C.; Pirina, Pietro; Svanes, Cecilie; Villani, Simona; Zuberbier, Torsten; Minelli, Cosetta; Accordini, Simone; Ageing Lungs In European Cohorts study (Public Library of Science (PLoS), 2018)

  BACKGROUND: Tobacco consumption is the largest avoidable health risk. Understanding changes of smoking over time and across populations is crucial to implementing health policies. We evaluated trends in smoking initiation ...
• Health effects of particulate matter air pollution in underground railway systems - a critical review of the evidence

  Loxham, Matthew; Nieuwenhuijsen, Mark J. (BioMed Central, 2019)

  Background: Exposure to ambient airborne particulate matter is a major risk factor for mortality and morbidity, associated with asthma, lung cancer, heart disease, myocardial infarction, and stroke, and more recently type ...

View more