El camí a Europa: els serveis d'aprenentatge i recerca a les biblioteques de la UPC

The article shows how the library services of the Universitat Politècnica de Catalunya (UPC) manage change and explores the current opportunities available (university, electronic information, etc.) for converting the libraries into centres that actively support training and research at the university level. After providing information about the current university scenario, the article focuses on the road taken by the UPC libraries to overcome at both a conceptual and a practical level the major challenge of the millennium: transforming the traditional university library into a centre with resources for supporting academic teaching and research.L'article pretén mostrar com els serveis bibliotecaris de la Universitat Politècnica de Catalunya (UPC) gestionen els canvis i les oportunitats de l'entorn (universitat, informació electrònica, etc.) per convertir les seves biblioteques en centres actius de suport a l'aprenentatge i a la recerca universitària. Després de presentar l'escenari universitari actual s'explicarà el camí que han iniciat les biblioteques de la UPC per assolir conceptualment i en els seus serveis el primer gran repte del mil·lenni: transformar la biblioteca universitària tradicional en un veritable centre de recursos per al suport a la docència i la recerca acadèmiques

Colecciones y servicios de soporte para alumnos y personal docente en la Biblioteca Universitaria del Campus del Baix Llobregat (BCBL)

The Baix Llobregat Campus Library (BCBL) offers to their professors and students services and activities related with their academic tasks and learning process: welcoming sessions to the students and professors who arrive to the UPC, subject training sessions where they learn to find useful information on their study areas, new digital applications and resources, ICT, seminars and collections directed to these user’s needs.Peer Reviewe

El camí a Europa: els serveis d'aprenentatge i recerca a les biblioteques de la UPC

Peer Reviewe

Hereditary Leiomyomatosis and Renal Cell Cancer Syndrome in Spain: Clinical and Genetic Characterization

Simple Summary Hereditary leiomyomatosis and renal cell cancer (HLRCC) syndrome is a very rare hereditary disorder characterized by cutaneous leiomyomas (CLMs), uterine leiomyomas (ULMs), renal cysts (RCys) and renal cell cancer (RCC), with no data on its prevalence worldwide. No genotype-phenotype associations have been described. The aim of our study was to describe the genotypic and phenotypic features of the largest series of patients with HLRCC from Spain reported to date. Of 27 FH germline pathogenic variants, 12 were not previously reported in databases. Patients with missense pathogenic variants showed higher frequencies of CLMs, ULMs and RCys, than those with loss-of-function variants. The frequency of RCCs (10.9%) was lower than those reported in the previously published series. Hereditary leiomyomatosis and renal cell cancer syndrome (HLRCC) is a very rare hereditary disorder characterized by cutaneous leiomyomas (CLMs), uterine leiomyomas (ULMs), renal cysts (RCys) and renal cell cancers (RCCs). We aimed to describe the genetics, clinical features and potential genotype-phenotype associations in the largest cohort of fumarate hydratase enzyme mutation carriers known from Spain using a multicentre, retrospective study of individuals with a genetic or clinical diagnosis of HLRCC. We collected clinical information from medical records, analysed genetic variants and looked for genotype-phenotype associations. Analyses were performed using R 3.6.0. software. We included 197 individuals: 74 index cases and 123 relatives. CLMs were diagnosed in 65% of patients, ULMs in 90% of women, RCys in 37% and RCC in 10.9%. Twenty-seven different pathogenic variants were detected, 12 (44%) of them not reported previously. Patients with missense pathogenic variants showed higher frequencies of CLMs, ULMs and RCys, than those with loss-of-function variants (p = 0.0380, p = 0.0015 and p = 0.024, respectively). This is the first report of patients with HLRCC from Spain. The frequency of RCCs was lower than those reported in the previously published series. Individuals with missense pathogenic variants had higher frequencies of CLMs, ULMs and RCys

Comprehensive Constitutional Genetic and Epigenetic Characterization of Lynch-Like Individuals

The causal mechanism for cancer predisposition in Lynch-like syndrome (LLS) remains unknown. Our aim was to elucidate the constitutional basis of mismatch repair (MMR) deficiency in LLS patients throughout a comprehensive (epi)genetic analysis. One hundred and fifteen LLS patients harboring MMR-deficient tumors and no germline MMR mutations were included. Mutational analysis of 26 colorectal cancer (CRC)-associated genes was performed. Pathogenicity of MMR variants was assessed by splicing and multifactorial likelihood analyses. Genome-wide methylome analysis was performed by the Infinium Human Methylation 450K Bead Chip. The multigene panel analysis revealed the presence of two MMR gene truncating mutations not previously found. Of a total of 15 additional MMR variants identified, five -present in 6 unrelated individuals- were reclassified as pathogenic. In addition, 13 predicted deleterious variants in other CRC-predisposing genes were found in 12 probands. Methylome analysis detected one constitutionalMLH1epimutation, but no additional differentially methylated regions were identified in LLS compared to LS patients or cancer-free individuals. In conclusion, the use of an ad-hoc designed gene panel combined with pathogenicity assessment of variants allowed the identification of deleterious MMR mutations as well as new LLS candidate causal genes. Constitutional epimutations in non-LS-associated genes are not responsible for LLS

Study protocol on Socioeconomic and Geographic Inequalities in CancerIncidence, Mortality and Survival in Spain: Multilevel Population-Base Study:DESOCANES studyKeywords

La incidencia y la mortalidad brindan información sobre la carga de la morbilidad del cáncer y los añoos potenciales de vida perdidos debido al cáncer. Se ha desarrollado el Índice de Privación (IP) como una medida estandarizada para medir la privación socioeconómica en España a nivel de sección censal. Además, se puede combinar la información del IP con variables ecológicas poblacionales y los datos de los Estudios Europeos de Alta Resolución en Cáncer. El objetivo de este estudio es caracterizar las desigualdades socioeconómicas en la incidencia, el exceso de mortalidad, la mortalidad prematura y la supervivencia neta para tres de los cánceres más incidentes (pulmón, colon-recto y mama) en España usando el IP. Este estudio nacional multinivel de base poblacional evaluará el impacto de las desigualdades socioeconómicas. Se usarán el análisis espacial, la modelización multinivel, la supervivencia neta y la evaluación del impacto económico. Los resultados serán útiles para el apoyo a la toma de decisiones y la planificación y la gestión de intervenciones en salud pública destinadas a reducir el impacto de las desigualdades socioeconómicas en el diagnóstico y el pronóstico de los pacientes de cáncer en España.Incidence and mortality provide information on the burden of cancer morbidity and the potential years of life lost due to cancer. The Spanish Deprivation Index (SDI) has been developed as a standardized measure to study socioeconomic deprivation in Spain at the census tract level. In addition, SDI information can becombined with ecological variables at the population level and data from the High-Resolution European Studies in Cancer. The aim of this study is to characterize socioeconomic inequalities in incidence, excess mortality, premature mortality and net survival for three of the most incident cancers (lung, colon-rectum and breast) in Spain using the SDI. This national population-based study will assess the impact of socioeconomic inequalities using a multilevel modelling approach. Spatial analysis, multilevel mode-ling, net survival and economic impact assessment will be used. The results will be useful for supportingdecision-making, planning, and management of public health interventions aimed at reducing the impact of socioeconomic inequalities in the diagnosis and prognosis of cancer patients in Spain

Traumatic stress symptoms among Spanish healthcare workers during the COVID-19 pandemic: a prospective study

Abstract Aim To investigate the occurrence of traumatic stress symptoms (TSS) among healthcare workers active during the COVID-19 pandemic and to obtain insight as to which pandemic-related stressful experiences are associated with onset and persistence of traumatic stress. Methods This is a multicenter prospective cohort study. Spanish healthcare workers (N = 4,809) participated at an initial assessment (i.e., just after the first wave of the Spain COVID-19 pandemic) and at a 4-month follow-up assessment using web-based surveys. Logistic regression investigated associations of 19 pandemic-related stressful experiences across four domains (infection-related, work-related, health-related and financial) with TSS prevalence, incidence and persistence, including simulations of population attributable risk proportions (PARP). Results Thirty-day TSS prevalence at T1 was 22.1%. Four-month incidence and persistence were 11.6% and 54.2%, respectively. Auxiliary nurses had highest rates of TSS prevalence (35.1%) and incidence (16.1%). All 19 pandemic-related stressful experiences under study were associated with TSS prevalence or incidence, especially experiences from the domains of health-related (PARP range 88.4–95.6%) and work-related stressful experiences (PARP range 76.8–86.5%). Nine stressful experiences were also associated with TSS persistence, of which having patient(s) in care who died from COVID-19 had the strongest association. This association remained significant after adjusting for co-occurring depression and anxiety. Conclusions TSSs among Spanish healthcare workers active during the COVID-19 pandemic are common and associated with various pandemic-related stressful experiences. Future research should investigate if these stressful experiences represent truly traumatic experiences and carry risk for the development of post-traumatic stress disorder

Colecciones y servicios de soporte para alumnos y personal docente en la Biblioteca Universitaria del Campus del Baix Llobregat (BCBL)

The Baix Llobregat Campus Library (BCBL) offers to their professors and students services and activities related with their academic tasks and learning process: welcoming sessions to the students and professors who arrive to the UPC, subject training sessions where they learn to find useful information on their study areas, new digital applications and resources, ICT, seminars and collections directed to these user’s needs.Peer Reviewe

El camí a Europa: els serveis d'aprenentatge i recerca a les biblioteques de la UPC

Peer Reviewe