Positive affect is inversely associated with mortality in individuals without depression

Background: Some studies have analyzed the relation between well-being and mortality but none of them have attempted to disentangle the differential influence that positive affect, negative affect, and evaluative well-being might have on mortality using a longitudinal design in the general population and measuring independently and accurately each component of well-being. The aim of the present study is to assess the association of these well-being components with mortality after adjusting for health and other lifestyle factors and to analyze whether this association is different in people with and without depression. Methods: A nationally representative sample of 4753 people from Spain was followed up after 3 years. Analyses were performed with Cox regression models among the total sample and separately in people with and without depression. Results: In the analyses adjusted for age, sex, and years of education, all three well-being variables showed separately a statistically significant association with mortality. However, after adjustment for health status and other confounders including the other well-being components, only positive affect remained as marginally associated with a decreased risk of mortality in the overall sample [HR = 0.87; 95% CI = 0.73-1.03], in particular among individuals without depression [HR = 0.82; 95% CI = 0.68-0.99]. Conclusion: Positive affect is inversely associated with mortality in individuals without depression. Future research should focus on assessing interventions associated with a higher level of positive affect.The research leading to these results has received funding from the European Union Horizon 2020 Framework Programme for Research and Innovation under grant agreement 635316 (ATHLOS Project), from the European Community’s Seventh Framework Programme (FP7/2007-2013) under grant agreement number 223071 (COURAGE in Europe), from the Spanish Ministry of Science and Innovation ACI- Promociona (ACI2009-1010), from the Centro de Investigación Biomédica en Red de Salud Mental (CIBERSAM) Mental Health and Disability Instruments Library Platform, and from the Instituto de Salud Carlos III-FIS research grants PS09/00295, PS09/01845, PI12/01490, and PI13/00059. Projects PI12/01490 and PI13/00059 have been co-funded by the European Union European Regional Development Fund (ERDF) “A Way to Build Europe.” The study was supported by the Instituto de Salud Carlos III Centro de Investigación Biomédica en Red de Salud Mental (CIBERSAM). NMM is supported by the programme “Contratos predoctorales para Formación de Personal Investigador, FPI-UAM,” Universidad Autónoma de Madrid, Spai

Differential Impact of Transient and Chronic Loneliness on Health Status. A Longitudinal Study

Loneliness is associated with worse health status out-comes. Yet, the present study is one of the first to identify howpatterns of loneliness (transient and chronic) are associated withhealth over time.Design:A total of 2,390 individuals were inter-viewed in 2011–2012 and 2014–2015 in a follow-up study con-ducted over a nationally representative sample of Spain. Afterconfirming a longitudinal relationship between loneliness andhealth status, a growth curve mixture modeling was used toexamine health trajectories.Main outcome measures:The three-item UCLA Loneliness Scale was used to assess loneliness. Healthstatus was measured with self-reported questions regarding tendomains (vision, mobility, and self-care, among others), and sevenmeasured tests (including grip strength, walking speed and imme-diate and delayed verbal recall).Results:A quarter of participantswere lonely at baseline. Both the group of transient and chronicloneliness showed a negative significant relationship with healthstatus at follow-up, (b¼ 0.063 andb¼ 0.075 respectively,p<0.001). Nevertheless, the health status did not change acrosstime in any group.Conclusion:People experiencing chronic lone-liness had the worst health status. Different patterns of lonelinesscould benefit from the appropriate interventionsThis work was supported by the EU Horizon 2020 Framework Programme for Research andInnovation [635316 (ATHLOS Project)], by the European Community’s Seventh FrameworkProgramme (FP7/2007-2013) under agreement number 223071 (COURAGE in Europe), by theSpanish Ministry of Science and Innovation ACI-Promociona (ACI2009-1010), and by the Institutode Salud Carlos III-FIS research grants [PS09/00295, PS09/01845, PI12/01490, PI13/00059, PI16/00218 and PI16/01073]. Projects PI12/01490, PI13/00059, PI16/00218 and PI16/01073 have beenco-funded by the European Union European Regional Development Fund (ERDF)‘A Way toBuild Europe’. The work was also supported by the Instituto de Salud Carlos III Centro deInvestigaci on Biom edica en Red de Salud Mental (CIBERSAM). ST is supported by theFoundation for Education and European Culture (IPEP), the Sara Borrell postdoctoral programme(reference no. CD15/00019 from the Instituto de Salud Carlos III (ISCIII–Spain) and the Fondo190N. MART IN-MAR IA ET AL.Europeo de Desarrollo Regional (FEDER). NMM is supported by the programme‘Contratos pre-doctorales para Formaci on de Personal Investigador, FPI-UAM’, Universidad Aut onoma deMadrid, Spai

Positive Affect is inversely associated with mortality in individuals without depression

BACKGROUND: Some studies have analyzed the relation between well-being and mortality but none of them have attempted to disentangle the differential influence that positive affect, negative affect, and evaluative well-being might have on mortality using a longitudinal design in the general population and measuring independently and accurately each component of well-being. The aim of the present study is to assess the association of these well-being components with mortality after adjusting for health and other lifestyle factors and to analyze whether this association is different in people with and without depression. METHODS: A nationally representative sample of 4753 people from Spain was followed up after 3 years. Analyses were performed with Cox regression models among the total sample and separately in people with and without depression. RESULTS: In the analyses adjusted for age, sex, and years of education, all three well-being variables showed separately a statistically significant association with mortality. However, after adjustment for health status and other confounders including the other well-being components, only positive affect remained as marginally associated with a decreased risk of mortality in the overall sample [HR = 0.87; 95% CI = 0.73-1.03], in particular among individuals without depression [HR = 0.82; 95% CI = 0.68-0.99]. CONCLUSION: Positive affect is inversely associated with mortality in individuals without depression. Future research should focus on assessing interventions associated with a higher level of positive affect

Trajectories of Immediate and Delayed Verbal Memory in the Spanish General Population of Middle-aged and Older Adults

(1) Cognitive decline differs among individuals and cognition function domains. We sought to identify distinct groups of immediate and delayed verbal memory in two age subsamples (50-64, 65+ years), and to analyze associated factors. (2) Latent class mixed models were used to identify verbal memory trajectories in a sample of Spanish community-dwelling individuals over 8 years' follow up. Chi-square and Kruskal-Wallis tests were used to assess differences among trajectories. (3) Different trajectories were identified. In the case of immediate verbal memory, these were: very low/decline (6.3%), low/stable (38.2%), medium/slow decline (43.4%), and high/slow decline (12.2%) in the middle-aged group, and low/decline (20.4%), medium/slow decline (60.4%), and high/slow decline (19.2%) in the older subsample. In delayed verbal memory, more distinct patterns were found: very low/decline (12.4%), low/stable (51.4%), medium/accelerated decline (24.7%), and high/slow increase (11.4%) in the younger group, and low/slow decline (34.4%), medium/decline (52.7%), and high/slow decline (12.9%) in the older group. (4) Overall, low initial performance and decline were associated with older age, lower education, and higher diabetes/stroke prevalence. Differences found suggests heterogeneity in cognitive ageing. The high prevalence of cardiovascular diseases in those with worse cognition suggests that early interventions to prevent those conditions should be targeted in midlife to delay cognitive decline

Fruit and Vegetable Consumption and Potential Moderators Associated with All-Cause Mortality in a Representative Sample of Spanish Older Adults

This study sought to determine the association between levels of fruit and vegetable consumption and time to death, and to explore potential moderators. We analyzed a nationally-representative sample of 1699 older adults aged 65+ who were followed up for a period of 6 years. Participants were classified into low (≤3 servings day), medium (4), or high (≥5) consumption using tertiles. Unadjusted and adjusted cox proportional hazard regression models (by age, gender, cohabiting, education, multimorbidity, smoking, physical activity, alcohol consumption, and obesity) were calculated. The majority of participants (65.7%) did not meet the recommendation of five servings per day. High fruit and vegetable intake increased by 27% the probability of surviving among older adults with two chronic conditions, compared to those who consumed ≤3 servings per day (HR = 0.38, 95%CI = 0.21-0.69). However, this beneficial effect was not found for people with none, one chronic condition or three or more, indicating that this protective effect might not be sufficient for more severe cases of multimorbidity. Given a common co-occurrence of two non-communicable diseases in the elderly and the low frequency of fruit and vegetable consumption in this population, interventions to promote consuming five or more servings per day could have a significant positive impact on reducing mortality

An evaluation of pipelines for DNA variant detection can guide a reanalysis protocol to increase the diagnostic ratio of genetic diseases

Clinical exome (CE) sequencing has become a first-tier diagnostic test for hereditary diseases; however, its diagnostic rate is around 30–50%. In this study, we aimed to increase the diagnostic yield of CE using a custom reanalysis algorithm. Sequencing data were available for three cohorts using two commercial protocols applied as part of the diagnostic process. Using these cohorts, we compared the performance of general and clinically relevant variant calling and the efficacy of an in-house bioinformatic protocol (FJD-pipeline) in detecting causal variants as compared to commercial protocols. On the whole, the FJD-pipeline detected 99.74% of the causal variants identified by the commercial protocol in previously solved cases. In the unsolved cases, FJD-pipeline detects more INDELs and non-exonic variants, and is able to increase the diagnostic yield in 2.5% and 3.2% in the re-analysis of 78 cancer and 62 cardiovascular cases. These results were considered to design a reanalysis, filtering and prioritization algorithm that was tested by reassessing 68 inconclusive cases of monoallelic autosomal recessive retinal dystrophies increasing the diagnosis by 4.4%. In conclusion, a guided NGS reanalysis of unsolved cases increases the diagnostic yield in genetic disorders, making it a useful diagnostic tool in medical geneticsWe want to thank the participants for consenting to the use of their data for the study. We would like to thank all technical staff in the genetics service of the Fundación Jiménez Díaz University Hospital for conducting the sequencing and segregation analysis. We also thank Oliver Shaw (IIS-FJD) for editorial assistance. This work was supported by the Instituto de Salud Carlos III (ISCIII) of the Spanish Ministry of Health (FIS; PI16/00425, PI19/00321, PI18/00579 and PI20/00851), Centro de Investigación Biomédica en Red Enfermedades Raras (CIBERER, 06/07/0036), IIS-FJD BioBank (PT13/0010/0012), Comunidad de Madrid (CAM, RAREGenomics Project, B2017/BMD-3721), Ramón Areces Foundation (4019/012), Conchita Rábago Foundation, and the University Chair UAM-IIS-FJD of Genomic Medicine. R.R. is supported by a postdoctoral fellowship of the Comunidad de Madrid (2019-T2/BMD-13714), L.d.l.F. is supported by the platform technician contract of ISCIII (CA18/00017), IPR is supported by a PhD studentship from the predoctoral program from ISCIII (FI17/ 00192), I.F.I. is supported by a grant from the Comunidad de Madrid (CAM, PEJ-2017- AI/BMD7256), G.N.M. is supported by a grant from the Comunidad de Madrid (PEJ2020-AI/BMD-18610), A.D. is supported by a PhD studentship from the predoctoral program from ISCIII (FI18/00123), B.A. is supported by a Juan Rodes program from ISCIII (JR17/00020), C.R. is supported by a PhD studentship from the Conchita Rabago Foundation and PM and MC are supported by a Miguel Servet program contract from ISCIII (CP16/00116 and CPII17/00006, respectively). The funders played no role in study design, data collection, data analysis, manuscript preparation, and/or publication decision

A prevalent mutation with founder effect in Spanish Recessive Dystrophic Epidermolysis Bullosa families

<p>Abstract</p> <p>Background</p> <p>Recessive Dystrophic Epidermolysis Bullosa (RDEB) is a genodermatosis caused by more than 500 different mutations in the <it>COL7A1 </it>gene and characterized by blistering of the skin following a minimal friction or mechanical trauma.</p> <p>The identification of a cluster of RDEB pedigrees carrying the c.6527insC mutation in a specific area raises the question of the origin of this mutation from a common ancestor or as a result of a hotspot mutation. The aim of this study was to investigate the origin of the c.6527insC mutation.</p> <p>Methods</p> <p>Haplotypes were constructed by genotyping nine single nucleotides polymorphisms (SNPs) throughout the <it>COL7A1 </it>gene. Haplotypes were determined in RDEB patients and control samples, both of Spanish origin.</p> <p>Results</p> <p>Sixteen different haplotypes were identified in our study. A single haplotype cosegregated with the c.6527insC mutation.</p> <p>Conclusion</p> <p>Haplotype analysis showed that all alleles carrying the c.6527insC mutation shared the same haplotype cosegregating with this mutation (<b><it>CCGCTCAAA_6527insC</it></b>), thus suggesting the presence of a common ancestor.</p

Aprendiendo sobre educación sanitaria, evaluación y tratamiento de casos clínicos mediante el uso de recursos audiovisuales en entornos virtuales

El Espacio Europeo de Educación Superior marcó un cambio en la conceptualización del proceso de enseñanza-aprendizaje poniendo el foco en el papel activo de los/as estudiantes, los cuales han de ser guiados por el profesorado para que sean capaces de autogestionar su aprendizaje a lo largo de la vida. Por otro lado, la pandemia por Covid-19 puso de manifiesto la necesidad de crear materiales docentes que se pudieran integrar en entornos virtuales para facilitar y complementar dicho proceso de enseñanza-aprendizaje. El presente proyecto de innovación docente tuvo como objetivo crear un curso online en el que se integraran recursos didácticos audiovisuales para facilitar el aprendizaje del alumnado del Grado de Terapia Ocupacional sobre educación sanitaria, evaluación y tratamiento de casos clínicos. Para ello se elaboró un curso que fue administrado a través de la plataforma Prado al estudiantado del Grado de Terapia Ocupacional. Dicho curso se estructuró en 3 módulos, en los cuales se insertaron actividades que aseguraron la visualización de los contenidos incluidos en los módulos. Junto a las variables de factibilidad como son la adopción, adherencia y aceptación, se evaluó en incremento de conocimientos a través de un cuestionario pre-post diseñado para tal fin. Un total de 113 estudiantes con una media de edad realizaron el curso online. De ellos, el 83% fueron mujeres. La tasa de adopción del curso fure del 83%, la adherencia del 98%, y la aceptación del curso mostró una puntuación media (desviación estándar) de120.35 (13.48) puntos sobre un máximo de 147 puntos (medido con la escala UTAUT2). En términos de la adquisición de conocimientos, la puntuación media (desviación estándar) antes del curso fue de 6.97 (2.0) puntos sobre 18 puntos, y tras la realización del mismo fue de 15.12 (2.0) puntos. Aquellos estudiantes que previamente habían curso la asignatura del Grado de Terapia Ocupacional “Terapia Ocupacional para la Autonomía Personal: Actividades de la Vida diaria” obtuvieron un mayor incremento del aprendizaje [r=0.44, p <0.001). Apoyando estos resultados la teoría del aprendizaje significativo de Ausubel que enfatiza la necesidad de adquirir ciertos conocimientos previos para poder incorporar otros posteriores. Como conclusión se puede corroborar que el curso de formación creado es factible en estudiantes de terapia ocupacional y permite incrementar los conocimientos de dichos estudiantes. Incorporar este tipo de formación combinándola con la enseñanza en persona puede ser una forma de incrementar la participación y la mejora del proceso enseñanza-aprendizaje en el entorno universitario

Genetic landscape of 6089 inherited retinal dystrophies affected cases in Spain and their therapeutic and extended epidemiological implications

ESRETNET Study Group, The ERDC Study Group, The Associated Clinical Study Group.Inherited retinal diseases (IRDs), defined by dysfunction or progressive loss of photoreceptors, are disorders characterized by elevated heterogeneity, both at the clinical and genetic levels. Our main goal was to address the genetic landscape of IRD in the largest cohort of Spanish patients reported to date. A retrospective hospital-based cross-sectional study was carried out on 6089 IRD affected individuals (from 4403 unrelated families), referred for genetic testing from all the Spanish autonomous communities. Clinical, demographic and familiar data were collected from each patient, including family pedigree, age of appearance of visual symptoms, presence of any systemic findings and geographical origin. Genetic studies were performed to the 3951 families with available DNA using different molecular techniques. Overall, 53.2% (2100/3951) of the studied families were genetically characterized, and 1549 different likely causative variants in 142 genes were identified. The most common phenotype encountered is retinitis pigmentosa (RP) (55.6% of families, 2447/4403). The most recurrently mutated genes were PRPH2, ABCA4 and RS1 in autosomal dominant (AD), autosomal recessive (AR) and X-linked (XL) NON-RP cases, respectively; RHO, USH2A and RPGR in AD, AR and XL for non-syndromic RP; and USH2A and MYO7A in syndromic IRD. Pathogenic variants c.3386G > T (p.Arg1129Leu) in ABCA4 and c.2276G > T (p.Cys759Phe) in USH2A were the most frequent variants identified. Our study provides the general landscape for IRD in Spain, reporting the largest cohort ever presented. Our results have important implications for genetic diagnosis, counselling and new therapeutic strategies to both the Spanish population and other related populations.This work was supported by the Instituto de Salud Carlos III (ISCIII) of the Spanish Ministry of Health (FIS; PI16/00425 and PI19/00321), Centro de Investigación Biomédica en Red Enfermedades Raras (CIBERER, 06/07/0036), IIS-FJD BioBank (PT13/0010/0012), Comunidad de Madrid (CAM, RAREGenomics Project, B2017/BMD-3721), European Regional Development Fund (FEDER), the Organización Nacional de Ciegos Españoles (ONCE), Fundación Ramón Areces, Fundación Conchita Rábago and the University Chair UAM-IIS-FJD of Genomic Medicine. Irene Perea-Romero is supported by a PhD fellowship from the predoctoral Program from ISCIII (FI17/00192). Ionut F. Iancu is supported by a grant from the Comunidad de Madrid (CAM, PEJ-2017-AI/BMD7256). Marta del Pozo-Valero is supported by a PhD grant from the Fundación Conchita Rábago. Berta Almoguera is supported by a Juan Rodes program from ISCIII (JR17/00020). Pablo Minguez is supported by a Miguel Servet program from ISCIII (CP16/00116). Marta Corton is supported by a Miguel Servet program from ISCIII (CPII17/00006)

Correlation of recist, computed tomography morphological response, and pathological regression in hepatic metastasis secondary to colorectal cancer : The avamet study

The prospective phase IV AVAMET study was undertaken to correlate response evaluation criteria in solid tumors (RECIST)-defined response rates with computed tomography-based morphological criteria (CTMC) and pathological response after liver resection of colorectal cancer metastases. Eligible patients were aged ≥18 years, with Eastern Cooperative Oncology Group (ECOG) performance status 0/1 and histologically-confirmed colon or rectal adenocarcinoma with measurable liver metastases. Preoperative treatment was bevacizumab (7.5 mg on day 1) + XELOX (oxaliplatin 130 mg/m, capecitabine 1000 mg/m bid on days 1-14 q3w). After three cycles, response was evaluated by a multidisciplinary team. Patients who were progression-free and metastasectomy candidates received one cycle of XELOX before undergoing surgery 3-5 weeks later, followed by four cycles of bevacizumab + XELOX. A total of 83 patients entered the study; 68 were eligible for RECIST, 67 for CTMC, and 51 for pathological response evaluation. Of these patients, 49% had a complete or partial RECIST response, 91% had an optimal or incomplete CTMC response, and 81% had a complete or major pathological response. CTMC response predicted 37 of 41 pathological responses versus 23 of 41 responses predicted using RECIST (p = 0.008). Kappa coefficients indicated a lack of correlation between the results of RECIST and morphological responses and between morphological and pathological response rates. CTMC may represent a better marker of pathological response to bevacizumab + XELOX than RECIST in patients with potentially-resectable CRC liver metastases